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 LOC100507218 100507218 broad.mit.edu 37 17 74141503 74141503 + Splice_Site SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr17:74141503G>A uc002jqy.2 + 4 c.410_splice c.e4-1 RNF157_uc002jqz.3_Intron|RNF157_uc002jra.3_Intron Homo sapiens uncharacterized LOC100507218 (LOC100507218), non-coding RNA. TCTCCAGCAGGGCAGCCCAGG 0.582000 4 14 0 0 0.00244969 0 0 GDF3 9573 broad.mit.edu 37 12 7848199 7848199 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr12:7848199C>T uc001qte.3 - 0 162 c.126G>A c.(124-126)caG>caA p.Q42Q NM_020634 NP_065685 Q9NR23 GDF3_HUMAN Homo sapiens growth differentiation factor 3 (GDF3), mRNA. 42 eye development|growth|skeletal system development extracellular space cytokine activity|growth factor activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 28 GTTGGAACTTCTGGGGTGAAG 0.483000 25 13 0 0 0.00185496 0 0 LHFP 10186 broad.mit.edu 37 13 39918104 39918104 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr13:39918104G>A uc001uxf.3 - 3 1083 c.572C>T c.(571-573)tCg>tTg p.S191L NM_005780 NP_005771 Q9Y693 LHFP_HUMAN Homo sapiens lipoma HMGIC fusion partner (LHFP), mRNA. 191 integral to membrane DNA binding HMGA2/LHFP(2) breast(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(6)|prostate(2) 13 Lung NSC(96;3.55e-06)|Breast(139;0.00408)|Ovarian(182;0.0107)|Prostate(109;0.0118)|Lung SC(185;0.0719)|Hepatocellular(188;0.114) OV - Ovarian serous cystadenocarcinoma(117;6.48e-46)|Epithelial(112;8.43e-42)|all cancers(112;1.42e-36)|GBM - Glioblastoma multiforme(144;0.00187)|BRCA - Breast invasive adenocarcinoma(63;0.00886)|KIRC - Kidney renal clear cell carcinoma(186;0.048)|Kidney(163;0.0601)|LUSC - Lung squamous cell carcinoma(192;0.105) TTTCTTGCCCGAAAAGCAAGC 0.557000 T HMGA2 lipoma 63 25 0 0 0.000720815 0 0 THSD7B 80731 broad.mit.edu 37 2 137814319 137814319 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:137814319G>A uc002tva.1 + 1 376 c.376G>A c.(376-378)Gaa>Aaa p.E126K THSD7B_uc010zbj.1_Non-coding_Transcript|THSD7B_uc002tvb.3_Missense_Mutation_p.E16K NM_001080427 NP_001073896 Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA. NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 134 BRCA - Breast invasive adenocarcinoma(221;0.19) GGTTGCAAATGAAATATGCGA 0.522000 76 57 0 0 0.00361006 0 0 TYK2 7297 broad.mit.edu 37 19 10461603 10461603 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:10461603G>A uc002moc.4 - 24 3849 c.3471C>T c.(3469-3471)tcC>tcT p.S1157S TYK2_uc010dxe.3_Silent_p.S972S NM_003331 NP_003322 P29597 TYK2_HUMAN Homo sapiens tyrosine kinase 2 (TYK2), mRNA. 1157 Protein kinase 2. intracellular protein kinase cascade|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway cytoskeleton|cytosol|membrane|nucleus ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 64 OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06) TTGGGCGAAAGGACGCCTCTG 0.552000 30 40 0 0 0.00222228 0 0 MKL2 57496 broad.mit.edu 37 16 14334138 14334138 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr16:14334138G>A uc010uza.2 + 9 1031 c.876G>A c.(874-876)aaG>aaA p.K292K MKL2_uc002dcg.3_Silent_p.K292K|MKL2_uc002dch.3_Silent_p.K281K|MKL2_uc010uzb.2_Silent_p.K241K NM_014048 NP_054767 Q9ULH7 MKL2_HUMAN Homo sapiens MKL/myocardin-like 2 (MKL2), mRNA. 281 cell differentiation|muscle organ development|positive regulation of striated muscle tissue development|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent identical protein binding|nucleic acid binding|transcription coactivator activity breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 GTAGCAAAAAGTGCAAAGATC 0.383000 20 50 0 0 0.00361006 0 0 XRCC6BP1 91419 broad.mit.edu 37 12 58350598 58350598 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr12:58350598C>T uc001sqp.3 + 5 706 c.666C>T c.(664-666)atC>atT p.I222I NM_033276 NP_150592 Q9Y6H3 ATP23_HUMAN Homo sapiens XRCC6 binding protein 1 (XRCC6BP1), mRNA. 222 double-strand break repair via nonhomologous end joining DNA-dependent protein kinase-DNA ligase 4 complex DNA-dependent protein kinase activity|metal ion binding|metalloendopeptidase activity breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1) 11 TTGGAAGGATCCCACATAACA 0.353000 66 39 0 0 0.00111076 0 0 DCDC5 100506627 broad.mit.edu 37 11 31115625 31115625 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr11:31115625G>A uc009yjk.1 - 3 503 c.434C>T c.(433-435)cCt>cTt p.P145L DCDC5_uc009yjl.1_Missense_Mutation_p.P73L|DCDC5_uc001msu.2_Missense_Mutation_p.P316L NM_020869 NP_065920 Q6ZRR9 DCDC5_HUMAN Homo sapiens doublecortin domain containing 5 (DCDC5), mRNA. 0 intracellular signal transduction NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(17)|prostate(1)|stomach(1) 31 ACTGGCTACAGGCCACAGGAT 0.532000 51 64 0 0 0.00361006 0 0 GDPD4 220032 broad.mit.edu 37 11 76944136 76944136 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr11:76944136C>T uc001oyf.3 - 12 1574 c.1323G>A c.(1321-1323)agG>agA p.R441R NM_182833 NP_878253 Q6W3E5 GDPD4_HUMAN Homo sapiens glycerophosphodiester phosphodiesterase domain containing 4 (GDPD4), mRNA. 441 GDPD. glycerol metabolic process|lipid metabolic process integral to membrane glycerophosphodiester phosphodiesterase activity|metal ion binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1) 20 CTGAGTTAATCCTGGAGCACC 0.468000 18 27 0 0 0.001512 0 0 COL3A1 1281 broad.mit.edu 37 2 189873725 189873725 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:189873725G>A uc002uqj.1 + 47 3718 c.3601G>A c.(3601-3603)Gga>Aga p.G1201R NM_000090 NP_000081 P02461 CO3A1_HUMAN Homo sapiens collagen, type III, alpha 1 (COL3A1), mRNA. 1201 Nonhelical region (C-terminal). axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway collagen type III|extracellular space extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3) 126 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141) Collagenase(DB00048)|Palifermin(DB00039) TGGTGGTGTTGGAGCCGCTGC 0.542000 41 42 0 0 0.00195071 0 0 OR4P4 81300 broad.mit.edu 37 11 55406571 55406571 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr11:55406571C>T uc010rij.2 + 0 738 c.738C>T c.(736-738)gtC>gtT p.V246V NM_001004124 NP_001004124 Q8NGL7 OR4P4_HUMAN Homo sapiens olfactory receptor, family 4, subfamily P, member 4 (OR4P4), mRNA. 246 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|central_nervous_system(1)|kidney(4)|large_intestine(4)|lung(28)|ovary(1)|upper_aerodigestive_tract(1) 40 TTGTTGTGGTCCTGTTTTTTG 0.388000 75 47 0 0 0.00361006 0 0 TRAF7 84231 broad.mit.edu 37 16 2225900 2225900 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr16:2225900C>T uc002cow.3 + 17 1791 c.1692C>T c.(1690-1692)tcC>tcT p.S564S NM_032271 NP_115647 Q6Q0C0 TRAF7_HUMAN Homo sapiens TNF receptor-associated factor 7 (TRAF7), mRNA. 564 activation of MAPKKK activity|apoptosis|regulation of apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic membrane-bounded vesicle|ubiquitin ligase complex identical protein binding|ubiquitin-protein ligase activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(1) 23 GCGTCTACTCCATTGCTGTGA 0.572000 16 30 0 0 0.00178596 0 0 ZNF799 90576 broad.mit.edu 37 19 12502327 12502327 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:12502327G>A uc010dyt.3 - 3 1089 c.885C>T c.(883-885)tcC>tcT p.S295S ZNF799_uc002mts.4_Intron NM_001080821 NP_001074290 Q96GE5 ZN799_HUMAN Homo sapiens zinc finger protein 799 (ZNF799), mRNA. 295 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2) 19 GTCTTCGAAGGGAAGTGGAAG 0.433000 82 44 0 0 0.0025221 0 0 UNKL 64718 broad.mit.edu 37 16 1453339 1453339 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr16:1453339G>A uc010brn.2 - 2 307 c.294C>T c.(292-294)ccC>ccT p.P98P UNKL_uc002clq.3_Silent_p.P98P NM_001193388 NP_001180317 Q9H9P5 UNKL_HUMAN Homo sapiens unkempt homolog (Drosophila)-like (UNKL), transcript variant 1, mRNA. 98 cytoplasm|nucleus ligase activity|nucleic acid binding|zinc ion binding autonomic_ganglia(1)|endometrium(1)|large_intestine(1)|lung(1) 4 Hepatocellular(780;0.0893) GGTGCAGGTAGGGACACCTGG 0.617000 16 9 0 0 0.000673444 0 0 OR4L1 122742 broad.mit.edu 37 14 20528335 20528335 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr14:20528335C>T uc001vwn.1 + 0 132 c.132C>T c.(130-132)ctC>ctT p.L44L NM_001004717 NP_001004717 Q8NH43 OR4L1_HUMAN Homo sapiens olfactory receptor, family 4, subfamily L, member 1 (OR4L1), mRNA. 44 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(16)|ovary(2)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 all_cancers(95;0.00108) Epithelial(56;4.65e-07)|all cancers(55;2.9e-06) GBM - Glioblastoma multiforme(265;0.0064) GAAACATTCTCATTATGGTCA 0.398000 94 117 0 0 0.00361006 0 0 NTF3 4908 broad.mit.edu 37 12 5604142 5604142 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr12:5604142C>T uc001qnl.4 + 0 845 c.762C>T c.(760-762)atC>atT p.I254I NTF3_uc001qnk.4_Silent_p.I267I NM_002527 NP_002518 P20783 NTF3_HUMAN Homo sapiens neurotrophin 3 (NTF3), transcript variant 2, mRNA. 254 signal transduction extracellular region growth factor activity|neurotrophin receptor binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(3)|upper_aerodigestive_tract(1) 22 CGAGAAAAATCGGAAGAACAT 0.368000 19 6 0 0 0.00116845 0 0 FAM135B 51059 broad.mit.edu 37 8 139323149 139323149 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr8:139323149C>T uc003yuy.3 - 2 263 c.92G>A c.(91-93)cGa>cAa p.R31Q FAM135B_uc003yux.3_5'UTR|FAM135B_uc003yuz.3_Non-coding_Transcript NM_015912 NP_056996 Q49AJ0 F135B_HUMAN Homo sapiens family with sequence similarity 135, member B (FAM135B), mRNA. 31 p.R31L(6) NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 238 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) CAAGGTCACTCGGATCTGGTA 0.493000 HNSCC(54;0.14) 60 31 0 0 0.00178596 0 0 GRIN2A 2903 broad.mit.edu 37 16 9916154 9916154 + Missense_Mutation SNP C T T rs143031592 TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr16:9916154C>T uc010uym.2 - 10 2445 c.2135G>A c.(2134-2136)gGa>gAa p.G712E GRIN2A_uc002czo.4_Missense_Mutation_p.G712E|GRIN2A_uc010uyn.2_Missense_Mutation_p.G555E|GRIN2A_uc002czr.4_Missense_Mutation_p.G712E NM_000833 NP_001127879 Q12879 NMDE1_HUMAN Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA. 712 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.G712E(2) 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) GTCCTCTACTCCTTTCTGATT 0.458000 63 16 0 0 0.000566183 0 0 MUC16 94025 broad.mit.edu 37 19 9086177 9086177 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:9086177C>T uc002mkp.3 - 0 5842 c.5638G>A c.(5638-5640)Gat>Aat p.D1880N NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 1880 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 GAAGAGGTATCAGAGCCGTTT 0.507000 11 22 0 0 0.00278032 0 0 SLC4A5 57835 broad.mit.edu 37 2 74492337 74492337 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:74492337G>A uc002sko.1 - 3 458 c.456C>T c.(454-456)ccC>ccT p.P152P SLC4A5_uc002skl.3_Non-coding_Transcript|SLC4A5_uc002skn.3_Silent_p.P152P|SLC4A5_uc010ffc.1_Silent_p.P152P|SLC4A5_uc002skp.1_Silent_p.P88P|SLC4A5_uc002sks.1_Silent_p.P152P NM_021196 NP_067019 Q9BY07 S4A5_HUMAN Homo sapiens solute carrier family 4, sodium bicarbonate cotransporter, member 5 (SLC4A5), transcript variant a, mRNA. 152 apical plasma membrane|integral to membrane inorganic anion exchanger activity|sodium:bicarbonate symporter activity breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 48 TGGACACGTGGGGCTTGCTCC 0.592000 96 63 0 0 0.00361006 0 0 HERC2P2 400322 broad.mit.edu 37 15 23299951 23299951 + RNA SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr15:23299951G>A uc001yvq.2 - 3 c.1554C>T HERC2P2_uc001yvo.4_Non-coding_Transcript|HERC2P2_uc001yvp.4_Non-coding_Transcript Homo sapiens hect domain and RLD 2 pseudogene 2 (HERC2P2), non-coding RNA. GCACCAGTGAGAGACTTCAGG 0.577000 11 13 0 0 0.00316338 0 0 DSP 1832 broad.mit.edu 37 6 7569434 7569434 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr6:7569434G>A uc003mxp.1 + 11 1714 c.1435G>A c.(1435-1437)Ggg>Agg p.G479R DSP_uc003mxq.1_Missense_Mutation_p.G479R|DSP_uc021yle.1_Missense_Mutation_p.G479R NM_004415 NP_004406 P15924 DESP_HUMAN Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA. 479 Globular 1.|Interacts with plakophilin 1 and junction plakoglobin. cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural constituent of cytoskeleton biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5) 101 Ovarian(93;0.0584) all_hematologic(90;0.236) OV - Ovarian serous cystadenocarcinoma(45;0.000508) CGTGCATAAGGGGGATGAGTG 0.468000 116 32 0 0 0.000814825 0 0 GAD2 2572 broad.mit.edu 37 10 26508071 26508071 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr10:26508071C>T uc001isp.2 + 3 889 c.386C>T c.(385-387)tCa>tTa p.S129L GAD2_uc009xkr.3_Missense_Mutation_p.S129L|GAD2_uc001isq.2_Missense_Mutation_p.S129L NM_001134366 NP_001127838 Q05329 DCE2_HUMAN Homo sapiens glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa) (GAD2), transcript variant 2, mRNA. 129 glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion Golgi membrane|cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|presynaptic membrane glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 L-Glutamic Acid(DB00142) TTCGATAGATCAACCAAAGTG 0.403000 117 38 0 0 0.000953801 0 0 PAPSS1 9061 broad.mit.edu 37 4 108552847 108552847 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr4:108552847G>A uc003hyk.3 - 10 1760 c.1676C>T c.(1675-1677)cCc>cTc p.P559L NM_005443 NP_005434 O43252 PAPS1_HUMAN Homo sapiens 3'-phosphoadenosine 5'-phosphosulfate synthase 1 (PAPSS1), mRNA. 559 3'-phosphoadenosine 5'-phosphosulfate biosynthetic process|skeletal system development|sulfate assimilation|xenobiotic metabolic process cytosol ATP binding|adenylylsulfate kinase activity|sulfate adenylyltransferase (ATP) activity NS(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(5)|ovary(1) 16 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;5.49e-05) AACTCGAAAGGGAACTATTTC 0.428000 33 18 0 0 0.000958276 0 0 CPXM2 119587 broad.mit.edu 37 10 125521433 125521433 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr10:125521433C>T uc001lhk.1 - 10 2057 c.1732G>A c.(1732-1734)Gag>Aag p.E578K CPXM2_uc001lhj.3_Non-coding_Transcript NM_198148 NP_937791 Q8N436 CPXM2_HUMAN Homo sapiens carboxypeptidase X (M14 family), member 2 (CPXM2), mRNA. 578 cell adhesion|proteolysis extracellular space metallocarboxypeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3) 47 all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233) COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237) GTGCCCTCCTCCTTCTGGAAG 0.667000 0 17 0 0 0.000958276 0 0 CXorf27 25763 broad.mit.edu 37 X 37850232 37850232 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chrX:37850232C>T uc004ddt.4 + 0 163 c.140C>T c.(139-141)tCc>tTc p.S47F NM_012274 NP_036406 O75409 HYPM_HUMAN Homo sapiens chromosome X open reading frame 27 (CXorf27), mRNA. 47 DNA binding central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(2) 8 AGCCAGAGTTCCTCCACAATA 0.517000 4 27 0 0 0.00106085 0 0 BSN 8927 broad.mit.edu 37 3 49699171 49699171 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr3:49699171C>T uc003cxe.4 + 5 10007 c.9893C>T c.(9892-9894)cCc>cTc p.P3298L NM_003458 NP_003449 Q9UPA5 BSN_HUMAN Homo sapiens bassoon (presynaptic cytomatrix protein) (BSN), mRNA. 3298 synaptic transmission cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome metal ion binding breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 106 BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336) TCATACGATCCCCGCGGGAAG 0.602000 6 42 0 0 0.00195071 0 0 SIGLEC6 946 broad.mit.edu 37 19 52023467 52023467 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:52023467G>A uc002pwy.3 - 7 1439 c.1231C>T c.(1231-1233)Cct>Tct p.P411S SIGLEC6_uc002pwz.3_Missense_Mutation_p.P395S|SIGLEC6_uc010ydb.2_Missense_Mutation_p.P359S|SIGLEC6_uc010ydc.2_3'UTR|SIGLEC6_uc002pxa.3_Missense_Mutation_p.P352L|SIGLEC6_uc010eoz.2_Missense_Mutation_p.P341L NM_001245 NP_001236 O43699 SIGL6_HUMAN Homo sapiens sialic acid binding Ig-like lectin 6 (SIGLEC6), transcript variant 1, mRNA. 411 cell adhesion|cell-cell signaling cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1) 28 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165) GCCTCAGCAGGGTGGTCTGAA 0.512000 262 63 0 0 0.00361006 0 0 BC063132 0 broad.mit.edu 37 GL000241.1 34550 34550 + RNA SNP T C C TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chrGL000241.1:34550T>C uc011mgv.2 - 2 c.334A>G Homo sapiens cDNA clone IMAGE:4673444, containing frame-shift errors. cttatcttttttctttttctt 0.294000 48 4 0 0 0.000978159 0 0 GBX2 2637 broad.mit.edu 37 2 237074669 237074669 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:237074669G>A uc002vvw.1 - 1 973 c.935C>T c.(934-936)tCc>tTc p.S312F GBX2_uc010zng.1_3'UTR NM_001485 NP_001476 P52951 GBX2_HUMAN Homo sapiens gastrulation brain homeobox 2 (GBX2), mRNA. 312 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(1)|kidney(1)|large_intestine(1)|lung(4) 7 Breast(86;0.00235)|Renal(207;0.00339)|all_hematologic(139;0.00357)|all_lung(227;0.0616)|Acute lymphoblastic leukemia(138;0.0775)|Ovarian(221;0.089)|Lung NSC(271;0.179) Epithelial(121;4.5e-25)|OV - Ovarian serous cystadenocarcinoma(60;5.16e-11)|BRCA - Breast invasive adenocarcinoma(100;3.4e-05)|Lung(119;0.00195)|LUSC - Lung squamous cell carcinoma(224;0.00471) CCCTGTCTTGGAATTGGCATT 0.577000 38 54 0 0 0.00361006 0 0 GZMB 3002 broad.mit.edu 37 14 25102253 25102253 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr14:25102253C>T uc001wps.2 - 1 137 c.71G>A c.(70-72)gGa>gAa p.G24E GZMB_uc010ama.2_Missense_Mutation_p.G12E|GZMB_uc010amb.2_Non-coding_Transcript NM_004131 NP_004122 P10144 GRAB_HUMAN Homo sapiens granzyme B (granzyme 2, cytotoxic T-lymphocyte-associated serine esterase 1) (GZMB), mRNA. 24 Peptidase S1. activation of pro-apoptotic gene products|cleavage of lamin|cytolysis|induction of apoptosis by intracellular signals cytosol|immunological synapse|nucleus protein binding|serine-type endopeptidase activity p.G24E(2)|p.G58E(1) endometrium(2)|large_intestine(1)|lung(4)|stomach(4)|urinary_tract(2) 13 GBM - Glioblastoma multiforme(265;0.028) GGCCTCATGTCCCCCGATGAT 0.567000 88 70 0 0 0.00361006 0 0 KIR2DL5B 553128 broad.mit.edu 37 GL000209.1 91937 91937 + Splice_Site SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chrGL000209.1:91937G>A uc002quk.1 + 5 705 c.650_splice c.e5-1 p.G217_splice KIR2DL2_uc002qtt.2_Intron|KIR2DL2_uc002qty.3_Intron|KIR2DL2_uc021vdb.1_Intron|KIR2DL2_uc010yie.2_Intron NM_001018081 NP_001018091 Q8NHK4 Q8NHK4_HUMAN Homo sapiens killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 5B (KIR2DL5B), mRNA. 217 receptor activity TGTGTTCTAGGAAACTCTTCA 0.453000 135 20 0 0 0.00188189 0 0 OPN5 221391 broad.mit.edu 37 6 47754355 47754355 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr6:47754355G>A uc003ozc.3 + 1 263 c.235G>A c.(235-237)Gat>Aat p.D79N OPN5_uc003ozd.3_5'Flank NM_181744 NP_859528 Q6U736 OPN5_HUMAN Homo sapiens opsin 5 (OPN5), transcript variant 1, mRNA. 79 phototransduction|protein-chromophore linkage|visual perception integral to membrane G-protein coupled receptor activity|photoreceptor activity endometrium(1)|large_intestine(3)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2) 29 AGCAGTCTGTGATCTGGGGAT 0.418000 33 42 0 0 0.00361006 0 0 RPA3 6119 broad.mit.edu 37 7 7676679 7676679 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr7:7676679G>A uc003sri.3 - 7 1490 c.318C>T c.(316-318)atC>atT p.I106I NM_002947 NP_002938 P35244 RFA3_HUMAN Homo sapiens replication protein A3, 14kDa (RPA3), mRNA. 106 DNA recombinase assembly|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|cell cycle checkpoint|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA gap filling|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair DNA replication factor A complex|cytoplasm|nucleoplasm protein binding|single-stranded DNA binding endometrium(1)|kidney(1)|large_intestine(1)|lung(3) 6 Ovarian(82;0.0607) UCEC - Uterine corpus endometrioid carcinoma (126;0.202) GGAAGTCATGGATAATTTTCA 0.294000 Direct reversal of damage;Nucleotide excision repair (NER) 128 90 0 0 0.00361006 0 0 CTDP1 9150 broad.mit.edu 37 18 77477664 77477664 + Missense_Mutation SNP C T T rs138106090 TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr18:77477664C>T uc002lnh.2 + 8 2345 c.2198C>T c.(2197-2199)aCc>aTc p.T733I CTDP1_uc002lni.2_Missense_Mutation_p.T733I|CTDP1_uc010drd.2_Missense_Mutation_p.T733I|CTDP1_uc021ult.1_Missense_Mutation_p.T614I NM_004715 NP_001189433 Q9Y5B0 CTDP1_HUMAN Homo sapiens CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1 (CTDP1), transcript variant 1, mRNA. 733 positive regulation of viral transcription|protein dephosphorylation|transcription elongation from RNA polymerase II promoter|viral reproduction nucleoplasm CTD phosphatase activity|DNA-directed RNA polymerase activity autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(2)|urinary_tract(1) 35 Esophageal squamous(42;0.0157)|Melanoma(33;0.144) OV - Ovarian serous cystadenocarcinoma(15;5.2e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0277) GACGATCACACCAAGGCACAG 0.642000 49 26 0 0 0.00178596 0 0 GLIS1 148979 broad.mit.edu 37 1 54060392 54060392 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:54060392G>A uc001cvr.1 - 2 751 c.184C>T c.(184-186)Ctg>Ttg p.L62L NM_147193 NP_671726 Q8NBF1 GLIS1_HUMAN Homo sapiens GLIS family zinc finger 1 (GLIS1), mRNA. 62 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|zinc ion binding endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(3)|urinary_tract(4) 24 CACCGCTTCAGGCTGCCCTCG 0.697000 14 18 0 0 0.00152264 0 0 ADSS 159 broad.mit.edu 37 1 244587324 244587324 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:244587324G>A uc001iaj.3 - 5 829 c.512C>T c.(511-513)tCg>tTg p.S171L ADSS_uc009xgr.2_Non-coding_Transcript NM_001126 NP_001117 P30520 PURA2_HUMAN Homo sapiens adenylosuccinate synthase (ADSS), mRNA. 171 AMP biosynthetic process|immune system process|purine base metabolic process cytosol|plasma membrane GTP binding|adenylosuccinate synthase activity|magnesium ion binding|phosphate binding endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 12 all_cancers(71;2.17e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121) all_cancers(173;0.0896)|all_epithelial(177;0.172) all cancers(7;9.71e-08)|GBM - Glioblastoma multiforme(7;1.28e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.0014) L-Aspartic Acid(DB00128) AGCTTTGGACGAATAAACTGG 0.423000 14 24 0 0 0.000720815 0 0 DHX9 1660 broad.mit.edu 37 1 182852480 182852480 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:182852480C>T uc001gpr.3 + 24 3296 c.3121C>T c.(3121-3123)Ccc>Tcc p.P1041S DHX9_uc001gps.3_Missense_Mutation_p.P827S|DHX9_uc001gpt.3_Missense_Mutation_p.P320S|DHX9_uc009wyd.3_Missense_Mutation_p.P6S NM_001357 NP_001348 Q08211 DHX9_HUMAN Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 9 (DHX9), transcript variant 1, mRNA. 1041 CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome CRD-mediated mRNA stability complex|centrosome|nucleolus|nucleoplasm|ribonucleoprotein complex ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2) 49 GTACCCATCTCCCTTCTTTGT 0.343000 19 26 0 0 0.00178596 0 0 PCDHAC2 56134 broad.mit.edu 37 5 140202001 140202001 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr5:140202001C>T uc003lhl.2 + 0 641 c.641C>T c.(640-642)aCt>aTt p.T214I PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhk.1_Missense_Mutation_p.T214I|PCDHAC2_uc003lhj.1_Missense_Mutation_p.T214I NM_018908 NP_061731 Q9Y5I4 PCDC2_HUMAN Homo sapiens protocadherin alpha 5 (PCDHA5), transcript variant 1, mRNA. 230 Cadherin 2. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding p.T214S(2) NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 45 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GTGATTGCAACTGATGGAGGA 0.348000 35 57 0 0 0.00361006 0 0 GRIK1 2897 broad.mit.edu 37 21 30949459 30949459 + Missense_Mutation SNP C A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr21:30949459C>A uc002yno.1 - 13 2419 c.1955G>T c.(1954-1956)gGa>gTa p.G652V GRIK1_uc002ynn.3_Missense_Mutation_p.G637V|GRIK1_uc011acs.2_Missense_Mutation_p.G652V|GRIK1_uc011act.2_Missense_Mutation_p.G513V NM_000830 NP_000821 P39086 GRIK1_HUMAN Homo sapiens glutamate receptor, ionotropic, kainate 1 (GRIK1), transcript variant 1, mRNA. 652 central nervous system development|synaptic transmission cell junction|postsynaptic membrane kainate selective glutamate receptor activity NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1) 45 L-Glutamic Acid(DB00142)|Topiramate(DB00273) CCATATCCCTCCAACTATTCT 0.458000 72 24 7.92952e-12 2.30993e-11 0.00395357 1 0 NR6A1 2649 broad.mit.edu 37 9 127298251 127298251 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr9:127298251G>A uc004bor.1 - 6 1163 c.985C>T c.(985-987)Ctg>Ttg p.L329L NR6A1_uc004boq.1_Silent_p.L324L|NR6A1_uc010mwq.1_Silent_p.L325L NM_033334 NP_201591 Q15406 NR6A1_HUMAN Homo sapiens nuclear receptor subfamily 6, group A, member 1 (NR6A1), transcript variant 1, mRNA. 329 cell proliferation|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|spermatogenesis transcription factor complex protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding NS(1)|breast(1)|cervix(1)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1) 17 GAAGACAGCAGGATTAGCTCC 0.512000 7 44 0 0 0.00222228 0 0 ADAMTS16 170690 broad.mit.edu 37 5 5190095 5190095 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr5:5190095G>A uc003jdl.3 + 6 1197 c.1059G>A c.(1057-1059)gtG>gtA p.V353V ADAMTS16_uc003jdk.1_Silent_p.V353V|ADAMTS16_uc003jdj.1_Silent_p.V353V NM_139056 NP_620687 Q8TE57 ATS16_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 16 (ADAMTS16), mRNA. 353 Peptidase M12B. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding p.V353M(1) 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 CAGGACTGGTGATAAGTCACC 0.473000 60 45 0 0 0.00361006 0 0 GRIN2B 2904 broad.mit.edu 37 12 13761666 13761666 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr12:13761666G>A uc001rbt.2 - 8 2060 c.1881C>T c.(1879-1881)acC>acT p.T627T NM_000834 NP_000825 Q13224 NMDE2_HUMAN Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2B (GRIN2B), mRNA. 627 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|glycine binding|zinc ion binding NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1) 143 Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) TGATCTTGGAGGTGGTCCCCT 0.522000 26 24 0 0 0.00106085 0 0 SCTR 6344 broad.mit.edu 37 2 120252038 120252038 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:120252038C>T uc002tma.3 - 1 385 c.159G>A c.(157-159)caG>caA p.Q53Q NM_002980 NP_002971 P47872 SCTR_HUMAN Homo sapiens secretin receptor (SCTR), mRNA. 53 digestion|excretion integral to plasma membrane secretin receptor activity p.Q53*(1) central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3) 19 Secretin(DB00021) GGTCTCCTGTCTGCTCTCTGG 0.602000 20 15 0 0 0.00244969 0 0 MUC1 4582 broad.mit.edu 37 1 155160214 155160214 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:155160214C>T uc021pap.1 - 5 1164 c.1092G>A c.(1090-1092)acG>acA p.T364T MUC1_uc001fhz.3_Silent_p.T60T|MUC1_uc001fhy.3_Silent_p.T60T|MUC1_uc010pfb.2_Silent_p.T60T|MUC1_uc010pfh.2_Silent_p.T206T|MUC1_uc010pff.2_Intron|MUC1_uc010pfi.2_Silent_p.T206T|MUC1_uc010pfj.2_Silent_p.T230T|MUC1_uc010pfk.2_Non-coding_Transcript|MUC1_uc010pfl.2_Non-coding_Transcript|MUC1_uc010pfc.2_Non-coding_Transcript|MUC1_uc009wph.3_Silent_p.T60T|MUC1_uc010pfe.2_Non-coding_Transcript|MUC1_uc009wpi.3_Silent_p.T60T|MUC1_uc010pfg.2_Intron|MUC1_uc010pfd.2_Intron|MUC1_uc009wpy.3_Intron|MUC1_uc009wpu.3_Intron|MUC1_uc010pfm.2_Silent_p.T60T|MUC1_uc001fiq.3_Silent_p.T60T|MUC1_uc009wqa.3_Silent_p.T218T|MUC1_uc010pfn.2_Silent_p.T135T|MUC1_uc009wpn.3_Silent_p.T144T|MUC1_uc010pfo.2_Intron|MUC1_uc009wpw.3_Intron|MUC1_uc001fim.3_Intron|MUC1_uc001fil.3_Intron|MUC1_uc010pfp.2_Intron|MUC1_uc001fij.3_Silent_p.T144T|MUC1_uc009wqc.3_Silent_p.T132T|MUC1_uc009wqd.3_Silent_p.T156T|MUC1_uc001fia.3_Silent_p.T135T|MUC1_uc009wqb.3_Silent_p.T60T|MUC1_uc009wpx.3_Silent_p.T119T|MUC1_uc010pfq.2_Silent_p.T132T|MUC1_uc001fid.3_Silent_p.T110T|MUC1_uc001fit.3_Silent_p.T60T|MUC1_uc009wpz.3_Silent_p.T162T|MUC1_uc001fii.3_Intron|MUC1_uc001fik.3_Silent_p.T153T|MUC1_uc009wpo.3_Silent_p.T97T|MUC1_uc010pfr.2_Intron|MUC1_uc001fih.3_Intron|MUC1_uc001fio.3_Intron|MUC1_uc009wqe.3_Intron|MUC1_uc009wpl.3_Intron|MUC1_uc009wpp.3_Intron|MUC1_uc009wpm.3_Silent_p.T153T|MUC1_uc009wpk.3_Silent_p.T82T|MUC1_uc010pfs.2_Non-coding_Transcript|MUC1_uc001fip.3_Intron|MUC1_uc021paq.1_Silent_p.T355T|MUC1_uc009wqg.3_Silent_p.T91T|MUC1_uc009wqf.3_Intron|MUC1_uc001fic.3_Silent_p.T109T|MUC1_uc009wps.3_Silent_p.T118T|MUC1_uc001fie.3_Intron|MUC1_uc009wpt.3_Silent_p.T121T|MUC1_uc009wpq.3_Silent_p.T123T|MUC1_uc009wpr.3_Intron|MUC1_uc001fig.3_Intron|MUC1_uc001fif.3_Intron|MUC1_uc001fin.3_Intron|MUC1_uc009wpj.3_Intron|MUC1_uc009wpv.3_Intron|MUC1_uc001fib.3_Intron|MUC1_uc001fis.2_Intron|DM075093_uc021par.1_5'Flank NM_001204286 NP_001191215 P15941 MUC1_HUMAN Homo sapiens mucin 1, cell surface associated (MUC1), transcript variant 10, mRNA. 1135 42 X 20 AA approximate tandem repeats of P-A-P-G-S-T-A-P-P-A-H-G-V-T-S-A-P-D-T-R. apical plasma membrane|cell surface|cytoplasm|extracellular region|integral to plasma membrane|nucleus protein binding breast(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|skin(2) 10 all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) Epithelial(20;5.31e-10)|all cancers(21;2.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193) CGTCTGAGATCGTCAGGTTAT 0.552000 T IGH@ B-NHL 32 16 0 0 0.000958276 0 0 GPRC5B 51704 broad.mit.edu 37 16 19883558 19883558 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr16:19883558G>A uc010vav.2 - 1 919 c.688C>T c.(688-690)Ctc>Ttc p.L230F GPRC5B_uc021tef.1_Missense_Mutation_p.L196F|GPRC5B_uc002dgt.3_Missense_Mutation_p.L204F NM_016235 NP_057319 Q9NZH0 GPC5B_HUMAN Homo sapiens G protein-coupled receptor, family C, group 5, member B (GPRC5B), mRNA. 204 breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 25 TCGTAGATGAGGGCCATCACA 0.602000 66 24 0 0 0.00106085 0 0 DUOX2 50506 broad.mit.edu 37 15 45393430 45393430 + Missense_Mutation SNP G A A rs144153950 TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr15:45393430G>A uc001zun.3 - 21 3097 c.2894C>T c.(2893-2895)tCg>tTg p.S965L DUOX2_uc010bea.3_Missense_Mutation_p.S965L NM_014080 NP_054799 Q9NRD8 DUOX2_HUMAN Homo sapiens dual oxidase 2 (DUOX2), mRNA. 965 Interaction with TXNDC11 (By similarity). 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) AGTGATGAACGAGACTCGACA 0.542000 14 8 0 0 0.00307968 0 0 FPR3 2359 broad.mit.edu 37 19 52327322 52327322 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:52327322C>T uc002pxt.1 + 1 505 c.321C>T c.(319-321)atC>atT p.I107I FPR3_uc021uyq.1_Silent_p.I107I NM_002030 NP_002021 P25089 FPR3_HUMAN Homo sapiens formyl peptide receptor 3 (FPR3), mRNA. 107 cellular component movement|chemotaxis integral to membrane|plasma membrane N-formyl peptide receptor activity NS(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3) 35 TGATAGACATCAACCTGTTTG 0.478000 88 11 0 0 0.00136819 0 0 PSMA1 5682 broad.mit.edu 37 11 14526784 14526784 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr11:14526784G>A uc001mll.3 - 10 1109 c.764C>T c.(763-765)cCt>cTt p.P255L PSMA1_uc010rcp.1_Non-coding_Transcript|PSMA1_uc001mlk.3_Missense_Mutation_p.P249L NM_148976 NP_683877 P25786 PSA1_HUMAN Homo sapiens proteasome (prosome, macropain) subunit, alpha type, 1 (PSMA1), transcript variant 1, mRNA. 249 DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|viral reproduction cytoplasm|nucleus|polysome|proteasome core complex, alpha-subunit complex RNA binding|protein binding|threonine-type endopeptidase activity large_intestine(1)|skin(1)|upper_aerodigestive_tract(1) 3 TTCATCAGCAGGTTGAGCAGG 0.323000 104 41 0 0 0.00361006 0 0 APOB 338 broad.mit.edu 37 2 21233672 21233673 + Missense_Mutation DNP GG TT TT TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:21233672_21233673GG>TT uc002red.3 - 25 6195_6196 c.6067_6068CC>AA c.(6067-6069)cca>AAa p.P2023K NM_000384 NP_000375 P04114 APOB_HUMAN Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA. 2023 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) CACTTTAATTGGGGAGTCTAGT 0.426000 511 13 0 0 6.4e-05 0 0 ACSBG2 81616 broad.mit.edu 37 19 6147620 6147620 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:6147620G>A uc002mef.1 + 2 458 c.231G>A c.(229-231)aaG>aaA p.K77K ACSBG2_uc002mee.1_5'UTR|ACSBG2_uc002meg.1_Silent_p.K77K|ACSBG2_uc002meh.1_Silent_p.K77K|ACSBG2_uc002mei.1_Silent_p.K27K|ACSBG2_uc010xiz.1_Silent_p.K77K NM_030924 NP_112186 Q5FVE4 ACBG2_HUMAN Homo sapiens acyl-CoA synthetase bubblegum family member 2 (ACSBG2), mRNA. 77 cell differentiation|fatty acid metabolic process|multicellular organismal development|spermatogenesis membrane|microsome|mitochondrion ATP binding|acyl-CoA thioesterase activity|long-chain fatty acid-CoA ligase activity breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(3)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 ATGGCAAAAAGTGGGAAATTC 0.443000 135 45 0 0 0.00361006 0 0 PLCL1 5334 broad.mit.edu 37 2 198950799 198950799 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:198950799G>A uc010fsp.3 + 1 2956 c.2558G>A c.(2557-2559)gGa>gAa p.G853E PLCL1_uc002uuv.4_Missense_Mutation_p.G774E NM_006226 NP_006217 Q15111 PLCL1_HUMAN Homo sapiens phospholipase C-like 1 (PLCL1), mRNA. 853 intracellular signal transduction|lipid metabolic process cytoplasm calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 80 Quinacrine(DB01103) CGAAGTGGAGGAGGAAAGGCA 0.463000 22 19 0 0 0.00121646 0 0 LILRP2 79166 broad.mit.edu 37 19 55221331 55221331 + RNA SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:55221331C>T uc002qgs.1 + 0 c.1731C>T LILRP2_uc002qgt.1_Intron Homo sapiens leukocyte immunoglobulin-like receptor pseudogene 2 (LILRP2), non-coding RNA. ACTCTTCTTTCCCTCCAGGCG 0.622000 29 5 0 0 0.000602214 0 0 SAP130 79595 broad.mit.edu 37 2 128774043 128774043 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:128774043G>A uc010fmd.2 - 3 637 c.505C>T c.(505-507)Cca>Tca p.P169S SAP130_uc002tpp.2_Missense_Mutation_p.P169S|SAP130_uc002tpq.1_Missense_Mutation_p.P143S NM_001145928 NP_001139400 Q9H0E3 SP130_HUMAN Homo sapiens Sin3A-associated protein, 130kDa (SAP130), transcript variant 1, mRNA. 169 Pro-rich. histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent STAGA complex transcription coactivator activity NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2) 45 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0771) ACCTGCCCTGGAACCTTGGGG 0.527000 37 35 0 0 0.000953801 0 0 MIIP 60672 broad.mit.edu 37 1 12082369 12082369 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:12082369C>T uc001ato.2 + 2 725 c.332C>T c.(331-333)cCc>cTc p.P111L NM_021933 NP_068752 Q5JXC2 MIIP_HUMAN Homo sapiens migration and invasion inhibitory protein (MIIP), mRNA. 111 autonomic_ganglia(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(1) 15 CGACCGAGACCCCACTCAGCA 0.682000 4 47 0 0 0.00361006 0 0 IFNB1 3456 broad.mit.edu 37 9 21077570 21077570 + Nonsense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr9:21077570C>T uc003zok.3 - 0 374 c.299G>A c.(298-300)tGg>tAg p.W100* NM_002176 NP_002167 P01574 IFNB_HUMAN Homo sapiens interferon, beta 1, fibroblast (IFNB1), mRNA. 100 B cell proliferation|activation of caspase activity|blood coagulation|cellular response to exogenous dsRNA|defense response to virus|induction of apoptosis|natural killer cell activation|negative regulation of T cell differentiation|negative regulation of T-helper 2 cell cytokine production|negative regulation of cell proliferation|negative regulation of viral genome replication|negative regulation of viral transcription|negative regulation of virion penetration into host cell|positive regulation of innate immune response|positive regulation of transcription from RNA polymerase II promoter|regulation of MHC class I biosynthetic process|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway extracellular space cytokine activity|interferon-alpha/beta receptor binding|transcription corepressor activity breast(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(1) 12 GBM - Glioblastoma multiforme(5;7.45e-142)|Lung(24;2.42e-17)|LUSC - Lung squamous cell carcinoma(38;7.17e-11) Interferon beta-1a(DB00060)|Interferon beta-1b(DB00068) AGTCTCATTCCAGCCAGTGCT 0.443000 9 71 0 0 0.00361006 0 0 MIR1324 100302212 broad.mit.edu 37 3 75679929 75679929 + RNA SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr3:75679929G>A uc021xar.1 + 0 c.16G>A Homo sapiens microRNA 1324 (MIR1324), microRNA. AGAGGTGCATGAAGCCTGGTC 0.562000 39 9 0 0 0.000978159 0 0 SCAND3 114821 broad.mit.edu 37 6 28543477 28543477 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr6:28543477C>T uc003nlo.3 - 2 1623 c.1005G>A c.(1003-1005)aaG>aaA p.K335K NM_052923 NP_443155 Q6R2W3 SCND3_HUMAN Homo sapiens SCAN domain containing 3 (SCAND3), mRNA. 335 DNA integration|viral reproduction nucleus DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3) 71 TTGTGATGTTCTTGTATTTCG 0.368000 101 101 0 0 0.00361006 0 0 PHF8 23133 broad.mit.edu 37 X 54022212 54022212 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chrX:54022212G>A uc004dsu.3 - 11 1591 c.1345C>T c.(1345-1347)Ctg>Ttg p.L449L PHF8_uc004dsv.3_Silent_p.L279L|PHF8_uc004dst.3_Silent_p.L413L|PHF8_uc004dsw.3_Silent_p.L413L|PHF8_uc004dsx.3_Silent_p.L177L|PHF8_uc004dsy.3_Silent_p.L413L NM_001184896 NP_055922 Q9UPP1 PHF8_HUMAN Homo sapiens PHD finger protein 8 (PHF8), transcript variant 1, mRNA. 449 G1/S transition of mitotic cell cycle|brain development|negative regulation of chromatin silencing at rDNA|positive regulation of transcription from RNA polymerase I promoter|transcription, DNA-dependent nucleolus chromatin binding|histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 40 TGGTCTGGCAGAGCCTGTCAA 0.483000 3 13 0 0 0.00185496 0 0 MUC4 4585 broad.mit.edu 37 3 195517616 195517616 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr3:195517616C>T uc021xjp.1 - 1 991 c.835G>A c.(835-837)Gag>Aag p.E279K MUC4_uc003fvo.3_Intron|MUC4_uc003fvp.3_Intron|MUC4_uc021xjq.1_Missense_Mutation_p.E161K NM_018406 NP_060876 Q99102 MUC4_HUMAN Homo sapiens mucin 4, cell surface associated (MUC4), transcript variant 1, mRNA. 284 cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity p.F279F(1) 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) GATGATGTCTCCCCTGGGTTT 0.468000 39 52 0 0 0.00361006 0 0 ALPK2 115701 broad.mit.edu 37 18 56204337 56204337 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr18:56204337G>A uc002lhj.4 - 4 3296 c.3082C>T c.(3082-3084)Cct>Tct p.P1028S ALPK2_uc002lhk.1_Missense_Mutation_p.P359S NM_052947 NP_443179 Q86TB3 ALPK2_HUMAN Homo sapiens alpha-kinase 2 (ALPK2), mRNA. 1028 ATP binding|protein serine/threonine kinase activity p.P1028T(1)|p.P389T(1) 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 TTGTCCTCAGGAATTGACACA 0.483000 59 41 0 0 0.00222228 0 0 FAM163A 148753 broad.mit.edu 37 1 179783223 179783223 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:179783223C>T uc009wxj.3 + 5 862 c.403C>T c.(403-405)Cca>Tca p.P135S FAM163A_uc001gnj.3_Missense_Mutation_p.P135S|FAM163A_uc009wxk.3_Missense_Mutation_p.P135S NM_173509 NP_775780 Q96GL9 F163A_HUMAN Homo sapiens family with sequence similarity 163, member A (FAM163A), mRNA. 135 integral to membrane endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(1) 15 GGGGGGACCCCCATCCCTCAA 0.587000 34 44 0 0 0.0025221 0 0 COL7A1 1294 broad.mit.edu 37 3 48614144 48614144 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr3:48614144G>A uc003ctz.2 - 66 5666 c.5665C>T c.(5665-5667)Cca>Tca p.P1889S NM_000094 NP_000085 Q02388 CO7A1_HUMAN Homo sapiens collagen, type VII, alpha 1 (COL7A1), mRNA. 1889 Triple-helical region. cell adhesion|epidermis development basement membrane|collagen type VII protein binding|serine-type endopeptidase inhibitor activity NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5) 137 BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) GGGAGGCCTGGAGGCCCCTGG 0.612000 0 16 0 0 0.00074312 0 0 UBIAD1 29914 broad.mit.edu 37 1 11334047 11334047 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:11334047C>T uc001asg.3 + 0 793 c.459C>T c.(457-459)tcC>tcT p.S153S NM_013319 NP_037451 Q9Y5Z9 UBIA1_HUMAN Homo sapiens UbiA prenyltransferase domain containing 1 (UBIAD1), mRNA. 153 menaquinone biosynthetic process endoplasmic reticulum membrane|integral to membrane|mitochondrion|nucleus prenyltransferase activity endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(3) 12 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.000818)|all_lung(284;0.00105)|Colorectal(325;0.0062)|Breast(348;0.012)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.52e-06)|COAD - Colon adenocarcinoma(227;0.000254)|BRCA - Breast invasive adenocarcinoma(304;0.000299)|Kidney(185;0.000754)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0487) ACTACCTGTCCCCTCTGAAAC 0.557000 11 43 0 0 0.00361006 0 0 FBXO27 126433 broad.mit.edu 37 19 39521915 39521915 + Missense_Mutation SNP A C C TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:39521915A>C uc002okh.3 - 2 492 c.410T>G c.(409-411)gTg>gGg p.V137G NM_178820 NP_849142 Q8NI29 FBX27_HUMAN Homo sapiens F-box protein 27 (FBXO27), mRNA. 137 FBA. protein catabolic process SCF ubiquitin ligase complex glycoprotein binding p.V137G(4) cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|ovary(1)|urinary_tract(2) 17 all_cancers(60;3.79e-07)|all_lung(34;1.26e-07)|Lung NSC(34;1.46e-07)|all_epithelial(25;4.69e-07)|Ovarian(47;0.0454) Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554) TTCCTCCACCACCCAGCCGTC 0.577000 48 7 0 0 0.000978159 0 0 VOPP1 81552 broad.mit.edu 37 7 55588791 55588791 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr7:55588791G>A uc003tqs.3 - 1 270 c.87C>T c.(85-87)ttC>ttT p.F29F VOPP1_uc003tqq.3_Silent_p.F20F|VOPP1_uc010kzh.3_Silent_p.F26F|VOPP1_uc010kzi.3_Silent_p.F12F|VOPP1_uc011kcr.2_5'UTR NM_030796 NP_110423 Q96AW1 VOPP1_HUMAN Homo sapiens vesicular, overexpressed in cancer, prosurvival protein 1 (VOPP1), mRNA. 29 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic vesicle membrane|endosome|integral to organelle membrane signal transducer activity endometrium(1)|lung(4) 5 AGAGTCCTTCGAAATACCAGC 0.398000 4 4 0 0 0.000602214 0 0 MAP4K1 11184 broad.mit.edu 37 19 39100614 39100614 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:39100614G>A uc002oix.1 - 11 970 c.862C>T c.(862-864)Ctt>Ttt p.L288F MAP4K1_uc002oiy.1_Missense_Mutation_p.L288F|MAP4K1_uc010xug.2_5'UTR NM_007181 NP_009112 Q92918 M4K1_HUMAN Homo sapiens mitogen-activated protein kinase kinase kinase kinase 1 (MAP4K1), transcript variant 2, mRNA. 288 activation of JUN kinase activity|peptidyl-serine phosphorylation ATP binding|MAP kinase kinase kinase kinase activity|protein binding|small GTPase regulator activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(24)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1) 44 all_cancers(60;6.42e-06)|Ovarian(47;0.103) Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272) AGTTTGTCAAGAAGATCCAGG 0.572000 23 14 0 0 0.000422831 0 0 KIF4B 285643 broad.mit.edu 37 5 154396321 154396321 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr5:154396321G>A uc010jih.1 + 0 3062 c.2902G>A c.(2902-2904)Gaa>Aaa p.E968K NM_001099293 NP_001092763 Q2VIQ3 KIF4B_HUMAN Homo sapiens kinesin family member 4B (KIF4B), mRNA. 968 Interaction with PRC1 (By similarity). axon guidance|blood coagulation|microtubule-based movement cytosol|microtubule|nuclear matrix ATP binding|DNA binding|microtubule motor activity breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1) 58 Renal(175;0.00488) Medulloblastoma(196;0.0523) KIRC - Kidney renal clear cell carcinoma(527;0.00112) GTGTCAGGATGAAGAACTTGA 0.478000 38 24 0 0 0.00127121 0 0 MYT1L 23040 broad.mit.edu 37 2 1893050 1893050 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:1893050G>A uc002qxe.3 - 15 3310 c.2483C>T c.(2482-2484)cCc>cTc p.P828L MYT1L_uc002qxd.3_Missense_Mutation_p.P826L|MYT1L_uc010ewl.2_Non-coding_Transcript NM_015025 NP_055840 Q9UL68 MYT1L_HUMAN Homo sapiens myelin transcription factor 1-like (MYT1L), mRNA. 828 cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 97 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.037)|all_epithelial(98;0.241) OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244) TATCCTCCGGGGTTTCATTTT 0.542000 43 14 0 0 0.00121646 0 0 ARHGEF17 9828 broad.mit.edu 37 11 73021159 73021159 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr11:73021159G>A uc001otu.3 + 0 1497 c.1476G>A c.(1474-1476)ggG>ggA p.G492G NM_014786 NP_055601 Q96PE2 ARHGH_HUMAN Homo sapiens Rho guanine nucleotide exchange factor (GEF) 17 (ARHGEF17), mRNA. 492 actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol Rho guanyl-nucleotide exchange factor activity endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2) 32 AACCTGGTGGGAGCTCCGGGG 0.597000 25 27 0 0 0.0024448 0 0 PCDH19 57526 broad.mit.edu 37 X 99551454 99551454 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chrX:99551454G>A uc010nmz.3 - 5 4944 c.3268C>T c.(3268-3270)Cca>Tca p.P1090S PCDH19_uc004efw.4_Missense_Mutation_p.P1042S|PCDH19_uc004efx.4_Missense_Mutation_p.P1043S NM_001184880 NP_001171809 Q8TAB3 PCD19_HUMAN Homo sapiens protocadherin 19 (PCDH19), transcript variant 3, mRNA. 1090 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 68 TCACGGGCTGGGGGAGCCAGG 0.577000 5 28 0 0 0.00106085 0 0 NLRP7 199713 broad.mit.edu 37 19 55451005 55451005 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:55451005G>A uc002qih.4 - 3 1258 c.1182C>T c.(1180-1182)ttC>ttT p.F394F NLRP7_uc010esk.3_Silent_p.F394F|NLRP7_uc002qig.4_Silent_p.F394F|NLRP7_uc002qii.4_Silent_p.F394F|NLRP7_uc010esl.3_Silent_p.F422F NM_206828 NP_996611 Q8WX94 NALP7_HUMAN Homo sapiens NLR family, pyrin domain containing 7 (NLRP7), transcript variant 2, mRNA. 394 NACHT. ATP binding autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 73 GBM - Glioblastoma multiforme(193;0.0325) GGAAACGCAGGAACAGCCCCG 0.711000 20 8 0 0 0.000274275 0 0 PDE4B 5142 broad.mit.edu 37 1 66713166 66713166 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:66713166C>T uc001dcn.3 + 3 496 c.305C>T c.(304-306)tCc>tTc p.S102F PDE4B_uc009war.3_Missense_Mutation_p.S10F|PDE4B_uc001dco.3_Missense_Mutation_p.S102F|PDE4B_uc001dcp.3_Missense_Mutation_p.S87F NM_001037341 NP_002591 Q07343 PDE4B_HUMAN Homo sapiens phosphodiesterase 4B, cAMP-specific (PDE4B), transcript variant d, mRNA. 102 signal transduction cytosol|insoluble fraction|soluble fraction 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3) 37 Adenosine monophosphate(DB00131)|Amrinone(DB01427)|Caffeine(DB00201)|Cilostazol(DB01166)|Dyphylline(DB00651)|Enprofylline(DB00824)|Papaverine(DB01113)|Pentoxifylline(DB00806)|Theophylline(DB00277) AATGGCCCTTCCCCAGGTCGG 0.532000 89 175 0 0 0.00361006 0 0 IL4R 3566 broad.mit.edu 37 16 27374181 27374181 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr16:27374181C>T uc002don.3 + 10 1750 c.1508C>T c.(1507-1509)tCc>tTc p.S503F IL4R_uc002dop.4_Missense_Mutation_p.S488F|IL4R_uc010bxy.3_Missense_Mutation_p.S503F|IL4R_uc002doo.3_Missense_Mutation_p.S343F NM_000418 NP_000409 P24394 IL4RA_HUMAN Homo sapiens interleukin 4 receptor (IL4R), transcript variant 1, mRNA. 503 Required for IRS1 activation and IL4- induced cell growth. S -> P (lowered total IgE concentration; dbSNP:rs1805015). immune response|production of molecular mediator involved in inflammatory response integral to plasma membrane identical protein binding|interleukin-4 receptor activity|receptor signaling protein activity breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1) 33 TTCAGCAACTCCCTGAGCCAG 0.627000 29 50 0 0 0.00361006 0 0 ADAMDEC1 27299 broad.mit.edu 37 8 24251634 24251634 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr8:24251634G>A uc003xdz.2 + 3 557 c.337G>A c.(337-339)Gaa>Aaa p.E113K ADAMDEC1_uc010lub.2_Missense_Mutation_p.E34K|ADAMDEC1_uc011lab.1_Missense_Mutation_p.E34K NM_014479 NP_001138744 O15204 ADEC1_HUMAN Homo sapiens ADAM-like, decysin 1 (ADAMDEC1), transcript variant 1, mRNA. 113 integrin-mediated signaling pathway|negative regulation of cell adhesion|proteolysis extracellular region|integral to membrane integrin binding|metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|large_intestine(4)|skin(2)|stomach(1) 9 Prostate(55;0.0181) Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168) CAGAGGAGAGGAAATTACCAC 0.453000 14 8 0 0 0.00307968 0 0 HEPH 9843 broad.mit.edu 37 X 65486392 65486392 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chrX:65486392C>T uc011moz.2 + 20 3654 c.3517C>T c.(3517-3519)Ctt>Ttt p.L1173F HEPH_uc004dwn.3_Missense_Mutation_p.L1121F|HEPH_uc004dwo.3_Missense_Mutation_p.L852F|HEPH_uc010nkr.3_Missense_Mutation_p.L930F|HEPH_uc011mpa.2_Missense_Mutation_p.L1122F NM_138737 NP_055614 Q9BQS7 HEPH_HUMAN Homo sapiens hephaestin (HEPH), transcript variant 1, mRNA. 1119 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 TAGTGTCACCCTTCTGCTCGT 0.488000 1 35 0 0 0.000953801 0 0 OR51E2 81285 broad.mit.edu 37 11 4703277 4703277 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr11:4703277C>T uc001lzk.2 - 1 909 c.665G>A c.(664-666)cGa>cAa p.R222Q OR51E2_uc021qcr.1_Missense_Mutation_p.R222Q NM_030774 NP_110401 Q9H255 O51E2_HUMAN Homo sapiens olfactory receptor, family 51, subfamily E, member 2 (OR51E2), mRNA. 222 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) CAGAACCGTTCGTATTATCAG 0.488000 26 18 0 0 0.00121646 0 0 CENPJ 55835 broad.mit.edu 37 13 25479569 25479569 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr13:25479569G>A uc001upt.4 - 6 2860 c.2607C>T c.(2605-2607)ttC>ttT p.F869F CENPJ_uc010tdf.2_Non-coding_Transcript|CENPJ_uc010aaf.3_Non-coding_Transcript|CENPJ_uc001upu.3_5'Flank NM_018451 NP_060921 Q9HC77 CENPJ_HUMAN Homo sapiens centromere protein J (CENPJ), mRNA. 869 G2/M transition of mitotic cell cycle|cell division|centriole replication|microtubule nucleation|microtubule polymerization centriole|cytosol|gamma-tubulin small complex|microtubule protein domain specific binding|tubulin binding endometrium(5)|kidney(4)|large_intestine(14)|lung(13)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 Lung SC(185;0.0225)|Breast(139;0.0602) all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139) AAGAAGGAAAGAATTTCATCA 0.423000 27 48 0 0 0.00361006 0 0 CALR3 125972 broad.mit.edu 37 19 16594862 16594862 + Missense_Mutation SNP A G G TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:16594862A>G uc002ned.2 - 4 620 c.557T>C c.(556-558)aTt>aCt p.I186T MED26_uc002nee.2_Intron NM_145046 NP_659483 Q96L12 CALR3_HUMAN Homo sapiens calreticulin 3 (CALR3), mRNA. 186 N-domain. protein folding endoplasmic reticulum lumen calcium ion binding|sugar binding|unfolded protein binding NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|prostate(1)|skin(1) 15 CTGACCATCAATTTTCACATC 0.413000 16 25 0 0 0.00106085 0 0 OR4A47 403253 broad.mit.edu 37 11 48510455 48510455 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr11:48510455G>A uc010rhx.2 + 0 111 c.111G>A c.(109-111)atG>atA p.M37I NM_001005512 NP_001005512 Q6IF82 O4A47_HUMAN Homo sapiens olfactory receptor, family 4, subfamily A, member 47 (OR4A47), mRNA. 37 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 TTTTGACCATGGTGGGCAACC 0.418000 8 15 0 0 0.000422831 0 0 ATP2C2 9914 broad.mit.edu 37 16 84456106 84456106 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr16:84456106C>T uc010chj.3 + 7 824 c.735C>T c.(733-735)atC>atT p.I245I ATP2C2_uc002fhx.3_Silent_p.I245I|ATP2C2_uc002fhy.3_Silent_p.I262I|ATP2C2_uc002fhz.3_Silent_p.I94I NM_014861 NP_055676 O75185 AT2C2_HUMAN Homo sapiens ATPase, Ca++ transporting, type 2C, member 2 (ATP2C2), mRNA. 245 ATP biosynthetic process Golgi membrane|integral to membrane ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1) 33 TCAGCAACATCGTCTTCATGG 0.602000 24 45 0 0 0.00321405 0 0 SNAP47 116841 broad.mit.edu 37 1 227947188 227947188 + Splice_Site SNP T C C TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:227947188T>C uc001hrf.2 + 3 1537 c.1123_splice c.e3+2 p.A375_splice SNAP47_uc001hra.2_Splice_Site_p.A133_splice|SNAP47_uc001hrd.3_Splice_Site_p.A375_splice|SNAP47_uc001hre.3_Splice_Site_p.A133_splice NM_053052 NP_444280 Q5SQN1 SNP47_HUMAN Homo sapiens synaptosomal-associated protein, 47kDa (SNAP47), mRNA. 375 endomembrane system|membrane|perinuclear region of cytoplasm endometrium(1)|large_intestine(5)|liver(2)|lung(6)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 17 GGCATGCAGGTTAGTGACCGA 0.527000 51 83 0 0 0.00361006 0 0 PCDHB12 56124 broad.mit.edu 37 5 140590624 140590624 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr5:140590624G>A uc003liz.3 + 0 2334 c.2145G>A c.(2143-2145)agG>agA p.R715R PCDHB12_uc011dak.2_Silent_p.R378R|PCDHB13_uc003lja.1_5'Flank NM_018932 NP_061755 Q9Y5F1 PCDBC_HUMAN Homo sapiens protocadherin beta 12 (PCDHB12), mRNA. 715 homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1) 83 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GGCTGTGCAGGAGGAGCAGGG 0.672000 106 36 0 0 0.00195071 0 0 WDR62 284403 broad.mit.edu 37 19 36572341 36572341 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:36572341C>T uc002odd.2 + 9 1331 c.1240C>T c.(1240-1242)Cct>Tct p.P414S WDR62_uc002odc.2_Missense_Mutation_p.P414S NM_001083961 NP_001077430 O43379 WDR62_HUMAN Homo sapiens WD repeat domain 62 (WDR62), transcript variant 1, mRNA. 414 cerebral cortex development nucleus cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3) 43 Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.06) GTAGGTGTATCCTGAGTTTGA 0.428000 91 57 0 0 0.00361006 0 0 KIAA1456 57604 broad.mit.edu 37 8 12878918 12878918 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr8:12878918G>A uc010lsq.3 + 4 1222 c.730G>A c.(730-732)Gga>Aga p.G244R KIAA1456_uc011kxw.2_Intron|KIAA1456_uc003wwj.4_Missense_Mutation_p.G157R|KIAA1456_uc010lsr.3_Missense_Mutation_p.G118R NM_020844 NP_001093147 Q9P272 K1456_HUMAN Homo sapiens KIAA1456 (KIAA1456), transcript variant 1, mRNA. 244 methyltransferase activity endometrium(1)|kidney(1)|large_intestine(1)|lung(4) 7 CAGCACATTAGGAAAATCGTT 0.418000 59 17 0 0 0.00074312 0 0 GABRA4 2557 broad.mit.edu 37 4 46930341 46930341 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr4:46930341G>A uc003gxg.3 - 8 2549 c.1566C>T c.(1564-1566)gcC>gcT p.A522A GABRA4_uc021xnz.1_Silent_p.A503A|GABRA4_uc021xoa.1_Silent_p.A452A NM_000809 NP_000800 P48169 GBRA4_HUMAN Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 4 (GABRA4), transcript variant 1, mRNA. 522 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane GABA-A receptor activity|benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) AGAGAATACGGGCATATTTGT 0.413000 42 41 0 0 0.00148497 0 0 TCF4 6925 broad.mit.edu 37 18 52927248 52927248 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr18:52927248G>A uc002lga.3 - 13 1367 c.1307C>T c.(1306-1308)cCa>cTa p.P436L TCF4_uc021ukg.1_Missense_Mutation_p.P174L|TCF4_uc021ukh.1_Missense_Mutation_p.P174L|TCF4_uc002lfw.4_Missense_Mutation_p.P174L|TCF4_uc010xdu.1_Missense_Mutation_p.P204L|TCF4_uc010xdv.1_Missense_Mutation_p.P204L|TCF4_uc021uki.1_Missense_Mutation_p.P263L|TCF4_uc002lfx.2_Missense_Mutation_p.P263L|TCF4_uc010xdw.1_Missense_Mutation_p.P204L|TCF4_uc002lfy.2_Missense_Mutation_p.P292L|TCF4_uc010xdx.1_Missense_Mutation_p.P310L|TCF4_uc021ukj.1_Missense_Mutation_p.P274L|TCF4_uc021ukk.1_Missense_Mutation_p.P274L|TCF4_uc021ukl.1_Missense_Mutation_p.P332L|TCF4_uc002lfz.2_Missense_Mutation_p.P334L|TCF4_uc010dph.1_Missense_Mutation_p.P334L|TCF4_uc010dpi.3_Missense_Mutation_p.P340L|TCF4_uc010xdy.1_Missense_Mutation_p.P310L NM_001243226 NP_001230155 P15884 ITF2_HUMAN Homo sapiens transcription factor 4 (TCF4), transcript variant 3, mRNA. 334 positive regulation of neuron differentiation|protein-DNA complex assembly|transcription initiation from RNA polymerase II promoter transcription factor complex E-box binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|TFIIB-class binding transcription factor activity|TFIIB-class transcription factor binding|protein C-terminus binding|protein heterodimerization activity|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1) 41 Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718) AGTGTGATCTGGAGAATAGAT 0.343000 70 48 0 0 0.00361006 0 0 RYR2 6262 broad.mit.edu 37 1 237972271 237972271 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:237972271G>A uc001hyl.1 + 99 14489 c.14369G>A c.(14368-14370)cGa>cAa p.R4790Q RYR2_uc010pyb.1_Missense_Mutation_p.R223Q NM_001035 NP_001026 Q92736 RYR2_HUMAN Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA. 4790 cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding p.R4788Q(1) NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) AATTTTTTCCGAAAATTCTAC 0.353000 192 74 0 0 0.00361006 0 0 BOD1L1 259282 broad.mit.edu 37 4 13603467 13603467 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr4:13603467C>T uc003gmz.1 - 9 5174 c.5057G>A c.(5056-5058)aGt>aAt p.S1686N BOD1L1_uc010idr.1_Missense_Mutation_p.S1023N NM_148894 NP_683692 Q8NFC6 BOD1L_HUMAN Homo sapiens biorientation of chromosomes in cell division 1-like (BOD1L), mRNA. 1686 DNA binding TGCTCCATCACTTTCAACTTC 0.418000 130 96 0 0 0.00361006 0 0 UGT2A3 79799 broad.mit.edu 37 4 69816923 69816923 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr4:69816923G>A uc003hef.2 - 0 587 c.556C>T c.(556-558)Cca>Tca p.P186S UGT2A3_uc010ihp.1_Non-coding_Transcript NM_024743 NP_079019 Q6UWM9 UD2A3_HUMAN Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide A3 (UGT2A3), mRNA. 186 integral to membrane glucuronosyltransferase activity NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 AGTGGAGCTGGAAGTTTCCCA 0.448000 11 9 0 0 0.000274275 0 0 ZSCAN10 84891 broad.mit.edu 37 16 3141587 3141587 + Silent SNP G T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr16:3141587G>T uc002ctv.1 - 3 664 c.576C>A c.(574-576)acC>acA p.T192T ZSCAN10_uc002cty.1_5'UTR|ZSCAN10_uc002ctw.1_Silent_p.T110T|ZSCAN10_uc002ctx.1_Silent_p.T120T NM_032805 NP_116194 Q96SZ4 ZSC10_HUMAN Homo sapiens zinc finger and SCAN domain containing 10 (ZSCAN10), mRNA. 192 negative regulation of transcription, DNA-dependent|viral reproduction nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|cervix(3)|endometrium(3)|kidney(1)|lung(8)|ovary(2)|prostate(1)|skin(4)|urinary_tract(1) 24 CATCCTCAAAGGTCAGGCACT 0.527000 29 38 5.48756e-27 1.61035e-26 0.00285205 1 0 PCLO 27445 broad.mit.edu 37 7 82545449 82545449 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr7:82545449C>T uc003uhx.2 - 6 12142 c.11853G>A c.(11851-11853)caG>caA p.Q3951Q PCLO_uc003uhv.2_Silent_p.Q3951Q|PCLO_uc010lec.3_Silent_p.Q916Q NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA. 3882 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 GTGAAGGTAACTGATAAGAAG 0.438000 419 91 0 0 0.00361006 0 0 SCNN1A 6337 broad.mit.edu 37 12 6463683 6463683 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr12:6463683C>T uc001qnw.3 - 6 1722 c.1458G>A c.(1456-1458)aaG>aaA p.K486K SCNN1A_uc001qnv.3_Silent_p.K127K|SCNN1A_uc001qnx.3_Silent_p.K427K|SCNN1A_uc010sfb.2_Silent_p.K450K NM_001159576 NP_001029 P37088 SCNNA_HUMAN Homo sapiens sodium channel, nonvoltage-gated 1 alpha (SCNN1A), transcript variant 2, mRNA. 427 excretion|response to stimulus|sensory perception of taste apical plasma membrane WW domain binding central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(2)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 27 Amiloride(DB00594)|Triamterene(DB00384) AGCCACACTCCTTGATCATGC 0.577000 11 24 0 0 0.00278032 0 0 PDZD2 23037 broad.mit.edu 37 5 31799773 31799773 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr5:31799773G>A uc003jhl.3 + 1 806 c.418G>A c.(418-420)Gat>Aat p.D140N PDZD2_uc003jhm.3_Missense_Mutation_p.D140N NM_178140 NP_835260 O15018 PDZD2_HUMAN Homo sapiens PDZ domain containing 2 (PDZD2), mRNA. 140 PDZ 1. cell adhesion cell-cell junction|endoplasmic reticulum|extracellular region|nucleus NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 148 CCGACTGCGGGATGAGATCCT 0.597000 68 44 0 0 0.00361006 0 0 RGPD5 84220 broad.mit.edu 37 2 113181836 113181836 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:113181836C>T uc002ths.2 - 1 313 c.121G>A c.(121-123)Gaa>Aaa p.E41K RGPD5_uc010fkk.2_Missense_Mutation_p.E15K|RGPD5_uc002tht.1_5'Flank|RGPD5_uc010yxm.2_Missense_Mutation_p.E41K NM_005054 NP_001157935 Q99666 RGPD5_HUMAN Homo sapiens RANBP2-like and GRIP domain containing 5 (RGPD5), transcript variant 1, mRNA. 41 intracellular transport cytoplasm binding central_nervous_system(1) 1 AGATCATATTCTTTAGCTTCA 0.244000 64 22 0 0 0.00178596 0 0 SORCS2 57537 broad.mit.edu 37 4 7741963 7741963 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr4:7741963G>A uc003gkb.4 + 26 3452 c.3452G>A c.(3451-3453)cGa>cAa p.R1151Q SORCS2_uc011bwi.2_Missense_Mutation_p.R994Q NM_020777 NP_065828 Q96PQ0 SORC2_HUMAN Homo sapiens sortilin-related VPS10 domain containing receptor 2 (SORCS2), mRNA. 1151 integral to membrane neuropeptide receptor activity autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 42 ATCAACTCCCGAGAGATGCAC 0.617000 6 8 0 0 0.000442599 0 0 KIAA1147 57189 broad.mit.edu 37 7 141385329 141385329 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr7:141385329G>A uc003vwk.3 - 2 476 c.476C>T c.(475-477)cCc>cTc p.P159L NM_001080392 NP_001073861 A4D1U4 LCHN_HUMAN Homo sapiens KIAA1147 (KIAA1147), mRNA. 159 breast(3)|endometrium(4)|kidney(2)|large_intestine(1)|ovary(1)|skin(1) 12 Melanoma(164;0.0171) TGTGTAGGAGGGAGAGAGGAT 0.602000 145 23 0 0 0.000878237 0 0 TRIM72 493829 broad.mit.edu 37 16 31234160 31234160 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr16:31234160C>T uc002ebn.2 + 5 1037 c.753C>T c.(751-753)atC>atT p.I251I NM_001008274 NP_001008275 Q6ZMU5 TRI72_HUMAN Homo sapiens tripartite motif containing 72 (TRIM72), mRNA. 251 exocytosis|muscle organ development|muscle system process|plasma membrane repair|protein homooligomerization cytoplasmic vesicle membrane|sarcolemma phosphatidylserine binding|zinc ion binding breast(1)|endometrium(2)|large_intestine(2)|lung(9)|skin(1) 15 TGCAGAAGATCCTGGCAGAGT 0.612000 30 4 0 0 0.000602214 0 0 CTAGE1 64693 broad.mit.edu 37 18 19995914 19995914 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr18:19995914C>T uc002ktv.1 - 0 1965 c.1861G>A c.(1861-1863)Gat>Aat p.D621N NM_172241 NP_758441 Q96RT6 CTGE2_HUMAN Homo sapiens cutaneous T-cell lymphoma-associated antigen 1 (CTAGE1), transcript variant 1, mRNA. 621 integral to membrane p.D621N(1) cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1) 27 all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135) ATTGACCCATCCATTTTATCC 0.393000 75 68 0 0 0.00361006 0 0 OR5T3 390154 broad.mit.edu 37 11 56020462 56020462 + Missense_Mutation SNP G A A rs141819352 TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr11:56020462G>A uc010rjd.2 + 0 787 c.787G>A c.(787-789)Gga>Aga p.G263R NM_001004747 NP_001004747 Q8NGG3 OR5T3_HUMAN Homo sapiens olfactory receptor, family 5, subfamily T, member 3 (OR5T3), mRNA. 263 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.G263R(2)|p.K262N(1) breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3) 39 Esophageal squamous(21;0.00448) TTCTGCTAAGGGAAGGCAAAA 0.413000 95 82 0 0 0.00361006 0 0 SMARCAL1 50485 broad.mit.edu 37 2 217347558 217347558 + Missense_Mutation SNP C A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:217347558C>A uc002vgc.4 + 17 3053 c.2723C>A c.(2722-2724)cCa>cAa p.P908Q SMARCAL1_uc002vgd.4_Missense_Mutation_p.P908Q|SMARCAL1_uc010fvg.3_Missense_Mutation_p.P886Q NM_014140 NP_054859 Q9NZC9 SMAL1_HUMAN Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1 (SMARCAL1), transcript variant 1, mRNA. 908 DNA metabolic process|chromatin modification|regulation of transcription from RNA polymerase II promoter nucleus ATP binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(15)|ovary(3)|prostate(1)|skin(1) 42 Renal(323;0.0458) Epithelial(149;9.48e-06)|all cancers(144;0.000621)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0111) TCCTTTGACCCAGGAAGTGCT 0.478000 Schimke Immuno-Osseous Dysplasia 102 6 5.18039e-06 1.5007e-05 0.00307968 1 0 EIF3D 8664 broad.mit.edu 37 22 36912528 36912528 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr22:36912528G>A uc003apr.3 - 11 1368 c.1203C>T c.(1201-1203)tcC>tcT p.S401S EIF3D_uc011amr.2_Silent_p.S228S|EIF3D_uc011amt.2_Silent_p.S352S|EIF3D_uc011ams.2_Silent_p.S304S NM_003753 NP_003744 O15371 EIF3D_HUMAN Homo sapiens eukaryotic translation initiation factor 3, subunit D (EIF3D), mRNA. 401 cytosol|eukaryotic translation initiation factor 3 complex protein binding|translation initiation factor activity cervix(1)|endometrium(2)|large_intestine(6)|lung(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1) 15 GGCTCACCCTGGAATCCCACT 0.493000 107 69 0 0 0.00361006 0 0 BRPF3 27154 broad.mit.edu 37 6 36193062 36193062 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr6:36193062C>T uc003olv.4 + 10 3424 c.3200C>T c.(3199-3201)cCc>cTc p.P1067L BRPF3_uc010jwb.3_Missense_Mutation_p.P797L|BRPF3_uc011dtj.2_Non-coding_Transcript|BRPF3_uc010jwc.3_Intron|BRPF3_uc011dtk.2_Missense_Mutation_p.P733L|BRPF3_uc010jwd.3_5'UTR NM_015695 NP_056510 Q9ULD4 BRPF3_HUMAN Homo sapiens bromodomain and PHD finger containing, 3 (BRPF3), mRNA. 1067 histone H3 acetylation|platelet activation|platelet degranulation MOZ/MORF histone acetyltransferase complex|cytosol|extracellular region protein binding|zinc ion binding breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2) 40 CTCCTGCTGCCCTTTGAAGAC 0.652000 25 9 0 0 0.000978159 0 0 ZNF330 27309 broad.mit.edu 37 4 142150761 142150761 + Missense_Mutation SNP C A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr4:142150761C>A uc003iiq.4 + 5 548 c.328C>A c.(328-330)Cat>Aat p.H110N ZNF330_uc011chl.2_Missense_Mutation_p.H50N NM_014487 NP_055302 Q9Y3S2 ZN330_HUMAN Homo sapiens zinc finger protein 330 (ZNF330), mRNA. 110 chromosome, centromeric region|midbody|nucleolus protein binding|zinc ion binding kidney(1)|large_intestine(4)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 14 all_hematologic(180;0.162) TTGGGTTTGCCATGGTAGGAA 0.463000 57 52 9.72345e-25 2.85215e-24 0.00361006 1 0 ELN 2006 broad.mit.edu 37 7 73477977 73477977 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr7:73477977G>A uc003tzw.3 + 28 2054 c.1963G>A c.(1963-1965)Gga>Aga p.G655R ELN_uc003tzn.3_Missense_Mutation_p.G649R|ELN_uc003tzy.3_Missense_Mutation_p.G625R|ELN_uc003tzz.3_Missense_Mutation_p.G568R|ELN_uc003tzo.3_Missense_Mutation_p.G601R|ELN_uc003tzp.3_Missense_Mutation_p.G560R|ELN_uc003tzq.3_Missense_Mutation_p.G513R|ELN_uc003tzr.3_Non-coding_Transcript|ELN_uc003tzs.3_Missense_Mutation_p.G630R|ELN_uc003tzt.3_Missense_Mutation_p.G654R|ELN_uc003tzu.3_Missense_Mutation_p.G635R|ELN_uc003tzv.3_Missense_Mutation_p.G620R|ELN_uc011kfe.2_Non-coding_Transcript|ELN_uc003tzx.3_Missense_Mutation_p.G639R|ELN_uc011kff.2_Missense_Mutation_p.G649R NM_000501 NP_001075224 P15502 ELN_HUMAN Homo sapiens elastin (ELN), transcript variant 1, mRNA. 711 Ala-rich. blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange proteinaceous extracellular matrix extracellular matrix constituent conferring elasticity|protein binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1) 32 Lung NSC(55;0.159) Rofecoxib(DB00533) TGGGCTCGGAGGACTCGGAGT 0.597000 T PAX5 B-ALL """Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome""" 130 57 0 0 0.00361006 0 0 ABCC9 10060 broad.mit.edu 37 12 21965081 21965081 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr12:21965081G>A uc001rfh.3 - 33 4133 c.4113C>T c.(4111-4113)gtC>gtT p.V1371V ABCC9_uc001rfi.1_Silent_p.V1371V NM_020297 NP_064693 O60706 ABCC9_HUMAN Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 9 (ABCC9), transcript variant SUR2B, mRNA. 1371 ABC transporter 2. defense response to virus|potassium ion import ATP-sensitive potassium channel complex ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5) 118 Adenosine triphosphate(DB00171)|Glibenclamide(DB01016) TCCCATCAATGACAATTTTTC 0.323000 41 47 0 0 0.00361006 0 0 ADAMDEC1 27299 broad.mit.edu 37 8 24256963 24256963 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr8:24256963C>T uc003xdz.2 + 9 1207 c.987C>T c.(985-987)tcC>tcT p.S329S ADAMDEC1_uc010lub.2_Silent_p.S250S|ADAMDEC1_uc011lab.1_Silent_p.S250S NM_014479 NP_001138744 O15204 ADEC1_HUMAN Homo sapiens ADAM-like, decysin 1 (ADAMDEC1), transcript variant 1, mRNA. 329 Peptidase M12B. integrin-mediated signaling pathway|negative regulation of cell adhesion|proteolysis extracellular region|integral to membrane integrin binding|metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|large_intestine(4)|skin(2)|stomach(1) 9 Prostate(55;0.0181) Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168) CCTTGTGTTCCCCATCTTCGG 0.418000 59 20 0 0 0.00229938 0 0 ABCC10 89845 broad.mit.edu 37 6 43401062 43401062 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr6:43401062C>T uc003ouy.1 + 2 1559 c.1344C>T c.(1342-1344)aaC>aaT p.N448N ABCC10_uc003ouz.1_Silent_p.N405N|ABCC10_uc010jyo.1_5'Flank NM_001198934 NP_001185863 Q5T3U5 MRP7_HUMAN Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 10 (ABCC10), transcript variant MRP7, mRNA. 448 ABC transmembrane type-1 1. integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 56 all_lung(25;0.00536) Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804) TGGCCAGCAACCAGGAAATGC 0.597000 18 8 0 0 0.000274275 0 0 GGT1 2678 broad.mit.edu 37 22 25019187 25019187 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr22:25019187G>A uc003aan.1 + 9 1334 c.847G>A c.(847-849)Ggg>Agg p.G283R GGT1_uc003aas.1_Missense_Mutation_p.G283R|GGT1_uc003aat.1_Missense_Mutation_p.G283R|GGT1_uc003aau.2_Missense_Mutation_p.G283R|GGT1_uc003aav.2_Missense_Mutation_p.G283R|GGT1_uc003aaw.2_Missense_Mutation_p.G283R|GGT1_uc003aax.2_Missense_Mutation_p.G283R NM_013430 NP_038347 P19440 GGT1_HUMAN Homo sapiens gamma-glutamyltransferase 1 (GGT1), transcript variant 3, mRNA. 283 glutathione biosynthetic process integral to membrane acyltransferase activity|gamma-glutamyltransferase activity|protein binding breast(1)|endometrium(2)|kidney(14)|large_intestine(2)|lung(6)|pancreas(1)|prostate(6)|skin(7)|upper_aerodigestive_tract(1) 40 Glutathione(DB00143) GCCGCTCAGCGGGCCCGTGCT 0.627000 4 10 0 0 0.00136819 0 0 TSIX 9383 broad.mit.edu 37 X 73046495 73046495 + RNA SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chrX:73046495C>T uc004ebn.2 + 0 c.34456C>T XIST_uc004ebm.1_Non-coding_Transcript Homo sapiens TSIX transcript, XIST antisense RNA (non-protein coding) (TSIX), antisense RNA. CTTGGGATTTCCCCAGGTCTT 0.443000 6 53 0 0 0.00361006 0 0 F8 2157 broad.mit.edu 37 X 154133156 154133156 + Missense_Mutation SNP T C C TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chrX:154133156T>C uc004fmt.3 - 15 5687 c.5516A>G c.(5515-5517)cAa>cGa p.Q1839R F8_uc010nvi.1_5'UTR NM_000132 NP_000123 P00451 FA8_HUMAN Homo sapiens coagulation factor VIII, procoagulant component (F8), transcript variant 1, mRNA. 1839 F5/8 type A 3.|Plastocyanin-like 5. acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation extracellular space|plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity|protein binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2) 120 all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055) CATATGATGTTGCACTTTCCA 0.413000 5 36 0 0 0.000953801 0 0 WISP1 8840 broad.mit.edu 37 8 134233063 134233063 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr8:134233063C>T uc003yub.3 + 2 695 c.589C>T c.(589-591)Ccc>Tcc p.P197S WISP1_uc003yuc.3_Intron|WISP1_uc010meb.3_Intron|WISP1_uc010mec.3_Intron|WISP1_uc010med.3_Intron|WISP1_uc003yud.3_Intron NM_003882 NP_003873 O95388 WISP1_HUMAN Homo sapiens WNT1 inducible signaling pathway protein 1 (WISP1), transcript variant 1, mRNA. 197 Wnt receptor signaling pathway|cell adhesion|cell-cell signaling|regulation of cell growth extracellular region|soluble fraction insulin-like growth factor binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 21 all_epithelial(106;5.39e-23)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0107) CAAGACCGCACCCCGTGACAC 0.657000 33 12 0 0 0.000978159 0 0 MUC16 94025 broad.mit.edu 37 19 9076487 9076487 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:9076487C>T uc002mkp.3 - 2 11163 c.10959G>A c.(10957-10959)aaG>aaA p.K3653K NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 3654 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 TGGTCTCTGTCTTTACAGCTG 0.473000 41 17 0 0 0.000422831 0 0 PARP12 64761 broad.mit.edu 37 7 139724499 139724499 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr7:139724499G>A uc003vvl.1 - 11 2841 c.1967C>T c.(1966-1968)tCc>tTc p.S656F PARP12_uc010lnf.1_Non-coding_Transcript NM_022750 NP_073587 Q9H0J9 PAR12_HUMAN Homo sapiens poly (ADP-ribose) polymerase family, member 12 (PARP12), mRNA. 656 PARP catalytic. nucleus NAD+ ADP-ribosyltransferase activity|nucleic acid binding|zinc ion binding endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1) 19 Melanoma(164;0.0142) GGAGGGGTCGGACACACTGTT 0.577000 110 14 0 0 0.000422831 0 0 SIGLEC7 27036 broad.mit.edu 37 19 51650538 51650538 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:51650538G>A uc002pvv.1 + 5 1254 c.1185G>A c.(1183-1185)atG>atA p.M395I SIGLEC7_uc002pvw.1_Missense_Mutation_p.M302I|SIGLEC7_uc010eoq.1_Non-coding_Transcript|SIGLEC7_uc010eor.1_Intron NM_014385 NP_055200 Q9Y286 SIGL7_HUMAN Homo sapiens sialic acid binding Ig-like lectin 7 (SIGLEC7), transcript variant 1, mRNA. 395 cell adhesion integral to plasma membrane receptor activity|sugar binding p.G394G(1) autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(11)|skin(2)|stomach(1) 29 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.000836)|OV - Ovarian serous cystadenocarcinoma(262;0.00297) ACATAGGCATGAAGGATGCAA 0.572000 27 24 0 0 0.000878237 0 0 AIM2 9447 broad.mit.edu 37 1 159043271 159043271 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:159043271C>T uc001ftj.1 - 1 264 c.19G>A c.(19-21)Gag>Aag p.E7K NM_004833 NP_004824 O14862 AIM2_HUMAN Homo sapiens absent in melanoma 2 (AIM2), mRNA. 7 DAPIN. cellular response to drug|immune response|interleukin-1 beta secretion mitochondrion|nucleus breast(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(1) 16 all_hematologic(112;0.0429) AAGAGTATCTCCTTGTATTTA 0.373000 41 73 0 0 0.00361006 0 0 KLHDC4 54758 broad.mit.edu 37 16 87788820 87788820 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr16:87788820G>A uc002fki.3 - 3 451 c.349C>T c.(349-351)Ccg>Tcg p.P117S KLHDC4_uc002fkj.3_Missense_Mutation_p.P117S|KLHDC4_uc002fkl.3_Missense_Mutation_p.P60S|KLHDC4_uc010chu.1_5'UTR NM_017566 NP_060036 Q8TBB5 KLDC4_HUMAN Homo sapiens kelch domain containing 4 (KLHDC4), transcript variant 1, mRNA. 117 p.P117L(1) breast(2)|endometrium(3)|lung(10)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(2) 21 BRCA - Breast invasive adenocarcinoma(80;0.0283) CAGCGCCTCGGAGGTGGACTG 0.507000 44 14 0 0 0.000566183 0 0 SPN 6693 broad.mit.edu 37 16 29675345 29675345 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr16:29675345C>T uc021tgd.1 + 0 296 c.296C>T c.(295-297)tCc>tTc p.S99F BOLA2_uc010bzb.1_Intron|SPN_uc002dtm.3_Missense_Mutation_p.S99F|SPN_uc002dtn.3_Missense_Mutation_p.S99F NM_003123 NP_003114 P16150 LEUK_HUMAN Homo sapiens sialophorin (SPN), transcript variant 2, mRNA. 99 blood coagulation|cellular defense response|chemotaxis|defense response to bacterium|establishment or maintenance of cell polarity|immune response|leukocyte migration|negative regulation of cell adhesion|positive regulation of tumor necrosis factor biosynthetic process extracellular space|integral to plasma membrane bacterial cell surface binding|transmembrane receptor activity central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)|stomach(1) 15 CAGGAAGTTTCCATCAAGATG 0.522000 25 62 0 0 0.00361006 0 0 ATP8A1 10396 broad.mit.edu 37 4 42467036 42467036 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr4:42467036G>A uc003gwr.2 - 25 2614 c.2382C>T c.(2380-2382)gtC>gtT p.V794V ATP8A1_uc003gwq.2_Silent_p.V20V|ATP8A1_uc003gws.2_Silent_p.V779V NM_006095 NP_006086 Q9Y2Q0 AT8A1_HUMAN Homo sapiens ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1 (ATP8A1), transcript variant 1, mRNA. 794 ATP biosynthetic process chromaffin granule membrane|integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|aminophospholipid transporter activity|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3) 51 Phosphatidylserine(DB00144) CAAGCGTTACGACTTTGACTT 0.413000 31 17 0 0 0.00121646 0 0 PKM2 5315 broad.mit.edu 37 15 72511451 72511451 + Splice_Site SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr15:72511451C>T uc002aty.2 - 2 272 c.-12_splice c.e2-1 PKM2_uc010bit.1_Splice_Site_p.M1_splice|PKM2_uc010uki.2_Splice_Site_p.R70_splice|PKM2_uc002atx.2_Splice_Site|PKM2_uc002atw.2_Splice_Site|PKM2_uc010ukj.2_Splice_Site_p.G12_splice|PKM2_uc010ukk.2_Splice_Site|PKM2_uc002atv.2_Splice_Site_p.G31_splice|PKM2_uc010biu.1_Splice_Site_p.G17_splice NM_002654 NP_002645 P14618 KPYM_HUMAN Homo sapiens pyruvate kinase, muscle (PKM2), transcript variant 1, mRNA. glycolysis|programmed cell death cytosol|nucleus|plasma membrane ATP binding|magnesium ion binding|potassium ion binding|protein binding|pyruvate kinase activity breast(1)|endometrium(1)|large_intestine(4)|lung(6)|prostate(1) 13 Pyruvic acid(DB00119) CTGCTGAGGTCCTGGGTCGAG 0.498000 90 6 0 0 0.00116845 0 0 FN1 2335 broad.mit.edu 37 2 216251457 216251457 + Missense_Mutation SNP T A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:216251457T>A uc002vfa.3 - 27 4833 c.4567A>T c.(4567-4569)Aat>Tat p.N1523Y FN1_uc002vfc.3_Missense_Mutation_p.N1432Y|FN1_uc002vfe.3_Missense_Mutation_p.N1432Y|FN1_uc002vff.3_Missense_Mutation_p.N1432Y|FN1_uc002vfg.3_Missense_Mutation_p.N1432Y|FN1_uc002vfh.3_Missense_Mutation_p.N1432Y|FN1_uc002vfi.3_Missense_Mutation_p.N1523Y|FN1_uc002vfj.3_Missense_Mutation_p.N1523Y|FN1_uc002vfb.3_Missense_Mutation_p.N1432Y|FN1_uc002vez.3_5'UTR|FN1_uc010zjp.2_Missense_Mutation_p.N150Y NM_212482 NP_997647 P02751 FINC_HUMAN Homo sapiens fibronectin 1 (FN1), transcript variant 1, mRNA. 1522 Cell-attachment.|Fibronectin type-III 10. acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix collagen binding|extracellular matrix structural constituent|heparin binding FN1/ALK(2) NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2) 109 Renal(323;0.127) Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) TCTCTGCCATTAAGAGCAACG 0.488000 36 16 0 0 0.000566183 0 0 IAH1 285148 broad.mit.edu 37 2 9621462 9621462 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:9621462C>T uc002qzr.3 + 3 357 c.331C>T c.(331-333)Cta>Tta p.L111L IAH1_uc002qzs.3_5'UTR|IAH1_uc002qzt.3_5'UTR|IAH1_uc010yiz.2_Non-coding_Transcript NM_001039613 NP_001034702 Q2TAA2 IAH1_HUMAN Homo sapiens isoamyl acetate-hydrolyzing esterase 1 homolog (S. cerevisiae) (IAH1), mRNA. 111 lipid catabolic process hydrolase activity, acting on ester bonds breast(1)|large_intestine(2)|lung(3)|pancreas(1)|upper_aerodigestive_tract(1) 8 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) CGCTGCGAACCTAAAGAGCAT 0.488000 20 30 0 0 0.00178596 0 0 TJP3 27134 broad.mit.edu 37 19 3733818 3733819 + Missense_Mutation DNP GG AA AA TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:3733818_3733819GG>AA uc010xhv.2 + 5 842_843 c.842_843GG>AA c.(841-843)ggg>gAA p.G281E TJP3_uc010xhs.2_Missense_Mutation_p.G262E|TJP3_uc010xht.2_Missense_Mutation_p.G226E|TJP3_uc010xhu.2_Missense_Mutation_p.G271E|TJP3_uc010xhw.2_Missense_Mutation_p.G281E NM_014428 NP_055243 O95049 ZO3_HUMAN Homo sapiens tight junction protein 3 (zona occludens 3) (TJP3), mRNA. 262 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) AAGTCAGAAGGGAAGCTAAGCC 0.564000 81 44 0 0 6.4e-05 0 0 HLA-DPA1 3113 broad.mit.edu 37 6 33036820 33036820 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr6:33036820C>T uc003ocs.2 - 2 711 c.604G>A c.(604-606)Gac>Aac p.D202N HLA-DPA1_uc021ywg.1_Missense_Mutation_p.D202N|HLA-DPA1_uc021ywh.1_Missense_Mutation_p.D202N|HLA-DPA1_uc010juk.3_Missense_Mutation_p.D202N NM_033554 NP_291032 P20036 DPA1_HUMAN Homo sapiens major histocompatibility complex, class II, DP alpha 1 (HLA-DPA1), transcript variant 1, mRNA. 202 Alpha-2.|Ig-like C1-type. T cell costimulation|T cell receptor signaling pathway|antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway Golgi apparatus|MHC class II protein complex|endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane|lysosomal membrane MHC class II receptor activity kidney(5)|large_intestine(1)|lung(6)|prostate(1)|skin(2) 15 AGCGGCTGGTCCAAGCCCCAG 0.532000 103 86 0 0 0.00361006 0 0 CRTAC1 55118 broad.mit.edu 37 10 99771025 99771025 + Nonsense_Mutation SNP C A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr10:99771025C>A uc001kou.2 - 1 450 c.94G>T c.(94-96)Gaa>Taa p.E32* CRTAC1_uc001kov.3_Nonsense_Mutation_p.E32* NM_018058 NP_060528 Q9NQ79 CRAC1_HUMAN Homo sapiens cartilage acidic protein 1 (CRTAC1), transcript variant 1, mRNA. 32 proteinaceous extracellular matrix calcium ion binding autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(6)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1) 35 Colorectal(252;0.24) Epithelial(162;2.18e-10)|all cancers(201;3.27e-09) AACATGGGTTCAGCCCGCTGG 0.512000 41 37 6.70999e-13 1.95636e-12 0.000814825 1 0 CSF1R 1436 broad.mit.edu 37 5 149459714 149459714 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr5:149459714G>A uc003lrl.3 - 2 688 c.493C>T c.(493-495)Cac>Tac p.H165Y CSF1R_uc011dcd.2_Missense_Mutation_p.H17Y|CSF1R_uc010jhc.3_Non-coding_Transcript|CSF1R_uc003lrm.3_Missense_Mutation_p.H165Y|CSF1R_uc011dce.1_Missense_Mutation_p.H165Y|CSF1R_uc011dcf.2_Missense_Mutation_p.H165Y NM_005211 NP_005202 P07333 CSF1R_HUMAN Homo sapiens colony stimulating factor 1 receptor (CSF1R), mRNA. 165 Ig-like C2-type 2. cell proliferation|multicellular organismal development|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane|receptor complex ATP binding|cytokine binding|macrophage colony-stimulating factor receptor activity|protein homodimerization activity NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3) 93 KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147) Imatinib(DB00619)|Sunitinib(DB01268) TTGGCCCTGTGGATGGTGAAG 0.607000 32 15 0 0 0.00316338 0 0 OR4K13 390433 broad.mit.edu 37 14 20502436 20502436 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr14:20502436G>A uc010tkz.2 - 0 482 c.482C>T c.(481-483)gCt>gTt p.A161V NM_001004714 NP_001004714 Q8NH42 OR4KD_HUMAN Homo sapiens olfactory receptor, family 4, subfamily K, member 13 (OR4K13), mRNA. 161 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4) 24 all_cancers(95;0.00108) Epithelial(56;4.65e-07)|all cancers(55;2.9e-06) GBM - Glioblastoma multiforme(265;0.0064) CAACATGAAAGCCATTTGACT 0.468000 108 91 0 0 0.00361006 0 0 PLCXD1 55344 broad.mit.edu 37 X 205506 205506 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chrX:205506C>T uc004cpc.3 + 2 546 c.234C>T c.(232-234)cgC>cgT p.R78R PLCXD1_uc011mgx.2_Non-coding_Transcript NM_018390 NP_060860 Q9NUJ7 PLCX1_HUMAN Homo sapiens phosphatidylinositol-specific phospholipase C, X domain containing 1 (PLCXD1), transcript variant 1, mRNA. 78 PI-PLC X-box. intracellular signal transduction|lipid metabolic process phospholipase C activity p.T77M(1) endometrium(3)|large_intestine(1)|lung(7) 11 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) GCATCACGCGCCCTGTCGTGC 0.632000 8 32 0 0 0.00283554 0 0 NLRP7 199713 broad.mit.edu 37 19 55451413 55451413 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:55451413C>T uc002qih.4 - 3 850 c.774G>A c.(772-774)ctG>ctA p.L258L NLRP7_uc010esk.3_Silent_p.L258L|NLRP7_uc002qig.4_Silent_p.L258L|NLRP7_uc002qii.4_Silent_p.L258L|NLRP7_uc010esl.3_Silent_p.L286L NM_206828 NP_996611 Q8WX94 NALP7_HUMAN Homo sapiens NLR family, pyrin domain containing 7 (NLRP7), transcript variant 2, mRNA. 258 NACHT. ATP binding autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 73 GBM - Glioblastoma multiforme(193;0.0325) GTGGGACTTTCAGCTCATCAA 0.557000 143 25 0 0 0.00395357 0 0 HCCS 3052 broad.mit.edu 37 X 11139886 11139886 + Missense_Mutation SNP G A A rs145499860 TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chrX:11139886G>A uc004cul.2 + 6 943 c.763G>A c.(763-765)Gta>Ata p.V255I HCCS_uc004cuk.3_Missense_Mutation_p.V255I|HCCS_uc004cuj.3_Missense_Mutation_p.V255I NM_001171991 NP_005324 P53701 CCHL_HUMAN Homo sapiens holocytochrome c synthase (HCCS), transcript variant 3, mRNA. 255 organ morphogenesis|oxidation-reduction process mitochondrial inner membrane holocytochrome-c synthase activity|metal ion binding kidney(1)|large_intestine(3)|lung(3) 7 ACTTTCGGCAGTATGGGACAG 0.413000 1 22 0 0 0.00278032 0 0 LRRC18 474354 broad.mit.edu 37 10 50121768 50121768 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr10:50121768C>T uc001jhd.3 - 0 513 c.433G>A c.(433-435)Gag>Aag p.E145K WDFY4_uc001jha.4_Intron|LRRC18_uc001jhe.1_Missense_Mutation_p.E145K NM_001006939 NP_001006940 Q8N456 LRC18_HUMAN Homo sapiens leucine rich repeat containing 18 (LRRC18), mRNA. 145 cytoplasm NS(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1) 18 TCGTGGAGCTCCTTCAGGGCC 0.582000 22 7 0 0 0.00198382 0 0 GGPS1 9453 broad.mit.edu 37 1 235505825 235505825 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:235505825C>T uc001hwv.3 + 3 725 c.641C>T c.(640-642)tCa>tTa p.S214L GGPS1_uc001hwx.3_Missense_Mutation_p.S160L|GGPS1_uc001hww.3_Missense_Mutation_p.S214L NM_001037277 NP_001032354 O95749 GGPPS_HUMAN Homo sapiens geranylgeranyl diphosphate synthase 1 (GGPS1), transcript variant 2, mRNA. 214 cholesterol biosynthetic process|isoprenoid biosynthetic process cytosol|soluble fraction dimethylallyltranstransferase activity|farnesyltranstransferase activity|geranyltranstransferase activity|metal ion binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1) 8 Ovarian(103;0.0634)|Breast(184;0.23) all_cancers(173;0.00192)|Prostate(94;0.0294)|all_epithelial(177;0.155)|Lung SC(1967;0.238) OV - Ovarian serous cystadenocarcinoma(106;1.39e-05) GGAAAGTTCTCATTTCCTACT 0.368000 51 17 0 0 0.00152264 0 0 OPLAH 26873 broad.mit.edu 37 8 145111949 145111949 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr8:145111949G>A uc003zar.3 - 11 1690 c.1608C>T c.(1606-1608)tcC>tcT p.S536S OPLAH_uc003zas.1_5'Flank NM_017570 NP_060040 O14841 OPLA_HUMAN Homo sapiens 5-oxoprolinase (ATP-hydrolysing) (OPLAH), mRNA. 536 5-oxoprolinase (ATP-hydrolyzing) activity|ATP binding breast(1)|central_nervous_system(1)|endometrium(1)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 20 all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) L-Glutamic Acid(DB00142) CGTAGAGCAGGGAGCAGGGTT 0.672000 13 4 0 0 0.000602214 0 0 OR10C1 442194 broad.mit.edu 37 6 29407875 29407875 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr6:29407875C>T uc011dlp.2 + 0 160 c.83C>T c.(82-84)tCt>tTt p.S28F OR11A1_uc010jrh.1_Intron NM_013941 NP_039229 Q96KK4 O10C1_HUMAN Homo sapiens olfactory receptor, family 10, subfamily C, member 1 (OR10C1), mRNA. 28 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(2)|kidney(1)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 27 TTGCTCTTCTCTGTCTTTCTC 0.537000 64 46 0 0 0.00321405 0 0 PIWIL2 55124 broad.mit.edu 37 8 22147395 22147395 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr8:22147395G>A uc003xbn.2 + 8 1170 c.1022G>A c.(1021-1023)aGa>aAa p.R341K PIWIL2_uc011kzf.1_Missense_Mutation_p.R341K|PIWIL2_uc010ltv.2_Missense_Mutation_p.R341K NM_018068 NP_060538 Q8TC59 PIWL2_HUMAN Homo sapiens piwi-like 2 (Drosophila) (PIWIL2), transcript variant 2, mRNA. 341 DNA methylation involved in gamete generation|RNA 5'-end processing|gene silencing by RNA|germ-line stem cell maintenance|multicellular organismal development|oogenesis|piRNA metabolic process|positive regulation of translation|spermatogenesis chromatoid body|pi-body piRNA binding NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(14)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(1) 46 Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707) CTTGTGGGGAGAAACTTTTAT 0.338000 16 16 0 0 0.000422831 0 0 ZNF711 7552 broad.mit.edu 37 X 84526436 84526436 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chrX:84526436C>T uc004eeq.3 + 9 2912 c.2026C>T c.(2026-2028)Cgt>Tgt p.R676C ZNF711_uc004eep.3_Missense_Mutation_p.R630C|ZNF711_uc004eeo.3_Missense_Mutation_p.R630C|ZNF711_uc011mqy.1_Missense_Mutation_p.R229C NM_021998 NP_068838 Q9Y462 ZN711_HUMAN Homo sapiens zinc finger protein 711 (ZNF711), mRNA. 630 positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding|sequence-specific DNA binding|zinc ion binding p.H675Y(1) breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(3)|skin(4) 28 AGGTTTTCATCGTCCTTCTGA 0.403000 0 11 0 0 0.000978159 0 0 IL2RB 3560 broad.mit.edu 37 22 37532325 37532325 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr22:37532325C>T uc003aqv.1 - 6 777 c.646G>A c.(646-648)Gag>Aag p.E216K NM_000878 NP_000869 P14784 IL2RB_HUMAN Homo sapiens interleukin 2 receptor, beta (IL2RB), mRNA. 216 Fibronectin type-III. interspecies interaction between organisms|positive regulation of survival gene product expression|protein complex assembly external side of plasma membrane|integral to plasma membrane interleukin-2 receptor activity breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(5) 23 Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004) GTCGTGAACTCGCCTTGCAGA 0.627000 14 15 0 0 0.00244969 0 0 LRP6 4040 broad.mit.edu 37 12 12279653 12279653 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr12:12279653G>A uc001rah.4 - 19 4426 c.4284C>T c.(4282-4284)caC>caT p.H1428H BCL2L14_uc001raf.1_Intron|LRP6_uc010shl.1_Silent_p.H1383H NM_002336 NP_002327 O75581 LRP6_HUMAN Homo sapiens low density lipoprotein receptor-related protein 6 (LRP6), mRNA. 1428 Wnt receptor signaling pathway involved in dorsal/ventral axis specification|cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane Wnt-protein binding|coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1) 85 Prostate(47;0.0865) AAGAACTTGGGTGTGGCACAT 0.463000 113 176 0 0 0.00361006 0 0 ACSS3 79611 broad.mit.edu 37 12 81472131 81472131 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr12:81472131G>A uc001szl.1 + 0 323 c.232G>A c.(232-234)Ggc>Agc p.G78S ACSS3_uc001szm.1_Missense_Mutation_p.G78S NM_024560 NP_078836 Q9H6R3 ACSS3_HUMAN Homo sapiens acyl-CoA synthetase short-chain family member 3 (ACSS3), mRNA. 78 mitochondrion ATP binding|acetate-CoA ligase activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2) 51 GAGGTTCTGGGGCAAAGCTGC 0.627000 27 13 0 0 0.00185496 0 0 FCGBP 8857 broad.mit.edu 37 19 40392521 40392521 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:40392521G>A uc002omp.4 - 15 7991 c.7983C>T c.(7981-7983)ttC>ttT p.F2661F NM_003890 NP_003881 Q9Y6R7 FCGBP_HUMAN Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA. 2661 VWFD 6. extracellular region protein binding NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3) 165 all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06) Epithelial(26;6.25e-23)|all cancers(26;1.13e-20) GGAGCCCACAGAACTCCTCCT 0.632000 20 5 0 0 0.00116845 0 0 COL4A2 1284 broad.mit.edu 37 13 111114659 111114659 + Silent SNP C A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr13:111114659C>A uc001vqx.3 + 23 1993 c.1704C>A c.(1702-1704)ccC>ccA p.P568P NM_001846 NP_001837 P08572 CO4A2_HUMAN Homo sapiens collagen, type IV, alpha 2 (COL4A2), mRNA. 568 Triple-helical region. angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis collagen type IV extracellular matrix structural constituent|protein binding NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922) Breast(118;0.212) BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151) CAGGTGTGCCCGGGATGAAAG 0.667000 75 5 0.000602214 0.00173785 0.000602214 1 0 RCOR3 55758 broad.mit.edu 37 1 211449676 211449676 + Silent SNP G T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:211449676G>T uc010psw.2 + 4 627 c.432G>T c.(430-432)ccG>ccT p.P144P RCOR3_uc010psv.1_Non-coding_Transcript|RCOR3_uc001hie.3_Silent_p.P144P|RCOR3_uc001hif.3_Silent_p.P144P|RCOR3_uc001hig.3_Silent_p.P86P NM_001136223 NP_060724 Q9P2K3 RCOR3_HUMAN Homo sapiens REST corepressor 3 (RCOR3), transcript variant 1, mRNA. 86 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 21 OV - Ovarian serous cystadenocarcinoma(81;0.00961)|all cancers(67;0.0999)|Epithelial(68;0.171) CTCCCTTTCCGGATGAGTGGA 0.398000 139 6 0.00307968 0.00884575 0.00307968 1 0 MYH3 4621 broad.mit.edu 37 17 10551946 10551946 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr17:10551946G>A uc002gmq.2 - 7 751 c.663C>T c.(661-663)atC>atT p.I221I NM_002470 NP_002461 P11055 MYH3_HUMAN Homo sapiens myosin, heavy chain 3, skeletal muscle, embryonic (MYH3), mRNA. 221 Myosin head-like. muscle filament sliding|muscle organ development cytosol|myofibril|myosin filament ATP binding|actin binding|calmodulin binding|microfilament motor activity p.Q220E(1) breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 83 TGGCACTGATGATTTGATCTT 0.463000 6 100 0 0 0.00361006 0 0 ANO4 121601 broad.mit.edu 37 12 101413856 101413856 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr12:101413856G>A uc010svm.1 + 8 1351 c.779G>A c.(778-780)aGa>aAa p.R260K ANO4_uc010svl.1_Non-coding_Transcript|ANO4_uc001thw.2_Missense_Mutation_p.R225K|ANO4_uc001thx.2_Missense_Mutation_p.R260K NM_178826 NP_849148 Q32M45 ANO4_HUMAN Homo sapiens anoctamin 4 (ANO4), mRNA. 260 chloride channel complex chloride channel activity NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1) 78 AATGCCACAAGAAGTAGAATC 0.308000 HNSCC(74;0.22) 42 49 0 0 0.00361006 0 0 SI 6476 broad.mit.edu 37 3 164716332 164716332 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr3:164716332G>A uc003fei.3 - 37 4599 c.4536C>T c.(4534-4536)atC>atT p.I1512I NM_001041 NP_001032 P14410 SUIS_HUMAN Homo sapiens sucrase-isomaltase (alpha-glucosidase) (SI), mRNA. 1512 Sucrase. carbohydrate metabolic process|polysaccharide digestion Golgi apparatus|apical plasma membrane|brush border|integral to membrane carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1) 218 Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199) Acarbose(DB00284) ACTTACCAATGATTGATTTGT 0.393000 HNSCC(35;0.089) 45 38 0 0 0.00128727 0 0 PRAMEF2 65122 broad.mit.edu 37 1 12921509 12921509 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:12921509C>T uc001aum.1 + 3 1387 c.1300C>T c.(1300-1302)Cgg>Tgg p.R434W NM_023014 NP_075390 O60811 PRAM2_HUMAN Homo sapiens PRAME family member 2 (PRAMEF2), mRNA. 434 p.R434L(1) breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4) 42 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) CACCCCACTTCGGGCTGAGCT 0.557000 18 86 0 0 0.00361006 0 0 CNTN5 53942 broad.mit.edu 37 11 100141950 100141950 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr11:100141950G>A uc001pga.3 + 17 2795 c.2291G>A c.(2290-2292)cGa>cAa p.R764Q CNTN5_uc001pfz.3_Missense_Mutation_p.R764Q|CNTN5_uc021qpb.1_Missense_Mutation_p.R764Q|CNTN5_uc021qpc.1_Missense_Mutation_p.R690Q|CNTN5_uc010ruk.2_Missense_Mutation_p.R35Q NM_014361 NP_055176 O94779 CNTN5_HUMAN Homo sapiens contactin 5 (CNTN5), transcript variant 1, mRNA. 764 Fibronectin type-III 1. cell adhesion anchored to membrane|plasma membrane protein binding p.R764*(1) NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 81 all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219) BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196) ACCCCATCTCGAATGATCCGC 0.448000 3 21 0 0 0.00229938 0 0 STK36 27148 broad.mit.edu 37 2 219561263 219561263 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:219561263C>T uc002viu.3 + 21 2804 c.2525C>T c.(2524-2526)cCa>cTa p.P842L STK36_uc002viv.3_Intron|STK36_uc002vix.3_5'UTR NM_015690 NP_056505 Q9NRP7 STK36_HUMAN Homo sapiens serine/threonine kinase 36 (STK36), transcript variant 1, mRNA. 842 cilium assembly|positive regulation of hh target transcription factor activity|positive regulation of smoothened signaling pathway|post-embryonic development aggresome|cytoplasm|focal adhesion|intermediate filament cytoskeleton|nucleus ATP binding|protein serine/threonine kinase activity|transcription factor binding biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(20)|ovary(4)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 52 Renal(207;0.0915) Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984) CGGTTGACTCCACCAGGTAGT 0.498000 38 49 0 0 0.00361006 0 0 NOD2 64127 broad.mit.edu 37 16 50745127 50745127 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr16:50745127G>A uc002egm.1 + 3 1410 c.1305G>A c.(1303-1305)agG>agA p.R435R NOD2_uc021tia.1_Silent_p.R267R|NOD2_uc010cbk.1_Silent_p.R408R|NOD2_uc002egl.1_Silent_p.R213R|NOD2_uc010cbl.1_Silent_p.R213R|NOD2_uc010cbm.1_Silent_p.R213R|NOD2_uc010cbn.1_Non-coding_Transcript|NOD2_uc010cbo.1_Non-coding_Transcript|NOD2_uc010cbp.1_5'Flank|NOD2_uc010cbq.1_5'Flank|NOD2_uc010cbr.1_5'Flank NM_022162 NP_071445 Q9HC29 NOD2_HUMAN Homo sapiens nucleotide-binding oligomerization domain containing 2 (NOD2), mRNA. 435 NACHT. JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of ERK1 and ERK2 cascade|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of Notch signaling pathway|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of gamma-delta T cell activation|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cell surface|cytosol|plasma membrane|vesicle ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3) 52 all_cancers(37;0.0156) CGTTCCTCAGGAAGTACATCC 0.622000 26 44 0 0 0.00361006 0 0 LOC146880 146880 broad.mit.edu 37 17 62750165 62750165 + RNA SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr17:62750165C>T uc010wqc.2 - 9 c.2193G>A Homo sapiens Rho GTPase activating protein 27 pseudogene (LOC146880), non-coding RNA. CCAGAATAATCTTGGTATCTT 0.388000 35 245 0 0 0.00361006 0 0 C2orf54 79919 broad.mit.edu 37 2 241826526 241826526 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:241826526G>A uc002wae.4 - 4 1464 c.1305C>T c.(1303-1305)atC>atT p.I435I C2orf54_uc002wac.3_Silent_p.I267I|C2orf54_uc002wad.3_Silent_p.I286I NM_001085437 NP_001078906 Q08AI8 CB054_HUMAN Homo sapiens chromosome 2 open reading frame 54 (C2orf54), transcript variant 1, mRNA. 435 haematopoietic_and_lymphoid_tissue(1)|lung(4)|prostate(1) 6 all_epithelial(40;3.99e-16)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15) TCTTCTGGAAGATGCTCTGCA 0.592000 22 33 0 0 0.00327116 0 0 PCDHAC2 56134 broad.mit.edu 37 5 140308012 140308012 + Missense_Mutation SNP C T T rs137957181 TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr5:140308012C>T uc003lih.2 + 0 1711 c.1535C>T c.(1534-1536)tCc>tTc p.S512F PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc003lic.2_Intron|PCDHAC2_uc003lif.2_Intron|PCDHAC2_uc003lie.1_Intron|PCDHAC2_uc003lig.1_Missense_Mutation_p.S512F NM_018898 NP_061721 Q9Y5I4 PCDC2_HUMAN Homo sapiens protocadherin alpha subfamily C, 1 (PCDHAC1), transcript variant 1, mRNA. 536 Cadherin 5. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 45 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCCAAAACTTCCTTTGACTTT 0.493000 69 25 0 0 0.00332997 0 0 VPS28 51160 broad.mit.edu 37 8 145649612 145649612 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr8:145649612G>A uc003zct.1 - 7 532 c.442C>T c.(442-444)Cgc>Tgc p.R148C VPS28_uc003zcs.1_Missense_Mutation_p.R148C NM_183057 NP_898880 Q9UK41 VPS28_HUMAN Homo sapiens vacuolar protein sorting 28 homolog (S. cerevisiae) (VPS28), transcript variant 2, mRNA. 148 VPS28 C-terminal. cellular membrane organization|endosome transport|negative regulation of protein ubiquitination|protein transport cytosol|late endosome membrane|plasma membrane protein binding kidney(1)|large_intestine(1)|lung(4)|prostate(1) 7 all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055) TCCATGGCGCGGATCTCCAGG 0.677000 62 19 0 0 0.00188189 0 0 CATSPER4 378807 broad.mit.edu 37 1 26524252 26524252 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:26524252C>T uc010oez.2 + 3 535 c.535C>T c.(535-537)Ccc>Tcc p.P179S CATSPER4_uc010oey.1_Intron|CATSPER4_uc009vsf.3_Non-coding_Transcript NM_198137 NP_937770 Q7RTX7 CTSR4_HUMAN Homo sapiens cation channel, sperm associated 4 (CATSPER4), mRNA. 179 cell differentiation|multicellular organismal development|spermatogenesis cilium|flagellar membrane|integral to membrane calcium channel activity|voltage-gated ion channel activity NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2) 27 all_cancers(24;2.05e-18)|Colorectal(325;0.000147)|Renal(390;0.00211)|all_lung(284;0.00218)|Lung NSC(340;0.00239)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0687) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.52e-26)|Colorectal(126;1.34e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000755)|BRCA - Breast invasive adenocarcinoma(304;0.000995)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00878)|READ - Rectum adenocarcinoma(331;0.0649) AATCAATATTCCCTCCATCAA 0.522000 19 36 0 0 0.00222228 0 0 PRSS58 136541 broad.mit.edu 37 7 141952364 141952364 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr7:141952364G>A uc003vxb.3 - 3 824 c.504C>T c.(502-504)gcC>gcT p.A168A PRSS58_uc003vxc.4_Silent_p.A168A NM_001001317 NP_001001317 Q8IYP2 PRS58_HUMAN Homo sapiens protease, serine, 58 (PRSS58), mRNA. 168 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity p.D167H(1) kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2) 19 AGGTTTTATAGGCATCGCGAC 0.428000 145 31 0 0 0.00209593 0 0 SHISA4 149345 broad.mit.edu 37 1 201860657 201860657 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:201860657C>T uc001gxa.3 + 3 826 c.508C>T c.(508-510)Cca>Tca p.P170S SHISA4_uc021phk.1_Non-coding_Transcript NM_198149 NP_937792 Q96DD7 SHSA4_HUMAN Homo sapiens shisa homolog 4 (Xenopus laevis) (SHISA4), transcript variant 1, mRNA. 170 Pro-rich. integral to membrane kidney(1)|lung(4) 5 TCCCCAATATCCACTCTACCC 0.612000 42 44 0 0 0.00361006 0 0 FAT3 120114 broad.mit.edu 37 11 92532464 92532464 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr11:92532464G>A uc001pdj.4 + 8 6302 c.6285G>A c.(6283-6285)gtG>gtA p.V2095V NM_001008781 NP_001008781 Q8TDW7 FAT3_HUMAN Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA. 2095 Cadherin 19. homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) CTGTTCAAGTGGATGCGGAAC 0.483000 TCGA Ovarian(4;0.039) 39 303 0 0 0.00361006 0 0 FLNB 2317 broad.mit.edu 37 3 58154221 58154221 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr3:58154221C>T uc003djj.2 + 43 7418 c.7253C>T c.(7252-7254)tCc>tTc p.S2418F FLNB_uc010hne.2_Missense_Mutation_p.S2449F|FLNB_uc003djk.2_Missense_Mutation_p.S2407F|FLNB_uc010hnf.2_Missense_Mutation_p.S2394F|FLNB_uc003djl.2_Missense_Mutation_p.S2238F|FLNB_uc003djm.2_Missense_Mutation_p.S2225F|BC041347_uc003djn.3_Intron NM_001457 NP_001448 O75369 FLNB_HUMAN Homo sapiens filamin B, beta (FLNB), transcript variant 2, mRNA. 2418 Interaction with INPPL1. actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction cell cortex|integral to membrane|nucleus|sarcomere actin binding NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5) 120 BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898) GGGACATTATCCGTCACCATC 0.488000 1 23 0 0 0.000878237 0 0 PAG1 55824 broad.mit.edu 37 8 81888983 81888983 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr8:81888983G>A uc003ybz.3 - 8 1806 c.1095C>T c.(1093-1095)ttC>ttT p.F365F NM_018440 NP_060910 Q9NWQ8 PAG1_HUMAN Homo sapiens phosphoprotein associated with glycosphingolipid microdomains 1 (PAG1), mRNA. 365 T cell receptor signaling pathway|epidermal growth factor receptor signaling pathway|intracellular signal transduction integral to membrane|intracellular|membrane raft|plasma membrane SH2 domain binding|SH3/SH2 adaptor activity breast(2)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(2) 11 Lung NSC(7;5.76e-06)|all_lung(9;2e-05) BRCA - Breast invasive adenocarcinoma(6;0.0567)|Epithelial(68;0.0634)|all cancers(69;0.197) GAGTTTTTTCGAAGTCTTTAA 0.507000 46 21 0 0 0.00188189 0 0 ARHGAP29 9411 broad.mit.edu 37 1 94650528 94650528 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:94650528C>T uc001dqj.4 - 17 2378 c.2009G>A c.(2008-2010)gGa>gAa p.G670E ARHGAP29_uc009wdq.1_Non-coding_Transcript|ARHGAP29_uc001dqk.3_Missense_Mutation_p.G236E NM_004815 NP_004806 Q52LW3 RHG29_HUMAN Homo sapiens Rho GTPase activating protein 29 (ARHGAP29), mRNA. 670 Rho protein signal transduction cytosol Rho GTPase activator activity|metal ion binding NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 54 all_lung(203;0.000732)|Lung NSC(277;0.00328) all cancers(265;0.0187)|Epithelial(280;0.159) GAATTCTGCTCCAAATAAGTG 0.348000 29 62 0 0 0.00361006 0 0 NUP62 23636 broad.mit.edu 37 19 50411714 50411714 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:50411714G>A uc002prb.3 - 1 1595 c.1351C>T c.(1351-1353)Ctc>Ttc p.L451F IL4I1_uc021uxy.1_Intron|IL4I1_uc002pqu.2_Intron|IL4I1_uc010eno.2_Intron|IL4I1_uc002pqv.2_Intron|NUP62_uc002pqx.3_Missense_Mutation_p.L451F|NUP62_uc002pqy.3_Missense_Mutation_p.L451F|NUP62_uc002pra.3_Missense_Mutation_p.L451F|NUP62_uc002pqz.3_Missense_Mutation_p.L451F|NUP62_uc002prc.3_Missense_Mutation_p.L375F|NUP62_uc021uya.1_Missense_Mutation_p.L451F NM_012346 NP_714941 P37198 NUP62_HUMAN Homo sapiens nucleoporin 62kDa (NUP62), transcript variant 4, mRNA. 451 carbohydrate metabolic process|cell death|cell surface receptor linked signaling pathway|glucose transport|hormone-mediated signaling pathway|mRNA transport|negative regulation of apoptosis|negative regulation of cell proliferation|nucleocytoplasmic transport|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|protein transport|regulation of glucose transport|transcription, DNA-dependent|transmembrane transport|viral reproduction cytoplasm|nuclear membrane|nuclear pore|nucleocytoplasmic shuttling complex|ribonucleoprotein complex|spindle pole SH2 domain binding|chromatin binding|protein serine/threonine kinase activity|receptor signaling complex scaffold activity|structural constituent of nuclear pore|thyroid hormone receptor binding|ubiquitin binding breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|stomach(1)|urinary_tract(2) 19 all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481) GBM - Glioblastoma multiforme(134;0.00242)|OV - Ovarian serous cystadenocarcinoma(262;0.0177) ATGTCCTTGAGATCCTGGGCC 0.592000 183 43 0 0 0.00321405 0 0 HMCN1 83872 broad.mit.edu 37 1 185934984 185934984 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:185934984G>A uc001grq.1 + 13 2378 c.2149G>A c.(2149-2151)Gat>Aat p.D717N HMCN1_uc001grr.1_Missense_Mutation_p.D58N NM_031935 NP_114141 Q96RW7 HMCN1_HUMAN Homo sapiens hemicentin 1 (HMCN1), mRNA. 717 Ig-like C2-type 4. response to stimulus|visual perception basement membrane calcium ion binding p.D717N(2) NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18) 308 TGCCCTTGGGGATATAACCGT 0.398000 73 28 0 0 0.00283554 0 0 OR6C65 403282 broad.mit.edu 37 12 55794521 55794521 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr12:55794521C>T uc010spl.2 + 0 209 c.209C>T c.(208-210)tCa>tTa p.S70L NM_001005518 NP_001005518 A6NJZ3 O6C65_HUMAN Homo sapiens olfactory receptor, family 6, subfamily C, member 65 (OR6C65), mRNA. 70 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(2)|large_intestine(3)|lung(9) 15 TTAGAAATTTCATTTACGACA 0.318000 35 17 0 0 0.000422831 0 0 MGAM 8972 broad.mit.edu 37 7 141759293 141759293 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr7:141759293G>A uc003vwy.3 + 31 3895 c.3841G>A c.(3841-3843)Gac>Aac p.D1281N NM_004668 NP_004659 O43451 MGA_HUMAN Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA. 1281 Glucoamylase. polysaccharide digestion|starch catabolic process apical plasma membrane|integral to membrane carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2) 13 Melanoma(164;0.0272) Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878) CTCAGACATCGACTACATGGA 0.567000 30 17 0 0 0.000958276 0 0 EPX 8288 broad.mit.edu 37 17 56272453 56272453 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr17:56272453C>T uc002ivq.3 + 5 842 c.723C>T c.(721-723)tcC>tcT p.S241S NM_000502 NP_000493 P11678 PERE_HUMAN Homo sapiens eosinophil peroxidase (EPX), mRNA. 241 hydrogen peroxide catabolic process heme binding|peroxidase activity|protein binding breast(2)|endometrium(9)|kidney(1)|large_intestine(9)|liver(2)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 48 CCCCGGAGTCCCCGGCCAGAG 0.617000 45 23 0 0 0.000720815 0 0 MBD5 55777 broad.mit.edu 37 2 149226928 149226928 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:149226928C>T uc002twm.4 + 8 2413 c.1416C>T c.(1414-1416)ttC>ttT p.F472F MBD5_uc010zbs.2_Non-coding_Transcript|MBD5_uc002twn.1_5'Flank NM_018328 NP_060798 Q9P267 MBD5_HUMAN Homo sapiens methyl-CpG binding domain protein 5 (MBD5), mRNA. 472 chromosome|nucleus DNA binding|chromatin binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3) 62 BRCA - Breast invasive adenocarcinoma(221;0.0569) ATGGAAATTTCATGATGCCAC 0.512000 27 26 0 0 0.00395357 0 0 PCDHB12 56124 broad.mit.edu 37 5 140588986 140588986 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr5:140588986C>T uc003liz.3 + 0 696 c.507C>T c.(505-507)agC>agT p.S169S PCDHB12_uc011dak.2_Intron NM_018932 NP_061755 Q9Y5F1 PCDBC_HUMAN Homo sapiens protocadherin beta 12 (PCDHB12), mRNA. 169 Cadherin 2. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1) 83 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CTGTAAAAAGCTACACAATAA 0.393000 41 15 0 0 0.00316338 0 0 RGPD5 84220 broad.mit.edu 37 2 113127769 113127770 + Missense_Mutation DNP GG AA AA TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:113127769_113127770GG>AA uc002ths.2 - 22 5475_5476 c.5283_5284CC>TT c.(5281-5286)tcccgt>tcTTgt p.R1762C RGPD5_uc010fkk.2_Missense_Mutation_p.R1622C NM_005054 NP_001157935 Q99666 RGPD5_HUMAN Homo sapiens RANBP2-like and GRIP domain containing 5 (RGPD5), transcript variant 1, mRNA. 1762 intracellular transport cytoplasm binding central_nervous_system(1) 1 CCAGAAGAACGGGAAGGATTTT 0.302000 60 40 0 0 6.4e-05 0 0 CCDC88C 440193 broad.mit.edu 37 14 91780260 91780260 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr14:91780260C>T uc010aty.3 - 14 2054 c.1900G>A c.(1900-1902)Gag>Aag p.E634K NM_001080414 NP_001073883 Q9P219 DAPLE_HUMAN Homo sapiens coiled-coil domain containing 88C (CCDC88C), mRNA. 634 Wnt receptor signaling pathway|microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation cytoplasm|insoluble fraction PDZ domain binding|microtubule binding|protein self-association central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1) 24 all_cancers(154;0.0468) AGCTCCCTCTCCAGCTTCTCT 0.627000 8 23 0 0 0.00278032 0 0 CCDC144A 9720 broad.mit.edu 37 17 16593811 16593811 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr17:16593811G>A uc002gqk.1 + 0 173 c.97G>A c.(97-99)Ggg>Agg p.G33R NM_014695 NP_055510 A2RUR9 C144A_HUMAN Homo sapiens coiled-coil domain containing 144A (CCDC144A), mRNA. 33 CGGGAGCCAGGGGGACCAGTG 0.657000 3 21 0 0 0.00152264 0 0 TRIM67 440730 broad.mit.edu 37 1 231333210 231333210 + Nonsense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:231333210C>T uc009xfn.1 + 1 1180 c.1138C>T c.(1138-1140)Cag>Tag p.Q380* NM_001004342 NP_001004342 Q6ZTA4 TRI67_HUMAN Homo sapiens tripartite motif containing 67 (TRIM67), mRNA. 380 cytoplasm|cytoskeleton zinc ion binding breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 29 Breast(184;0.0871) all_cancers(173;0.189)|Prostate(94;0.167) GCAGCAGATCCAGGTGAGCAC 0.468000 48 23 0 0 0.00332997 0 0 NMUR1 10316 broad.mit.edu 37 2 232393679 232393679 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:232393679C>T uc002vry.4 - 1 163 c.53G>A c.(52-54)gGg>gAg p.G18E NM_006056 NP_006047 Q9HB89 NMUR1_HUMAN Homo sapiens neuromedin U receptor 1 (NMUR1), mRNA. 18 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|calcium ion transport|calcium-mediated signaling|chloride transport|smooth muscle contraction integral to plasma membrane|membrane fraction neuromedin U receptor activity breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(12)|pancreas(1)|skin(1) 24 Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164) Epithelial(121;8.37e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142) CCTTGCACCCCCTGGGTACAG 0.572000 22 18 0 0 0.00152264 0 0 RPS6KL1 83694 broad.mit.edu 37 14 75376333 75376333 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr14:75376333C>T uc010tux.2 - 6 1711 c.1183G>A c.(1183-1185)Gag>Aag p.E395K RPS6KL1_uc010asd.2_Non-coding_Transcript|RPS6KL1_uc001xqx.1_Missense_Mutation_p.E147K|RPS6KL1_uc021rwp.1_Missense_Mutation_p.E364K NM_031464 NP_113652 Q9Y6S9 RPKL1_HUMAN Homo sapiens ribosomal protein S6 kinase-like 1 (RPS6KL1), mRNA. 395 Protein kinase. ribosome ATP binding|protein serine/threonine kinase activity central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 17 BRCA - Breast invasive adenocarcinoma(234;0.00658) ACCAGCATCTCTGCCGCCCAC 0.687000 50 21 0 0 0.00332997 0 0 TGFBR3 7049 broad.mit.edu 37 1 92185599 92185599 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:92185599G>A uc001doh.3 - 8 1779 c.1264C>T c.(1264-1266)Cct>Tct p.P422S TGFBR3_uc009wde.3_Missense_Mutation_p.P199S|TGFBR3_uc010osy.2_Missense_Mutation_p.P380S|TGFBR3_uc001doi.3_Missense_Mutation_p.P421S|TGFBR3_uc001doj.3_Missense_Mutation_p.P421S NM_003243 NP_003234 Q03167 TGBR3_HUMAN Homo sapiens transforming growth factor, beta receptor III (TGFBR3), transcript variant 1, mRNA. 422 BMP signaling pathway|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cell growth|cell migration|definitive erythrocyte differentiation|heart trabecula formation|immune response|intracellular protein kinase cascade|liver development|negative regulation of cellular component movement|negative regulation of epithelial cell proliferation|palate development|pathway-restricted SMAD protein phosphorylation|response to follicle-stimulating hormone stimulus|response to luteinizing hormone stimulus|response to prostaglandin E stimulus|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis external side of plasma membrane|extracellular space|inhibin-betaglycan-ActRII complex|integral to plasma membrane|intracellular membrane-bounded organelle PDZ domain binding|SMAD binding|coreceptor activity|heparin binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type III|type II transforming growth factor beta receptor binding endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(24)|ovary(3)|prostate(4)|skin(1)|stomach(1)|urinary_tract(3) 55 all_lung(203;0.00719)|Lung NSC(277;0.0268) all cancers(265;0.0108)|Epithelial(280;0.0825) TTTGGCCGAGGGAGCCCATCT 0.557000 44 109 0 0 0.00361006 0 0 CHD7 55636 broad.mit.edu 37 8 61655051 61655051 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr8:61655051C>T uc003xue.3 + 1 1552 c.1060C>T c.(1060-1062)Cca>Tca p.P354S CHD7_uc022aux.1_Missense_Mutation_p.P354S NM_017780 NP_060250 Q9P2D1 CHD7_HUMAN Homo sapiens chromodomain helicase DNA binding protein 7 (CHD7), mRNA. 354 T cell differentiation|central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|transcription, DNA-dependent nucleus ATP binding|DNA binding|chromatin binding|helicase activity NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3) 123 all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477) BRCA - Breast invasive adenocarcinoma(89;0.143) TGTAGGATTCCCATCAAACAG 0.438000 27 39 0 0 0.00128727 0 0 CSMD2 114784 broad.mit.edu 37 1 34052167 34052167 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:34052167C>T uc001bxm.1 - 45 7165 c.6988G>A c.(6988-6990)Gaa>Aaa p.E2330K CSMD2_uc001bxn.1_Missense_Mutation_p.E2332K NM_052896 NP_443128 Q7Z408 CSMD2_HUMAN Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA. 2332 Sushi 13. 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) GTCAGAATTTCATTCCCCACT 0.478000 23 48 0 0 0.00361006 0 0 FSTL4 23105 broad.mit.edu 37 5 132939621 132939621 + Silent SNP C T T rs148304695 TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr5:132939621C>T uc003kyn.1 - 1 272 c.54G>A c.(52-54)ccG>ccA p.P18P NM_015082 NP_055897 Q6MZW2 FSTL4_HUMAN Homo sapiens follistatin-like 4 (FSTL4), mRNA. 18 extracellular region calcium ion binding p.L17L(1) autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(8)|skin(2)|upper_aerodigestive_tract(1) 23 all_cancers(142;0.244) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) CCAGCGCAGCCGGCAGGGAGG 0.527000 38 37 0 0 0.00128727 0 0 POM121C 100101267 broad.mit.edu 37 7 75052288 75052288 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr7:75052288G>A uc003udk.4 - 12 2132 c.1247C>T c.(1246-1248)aCc>aTc p.T416I NM_001099415 NP_001092885 A8CG34 P121C_HUMAN Homo sapiens POM121 membrane glycoprotein C (POM121C), mRNA. 658 Pore side (Potential).|Ser-rich. mRNA transport|protein transport|transmembrane transport endoplasmic reticulum membrane|nuclear membrane|nuclear pore protein binding central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1) 14 TGCTTGAAGGGTTGGAGGTGC 0.602000 30 71 0 0 0.00361006 0 0 CDH22 64405 broad.mit.edu 37 20 44806775 44806775 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr20:44806775G>A uc002xrm.2 - 9 2124 c.1725C>T c.(1723-1725)ttC>ttT p.F575F CDH22_uc010ghk.1_Silent_p.F575F NM_021248 NP_067071 Q9UJ99 CAD22_HUMAN Homo sapiens cadherin 22, type 2 (CDH22), mRNA. 575 Cadherin 5. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3) 44 Myeloproliferative disorder(115;0.0122) TGGGCAGGAAGAACACGTCCT 0.647000 29 13 0 0 0.00136819 0 0 TCEB3C 162699 broad.mit.edu 37 18 44555149 44555149 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr18:44555149C>T uc010xdb.2 - 0 1301 c.1065G>A c.(1063-1065)gtG>gtA p.V355V KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.3_Intron NM_145653 NP_663628 Q8NG57 ELOA3_HUMAN Homo sapiens transcription elongation factor B polypeptide 3C (elongin A3) (TCEB3C), mRNA. 355 Activation domain (By similarity). regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to membrane|nucleus DNA binding NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(16)|skin(2) 30 GGACCCCTTCCACGTCGCCGA 0.647000 468 40 0 0 0.00361006 0 0 ZNF502 91392 broad.mit.edu 37 3 44762592 44762592 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr3:44762592C>T uc011baa.2 + 3 538 c.283C>T c.(283-285)Cct>Tct p.P95S ZNF502_uc003cns.3_Missense_Mutation_p.P95S|ZNF502_uc011bab.2_Missense_Mutation_p.P95S|ZNF502_uc003cnt.3_Missense_Mutation_p.P95S NM_001134440 NP_149987 Q8TBZ5 ZN502_HUMAN Homo sapiens zinc finger protein 502 (ZNF502), transcript variant 2, mRNA. 95 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|endometrium(4)|large_intestine(8)|lung(4)|prostate(1)|urinary_tract(1) 19 BRCA - Breast invasive adenocarcinoma(193;0.00855)|KIRC - Kidney renal clear cell carcinoma(197;0.0471)|Kidney(197;0.0589) AGAAGCACCCCCTGAAATTAT 0.423000 40 17 0 0 0.000422831 0 0 STXBP5L 9515 broad.mit.edu 37 3 120976108 120976108 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr3:120976108C>T uc003eec.4 + 16 1900 c.1760C>T c.(1759-1761)tCa>tTa p.S587L STXBP5L_uc011bji.2_Missense_Mutation_p.S587L NM_014980 NP_055795 Q9Y2K9 STB5L_HUMAN Homo sapiens syntaxin binding protein 5-like (STXBP5L), mRNA. 587 exocytosis|protein transport cytoplasm|integral to membrane|plasma membrane NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 68 GBM - Glioblastoma multiforme(114;0.0694) CTTCCTTCTTCAAGGAGTCTT 0.418000 63 54 0 0 0.00361006 0 0 OR52A1 23538 broad.mit.edu 37 11 5173450 5173450 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr11:5173450G>A uc010qyy.2 - 0 150 c.150C>T c.(148-150)atC>atT p.I50I NM_012375 NP_036507 Q9UKL2 O52A1_HUMAN Homo sapiens olfactory receptor, family 52, subfamily A, member 1 (OR52A1), mRNA. 50 sensory perception of smell integral to plasma membrane olfactory receptor activity breast(2)|endometrium(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2) 19 Medulloblastoma(188;0.00106)|Breast(177;0.0155)|all_neural(188;0.0189) Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CAGATTTGATGATGCTCAGAA 0.463000 24 19 0 0 0.00188189 0 0 CPB1 1360 broad.mit.edu 37 3 148559645 148559645 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr3:148559645C>T uc003ewl.3 + 5 533 c.510C>T c.(508-510)ttC>ttT p.F170F NM_001871 NP_001862 P15086 CBPB1_HUMAN Homo sapiens carboxypeptidase B1 (tissue) (CPB1), mRNA. 170 proteolysis extracellular region metallocarboxypeptidase activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 38 LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115) CTGCCATTTTCATGGACTGTG 0.438000 78 75 0 0 0.00361006 0 0 ZNF197 10168 broad.mit.edu 37 3 44684197 44684197 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr3:44684197C>T uc003cnm.3 + 5 1781 c.1575C>T c.(1573-1575)ctC>ctT p.L525L ZNF197_uc003cnn.3_Intron|ZNF197_uc003cno.3_Intron|ZNF197_uc003cnp.3_Intron NM_006991 NP_008922 O14709 ZN197_HUMAN Homo sapiens zinc finger protein 197 (ZNF197), transcript variant 1, mRNA. 525 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1) 25 KIRC - Kidney renal clear cell carcinoma(197;0.0478)|Kidney(197;0.0598) AGAAGAGCCTCATTCTGCACC 0.423000 41 76 0 0 0.00361006 0 0 MUC16 94025 broad.mit.edu 37 19 9089251 9089251 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:9089251G>A uc002mkp.3 - 0 2768 c.2564C>T c.(2563-2565)cCt>cTt p.P855L NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 855 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 ATGAGTGGAAGGAGTAGATGA 0.463000 27 41 0 0 0.00170553 0 0 ZNF671 79891 broad.mit.edu 37 19 58234583 58234583 + Splice_Site SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:58234583C>T uc002qpz.4 - 2 364 c.265_splice c.e2+1 p.G89_splice ZNF551_uc002qpx.3_Intron|ZNF671_uc010eug.3_Splice_Site_p.G12_splice|ZNF671_uc010yhf.2_Intron NM_024833 NP_079109 Q8TAW3 ZN671_HUMAN Homo sapiens zinc finger protein 671 (ZNF671), mRNA. 89 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding kidney(1)|large_intestine(6)|liver(1)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 22 Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257) GGACCTTACCCAGTGAGGCTA 0.468000 54 61 0 0 0.00361006 0 0 MUC17 140453 broad.mit.edu 37 7 100679937 100679937 + Missense_Mutation SNP G A A rs71286279 TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr7:100679937G>A uc003uxp.1 + 2 5293 c.5240G>A c.(5239-5241)gGa>gAa p.G1747E MUC17_uc010lho.1_Non-coding_Transcript NM_001040105 NP_001035194 Q685J3 MUC17_HUMAN Homo sapiens mucin 17, cell surface associated (MUC17), mRNA. 1747 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) CCTAGTGAAGGAACCACTCCA 0.512000 244 149 0 0 0.00361006 0 0 DUXA 503835 broad.mit.edu 37 19 57665801 57665801 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:57665801G>A uc002qoa.1 - 5 639 c.594C>T c.(592-594)ttC>ttT p.F198F NM_001012729 NP_001012747 A6NLW8 DUXA_HUMAN Homo sapiens double homeobox A (DUXA), mRNA. 198 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1) 17 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0123) TGGCTCCAGAGAAATGAGAGT 0.418000 47 16 0 0 0.00074312 0 0 PCDHAC2 56134 broad.mit.edu 37 5 140307836 140307836 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr5:140307836C>T uc003lih.2 + 0 1535 c.1359C>T c.(1357-1359)ttC>ttT p.F453F PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc003lic.2_Intron|PCDHAC2_uc003lif.2_Intron|PCDHAC2_uc003lie.1_Intron|PCDHAC2_uc003lig.1_Silent_p.F453F NM_018898 NP_061721 Q9Y5I4 PCDC2_HUMAN Homo sapiens protocadherin alpha subfamily C, 1 (PCDHAC1), transcript variant 1, mRNA. 477 Cadherin 4. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding p.F453F(1) NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 45 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGGAACTTTTCGTTGCTGAAA 0.532000 40 47 0 0 0.00361006 0 0 PANX1 24145 broad.mit.edu 37 11 93912978 93912978 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr11:93912978C>T uc001per.3 + 3 1141 c.756C>T c.(754-756)atC>atT p.I252I PANX1_uc001peq.3_Silent_p.I252I NM_015368 NP_056183 Q96RD7 PANX1_HUMAN Homo sapiens pannexin 1 (PANX1), mRNA. 252 positive regulation of interleukin-1 beta secretion|protein hexamerization|synaptic transmission bleb|endoplasmic reticulum membrane|gap junction|integral to membrane calcium channel activity|gap junction hemi-channel activity|leak channel activity|receptor binding p.G251W(2) endometrium(2)|large_intestine(2)|lung(13)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) AATCAGGGATCCTGAGAAACG 0.478000 4 55 0 0 0.00361006 0 0 OR8K5 219453 broad.mit.edu 37 11 55927433 55927433 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr11:55927433C>T uc010rja.2 - 0 361 c.361G>A c.(361-363)Gac>Aac p.D121N NM_001004058 NP_001004058 Q8NH50 OR8K5_HUMAN Homo sapiens olfactory receptor, family 8, subfamily K, member 5 (OR8K5), mRNA. 121 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.Y120N(1) large_intestine(3)|lung(24)|ovary(2)|pancreas(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 34 Esophageal squamous(21;0.00693) Lung NSC(402;0.197)|all_epithelial(135;0.236) ACATAGCGGTCATAGGCCATG 0.418000 50 48 0 0 0.00321405 0 0 DLEC1 9940 broad.mit.edu 37 3 38101301 38101301 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr3:38101301G>A uc003chp.1 + 2 652 c.631G>A c.(631-633)Gat>Aat p.D211N DLEC1_uc003cho.1_Missense_Mutation_p.D211N|DLEC1_uc010hgv.1_Missense_Mutation_p.D211N|DLEC1_uc010hgw.1_5'Flank|DLEC1_uc003chq.1_5'Flank NM_007337 NP_031363 Q9Y238 DLEC1_HUMAN Homo sapiens deleted in lung and esophageal cancer 1 (DLEC1), transcript variant DLEC1-S3, mRNA. 211 negative regulation of cell proliferation cytoplasm NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 51 KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827) CTCCCCAGAAGATTACTACAC 0.478000 144 61 0 0 0.00361006 0 0 EPG5 57724 broad.mit.edu 37 18 43535255 43535255 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr18:43535255G>A uc002lbm.3 - 1 213 c.113C>T c.(112-114)tCc>tTc p.S38F EPG5_uc002lbo.1_Missense_Mutation_p.S38F NM_020964 NP_066015 Q9HCE0 EPG5_HUMAN Homo sapiens ectopic P-granules autophagy protein 5 homolog (C. elegans) (EPG5), mRNA. 38 autophagy NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 95 TTTTGGAAGGGAGACTTCACT 0.398000 29 42 0 0 0.00321405 0 0 RP1 6101 broad.mit.edu 37 8 55540655 55540655 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr8:55540655G>A uc003xsd.1 + 3 4361 c.4213G>A c.(4213-4215)Gaa>Aaa p.E1405K RP1_uc011ldy.1_Intron NM_006269 NP_006260 P56715 RP1_HUMAN Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA. 1405 axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2) 169 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) TTGCCTAAGTGAAAAAGAAGC 0.318000 61 27 0 0 0.000720815 0 0 TTN 7273 broad.mit.edu 37 2 179590525 179590525 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:179590525C>T uc021vsy.1 - 66 17017 c.16792G>A c.(16792-16794)Gat>Aat p.D5598N TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.D2259N NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 6525 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) ACACAAGTATCACTTCCCACT 0.373000 79 42 0 0 0.00321405 0 0 TPO 7173 broad.mit.edu 37 2 1488382 1488382 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:1488382G>A uc002qwr.3 + 8 1439 c.1353G>A c.(1351-1353)agG>agA p.R451R TPO_uc010ewj.3_Non-coding_Transcript|TPO_uc002qww.3_Silent_p.R451R|TPO_uc002qwx.3_Silent_p.R451R|TPO_uc002qwu.3_Silent_p.R451R|TPO_uc010yio.2_Silent_p.R278R|TPO_uc010yip.2_Silent_p.R451R|TPO_uc002qwy.1_5'UTR|TPO_uc002qwz.3_Non-coding_Transcript NM_001206744 NP_001193673 P07202 PERT_HUMAN Homo sapiens thyroid peroxidase (TPO), transcript variant 6, mRNA. 451 cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process cell surface|cytoplasm|integral to plasma membrane calcium ion binding|heme binding|iodide peroxidase activity breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627) all_cancers(51;0.0338) all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12) Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550) TCACCCTGAGGGATTACATCC 0.577000 27 9 0 0 0.000673444 0 0 CCNA1 8900 broad.mit.edu 37 13 37014123 37014123 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr13:37014123G>A uc001uvr.4 + 5 1251 c.901G>A c.(901-903)Gaa>Aaa p.E301K CCNA1_uc010teo.2_Missense_Mutation_p.E257K|CCNA1_uc010abq.3_Missense_Mutation_p.E257K|CCNA1_uc010abp.3_Missense_Mutation_p.E257K|CCNA1_uc001uvs.4_Missense_Mutation_p.E300K|CCNA1_uc010abr.3_Intron NM_003914 NP_001104517 P78396 CCNA1_HUMAN Homo sapiens cyclin A1 (CCNA1), transcript variant 1, mRNA. 301 G2/M transition of mitotic cell cycle|cell division|male meiosis I|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|spermatogenesis cytosol|microtubule cytoskeleton|nucleoplasm protein kinase binding breast(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1) 35 Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174) KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169) all cancers(112;1.91e-07)|Epithelial(112;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0119)|GBM - Glioblastoma multiforme(144;0.0242) CAGGAAATATGAAGAGATATA 0.418000 12 17 0 0 0.00074312 0 0 ADAM10 102 broad.mit.edu 37 15 58936118 58936118 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr15:58936118G>A uc002afd.1 - 6 1239 c.795C>T c.(793-795)atC>atT p.I265I ADAM10_uc010bgc.1_Non-coding_Transcript|ADAM10_uc010ugz.1_Intron|ADAM10_uc002afe.1_Intron NM_001110 NP_001101 O14672 ADA10_HUMAN Homo sapiens ADAM metallopeptidase domain 10 (ADAM10), mRNA. 265 Peptidase M12B. Notch receptor processing|Notch signaling pathway|PMA-inducible membrane protein ectodomain proteolysis|cell-cell signaling|constitutive protein ectodomain proteolysis|epidermal growth factor receptor signaling pathway|in utero embryonic development|integrin-mediated signaling pathway|monocyte activation|negative regulation of cell adhesion|positive regulation of T cell chemotaxis|positive regulation of cell growth|positive regulation of cell proliferation|protein phosphorylation|response to tumor necrosis factor Golgi-associated vesicle|cell surface|endomembrane system|integral to membrane|nucleus|plasma membrane SH3 domain binding|integrin binding|metalloendopeptidase activity|protein homodimerization activity|protein kinase binding|zinc ion binding p.G264R(1) breast(1)|endometrium(1)|kidney(5)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3) 27 GBM - Glioblastoma multiforme(80;0.202) TGATGTTACGGATTCCGGAGA 0.338000 81 30 0 0 0.00375469 0 0 SLC43A3 29015 broad.mit.edu 37 11 57156618 57156618 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr11:57156618G>A uc001nkc.3 - 2 305 c.231C>T c.(229-231)atC>atT p.I77I SLC43A3_uc001nkd.3_Silent_p.I77I|SLC43A3_uc001nke.3_Silent_p.I357I NM_002728 NP_002719 Q8NBI5 S43A3_HUMAN Homo sapiens proteoglycan 2, bone marrow (natural killer cell activator, eosinophil granule major basic protein) (PRG2), transcript variant 1, mRNA. 0 transmembrane transport integral to membrane central_nervous_system(1)|endometrium(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 27 CTGGCACTGAGATAGACTCAA 0.557000 41 79 0 0 0.00361006 0 0 RAP1GDS1 5910 broad.mit.edu 37 4 99273742 99273742 + Silent SNP T C C TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr4:99273742T>C uc003htw.4 + 3 544 c.354T>C c.(352-354)tgT>tgC p.C118C RAP1GDS1_uc003htx.4_Silent_p.C117C|RAP1GDS1_uc003htv.4_Silent_p.C118C|RAP1GDS1_uc003htz.4_Silent_p.C117C|RAP1GDS1_uc003hty.4_Silent_p.C118C|RAP1GDS1_uc003hua.4_Silent_p.C118C NM_001100426 NP_001093896 P52306 GDS1_HUMAN Homo sapiens RAP1, GTP-GDP dissociation stimulator 1 (RAP1GDS1), transcript variant 1, mRNA. 117 GTPase activator activity|binding breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(1) 28 OV - Ovarian serous cystadenocarcinoma(123;2.9e-07)|LUSC - Lung squamous cell carcinoma(1;0.0253)|Lung(1;0.0576) GAAACATATGTTACGATAGCC 0.398000 T NUP98 T-ALL 17 7 0 0 0.00198382 0 0 SHANK1 50944 broad.mit.edu 37 19 51218985 51218985 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:51218985G>A uc002psx.1 - 2 481 c.462C>T c.(460-462)ttC>ttT p.F154F NM_016148 NP_057232 Q9Y566 SHAN1_HUMAN Homo sapiens SH3 and multiple ankyrin repeat domains 1 (SHANK1), mRNA. 154 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) TCTTGTATCGGAACTGAGGTC 0.532000 171 35 0 0 0.00195071 0 0 C5orf42 65250 broad.mit.edu 37 5 37183667 37183667 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr5:37183667C>T uc011cpa.1 - 25 4847 c.4616G>A c.(4615-4617)gGt>gAt p.G1539D C5orf42_uc011coy.1_Missense_Mutation_p.G40D|C5orf42_uc003jks.2_Non-coding_Transcript|C5orf42_uc011coz.1_Missense_Mutation_p.G614D|C5orf42_uc011cpb.1_Missense_Mutation_p.G420D NM_023073 NP_075561 E9PH94 E9PH94_HUMAN Homo sapiens chromosome 5 open reading frame 42 (C5orf42), mRNA. 1539 breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 79 all_lung(31;0.000616) COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202) TTCCCAAACACCTATTACAGG 0.323000 4 29 0 0 0.00106085 0 0 SLC44A5 204962 broad.mit.edu 37 1 75684175 75684175 + Splice_Site SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:75684175C>T uc010oqz.1 - 16 1712 c.1646_splice c.e16+1 p.R549_splice SLC44A5_uc001dgt.2_Splice_Site_p.R510_splice|SLC44A5_uc001dgs.2_Splice_Site_p.R468_splice|SLC44A5_uc001dgr.2_Splice_Site_p.R468_splice|SLC44A5_uc001dgu.3_Splice_Site_p.R510_splice|SLC44A5_uc010ora.2_Splice_Site_p.R504_splice|SLC44A5_uc010orb.2_Splice_Site_p.R380_splice NM_001130058 NP_001123530 Q8NCS7 CTL5_HUMAN Homo sapiens solute carrier family 44, member 5 (SLC44A5), transcript variant 2, mRNA. 510 integral to membrane|plasma membrane choline transmembrane transporter activity kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 61 TGAAACTTACCGTATGGCTCG 0.423000 43 102 0 0 0.00361006 0 0 NTNG1 22854 broad.mit.edu 37 1 107979412 107979412 + Missense_Mutation SNP G C C TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:107979412G>C uc001dvh.4 + 6 2099 c.1381G>C c.(1381-1383)Ggc>Cgc p.G461R NTNG1_uc001dvc.4_Intron|NTNG1_uc010out.2_Missense_Mutation_p.G427R|NTNG1_uc001dvf.4_Intron|NTNG1_uc001dvi.3_Silent_p.T28T|NTNG1_uc001dve.3_Non-coding_Transcript|NTNG1_uc009wek.3_Non-coding_Transcript|NTNG1_uc001dvg.3_Intron|NTNG1_uc009wem.3_Intron NM_001113226 NP_001106697 Q9Y2I2 NTNG1_HUMAN Homo sapiens netrin G1 (NTNG1), transcript variant 1, mRNA. 461 Laminin EGF-like 3. axonogenesis anchored to plasma membrane protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|soft_tissue(1)|urinary_tract(1) 37 all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243) Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245) CTGGCACTACGGCTGTCAACG 0.522000 29 8 0 0 0.000442599 0 0 DEFB127 140850 broad.mit.edu 37 20 138224 138224 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr20:138224G>A uc002wcy.1 + 0 39 c.39G>A c.(37-39)caG>caA p.Q13Q NM_139074 NP_620713 Q9H1M4 DB127_HUMAN Homo sapiens defensin, beta 127 (DEFB127), mRNA. 13 defense response to bacterium|innate immune response extracellular region NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4) 9 all_cancers(10;7.65e-05)|Lung NSC(37;0.0417)|all_epithelial(17;0.0676)|all_lung(30;0.0713)|Breast(17;0.231) OV - Ovarian serous cystadenocarcinoma(29;0.122) TGCTGTTCCAGAAACCCACAG 0.473000 30 52 0 0 0.00361006 0 0 PANX3 116337 broad.mit.edu 37 11 124489263 124489263 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr11:124489263C>T uc001qah.3 + 3 611 c.611C>T c.(610-612)tCg>tTg p.S204L NM_052959 NP_443191 Q96QZ0 PANX3_HUMAN Homo sapiens pannexin 3 (PANX3), mRNA. 204 protein hexamerization gap junction|integral to membrane gap junction hemi-channel activity|ion channel activity NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|urinary_tract(1) 26 all_hematologic(175;0.215) Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0219) CGTTCACATTCGCTAGTGGCT 0.512000 3 42 0 0 0.0025221 0 0 CLEC4C 170482 broad.mit.edu 37 12 7882278 7882278 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr12:7882278G>A uc001qtg.1 - 5 730 c.556C>T c.(556-558)Cgt>Tgt p.R186C CLEC4C_uc001qth.1_Missense_Mutation_p.R186C|CLEC4C_uc001qti.1_Missense_Mutation_p.R155C NM_130441 NP_569708 Q8WTT0 CLC4C_HUMAN Homo sapiens C-type lectin domain family 4, member C (CLEC4C), transcript variant 1, mRNA. 186 C-type lectin. innate immune response integral to membrane sugar binding autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 Kidney(36;0.0915) TCTGAAGAACGGAAATTTATT 0.398000 45 18 0 0 0.00074312 0 0 PAPPA2 60676 broad.mit.edu 37 1 176564661 176564661 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:176564661G>A uc001gkz.3 + 2 3085 c.1921G>A c.(1921-1923)Gac>Aac p.D641N PAPPA2_uc001gky.1_Missense_Mutation_p.D641N|PAPPA2_uc009www.3_Non-coding_Transcript NM_020318 NP_064714 Q9BXP8 PAPP2_HUMAN Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA. 641 Metalloprotease. cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding 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 CGACTTTGACGACGGAGACTG 0.597000 37 11 0 0 0.000978159 0 0 GPR123 84435 broad.mit.edu 37 10 134896174 134896174 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr10:134896174G>A uc001llw.3 + 5 1260 c.1260G>A c.(1258-1260)ctG>ctA p.L420L 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) GCCTTGGCCTGAGGTGGGCAT 0.622000 4 16 0 0 0.00074312 0 0 SLCO3A1 28232 broad.mit.edu 37 15 92706137 92706137 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr15:92706137C>T uc002bqx.2 + 9 2106 c.1905C>T c.(1903-1905)tcC>tcT p.S635S SLCO3A1_uc002bqy.2_Silent_p.S635S|SLCO3A1_uc002bqz.1_Silent_p.S577S NM_013272 NP_037404 Q9UIG8 SO3A1_HUMAN Homo sapiens solute carrier organic anion transporter family, member 3A1 (SLCO3A1), transcript variant 1, mRNA. 635 sodium-independent organic anion transport integral to membrane|plasma membrane sodium-independent organic anion transmembrane transporter activity breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2) 25 Lung NSC(78;0.0158)|all_lung(78;0.0255) BRCA - Breast invasive adenocarcinoma(143;0.0841) CGCTCAAATCCTTCGCCTTCA 0.542000 20 36 0 0 0.00195071 0 0 TBPL2 387332 broad.mit.edu 37 14 55902610 55902610 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr14:55902610C>T uc001xby.3 - 2 651 c.651G>A c.(649-651)ctG>ctA p.L217L NM_199047 NP_950248 Q6SJ96 TBPL2_HUMAN Homo sapiens TATA box binding protein like 2 (TBPL2), mRNA. 217 multicellular organismal development|transcription initiation from RNA polymerase II promoter cytoplasm|nucleus DNA binding endometrium(2)|kidney(1)|large_intestine(1)|lung(4) 8 CTATTTTCTTCAGATCCAACT 0.299000 54 22 0 0 0.00106085 0 0 DAB2 1601 broad.mit.edu 37 5 39376177 39376178 + Missense_Mutation DNP GG AA AA TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr5:39376177_39376178GG>AA uc003jlx.3 - 12 2699_2700 c.2168_2169CC>TT c.(2167-2169)tcc>tTT p.S723F DAB2_uc003jlw.3_Missense_Mutation_p.S702F NM_001343 NP_001334 P98082 DAB2_HUMAN Homo sapiens disabled homolog 2, mitogen-responsive phosphoprotein (Drosophila) (DAB2), transcript variant 1, mRNA. 723 Required for interaction with MYO6 (By similarity). cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway, planar cell polarity pathway|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent clathrin coated vesicle membrane|coated pit protein C-terminus binding autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(9)|lung(19)|prostate(2)|skin(4)|upper_aerodigestive_tract(2) 47 all_lung(31;0.000197) Epithelial(62;0.137) TAACTGGCAGGGAAACTTGTCT 0.436000 3 28 0 0 6.4e-05 0 0 C12orf51 283450 broad.mit.edu 37 12 112688077 112688077 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr12:112688077G>A uc021reb.1 - 24 3815 c.3419C>T c.(3418-3420)cCc>cTc p.P1140L C12orf51_uc010syk.1_Missense_Mutation_p.P674L|C12orf51_uc001tts.2_Missense_Mutation_p.P665L|C12orf51_uc001ttt.3_Missense_Mutation_p.P663L NM_001109662 NP_001103132 Homo sapiens chromosome 12 open reading frame 51 (C12orf51), mRNA. breast(1)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(6)|large_intestine(16)|lung(49)|ovary(4)|prostate(1)|urinary_tract(6) 100 GACATCAGAGGGGTAGGTGAA 0.547000 41 54 0 0 0.00361006 0 0 IL9 3578 broad.mit.edu 37 5 135228119 135228119 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr5:135228119G>A uc003lbb.1 - 4 407 c.396C>T c.(394-396)ttC>ttT p.F132F NM_000590 NP_000581 P15248 IL9_HUMAN Homo sapiens interleukin 9 (IL9), mRNA. 132 immune response|inflammatory response|positive regulation of cell proliferation|positive regulation of interleukin-5 biosynthetic process extracellular space cytokine activity|cytokine receptor binding|growth factor activity p.I131I(1) large_intestine(3)|lung(2)|pancreas(1) 6 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) TTTCTTTCTGGAAAATTTCCA 0.368000 60 31 0 0 0.0024448 0 0 DPEP3 64180 broad.mit.edu 37 16 68014061 68014061 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr16:68014061G>A uc002evc.4 - 0 392 c.298C>T c.(298-300)Ccc>Tcc p.P100S DPEP3_uc010cex.3_Missense_Mutation_p.P100S NM_022357 NP_071752 Q9H4B8 DPEP3_HUMAN Homo sapiens dipeptidase 3 (DPEP3), transcript variant 1, mRNA. 75 meiosis anchored to membrane dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity breast(4)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(2) 20 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0117)|Epithelial(162;0.0481)|all cancers(182;0.236) AGGGTTTTGGGGGTGCCTGGC 0.692000 51 10 0 0 0.00136819 0 0 ITPR1 3708 broad.mit.edu 37 3 4852968 4852968 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr3:4852968G>A uc003bqc.3 + 54 7597 c.7247G>A c.(7246-7248)aGa>aAa p.R2416K ITPR1_uc021wsi.1_Missense_Mutation_p.R2383K|ITPR1_uc021wsj.1_Missense_Mutation_p.R2368K|ITPR1_uc011asu.2_Missense_Mutation_p.R394K|ITPR1_uc010hcc.2_Missense_Mutation_p.R151K|ITPR1_uc011asv.2_Missense_Mutation_p.R107K NM_001168272 NP_001161744 Q14643 ITPR1_HUMAN Homo sapiens inositol 1,4,5-trisphosphate receptor, type 1 (ITPR1), transcript variant 3, mRNA. 2431 activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2) 106 Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982) TTAGTGTACAGAGAAGAGACT 0.373000 9 15 0 0 0.00316338 0 0 COL22A1 169044 broad.mit.edu 37 8 139626126 139626126 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr8:139626126C>T uc003yvd.3 - 55 4409 c.3962G>A c.(3961-3963)gGa>gAa p.G1321E COL22A1_uc011ljo.2_Missense_Mutation_p.G601E NM_152888 NP_690848 Q8NFW1 COMA1_HUMAN Homo sapiens collagen, type XXII, alpha 1 (COL22A1), mRNA. 1321 Collagen-like 13.|Gly-rich.|Pro-rich. cell adhesion collagen|cytoplasm structural molecule activity breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4) 211 all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0517) GCCCCTTGGTCCTTGGGGACC 0.502000 HNSCC(7;0.00092) 185 54 0 0 0.00361006 0 0 TRPM2 7226 broad.mit.edu 37 21 45821720 45821720 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr21:45821720C>T uc010gpt.1 + 15 2578 c.2478C>T c.(2476-2478)tcC>tcT p.S826S TRPM2_uc002zet.1_Silent_p.S826S|TRPM2_uc002zeu.1_Silent_p.S826S|TRPM2_uc021wjr.1_Non-coding_Transcript|TRPM2_uc002zew.1_Silent_p.S826S|TRPM2_uc002zex.1_Silent_p.S612S|TRPM2_uc002zey.1_Silent_p.S339S NM_003307 NP_003298 O94759 TRPM2_HUMAN Homo sapiens transient receptor potential cation channel, subfamily M, member 2 (TRPM2), transcript variant 1, mRNA. 826 integral to plasma membrane ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 76 CTGTGCCCTCCTGGTGCGAGT 0.637000 180 132 0 0 0.00361006 0 0 RPH3A 22895 broad.mit.edu 37 12 113303295 113303295 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr12:113303295G>A uc010syl.2 + 5 669 c.307G>A c.(307-309)Gaa>Aaa p.E103K RPH3A_uc001ttz.3_Missense_Mutation_p.E103K|RPH3A_uc001tty.3_Missense_Mutation_p.E99K|RPH3A_uc009zwe.1_Missense_Mutation_p.E99K|RPH3A_uc010sym.2_Missense_Mutation_p.E54K|RPH3A_uc001tua.3_5'Flank NM_001143854 NP_001137326 Q9Y2J0 RP3A_HUMAN Homo sapiens rabphilin 3A homolog (mouse) (RPH3A), transcript variant 1, mRNA. 103 RabBD. intracellular protein transport cell junction|synaptic vesicle Rab GTPase binding|transporter activity|zinc ion binding p.E99*(1) breast(1)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)|ovary(3)|prostate(4)|skin(6)|urinary_tract(1) 47 BRCA - Breast invasive adenocarcinoma(302;0.00453) ACTGTGTGGAGAACAGCTGGG 0.532000 28 47 0 0 0.00361006 0 0 TNFRSF1A 7132 broad.mit.edu 37 12 6438691 6438691 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr12:6438691G>A uc001qnu.3 - 9 1458 c.1155C>T c.(1153-1155)atC>atT p.I385I TNFRSF1A_uc001qnt.3_Silent_p.I277I|TNFRSF1A_uc010sey.2_Silent_p.I153I|TNFRSF1A_uc010sez.2_Silent_p.I277I|TNFRSF1A_uc009zek.3_Silent_p.I342I NM_001065 NP_001056 P19438 TNR1A_HUMAN Homo sapiens tumor necrosis factor receptor superfamily, member 1A (TNFRSF1A), mRNA. 385 Death. apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|inflammatory response|interspecies interaction between organisms|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of inflammatory response|positive regulation of transcription from RNA polymerase II promoter|prostaglandin metabolic process extracellular region|integral to plasma membrane|membrane raft tumor necrosis factor receptor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2) 19 CCAGCCGATCGATCTCGTGGT 0.701000 9 11 0 0 0.00244969 0 0 NLRP9 338321 broad.mit.edu 37 19 56243522 56243522 + Missense_Mutation SNP T C C TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:56243522T>C uc002qly.3 - 1 1703 c.1675A>G c.(1675-1677)Acc>Gcc p.T559A NM_176820 NP_789790 Q7RTR0 NALP9_HUMAN Homo sapiens NLR family, pyrin domain containing 9 (NLRP9), mRNA. 559 cytoplasm ATP binding NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3) 74 Colorectal(82;0.000133)|Ovarian(87;0.133) GBM - Glioblastoma multiforme(193;0.123) ATCACTTTGGTTACAAATTCT 0.333000 81 15 0 0 0.00316338 0 0 PPP4R4 57718 broad.mit.edu 37 14 94712823 94712823 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr14:94712823G>A uc001ycs.1 + 13 1712 c.1558G>A c.(1558-1560)Gat>Aat p.D520N NM_058237 NP_478144 Q6NUP7 PP4R4_HUMAN Homo sapiens protein phosphatase 4, regulatory subunit 4 (PPP4R4), transcript variant 1, mRNA. 520 cytoplasm|protein serine/threonine phosphatase complex protein binding p.D520N(2)|p.S519S(1) NS(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(15)|lung(10)|skin(7)|upper_aerodigestive_tract(2) 40 CATATCAAGCGATCAGATTTA 0.403000 47 74 0 0 0.00361006 0 0 PSG2 5670 broad.mit.edu 37 19 43585319 43585319 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:43585319C>T uc002ovr.3 - 1 316 c.144G>A c.(142-144)ggG>ggA p.G48G PSG4_uc010xwk.1_Intron NM_031246 NP_112536 P11465 PSG2_HUMAN Homo sapiens pregnancy specific beta-1-glycoprotein 2 (PSG2), mRNA. 48 Ig-like V-type. cell migration|female pregnancy extracellular region central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(24)|ovary(1)|pancreas(2)|prostate(6)|stomach(2)|urinary_tract(2) 49 Prostate(69;0.00682) GAACATCCTTCCCCTCGGAAA 0.478000 110 9 0 0 0.00316338 0 0 SLCO1C1 53919 broad.mit.edu 37 12 20876032 20876032 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr12:20876032C>T uc010sii.2 + 9 1385 c.1030C>T c.(1030-1032)Cca>Tca p.P344S SLCO1C1_uc010sij.2_Missense_Mutation_p.P295S|SLCO1C1_uc009zip.3_Missense_Mutation_p.P178S|SLCO1C1_uc001rei.3_Missense_Mutation_p.P344S|SLCO1C1_uc010sik.2_Missense_Mutation_p.P226S NM_001145946 NP_001139416 Q9NYB5 SO1C1_HUMAN Homo sapiens solute carrier organic anion transporter family, member 1C1 (SLCO1C1), transcript variant 1, mRNA. 344 sodium-independent organic anion transport integral to membrane|plasma membrane thyroid hormone transmembrane transporter activity p.P344S(3) NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 60 Esophageal squamous(101;0.149) AGATTTTCTTCCATCACTGAA 0.413000 33 30 0 0 0.00209593 0 0 TNS4 84951 broad.mit.edu 37 17 38652406 38652407 + Missense_Mutation DNP GG AT AT TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr17:38652406_38652407GG>AT uc010cxb.3 - 1 435_436 c.271_272CC>AT c.(271-273)cca>ATa p.P91I NM_032865 NP_116254 Q8IZW8 TENS4_HUMAN Homo sapiens tensin 4 (TNS4), mRNA. 91 apoptosis|protein localization cytoplasm|cytoskeleton|focal adhesion actin binding p.P91T(2) NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(1) 30 Breast(137;0.000496) STAD - Stomach adenocarcinoma(5;5.91e-05) AAGGTCCTCTGGGGTCCCCAAG 0.634000 7 53 0 0 6.4e-05 0 0 MPL 4352 broad.mit.edu 37 1 43805060 43805060 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:43805060C>T uc001ciw.3 + 3 555 c.510C>T c.(508-510)cgC>cgT p.R170R MPL_uc001civ.3_Silent_p.R170R|MPL_uc009vwr.3_Silent_p.R163R NM_005373 NP_005364 P40238 TPOR_HUMAN Homo sapiens myeloproliferative leukemia virus oncogene (MPL), mRNA. 170 Fibronectin type-III 1. cell proliferation|platelet activation integral to plasma membrane cytokine receptor activity central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(551)|large_intestine(3)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 567 all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) ACGAACTCCGCTATGGCCCCA 0.572000 Mis MPD MPD congenital amegakaryocytic thrombocytopenia 21 57 0 0 0.00361006 0 0 PGR 5241 broad.mit.edu 37 11 100999145 100999145 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr11:100999145C>T uc001pgh.2 - 0 1400 c.657G>A c.(655-657)gtG>gtA p.V219V PGR_uc001pgi.2_Silent_p.V219V|PGR_uc009yww.1_Non-coding_Transcript|PGR_uc001pgj.2_Non-coding_Transcript|PGR_uc009ywx.1_Non-coding_Transcript|FJ515873_uc010rum.2_5'Flank NM_000926 NP_000917 P06401 PRGR_HUMAN Homo sapiens progesterone receptor (PGR), transcript variant 2, mRNA. 219 Modulating, Pro-Rich. cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor cytoplasm|nucleoplasm enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 36 Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014) LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164) Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396) CCTCAACCTCCACCGCAGCGG 0.711000 2 13 0 0 0.00316338 0 0 WRAP53 55135 broad.mit.edu 37 17 7605064 7605064 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr17:7605064C>T uc010vuh.2 + 6 1067 c.912C>T c.(910-912)tcC>tcT p.S304S WRAP53_uc010vui.2_Silent_p.S304S|WRAP53_uc002gip.3_Silent_p.S304S|WRAP53_uc002gir.3_Silent_p.S304S|WRAP53_uc002giq.3_Non-coding_Transcript|WRAP53_uc010cnl.3_Silent_p.S271S|WRAP53_uc010vuj.2_Silent_p.S85S NM_001143990 NP_060551 Q9BUR4 WAP53_HUMAN Homo sapiens WD repeat containing, antisense to TP53 (WRAP53), transcript variant 2, mRNA. 304 positive regulation of telomerase activity|telomere formation via telomerase Cajal body|cytoplasm|telomerase holoenzyme complex RNA binding|protein binding endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(2) 18 GTGTTTTTTCCACGGCCCGGC 0.627000 6 53 0 0 0.00361006 0 0 ACSM2B 348158 broad.mit.edu 37 16 20548624 20548624 + Nonsense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr16:20548624G>A uc002dhj.4 - 14 1900 c.1690C>T c.(1690-1692)Cga>Tga p.R564* ACSM2B_uc002dhk.4_Nonsense_Mutation_p.R564* NM_182617 NP_872423 Q68CK6 ACS2B_HUMAN Homo sapiens acyl-CoA synthetase medium-chain family member 2B (ACSM2B), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 564 fatty acid metabolic process|xenobiotic metabolic process mitochondrial matrix ATP binding|CoA-ligase activity|butyrate-CoA ligase activity|metal ion binding p.R564*(4) breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5) 57 TCCTTGTCTCGAAGTTTGGTT 0.463000 86 113 0 0 0.00361006 0 0 PIP5K1B 8395 broad.mit.edu 37 9 71549895 71549895 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr9:71549895G>A uc004agu.3 + 12 1596 c.1291G>A c.(1291-1293)Gaa>Aaa p.E431K PIP5K1B_uc011lrq.2_Missense_Mutation_p.E431K|PIP5K1B_uc004agv.3_Non-coding_Transcript NM_003558 NP_003549 O14986 PI51B_HUMAN Homo sapiens phosphatidylinositol-4-phosphate 5-kinase, type I, beta (PIP5K1B), transcript variant 2, mRNA. 431 endomembrane system|membrane|uropod 1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|protein binding breast(1)|large_intestine(2)|stomach(1) 4 Lung(182;0.133) AATTAGCCAGGAATGGAAGGA 0.428000 12 24 0 0 0.00395357 0 0 STAT5B 6777 broad.mit.edu 37 17 40370323 40370323 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr17:40370323G>A uc002hzh.3 - 8 1184 c.1015C>T c.(1015-1017)Cct>Tct p.P339S STAT5B_uc002hzi.3_Missense_Mutation_p.P339S NM_012448 NP_036580 P51692 STA5B_HUMAN Homo sapiens signal transducer and activator of transcription 5B (STAT5B), mRNA. 339 2-oxoglutarate metabolic process|JAK-STAT cascade involved in growth hormone signaling pathway|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|fatty acid metabolic process|isoleucine metabolic process|oxaloacetate metabolic process|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process cytosol|nucleoplasm calcium ion binding|glucocorticoid receptor binding|sequence-specific DNA binding transcription factor activity breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 all_cancers(22;4.15e-07)|all_epithelial(22;2.83e-05)|Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.135) Dasatinib(DB01254) AGGACCTGAGGAGGCTGCTTC 0.612000 66 16 0 0 0.000958276 0 0 GLTSCR1 29998 broad.mit.edu 37 19 48204647 48204647 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:48204647C>T uc002phh.4 + 14 3852 c.3658C>T c.(3658-3660)Cgg>Tgg p.R1220W GLTSCR1_uc002phi.4_Missense_Mutation_p.R978W NM_015711 NP_056526 Q9NZM4 GSCR1_HUMAN Homo sapiens glioma tumor suppressor candidate region gene 1 (GLTSCR1), mRNA. 1220 protein binding breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|pancreas(3)|prostate(4)|skin(2) 20 all_cancers(25;1.8e-07)|all_lung(116;5.73e-06)|Lung NSC(112;9.69e-06)|all_epithelial(76;2.42e-05)|all_neural(266;0.0332)|Ovarian(192;0.086) all cancers(93;0.000358)|OV - Ovarian serous cystadenocarcinoma(262;0.000576)|Epithelial(262;0.0212)|GBM - Glioblastoma multiforme(486;0.0355) CGAGGGTCATCGGCTTCCCGG 0.682000 5 3 0 0 6.4e-05 0 0 DSCAM 1826 broad.mit.edu 37 21 41684257 41684257 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr21:41684257G>A uc002yyq.1 - 8 2265 c.1813C>T c.(1813-1815)Cca>Tca p.P605S DSCAM_uc002yyr.1_Non-coding_Transcript NM_001389 NP_001380 O60469 DSCAM_HUMAN Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA. 605 Ig-like C2-type 7. cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction protein binding NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4) 142 all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103) GAGAATCTTGGAAACTCAAAG 0.468000 18 13 0 0 0.00185496 0 0 ANKRD52 283373 broad.mit.edu 37 12 56637082 56637082 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr12:56637082G>A uc001skm.4 - 27 3165 c.3075C>T c.(3073-3075)gaC>gaT p.D1025D NM_173595 NP_775866 Q8NB46 ANR52_HUMAN Homo sapiens ankyrin repeat domain 52 (ANKRD52), mRNA. 1025 protein binding endometrium(9)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(1) 29 GACTGACGGCGTCCTTGGGTG 0.632000 39 19 0 0 0.00278032 0 0 SLC4A10 57282 broad.mit.edu 37 2 162821560 162821560 + Splice_Site SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:162821560G>A uc002ubx.4 + 23 3221 c.3037_splice c.e23-1 p.V1013_splice SLC4A10_uc010zcs.2_Splice_Site_p.V994_splice|SLC4A10_uc002uby.4_Splice_Site_p.V983_splice NM_001178015 NP_001171486 Q6U841 S4A10_HUMAN Homo sapiens solute carrier family 4, sodium bicarbonate transporter, member 10 (SLC4A10), transcript variant 1, mRNA. 1013 bicarbonate transport|chloride transport|sodium ion transport integral to membrane|plasma membrane inorganic anion exchanger activity|symporter activity endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 ATTTACTTCAGGTGTTAGCCC 0.368000 36 19 0 0 0.00074312 0 0 AGRN 375790 broad.mit.edu 37 1 981185 981185 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:981185C>T uc001ack.2 + 14 2659 c.2609C>T c.(2608-2610)cCc>cTc p.P870L NM_198576 NP_940978 O00468 AGRIN_HUMAN Homo sapiens agrin (AGRN), mRNA. 870 Laminin EGF-like 2. axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering basal lamina laminin binding|structural constituent of cytoskeleton breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 42 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) UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201) TCGTGTAAGCCCGGGGTGGCT 0.672000 22 72 0 0 0.00361006 0 0 DTX2P1-UPK3BP1-PMS2P11 441263 broad.mit.edu 37 7 76669317 76669317 + RNA SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr7:76669317C>T uc011kgn.1 + 6 c.1145C>T DTX2P1-UPK3BP1-PMS2P11_uc003ufy.2_Non-coding_Transcript Homo sapiens DTX2P1-UPK3BP1-PMS2P11 readthrough (non-protein coding) (DTX2P1-UPK3BP1-PMS2P11), non-coding RNA. GTCAGTCCATCAGATTTGCTC 0.413000 143 47 0 0 0.00361006 0 0 OR4K5 79317 broad.mit.edu 37 14 20388956 20388956 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr14:20388956G>A uc010tkw.2 + 0 191 c.191G>A c.(190-192)gGa>gAa p.G64E NM_001005483 NP_001005483 Q8NGD3 OR4K5_HUMAN Homo sapiens olfactory receptor, family 4, subfamily K, member 5 (OR4K5), mRNA. 64 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.L63F(1) central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1) 47 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) TTTCTCTTGGGAAACCTTTCC 0.433000 139 88 0 0 0.00361006 0 0 LPA 4018 broad.mit.edu 37 6 161006193 161006193 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr6:161006193C>T uc003qtl.3 - 26 4294 c.4174G>A c.(4174-4176)Gat>Aat p.D1392N NM_005577 NP_005568 P08519 APOA_HUMAN Homo sapiens lipoprotein, Lp(a) (LPA), mRNA. 3900 Kringle 13. blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis plasma lipoprotein particle apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1) 107 Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965) OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06) Aminocaproic Acid(DB00513) CTCTGTCCATCACCTCGGTAG 0.463000 10 106 0 0 0.00361006 0 0 NVL 4931 broad.mit.edu 37 1 224477369 224477369 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:224477369G>A uc001hok.3 - 12 1454 c.1392C>T c.(1390-1392)caC>caT p.H464H NVL_uc001hol.3_Silent_p.H358H|NVL_uc010pvd.2_Silent_p.H373H|NVL_uc010pve.2_Silent_p.H275H|NVL_uc010pvf.2_Non-coding_Transcript NM_002533 NP_002524 O15381 NVL_HUMAN Homo sapiens nuclear VCP-like (NVL), transcript variant 1, mRNA. 464 aggresome|cytoplasm|nucleolus ATP binding|nucleoside-triphosphatase activity breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|prostate(1)|skin(4)|soft_tissue(1)|urinary_tract(1) 42 GBM - Glioblastoma multiforme(131;0.00501) CTGGAGTTAGGTGTGCTAAGT 0.433000 33 17 0 0 0.00074312 0 0 SGK2 10110 broad.mit.edu 37 20 42199686 42199686 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr20:42199686C>T uc002xkv.3 + 6 895 c.676C>T c.(676-678)Ctc>Ttc p.L226F SGK2_uc002xkr.3_Missense_Mutation_p.L166F|SGK2_uc010ggm.3_Missense_Mutation_p.L166F|SGK2_uc002xkt.3_Non-coding_Transcript|SGK2_uc002xku.3_Missense_Mutation_p.L166F NM_016276 NP_733794 Q9HBY8 SGK2_HUMAN Homo sapiens serum/glucocorticoid regulated kinase 2 (SGK2), transcript variant 2, mRNA. 226 Protein kinase. intracellular protein kinase cascade|response to oxidative stress ATP binding|potassium channel regulator activity|protein serine/threonine kinase activity|sodium channel regulator activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 Myeloproliferative disorder(115;0.00452) COAD - Colon adenocarcinoma(18;0.0031) AGAGAACATTCTCTTGGACTG 0.498000 91 59 0 0 0.00361006 0 0 MRO 83876 broad.mit.edu 37 18 48333088 48333088 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr18:48333088C>T uc010dpa.3 - 2 423 c.274G>A c.(274-276)Gaa>Aaa p.E92K MRO_uc010xdn.2_Missense_Mutation_p.E78K|MRO_uc002lew.4_Missense_Mutation_p.E78K|MRO_uc010dpb.3_Missense_Mutation_p.E92K|MRO_uc010dpc.3_Missense_Mutation_p.E78K|MRO_uc002lex.4_Missense_Mutation_p.E78K NM_001127176 NP_001120648 Q9BYG7 MSTRO_HUMAN Homo sapiens maestro (MRO), transcript variant 4, mRNA. 78 nucleolus binding breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(2)|skin(2) 10 Colorectal(6;0.0596) Colorectal(21;0.082) TCAGGGGCTTCATAGGCCATG 0.547000 60 61 0 0 0.00361006 0 0 IL17RE 132014 broad.mit.edu 37 3 9948696 9948696 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr3:9948696C>T uc003btu.3 + 6 702 c.698C>T c.(697-699)aCc>aTc p.T233I CIDEC_uc003bto.3_Intron|IL17RE_uc003btv.3_Missense_Mutation_p.T193I|IL17RE_uc011atn.1_Non-coding_Transcript|IL17RE_uc003bty.3_Non-coding_Transcript|IL17RE_uc003btx.3_Missense_Mutation_p.T77I|IL17RE_uc010hcq.3_Missense_Mutation_p.T193I|IL17RE_uc003btw.3_Missense_Mutation_p.T193I NM_153483 NP_705616 Q8NFR9 I17RE_HUMAN Homo sapiens interleukin 17 receptor E (IL17RE), transcript variant 5, mRNA. 193 cytoplasm|extracellular region|integral to membrane receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(11)|skin(1) 21 OV - Ovarian serous cystadenocarcinoma(96;5.34e-64) ATTCGGGTGACCATATCTTCA 0.572000 48 25 0 0 0.00395357 0 0 USH1C 10083 broad.mit.edu 37 11 17523497 17523497 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr11:17523497G>A uc001mnf.3 - 15 1424 c.1315C>T c.(1315-1317)Ccc>Tcc p.P439S USH1C_uc001mne.3_Missense_Mutation_p.P739S|USH1C_uc009yhb.3_Missense_Mutation_p.P420S|USH1C_uc001mng.3_Non-coding_Transcript|USH1C_uc001mnd.3_Missense_Mutation_p.P403S NM_005709 NP_005700 Q9Y6N9 USH1C_HUMAN Homo sapiens Usher syndrome 1C (autosomal recessive, severe) (USH1C), transcript variant 1, mRNA. 439 G2/M transition of mitotic cell cycle|equilibrioception|photoreceptor cell maintenance|sensory perception of sound apical part of cell|cytoplasm|stereocilium protein binding central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1) 48 ATAGAGTAGGGGTCAAAGCCT 0.542000 24 7 0 0 0.00307968 0 0 UHRF1BP1 54887 broad.mit.edu 37 6 34839369 34839369 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr6:34839369C>T uc003oju.4 + 18 4224 c.3990C>T c.(3988-3990)atC>atT p.I1330I UHRF1BP1_uc010jvm.2_Non-coding_Transcript|UHRF1BP1_uc010jvn.3_Non-coding_Transcript|UHRF1BP1_uc010jvo.3_Non-coding_Transcript NM_017754 NP_060224 Q6BDS2 URFB1_HUMAN Homo sapiens UHRF1 binding protein 1 (UHRF1BP1), mRNA. 1330 breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2) 54 AGGATGATATCCCCCCCATCT 0.517000 26 37 0 0 0.00170553 0 0 HDAC9 9734 broad.mit.edu 37 7 19015469 19015469 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr7:19015469G>A uc003sui.3 + 23 3104 c.3063G>A c.(3061-3063)agG>agA p.R1021R HDAC9_uc003sue.3_Silent_p.R1018R|HDAC9_uc003suj.3_Silent_p.R977R|HDAC9_uc003suk.3_Silent_p.R266R NM_178425 NP_848512 Q9UKV0 HDAC9_HUMAN Homo sapiens histone deacetylase 9 (HDAC9), transcript variant 5, mRNA. 0 B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 82 all_lung(11;0.187) Valproic Acid(DB00313) CTGTGCCAAGGGGCTGTGCTC 0.478000 34 17 0 0 0.000958276 0 0 STX5 6811 broad.mit.edu 37 11 62592792 62592792 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr11:62592792G>A uc001nvh.3 - 6 717 c.560C>T c.(559-561)tCc>tTc p.S187F STX5_uc010rmj.2_Missense_Mutation_p.S187F|STX5_uc010rmi.2_Missense_Mutation_p.S91F NM_003164 NP_003155 Q13190 STX5_HUMAN Homo sapiens syntaxin 5 (STX5), transcript variant 1, mRNA. 187 intracellular protein transport|retrograde transport, endosome to Golgi|vesicle targeting ER-Golgi intermediate compartment membrane|Golgi membrane|SNARE complex|integral to membrane|nucleus SNAP receptor activity|protein N-terminus binding breast(2)|endometrium(2)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 18 GAAGTCATTGGACATAGAAGC 0.483000 236 122 0 0 0.00361006 0 0 ZNF341 84905 broad.mit.edu 37 20 32349802 32349802 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr20:32349802C>T uc002wzy.3 + 7 1183 c.1163C>T c.(1162-1164)tCt>tTt p.S388F ZNF341_uc002wzx.3_Missense_Mutation_p.S381F|ZNF341_uc010geq.3_Missense_Mutation_p.S298F|ZNF341_uc010ger.3_Non-coding_Transcript NM_032819 NP_116208 Q9BYN7 ZN341_HUMAN Homo sapiens zinc finger protein 341 (ZNF341), mRNA. 388 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3) 31 TCTCGAAACTCTGTGACCGTA 0.572000 153 59 0 0 0.00361006 0 0 LEPR 3953 broad.mit.edu 37 1 66081851 66081851 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:66081851C>T uc001dci.3 + 14 2545 c.2156C>T c.(2155-2157)tCa>tTa p.S719L LEPR_uc001dcg.3_Missense_Mutation_p.S719L|LEPR_uc001dch.3_Missense_Mutation_p.S719L|LEPR_uc009waq.3_Intron|LEPR_uc021ool.1_Missense_Mutation_p.S719L|LEPR_uc001dcj.3_Missense_Mutation_p.S719L|LEPR_uc001dck.3_Missense_Mutation_p.S719L NM_002303 NP_002294 P48357 LEPR_HUMAN Homo sapiens leptin receptor (LEPR), transcript variant 1, mRNA. 719 Fibronectin type-III 3. energy reserve metabolic process|multicellular organismal development extracellular region|integral to membrane|plasma membrane cytokine receptor activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2) 36 OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094) GCCATCAATTCAATTGGTGCT 0.403000 46 8 0 0 0.000442599 0 0 RSAD1 55316 broad.mit.edu 37 17 48562205 48562205 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr17:48562205C>T uc002iqw.1 + 8 1368 c.1312C>T c.(1312-1314)Cct>Tct p.P438S RSAD1_uc010wmq.1_Non-coding_Transcript NM_018346 NP_060816 Q9HA92 RSAD1_HUMAN Homo sapiens radical S-adenosyl methionine domain containing 1 (RSAD1), mRNA. 438 porphyrin biosynthetic process mitochondrion 4 iron, 4 sulfur cluster binding|coproporphyrinogen oxidase activity|metal ion binding breast(1)|endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1) 16 Breast(11;1.93e-18) BRCA - Breast invasive adenocarcinoma(22;1.55e-09) AACCCCCTCCCCTGTGCCAGG 0.577000 11 15 0 0 0.000422831 0 0 DNAH10 196385 broad.mit.edu 37 12 124335607 124335607 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr12:124335607G>A uc001uft.4 + 33 5946 c.5921G>A c.(5920-5922)gGc>gAc p.G1974D NM_207437 NP_997320 Q8IVF4 DYH10_HUMAN Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA. 1974 AAA 1 (By similarity). microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346) TTCTCTGAGGGCTTCCTGGAG 0.642000 36 15 0 0 0.000566183 0 0 ZNF486 90649 broad.mit.edu 37 19 20308600 20308600 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:20308600C>T uc002nou.2 + 3 1138 c.1081C>T c.(1081-1083)Cgc>Tgc p.R361C NM_052852 NP_443084 Q96H40 ZN486_HUMAN Homo sapiens zinc finger protein 486 (ZNF486), mRNA. 361 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1) 11 AGCCTTCACCCGCTCCTCACA 0.428000 19 23 0 0 0.00395357 0 0 GALNT10 55568 broad.mit.edu 37 5 153755896 153755896 + Nonsense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr5:153755896C>T uc003lvh.3 + 4 760 c.628C>T c.(628-630)Cga>Tga p.R210* GALNT10_uc003lvg.1_Nonsense_Mutation_p.R210*|GALNT10_uc010jic.3_Non-coding_Transcript|GALNT10_uc010jid.3_Intron NM_198321 NP_938080 Q86SR1 GLT10_HUMAN Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 10 (GalNAc-T10) (GALNT10), mRNA. 210 Catalytic subdomain A. Golgi membrane|integral to membrane metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding p.R210*(2)|p.L209L(1) cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 32 Renal(175;0.00488) Medulloblastoma(196;0.0354)|all_neural(177;0.147)|all_hematologic(541;0.21) Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577) GAGGATTCTTCGAACCAAGAA 0.502000 58 32 0 0 0.00178596 0 0 NLRP4 147945 broad.mit.edu 37 19 56390197 56390197 + Missense_Mutation SNP G A A rs141409047 TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:56390197G>A uc002qmd.4 + 8 3156 c.2734G>A c.(2734-2736)Gat>Aat p.D912N NLRP4_uc002qmf.3_Missense_Mutation_p.D837N|NLRP4_uc010etf.3_Missense_Mutation_p.D687N NM_134444 NP_604393 Q96MN2 NALP4_HUMAN Homo sapiens NLR family, pyrin domain containing 4 (NLRP4), mRNA. 912 ATP binding p.D912N(2) 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) CTGCTGTAAGGATCTCGCGTC 0.542000 48 7 0 0 0.00307968 0 0 SIGLEC11 114132 broad.mit.edu 37 19 50461796 50461797 + Missense_Mutation DNP GG AA AA TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:50461796_50461797GG>AA uc010ybh.2 - 7 1485_1486 c.1394_1395CC>TT c.(1393-1395)tcc>tTT p.S465F SIGLEC11_uc010ybi.2_Intron NM_052884 NP_443116 Q96RL6 SIG11_HUMAN Homo sapiens sialic acid binding Ig-like lectin 11 (SIGLEC11), transcript variant 1, mRNA. 465 cell adhesion integral to membrane sugar binding p.S465A(1) breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(6)|pancreas(1)|prostate(1)|skin(1) 32 all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17) GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517) CAGCCTCCCAGGAGCAGGAGGG 0.698000 24 6 0 0 6.4e-05 0 0 LIG1 3978 broad.mit.edu 37 19 48640929 48640929 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:48640929G>A uc002pia.1 - 12 1224 c.1104C>T c.(1102-1104)tcC>tcT p.S368S LIG1_uc010xze.1_Silent_p.S61S|LIG1_uc002phz.1_Non-coding_Transcript|LIG1_uc002pib.1_Non-coding_Transcript|LIG1_uc010xzf.1_Silent_p.S300S|LIG1_uc010xzg.1_Silent_p.S337S|LIG1_uc010xzh.1_Non-coding_Transcript NM_000234 NP_000225 P18858 DNLI1_HUMAN Homo sapiens ligase I, DNA, ATP-dependent (LIG1), mRNA. 368 DNA ligation involved in DNA repair|DNA strand elongation involved in DNA replication|S phase of mitotic cell cycle|anatomical structure morphogenesis|base-excision repair|cell division|double-strand break repair via homologous recombination|nucleotide-excision repair, DNA gap filling|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair nucleoplasm ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding breast(1)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(22)|prostate(2)|skin(1) 44 all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203) OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329) Bleomycin(DB00290) CAGCCCGGACGGACTCCAGCT 0.662000 Nucleotide excision repair (NER) 15 4 0 0 0.00116845 0 0 NEDD4L 23327 broad.mit.edu 37 18 56008369 56008369 + Nonsense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr18:56008369C>T uc002lgy.3 + 13 1508 c.1225C>T c.(1225-1227)Cga>Tga p.R409* NEDD4L_uc002lgz.3_Intron|NEDD4L_uc002lgx.3_Nonsense_Mutation_p.R389*|NEDD4L_uc010xee.1_Nonsense_Mutation_p.R288*|NEDD4L_uc002lhc.2_Nonsense_Mutation_p.R401*|NEDD4L_uc002lhd.2_Nonsense_Mutation_p.R288*|NEDD4L_uc002lhb.2_Nonsense_Mutation_p.R268*|NEDD4L_uc002lhe.2_Nonsense_Mutation_p.R381*|NEDD4L_uc002lhf.3_Nonsense_Mutation_p.R268*|NEDD4L_uc002lhg.3_Nonsense_Mutation_p.R288*|NEDD4L_uc002lhh.2_Intron|NEDD4L_uc010dpm.1_Intron NM_001144967 NP_001138439 Q96PU5 NED4L_HUMAN Homo sapiens neural precursor cell expressed, developmentally down-regulated 4-like (NEDD4L), transcript variant j, mRNA. 409 WW 2. cellular sodium ion homeostasis|excretion|interspecies interaction between organisms|positive regulation of endocytosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of protein catabolic process|response to metal ion|sodium ion transport|water homeostasis cytoplasm protein binding|sodium channel regulator activity|ubiquitin-protein ligase activity breast(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(11)|ovary(1)|prostate(4) 37 TCATAACAATCGAACCACAAC 0.488000 8 14 0 0 0.00316338 0 0 KLF17 128209 broad.mit.edu 37 1 44595237 44595237 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:44595237G>A uc001clp.3 + 1 352 c.294G>A c.(292-294)atG>atA p.M98I KLF17_uc009vxf.1_Missense_Mutation_p.M61I NM_173484 NP_775755 Q5JT82 KLF17_HUMAN Homo sapiens Kruppel-like factor 17 (KLF17), mRNA. 98 regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|large_intestine(1)|lung(6)|ovary(3)|prostate(1)|skin(2)|stomach(1) 18 Acute lymphoblastic leukemia(166;0.155) AGCGTGGTATGAGCTACTGCC 0.567000 34 89 0 0 0.00361006 0 0 PAPPA2 60676 broad.mit.edu 37 1 176762724 176762724 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:176762724C>T uc001gkz.3 + 19 6213 c.5049C>T c.(5047-5049)atC>atT p.I1683I PAPPA2_uc009www.3_Non-coding_Transcript NM_020318 NP_064714 Q9BXP8 PAPP2_HUMAN Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA. 1683 Sushi 5. cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding 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 TGTGTGTAATCCCCCCCAGTG 0.468000 31 41 0 0 0.00321405 0 0 BTBD9 114781 broad.mit.edu 37 6 38547997 38547997 + Missense_Mutation SNP C G G TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr6:38547997C>G uc003ooa.4 - 5 1607 c.1031G>C c.(1030-1032)aGc>aCc p.S344T BTBD9_uc010jwv.3_Missense_Mutation_p.S285T|BTBD9_uc003ony.4_Missense_Mutation_p.S276T|BTBD9_uc010jww.3_Non-coding_Transcript|BTBD9_uc010jwx.3_Missense_Mutation_p.S344T NM_052893 NP_689946 Q96Q07 BTBD9_HUMAN Homo sapiens BTB (POZ) domain containing 9 (BTBD9), transcript variant 1, mRNA. 344 cell adhesion p.N343S(1) breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|prostate(1) 12 CACTTACCGGCTATCTCGGTC 0.413000 26 16 0 0 0.000422831 0 0 NBPF14 25832 broad.mit.edu 37 1 148004557 148004557 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:148004557G>A uc001eqq.3 - 21 2789 c.2757C>T c.(2755-2757)ttC>ttT p.F919F NBPF14_uc001eqe.3_Intron|NBPF14_uc001eqf.3_Intron|NBPF14_uc001eqg.3_Intron|FLJ39739_uc001eqo.1_Intron|NBPF14_uc021ovz.1_Silent_p.F267F|NBPF14_uc021owa.1_Silent_p.F900F NM_015383 NP_056198 Q5TI25 NBPFE_HUMAN Homo sapiens neuroblastoma breakpoint family, member 14 (NBPF14), mRNA. 919 NBPF 10. cytoplasm NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(23)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1) 42 all_hematologic(923;0.032) CTTATTGTGGGAATATGACTC 0.463000 360 29 0 0 0.00361006 0 0 NME8 51314 broad.mit.edu 37 7 37916593 37916593 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr7:37916593C>T uc003tfn.3 + 11 1350 c.978C>T c.(976-978)ctC>ctT p.L326L NM_016616 NP_057700 Q8N427 TXND3_HUMAN Homo sapiens thioredoxin domain containing 3 (spermatozoa) (TXNDC3), mRNA. 326 NDK 2. CTP biosynthetic process|GTP biosynthetic process|UTP biosynthetic process|cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis cytoplasm|microtubule cytoskeleton ATP binding|nucleoside diphosphate kinase activity GACCAAATCTCTTTCATGAAA 0.303000 30 24 0 0 0.00127121 0 0 AVEN 57099 broad.mit.edu 37 15 34159738 34159739 + Silent DNP GG AA AA TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr15:34159738_34159739GG>AA uc001zhj.3 - 4 986_987 c.930_931CC>TT c.(928-933)gacctg>gaTTtg p.310_311DL>DL NM_020371 NP_065104 Q9NQS1 AVEN_HUMAN Homo sapiens apoptosis, caspase activation inhibitor (AVEN), mRNA. 310 anti-apoptosis|apoptosis endomembrane system|intracellular|membrane|membrane fraction protein binding p.L311P(1) cervix(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)|stomach(1) 7 all_lung(180;1.78e-08) all cancers(64;1.66e-15)|GBM - Glioblastoma multiforme(113;1.42e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0359) TTGGATTTCAGGTCCTGAGACG 0.426000 59 37 0 0 6.4e-05 0 0 LAMB1 3912 broad.mit.edu 37 7 107626734 107626734 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr7:107626734G>A uc003vev.2 - 3 731 c.570C>T c.(568-570)ttC>ttT p.F190F LAMB1_uc003vew.2_Silent_p.F166F|LAMB1_uc003vex.3_Silent_p.F166F|LAMB1_uc010ljn.1_Silent_p.F252F NM_002291 NP_002282 P07942 LAMB1_HUMAN Homo sapiens laminin, beta 1 (LAMB1), mRNA. 166 Laminin N-terminal. axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm extracellular matrix structural constituent NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3) 82 Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) AGTCATAGGCGAAGTATCTAT 0.448000 96 43 0 0 0.00361006 0 0 DSG4 147409 broad.mit.edu 37 18 28972276 28972276 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr18:28972276C>T uc002kwr.2 + 7 1113 c.978C>T c.(976-978)acC>acT p.T326T DSG4_uc002kwq.2_Silent_p.T326T NM_001134453 NP_001127925 Q86SJ6 DSG4_HUMAN Homo sapiens desmoglein 4 (DSG4), transcript variant 1, mRNA. 326 Cadherin 3. Missing (in LAH1). homophilic cell adhesion desmosome|integral to membrane calcium ion binding NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1) 70 OV - Ovarian serous cystadenocarcinoma(10;0.00504) ATCCACAAACCAATGAAGGCA 0.333000 27 17 0 0 0.00152264 0 0 LILRA1 11024 broad.mit.edu 37 19 55086256 55086256 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:55086256G>A uc010ern.3 + 4 880 c.411G>A c.(409-411)ggG>ggA p.G137G LILRA1_uc002qgg.4_Silent_p.G137G|LILRA1_uc002qgf.3_Silent_p.G137G|LILRA1_uc010yfe.1_Silent_p.G137G|LILRA1_uc010yff.1_Silent_p.G125G|LILRA1_uc010ero.3_Silent_p.G125G|LILRA1_uc010yfg.1_Silent_p.G137G O75019 LIRA1_HUMAN Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2 (LILRA2), transcript variant 2, mRNA. 139 Ig-like C2-type 2. cell surface receptor linked signaling pathway|defense response|regulation of immune response integral to membrane|plasma membrane antigen binding|transmembrane receptor activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1) 47 GBM - Glioblastoma multiforme(193;0.0348) CCTTAGGAGGGAACGTGACCC 0.557000 121 25 0 0 0.00395357 0 0 ADAM33 80332 broad.mit.edu 37 20 3655204 3655204 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr20:3655204C>T uc002wit.3 - 5 634 c.547G>A c.(547-549)Gat>Aat p.D183N ADAM33_uc002wir.1_Missense_Mutation_p.D183N|ADAM33_uc002wis.3_5'Flank|ADAM33_uc002wiu.3_Missense_Mutation_p.D183N|ADAM33_uc002wiw.1_Intron|ADAM33_uc010gba.1_Intron|ADAM33_uc010gbb.1_Intron|ADAM33_uc002wix.1_Intron|ADAM33_uc010zqg.1_Missense_Mutation_p.D195N|ADAM33_uc010zqh.1_Missense_Mutation_p.D183N NM_025220 NP_079496 Q9BZ11 ADA33_HUMAN Homo sapiens ADAM metallopeptidase domain 33 (ADAM33), transcript variant 1, mRNA. 183 proteolysis integral to membrane metalloendopeptidase activity|zinc ion binding p.R182M(1) haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|skin(3) 29 TTCCCAGGATCCCTGTGGCCA 0.607000 34 70 0 0 0.00361006 0 0 L3MBTL1 26013 broad.mit.edu 37 20 42162941 42162942 + Silent DNP CC TT TT rs143612275 TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr20:42162941_42162942CC>TT uc002xkn.1 + 7 755_756 c.624_625CC>TT c.(622-627)ttcctg>ttTTtg p.208_209FL>FL L3MBTL1_uc010zwh.2_Silent_p.517_518FL>FL|L3MBTL1_uc002xkm.3_Silent_p.449_450FL>FL|L3MBTL1_uc010ggl.3_Silent_p.449_450FL>FL|L3MBTL1_uc002xkl.3_Silent_p.449_450FL>FL|L3MBTL1_uc002xko.3_Silent_p.101_102FL>FL NM_015478 NP_056293 Q9Y468 LMBL1_HUMAN Homo sapiens l(3)mbt-like 1 (Drosophila) (L3MBTL1), transcript variant I, mRNA. 449 chromatin modification|hemopoiesis|negative regulation of transcription, DNA-dependent|regulation of megakaryocyte differentiation|regulation of mitosis chromatin|condensed chromosome|nucleoplasm SAM domain binding|identical protein binding|methylated histone residue binding|nucleosomal histone binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.S207L(1) breast(1)|large_intestine(3)|ovary(1)|skin(2) 7 CTCACAGCTTCCTGGTCAATAT 0.624000 69 26 0 0 6.4e-05 0 0 CASZ1 54897 broad.mit.edu 37 1 10714564 10714564 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:10714564C>T uc001aro.3 - 9 2070 c.1750G>A c.(1750-1752)Gac>Aac p.D584N CASZ1_uc001arp.1_Missense_Mutation_p.D584N|CASZ1_uc009vmx.2_Missense_Mutation_p.D608N NM_001079843 NP_001073312 Q86V15 CASZ1_HUMAN Homo sapiens castor zinc finger 1 (CASZ1), transcript variant 1, mRNA. 584 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1) 54 Ovarian(185;0.203)|all_lung(157;0.204) Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255) STAD - Stomach adenocarcinoma(5;0.0224) UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623) TGGAAGCCGTCGTTAATGAGC 0.572000 12 147 0 0 0.00361006 0 0 COL7A1 1294 broad.mit.edu 37 3 48624918 48624918 + Nonsense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr3:48624918C>T uc003ctz.2 - 21 2928 c.2927G>A c.(2926-2928)tGg>tAg p.W976* NM_000094 NP_000085 Q02388 CO7A1_HUMAN Homo sapiens collagen, type VII, alpha 1 (COL7A1), mRNA. 976 Fibronectin type-III 9.|Nonhelical region (NC1). cell adhesion|epidermis development basement membrane|collagen type VII protein binding|serine-type endopeptidase inhibitor activity NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5) 137 BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) CACTGGAGTCCAGGCCAAAGT 0.587000 3 31 0 0 0.00283554 0 0 TGFB1I1 7041 broad.mit.edu 37 16 31484848 31484848 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr16:31484848C>T uc002ecd.2 + 1 134 c.100C>T c.(100-102)Cct>Tct p.P34S TGFB1I1_uc021tgx.1_Missense_Mutation_p.P17S|TGFB1I1_uc002ece.2_Missense_Mutation_p.P17S NM_001042454 NP_057011 O43294 TGFI1_HUMAN Homo sapiens transforming growth factor beta 1 induced transcript 1 (TGFB1I1), transcript variant 1, mRNA. 34 Interaction with PTK2B.|Transcription activation (By similarity). Wnt receptor signaling pathway|androgen receptor signaling pathway|cell adhesion|negative regulation of cell proliferation|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|positive regulation of transforming growth factor beta receptor signaling pathway|transcription from RNA polymerase II promoter|ubiquitin-dependent SMAD protein catabolic process cytoplasm|cytoskeleton|focal adhesion|nuclear matrix I-SMAD binding|Roundabout binding|androgen receptor binding|transcription coactivator activity|zinc ion binding lung(8)|upper_aerodigestive_tract(1) 9 GCCTCTCACCCCTCCCCCATC 0.647000 34 22 0 0 0.00229938 0 0 DDX23 9416 broad.mit.edu 37 12 49233800 49233800 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr12:49233800G>A uc001rsm.3 - 3 501 c.410C>T c.(409-411)cCt>cTt p.P137L NM_004818 NP_004809 Q9BUQ8 DDX23_HUMAN Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 23 (DDX23), mRNA. 137 Glu-rich. P -> L (in Ref. 1; AAB87902). U5 snRNP|catalytic step 2 spliceosome|nucleoplasm ATP binding|ATP-dependent RNA helicase activity|nucleic acid binding|protein binding NS(1)|cervix(1)|kidney(4)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(3) 36 CTTTACCTTAGGCTTCTTATC 0.393000 184 150 0 0 0.00361006 0 0 CAMK2B 816 broad.mit.edu 37 7 44323761 44323761 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr7:44323761C>T uc003tkq.2 - 1 339 c.129G>A c.(127-129)aaG>aaA p.K43K CAMK2B_uc003tkp.2_Silent_p.K43K|CAMK2B_uc003tkr.2_Silent_p.K43K|CAMK2B_uc003tks.2_Silent_p.K43K|CAMK2B_uc003tku.2_Silent_p.K43K|CAMK2B_uc003tkv.2_Silent_p.K43K|CAMK2B_uc003tkt.2_Silent_p.K43K|CAMK2B_uc003tkw.2_Silent_p.K43K|CAMK2B_uc010kyc.2_Silent_p.K43K NM_001220 NP_001211 Q13554 KCC2B_HUMAN Homo sapiens calcium/calmodulin-dependent protein kinase II beta (CAMK2B), transcript variant 1, mRNA. 43 Protein kinase. interferon-gamma-mediated signaling pathway|synaptic transmission cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1) 18 TGTTGATGATCTTGGCTGCAT 0.617000 15 9 0 0 0.000673444 0 0 PCDH20 64881 broad.mit.edu 37 13 61986455 61986455 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr13:61986455C>T uc001vid.4 - 1 2141 c.1777G>A c.(1777-1779)Gtt>Att p.V593I PCDH20_uc010thj.2_Missense_Mutation_p.V593I NM_022843 NP_073754 Q8N6Y1 PCD20_HUMAN Homo sapiens protocadherin 20 (PCDH20), mRNA. 566 Cadherin 4. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 58 Breast(118;0.195)|Prostate(109;0.229) GBM - Glioblastoma multiforme(99;0.000118) TGAGTAGAAACTGTCAGAATT 0.473000 29 46 0 0 0.00361006 0 0 ZNF578 147660 broad.mit.edu 37 19 53014273 53014273 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:53014273C>T uc002pzp.4 + 5 883 c.639C>T c.(637-639)ttC>ttT p.F213F NM_001099694 NP_001093164 Q96N58 ZN578_HUMAN Homo sapiens zinc finger protein 578 (ZNF578), mRNA. 128 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01) ATAATTTTTTCCATTCATCAT 0.358000 110 30 0 0 0.00106085 0 0 MAS1L 116511 broad.mit.edu 37 6 29455367 29455367 + Missense_Mutation SNP T A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr6:29455367T>A uc011dlq.2 - 0 313 c.313A>T c.(313-315)Acg>Tcg p.T105S NM_052967 NP_443199 P35410 MAS1L_HUMAN Homo sapiens MAS1 oncogene-like (MAS1L), mRNA. 105 cytoplasm|integral to membrane|nucleus|plasma membrane G-protein coupled receptor activity p.T105T(1) NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(7)|pancreas(1)|prostate(2)|skin(2) 28 TAGGGATTCGTGGCCCCACAG 0.542000 27 25 0 0 0.00332997 0 0 RASGRP4 115727 broad.mit.edu 37 19 38912609 38912609 + Splice_Site SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:38912609C>T uc021uub.1 - 2 422 c.208_splice c.e2+1 p.D70_splice RASGRP4_uc010efz.2_5'Flank|RASGRP4_uc010ega.2_5'Flank|RASGRP4_uc021utz.1_Splice_Site_p.D70_splice|RASGRP4_uc021uua.1_Splice_Site_p.D70_splice|RASGRP4_uc021uuc.1_Splice_Site_p.D70_splice|RASGRP4_uc021uud.1_Splice_Site_p.D70_splice|RASGRP4_uc021uue.1_Splice_Site_p.D70_splice|RASGRP4_uc021uuf.1_Splice_Site_p.D70_splice NM_170604 NP_733749 Q8TDF6 GRP4_HUMAN Homo sapiens RAS guanyl releasing protein 4 (RASGRP4), transcript variant a, mRNA. 70 N-terminal Ras-GEF. activation of phospholipase C activity|cell growth|cell proliferation|myeloid cell differentiation|positive regulation of Ras protein signal transduction|regulation of G-protein coupled receptor protein signaling pathway|response to extracellular stimulus|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway cytoplasm|membrane fraction|plasma membrane|soluble fraction GTP-dependent protein binding|Ras guanyl-nucleotide exchange factor activity|diacylglycerol binding|metal ion binding cervix(1)|kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|prostate(3)|skin(1) 23 all_cancers(60;4.21e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) GGACACTTACCGAAGGACTGG 0.572000 8 3 0 0 6.4e-05 0 0 SLC17A6 57084 broad.mit.edu 37 11 22399035 22399035 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr11:22399035G>A uc001mqk.3 + 11 1911 c.1498G>A c.(1498-1500)Gga>Aga p.G500R NM_020346 NP_065079 Q9P2U8 VGLU2_HUMAN Homo sapiens solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 6 (SLC17A6), mRNA. 500 sodium ion transport cell junction|integral to membrane|synaptic vesicle membrane|synaptosome L-glutamate transmembrane transporter activity|symporter activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3) 50 ATTTGCCTCAGGAGAGAAACA 0.438000 22 14 0 0 0.00185496 0 0 SHB 6461 broad.mit.edu 37 9 37955894 37955894 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr9:37955894G>A uc004aax.3 - 3 1780 c.1212C>T c.(1210-1212)ccC>ccT p.P404P NM_003028 NP_003019 Q15464 SHB_HUMAN Homo sapiens Src homology 2 domain containing adaptor protein B (SHB), mRNA. 404 Mediates interaction with LAT, FAK1, JAK1 and JAK3. angiogenesis|apoptosis|cell differentiation|signal transduction cytoplasm|plasma membrane SH3/SH2 adaptor activity central_nervous_system(2)|endometrium(4)|lung(1)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1) 11 all_epithelial(88;0.122) GBM - Glioblastoma multiforme(29;3.27e-05)|Lung(182;0.0658) GCTTCTCCAGGGGGACGGCAG 0.527000 3 24 0 0 0.001512 0 0 LYZ 4069 broad.mit.edu 37 12 69742288 69742288 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr12:69742288G>A uc001suw.2 + 0 155 c.100G>A c.(100-102)Gga>Aga p.G34R NM_000239 NP_000230 P61626 LYSC_HUMAN Homo sapiens lysozyme (LYZ), mRNA. 34 cell wall macromolecule catabolic process|cytolysis|defense response to bacterium|inflammatory response extracellular space lysozyme activity|protein binding endometrium(2)|lung(1)|upper_aerodigestive_tract(1) 4 all_epithelial(5;2.98e-35)|Lung NSC(4;9.93e-33)|all_lung(4;5.66e-31)|Breast(13;2.56e-06)|Esophageal squamous(21;0.187) Epithelial(6;8.26e-19)|BRCA - Breast invasive adenocarcinoma(5;8.5e-10)|Lung(24;9.68e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00503)|OV - Ovarian serous cystadenocarcinoma(12;0.00691)|LUSC - Lung squamous cell carcinoma(43;0.24)|Kidney(9;0.241) GAAAAGATTGGGAATGGATGG 0.473000 41 10 0 0 0.000978159 0 0 ATG2B 55102 broad.mit.edu 37 14 96811000 96811000 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr14:96811000C>T uc001yfi.3 - 3 937 c.572G>A c.(571-573)cGa>cAa p.R191Q NM_018036 NP_060506 Q96BY7 ATG2B_HUMAN Homo sapiens ATG2 autophagy related 2 homolog B (S. cerevisiae) (ATG2B), mRNA. 191 breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7) 64 all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155) Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244) CCTTTCTATTCGAATTTCAAG 0.313000 31 15 0 0 0.00244969 0 0 C15orf59 388135 broad.mit.edu 37 15 74032412 74032412 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr15:74032412G>A uc002avy.3 - 1 1073 c.728C>T c.(727-729)tCt>tTt p.S243F NM_001039614 NP_001034703 Q2T9L4 CO059_HUMAN Homo sapiens chromosome 15 open reading frame 59 (C15orf59), mRNA. 243 breast(1)|endometrium(2)|large_intestine(2)|lung(6)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 GGTCAGTGGAGAGCGCCGTGA 0.637000 41 33 0 0 0.00178596 0 0 PPARA 5465 broad.mit.edu 37 22 46594462 46594462 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr22:46594462C>T uc003bhb.1 + 1 305 c.182C>T c.(181-183)cCt>cTt p.P61L PPARA_uc003bgw.1_Missense_Mutation_p.P61L|PPARA_uc003bgx.1_Missense_Mutation_p.P61L|PPARA_uc010hab.1_Missense_Mutation_p.P61L|PPARA_uc003bgy.1_Non-coding_Transcript|PPARA_uc003bgz.1_Non-coding_Transcript|PPARA_uc003bha.3_Missense_Mutation_p.P61L|PPARA_uc010hac.1_5'UTR NM_005036 NP_005027 Q07869 PPARA_HUMAN Homo sapiens peroxisome proliferator-activated receptor alpha (PPARA), transcript variant 5, mRNA. 61 fatty acid metabolic process|fatty acid transport|negative regulation of appetite|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|negative regulation of receptor biosynthetic process|negative regulation of sequestering of triglyceride|negative regulation of transcription from RNA polymerase II promoter|positive regulation of fatty acid beta-oxidation|regulation of cellular ketone metabolic process by positive regulation of transcription from an RNA polymerase II promoter|regulation of glycolysis by positive regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by positive regulation of transcription from an RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm drug binding|ligand-regulated transcription factor activity|lipid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|ubiquitin conjugating enzyme binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 15 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.00522) Atorvastatin(DB01076)|Bezafibrate(DB01393)|Clofibrate(DB00636)|Fenofibrate(DB01039)|Gemfibrozil(DB01241)|Simvastatin(DB00641) GGAAGCTGTCCTGGCTCAGAT 0.428000 61 62 0 0 0.00361006 0 0 SLCO5A1 81796 broad.mit.edu 37 8 70667783 70667783 + Missense_Mutation SNP T A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr8:70667783T>A uc003xyl.3 - 3 1841 c.1134A>T c.(1132-1134)aaA>aaT p.K378N SLCO5A1_uc010lzb.3_Missense_Mutation_p.K378N|SLCO5A1_uc011lfa.2_Intron|SLCO5A1_uc003xyk.3_Missense_Mutation_p.K378N|SLCO5A1_uc010lzc.2_Missense_Mutation_p.K378N NM_030958 NP_112220 Q9H2Y9 SO5A1_HUMAN Homo sapiens solute carrier organic anion transporter family, member 5A1 (SLCO5A1), transcript variant 1, mRNA. 378 Poly-Lys. integral to membrane|plasma membrane transporter activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 53 Breast(64;0.0654) Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594) TCTTTTTCTTTTTCTTGTGTC 0.368000 42 26 0 0 0.00395357 0 0 SERPINI2 5276 broad.mit.edu 37 3 167189520 167189520 + Nonsense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr3:167189520G>A uc003fes.1 - 1 204 c.133C>T c.(133-135)Caa>Taa p.Q45* SERPINI2_uc003fer.1_Nonsense_Mutation_p.Q35*|SERPINI2_uc003fet.1_Nonsense_Mutation_p.Q35* NM_006217 NP_006208 O75830 SPI2_HUMAN Homo sapiens serpin peptidase inhibitor, clade I (pancpin), member 2 (SERPINI2), mRNA. 35 cellular component movement|regulation of proteolysis extracellular region serine-type endopeptidase inhibitor activity NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(20)|prostate(1)|skin(5)|urinary_tract(1) 41 GAAACCTCTTGATAAAGATCC 0.393000 89 92 0 0 0.00361006 0 0 FZD10 11211 broad.mit.edu 37 12 130648351 130648351 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr12:130648351C>T uc001uii.3 + 0 1348 c.864C>T c.(862-864)atC>atT p.I288I FLJ31485_uc001uig.2_5'Flank|FLJ31485_uc001uih.2_5'Flank NM_007197 NP_009128 Q9ULW2 FZD10_HUMAN Homo sapiens frizzled family receptor 10 (FZD10), mRNA. 288 brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|gonad development|negative regulation of Rho GTPase activity|neuron differentiation|non-canonical Wnt receptor signaling pathway|positive regulation of JUN kinase activity|positive regulation of Rac GTPase activity|regulation of actin cytoskeleton organization|vasculature development cell projection|cell surface|cytoplasm|integral to plasma membrane G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|pancreas(1)|prostate(3)|urinary_tract(1) 35 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05) CCGAGAGCATCGCCTGCGACC 0.642000 36 46 0 0 0.00361006 0 0 INADL 10207 broad.mit.edu 37 1 62330101 62330101 + Missense_Mutation SNP G C C TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:62330101G>C uc001dab.3 + 19 2745 c.2631G>C c.(2629-2631)gaG>gaC p.E877D INADL_uc009waf.1_Missense_Mutation_p.E877D|INADL_uc001daa.2_Missense_Mutation_p.E877D|INADL_uc001dad.3_Missense_Mutation_p.E574D|INADL_uc001dac.3_Non-coding_Transcript NM_176877 NP_795352 Q8NI35 INADL_HUMAN Homo sapiens InaD-like (Drosophila) (INADL), mRNA. 877 intracellular signal transduction|tight junction assembly apical plasma membrane|perinuclear region of cytoplasm|tight junction protein binding breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3) 103 AAGAATATGAGTTATATCAAG 0.438000 75 21 0 0 0.00229938 0 0 PCLO 27445 broad.mit.edu 37 7 82579186 82579186 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr7:82579186G>A uc003uhx.2 - 5 11007 c.10718C>T c.(10717-10719)tCa>tTa p.S3573L PCLO_uc003uhv.2_Missense_Mutation_p.S3573L|PCLO_uc010lec.3_Missense_Mutation_p.S538L NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA. 3504 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 TTGTGTGTCTGAATCTGCTTC 0.453000 69 57 0 0 0.00361006 0 0 MUC16 94025 broad.mit.edu 37 19 9090497 9090497 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:9090497G>A uc002mkp.3 - 0 1522 c.1318C>T c.(1318-1320)Ctt>Ttt p.L440F NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 440 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 GAGGTCTCAAGTGGAGTCATA 0.473000 49 80 0 0 0.00361006 0 0 ZP1 22917 broad.mit.edu 37 11 60635174 60635174 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr11:60635174G>A uc001nqd.3 + 0 160 c.140G>A c.(139-141)gGa>gAa p.G47E ZP1_uc001nqe.3_5'Flank NM_207341 NP_997224 P60852 ZP1_HUMAN Homo sapiens zona pellucida glycoprotein 1 (sperm receptor) (ZP1), mRNA. 47 single fertilization integral to membrane|plasma membrane|proteinaceous extracellular matrix breast(3)|endometrium(2)|large_intestine(8)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 26 GGGATCAAGGGAATGCAGCTG 0.682000 9 20 0 0 0.00188189 0 0 AK5 26289 broad.mit.edu 37 1 77763292 77763292 + Missense_Mutation SNP G A A rs141828356 TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:77763292G>A uc001dhn.3 + 3 801 c.464G>A c.(463-465)cGa>cAa p.R155Q AK5_uc001dho.3_Missense_Mutation_p.R129Q|AK5_uc001dhm.2_Missense_Mutation_p.R131Q NM_174858 NP_036225 Q9Y6K8 KAD5_HUMAN Homo sapiens adenylate kinase 5 (AK5), transcript variant 1, mRNA. 155 ADP biosynthetic process|ATP metabolic process|dADP biosynthetic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine ribonucleotide biosynthetic process|signal transduction centrosome|cytosol ATP binding|adenylate kinase activity|cAMP-dependent protein kinase regulator activity|nucleoside kinase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|prostate(1)|skin(2)|stomach(1) 40 ATTGCAGAACGATATGGATTC 0.383000 66 11 0 0 0.00136819 0 0 OGDHL 55753 broad.mit.edu 37 10 50952113 50952113 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr10:50952113G>A uc009xog.3 - 12 1903 c.1869C>T c.(1867-1869)atC>atT p.I623I OGDHL_uc001jie.3_Silent_p.I596I|OGDHL_uc010qgt.2_Silent_p.I539I|OGDHL_uc010qgu.2_Silent_p.I387I|OGDHL_uc009xoh.2_Silent_p.I387I NM_001143997 NP_001137469 Q9ULD0 OGDHL_HUMAN Homo sapiens oxoglutarate dehydrogenase-like (OGDHL), nuclear gene encoding mitochondrial protein, transcript variant 3, mRNA. 596 S -> C (in dbSNP:rs34877195). glycolysis mitochondrial matrix oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1) 61 TGTCCTCAGGGATCCCCGTGG 0.597000 15 25 0 0 0.00395357 0 0 NGEF 25791 broad.mit.edu 37 2 233839559 233839559 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:233839559C>T uc002vts.2 - 1 290 c.42G>A c.(40-42)agG>agA p.R14R NM_019850 NP_062824 Q8N5V2 NGEF_HUMAN Homo sapiens neuronal guanine nucleotide exchange factor (NGEF), transcript variant 1, mRNA. 14 Regulatory region; modulates activity toward RHOA, RAC1 and CDC42 (By similarity). apoptosis|cell differentiation|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|growth cone|plasma membrane Rho guanyl-nucleotide exchange factor activity central_nervous_system(4)|endometrium(8)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|skin(4) 35 Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.00793)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839) Epithelial(121;8.65e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(119;0.00984)|GBM - Glioblastoma multiforme(43;0.0604) TTGCTGATTTCCTCCGGGTCT 0.458000 60 55 0 0 0.00361006 0 0 ZNF334 55713 broad.mit.edu 37 20 45130722 45130722 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr20:45130722G>A uc002xsa.3 - 3 1787 c.1325C>T c.(1324-1326)gCc>gTc p.A442V ZNF334_uc002xsb.3_Missense_Mutation_p.A381V|ZNF334_uc002xsd.3_Missense_Mutation_p.A381V|ZNF334_uc002xsc.3_Missense_Mutation_p.A419V|ZNF334_uc010ghl.3_Missense_Mutation_p.A418V Q9HCZ1 ZN334_HUMAN Homo sapiens zinc finger protein 334 (ZNF334), transcript variant 2, mRNA. 419 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 32 Myeloproliferative disorder(115;0.0122) CACATTGAGGGCAGATTGACA 0.423000 129 57 0 0 0.00361006 0 0 EHD1 10938 broad.mit.edu 37 11 64622318 64622318 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr11:64622318C>T uc010rnq.1 - 5 1181 c.1134G>A c.(1132-1134)caG>caA p.Q378Q EHD1_uc021qkz.1_Silent_p.Q47Q|EHD1_uc001obu.1_Silent_p.Q364Q|EHD1_uc001obv.1_Silent_p.Q364Q NM_006795 NP_006786 Q9H4M9 EHD1_HUMAN Homo sapiens EH-domain containing 1 (EHD1), mRNA. 364 blood coagulation|cholesterol homeostasis|endocytic recycling|intracellular protein transport|low-density lipoprotein particle clearance|positive regulation of cholesterol storage|protein homooligomerization early endosome membrane|lipid particle|plasma membrane|platelet dense tubular network membrane|recycling endosome membrane ATP binding|GTP binding|GTPase activity|calcium ion binding|protein binding breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1) 12 AGTCCTGGGTCTGCAGGAGTT 0.627000 155 60 0 0 0.00361006 0 0 TRIM56 81844 broad.mit.edu 37 7 100732634 100732634 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr7:100732634C>T uc003uxq.3 + 2 2272 c.2041C>T c.(2041-2043)Ccg>Tcg p.P681S TRIM56_uc003uxr.3_Intron|TRIM56_uc022aiw.1_Missense_Mutation_p.P681S NM_030961 NP_112223 Q9BRZ2 TRI56_HUMAN Homo sapiens tripartite motif containing 56 (TRIM56), mRNA. 681 defense response to virus|interferon-beta production|protein K63-linked ubiquitination|response to type I interferon cytoplasm ubiquitin-protein ligase activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 Lung NSC(181;0.136)|all_lung(186;0.182) TGGCTGCCAGCCGGGCTCCGT 0.587000 33 91 0 0 0.00361006 0 0 ATXN1 6310 broad.mit.edu 37 6 16326638 16326638 + Missense_Mutation SNP T C C TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr6:16326638T>C uc003nbt.3 - 7 2875 c.1904A>G c.(1903-1905)gAg>gGg p.E635G ATXN1_uc010jpi.3_Missense_Mutation_p.E635G|ATXN1_uc010jpj.1_Intron NM_000332 NP_001121636 P54253 ATX1_HUMAN Homo sapiens ataxin 1 (ATXN1), transcript variant 1, mRNA. 635 AXH.|Interaction with USP7.|RNA-binding. RNA processing|cell death|negative regulation of transcription, DNA-dependent|nuclear export cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein C-terminus binding|protein binding|protein self-association NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2) 44 Breast(50;0.063)|Ovarian(93;0.0733) all_hematologic(90;0.000682)|Ovarian(999;0.00973) GGCTCGGTGCTCCCCGACGGC 0.577000 51 27 0 0 0.00209593 0 0 abParts 0 broad.mit.edu 37 14 106641620 106641620 + RNA SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr14:106641620G>A uc021ser.1 - 1493 c.29765C>T Parts of antibodies, mostly variable regions. GCTCCATGTAGGCTGTGCTCG 0.527000 147 45 0 0 0.00361006 0 0 TRPM2 7226 broad.mit.edu 37 21 45786723 45786723 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr21:45786723G>A uc010gpt.1 + 3 610 c.510G>A c.(508-510)ttG>ttA p.L170L TRPM2_uc002zet.1_Silent_p.L170L|TRPM2_uc002zeu.1_Silent_p.L170L|TRPM2_uc021wjr.1_Non-coding_Transcript|TRPM2_uc002zew.1_Silent_p.L170L|TRPM2_uc002zex.1_5'Flank NM_003307 NP_003298 O94759 TRPM2_HUMAN Homo sapiens transient receptor potential cation channel, subfamily M, member 2 (TRPM2), transcript variant 1, mRNA. 170 integral to plasma membrane ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 76 CCAATCTCTTGATCTCGGTGA 0.602000 44 33 0 0 0.00375469 0 0 SGK223 157285 broad.mit.edu 37 8 8176519 8176519 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr8:8176519G>A uc003wsh.4 - 4 3366 c.3366C>T c.(3364-3366)ttC>ttT p.F1122F NM_001080826 NP_001074295 Q86YV5 SG223_HUMAN Homo sapiens homolog of rat pragma of Rnd2 (SGK223), mRNA. 1122 Protein kinase. ATP binding|non-membrane spanning protein tyrosine kinase activity GCAGAAGCAGGAAGCACACGC 0.672000 62 78 0 0 0.00361006 0 0 C4B 721 broad.mit.edu 37 6 31996295 31996295 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr6:31996295G>A uc011dpd.2 + 24 3267 c.3216G>A c.(3214-3216)cgG>cgA p.R1072R C4B_uc011dpe.2_Silent_p.R1072R NM_001242823 NP_001229752 P0C0L5 CO4B_HUMAN Homo sapiens complement C4-B-like (LOC100293534), mRNA. 1072 complement activation, classical pathway|inflammatory response|innate immune response extracellular space endopeptidase inhibitor activity GGTTGTCACGGGGCAGCAGCA 0.627000 38 38 0 0 0.00285205 0 0 C17orf47 284083 broad.mit.edu 37 17 56620146 56620146 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr17:56620146G>A uc002iwq.2 - 0 1588 c.1402C>T c.(1402-1404)Cct>Tct p.P468S SEPT4_uc010wny.2_5'Flank|SEPT4_uc010wnx.2_5'Flank NM_001038704 NP_001033793 Q8NEP4 CQ047_HUMAN Homo sapiens chromosome 17 open reading frame 47 (C17orf47), mRNA. 468 NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1) 24 Medulloblastoma(34;0.127)|all_neural(34;0.237) TCACAGAAAGGGCTAGAGTCT 0.478000 178 74 0 0 0.00361006 0 0 COL6A3 1293 broad.mit.edu 37 2 238275834 238275834 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:238275834C>T uc002vwl.2 - 10 5281 c.4996G>A c.(4996-4998)Gtg>Atg p.V1666M COL6A3_uc002vwo.2_Missense_Mutation_p.V1460M|COL6A3_uc010znj.1_Missense_Mutation_p.V1059M NM_004369 NP_004360 P12111 CO6A3_HUMAN Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA. 1666 Nonhelical region.|VWFA 9. axon guidance|cell adhesion|muscle organ development collagen type VI|extracellular space serine-type endopeptidase inhibitor activity breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4) 217 Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203) Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034) ACTGTGTCCACTATTTCAGAC 0.463000 26 9 0 0 0.000673444 0 0 FBN3 84467 broad.mit.edu 37 19 8154839 8154839 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:8154839G>A uc002mjf.3 - 48 6206 c.6189C>T c.(6187-6189)gcC>gcT p.A2063A FBN3_uc002mje.3_5'UTR NM_032447 NP_115823 Q75N90 FBN3_HUMAN Homo sapiens fibrillin 3 (FBN3), mRNA. 2063 TB 8. proteinaceous extracellular matrix calcium ion binding|extracellular matrix structural constituent p.A2062T(1) 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 GCTCCTGAAAGGCAGCTGGAC 0.637000 22 6 0 0 0.00116845 0 0 PITX2 5308 broad.mit.edu 37 4 111539383 111539383 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr4:111539383C>T uc003iaf.3 - 6 2675 c.852G>A c.(850-852)ctG>ctA p.L284L PITX2_uc003iac.3_Silent_p.L291L|PITX2_uc003iad.3_Silent_p.L284L|PITX2_uc021xqr.1_Silent_p.L284L|PITX2_uc003iae.3_Silent_p.L238L|PITX2_uc021xqs.1_Silent_p.L238L NM_001204397 NP_001191326 Q99697 PITX2_HUMAN Homo sapiens paired-like homeodomain 2 (PITX2), transcript variant 4, mRNA. 284 determination of left/right symmetry|organ morphogenesis transcription factor complex sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding p.T283M(1) breast(1)|endometrium(3)|large_intestine(1)|lung(5) 10 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.00222) CTTTCAGTCTCAGGCTGGCCA 0.622000 19 16 0 0 0.00316338 0 0 ABCC6 368 broad.mit.edu 37 16 16284023 16284023 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr16:16284023G>A uc002den.4 - 11 1670 c.1633C>T c.(1633-1635)Ctg>Ttg p.L545L ABCC6_uc010bvo.3_Non-coding_Transcript|ABCC6_uc010uzz.1_Silent_p.L557L NM_001171 NP_001162 O95255 MRP6_HUMAN Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 6 (ABCC6), transcript variant 1, mRNA. 545 ABC transmembrane type-1 1. response to drug|visual perception integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1) 43 UCEC - Uterine corpus endometrioid carcinoma (3;0.123) GACGTCACCAGAAATGTAGAC 0.632000 31 19 0 0 0.00229938 0 0 CCNY 219771 broad.mit.edu 37 10 35857996 35857996 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr10:35857996C>T uc001iyw.4 + 9 1104 c.924C>T c.(922-924)ctC>ctT p.L308L CCNY_uc001iyu.4_Silent_p.L254L|CCNY_uc001iyv.4_Silent_p.L254L|CCNY_uc001iyx.4_Silent_p.L254L|CCNY_uc009xmb.3_Silent_p.L283L|CCNY_uc010qet.2_Silent_p.L175L NM_145012 NP_859049 Q8ND76 CCNY_HUMAN Homo sapiens cyclin Y (CCNY), transcript variant 1, mRNA. 308 G2/M transition of mitotic cell cycle|Wnt receptor signaling pathway|cell division|positive regulation of cyclin-dependent protein kinase activity|regulation of canonical Wnt receptor signaling pathway cytoplasmic cyclin-dependent protein kinase holoenzyme complex|nucleus|plasma membrane cyclin-dependent protein kinase regulator activity|protein kinase binding cervix(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1) 8 TCTCTCGCCTCTGCGAGGACA 0.612000 13 21 0 0 0.00121646 0 0 MAGEC1 9947 broad.mit.edu 37 X 140995998 140995998 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chrX:140995998G>A uc004fbt.3 + 3 3132 c.2808G>A c.(2806-2808)acG>acA p.T936T MAGEC1_uc010nsl.2_Silent_p.T3T|MAGEC1_uc022cfi.1_Silent_p.T595T NM_005462 NP_005453 O60732 MAGC1_HUMAN Homo sapiens melanoma antigen family C, 1 (MAGEC1), mRNA. 936 MAGE. protein binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1) 127 Acute lymphoblastic leukemia(192;6.56e-05) AGATGCTGACGAATGTCATCA 0.468000 HNSCC(15;0.026) 12 60 0 0 0.00361006 0 0 TMCO7 79613 broad.mit.edu 37 16 68934380 68934380 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr16:68934380C>T uc002ewi.4 + 7 1433 c.1421C>T c.(1420-1422)tCc>tTc p.S474F NM_024562 NP_078838 Q9C0B7 TMCO7_HUMAN Homo sapiens transmembrane and coiled-coil domains 7 (TMCO7), mRNA. 474 integral to membrane binding endometrium(4)|kidney(2)|large_intestine(1)|lung(11)|prostate(2) 20 Ovarian(137;0.0568) OV - Ovarian serous cystadenocarcinoma(108;0.0446)|Epithelial(162;0.198) TTGATGGATTCCCTGCTTCCA 0.428000 41 82 0 0 0.00361006 0 0 NRXN2 9379 broad.mit.edu 37 11 64428249 64428249 + Missense_Mutation SNP A T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr11:64428249A>T uc021qkw.1 - 9 2623 c.2161T>A c.(2161-2163)Ttt>Att p.F721I NRXN2_uc021qkx.1_Missense_Mutation_p.F690I|NRXN2_uc001oas.3_Missense_Mutation_p.F690I|NRXN2_uc001oaq.3_Missense_Mutation_p.F388I NM_015080 NP_055895 Q9P2S2 NRX2A_HUMAN Homo sapiens neurexin 2 (NRXN2), transcript variant alpha-1, mRNA. 721 EGF-like 2. cell adhesion integral to membrane metal ion binding breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1) 71 CGCCCAAGAAAGCCGGTCCCG 0.602000 50 13 0 0 0.00244969 0 0 MUC16 94025 broad.mit.edu 37 19 9086175 9086175 + Missense_Mutation SNP A T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:9086175A>T uc002mkp.3 - 0 5844 c.5640T>A c.(5638-5640)gaT>gaA p.D1880E NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 1880 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 TAGAAGAGGTATCAGAGCCGT 0.502000 12 22 0 0 0.00278032 0 0 NBPF14 25832 broad.mit.edu 37 1 148009508 148009509 + Missense_Mutation DNP CC AA AA rs143363070 by1000genomes TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:148009508_148009509CC>AA uc001eqq.3 - 15 1830_1831 c.1798_1799GG>TT c.(1798-1800)ggg>TTg p.G600L NBPF14_uc001eqe.3_Intron|NBPF14_uc001eqf.3_Intron|NBPF14_uc001eqg.3_Intron|FLJ39739_uc001eqo.1_Intron|NBPF14_uc021ovz.1_Intron|NBPF14_uc021owa.1_Missense_Mutation_p.G581L|NBPF14_uc021owb.1_Intron|NBPF14_uc021owc.1_Intron|NBPF14_uc010pad.1_Intron NM_015383 NP_056198 Q5TI25 NBPFE_HUMAN Homo sapiens neuroblastoma breakpoint family, member 14 (NBPF14), mRNA. 600 NBPF 7. cytoplasm p.G600R(2)|p.S599S(1) NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(23)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1) 42 all_hematologic(923;0.032) CAACAGCTCCCCGCTGAGCCTG 0.465000 511 12 0 0 6.4e-05 0 0 CCDC113 29070 broad.mit.edu 37 16 58287928 58287928 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr16:58287928C>T uc002ene.3 + 2 334 c.255C>T c.(253-255)tcC>tcT p.S85S CCDC113_uc010vid.2_Intron NM_014157 NP_054876 Q9H0I3 CC113_HUMAN Homo sapiens coiled-coil domain containing 113 (CCDC113), transcript variant 1, mRNA. 85 protein complex large_intestine(4)|lung(6)|ovary(1)|urinary_tract(1) 12 GATCCAAATCCCGGACAGGTA 0.488000 31 33 0 0 0.000953801 0 0 CHST9 83539 broad.mit.edu 37 18 24496436 24496436 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr18:24496436C>T uc002kwd.3 - 4 1348 c.1119G>A c.(1117-1119)ttG>ttA p.L373L CHST9-AS1_uc002kwb.2_Intron|CHST9-AS1_uc010xbm.2_Intron|CHST9_uc002kwe.3_Silent_p.L373L|CHST9_uc021uij.1_Silent_p.L288L NM_001243848 NP_001230777 Q7L1S5 CHST9_HUMAN Homo sapiens carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 9 (CHST9), transcript variant 2, mRNA. 373 carbohydrate biosynthetic process|glycosaminoglycan metabolic process|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process Golgi membrane|extracellular region|integral to membrane N-acetylgalactosamine 4-O-sulfotransferase activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|skin(3) 28 all_lung(6;0.0145)|Ovarian(20;0.124) CATCTTCTTCCAAAGTCTCAA 0.423000 63 41 0 0 0.00195071 0 0 TPTE2 93492 broad.mit.edu 37 13 20025334 20025334 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr13:20025334C>T uc001umd.3 - 11 984 c.773G>A c.(772-774)cGa>cAa p.R258Q TPTE2_uc009zzk.3_Non-coding_Transcript|TPTE2_uc009zzl.3_Missense_Mutation_p.R147Q|TPTE2_uc001ume.3_Missense_Mutation_p.R181Q|TPTE2_uc009zzm.3_Intron|TPTE2_uc010tcm.2_Non-coding_Transcript NM_199254 NP_954863 Q6XPS3 TPTE2_HUMAN Homo sapiens transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 (TPTE2), transcript variant 3, mRNA. 258 Phosphatase tensin-type. endoplasmic reticulum membrane|integral to membrane ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity p.R181Q(2)|p.L258L(1) NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089) ATAGTGGTTTCGATGTTTCTT 0.363000 22 25 0 0 0.001512 0 0 SLC16A14 151473 broad.mit.edu 37 2 230911275 230911275 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:230911275C>T uc002vqd.2 - 3 1026 c.567G>A c.(565-567)agG>agA p.R189R FBXO36_uc010fxi.1_Intron|SLC16A14_uc002vqe.3_Silent_p.R189R|SLC16A14_uc002vqf.3_Silent_p.R189R NM_152527 NP_689740 Q7RTX9 MOT14_HUMAN Homo sapiens solute carrier family 16, member 14 (monocarboxylic acid transporter 14) (SLC16A14), mRNA. 189 integral to membrane|plasma membrane symporter activity p.R189G(1) NS(1)|cervix(1)|endometrium(7)|large_intestine(7)|lung(3)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.149)|Acute lymphoblastic leukemia(138;0.164) Epithelial(121;7.31e-13)|all cancers(144;5.1e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00948) ACATGGCATTCCTCCAGCCGT 0.592000 70 49 0 0 0.00361006 0 0 RABEP2 79874 broad.mit.edu 37 16 28925884 28925884 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr16:28925884G>A uc002drq.3 - 4 615 c.567C>T c.(565-567)tcC>tcT p.S189S NPIPL1_uc010vct.2_Intron|RABEP2_uc010vdf.2_Silent_p.S118S|RABEP2_uc010byn.3_Silent_p.S189S|RABEP2_uc002drr.3_Silent_p.S189S NM_024816 NP_079092 Q9H5N1 RABE2_HUMAN Homo sapiens rabaptin, RAB GTPase binding effector protein 2 (RABEP2), mRNA. 189 endocytosis|protein transport early endosome GTPase activator activity|growth factor activity breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1) 16 AGCCGTGCAGGGAAGGGGCAT 0.721000 9 10 0 0 0.00136819 0 0 CNTN1 1272 broad.mit.edu 37 12 41463829 41463829 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr12:41463829G>A uc001rmm.1 + 23 3162 c.3049G>A c.(3049-3051)Gaa>Aaa p.E1017K CNTN1_uc001rmn.1_Missense_Mutation_p.E1006K NM_001843 NP_001834 Q12860 CNTN1_HUMAN Homo sapiens contactin 1 (CNTN1), transcript variant 1, mRNA. 1017 Notch signaling pathway|axon guidance|cell adhesion anchored to membrane|membrane fraction|plasma membrane central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 90 all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716) Lung NSC(34;0.0211)|all_lung(34;0.0294) TGTCTACTTGGAATTCTGAAT 0.498000 28 31 0 0 0.00128727 0 0 SLC28A2 9153 broad.mit.edu 37 15 45559976 45559976 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr15:45559976G>A uc001zva.2 + 11 1246 c.1181G>A c.(1180-1182)gGg>gAg p.G394E NM_004212 NP_004203 O43868 S28A2_HUMAN Homo sapiens solute carrier family 28 (sodium-coupled nucleoside transporter), member 2 (SLC28A2), mRNA. 394 nucleobase, nucleoside and nucleotide metabolic process integral to plasma membrane|membrane fraction nucleoside binding|nucleoside:sodium symporter activity|purine nucleoside transmembrane transporter activity NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(4)|skin(1) 26 all_cancers(109;8.53e-07)|all_epithelial(112;1.39e-05)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417) all cancers(107;3.77e-16)|GBM - Glioblastoma multiforme(94;2.71e-06) AGTGAGGAGGGGGTAAAGCTG 0.547000 113 78 0 0 0.00361006 0 0 PTCH2 8643 broad.mit.edu 37 1 45288151 45288151 + Nonsense_Mutation SNP C T T rs56024410 TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:45288151C>T uc010olf.2 - 21 3560 c.3548G>A c.(3547-3549)tGg>tAg p.W1183* PTCH2_uc021omv.1_Intron|PTCH2_uc010olg.2_Nonsense_Mutation_p.W881* NM_003738 NP_003729 Q9Y6C5 PTC2_HUMAN Homo sapiens patched 2 (PTCH2), transcript variant 1, mRNA. 1183 protein complex assembly|spermatogenesis integral to plasma membrane hedgehog receptor activity NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 50 Acute lymphoblastic leukemia(166;0.155) AGCAGGGGACCAAGGGGGCTC 0.632000 Basal Cell Nevus syndrome 52 12 0 0 0.000978159 0 0 GAL3ST3 89792 broad.mit.edu 37 11 65811014 65811014 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr11:65811014G>A uc001ogv.3 - 1 420 c.260C>T c.(259-261)gCc>gTc p.A87V GAL3ST3_uc001ogw.3_Missense_Mutation_p.A87V NM_033036 NP_149025 Q96A11 G3ST3_HUMAN Homo sapiens galactose-3-O-sulfotransferase 3 (GAL3ST3), mRNA. 87 monosaccharide metabolic process|oligosaccharide metabolic process|poly-N-acetyllactosamine metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process Golgi cisterna membrane|integral to membrane 3'-phosphoadenosine 5'-phosphosulfate binding|carbohydrate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity kidney(1)|lung(9)|ovary(2)|skin(2) 14 GTGGCGCTCGGCAAAGCGAAA 0.657000 24 9 0 0 0.000274275 0 0 BTN1A1 696 broad.mit.edu 37 6 26505394 26505394 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr6:26505394C>T uc003nif.4 + 2 726 c.669C>T c.(667-669)ctC>ctT p.L223L NM_001732 NP_001723 Q13410 BT1A1_HUMAN Homo sapiens butyrophilin, subfamily 1, member A1 (BTN1A1), mRNA. 223 Ig-like V-type 2. extracellular region|integral to plasma membrane receptor activity endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(1) 26 TCCAGAATCTCCTTCTTGGCC 0.463000 66 41 0 0 0.00285205 0 0 CD163L1 283316 broad.mit.edu 37 12 7586219 7586219 + Nonsense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr12:7586219G>A uc010sge.2 - 2 222 c.196C>T c.(196-198)Cag>Tag p.Q66* CD163L1_uc001qsy.3_Nonsense_Mutation_p.Q66* NM_174941 NP_777601 Q9NR16 C163B_HUMAN Homo sapiens CD163 molecule-like 1 (CD163L1), mRNA. 66 SRCR 1. extracellular region|integral to membrane|plasma membrane scavenger receptor activity breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4) 96 CACTGTCCCTGGAATTTCACC 0.493000 73 28 0 0 0.00209593 0 0 ZMYM1 79830 broad.mit.edu 37 1 35563145 35563145 + Silent SNP A C C TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:35563145A>C uc001bym.3 + 3 543 c.397A>C c.(397-399)Aga>Cga p.R133R ZMYM1_uc001byl.1_Silent_p.R133R|ZMYM1_uc009vus.1_Non-coding_Transcript|ZMYM1_uc001byn.3_Silent_p.R133R|ZMYM1_uc010ohu.2_Silent_p.R133R|ZMYM1_uc001byo.3_5'UTR|ZMYM1_uc009vut.3_Silent_p.R58R NM_024772 NP_079048 Q5SVZ6 ZMYM1_HUMAN Homo sapiens zinc finger, MYM-type 1 (ZMYM1), mRNA. 133 nucleus nucleic acid binding|protein dimerization activity|zinc ion binding NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(8)|prostate(3)|skin(1)|upper_aerodigestive_tract(2) 31 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) TCCTTCTAAGAGAACTTGTTC 0.368000 90 16 0 0 0.000422831 0 0 FITM1 161247 broad.mit.edu 37 14 24601566 24601566 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr14:24601566C>T uc001wmf.2 + 1 511 c.413C>T c.(412-414)gCc>gTc p.A138V NM_203402 NP_981947 A5D6W6 FITM1_HUMAN Homo sapiens fat storage-inducing transmembrane protein 1 (FITM1), mRNA. 138 lipid particle organization|positive regulation of sequestering of triglyceride endoplasmic reticulum membrane|integral to membrane breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1) 11 TGGCGGGGAGCCGGCCGGGCC 0.672000 47 18 0 0 0.000958276 0 0 HTT 3064 broad.mit.edu 37 4 3189409 3189409 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr4:3189409C>T uc021xkv.1 + 38 5166 c.5021C>T c.(5020-5022)tCg>tTg p.S1674L NM_002111 NP_002102 P42858 HD_HUMAN Homo sapiens huntingtin (HTT), mRNA. 1674 Golgi organization|establishment of mitotic spindle orientation|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule Golgi apparatus|autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|late endosome|membrane fraction|nucleus|protein complex beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 87 all_epithelial(65;0.18) UCEC - Uterine corpus endometrioid carcinoma (64;0.187) CTGTGGATATCGGGAATTCTG 0.403000 61 45 0 0 0.00361006 0 0 OGDH 4967 broad.mit.edu 37 7 44714019 44714019 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr7:44714019G>A uc003tln.3 + 6 957 c.798G>A c.(796-798)gaG>gaA p.E266E OGDH_uc003tlm.3_Silent_p.E266E|OGDH_uc011kbx.2_Silent_p.E262E|OGDH_uc011kby.2_Silent_p.E116E|OGDH_uc003tlp.3_Silent_p.E277E|OGDH_uc011kbz.2_Silent_p.E61E|OGDH_uc003tlo.1_Silent_p.E99E NM_002541 NP_002532 Q02218 ODO1_HUMAN Homo sapiens oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide) (OGDH), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 266 glycolysis|lysine catabolic process|tricarboxylic acid cycle mitochondrial matrix|mitochondrial membrane oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4) 36 NADH(DB00157) GGTTTGAGGAGTTCCTACAGC 0.537000 51 54 0 0 0.00361006 0 0 OR52K1 390036 broad.mit.edu 37 11 4510609 4510609 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr11:4510609C>T uc001lza.2 + 0 501 c.479C>T c.(478-480)cCa>cTa p.P160L NM_001005171 NP_001005171 Q8NGK4 O52K1_HUMAN Homo sapiens olfactory receptor, family 52, subfamily K, member 1 (OR52K1), mRNA. 160 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(18)|skin(2)|stomach(1) 32 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;1.76e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0836)|LUSC - Lung squamous cell carcinoma(625;0.192) CTAATGACTCCACTCCCCTTC 0.587000 24 20 0 0 0.00152264 0 0 DPY19L4 286148 broad.mit.edu 37 8 95778881 95778881 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr8:95778881C>T uc003ygx.2 + 10 1267 c.1143C>T c.(1141-1143)ttC>ttT p.F381F NM_181787 NP_861452 Q7Z388 D19L4_HUMAN Homo sapiens dpy-19-like 4 (C. elegans) (DPY19L4), mRNA. 381 integral to membrane breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2) 21 Breast(36;3.85e-06) TGCTGAAATTCCTTGAAGTAA 0.303000 214 186 0 0 0.00361006 0 0 FLJ43860 389690 broad.mit.edu 37 8 142505528 142505528 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr8:142505528C>T uc003ywi.2 - 2 399 c.318G>A c.(316-318)aaG>aaA p.K106K FLJ43860_uc011ljs.1_5'Flank|FLJ43860_uc010meu.1_5'Flank NM_207414 NP_997297 Q6ZUA9 Q6ZUA9_HUMAN Homo sapiens FLJ43860 protein (FLJ43860), mRNA. 106 binding all_cancers(97;7.79e-15)|all_epithelial(106;4.52e-13)|Lung NSC(106;2.07e-05)|all_lung(105;2.89e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0493) TGATGATGTACTTCAAGTGGA 0.522000 87 49 0 0 0.00361006 0 0 ZNF334 55713 broad.mit.edu 37 20 45130524 45130524 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr20:45130524C>T uc002xsa.3 - 3 1985 c.1523G>A c.(1522-1524)gGa>gAa p.G508E ZNF334_uc002xsb.3_Missense_Mutation_p.G447E|ZNF334_uc002xsd.3_Missense_Mutation_p.G447E|ZNF334_uc002xsc.3_Missense_Mutation_p.G485E|ZNF334_uc010ghl.3_Missense_Mutation_p.G484E Q9HCZ1 ZN334_HUMAN Homo sapiens zinc finger protein 334 (ZNF334), transcript variant 2, mRNA. 485 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 32 Myeloproliferative disorder(115;0.0122) ATGTTTCTCTCCTGTGTGTGT 0.363000 158 41 0 0 0.00170553 0 0 PCLO 27445 broad.mit.edu 37 7 82476562 82476562 + Splice_Site SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr7:82476562C>T uc003uhx.2 - 11 13944 c.13655_splice c.e11-1 p.G4552_splice PCLO_uc003uhv.2_Splice_Site_p.G4552_splice|PCLO_uc003uht.1_Splice_Site_p.G3_splice|PCLO_uc003uhu.1_Splice_Site NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA. 4440 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 ATACTTGCATCCCTAGAAAGA 0.353000 6 20 0 0 0.00188189 0 0 CSF1R 1436 broad.mit.edu 37 5 149435634 149435634 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr5:149435634C>T uc003lrl.3 - 17 2704 c.2509G>A c.(2509-2511)Gac>Aac p.D837N CSF1R_uc011dcd.2_Intron|CSF1R_uc010jhc.3_Non-coding_Transcript|CSF1R_uc003lrm.3_Missense_Mutation_p.D837N NM_005211 NP_005202 P07333 CSF1R_HUMAN Homo sapiens colony stimulating factor 1 receptor (CSF1R), mRNA. 837 Protein kinase. cell proliferation|multicellular organismal development|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane|receptor complex ATP binding|cytokine binding|macrophage colony-stimulating factor receptor activity|protein homodimerization activity NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3) 93 KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147) Imatinib(DB00619)|Sunitinib(DB01268) GACCAGACGTCGCTCTGAACC 0.612000 33 10 0 0 0.000442599 0 0 CCDC74A 90557 broad.mit.edu 37 2 132288190 132288190 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:132288190C>T uc002tta.3 + 2 386 c.334C>T c.(334-336)Ccc>Tcc p.P112S CCDC74A_uc002ttb.3_Intron|CCDC74A_uc021vpq.1_Missense_Mutation_p.P112S|CCDC74A_uc021vpr.1_Missense_Mutation_p.P154S NM_138770 NP_620125 Q96AQ1 CC74A_HUMAN Homo sapiens coiled-coil domain containing 74A (CCDC74A), mRNA. 112 endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 19 GGCCTCTGCTCCCTTGGGCGC 0.642000 29 18 0 0 0.00178596 0 0 RBM34 23029 broad.mit.edu 37 1 235316029 235316029 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:235316029G>A uc001hwn.3 - 4 880 c.649C>T c.(649-651)Cgt>Tgt p.R217C RBM34_uc001hwo.3_Non-coding_Transcript|RBM34_uc001hwp.3_Non-coding_Transcript|RBM34_uc010pxp.1_Missense_Mutation_p.R217C NM_015014 NP_055829 P42696 RBM34_HUMAN Homo sapiens RNA binding motif protein 34 (RBM34), transcript variant 1, mRNA. 217 RRM 1. nucleolus RNA binding|nucleotide binding central_nervous_system(1) 1 Ovarian(103;0.0398) all_cancers(173;0.177)|Prostate(94;0.0166) OV - Ovarian serous cystadenocarcinoma(106;5.43e-05)|Epithelial(3;0.000121) ACCAGAGAACGAAATCGTACA 0.299000 32 43 0 0 0.00361006 0 0 SPG11 80208 broad.mit.edu 37 15 44865754 44865754 + Nonsense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr15:44865754G>A uc001ztx.3 - 31 6227 c.6196C>T c.(6196-6198)Cag>Tag p.Q2066* SPG11_uc010bdw.3_Intron|SPG11_uc010ueh.2_Intron|SPG11_uc010uei.2_Nonsense_Mutation_p.Q2066*|SPG11_uc001zty.1_Nonsense_Mutation_p.Q795* NM_025137 NP_079413 Q96JI7 SPTCS_HUMAN Homo sapiens spastic paraplegia 11 (autosomal recessive) (SPG11), transcript variant 1, mRNA. 2066 cell death cytosol|integral to membrane|nucleus protein binding p.S2065P(1) autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 72 all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122) all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214) CCTGTTCCCTGTGATGAAGTA 0.527000 22 22 0 0 0.00188189 0 0 KCTD16 57528 broad.mit.edu 37 5 143853416 143853416 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr5:143853416G>A uc003lnm.1 + 3 1655 c.1026G>A c.(1024-1026)ctG>ctA p.L342L KCTD16_uc003lnn.1_Silent_p.L342L NM_020768 NP_065819 Q68DU8 KCD16_HUMAN Homo sapiens potassium channel tetramerisation domain containing 16 (KCTD16), mRNA. 342 cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex voltage-gated potassium channel activity large_intestine(5)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1) 21 all_hematologic(541;0.118) KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176) TCCAGACTCTGGACCGTCCCA 0.587000 48 23 0 0 0.000720815 0 0 GIMAP6 474344 broad.mit.edu 37 7 150325570 150325570 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr7:150325570C>T uc022apv.1 - 2 806 c.326G>A c.(325-327)aGg>aAg p.R109K GIMAP6_uc003whn.3_Missense_Mutation_p.R39K|GIMAP6_uc003whm.3_Intron NM_001244072 NP_001231001 Q6P9H5 GIMA6_HUMAN Homo sapiens GTPase, IMAP family member 6 (GIMAP6), transcript variant 2, mRNA. 39 GTP binding endometrium(4)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 29 OV - Ovarian serous cystadenocarcinoma(82;0.0145) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) CCTCAGTCTCCTTGGGGTCTT 0.517000 28 69 0 0 0.00361006 0 0 MYH1 4619 broad.mit.edu 37 17 10408556 10408556 + Nonsense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr17:10408556G>A uc002gmo.3 - 20 2453 c.2359C>T c.(2359-2361)Cag>Tag p.Q787* AK097500_uc002gml.1_Intron NM_005963 NP_005954 P12882 MYH1_HUMAN Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA. 787 IQ. muscle myosin complex|myofibril|myosin filament ATP binding|actin binding|calmodulin binding|motor activity NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5) 176 GTAATCAGCTGGGCCAGCTTC 0.438000 4 80 0 0 0.00361006 0 0 MPZ 4359 broad.mit.edu 37 1 161275690 161275690 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:161275690C>T uc001gaf.4 - 5 790 c.723G>A c.(721-723)ggG>ggA p.G241G NM_000530 NP_000521 P25189 MYP0_HUMAN Homo sapiens myelin protein zero (MPZ), mRNA. 241 synaptic transmission integral to plasma membrane structural molecule activity central_nervous_system(1)|large_intestine(2)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 10 all_cancers(52;6.96e-17)|all_hematologic(112;0.093) Breast(1374;0.181) BRCA - Breast invasive adenocarcinoma(70;0.00376) TGCGAGACTCCCCCAGCCCCT 0.607000 31 53 0 0 0.00361006 0 0 SLC16A7 9194 broad.mit.edu 37 12 60165124 60165124 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr12:60165124C>T uc001sqs.3 + 3 641 c.342C>T c.(340-342)ctC>ctT p.L114L SLC16A7_uc001sqt.3_Silent_p.L114L|SLC16A7_uc001squ.3_Silent_p.L114L|SLC16A7_uc009zqi.3_Silent_p.L15L|SLC16A7_uc010ssi.2_Silent_p.L15L NM_004731 NP_004722 O60669 MOT2_HUMAN Homo sapiens solute carrier family 16, member 7 (monocarboxylic acid transporter 2) (SLC16A7), mRNA. 114 integral to plasma membrane|membrane fraction pyruvate secondary active transmembrane transporter activity|secondary active monocarboxylate transmembrane transporter activity|symporter activity p.Y113fs*28(1) endometrium(1)|large_intestine(14)|liver(2)|lung(11)|ovary(1)|skin(1) 30 GBM - Glioblastoma multiforme(3;0.0303) Pyruvic acid(DB00119) AGCTGTACCTCACTATGGGAT 0.423000 112 34 0 0 0.00111076 0 0 CDKAL1 54901 broad.mit.edu 37 6 20546711 20546711 + Missense_Mutation SNP C A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr6:20546711C>A uc003ndd.2 + 2 297 c.130C>A c.(130-132)Caa>Aaa p.Q44K CDKAL1_uc003nde.2_Silent_p.P11P|CDKAL1_uc021ymk.1_Missense_Mutation_p.Q44K|CDKAL1_uc010jpo.1_Missense_Mutation_p.Q44K|CDKAL1_uc003ndb.1_Missense_Mutation_p.Q44K NM_017774 NP_060244 Q5VV42 CDKAL_HUMAN Homo sapiens CDK5 regulatory subunit associated protein 1-like 1 (CDKAL1), mRNA. 44 RNA modification integral to membrane 4 iron, 4 sulfur cluster binding|metal ion binding|transferase activity p.Q44K(2) breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|stomach(1) 29 all_epithelial(95;0.0708)|Breast(50;0.131)|Ovarian(93;0.227) OV - Ovarian serous cystadenocarcinoma(7;0.0241)|all cancers(50;0.123)|Epithelial(50;0.248) GCGAAATACCCAAAAATATTT 0.368000 387 13 1.15088e-07 3.3411e-07 0.000422831 1 0 HHLA2 11148 broad.mit.edu 37 3 108072538 108072538 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr3:108072538G>A uc003dwz.3 + 3 743 c.329G>A c.(328-330)aGa>aAa p.R110K HHLA2_uc011bhl.2_Missense_Mutation_p.R46K|HHLA2_uc010hpu.3_Missense_Mutation_p.R110K|HHLA2_uc003dwy.4_Missense_Mutation_p.R110K NM_007072 NP_009003 Q9UM44 HHLA2_HUMAN Homo sapiens HERV-H LTR-associating 2 (HHLA2), mRNA. 110 Ig-like V-type 1. integral to membrane endometrium(2)|large_intestine(1)|lung(14)|ovary(1) 18 TTTTTCAGAAGAGTAAGCCTT 0.423000 35 39 0 0 0.00222228 0 0 C8B 732 broad.mit.edu 37 1 57425832 57425832 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:57425832G>A uc001cyp.3 - 1 177 c.110C>T c.(109-111)tCc>tTc p.S37F C8B_uc010oon.2_5'UTR|C8B_uc010ooo.2_5'UTR NM_000066 NP_000057 P07358 CO8B_HUMAN Homo sapiens complement component 8, beta polypeptide (C8B), mRNA. 37 complement activation, alternative pathway|complement activation, classical pathway|cytolysis membrane attack complex breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1) 52 TGACCCAAAGGAATGTGGCCT 0.418000 78 17 0 0 0.00074312 0 0 OR5B12 390191 broad.mit.edu 37 11 58206865 58206865 + Missense_Mutation SNP T A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr11:58206865T>A uc010rkh.2 - 0 782 c.760A>T c.(760-762)Atc>Ttc p.I254F NM_001004733 NP_001004733 Q96R08 OR5BC_HUMAN Homo sapiens olfactory receptor, family 5, subfamily B, member 12 (OR5B12), mRNA. 254 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.G253R(1) large_intestine(6)|liver(1)|lung(28)|ovary(1)|prostate(3)|skin(1) 40 Esophageal squamous(5;0.0027) Breast(21;0.0778) TACATAAAGATTCCTGTCCCA 0.453000 15 27 0 0 0.001512 0 0 KCNA3 3738 broad.mit.edu 37 1 111216889 111216889 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:111216889G>A uc001dzv.1 - 0 767 c.543C>T c.(541-543)tcC>tcT p.S181S NM_002232 NP_002223 P22001 KCNA3_HUMAN Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 3 (KCNA3), mRNA. 181 voltage-gated potassium channel complex delayed rectifier potassium channel activity endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(7)|ovary(4)|pancreas(1)|prostate(3)|skin(1) 38 all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398) Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133) GGATCTCCTCGGAGAAAATGT 0.667000 108 24 0 0 0.000878237 0 0 EEFSEC 60678 broad.mit.edu 37 3 127980974 127980974 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr3:127980974C>T uc003eki.3 + 2 566 c.528C>T c.(526-528)ttC>ttT p.F176F NM_021937 NP_068756 P57772 SELB_HUMAN Homo sapiens eukaryotic elongation factor, selenocysteine-tRNA-specific (EEFSEC), mRNA. 176 cytoplasm|nucleus GTP binding|GTPase activity|translation elongation factor activity NS(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(10)|ovary(1) 25 ATTTCAGGTTCCGAGGTGCAC 0.542000 95 63 0 0 0.00361006 0 0 CBLN2 147381 broad.mit.edu 37 18 70205419 70205419 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr18:70205419G>A uc002lku.2 - 3 902 c.667C>T c.(667-669)Cct>Tct p.P223S CBLN2_uc002lkv.2_Missense_Mutation_p.P223S NM_182511 NP_872317 Q8IUK8 CBLN2_HUMAN Homo sapiens cerebellin 2 precursor (CBLN2), mRNA. 223 C1q. integral to membrane endometrium(2)|lung(15) 17 Esophageal squamous(42;0.131) GTTTATAGAGGAAACACCAAG 0.507000 27 16 0 0 0.000566183 0 0 VWA2 340706 broad.mit.edu 37 10 116049157 116049157 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr10:116049157G>A uc001lbl.1 + 11 2352 c.2031G>A c.(2029-2031)agG>agA p.R677R VWA2_uc001lbk.1_Silent_p.R677R|VWA2_uc009xyf.1_Silent_p.R373R NM_198496 NP_940898 Q5GFL6 VWA2_HUMAN Homo sapiens von Willebrand factor A domain containing 2 (VWA2), mRNA. 677 VWFA 3. extracellular region p.L675_R676insGGL(1) central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1) 26 Epithelial(162;0.036)|all cancers(201;0.0793) GTCTGCGGAGGCTTGCAGGTC 0.627000 4 31 0 0 0.000814825 0 0 SPANXC 64663 broad.mit.edu 37 X 140336564 140336564 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chrX:140336564C>T uc004fbk.3 - 0 83 c.27G>A c.(25-27)ggG>ggA p.G9G SPANXC_uc004fbl.3_Intron NM_022661 NP_073152 Q9NY87 SPNXC_HUMAN Homo sapiens SPANX family, member C (SPANXC), mRNA. 9 cytoplasm|nucleus p.G8S(1) large_intestine(2)|lung(3)|pancreas(1) 6 Acute lymphoblastic leukemia(192;7.65e-05) TCCTCTTCACCCCGCCGGCAC 0.493000 10 54 0 0 0.00361006 0 0 PXDN 7837 broad.mit.edu 37 2 1652195 1652195 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:1652195C>T uc002qxa.3 - 16 3421 c.3357G>A c.(3355-3357)agG>agA p.R1119R NM_012293 NP_036425 Q92626 PXDN_HUMAN Homo sapiens peroxidasin homolog (Drosophila) (PXDN), mRNA. 1119 extracellular matrix organization|hydrogen peroxide catabolic process|immune response endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 112 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716) all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228) CGAACAGCCCCCTGAGAAGCG 0.597000 25 13 0 0 0.00185496 0 0 SVEP1 79987 broad.mit.edu 37 9 113169739 113169739 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr9:113169739G>A uc010mtz.3 - 37 8478 c.8141C>T c.(8140-8142)tCa>tTa p.S2714L SVEP1_uc010mty.3_Missense_Mutation_p.S640L NM_153366 NP_699197 Q4LDE5 SVEP1_HUMAN Homo sapiens sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 (SVEP1), mRNA. 2714 Sushi 21. cell adhesion cytoplasm|extracellular region|membrane calcium ion binding NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4) 147 ACATTCAATTGAAATGCAGGA 0.463000 12 80 0 0 0.00361006 0 0 OR2M3 127062 broad.mit.edu 37 1 248366863 248366863 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:248366863C>T uc010pzg.2 + 0 494 c.494C>T c.(493-495)tCc>tTc p.S165F NM_001004689 NP_001004689 Q8NG83 OR2M3_HUMAN Homo sapiens olfactory receptor, family 2, subfamily M, member 3 (OR2M3), mRNA. 165 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.S165S(1) 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) GCAACATTTTCCTTCTCCTAC 0.433000 61 90 0 0 0.00361006 0 0 CXorf21 80231 broad.mit.edu 37 X 30578385 30578385 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chrX:30578385C>T uc022bui.1 - 0 88 c.88G>A c.(88-90)Gaa>Aaa p.E30K CXorf21_uc004dcg.2_Missense_Mutation_p.E30K NM_025159 NP_079435 Q9HAI6 CX021_HUMAN Homo sapiens chromosome X open reading frame 21 (CXorf21), mRNA. 30 kidney(1)|large_intestine(3)|lung(13)|ovary(1)|stomach(1)|urinary_tract(1) 20 TCTTCCTTTTCCCCAGCCACC 0.458000 0 26 0 0 0.00332997 0 0 TLR5 7100 broad.mit.edu 37 1 223283826 223283826 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:223283826G>A uc021pjl.1 - 0 2548 c.2548C>T c.(2548-2550)Ccg>Tcg p.P850S TLR5_uc001hnv.2_Missense_Mutation_p.P850S|TLR5_uc001hnw.2_Missense_Mutation_p.P850S NM_003268 NP_003259 O60602 TLR5_HUMAN Homo sapiens toll-like receptor 5 (TLR5), mRNA. 850 Missing (in 10% of the population; abolishes flagellin signaling; associated with resistance to SLEB1). MyD88-dependent toll-like receptor signaling pathway|cellular response to mechanical stimulus|inflammatory response|innate immune response|positive regulation of interleukin-8 production|positive regulation of toll-like receptor signaling pathway integral to membrane|plasma membrane interleukin-1 receptor binding|transmembrane receptor activity breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 32 GBM - Glioblastoma multiforme(131;0.0851) GTTTGCAACGGAATGTTATTG 0.378000 76 24 0 0 0.00178596 0 0 FAT4 79633 broad.mit.edu 37 4 126412574 126412574 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr4:126412574G>A uc003ifj.4 + 16 14597 c.14597G>A c.(14596-14598)aGa>aAa p.R4866K FAT4_uc011cgp.2_Missense_Mutation_p.R3107K|FAT4_uc003ifi.1_Missense_Mutation_p.R2343K NM_024582 NP_078858 Q6V0I7 FAT4_HUMAN Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA. 4866 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.G4865W(1) NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 TATACTTCCAGAATGCCCAAA 0.448000 19 19 0 0 0.000958276 0 0 CSMD1 64478 broad.mit.edu 37 8 3165994 3165994 + Silent SNP G T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr8:3165994G>T uc022aqr.1 - 23 4053 c.3663C>A c.(3661-3663)ggC>ggA p.G1221G CSMD1_uc011kwj.2_Silent_p.G614G|CSMD1_uc003wqe.3_Silent_p.G378G NM_033225 NP_150094 Q96PZ7 CSMD1_HUMAN Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA. 1222 Sushi 7. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) AGTTAGGGATGCCCGGATCCT 0.483000 13 4 1.024e-07 2.97404e-07 0.000602214 1 0 PLA2G4A 5321 broad.mit.edu 37 1 186880420 186880420 + Nonsense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:186880420C>T uc001gsc.3 + 6 662 c.457C>T c.(457-459)Cag>Tag p.Q153* PLA2G4A_uc010pos.2_Intron NM_024420 NP_077734 P47712 PA24A_HUMAN Homo sapiens phospholipase A2, group IVA (cytosolic, calcium-dependent) (PLA2G4A), mRNA. 153 PLA2c.|Phospholipid binding (Probable). phospholipid catabolic process|platelet activating factor biosynthetic process|platelet activation cytosol|endoplasmic reticulum membrane calcium ion binding|calcium-dependent phospholipid binding|lysophospholipase activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|prostate(3)|skin(4)|stomach(1) 53 Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Medrysone(DB00253)|Quinacrine(DB01103) TCTGTGTGATCAGGAGAAGAC 0.448000 46 55 0 0 0.00361006 0 0 TBC1D1 23216 broad.mit.edu 37 4 38051318 38051318 + Missense_Mutation SNP C T T rs150670938 TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr4:38051318C>T uc003gtb.3 + 10 2067 c.1709C>T c.(1708-1710)tCc>tTc p.S570F TBC1D1_uc011byd.2_Missense_Mutation_p.S570F|TBC1D1_uc010ifd.3_Missense_Mutation_p.S317F|TBC1D1_uc011byf.1_Missense_Mutation_p.S441F NM_015173 NP_055988 Q86TI0 TBCD1_HUMAN Homo sapiens TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1 (TBC1D1), transcript variant 1, mRNA. 570 nucleus Rab GTPase activator activity NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1) 36 GAGGACCTGTCCAGTGACTCG 0.592000 34 26 0 0 0.000878237 0 0 F2RL1 2150 broad.mit.edu 37 5 76128963 76128963 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr5:76128963C>T uc003keo.3 + 1 706 c.531C>T c.(529-531)atC>atT p.I177I NM_005242 NP_005233 P55085 PAR2_HUMAN Homo sapiens coagulation factor II (thrombin) receptor-like 1 (F2RL1), mRNA. 177 blood coagulation|elevation of cytosolic calcium ion concentration|positive regulation of leukocyte chemotaxis|positive regulation of positive chemotaxis|regulation of blood coagulation Golgi apparatus|integral to plasma membrane receptor binding|thrombin receptor activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1) 13 all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11) OV - Ovarian serous cystadenocarcinoma(54;7.7e-51)|Epithelial(54;2.77e-45)|all cancers(79;3.47e-41) ATTGGGTCATCGTGAACCCCA 0.483000 352 255 0 0 0.00361006 0 0 ASTN1 460 broad.mit.edu 37 1 176926840 176926840 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:176926840G>A uc001glc.3 - 10 2073 c.1861C>T c.(1861-1863)Cgc>Tgc p.R621C ASTN1_uc001glb.1_Missense_Mutation_p.R621C|ASTN1_uc001gld.1_Missense_Mutation_p.R621C|ASTN1_uc009wwx.1_Missense_Mutation_p.R621C NM_004319 NP_004310 O14525 ASTN1_HUMAN Homo sapiens astrotactin 1 (ASTN1), transcript variant 1, mRNA. 629 EGF-like 2. cell migration|neuron cell-cell adhesion integral to membrane NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3) 153 TCCAGCTTGCGATCTGAAATA 0.537000 16 31 0 0 0.00327116 0 0 PIDD 55367 broad.mit.edu 37 11 804257 804258 + Missense_Mutation DNP GG AA AA TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr11:804257_804258GG>AA uc001lro.2 - 1 278_279 c.131_132CC>TT c.(130-132)ccc>cTT p.P44L PIDD_uc009yck.1_5'Flank|PIDD_uc001lrl.1_5'UTR|PIDD_uc001lrm.1_5'UTR|PIDD_uc001lrn.2_5'UTR|PIDD_uc001lrk.2_Missense_Mutation_p.P44L|PIDD_uc001lrp.2_5'UTR NM_145886 NP_665893 Q9HB75 PIDD_HUMAN Homo sapiens p53-induced death domain protein (PIDD), transcript variant 1, mRNA. 44 apoptosis|signal transduction cytoplasm|nucleus death receptor binding GGCAGCCCCCGGGGTACAGGTC 0.653000 14 4 0 0 6.4e-05 0 0 CCDC146 57639 broad.mit.edu 37 7 76924180 76924180 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr7:76924180C>T uc003uga.3 + 18 2992 c.2865C>T c.(2863-2865)atC>atT p.I955I CCDC146_uc010ldp.3_Silent_p.I669I|CCDC146_uc003ugc.3_Silent_p.I292I NM_020879 NP_065930 Q8IYE0 CC146_HUMAN Homo sapiens coiled-coil domain containing 146 (CCDC146), mRNA. 955 breast(3)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(2) 34 all_cancers(73;0.128)|all_lung(88;0.0986)|all_epithelial(88;0.163)|Myeloproliferative disorder(862;0.205) CAGTTGAAATCTGAATATGTG 0.403000 27 12 0 0 0.00185496 0 0 ARSF 416 broad.mit.edu 37 X 3030285 3030285 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chrX:3030285C>T uc022brz.1 + 10 1597 c.1461C>T c.(1459-1461)gtC>gtT p.V487V ARSF_uc004cre.2_Silent_p.V487V|ARSF_uc004crf.2_Silent_p.V487V NM_001201538 NP_001188467 P54793 ARSF_HUMAN Homo sapiens arylsulfatase F (ARSF), transcript variant 2, mRNA. 487 extracellular region arylsulfatase activity|metal ion binding NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2) 38 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) GCTGCTATGTCACCTCATTAT 0.542000 3 43 0 0 0.00361006 0 0 MUC16 94025 broad.mit.edu 37 19 9069614 9069614 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:9069614G>A uc002mkp.3 - 2 18036 c.17832C>T c.(17830-17832)tcC>tcT p.S5944S NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 5946 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 CTGATACTGCGGAATAAAGAG 0.512000 20 45 0 0 0.0025221 0 0 PRSS3P2 154754 broad.mit.edu 37 7 142481149 142481149 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr7:142481149G>A uc011ksq.2 + 2 306 c.223G>A c.(223-225)Gag>Aag p.E75K TCRBV2S1_uc003vzp.2_Intron|TCRBV3S1_uc011ksh.2_Intron|TCRBV3S1_uc003vzw.2_Intron|TCRBV3S1_uc011ksi.2_Intron|TCRBV3S1_uc010loj.2_Intron|TCRBV3S1_uc003wag.2_Intron|BV6S4-BJ2S2_uc003wan.1_Intron|PRSS3P2_uc011ksr.1_Non-coding_Transcript Homo sapiens protease, serine, 3 pseudogene (TRY6), non-coding RNA. GAGACTGGGAGAGCACAATAT 0.532000 0 9 0 0 0.000274275 0 0 TDRD5 163589 broad.mit.edu 37 1 179562978 179562978 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:179562978G>A uc010pnp.2 + 2 1134 c.616G>A c.(616-618)Gaa>Aaa p.E206K TDRD5_uc021pfm.1_Missense_Mutation_p.E206K|TDRD5_uc001gnf.2_Missense_Mutation_p.E206K|TDRD5_uc021pfn.1_Missense_Mutation_p.E206K NM_001199085 NP_001186014 Q8NAT2 TDRD5_HUMAN Homo sapiens tudor domain containing 5 (TDRD5), transcript variant 1, mRNA. 206 Lotus/OST-HTH 2. DNA methylation involved in gamete generation|P granule organization|spermatid development chromatoid body|pi-body nucleic acid binding NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2) 77 TGTAACAGAGGAAAAGCCGAG 0.453000 36 12 0 0 0.00185496 0 0 ANKRD33 341405 broad.mit.edu 37 12 52284611 52284611 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr12:52284611C>T uc001rzd.3 + 4 1059 c.881C>T c.(880-882)cCc>cTc p.P294L ANKRD33_uc001rzh.4_3'UTR|ANKRD33_uc001rzf.4_Missense_Mutation_p.P169L|ANKRD33_uc001rze.3_Missense_Mutation_p.P190L|ANKRD33_uc001rzg.4_Missense_Mutation_p.P96L|ANKRD33_uc001rzi.4_Missense_Mutation_p.P169L NM_182608 NP_872414 Q7Z3H0 ANR33_HUMAN Homo sapiens ankyrin repeat domain 33 (ANKRD33), transcript variant 2, mRNA. 169 endometrium(2)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(1) 22 BRCA - Breast invasive adenocarcinoma(357;0.0969) TTGAGCCTCCCCTTTGCCCCG 0.672000 9 10 0 0 0.000673444 0 0 SLC45A3 85414 broad.mit.edu 37 1 205592869 205592869 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:205592869G>A uc001hcy.2 - 1 1392 c.142C>T c.(142-144)Cgc>Tgc p.R48C SLC45A3_uc021pid.1_Non-coding_Transcript|SLC45A3_uc001hcz.3_Missense_Mutation_p.R48C|SLC45A3_uc010prn.1_Missense_Mutation_p.R137C|SLC45A3_uc010pro.1_Missense_Mutation_p.R321C|SLC45A3_uc010prp.1_Non-coding_Transcript|SLC45A3_uc010prq.1_Non-coding_Transcript NM_001973 NP_001964 Q96JT2 S45A3_HUMAN Homo sapiens ELK4, ETS-domain protein (SRF accessory protein 1) (ELK4), transcript variant a, mRNA. 0 transmembrane transport integral to membrane SLC45A3/BRAF(2)|SLC45A3/ELK4(18)|SLC45A3/ETV1(3)|SLC45A3/ETV5_ENST00000306376(2)|SLC45A3/ERG(50) cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(7)|ovary(3)|prostate(5) 21 Breast(84;0.07) BRCA - Breast invasive adenocarcinoma(75;0.0194) TTGTTCTTGCGAATCCCCCAG 0.448000 T """ETV1, ETV5, ELK4, ERG""" prostate 68 102 0 0 0.00361006 0 0 TSGA10IP 254187 broad.mit.edu 37 11 65715116 65715116 + Nonsense_Mutation SNP A T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr11:65715116A>T uc001ogk.1 + 3 849 c.817A>T c.(817-819)Aag>Tag p.K273* TSGA10IP_uc009yqw.1_Non-coding_Transcript|TSGA10IP_uc009yqx.1_Intron NM_152762 NP_689975 Q3SY00 T10IP_HUMAN Homo sapiens testis specific, 10 interacting protein (TSGA10IP), mRNA. 274 endometrium(2)|kidney(3)|lung(9) 14 TTGTCAGAGAAAGGGGCAGAT 0.597000 9 15 0 0 0.00316338 0 0 SERPINA4 5267 broad.mit.edu 37 14 95030123 95030123 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr14:95030123C>T uc010avd.3 + 1 689 c.415C>T c.(415-417)Ctt>Ttt p.L139F SERPINA4_uc001ydk.3_Missense_Mutation_p.L102F|SERPINA4_uc001ydl.3_Missense_Mutation_p.L102F NM_006215 NP_006206 P29622 KAIN_HUMAN Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4 (SERPINA4), mRNA. 102 regulation of proteolysis extracellular space serine-type endopeptidase inhibitor activity p.R138G(1) breast(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(28)|ovary(3)|skin(1)|urinary_tract(1) 46 COAD - Colon adenocarcinoma(157;0.211) CAGCCAGATCCTTGAGGGCCT 0.632000 33 13 0 0 0.00185496 0 0 ASTN1 460 broad.mit.edu 37 1 177030324 177030324 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:177030324G>A uc001glc.3 - 1 573 c.361C>T c.(361-363)Cac>Tac p.H121Y ASTN1_uc001glb.1_Missense_Mutation_p.H121Y|ASTN1_uc001gld.1_Missense_Mutation_p.H121Y|ASTN1_uc009wwx.1_Missense_Mutation_p.H121Y NM_004319 NP_004310 O14525 ASTN1_HUMAN Homo sapiens astrotactin 1 (ASTN1), transcript variant 1, mRNA. 121 cell migration|neuron cell-cell adhesion integral to membrane NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3) 153 TGATGAATGTGAAAAAGCAAA 0.522000 129 43 0 0 0.00321405 0 0 PRAMEF4 400735 broad.mit.edu 37 1 12939636 12939636 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:12939636C>T uc001aun.2 - 3 1237 c.1166G>A c.(1165-1167)gGa>gAa p.G389E NM_001009611 NP_001009611 O60810 PRAM4_HUMAN Homo sapiens PRAME family member 4 (PRAMEF4), mRNA. 389 breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(3)|skin(1) 24 Ovarian(185;0.249) Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) GATGGGATTTCCACAGAAGCT 0.522000 29 222 0 0 0.00361006 0 0 SCAND3 114821 broad.mit.edu 37 6 28542663 28542663 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr6:28542663C>T uc003nlo.3 - 2 2437 c.1819G>A c.(1819-1821)Gaa>Aaa p.E607K NM_052923 NP_443155 Q6R2W3 SCND3_HUMAN Homo sapiens SCAN domain containing 3 (SCAND3), mRNA. 607 DNA integration|viral reproduction nucleus DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3) 71 CATTCTTTTTCACAAACTACA 0.418000 26 28 0 0 0.00127121 0 0 CENPF 1063 broad.mit.edu 37 1 214816005 214816005 + Missense_Mutation SNP T A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:214816005T>A uc001hkm.3 + 11 4498 c.4324T>A c.(4324-4326)Tta>Ata p.L1442I NM_016343 NP_057427 P49454 CENPF_HUMAN Homo sapiens centromere protein F, 350/400kDa (mitosin) (CENPF), mRNA. 1538 2 X 96 AA approximate tandem repeats. DNA replication|G2 phase of mitotic cell cycle|cell differentiation|cell division|cell proliferation|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1) 126 all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833) TGTTGACTCATTAAAGGCCGA 0.423000 13 25 0 0 0.00395357 0 0 HERC2P9 440248 broad.mit.edu 37 15 28903845 28903845 + RNA SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr15:28903845C>T uc010azc.3 + 4 c.777C>T HERC2P9_uc010uao.1_Non-coding_Transcript Homo sapiens hect domain and RLD 2 pseudogene 9 (HERC2P9), non-coding RNA. CGCTGTTCTCCCACCAGGATA 0.498000 32 43 0 0 0.00361006 0 0 TPH1 7166 broad.mit.edu 37 11 18062275 18062275 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr11:18062275G>A uc001mnp.2 - 0 61 c.35C>T c.(34-36)tCc>tTc p.S12F TPH1_uc009yhe.2_Non-coding_Transcript NM_004179 NP_004170 P17752 TPH1_HUMAN Homo sapiens tryptophan hydroxylase 1 (TPH1), mRNA. 12 aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process cytosol amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(14)|prostate(1)|stomach(1) 25 L-Tryptophan(DB00150)|Tetrahydrobiopterin(DB00360) CCTTTCTAAGGAATGGTCTTT 0.333000 36 7 0 0 0.00198382 0 0 NTRK3 4916 broad.mit.edu 37 15 88799275 88799275 + Missense_Mutation SNP A G G TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr15:88799275A>G uc002bme.2 - 2 416 c.110T>C c.(109-111)gTc>gCc p.V37A NTRK3_uc002bmh.2_Missense_Mutation_p.V37A|NTRK3_uc002bmf.2_Missense_Mutation_p.V37A|NTRK3_uc021sua.1_Missense_Mutation_p.V37A|NTRK3_uc010bnh.1_Missense_Mutation_p.V37A|NTRK3_uc002bmg.3_Missense_Mutation_p.V37A|LOC283738_uc021sub.1_Intron NM_001012338 NP_001012338 Q16288 NTRK3_HUMAN Homo sapiens neurotrophic tyrosine kinase, receptor, type 3 (NTRK3), transcript variant 1, mRNA. 37 transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity ETV6/NTRK3(238) breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2) 119 BRCA - Breast invasive adenocarcinoma(143;0.211) CTTGCTGCAGACACAATTTGC 0.572000 T ETV6 """congenital fibrosarcoma, Secretory breast """ TSP Lung(13;0.10) 107 11 0 0 0.00185496 0 0 FGFR1 2260 broad.mit.edu 37 8 38275752 38275752 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr8:38275752C>T uc022aua.1 - 9 2366 c.1424G>A c.(1423-1425)cGg>cAg p.R475Q FGFR1_uc010lwf.3_Non-coding_Transcript|FGFR1_uc011lbu.2_Missense_Mutation_p.R506Q|FGFR1_uc011lbv.2_Missense_Mutation_p.R473Q|FGFR1_uc011lbw.2_Missense_Mutation_p.R386Q|FGFR1_uc003xlp.3_Missense_Mutation_p.R473Q|FGFR1_uc022aub.1_Missense_Mutation_p.R473Q|FGFR1_uc022auc.1_Missense_Mutation_p.R386Q|FGFR1_uc022aud.1_Missense_Mutation_p.R384Q|FGFR1_uc010lwk.3_Missense_Mutation_p.R465Q NM_023110 NP_075598 P11362 FGFR1_HUMAN Homo sapiens fibroblast growth factor receptor 1 (FGFR1), transcript variant 1, mRNA. 475 MAPKKK cascade|axon guidance|cell growth|insulin receptor signaling pathway|positive regulation of cell proliferation|skeletal system development extracellular region|integral to plasma membrane|membrane fraction ATP binding|fibroblast growth factor receptor activity|heparin binding|protein homodimerization activity FGFR1/ZNF703(2) breast(2)|central_nervous_system(7)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2) 50 all_cancers(2;9.05e-47)|all_epithelial(2;2.64e-50)|all_lung(3;1.71e-23)|Lung NSC(2;3.61e-23)|Colorectal(12;0.000442) Breast(189;1.48e-05)|all_lung(54;0.00354)|Lung NSC(58;0.0138)|Hepatocellular(245;0.065) Epithelial(3;3.96e-34)|all cancers(3;3.06e-30)|BRCA - Breast invasive adenocarcinoma(5;2.28e-21)|COAD - Colon adenocarcinoma(9;0.24) Palifermin(DB00039) TTACCTGTCCCGAGGCAGCTC 0.532000 1 T """BCR, FOP, ZNF198, CEP1""" """MPD, NHL""" """Pfeiffer syndrome, Kallman syndrome""" 81 85 0 0 0.00361006 0 0 ART3 419 broad.mit.edu 37 4 77003040 77003040 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr4:77003040G>A uc003hjo.3 + 2 267 c.133G>A c.(133-135)Gac>Aac p.D45N ART3_uc003hji.3_Missense_Mutation_p.D45N|ART3_uc003hjj.3_Missense_Mutation_p.D45N|ART3_uc003hjk.3_Missense_Mutation_p.D45N|ART3_uc010ija.2_Missense_Mutation_p.D45N|ART3_uc003hjn.3_Missense_Mutation_p.D45N|ART3_uc003hjp.3_Intron|ART3_uc010ijb.3_Intron|ART3_uc003hjq.3_Intron|ART3_uc003hjr.3_Missense_Mutation_p.D15N|ART3_uc010ijc.3_Missense_Mutation_p.D15N|ART3_uc010ijd.3_Missense_Mutation_p.D15N NM_001130016 NP_001123488 Q13508 NAR3_HUMAN Homo sapiens ADP-ribosyltransferase 3 (ART3), transcript variant 1, mRNA. 45 protein ADP-ribosylation anchored to membrane|integral to plasma membrane NAD(P)+-protein-arginine ADP-ribosyltransferase activity|NAD+ ADP-ribosyltransferase activity autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|stomach(1) 16 Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934) GAAATGTACGGACAGGATGGA 0.388000 52 49 0 0 0.00361006 0 0 USP19 10869 broad.mit.edu 37 3 49154881 49154881 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr3:49154881G>A uc003cwd.2 - 4 914 c.595C>T c.(595-597)Ccc>Tcc p.P199S USP19_uc003cwa.3_Missense_Mutation_p.P5S|USP19_uc003cwb.3_Missense_Mutation_p.P184S|USP19_uc003cvz.4_Missense_Mutation_p.P199S|USP19_uc011bcg.2_Intron|USP19_uc003cwc.2_5'Flank|USP19_uc011bch.2_Missense_Mutation_p.P199S|USP19_uc011bci.2_Missense_Mutation_p.P184S NM_006677 NP_006668 O94966 UBP19_HUMAN Homo sapiens ubiquitin specific peptidase 19 (USP19), transcript variant 4, mRNA. 199 CS 1. ER-associated protein catabolic process|positive regulation of cell cycle process|protein deubiquitination|regulation of protein stability|response to endoplasmic reticulum stress|skeletal muscle atrophy endoplasmic reticulum membrane|integral to membrane ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 38 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) AGGAGGGAGGGCCACGTGAGC 0.522000 6 33 0 0 0.000814825 0 0 ZNF14 7561 broad.mit.edu 37 19 19823621 19823621 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:19823621G>A uc002nnk.1 - 3 623 c.469C>T c.(469-471)Cgc>Tgc p.R157C NM_021030 NP_066358 P17017 ZNF14_HUMAN Homo sapiens zinc finger protein 14 (ZNF14), mRNA. 157 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|cervix(2)|endometrium(1)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3) 32 Renal(1328;0.0474) TCATGTTTGCGAAAGCAGTGG 0.393000 42 17 0 0 0.000958276 0 0 PCDHGC5 56097 broad.mit.edu 37 5 140754309 140754309 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr5:140754309C>T uc003ljy.2 + 0 659 c.659C>T c.(658-660)cCt>cTt p.P220L PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc011dau.2_Missense_Mutation_p.P220L NM_018919 NP_061742 Q9Y5F6 PCDGM_HUMAN Homo sapiens protocadherin gamma subfamily A, 6 (PCDHGA6), transcript variant 1, mRNA. 220 Cadherin 2. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 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) GGCGGCGACCCTGTCCGCTCA 0.557000 12 6 0 0 0.00116845 0 0 PLEKHA7 144100 broad.mit.edu 37 11 16812687 16812687 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr11:16812687G>A uc010rcu.1 - 19 2823 c.2808C>T c.(2806-2808)ccC>ccT p.P936P PLEKHA7_uc001mmo.3_Silent_p.P935P|PLEKHA7_uc001mmm.3_Silent_p.P38P|PLEKHA7_uc010rcv.2_Silent_p.P510P|PLEKHA7_uc001mmn.3_Silent_p.P644P NM_175058 NP_778228 Q6IQ23 PKHA7_HUMAN Homo sapiens pleckstrin homology domain containing, family A member 7 (PLEKHA7), mRNA. 935 Pro-rich. 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 GCACAGCCGGGGGCTGGTCCT 0.642000 32 14 0 0 0.00074312 0 0 RGNEF 64283 broad.mit.edu 37 5 72980679 72980679 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr5:72980679G>A uc010izf.3 + 1 179 c.3G>A c.(1-3)atG>atA p.M1I RGNEF_uc011csq.2_Missense_Mutation_p.M1I|RGNEF_uc003kcy.1_Missense_Mutation_p.M1I|RGNEF_uc021yam.1_Missense_Mutation_p.M1I NM_001080479 NP_001073948 Q8N1W1 RGNEF_HUMAN Homo sapiens 190 kDa guanine nucleotide exchange factor (RGNEF), transcript variant 1, mRNA. 1 cell differentiation|intracellular signal transduction|regulation of Rho protein signal transduction cytoplasm|plasma membrane RNA binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding Lung NSC(167;0.0378)|all_lung(232;0.04)|Ovarian(174;0.0798) OV - Ovarian serous cystadenocarcinoma(47;1.25e-51) CGAAAGCCATGGAGTTGAGCT 0.483000 42 23 0 0 0.00278032 0 0 CACNA1D 776 broad.mit.edu 37 3 53760973 53760973 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr3:53760973C>T uc003dgv.4 + 14 2331 c.2168C>T c.(2167-2169)tCt>tTt p.S723F CACNA1D_uc003dgu.4_Missense_Mutation_p.S743F|CACNA1D_uc003dgy.4_Missense_Mutation_p.S723F|CACNA1D_uc003dgw.4_Missense_Mutation_p.S390F NM_001128840 NP_001122312 Q01668 CAC1D_HUMAN Homo sapiens calcium channel, voltage-dependent, L type, alpha 1D subunit (CACNA1D), transcript variant 2, mRNA. 723 axon guidance|energy reserve metabolic process|regulation of insulin secretion voltage-gated calcium channel complex voltage-gated calcium channel activity breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 90 BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613) Verapamil(DB00661) GGCCCATCCTCTTCAGGAATG 0.502000 17 105 0 0 0.00361006 0 0 SDHA 6389 broad.mit.edu 37 5 224491 224491 + Missense_Mutation SNP C A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr5:224491C>A uc011clv.1 + 2 282 c.167C>A c.(166-168)cCa>cAa p.P56Q SDHA_uc003jao.4_Missense_Mutation_p.P56Q|SDHA_uc011clw.2_Missense_Mutation_p.P56Q NM_004168 NP_004159 P31040 DHSA_HUMAN Homo sapiens succinate dehydrogenase complex, subunit A, flavoprotein (Fp) (SDHA), nuclear gene encoding mitochondrial protein, mRNA. 56 nervous system development|respiratory electron transport chain|succinate metabolic process|transport|tricarboxylic acid cycle mitochondrial respiratory chain complex II electron carrier activity|flavin adenine dinucleotide binding|protein binding|succinate dehydrogenase (ubiquinone) activity NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|liver(2)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 40 Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113) Succinic acid(DB00139) GCTCAGTATCCAGTAGTGGAT 0.453000 Familial Paragangliomas 295 13 0.00244969 0.00704821 0.00244969 1 0 NDUFB9 4715 broad.mit.edu 37 8 125551344 125551344 + Splice_Site SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr8:125551344C>T uc011lim.1 + 1 1 c.-84_splice c.e1-1 TATDN1_uc003yre.2_5'Flank|TATDN1_uc003yrd.2_5'Flank|TATDN1_uc010mdm.2_5'Flank|NDUFB9_uc003yrg.4_Splice_Site NM_005005 NP_004996 Q9Y6M9 NDUB9_HUMAN Homo sapiens NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 9, 22kDa (NDUFB9), nuclear gene encoding mitochondrial protein, mRNA. mitochondrial electron transport, NADH to ubiquinone|sensory perception of sound|transport mitochondrial respiratory chain complex I NADH dehydrogenase (ubiquinone) activity p.?(1) kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1) 8 Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108) STAD - Stomach adenocarcinoma(47;0.00288) NADH(DB00157) GCAACTCCGCCCTTCCGGCTG 0.662000 47 13 0 0 0.00185496 0 0 LRRC66 339977 broad.mit.edu 37 4 52883365 52883365 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr4:52883365G>A uc003gzi.3 - 0 422 c.415C>T c.(415-417)Cac>Tac p.H139Y NM_001024611 NP_001019782 Q68CR7 LRC66_HUMAN Homo sapiens leucine rich repeat containing 66 (LRRC66), mRNA. 139 integral to membrane p.R138H(1) central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1) 58 CTGCTTCTGTGGCGTTTCACC 0.428000 40 66 0 0 0.00361006 0 0 TCOF1 6949 broad.mit.edu 37 5 149754238 149754238 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr5:149754238C>T uc003lry.3 + 8 1250 c.1142C>T c.(1141-1143)tCc>tTc p.S381F TCOF1_uc003lrw.3_Missense_Mutation_p.S381F|TCOF1_uc003lrz.3_Missense_Mutation_p.S381F|TCOF1_uc011dch.2_Missense_Mutation_p.S381F|TCOF1_uc003lrx.3_Missense_Mutation_p.S304F|TCOF1_uc003lsa.3_Missense_Mutation_p.S304F|TCOF1_uc011dci.1_5'Flank NM_001135243 NP_001128715 Q13428 TCOF_HUMAN Homo sapiens Treacher Collins-Franceschetti syndrome 1 (TCOF1), transcript variant 4, mRNA. 381 skeletal system development nucleolus protein binding|transporter activity NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1) 35 all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) GCCAAGGAGTCCCCCAGGAAA 0.657000 38 14 0 0 0.00244969 0 0 SH3TC2 79628 broad.mit.edu 37 5 148422391 148422391 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr5:148422391G>A uc003lpu.3 - 4 547 c.395C>T c.(394-396)tCc>tTc p.S132F SH3TC2_uc003lpp.1_Non-coding_Transcript|SH3TC2_uc003lps.3_5'Flank|SH3TC2_uc003lpt.3_5'UTR|SH3TC2_uc010jgx.3_Intron|SH3TC2_uc003lpv.1_5'UTR|SH3TC2_uc011dbz.1_Missense_Mutation_p.S17F NM_024577 NP_078853 Q8TF17 S3TC2_HUMAN Homo sapiens SH3 domain and tetratricopeptide repeats 2 (SH3TC2), mRNA. 132 binding breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 39 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TAGACACATGGATACGTAGCC 0.428000 19 24 0 0 0.00127121 0 0 NLRC5 84166 broad.mit.edu 37 16 57088686 57088686 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr16:57088686C>T uc021tiu.1 + 23 3657 c.3530C>T c.(3529-3531)cCg>cTg p.P1177L NLRC5_uc021tiv.1_Missense_Mutation_p.P982L|NLRC5_uc021tiw.1_Missense_Mutation_p.P952L|NLRC5_uc010ccr.1_Non-coding_Transcript|NLRC5_uc010ccs.1_Non-coding_Transcript|NLRC5_uc002eko.1_Non-coding_Transcript|NLRC5_uc002ekq.1_5'UTR|NLRC5_uc002ekr.1_Missense_Mutation_p.P93L NM_032206 NP_115582 Q86WI3 NLRC5_HUMAN Homo sapiens NLR family, CARD domain containing 5 (NLRC5), mRNA. 1177 defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity cytosol|nucleus ATP binding|RNA polymerase II core promoter sequence-specific DNA binding|protein binding p.P1177Q(2) NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 75 all_neural(199;0.225) GGACTGTCCCCGAAAAGCCCC 0.582000 82 108 0 0 0.00361006 0 0 SEC14L3 266629 broad.mit.edu 37 22 30867904 30867904 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr22:30867904C>T uc003ahy.3 - 0 131 c.42G>A c.(40-42)gaG>gaA p.E14E SEC14L3_uc003ahz.3_5'UTR|SEC14L3_uc003aia.3_5'UTR|SEC14L3_uc003aib.3_5'UTR NM_174975 NP_777635 Q9UDX4 S14L3_HUMAN Homo sapiens SEC14-like 3 (S. cerevisiae) (SEC14L3), mRNA. 14 integral to membrane|intracellular lipid binding|transporter activity NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(3)|pancreas(1)|skin(2)|urinary_tract(1) 19 Vitamin E(DB00163) TGGCCAGGGTCTCTGCCTGTT 0.627000 79 62 0 0 0.00361006 0 0 NCALD 83988 broad.mit.edu 37 8 102701627 102701627 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr8:102701627G>A uc003yke.3 - 3 861 c.492C>T c.(490-492)ctC>ctT p.L164L NCALD_uc003ykf.3_Silent_p.L164L|NCALD_uc003ykg.3_Silent_p.L164L|NCALD_uc003ykh.3_Silent_p.L164L|NCALD_uc003yki.3_Silent_p.L164L|NCALD_uc003ykj.3_Silent_p.L164L|NCALD_uc003ykk.3_Silent_p.L164L|NCALD_uc003ykl.3_Silent_p.L164L NM_032041 NP_114430 P61601 NCALD_HUMAN Homo sapiens neurocalcin delta (NCALD), transcript variant 8, mRNA. 164 EF-hand 4. synaptic transmission|vesicle-mediated transport clathrin coat of trans-Golgi network vesicle|cytosol actin binding|calcium ion binding|clathrin binding|tubulin binding endometrium(1)|large_intestine(2)|lung(4)|prostate(1) 8 all_cancers(14;8.94e-08)|all_epithelial(15;7.03e-10)|Lung NSC(17;1.36e-05)|all_lung(17;2.7e-05) all cancers(13;1.09e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000699) CTTCCAGGGAGAGTTTTCCTA 0.607000 10 9 0 0 0.000274275 0 0 CYFIP2 26999 broad.mit.edu 37 5 156816240 156816240 + Missense_Mutation SNP G C C TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr5:156816240G>C uc021ygm.1 + 28 3386 c.3248G>C c.(3247-3249)cGg>cCg p.R1083P CYFIP2_uc011ddn.2_Missense_Mutation_p.R1058P|CYFIP2_uc011ddo.2_Missense_Mutation_p.R888P|CYFIP2_uc021ygn.1_Missense_Mutation_p.R1083P|CYFIP2_uc021ygo.1_Missense_Mutation_p.R1083P|CYFIP2_uc003lwt.3_Missense_Mutation_p.R987P|CYFIP2_uc011ddp.2_Missense_Mutation_p.R818P NM_001037333 NP_001032410 Q96F07 CYFP2_HUMAN Homo sapiens cytoplasmic FMR1 interacting protein 2 (CYFIP2), transcript variant 1, mRNA. 1109 apoptosis|cell-cell adhesion cell junction|perinuclear region of cytoplasm|synapse|synaptosome protein binding breast(1)|endometrium(12)|kidney(2)|lung(23) 38 Renal(175;0.00212) Medulloblastoma(196;0.0306)|all_neural(177;0.0897) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) ACCAAGGAGCGGCTGTGCTGT 0.607000 102 128 0 0 0.00361006 0 0 TPP2 7174 broad.mit.edu 37 13 103295587 103295587 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr13:103295587C>T uc001vpi.4 + 16 2139 c.2036C>T c.(2035-2037)tCg>tTg p.S679L NM_003291 NP_003282 P29144 TPP2_HUMAN Homo sapiens tripeptidyl peptidase II (TPP2), mRNA. 679 proteolysis cytoplasm|nucleus aminopeptidase activity|serine-type endopeptidase activity|tripeptidyl-peptidase activity breast(2)|endometrium(5)|kidney(2)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 52 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) ACAGTGTGTTCGTGTTCTTCT 0.363000 43 19 0 0 0.00229938 0 0 BATF2 116071 broad.mit.edu 37 11 64756792 64756792 + Nonsense_Mutation SNP C T T rs139572037 TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr11:64756792C>T uc021qlb.1 - 0 1195 c.654G>A c.(652-654)tgG>tgA p.W218* BATF2_uc001oce.1_Missense_Mutation_p.E127K|BATF2_uc001ocf.1_Missense_Mutation_p.E212K NM_138456 NP_612465 Q8N1L9 BATF2_HUMAN Homo sapiens basic leucine zipper transcription factor, ATF-like 2 (BATF2), mRNA. 211 nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(1)|ovary(1)|skin(1) 9 GTGGGATGCTCCAGCTCGAGG 0.647000 21 20 0 0 0.000958276 0 0 TPD52 7163 broad.mit.edu 37 8 80962685 80962686 + Missense_Mutation DNP GG AA AA TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr8:80962685_80962686GG>AA uc022awn.1 - 4 849_850 c.527_528CC>TT c.(526-528)tcc>tTT p.S176F TPD52_uc010lzr.3_Intron|TPD52_uc010lzs.1_Non-coding_Transcript|TPD52_uc003ybs.1_Missense_Mutation_p.S136F|TPD52_uc003ybt.1_Intron|TPD52_uc003ybq.1_Intron|TPD52_uc003ybr.1_Intron|TPD52_uc022awm.1_Non-coding_Transcript|TPD52_uc022awo.1_Intron|TPD52_uc022awp.1_Missense_Mutation_p.S176F NM_001025253 NP_001020424 P55327 TPD52_HUMAN Homo sapiens tumor protein D52 (TPD52), transcript variant 2, mRNA. 169 B cell differentiation|anatomical structure morphogenesis|secretion endoplasmic reticulum|perinuclear region of cytoplasm calcium ion binding|protein heterodimerization activity|protein homodimerization activity endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1) 8 all_epithelial(4;1.13e-09)|Lung NSC(7;9.71e-07)|all_lung(9;3.75e-06) Lung NSC(129;3.55e-06)|all_lung(136;1.53e-05)|Acute lymphoblastic leukemia(644;0.158) BRCA - Breast invasive adenocarcinoma(6;0.00181)|Epithelial(68;0.0149)|all cancers(69;0.0612) CTTACCTAAAGGAATGTGAAAA 0.351000 11 15 0 0 6.4e-05 0 0 JPH3 57338 broad.mit.edu 37 16 87678642 87678642 + Splice_Site SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr16:87678642G>A uc002fkd.3 + 2 1414 c.1160_splice c.e2+1 p.R387_splice JPH3_uc010vou.1_Splice_Site NM_020655 NP_065706 Q8WXH2 JPH3_HUMAN Homo sapiens junctophilin 3 (JPH3), mRNA. 387 Ala-rich. calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane protein binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 30 BRCA - Breast invasive adenocarcinoma(80;0.0287) CGGCTTCCAGGTAGGAGGGCG 0.672000 7 10 0 0 0.00185496 0 0 TESK2 10420 broad.mit.edu 37 1 45810872 45810872 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:45810872G>A uc001cns.1 - 10 1759 c.1356C>T c.(1354-1356)cgC>cgT p.R452R TESK2_uc009vxr.1_Silent_p.R423R|TESK2_uc010olo.1_Silent_p.R369R|TESK2_uc009vxs.1_Silent_p.R244R NM_007170 NP_009101 Q96S53 TESK2_HUMAN Homo sapiens testis-specific kinase 2 (TESK2), mRNA. 452 actin cytoskeleton organization|focal adhesion assembly|spermatogenesis nucleus ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(9)|ovary(2)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 32 Acute lymphoblastic leukemia(166;0.155) AACGCCACCGGCGAATAGGTG 0.607000 23 68 0 0 0.00361006 0 0 RGL1 23179 broad.mit.edu 37 1 183857693 183857693 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:183857693C>T uc001gqm.3 + 8 1603 c.1142C>T c.(1141-1143)aCt>aTt p.T381I RGL1_uc010pof.1_Missense_Mutation_p.T151I|RGL1_uc010pog.2_Missense_Mutation_p.T344I|RGL1_uc010poh.2_Missense_Mutation_p.T344I|RGL1_uc001gqo.3_Missense_Mutation_p.T346I|RGL1_uc010poi.2_Missense_Mutation_p.T346I NM_015149 NP_055964 Q9NZL6 RGL1_HUMAN Homo sapiens ral guanine nucleotide dissociation stimulator-like 1 (RGL1), mRNA. 346 Ras-GEF. cellular lipid metabolic process|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction intracellular Ral guanyl-nucleotide exchange factor activity|protein binding breast(5)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(17)|ovary(4)|prostate(3)|stomach(1) 51 TTAAAAAAGACTTGGGCTGCC 0.468000 85 35 0 0 0.0024448 0 0 RBMX 27316 broad.mit.edu 37 X 135956521 135956521 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chrX:135956521C>T uc004fae.2 - 8 1166 c.956G>A c.(955-957)gGa>gAa p.G319E RBMX_uc011mwf.1_Intron|RBMX_uc004fad.1_3'UTR|RBMX_uc011mwg.2_Missense_Mutation_p.G280E|RBMX_uc004faf.2_Missense_Mutation_p.G180E NM_002139 NP_002130 P38159 HNRPG_HUMAN Homo sapiens RNA binding motif protein, X-linked (RBMX), transcript variant 1, mRNA. 319 catalytic step 2 spliceosome|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm RNA binding|nucleotide binding|protein binding NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|urinary_tract(1) 33 Acute lymphoblastic leukemia(192;0.000127) TCCACCATATCCGTCACGTGA 0.542000 66 19 0 0 0.00127121 0 0 FRG1B 284802 broad.mit.edu 37 20 29625891 29625891 + Silent SNP C G G TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr20:29625891C>G uc010ztl.1 + 1 77 c.45C>G c.(43-45)ggC>ggG p.G15G FRG1B_uc002wvm.1_Non-coding_Transcript|FRG1B_uc010ztj.1_Non-coding_Transcript|FRG1B_uc010gdr.1_Non-coding_Transcript|FRG1B_uc010ztk.1_Intron Homo sapiens FSHD region gene 1 family, member B (FRG1B), non-coding RNA. p.P15P(1) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 TGAAATCTGGCTATGGAAAAT 0.343000 120 6 0 0 0.00198382 0 0 BVES 11149 broad.mit.edu 37 6 105563648 105563648 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr6:105563648C>T uc003pqw.3 - 6 1028 c.871G>A c.(871-873)Gaa>Aaa p.E291K BVES_uc003pqx.3_Missense_Mutation_p.E291K|BVES_uc003pqy.3_Missense_Mutation_p.E291K NM_147147 NP_671488 Q8NE79 POPD1_HUMAN Homo sapiens blood vessel epicardial substance (BVES), transcript variant B, mRNA. 291 epithelial cell-cell adhesion|muscle organ development|positive regulation of locomotion|positive regulation of receptor recycling|regulation of Cdc42 GTPase activity|regulation of Rac GTPase activity|regulation of cell shape|substrate adhesion-dependent cell spreading|vesicle-mediated transport integral to membrane|lateral plasma membrane|tight junction structural molecule activity NS(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|urinary_tract(1) 21 all_cancers(87;2.83e-05)|Acute lymphoblastic leukemia(125;1.95e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0101)|Colorectal(196;0.204)|Lung NSC(302;0.238) TTCCTCATTTCCAACATGGAG 0.463000 8 42 0 0 0.00170553 0 0 CNST 163882 broad.mit.edu 37 1 246810669 246810669 + Missense_Mutation SNP C T T rs149528217 TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:246810669C>T uc001ibp.3 + 8 1544 c.1166C>T c.(1165-1167)tCt>tTt p.S389F CNST_uc001ibo.4_Missense_Mutation_p.S389F NM_152609 NP_689822 Q6PJW8 CNST_HUMAN Homo sapiens consortin, connexin sorting protein (CNST), transcript variant 1, mRNA. 389 positive regulation of Golgi to plasma membrane protein transport integral to membrane|plasma membrane|protein complex|trans-Golgi network|transport vesicle connexin binding breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|urinary_tract(2) 28 GGGCCAGACTCTTCTGAGGAT 0.592000 OREG0014367 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 55 118 0 0 0.00361006 0 0 ZNF831 128611 broad.mit.edu 37 20 57829282 57829283 + Missense_Mutation DNP GG AA AA TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr20:57829282_57829283GG>AA uc002yan.3 + 4 4518_4519 c.4518_4519GG>AA c.(4516-4521)caggaa>caAAaa p.E1507K NM_178457 NP_848552 Q5JPB2 ZN831_HUMAN Homo sapiens zinc finger protein 831 (ZNF831), mRNA. 1507 intracellular nucleic acid binding|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3) 125 all_lung(29;0.0085) ACATAGCCCAGGAAATTCACAG 0.515000 58 40 0 0 6.4e-05 0 0 PLXNA4 91584 broad.mit.edu 37 7 131817886 131817886 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr7:131817886G>A uc003vra.4 - 30 5740 c.5511C>T c.(5509-5511)tcC>tcT p.S1837S PLXNA4_uc003vqz.4_Silent_p.S122S NM_020911 NP_065962 Q9HCM2 PLXA4_HUMAN Homo sapiens plexin A4 (PLXNA4), transcript variant 1, mRNA. 1837 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 TGTGCATCCGGGACTGCTCAG 0.517000 92 26 0 0 0.000720815 0 0 SPN 6693 broad.mit.edu 37 16 29675227 29675227 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr16:29675227G>A uc021tgd.1 + 0 178 c.178G>A c.(178-180)Gac>Aac p.D60N BOLA2_uc010bzb.1_Intron|SPN_uc002dtm.3_Missense_Mutation_p.D60N|SPN_uc002dtn.3_Missense_Mutation_p.D60N NM_003123 NP_003114 P16150 LEUK_HUMAN Homo sapiens sialophorin (SPN), transcript variant 2, mRNA. 60 blood coagulation|cellular defense response|chemotaxis|defense response to bacterium|establishment or maintenance of cell polarity|immune response|leukocyte migration|negative regulation of cell adhesion|positive regulation of tumor necrosis factor biosynthetic process extracellular space|integral to plasma membrane bacterial cell surface binding|transmembrane receptor activity central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)|stomach(1) 15 CAGCACTGGGGACCAGACCTC 0.552000 41 71 0 0 0.00361006 0 0 KIR2DL5B 553128 broad.mit.edu 37 GL000209.1 95571 95571 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chrGL000209.1:95571G>A uc002quk.1 + 7 1012 c.957G>A c.(955-957)aaG>aaA p.K319K KIR2DL2_uc002qtt.2_Intron|KIR2DL2_uc002qty.3_Intron|KIR2DL2_uc021vdb.1_Intron|KIR2DL2_uc010yie.2_Intron|KIR2DL2_uc002qul.2_5'Flank NM_001018081 NP_001018091 Q8NHK4 Q8NHK4_HUMAN Homo sapiens killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 5B (KIR2DL5B), mRNA. 319 receptor activity AGAGGCCCAAGACACCTCCAA 0.488000 122 99 0 0 0.00361006 0 0 SOGA1 140710 broad.mit.edu 37 20 35444643 35444643 + Missense_Mutation SNP T G G TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr20:35444643T>G uc021wcx.1 - 4 1542 c.1202A>C c.(1201-1203)aAg>aCg p.K401T SOGA1_uc002xgd.1_Missense_Mutation_p.K163T NM_080627 NP_542194 O94964 K0889_HUMAN Homo sapiens KIAA0889 (KIAA0889), transcript variant 1, mRNA. 163 endometrium(5)|kidney(1)|lung(21)|urinary_tract(1) 28 CTTAGTGAGCTTCTTGCACAT 0.567000 66 90 0 0 0.00361006 0 0 KCNRG 283518 broad.mit.edu 37 13 50589959 50589959 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr13:50589959G>A uc001vdu.3 + 0 570 c.330G>A c.(328-330)gtG>gtA p.V110V DLEU2_uc001vdn.1_Intron|DLEU2_uc001vdo.1_Intron|KCNRG_uc001vdt.3_Silent_p.V110V|TRIM13_uc001vdp.1_3'UTR|TRIM13_uc001vdq.1_3'UTR|TRIM13_uc001vdr.1_3'UTR|TRIM13_uc001vds.1_3'UTR NM_173605 NP_775876 Q8N5I3 KCNRG_HUMAN Homo sapiens potassium channel regulator (KCNRG), transcript variant 1, mRNA. 110 voltage-gated potassium channel complex identical protein binding|voltage-gated potassium channel activity haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3) 9 Acute lymphoblastic leukemia(7;3.41e-06)|Lung NSC(96;3.08e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19) GBM - Glioblastoma multiforme(99;1.48e-10)|COAD - Colon adenocarcinoma(199;0.204) CTGCTCTTGTGGAGGTACATT 0.438000 56 75 0 0 0.00361006 0 0 AGBL1 123624 broad.mit.edu 37 15 86807643 86807643 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr15:86807643C>T uc002blz.1 + 9 1183 c.1103C>T c.(1102-1104)tCc>tTc p.S368F AGBL1_uc002bma.1_Missense_Mutation_p.S99F|AGBL1_uc002bmb.1_Missense_Mutation_p.S62F NM_152336 NP_689549 Q96MI9 CBPC4_HUMAN Homo sapiens ATP/GTP binding protein-like 1 (AGBL1), mRNA. 368 C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis cytosol metallocarboxypeptidase activity|tubulin binding|zinc ion binding NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 62 GTCCAGACTTCCCTTCTGTGC 0.493000 13 13 0 0 0.00316338 0 0 RAB27B 5874 broad.mit.edu 37 18 52556589 52556589 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr18:52556589G>A uc002lfr.3 + 5 845 c.602G>A c.(601-603)gGa>gAa p.G201E NM_004163 NP_004154 O00194 RB27B_HUMAN Homo sapiens RAB27B, member RAS oncogene family (RAB27B), mRNA. 201 protein transport|small GTPase mediated signal transduction Golgi apparatus|plasma membrane GTP binding|GTPase activity large_intestine(3)|lung(3)|skin(1) 7 Colorectal(16;0.0273)|READ - Rectum adenocarcinoma(59;0.219) GTCAATGGTGGAAATTCTGGA 0.413000 28 23 0 0 0.00229938 0 0 ZBTB40 9923 broad.mit.edu 37 1 22828003 22828003 + Missense_Mutation SNP G C C TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:22828003G>C uc001bft.2 + 4 1361 c.850G>C c.(850-852)Gag>Cag p.E284Q ZBTB40_uc001bfu.2_Missense_Mutation_p.E284Q|ZBTB40_uc009vqi.1_Intron|ZBTB40_uc001bfv.1_5'Flank NM_001083621 NP_055685 Q9NUA8 ZBT40_HUMAN Homo sapiens zinc finger and BTB domain containing 40 (ZBTB40), transcript variant 1, mRNA. 284 bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.F283F(1) endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 26 Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216) GAAATGTTTCGAGGGTGAAGG 0.453000 36 10 0 0 0.000978159 0 0 OR10V1 390201 broad.mit.edu 37 11 59480591 59480591 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr11:59480591G>A uc001nof.1 - 0 728 c.728C>T c.(727-729)tCt>tTt p.S243F NM_001005324 NP_001005324 Q8NGI7 O10V1_HUMAN Homo sapiens olfactory receptor, family 10, subfamily V, member 1 (OR10V1), mRNA. 243 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|large_intestine(3)|liver(1)|lung(10)|skin(1) 16 GATGTGAGAAGAGCAGGTAGA 0.527000 26 15 0 0 0.000422831 0 0 KRTAP4-9 100132386 broad.mit.edu 37 17 39262217 39262217 + Missense_Mutation SNP A G G TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr17:39262217A>G uc010wfp.2 + 0 577 c.577A>G c.(577-579)Acc>Gcc p.T193A NM_001146041 NP_001139513 Q9BYQ8 KRA49_HUMAN Homo sapiens keratin associated protein 4-9 (KRTAP4-9), mRNA. 193 keratin filament central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3) 14 CTATCGCCCAACCTGTGTCAT 0.652000 5 3 0 0 0.000602214 0 0 TNS3 64759 broad.mit.edu 37 7 47408318 47408318 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr7:47408318G>A uc003tnw.3 - 16 2283 c.1925C>T c.(1924-1926)gCt>gTt p.A642V TNS3_uc022acn.1_Missense_Mutation_p.A199V NM_022748 NP_073585 Q68CZ2 TENS3_HUMAN Homo sapiens tensin 3 (TNS3), mRNA. 642 focal adhesion protein binding p.V641L(1) NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 64 CCTCTGGACAGCCACCCTACT 0.657000 63 38 0 0 0.00111076 0 0 VOPP1 81552 broad.mit.edu 37 7 55560112 55560112 + Splice_Site SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr7:55560112C>T uc003tqs.3 - 4 375 c.192_splice c.e4-1 p.W64_splice VOPP1_uc003tqq.3_Splice_Site_p.W55_splice|VOPP1_uc010kzh.3_Splice_Site_p.W61_splice|VOPP1_uc010kzi.3_Splice_Site_p.W47_splice|VOPP1_uc011kcr.2_Splice_Site NM_030796 NP_110423 Q96AW1 VOPP1_HUMAN Homo sapiens vesicular, overexpressed in cancer, prosurvival protein 1 (VOPP1), mRNA. 64 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic vesicle membrane|endosome|integral to organelle membrane signal transducer activity endometrium(1)|lung(4) 5 CAGAAGGAACCTGAGGAGAGT 0.637000 14 6 0 0 0.00116845 0 0 EIF2C1 26523 broad.mit.edu 37 1 36360795 36360796 + Missense_Mutation DNP CC TT TT TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:36360795_36360796CC>TT uc001bzl.3 + 7 1158_1159 c.945_946CC>TT c.(943-948)aacctt>aaTTtt p.L316F EIF2C1_uc001bzk.3_Missense_Mutation_p.L241F|EIF2C1_uc009vuy.3_Non-coding_Transcript NM_012199 NP_036331 Q9UL18 AGO1_HUMAN Homo sapiens eukaryotic translation initiation factor 2C, 1 (EIF2C1), mRNA. 316 PAZ. negative regulation of translation involved in gene silencing by miRNA|nuclear-transcribed mRNA catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic mRNA processing body|cytosol|micro-ribonucleoprotein complex|polysome RNA binding|protein binding biliary_tract(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(2)|prostate(1)|skin(6)|urinary_tract(1) 36 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) AGAAATATAACCTTCAGCTCAA 0.505000 49 18 0 0 6.4e-05 0 0 CTAGE5 4253 broad.mit.edu 37 14 39818153 39818153 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr14:39818153C>T uc001wvi.4 + 22 2571 c.2235C>T c.(2233-2235)ttC>ttT p.F745F CTAGE5_uc001wuy.4_Silent_p.F660F|CTAGE5_uc001wuz.4_Silent_p.F728F|CTAGE5_uc001wva.4_Silent_p.F711F|CTAGE5_uc001wvb.4_Silent_p.F668F|CTAGE5_uc001wvc.4_Silent_p.F642F|CTAGE5_uc001wvf.4_Silent_p.F665F|CTAGE5_uc001wvg.4_Silent_p.F740F|CTAGE5_uc001wvh.4_Silent_p.F697F|CTAGE5_uc010amz.3_Silent_p.F356F|CTAGE5_uc001wvj.4_Silent_p.F711F NM_001247989 NP_001234918 O15320 CTGE5_HUMAN Homo sapiens CTAGE family, member 5 (CTAGE5), transcript variant 6, mRNA. 740 Pro-rich. enzyme activator activity|protein binding CTAGE5/SIP1(2) breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 28 Hepatocellular(127;0.213) LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711) GBM - Glioblastoma multiforme(112;0.0475) CAGGGGATTTCCCAGGTCCAC 0.423000 74 25 0 0 0.000720815 0 0 MPO 4353 broad.mit.edu 37 17 56355300 56355300 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr17:56355300G>A uc002ivu.1 - 6 1269 c.1092C>T c.(1090-1092)gcC>gcT p.A364A NM_000250 NP_000241 P05164 PERM_HUMAN Homo sapiens myeloperoxidase (MPO), nuclear gene encoding mitochondrial protein, mRNA. 364 anti-apoptosis|hydrogen peroxide catabolic process|low-density lipoprotein particle remodeling extracellular space|lysosome|nucleus|stored secretory granule chromatin binding|heme binding|heparin binding|peroxidase activity breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(13)|ovary(2)|pancreas(1)|skin(4)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4) 46 Cefdinir(DB00535) GCTGGTTGACGGCCAGCAGCC 0.652000 35 14 0 0 0.00185496 0 0 FAM83E 54854 broad.mit.edu 37 19 49107041 49107042 + Missense_Mutation DNP GG AA AA TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:49107041_49107042GG>AA uc002pjn.2 - 3 950_951 c.885_886CC>TT c.(883-888)cccccc>ccTTcc p.P296S SPACA4_uc002pjo.3_5'Flank NM_017708 NP_060178 Q2M2I3 FA83E_HUMAN Homo sapiens family with sequence similarity 83, member E (FAM83E), mRNA. 296 NS(1)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(2) 10 all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158) GGTTTCTGGGGGGGCGCAGGTG 0.718000 5 7 0 0 6.4e-05 0 0 DCC 1630 broad.mit.edu 37 18 51013171 51013171 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr18:51013171C>T uc002lfe.2 + 25 4357 c.3741C>T c.(3739-3741)gtC>gtT p.V1247V DCC_uc010dpf.2_Silent_p.V882V NM_005215 NP_005206 P43146 DCC_HUMAN Homo sapiens deleted in colorectal carcinoma (DCC), mRNA. 1247 apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development cytosol|integral to membrane p.A1246S(1) NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6) 148 all_cancers(7;0.11)|all_epithelial(6;0.00126) Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942) TTGCAGCTGTCGTGAGCGCCA 0.483000 57 31 0 0 0.00327116 0 0 FLT1 2321 broad.mit.edu 37 13 28919595 28919595 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr13:28919595C>T uc001usb.3 - 15 2627 c.2342G>A c.(2341-2343)cGa>cAa p.R781Q FLT1_uc001usa.3_5'UTR NM_002019 NP_002010 P17948 VGFR1_HUMAN Homo sapiens fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor) (FLT1), transcript variant 1, mRNA. 781 R -> Q (in a glioma low grade oligodendroglioma sample; somatic mutation). cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway Golgi apparatus|extracellular space|integral to plasma membrane|nucleus ATP binding|growth factor binding|vascular endothelial growth factor receptor activity p.R781Q(2) NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 115 Acute lymphoblastic leukemia(6;0.04) Lung SC(185;0.0262)|Breast(139;0.188) Colorectal(13;0.000674) all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207) Sunitinib(DB01268) TTTCATTTTTCGGATAAAGAG 0.423000 15 4 0 0 0.00024832 0 0 CR1L 1379 broad.mit.edu 37 1 207867858 207867858 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:207867858C>T uc001hga.4 + 4 745 c.624C>T c.(622-624)acC>acT p.T208T CR1L_uc001hfz.2_Non-coding_Transcript|CR1L_uc001hgb.1_Non-coding_Transcript NM_175710 NP_783641 Q2VPA4 CR1L_HUMAN Homo sapiens complement component (3b/4b) receptor 1-like (CR1L), mRNA. 208 Sushi 3. cytoplasm|extracellular region|membrane p.V208V(2) endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 22 TATACTGCACCAGCAAAGATG 0.468000 143 53 0 0 0.00361006 0 0 MIP 4284 broad.mit.edu 37 12 56848285 56848285 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr12:56848285G>A uc001slh.3 - 0 151 c.113C>T c.(112-114)cCc>cTc p.P38L NM_012064 NP_036196 P30301 MIP_HUMAN Homo sapiens major intrinsic protein of lens fiber (MIP), mRNA. 38 response to stimulus|visual perception gap junction|integral to plasma membrane structural constituent of eye lens p.P38P(1) kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(3)|urinary_tract(1) 16 AACATGCAGGGGTCCAGGAGC 0.582000 19 45 0 0 0.00361006 0 0 ZCCHC5 203430 broad.mit.edu 37 X 77913819 77913819 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chrX:77913819G>A uc022bzi.1 - 0 99 c.99C>T c.(97-99)ctC>ctT p.L33L ZCCHC5_uc004edc.1_Silent_p.L33L NM_152694 NP_689907 Q8N8U3 ZCHC5_HUMAN Homo sapiens zinc finger, CCHC domain containing 5 (ZCCHC5), mRNA. 33 nucleic acid binding|zinc ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)|prostate(1)|skin(1) 37 TCTGGGCCTGGAGAGCAGCAT 0.522000 3 11 0 0 0.00185496 0 0 TTN 7273 broad.mit.edu 37 2 179648923 179648923 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:179648923G>A uc021vsy.1 - 15 2874 c.2649C>T c.(2647-2649)ttC>ttT p.F883F TTN_uc021vsz.1_Silent_p.F837F|TTN_uc021vta.1_Silent_p.F837F|TTN_uc021vtb.1_Silent_p.F837F|TTN_uc002unb.2_Silent_p.F883F NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 883 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) GTGTGTCAGCGAAGGGGAACT 0.537000 58 46 0 0 0.00361006 0 0 NOTCH2NL 388677 broad.mit.edu 37 1 145281479 145281480 + Missense_Mutation DNP GG TT TT TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:145281479_145281480GG>TT uc001emn.4 + 3 779_780 c.409_410GG>TT c.(409-411)ggg>TTg p.G137L NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|NOTCH2NL_uc001emm.4_Missense_Mutation_p.G137L|NOTCH2NL_uc001emo.2_Missense_Mutation_p.G137L|NBPF10_uc010oyh.1_Non-coding_Transcript|NBPF10_uc021ouk.1_5'UTR NM_203458 NP_982283 Q7Z3S9 NT2NL_HUMAN Homo sapiens notch 2 N-terminal like (NOTCH2NL), mRNA. 137 EGF-like 4. Notch signaling pathway|cell differentiation|multicellular organismal development cytoplasm|extracellular region calcium ion binding p.T136T(1) NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 27 AGGCTTCACAGGGCAGAAGTGT 0.554000 927 20 0 0 6.4e-05 0 0 abParts 0 broad.mit.edu 37 14 106725138 106725138 + RNA SNP C T T rs61750790 by1000genomes TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr14:106725138C>T uc021ser.1 - 928 c.22340G>A Parts of antibodies, mostly variable regions. CGCTGATTTCCCCCCCATCGT 0.587000 38 35 0 0 0.00283554 0 0 MLC1 23209 broad.mit.edu 37 22 50506907 50506907 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr22:50506907G>A uc003bjg.1 - 9 1122 c.849C>T c.(847-849)atC>atT p.I283I MLC1_uc011arl.1_Silent_p.I231I|MLC1_uc003bjh.1_Silent_p.I283I|MLC1_uc011arm.1_Silent_p.I253I|MLC1_uc011arn.1_Silent_p.I204I|MLC1_uc011aro.1_Silent_p.I249I NM_139202 NP_631941 Q15049 MLC1_HUMAN Homo sapiens megalencephalic leukoencephalopathy with subcortical cysts 1 (MLC1), transcript variant 2, mRNA. 283 basolateral plasma membrane|endosome|integral to membrane|integral to membrane of membrane fraction ion channel activity endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|pancreas(1)|prostate(3) 18 all_cancers(38;7.69e-11)|all_epithelial(38;9.52e-10)|all_lung(38;3.67e-05)|Breast(42;0.000776)|Lung NSC(38;0.000946)|Ovarian(80;0.0365)|Lung SC(80;0.113) READ - Rectum adenocarcinoma(2;0.000669)|Colorectal(2;0.00242)|LUAD - Lung adenocarcinoma(64;0.0695)|BRCA - Breast invasive adenocarcinoma(115;0.216) CGATTCTCATGATGCTGAATG 0.502000 100 109 0 0 0.00361006 0 0 DDHD1 80821 broad.mit.edu 37 14 53521309 53521309 + Missense_Mutation SNP A G G TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr14:53521309A>G uc001xai.3 - 10 2514 c.2284T>C c.(2284-2286)Ttc>Ctc p.F762L DDHD1_uc001xaj.3_Missense_Mutation_p.F769L|DDHD1_uc001xah.3_Missense_Mutation_p.F762L|DDHD1_uc001xag.3_Missense_Mutation_p.F344L|DDHD1_uc001xak.1_Missense_Mutation_p.F158L NM_001160148 NP_001153620 Q8NEL9 DDHD1_HUMAN Homo sapiens DDHD domain containing 1 (DDHD1), transcript variant 3, mRNA. 762 DDHD. lipid catabolic process cytoplasm hydrolase activity|metal ion binding breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(11)|ovary(3)|prostate(1) 25 Breast(41;0.037) AATCTTGAGAACAACATTCCT 0.443000 24 35 0 0 0.00111076 0 0 FAM190B 54462 broad.mit.edu 37 10 86131800 86131800 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr10:86131800C>T uc010qmd.1 + 1 1186 c.992C>T c.(991-993)tCt>tTt p.S331F FAM190B_uc001kdg.1_Missense_Mutation_p.S331F|FAM190B_uc001kdh.1_Missense_Mutation_p.S331F Q9H7U1 F190B_HUMAN Homo sapiens family with sequence similarity 190, member B (FAM190B), mRNA. 331 NS(2)|endometrium(2)|kidney(4)|large_intestine(11)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1) 31 TCTCCATTTTCTGGGACTATG 0.418000 11 57 0 0 0.00361006 0 0 ACSM5 54988 broad.mit.edu 37 16 20439153 20439153 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr16:20439153C>T uc002dhe.3 + 6 1112 c.965C>T c.(964-966)aCc>aTc p.T322I NM_017888 NP_060358 Q6NUN0 ACSM5_HUMAN Homo sapiens acyl-CoA synthetase medium-chain family member 5 (ACSM5), mRNA. 322 fatty acid metabolic process mitochondrial matrix ATP binding|GTP binding|butyrate-CoA ligase activity|metal ion binding breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1) 51 TGTGTCCCAACCATCTTTCGG 0.473000 102 53 0 0 0.00361006 0 0 OR4K17 390436 broad.mit.edu 37 14 20585689 20585689 + Missense_Mutation SNP G A A rs148373137 TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr14:20585689G>A uc001vwo.1 + 0 124 c.124G>A c.(124-126)Gaa>Aaa p.E42K NM_001004715 NP_001004715 Q8NGC6 OR4KH_HUMAN Homo sapiens olfactory receptor, family 4, subfamily K, member 17 (OR4K17), mRNA. 14 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|skin(3) 21 all_cancers(95;0.00108) Epithelial(56;7.58e-07)|all cancers(55;3.77e-06) GBM - Glioblastoma multiforme(265;0.0144) TCAAGTGTCAGAATTCATTTT 0.438000 113 63 0 0 0.00361006 0 0 DNAH3 55567 broad.mit.edu 37 16 21008666 21008666 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr16:21008666G>A uc010vbe.2 - 43 6540 c.6540C>T c.(6538-6540)atC>atT p.I2180I NM_017539 NP_060009 Q8TD57 DYH3_HUMAN Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA. 2180 AAA 3 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6) 202 GBM - Glioblastoma multiforme(48;0.207) GCATGTCCACGATGTCCAGCC 0.552000 55 21 0 0 0.00152264 0 0 SLC31A1 1317 broad.mit.edu 37 9 116022652 116022652 + Missense_Mutation SNP G T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr9:116022652G>T uc004bgu.3 + 4 658 c.472G>T c.(472-474)Ggg>Tgg p.G158W FKBP15_uc010muu.1_Intron|SLC31A1_uc004bgv.4_Intron NM_001859 NP_001850 O15431 COPT1_HUMAN Homo sapiens solute carrier family 31 (copper transporters), member 1 (SLC31A1), mRNA. 158 integral to plasma membrane copper ion transmembrane transporter activity breast(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1) 7 GACCTACAACGGGTACCTCTG 0.512000 74 6 0.00307968 0.00884575 0.00307968 1 0 DNMT3A 1788 broad.mit.edu 37 2 25462016 25462016 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:25462016G>A uc002rgc.3 - 19 2648 c.2391C>T c.(2389-2391)aaC>aaT p.N797N DNMT3A_uc002rgd.3_Silent_p.N797N|DNMT3A_uc010eyi.3_Non-coding_Transcript|DNMT3A_uc002rgb.3_Silent_p.N608N NM_022552 NP_783328 Q9Y6K1 DNM3A_HUMAN Homo sapiens DNA (cytosine-5-)-methyltransferase 3 alpha (DNMT3A), transcript variant 3, mRNA. 797 regulation of gene expression by genetic imprinting cytoplasm|euchromatin|nuclear matrix DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding p.N797Y(1) breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2) 1021 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TACCGGGAAGGTTACCCCAGA 0.582000 """Mis, F, N, S""" AML 12 18 0 0 0.00074312 0 0 C1orf116 79098 broad.mit.edu 37 1 207196695 207196695 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:207196695G>A uc001hfd.2 - 3 673 c.414C>T c.(412-414)atC>atT p.I138I C1orf116_uc009xcb.1_5'UTR|C1orf116_uc021pii.1_5'Flank NM_023938 NP_001077393 Q9BW04 SARG_HUMAN Homo sapiens chromosome 1 open reading frame 116 (C1orf116), transcript variant 1, mRNA. 138 cytoplasm|plasma membrane receptor activity autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(4)|stomach(1) 29 Prostate(682;0.19) TGGCAATGTGGATATTCCTAG 0.587000 27 39 0 0 0.00170553 0 0 SDPR 8436 broad.mit.edu 37 2 192700920 192700920 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:192700920C>T uc002utb.3 - 1 1362 c.1007G>A c.(1006-1008)gGt>gAt p.G336D NM_004657 NP_004648 O95810 SDPR_HUMAN Homo sapiens serum deprivation response (SDPR), mRNA. 336 caveola|cytosol phosphatidylserine binding|protein binding NS(1)|central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(3) 23 OV - Ovarian serous cystadenocarcinoma(117;0.0647) Phosphatidylserine(DB00144) TTCGGAATGACCCTCTGCAAA 0.572000 69 60 0 0 0.00361006 0 0 ZFHX3 463 broad.mit.edu 37 16 72827203 72827203 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr16:72827203G>A uc002fck.3 - 8 10051 c.9378C>T c.(9376-9378)ctC>ctT p.L3126L ZFHX3_uc002fcl.3_Silent_p.L2212L NM_006885 NP_008816 Q15911 ZFHX3_HUMAN Homo sapiens zinc finger homeobox 3 (ZFHX3), transcript variant A, mRNA. 3126 muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation transcription factor complex enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding p.L3126R(1) NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11) 153 Ovarian(137;0.13) TGAGGCCCGGGAGCAACACAG 0.562000 74 27 0 0 0.00106085 0 0 SLC4A4 8671 broad.mit.edu 37 4 72306347 72306347 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr4:72306347C>T uc010iic.3 + 7 939 c.822C>T c.(820-822)ttC>ttT p.F274F SLC4A4_uc003hfy.3_Silent_p.F274F|SLC4A4_uc010iib.3_Silent_p.F274F|SLC4A4_uc003hfz.3_Silent_p.F274F|SLC4A4_uc003hgc.4_Silent_p.F230F|SLC4A4_uc003hga.2_Silent_p.F152F|SLC4A4_uc003hgb.3_Silent_p.F230F NM_001134742 NP_001128214 Q9Y6R1 S4A4_HUMAN Homo sapiens solute carrier family 4, sodium bicarbonate cotransporter, member 4 (SLC4A4), transcript variant 3, mRNA. 274 basolateral plasma membrane|integral to plasma membrane inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 58 Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225) AGAATAAGTTCATGAAAAAAT 0.418000 46 26 0 0 0.00106085 0 0 APOL1 8542 broad.mit.edu 37 22 36653381 36653381 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr22:36653381C>T uc003ape.3 + 4 437 c.163C>T c.(163-165)Cca>Tca p.P55S APOL1_uc011amn.1_5'UTR|APOL1_uc021wom.1_Non-coding_Transcript|APOL1_uc011amo.2_Intron|APOL1_uc003apf.3_Missense_Mutation_p.P39S|APOL1_uc011amp.2_Missense_Mutation_p.P39S|APOL1_uc011amq.2_Missense_Mutation_p.P21S|APOL1_uc010gwx.3_5'UTR NM_145343 NP_003652 O14791 APOL1_HUMAN Homo sapiens apolipoprotein L, 1 (APOL1), transcript variant 2, mRNA. 39 cholesterol metabolic process|cytolysis|innate immune response|killing of cells of other organism|lipid transport|lipoprotein metabolic process high-density lipoprotein particle|very-low-density lipoprotein particle chloride channel activity|lipid binding|protein binding breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2) 14 ACAAAACGTTCCAAGTGGGAC 0.562000 75 60 0 0 0.00361006 0 0 FMN2 56776 broad.mit.edu 37 1 240370636 240370636 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:240370636G>A uc010pye.2 + 5 2761 c.2536G>A c.(2536-2538)Gaa>Aaa p.E846K FMN2_uc010pyd.2_Missense_Mutation_p.E842K NM_020066 NP_064450 Q9NZ56 FMN2_HUMAN Homo sapiens formin 2 (FMN2), mRNA. 842 FH1.|Pro-rich. actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions actin binding p.E985K(1) NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2) 178 Ovarian(103;0.127) all_cancers(173;0.013) OV - Ovarian serous cystadenocarcinoma(106;0.0106) AACCAGCCACGAACACTCTGT 0.557000 25 62 0 0 0.00361006 0 0 L1CAM 3897 broad.mit.edu 37 X 153130444 153130444 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chrX:153130444C>T uc004fjb.3 - 21 2986 c.2878G>A c.(2878-2880)Gag>Aag p.E960K L1CAM_uc004fjc.3_Missense_Mutation_p.E960K|L1CAM_uc010nuo.3_Missense_Mutation_p.E955K NM_000425 NP_000416 P32004 L1CAM_HUMAN Homo sapiens L1 cell adhesion molecule (L1CAM), transcript variant 1, mRNA. 960 Fibronectin type-III 4. axon guidance|blood coagulation|cell death|leukocyte migration integral to membrane NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 81 all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05) TTGCCCCCCTCATCCACTGTG 0.677000 3 24 0 0 0.000878237 0 0 TDRD7 23424 broad.mit.edu 37 9 100194381 100194381 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr9:100194381C>T uc004axj.3 + 3 649 c.424C>T c.(424-426)Ccg>Tcg p.P142S TDRD7_uc011lux.2_Missense_Mutation_p.P68S NM_014290 NP_055105 Q8NHU6 TDRD7_HUMAN Homo sapiens tudor domain containing 7 (TDRD7), mRNA. 142 lens fiber cell differentiation|lens morphogenesis in camera-type eye|posttranscriptional regulation of gene expression|spermatogenesis chromatoid body mRNA binding endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 Acute lymphoblastic leukemia(62;0.158) TAATCCAGCACCGTTAAGAGA 0.388000 10 55 0 0 0.00361006 0 0 UACA 55075 broad.mit.edu 37 15 70959686 70959686 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr15:70959686G>A uc002asr.3 - 15 3441 c.3337C>T c.(3337-3339)Cca>Tca p.P1113S UACA_uc010uke.2_Missense_Mutation_p.P1004S|UACA_uc002asq.3_Missense_Mutation_p.P1100S|UACA_uc010bin.1_Missense_Mutation_p.P1088S NM_018003 NP_060473 Q9BZF9 UACA_HUMAN Homo sapiens uveal autoantigen with coiled-coil domains and ankyrin repeats (UACA), transcript variant 1, mRNA. 1113 cytoskeleton|extracellular region breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2) 50 TGTTCCAATGGAACATGTTGT 0.373000 94 47 0 0 0.00361006 0 0 ADAMTS20 80070 broad.mit.edu 37 12 43826135 43826135 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr12:43826135G>A uc010skx.2 - 20 3068 c.3068C>T c.(3067-3069)cCc>cTc p.P1023L ADAMTS20_uc001rno.1_Missense_Mutation_p.P177L|ADAMTS20_uc001rnp.1_Missense_Mutation_p.P177L NM_025003 NP_079279 P59510 ATS20_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 20 (ADAMTS20), mRNA. 1023 TSP type-1 4. 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) AGCCCAACTGGGACAGGAAAA 0.388000 19 24 0 0 0.00278032 0 0 LRP5L 91355 broad.mit.edu 37 22 25755850 25755850 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr22:25755850G>A uc003abs.3 - 0 2675 c.210C>T c.(208-210)atC>atT p.I70I LRP5L_uc011ajz.2_Silent_p.I70I|LRP5L_uc010guw.1_Silent_p.I70I NM_182492 NP_872298 A4QPB2 LRP5L_HUMAN Homo sapiens low density lipoprotein receptor-related protein 5-like (LRP5L), transcript variant 1, mRNA. 70 central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(2) 6 CTGACACCAGGATCTTGTGGG 0.612000 118 58 0 0 0.00361006 0 0 ISX 91464 broad.mit.edu 37 22 35478537 35478537 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr22:35478537C>T uc003anj.3 + 1 1207 c.256C>T c.(256-258)Cgt>Tgt p.R86C NM_001008494 NP_001008494 Q2M1V0 ISX_HUMAN Homo sapiens intestine-specific homeobox (ISX), mRNA. 86 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.R86C(4) breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(12)|ovary(3)|prostate(1)|skin(4) 26 GCGGAGGGTTCGTACCACCTT 0.557000 64 77 0 0 0.00361006 0 0 TRERF1 55809 broad.mit.edu 37 6 42236396 42236396 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr6:42236396C>T uc003ose.2 - 4 1496 c.933G>A c.(931-933)caG>caA p.Q311Q TRERF1_uc011duq.1_Silent_p.Q311Q|TRERF1_uc003osb.2_Silent_p.Q150Q|TRERF1_uc003osc.2_Silent_p.Q150Q|TRERF1_uc003osd.2_Silent_p.Q311Q NM_033502 NP_277037 Q96PN7 TREF1_HUMAN Homo sapiens transcriptional regulating factor 1 (TRERF1), mRNA. 311 Gln-rich. cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process nucleus DNA bending activity|RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2) 45 Colorectal(47;0.196) Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152) gcagctgtagctgctgcggct 0.577000 46 47 0 0 0.00361006 0 0 DNM3 26052 broad.mit.edu 37 1 171890898 171890898 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:171890898C>T uc001gie.3 + 1 348 c.172C>T c.(172-174)Cct>Tct p.P58S DNM3_uc001gid.4_Missense_Mutation_p.P58S|DNM3_uc009wwb.2_Missense_Mutation_p.P58S|DNM3_uc001gif.3_Missense_Mutation_p.P58S NM_015569 NP_056384 Q9UQ16 DYN3_HUMAN Homo sapiens dynamin 3 (DNM3), transcript variant 1, mRNA. 58 endocytosis|filopodium assembly|synapse assembly dendritic spine|microtubule|perinuclear region of cytoplasm|postsynaptic density GTP binding|GTPase activity|protein binding NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(16)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 37 GGACTTTCTCCCTCGAGGGTC 0.413000 12 6 0 0 0.00116845 0 0 UNC45A 55898 broad.mit.edu 37 15 91486206 91486206 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr15:91486206C>T uc002bqg.3 + 7 1261 c.921C>T c.(919-921)gtC>gtT p.V307V UNC45A_uc002bqd.3_Silent_p.V292V NM_018671 NP_061141 Q9H3U1 UN45A_HUMAN Homo sapiens unc-45 homolog A (C. elegans) (UNC45A), transcript variant 2, mRNA. 307 cell differentiation|muscle organ development nucleus|perinuclear region of cytoplasm protein binding breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 Lung NSC(78;0.0771)|all_lung(78;0.137) Lung(145;0.189) AGGTGGGGGTCTCTGGCCAAG 0.577000 211 224 0 0 0.00361006 0 0 RAG2 5897 broad.mit.edu 37 11 36615435 36615435 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr11:36615435C>T uc021qge.1 - 0 284 c.284G>A c.(283-285)gGa>gAa p.G95E RAG2_uc021qgc.1_Missense_Mutation_p.G95E|RAG2_uc021qgd.1_Missense_Mutation_p.G95E|RAG2_uc001mwv.4_Missense_Mutation_p.G95E|C11orf74_uc001mwx.1_5'Flank|C11orf74_uc001mwy.1_5'Flank|C11orf74_uc001mwz.1_5'Flank|C11orf74_uc010rfe.1_5'Flank|C11orf74_uc010rfd.2_5'Flank NM_001243786 NP_001230715 P55895 RAG2_HUMAN Homo sapiens recombination activating gene 2 (RAG2), transcript variant 4, mRNA. 95 T cell differentiation in thymus|V(D)J recombination|chromatin modification|pre-B cell allelic exclusion|somatic diversification of immunoglobulins nucleus DNA binding|chromatin binding|endonuclease activity|methylated histone residue binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|zinc ion binding breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|pancreas(2)|prostate(1)|skin(4) 32 all_lung(20;0.226) all_hematologic(20;0.00756) TGTTTTCCCTCCATGGATGAT 0.423000 Familial Hemophagocytic Lymphohistiocytosis 98 27 0 0 0.001512 0 0 SCAND3 114821 broad.mit.edu 37 6 28539923 28539923 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr6:28539923G>A uc003nlo.3 - 3 4361 c.3743C>T c.(3742-3744)tCa>tTa p.S1248L NM_052923 NP_443155 Q6R2W3 SCND3_HUMAN Homo sapiens SCAN domain containing 3 (SCAND3), mRNA. 1248 DNA integration|viral reproduction nucleus DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3) 71 tatccaaaatgaaggaagtga 0.373000 43 34 0 0 0.00283554 0 0 FBXO7 25793 broad.mit.edu 37 22 32894166 32894166 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr22:32894166C>T uc003amq.3 + 8 1501 c.1218C>T c.(1216-1218)tcC>tcT p.S406S FBXO7_uc003amt.3_Silent_p.S327S|FBXO7_uc003amu.3_Silent_p.S292S|FBXO7_uc003amv.3_Silent_p.S105S NM_012179 NP_036311 Q9Y3I1 FBX7_HUMAN Homo sapiens F-box protein 7 (FBXO7), transcript variant 1, mRNA. 406 cell death|regulation of protein stability|ubiquitin-dependent protein catabolic process ubiquitin ligase complex protein binding|ubiquitin-protein ligase activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 GAAAAGAATCCCCGAAAGGGC 0.453000 130 31 0 0 0.00283554 0 0 GRM4 2914 broad.mit.edu 37 6 34101012 34101012 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr6:34101012G>A uc003oir.4 - 0 625 c.262C>T c.(262-264)Cgc>Tgc p.R88C GRM4_uc011dsn.2_Missense_Mutation_p.R88C|GRM4_uc010jvh.3_Missense_Mutation_p.R88C|GRM4_uc010jvi.3_5'UTR|GRM4_uc010jvk.1_Missense_Mutation_p.R7C NM_000841 NP_000832 Q14833 GRM4_HUMAN Homo sapiens glutamate receptor, metabotropic 4 (GRM4), mRNA. 88 activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade cytoplasmic vesicle|integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 L-Glutamic Acid(DB00142) TTGTTGATGCGATCCAGGGCG 0.632000 27 28 0 0 0.0024448 0 0 PTPDC1 138639 broad.mit.edu 37 9 96860102 96860102 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr9:96860102C>T uc010mrj.2 + 5 1356 c.1254C>T c.(1252-1254)tcC>tcT p.S418S PTPDC1_uc004auf.2_Silent_p.S364S|PTPDC1_uc004aug.2_Silent_p.S364S|PTPDC1_uc004auh.2_Silent_p.S416S|PTPDC1_uc010mri.2_Silent_p.S416S NM_001253829 NP_001240758 A2A3K4 PTPC1_HUMAN Homo sapiens protein tyrosine phosphatase domain containing 1 (PTPDC1), transcript variant 3, mRNA. 364 protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 32 TGATTTTCTCCAATGAGCAAC 0.488000 7 62 0 0 0.00361006 0 0 PLXNA4 91584 broad.mit.edu 37 7 131870132 131870132 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr7:131870132G>A uc003vra.4 - 15 3313 c.3084C>T c.(3082-3084)atC>atT p.I1028I NM_020911 NP_065962 Q9HCM2 PLXA4_HUMAN Homo sapiens plexin A4 (PLXNA4), transcript variant 1, mRNA. 1028 IPT/TIG 2. integral to membrane|intracellular|plasma membrane p.I1028M(2) NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1) 45 GGTCCTGGTGGATCTTGGCCC 0.557000 94 24 0 0 0.000720815 0 0 KLHL13 90293 broad.mit.edu 37 X 117043651 117043651 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chrX:117043651C>T uc011mtp.2 - 5 1121 c.988G>A c.(988-990)Gtt>Att p.V330I KLHL13_uc004eqk.3_Missense_Mutation_p.V276I|KLHL13_uc004eql.3_Missense_Mutation_p.V327I|KLHL13_uc011mtn.2_Missense_Mutation_p.V167I|KLHL13_uc011mto.2_Missense_Mutation_p.V321I|KLHL13_uc011mtq.2_Missense_Mutation_p.V311I|KLHL13_uc004eqm.3_Missense_Mutation_p.V285I|KLHL13_uc022cde.1_Missense_Mutation_p.V311I NM_001168299 NP_001161775 Q9P2N7 KLH13_HUMAN Homo sapiens kelch-like 13 (Drosophila) (KLHL13), transcript variant 2, mRNA. 327 cytokinesis|mitosis|protein ubiquitination Cul3-RING ubiquitin ligase complex NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 34 GACTGCATAACTGGCTGCATA 0.453000 4 38 0 0 0.00170553 0 0 DZIP1 22873 broad.mit.edu 37 13 96239907 96239907 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr13:96239907G>A uc001vmk.3 - 19 2956 c.2104C>T c.(2104-2106)Cct>Tct p.P702S DZIP1_uc001vmj.3_Missense_Mutation_p.P178S|DZIP1_uc001vml.3_Missense_Mutation_p.P683S NM_198968 NP_945319 Q86YF9 DZIP1_HUMAN Homo sapiens DAZ interacting protein 1 (DZIP1), transcript variant 2, mRNA. 702 germ cell development|multicellular organismal development|spermatogenesis cytoplasm|nucleus nucleic acid binding|protein binding|zinc ion binding endometrium(1)|kidney(1)|large_intestine(20)|lung(11)|ovary(2)|pancreas(1)|skin(1)|stomach(1) 38 all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163) BRCA - Breast invasive adenocarcinoma(86;0.141) GGCGGCACAGGAAGTGGGCCT 0.562000 40 19 0 0 0.00278032 0 0 CUL9 23113 broad.mit.edu 37 6 43166404 43166404 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr6:43166404C>T uc003ouk.3 + 11 2936 c.2861C>T c.(2860-2862)tCc>tTc p.S954F CUL9_uc003oul.3_Missense_Mutation_p.S954F|CUL9_uc010jyk.3_Missense_Mutation_p.S106F NM_015089 NP_055904 Q8IWT3 CUL9_HUMAN Homo sapiens cullin 9 (CUL9), mRNA. 954 ubiquitin-dependent protein catabolic process cullin-RING ubiquitin ligase complex|cytoplasm ATP binding|ubiquitin protein ligase binding|zinc ion binding p.R953*(1) breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4) 92 CTGATTCGATCCCTGGTTGGG 0.612000 88 75 0 0 0.00361006 0 0 CA1 759 broad.mit.edu 37 8 86241982 86241982 + Missense_Mutation SNP G C C TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr8:86241982G>C uc022axc.1 - 5 684 c.605C>G c.(604-606)cCt>cGt p.P202R CA13_uc003ydf.1_Intron|CA1_uc003ydh.3_Missense_Mutation_p.P202R|CA1_uc022axd.1_Missense_Mutation_p.P202R|CA1_uc010mae.2_Missense_Mutation_p.P202R|CA1_uc003ydi.3_Missense_Mutation_p.P202R NM_001164830 NP_001729 P00915 CAH1_HUMAN Homo sapiens carbonic anhydrase I (CA1), transcript variant 5, mRNA. 202 one-carbon metabolic process Golgi apparatus carbonate dehydratase activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1) 13 all_lung(136;4.89e-06) Acetazolamide(DB00819)|Amlodipine(DB00381)|Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Brinzolamide(DB01194)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Dichlorphenamide(DB01144)|Ethinamate(DB01031)|Ethoxzolamide(DB00311)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Levetiracetam(DB01202)|Methazolamide(DB00703)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)|Verapamil(DB00661)|Zonisamide(DB00909) ATAAAGAGGAGGATGAGTCAG 0.483000 8 4 0 0 0.000602214 0 0 OR56B4 196335 broad.mit.edu 37 11 6129374 6129374 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr11:6129374C>T uc010qzx.2 + 0 366 c.366C>T c.(364-366)ctC>ctT p.L122L NM_001005181 NP_001005181 Q8NH76 O56B4_HUMAN Homo sapiens olfactory receptor, family 56, subfamily B, member 4 (OR56B4), mRNA. 122 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|central_nervous_system(1)|endometrium(1)|lung(10)|skin(6)|urinary_tract(2) 21 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;1.31e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135) GCATCTTTCTCTGCATGGCAG 0.483000 40 31 0 0 0.00327116 0 0 LRBA 987 broad.mit.edu 37 4 151186938 151186938 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr4:151186938C>T uc010ipj.3 - 57 8772 c.8528G>A c.(8527-8529)gGa>gAa p.G2843E LRBA_uc010ipi.3_Missense_Mutation_p.G365E|LRBA_uc003ils.4_Missense_Mutation_p.G738E|LRBA_uc003ilt.4_Missense_Mutation_p.G1491E|LRBA_uc003ilu.4_Missense_Mutation_p.G2831E|LRBA_uc003ilr.4_Missense_Mutation_p.G263E NM_006726 NP_006717 P50851 LRBA_HUMAN Homo sapiens LPS-responsive vesicle trafficking, beach and anchor containing (LRBA), transcript variant 2, mRNA. 2843 Golgi apparatus|endoplasmic reticulum|integral to membrane|lysosome|plasma membrane protein binding breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 91 all_hematologic(180;0.151) CACAATGCTTCCTGAAGCCAT 0.463000 7 29 0 0 0.00178596 0 0 DSP 1832 broad.mit.edu 37 6 7581406 7581406 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr6:7581406C>T uc003mxp.1 + 22 5262 c.4983C>T c.(4981-4983)gtC>gtT p.V1661V DSP_uc003mxq.1_Intron|DSP_uc021yle.1_Intron NM_004415 NP_004406 P15924 DESP_HUMAN Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA. 1661 Central fibrous rod domain. cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural constituent of cytoskeleton biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5) 101 Ovarian(93;0.0584) all_hematologic(90;0.236) OV - Ovarian serous cystadenocarcinoma(45;0.000508) CTTCTGAGGTCGAGGCCCTGA 0.547000 121 87 0 0 0.00361006 0 0 TMEM104 54868 broad.mit.edu 37 17 72791704 72791704 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr17:72791704C>T uc002jls.4 + 7 731 c.569C>T c.(568-570)aCc>aTc p.T190I TMEM104_uc010wrf.1_Missense_Mutation_p.T190I|TMEM104_uc010wrg.1_Missense_Mutation_p.T203I|TMEM104_uc010dfx.3_Missense_Mutation_p.T190I NM_017728 NP_060198 Q8NE00 TM104_HUMAN Homo sapiens transmembrane protein 104 (TMEM104), mRNA. 190 integral to membrane NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(5)|ovary(1) 19 all_lung(278;0.23) GAAGCAGACACCAAATACAAT 0.637000 28 7 0 0 0.000274275 0 0 NRD1 4898 broad.mit.edu 37 1 52255268 52255268 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:52255268C>T uc001ctc.4 - 31 3756 c.3434G>A c.(3433-3435)gGg>gAg p.G1145E NRD1_uc009vzb.3_Missense_Mutation_p.G840E|NRD1_uc001cte.3_Missense_Mutation_p.G1013E|NRD1_uc001ctd.4_Missense_Mutation_p.G1077E NM_002525 NP_001229290 O43847 NRDC_HUMAN Homo sapiens nardilysin (N-arginine dibasic convertase) (NRD1), transcript variant 1, mRNA. 1076 DCIIPITDIRAFTTTLNLLPYHKIVK -> SVSSPLLISGL SQQHSTFSPTIK (in Ref. 1). cell migration|cell proliferation|neuromuscular junction development|positive regulation of membrane protein ectodomain proteolysis|proteolysis|regulation of endopeptidase activity cell surface|cytosol epidermal growth factor binding|metalloendopeptidase activity|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1) 27 ACTTCCTGGCCCTCTATGGGC 0.418000 38 53 0 0 0.00361006 0 0 LAMA5 3911 broad.mit.edu 37 20 60887273 60887273 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr20:60887273G>A uc002ycq.3 - 68 9527 c.9460C>T c.(9460-9462)Cac>Tac p.H3154Y LAMA5_uc021wfw.1_Missense_Mutation_p.H3154Y NM_005560 NP_005551 O15230 LAMA5_HUMAN Homo sapiens laminin, alpha 5 (LAMA5), mRNA. 3154 Laminin G-like 3. angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex integrin binding breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 81 Breast(26;1.57e-08) BRCA - Breast invasive adenocarcinoma(19;4.36e-06) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) TGGGCGCTGTGGAAGCCGAAG 0.682000 23 23 0 0 0.000720815 0 0 C3 718 broad.mit.edu 37 19 6707815 6707815 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:6707815C>T uc002mfm.3 - 14 2033 c.1971G>A c.(1969-1971)agG>agA p.R657R NM_000064 NP_000055 P01024 CO3_HUMAN Homo sapiens complement component 3 (C3), mRNA. 657 G-protein coupled receptor protein signaling pathway|complement activation, alternative pathway|complement activation, classical pathway|inflammatory response|positive regulation vascular endothelial growth factor production extracellular space endopeptidase inhibitor activity|receptor binding p.R657S(2) breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3) 72 GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661) CCTCACCTGCCCTCTGGGCGG 0.667000 37 56 0 0 0.00361006 0 0 SCN10A 6336 broad.mit.edu 37 3 38750978 38750978 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr3:38750978C>T uc003ciq.3 - 23 4272 c.4272G>A c.(4270-4272)caG>caA p.Q1424Q NM_006514 NP_006505 Q9Y5Y9 SCNAA_HUMAN Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA. 1424 sensory perception voltage-gated sodium channel complex NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 150 KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945) Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296) TCTTTTTTTTCTGTTGATTGA 0.413000 25 42 0 0 0.00361006 0 0 DIDO1 11083 broad.mit.edu 37 20 61511312 61511312 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr20:61511312G>A uc002ydr.2 - 15 6308 c.5996C>T c.(5995-5997)tCt>tTt p.S1999F DIDO1_uc002yds.2_Missense_Mutation_p.S1999F NM_001193369 NP_149072 Q9BTC0 DIDO1_HUMAN Homo sapiens death inducer-obliterator 1 (DIDO1), transcript variant 5, mRNA. 1999 Pro-rich. apoptosis|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1) 99 Breast(26;5.68e-08) ATTTTTTTCAGAAAAGGGTGC 0.602000 108 151 0 0 0.00361006 0 0 TSIX 9383 broad.mit.edu 37 X 73041479 73041479 + RNA SNP C A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chrX:73041479C>A uc004ebn.2 + 0 c.29440C>A XIST_uc004ebm.1_Non-coding_Transcript Homo sapiens TSIX transcript, XIST antisense RNA (non-protein coding) (TSIX), antisense RNA. GGCAGGTTGCCCTTAAAACAG 0.428000 0 12 4.3838e-07 1.27157e-06 0.00185496 1 0 PCDHGC5 56097 broad.mit.edu 37 5 140710337 140710337 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr5:140710337G>A uc003lji.2 + 0 86 c.86G>A c.(85-87)gGg>gAg p.G29E PCDHGC5_uc011dan.2_Missense_Mutation_p.G29E NM_018912 NP_061735 Q9Y5F6 PCDGM_HUMAN Homo sapiens protocadherin gamma subfamily A, 1 (PCDHGA1), transcript variant 1, mRNA. 29 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 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) GCTGGGGCTGGGAATATTCAC 0.542000 65 31 0 0 0.001512 0 0 TNRC6A 27327 broad.mit.edu 37 16 24803029 24803029 + Nonsense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr16:24803029G>A uc002dmm.3 + 5 3180 c.3066G>A c.(3064-3066)tgG>tgA p.W1022* TNRC6A_uc010bxs.3_Nonsense_Mutation_p.W769*|TNRC6A_uc010vcc.1_Nonsense_Mutation_p.W769*|TNRC6A_uc002dmn.3_Nonsense_Mutation_p.W769*|TNRC6A_uc002dmo.3_Nonsense_Mutation_p.W769* NM_014494 NP_055309 Q8NDV7 TNR6A_HUMAN Homo sapiens trinucleotide repeat containing 6A (TNRC6A), mRNA. 1022 Sufficient for interaction with EIF2C1 and EIF2C4. negative regulation of translation involved in gene silencing by miRNA cytoplasmic mRNA processing body|micro-ribonucleoprotein complex RNA binding|nucleotide binding breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 64 GBM - Glioblastoma multiforme(48;0.0394) TGAACATGTGGAACAAAAACG 0.458000 35 19 0 0 0.00121646 0 0 PRG4 10216 broad.mit.edu 37 1 186276646 186276646 + Missense_Mutation SNP A C C TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:186276646A>C uc001gru.4 + 6 1846 c.1795A>C c.(1795-1797)Aag>Cag p.K599Q MIR548F1_uc021pgf.1_Intron|PRG4_uc001grt.4_Missense_Mutation_p.K558Q|PRG4_uc009wyl.3_Missense_Mutation_p.K506Q|PRG4_uc009wym.3_Missense_Mutation_p.K465Q|PRG4_uc010poo.2_Intron NM_005807 NP_005798 Q92954 PRG4_HUMAN Homo sapiens proteoglycan 4 (PRG4), transcript variant A, mRNA. 599 59 X 8 AA repeats of K-X-P-X-P-T-T-X. cell proliferation|immune response extracellular region polysaccharide binding|protein binding|scavenger receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1) 102 CACCACCAAGAAGCCTGCACC 0.647000 12 21 0 0 0.00395357 0 0 HKR1 284459 broad.mit.edu 37 19 37854458 37854458 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:37854458C>T uc002ogb.3 + 5 2030 c.1761C>T c.(1759-1761)ggC>ggT p.G587G HKR1_uc002ofx.3_Silent_p.G303G|HKR1_uc002ofy.3_Silent_p.G303G|HKR1_uc002oga.3_Silent_p.G569G|HKR1_uc010xto.2_Silent_p.G569G|HKR1_uc002ogc.3_Silent_p.G568G|HKR1_uc010xtp.2_Silent_p.G526G|HKR1_uc002ogd.3_Silent_p.G526G NM_181786 NP_861451 P10072 HKR1_HUMAN Homo sapiens HKR1, GLI-Kruppel zinc finger family member (HKR1), mRNA. 587 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 29 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) GTGGGCAAGGCTTTTGTGCTA 0.552000 21 16 0 0 0.000422831 0 0 ARHGAP17 55114 broad.mit.edu 37 16 24942241 24942241 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr16:24942241G>A uc002dnb.3 - 18 2472 c.2379C>T c.(2377-2379)acC>acT p.T793T ARHGAP17_uc002dmw.3_Silent_p.T55T|ARHGAP17_uc002dmy.3_Silent_p.T238T|ARHGAP17_uc002dmz.3_Silent_p.T317T|ARHGAP17_uc002dna.3_Silent_p.T520T|ARHGAP17_uc002dnc.3_Silent_p.T715T|ARHGAP17_uc010vcf.2_Silent_p.T536T NM_001006634 NP_001006635 Q68EM7 RHG17_HUMAN Homo sapiens Rho GTPase activating protein 17 (ARHGAP17), transcript variant 1, mRNA. 793 Pro-rich. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|tight junction GTPase activator activity|SH3 domain binding breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|urinary_tract(2) 30 GBM - Glioblastoma multiforme(48;0.0407) GTCTCGGTAAGGTTCCAGCAT 0.632000 55 26 0 0 0.000720815 0 0 ADAM32 203102 broad.mit.edu 37 8 39080710 39080710 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr8:39080710G>A uc003xmt.4 + 13 1723 c.1478G>A c.(1477-1479)gGa>gAa p.G493E ADAM32_uc011lch.2_Missense_Mutation_p.G394E|ADAM32_uc003xmu.4_Missense_Mutation_p.G387E|ADAM32_uc003xmv.3_Missense_Mutation_p.E15K NM_145004 NP_659441 Q8TC27 ADA32_HUMAN Homo sapiens ADAM metallopeptidase domain 32 (ADAM32), mRNA. 493 Cys-rich. proteolysis integral to membrane metalloendopeptidase activity|zinc ion binding breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2) 31 all_cancers(7;3e-05)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00771)|Breast(189;0.0503) LUSC - Lung squamous cell carcinoma(45;6.2e-07)|Colorectal(1;0.00699)|READ - Rectum adenocarcinoma(1;0.146) TGTTATGACGGAGACTGCCAT 0.343000 11 10 0 0 0.000978159 0 0 CNGB3 54714 broad.mit.edu 37 8 87683209 87683209 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr8:87683209C>T uc003ydx.3 - 3 504 c.456G>A c.(454-456)gaG>gaA p.E152E CNGB3_uc010maj.3_Silent_p.E14E NM_019098 NP_061971 Q9NQW8 CNGB3_HUMAN Homo sapiens cyclic nucleotide gated channel beta 3 (CNGB3), mRNA. 152 signal transduction|visual perception integral to membrane cGMP binding NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 80 AGAGATCTCCCTCTACCAACT 0.498000 128 125 0 0 0.00361006 0 0 COL22A1 169044 broad.mit.edu 37 8 139833474 139833474 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr8:139833474G>A uc003yvd.3 - 6 1597 c.1150C>T c.(1150-1152)Ctg>Ttg p.L384L NM_152888 NP_690848 Q8NFW1 COMA1_HUMAN Homo sapiens collagen, type XXII, alpha 1 (COL22A1), mRNA. 384 TSP N-terminal. cell adhesion collagen|cytoplasm structural molecule activity p.A383E(1)|p.A383A(1) breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4) 211 all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0517) GTCTGCACCAGCGCACAGTCA 0.572000 HNSCC(7;0.00092) 64 26 0 0 0.000878237 0 0 C7orf63 79846 broad.mit.edu 37 7 89891300 89891300 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr7:89891300C>T uc010lep.3 + 3 537 c.286C>T c.(286-288)Ctg>Ttg p.L96L C7orf63_uc003ukf.2_Non-coding_Transcript|C7orf63_uc003ukg.2_5'UTR|C7orf63_uc011khj.2_Silent_p.L96L|C7orf63_uc010leo.2_Silent_p.L96L NM_001039706 NP_001034795 A5D8W1 CG063_HUMAN Homo sapiens chromosome 7 open reading frame 63 (C7orf63), transcript variant 1, mRNA. 96 binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|prostate(3) 37 AATTCTGAATCTGTGTTCAGG 0.244000 87 22 0 0 0.000720815 0 0 PTGS1 5742 broad.mit.edu 37 9 125140259 125140259 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr9:125140259C>T uc004bmg.1 + 2 311 c.176C>T c.(175-177)aCc>aTc p.T59I PTGS1_uc011lys.1_Missense_Mutation_p.T34I|PTGS1_uc010mwb.1_5'UTR|PTGS1_uc004bmf.1_Missense_Mutation_p.T59I|PTGS1_uc004bmh.1_5'UTR|PTGS1_uc011lyt.1_5'UTR NM_000962 NP_000953 P23219 PGH1_HUMAN Homo sapiens prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase) (PTGS1), transcript variant 1, mRNA. 59 EGF-like. cyclooxygenase pathway|hormone biosynthetic process|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process Golgi apparatus|endoplasmic reticulum membrane|microsome|plasma membrane heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity large_intestine(3)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 8 Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dipyrone(DB04817)|Etodolac(DB00749)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Mesalazine(DB00244)|Minoxidil(DB00350)|Nabumetone(DB00461)|Naproxen(DB00788)|Phenacetin(DB03783)|Piroxicam(DB00554)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Tolmetin(DB00500)|gamma-Homolinolenic acid(DB00154) TGTGACTGCACCCGCACGGGC 0.607000 3 29 0 0 0.001512 0 0 C2orf65 130951 broad.mit.edu 37 2 74803660 74803660 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:74803660G>A uc002smy.3 - 5 972 c.855C>T c.(853-855)gaC>gaT p.D285D C2orf65_uc010ysa.2_Silent_p.D285D|C2orf65_uc002smz.2_Silent_p.D285D|C2orf65_uc010ffp.3_Silent_p.D3D NM_138804 NP_620159 Q8TC57 CB065_HUMAN Homo sapiens chromosome 2 open reading frame 65 (C2orf65), mRNA. 285 RNA processing|chromatin assembly|female gamete generation|spermatogenesis integral to membrane endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 21 CTCCTTTAGGGTCATCCATTC 0.512000 27 27 0 0 0.000878237 0 0 RHOBTB3 22836 broad.mit.edu 37 5 95116051 95116051 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr5:95116051C>T uc003klm.3 + 8 1915 c.1378C>T c.(1378-1380)Ctg>Ttg p.L460L NM_014899 NP_055714 O94955 RHBT3_HUMAN Homo sapiens Rho-related BTB domain containing 3 (RHOBTB3), mRNA. 460 BTB 2.|Interaction with Rab9. retrograde transport, endosome to Golgi Golgi apparatus ATP binding|ATPase activity|Rab GTPase binding breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|skin(1) 16 all_cancers(142;2.58e-06)|all_epithelial(76;4.19e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0164)|Colorectal(57;0.0846)|Breast(839;0.198) all cancers(79;8.79e-16) AAAGAGTGTCCTGATTCCCGT 0.458000 19 27 0 0 0.000878237 0 0 LOC645752 645752 broad.mit.edu 37 15 78208916 78208916 + Missense_Mutation SNP C G G rs56290535 by1000genomes TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr15:78208916C>G uc010bky.2 - 13 1581 c.817G>C c.(817-819)Gaa>Caa p.E273Q LOC645752_uc010umq.1_5'Flank|DQ572823_uc002bcw.1_5'Flank|DQ582073_uc002bcx.1_5'Flank Homo sapiens golgi autoantigen, golgin subfamily a, 6 pseudogene (LOC645752), non-coding RNA. TCCAGATGTTCTCCTCCATCT 0.627000 82 4 0 0 0.000602214 0 0 CADPS2 93664 broad.mit.edu 37 7 122091457 122091457 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr7:122091457G>A uc022akp.1 - 13 2669 c.2247C>T c.(2245-2247)tcC>tcT p.S749S CADPS2_uc003vkg.4_Silent_p.S450S|CADPS2_uc022akq.1_3'UTR|CADPS2_uc010lkq.3_Silent_p.S750S|CADPS2_uc022akr.1_Silent_p.S753S NM_001167940 NP_001161412 Q86UW7 CAPS2_HUMAN Homo sapiens Ca++-dependent secretion activator 2 (CADPS2), transcript variant 3, mRNA. 753 exocytosis|protein transport cell junction|cytoplasmic vesicle membrane|synapse lipid binding|metal ion binding breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2) 43 TTTCTAAAAGGGAAGAGAGTC 0.303000 39 13 0 0 0.00185496 0 0 MTSS1 9788 broad.mit.edu 37 8 125565768 125565768 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr8:125565768C>T uc003yrl.2 - 14 2279 c.1745G>A c.(1744-1746)gGa>gAa p.G582E NDUFB9_uc011lim.1_Intron|MTSS1_uc003yrh.2_Missense_Mutation_p.G227E|MTSS1_uc011lin.1_Missense_Mutation_p.G352E|MTSS1_uc011lio.1_Missense_Mutation_p.G468E|MTSS1_uc003yri.2_Missense_Mutation_p.G296E|MTSS1_uc003yrj.2_Missense_Mutation_p.G553E|MTSS1_uc003yrk.2_Missense_Mutation_p.G578E NM_014751 NP_055566 O43312 MTSS1_HUMAN Homo sapiens metastasis suppressor 1 (MTSS1), mRNA. 578 actin cytoskeleton organization|cell adhesion|cellular component movement|filopodium assembly|transmembrane receptor protein tyrosine kinase signaling pathway actin cytoskeleton|endocytic vesicle|ruffle SH3 domain binding|actin monomer binding|cytoskeletal adaptor activity|receptor binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1) 37 Ovarian(258;0.00438)|all_neural(195;0.00459)|Hepatocellular(40;0.108) STAD - Stomach adenocarcinoma(47;0.00288) CATAGCAGGTCCCAGGGTGGT 0.607000 47 24 0 0 0.00278032 0 0 RABL3 285282 broad.mit.edu 37 3 120424922 120424922 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr3:120424922G>A uc003edx.3 - 3 338 c.308C>T c.(307-309)tCc>tTc p.S103F NM_173825 NP_776186 Q5HYI8 RABL3_HUMAN Homo sapiens RAB, member of RAS oncogene family-like 3 (RABL3), mRNA. 103 Small GTPase-like. small GTPase mediated signal transduction GTP binding breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10) 17 GBM - Glioblastoma multiforme(114;0.151) CAAGTTTTGGGAGGACTTCTT 0.388000 61 61 0 0 0.00361006 0 0 GATM 2628 broad.mit.edu 37 15 45657033 45657033 + Nonsense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr15:45657033C>T uc001zvc.3 - 6 1333 c.1004G>A c.(1003-1005)tGg>tAg p.W335* GATM_uc001zvb.3_Nonsense_Mutation_p.W206*|GATM_uc010uev.1_Nonsense_Mutation_p.W388* NM_001482 NP_001473 P50440 GATM_HUMAN Homo sapiens glycine amidinotransferase (L-arginine:glycine amidinotransferase) (GATM), nuclear gene encoding mitochondrial protein, mRNA. 335 creatine biosynthetic process mitochondrial inner membrane|mitochondrial intermembrane space glycine amidinotransferase activity|protein binding biliary_tract(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(2)|skin(1)|urinary_tract(1) 15 all_cancers(109;1.25e-09)|all_epithelial(112;5.56e-08)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027) all cancers(107;4.87e-16)|GBM - Glioblastoma multiforme(94;1.97e-06) Creatine(DB00148)|Glycine(DB00145)|L-Ornithine(DB00129) AATGATAGTCCATCCTGCTTT 0.338000 24 17 0 0 0.00121646 0 0 B3GAT3 26229 broad.mit.edu 37 11 62389381 62389381 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr11:62389381G>A uc001ntw.3 - 0 267 c.39C>T c.(37-39)ttC>ttT p.F13F B3GAT3_uc001ntx.3_Non-coding_Transcript|B3GAT3_uc009ynz.3_5'UTR|B3GAT3_uc010rlz.2_Silent_p.F13F NM_012200 NP_036332 O94766 B3GA3_HUMAN Homo sapiens beta-1,3-glucuronyltransferase 3 (glucuronosyltransferase I) (B3GAT3), mRNA. 13 glycosaminoglycan biosynthetic process Golgi membrane|integral to membrane galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|manganese ion binding endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)|urinary_tract(1) 12 TCGACACCAGGAAGTAGGCGA 0.751000 26 35 0 0 0.00285205 0 0 MUC16 94025 broad.mit.edu 37 19 9075994 9075994 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:9075994G>A uc002mkp.3 - 2 11656 c.11452C>T c.(11452-11454)Ccc>Tcc p.P3818S NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 3819 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 GTGGTGGTGGGAAGCTGAGTG 0.507000 155 59 0 0 0.00361006 0 0 FCGR3B 2215 broad.mit.edu 37 1 161594362 161594362 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:161594362C>T uc009wul.3 - 4 1013 c.753G>A c.(751-753)atG>atA p.M251I FCGR3B_uc021pdo.1_Missense_Mutation_p.M215I NM_001244753 NP_001231682 O75015 FCG3B_HUMAN Homo sapiens Fc fragment of IgG, low affinity IIIb, receptor (CD16b) (FCGR3B), transcript variant 1, mRNA. 215 immune response anchored to membrane|extracellular region|plasma membrane IgG binding|receptor activity central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1) 18 all_cancers(52;4.89e-16)|all_hematologic(112;0.0207) BRCA - Breast invasive adenocarcinoma(70;0.00376) Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072) AAAGGAGTACCATCACCAAGC 0.413000 26 41 0 0 0.0025221 0 0 TRBV7-6 28592 broad.mit.edu 37 7 142139743 142139743 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr7:142139743C>T uc003vyt.3 - 0 73 c.28G>A c.(28-30)Gtc>Atc p.V10I TRBV2_uc011kro.1_Intron|TRBV5-1_uc011krr.1_Intron|TRBV7-6_uc011krv.1_5'Flank SubName: Full=V_segment translation product; Flags: Fragment; AAACCCAGGACCACCCAGCAT 0.532000 27 87 0 0 0.00361006 0 0 SDK1 221935 broad.mit.edu 37 7 4051763 4051763 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr7:4051763G>A uc003smx.3 + 15 2455 c.2316G>A c.(2314-2316)ccG>ccA p.P772P SDK1_uc010kso.3_Silent_p.P48P NM_152744 NP_689957 Q7Z5N4 SDK1_HUMAN Homo sapiens sidekick cell adhesion molecule 1 (SDK1), transcript variant 1, mRNA. 772 Fibronectin type-III 2. cell adhesion integral to membrane p.P772L(1)|p.P771R(1)|p.P772Q(1) 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) GTGCTCCCCCGAAAAATATAG 0.522000 115 103 0 0 0.00361006 0 0 CDH7 1005 broad.mit.edu 37 18 63547753 63547753 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr18:63547753G>A uc002lkb.3 + 11 2407 c.1981G>A c.(1981-1983)Gag>Aag p.E661K CDH7_uc002ljz.3_Missense_Mutation_p.E661K NM_004361 NP_387450 Q9ULB5 CADH7_HUMAN Homo sapiens cadherin 7, type 2 (CDH7), transcript variant b, mRNA. 661 adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2) 80 Esophageal squamous(42;0.129) CGGGGGAGAGGAGGACACGGA 0.488000 58 28 0 0 0.00127121 0 0 PCDH15 65217 broad.mit.edu 37 10 55700729 55700729 + Silent SNP A C C TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr10:55700729A>C uc010qhy.1 - 24 3539 c.3144T>G c.(3142-3144)ccT>ccG p.P1048P PCDH15_uc010qhq.2_Silent_p.P1048P|PCDH15_uc010qhr.2_Silent_p.P1043P|PCDH15_uc021pqv.1_Silent_p.P1043P|PCDH15_uc021pqw.1_Silent_p.P1055P|PCDH15_uc010qht.2_Silent_p.P1050P|PCDH15_uc021pqx.1_Silent_p.P1043P|PCDH15_uc001jjv.1_Intron|PCDH15_uc021pqy.1_Silent_p.P1043P|PCDH15_uc021pqz.1_Silent_p.P1021P|PCDH15_uc010qhv.1_Silent_p.P1043P|PCDH15_uc010qhw.1_Silent_p.P1006P|PCDH15_uc010qhx.1_Silent_p.P972P|PCDH15_uc010qhz.1_Silent_p.P1043P|PCDH15_uc010qia.1_Silent_p.P1021P|PCDH15_uc001jju.1_Silent_p.P1043P|PCDH15_uc010qib.1_Silent_p.P1021P NM_001142763 NP_001136235 Q96QU1 PCD15_HUMAN Homo sapiens protocadherin-related 15 (PCDH15), transcript variant A, mRNA. 1043 Cadherin 10. equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1) 237 Melanoma(3;0.117)|Lung SC(717;0.238) CACTTACTGGAGGAGGTCTGC 0.348000 HNSCC(58;0.16) 21 35 0 0 0.000953801 0 0 CENPB 1059 broad.mit.edu 37 20 3765730 3765730 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr20:3765730G>A uc002wjk.3 - 0 1608 c.1401C>T c.(1399-1401)tcC>tcT p.S467S CDC25B_uc010zqk.2_5'Flank|CDC25B_uc010zql.2_5'Flank|CDC25B_uc010zqm.2_5'Flank NM_001810 NP_001801 P07199 CENPB_HUMAN Homo sapiens centromere protein B, 80kDa (CENPB), mRNA. 467 regulation of transcription, DNA-dependent chromosome, centromeric region|nucleus chromatin binding|satellite DNA binding kidney(1)|large_intestine(2)|lung(4)|skin(1) 8 AGCCCTCCGAGGAGCTCTCCT 0.612000 20 16 0 0 0.00121646 0 0 OR10T2 128360 broad.mit.edu 37 1 158368976 158368976 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:158368976G>A uc010pih.2 - 0 281 c.281C>T c.(280-282)tCc>tTc p.S94F NM_001004475 NP_001004475 Q8NGX3 O10T2_HUMAN Homo sapiens olfactory receptor, family 10, subfamily T, member 2 (OR10T2), mRNA. 94 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 all_hematologic(112;0.0378) GGCCATGAAGGAGATGGTCTT 0.478000 21 24 0 0 0.00332997 0 0 NDRG1 10397 broad.mit.edu 37 8 134296509 134296509 + Silent SNP A G G TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr8:134296509A>G uc003yuh.2 - 1 632 c.46T>C c.(46-48)Ttg>Ctg p.L16L NDRG1_uc003yug.2_Silent_p.L16L|NDRG1_uc010mee.2_5'UTR|NDRG1_uc010mef.2_Intron|NDRG1_uc011ljh.1_5'UTR|NDRG1_uc011lji.1_Silent_p.L16L NM_001135242 NP_006087 Q92597 NDRG1_HUMAN Homo sapiens N-myc downstream regulated 1 (NDRG1), transcript variant 1, mRNA. 16 cellular response to hypoxia|response to metal ion cytoplasm|microtubule cytoskeleton|nucleus|plasma membrane protein binding NDRG1/ERG(5) endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(4)|prostate(1)|skin(1) 17 all_epithelial(106;4.26e-24)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0107) TTCTCCACCAAAGGCTTCACC 0.547000 T ERG prostate 42 15 0 0 0.00074312 0 0 TREML2 79865 broad.mit.edu 37 6 41166018 41166018 + Silent SNP G T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr6:41166018G>T uc010jxm.1 - 1 384 c.205C>A c.(205-207)Cga>Aga p.R69R NM_024807 NP_079083 Q5T2D2 TRML2_HUMAN Homo sapiens triggering receptor expressed on myeloid cells-like 2 (TREML2), mRNA. 69 Ig-like V-type. T cell activation cell surface|integral to membrane|plasma membrane protein binding|receptor activity p.R128R(2) breast(1)|central_nervous_system(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1) 18 Ovarian(28;0.0418)|Colorectal(47;0.196) ACCCAGACTCGGGCAAAGCCA 0.577000 136 7 0.00307968 0.00884575 0.00307968 1 0 FLNC 2318 broad.mit.edu 37 7 128483517 128483517 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr7:128483517G>A uc003vnz.4 + 17 2906 c.2697G>A c.(2695-2697)aaG>aaA p.K899K FLNC_uc003voa.4_Silent_p.K899K NM_001458 NP_001449 Q14315 FLNC_HUMAN Homo sapiens filamin C, gamma (FLNC), transcript variant 1, mRNA. 899 cell junction assembly cytoskeleton|cytosol|plasma membrane|sarcomere actin binding biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2) 128 GAGCCGGCAAGGCCAAGCTGG 0.582000 37 17 0 0 0.00074312 0 0 NCCRP1 342897 broad.mit.edu 37 19 39691087 39691087 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:39691087G>A uc002okq.1 + 4 669 c.650G>A c.(649-651)cGa>cAa p.R217Q NM_001001414 NP_001001414 Q6ZVX7 NCRP1_HUMAN Homo sapiens non-specific cytotoxic cell receptor protein 1 homolog (zebrafish) (NCCRP1), mRNA. 217 FBA. protein catabolic process p.R217R(1) kidney(1)|large_intestine(2)|liver(1)|lung(4)|ovary(1)|urinary_tract(1) 10 GTGGCCCCCCGAACTTCTGGG 0.667000 44 38 0 0 0.0025221 0 0 OR2K2 26248 broad.mit.edu 37 9 114089881 114089881 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr9:114089881C>T uc011lwp.2 - 0 833 c.833G>A c.(832-834)gGa>gAa p.G278E NM_205859 NP_995581 Q8NGT1 OR2K2_HUMAN Homo sapiens olfactory receptor, family 2, subfamily K, member 2 (OR2K2), mRNA. 307 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2) 20 GGTAAGCACTCCGTAAAGCAA 0.378000 4 36 0 0 0.000814825 0 0 ZNF268 10795 broad.mit.edu 37 12 133764608 133764608 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr12:133764608C>T uc010tch.2 + 2 390 c.184C>T c.(184-186)Cta>Tta p.L62L ZNF268_uc010tbv.1_5'UTR|ZNF268_uc010tbz.1_5'UTR|ZNF268_uc010tcc.1_Intron|ZNF268_uc010tcd.1_5'UTR|ZNF268_uc010tbx.2_Intron|ZNF268_uc010tbw.2_Silent_p.L62L|ZNF268_uc010tce.2_Intron|ZNF268_uc010tcg.2_Silent_p.L62L|ZNF268_uc010tca.2_Intron|ZNF268_uc010tcf.2_Silent_p.L62L|ZNF268_uc010tcb.2_Silent_p.L62L|ZNF268_uc021rgu.1_5'UTR NM_001165881 NP_001159354 Q14587 ZN268_HUMAN Homo sapiens zinc finger protein 268 (ZNF268), transcript variant 2, mRNA. 62 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|breast(3)|endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(1) 24 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_cancers(7;0.000215)|all_epithelial(31;0.096) OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05) AGAGAAAGTCCTAGAGTGGCT 0.463000 4 5 0 0 0.00198382 0 0 SCARF1 8578 broad.mit.edu 37 17 1548500 1548500 + Nonsense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr17:1548500C>T uc002fsz.1 - 1 185 c.135G>A c.(133-135)tgG>tgA p.W45* SCARF1_uc002fsy.1_Nonsense_Mutation_p.W45*|SCARF1_uc002fta.1_Non-coding_Transcript|SCARF1_uc010cjv.1_Nonsense_Mutation_p.W45* NM_003693 NP_003684 Q14162 SREC_HUMAN Homo sapiens scavenger receptor class F, member 1 (SCARF1), transcript variant 1, mRNA. 45 cell adhesion|neuron remodeling|positive regulation of axon regeneration|receptor-mediated endocytosis integral to membrane low-density lipoprotein particle binding|scavenger receptor activity cervix(1)|endometrium(3)|kidney(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 UCEC - Uterine corpus endometrioid carcinoma (25;0.0822) CCTTCTGCCTCCAGCCTGCGC 0.622000 3 93 0 0 0.00361006 0 0 ZFHX3 463 broad.mit.edu 37 16 72829102 72829102 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr16:72829102G>A uc002fck.3 - 8 8152 c.7479C>T c.(7477-7479)ccC>ccT p.P2493P ZFHX3_uc002fcl.3_Silent_p.P1579P NM_006885 NP_008816 Q15911 ZFHX3_HUMAN Homo sapiens zinc finger homeobox 3 (ZFHX3), transcript variant A, mRNA. 2493 muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation transcription factor complex enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11) 153 Ovarian(137;0.13) ACTGGGGTAAGGGGCACTGTG 0.637000 22 40 0 0 0.00222228 0 0 CACNG3 10368 broad.mit.edu 37 16 24358083 24358083 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr16:24358083C>T uc002dmf.3 + 1 1442 c.240C>T c.(238-240)atC>atT p.I80I NM_006539 NP_006530 O60359 CCG3_HUMAN Homo sapiens calcium channel, voltage-dependent, gamma subunit 3 (CACNG3), mRNA. 80 regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex voltage-gated calcium channel activity NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2) 40 GBM - Glioblastoma multiforme(48;0.0809) GCAAGAAAATCGATCACTTCC 0.582000 32 9 0 0 0.000274275 0 0 TP53TG5 27296 broad.mit.edu 37 20 44003783 44003783 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr20:44003783C>T uc002xny.3 - 3 745 c.664G>A c.(664-666)Gcg>Acg p.A222T SYS1_uc002xnw.2_3'UTR|DBNDD2_uc002xnx.3_Intron NM_014477 NP_055292 Q9Y2B4 T53G5_HUMAN Homo sapiens TP53 target 5 (TP53TG5), mRNA. 222 intracellular signal transduction|negative regulation of cell growth cytoplasm|nucleus central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|prostate(2)|upper_aerodigestive_tract(1) 12 ACCCTGGGCGCCGGGAGGTGG 0.602000 38 48 0 0 0.00361006 0 0 SOX8 30812 broad.mit.edu 37 16 1035151 1035151 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr16:1035151C>T uc002ckn.3 + 2 1221 c.1106C>T c.(1105-1107)cCg>cTg p.P369L NM_014587 NP_055402 P57073 SOX8_HUMAN Homo sapiens SRY (sex determining region Y)-box 8 (SOX8), mRNA. 369 Sertoli cell development|adipose tissue development|enteric nervous system development|fat cell differentiation|in utero embryonic development|metanephric nephron tubule formation|morphogenesis of a branching epithelium|negative regulation of apoptosis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|neural crest cell migration|oligodendrocyte differentiation|osteoblast differentiation|peripheral nervous system development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of gliogenesis|positive regulation of osteoblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone levels|renal vesicle induction|retinal rod cell differentiation|signal transduction|spermatogenesis|ureter morphogenesis cytoplasm|nucleus central_nervous_system(1)|kidney(1)|lung(5)|prostate(2)|skin(1) 10 Hepatocellular(780;0.00308) AGCGCCAccccggccgccccc 0.731000 4 12 0 0 0.00185496 0 0 CDO1 1036 broad.mit.edu 37 5 115146962 115146962 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr5:115146962C>T uc003krg.3 - 2 610 c.299G>A c.(298-300)gGa>gAa p.G100E NM_001801 NP_001792 Q16878 CDO1_HUMAN Homo sapiens cysteine dioxygenase, type I (CDO1), mRNA. 100 inflammatory response|sulfur amino acid biosynthetic process|taurine biosynthetic process cytosol cysteine dioxygenase activity p.G100R(1) breast(1)|endometrium(1)|large_intestine(3)|lung(1)|skin(5) 11 all_cancers(142;0.0046)|all_epithelial(76;0.000161)|Prostate(80;0.0132)|Ovarian(225;0.0776) OV - Ovarian serous cystadenocarcinoma(64;7.8e-08)|Epithelial(69;7.32e-07)|all cancers(49;3.24e-05) L-Cysteine(DB00151)|NADH(DB00157) CTTTAGATTTCCCTGTAGCAT 0.408000 62 82 0 0 0.00361006 0 0 TRHR 7201 broad.mit.edu 37 8 110100064 110100064 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr8:110100064G>A uc003ymz.4 + 0 412 c.323G>A c.(322-324)gGa>gAa p.G108E NM_003301 NP_003292 P34981 TRFR_HUMAN Homo sapiens thyrotropin-releasing hormone receptor (TRHR), mRNA. 108 integral to plasma membrane thyrotropin-releasing hormone receptor activity endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(12)|prostate(4)|skin(4)|urinary_tract(1) 37 OV - Ovarian serous cystadenocarcinoma(57;2.3e-11) CAGTATTTGGGAATTAATGCA 0.463000 48 85 0 0 0.00361006 0 0 CPA5 93979 broad.mit.edu 37 7 130007368 130007368 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr7:130007368C>T uc010lmd.1 + 11 1614 c.994C>T c.(994-996)Cct>Tct p.P332S CPA5_uc003vps.2_Missense_Mutation_p.P332S|CPA5_uc003vpt.2_Missense_Mutation_p.P332S|CPA5_uc010lme.1_Missense_Mutation_p.P332S|CPA5_uc003vpu.1_Missense_Mutation_p.P332S|AK097910_uc003vpv.1_Non-coding_Transcript NM_001127441 NP_525124 Q8WXQ8 CBPA5_HUMAN Homo sapiens carboxypeptidase A5 (CPA5), transcript variant 2, mRNA. 332 proteolysis extracellular region metallocarboxypeptidase activity|zinc ion binding NS(2)|breast(2)|endometrium(2)|large_intestine(7)|lung(4)|ovary(3)|pancreas(1)|skin(2) 23 Melanoma(18;0.0435) GCTTATGTACCCTTACGGCCG 0.542000 94 44 0 0 0.00361006 0 0 TIMD4 91937 broad.mit.edu 37 5 156375464 156375464 + Nonsense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr5:156375464C>T uc003lwh.2 - 4 864 c.807G>A c.(805-807)tgG>tgA p.W269* TIMD4_uc010jii.2_Intron NM_138379 NP_612388 Q96H15 TIMD4_HUMAN Homo sapiens T-cell immunoglobulin and mucin domain containing 4 (TIMD4), transcript variant 1, mRNA. 269 Ser-rich. integral to membrane NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2) 37 Renal(175;0.00488) Medulloblastoma(196;0.0523)|all_neural(177;0.21) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) CACTCGTTTTCCACATTGACA 0.353000 145 70 0 0 0.00361006 0 0 SLC9C2 284525 broad.mit.edu 37 1 173523904 173523904 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:173523904G>A uc001giz.2 - 10 1688 c.1265C>T c.(1264-1266)tCa>tTa p.S422L SLC9C2_uc009wwe.2_Intron|SLC9C2_uc010pmq.1_Non-coding_Transcript NM_178527 NP_848622 Q5TAH2 S9A11_HUMAN Homo sapiens solute carrier family 9, member 11 (SLC9A11), mRNA. 422 sodium ion transport integral to membrane ion channel activity|solute:hydrogen antiporter activity CATCACGTATGAATTTATTCC 0.323000 121 40 0 0 0.00361006 0 0 KLKB1 3818 broad.mit.edu 37 4 187172454 187172455 + Missense_Mutation DNP CC TT TT TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr4:187172454_187172455CC>TT uc003iyy.3 + 7 911_912 c.840_841CC>TT c.(838-843)agcctt>agTTtt p.L281F KLKB1_uc011clc.2_Missense_Mutation_p.L79F|KLKB1_uc011cld.2_Missense_Mutation_p.L243F NM_000892 NP_000883 P03952 KLKB1_HUMAN Homo sapiens kallikrein B, plasma (Fletcher factor) 1 (KLKB1), mRNA. 281 Apple 3. Factor XII activation|blood coagulation, intrinsic pathway|fibrinolysis|plasminogen activation|positive regulation of fibrinolysis cytoplasm|extracellular space|plasma membrane serine-type endopeptidase activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 40 all_cancers(14;1.55e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243) OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168) CTGGATATAGCCTTTTAACCTG 0.297000 15 35 0 0 6.4e-05 0 0 ADCY1 107 broad.mit.edu 37 7 45632475 45632475 + Nonsense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr7:45632475C>T uc003tne.4 + 1 775 c.757C>T c.(757-759)Cga>Tga p.R253* ADCY1_uc003tnd.3_Nonsense_Mutation_p.R28* NM_021116 NP_066939 Q08828 ADCY1_HUMAN Homo sapiens adenylate cyclase 1 (brain) (ADCY1), mRNA. 253 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 71 Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640) CATTGAGGACCGACTGAGGCT 0.597000 35 40 0 0 0.000953801 0 0 TTC13 79573 broad.mit.edu 37 1 231044507 231044507 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:231044507C>T uc001huf.4 - 21 2461 c.2419G>A c.(2419-2421)Ggt>Agt p.G807S TTC13_uc001hug.4_Missense_Mutation_p.G753S|TTC13_uc009xfj.3_Non-coding_Transcript|TTC13_uc009xfk.2_Missense_Mutation_p.G696S NM_024525 NP_078801 Q8NBP0 TTC13_HUMAN Homo sapiens tetratricopeptide repeat domain 13 (TTC13), transcript variant 1, mRNA. 807 binding central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 39 Breast(184;0.0871)|Ovarian(103;0.183) Prostate(94;0.167) COAD - Colon adenocarcinoma(196;0.243) GCCTCTGAACCAGGGGCTGTC 0.448000 32 16 0 0 0.000958276 0 0 KPRP 448834 broad.mit.edu 37 1 152732973 152732973 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:152732973C>T uc001fal.1 + 1 967 c.909C>T c.(907-909)ccC>ccT p.P303P KPRP_uc021ozf.1_Silent_p.P303P NM_001025231 NP_001020402 Q5T749 KPRP_HUMAN Homo sapiens keratinocyte proline-rich protein (KPRP), mRNA. 303 Pro-rich. 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) GCTCTGAACCCATATATAACA 0.597000 36 11 0 0 0.00244969 0 0 PAPOLB 56903 broad.mit.edu 37 7 4900726 4900726 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr7:4900726G>A uc003snk.3 - 0 900 c.716C>T c.(715-717)tCc>tTc p.S239F RADIL_uc003sng.1_Intron|RADIL_uc003snj.1_Intron|RADIL_uc011jwd.1_Intron NM_020144 NP_064529 Q9NRJ5 PAPOB_HUMAN Homo sapiens poly(A) polymerase beta (testis specific) (PAPOLB), mRNA. 238 RNA polyadenylation|mRNA processing|transcription, DNA-dependent nucleus ATP binding|RNA binding|metal ion binding|polynucleotide adenylyltransferase activity kidney(1)|large_intestine(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1) 14 Ovarian(82;0.0175) UCEC - Uterine corpus endometrioid carcinoma (126;0.089)|OV - Ovarian serous cystadenocarcinoma(56;2.06e-14) TAATATATTGGAATAGATATT 0.443000 65 65 0 0 0.00361006 0 0 TRPM5 29850 broad.mit.edu 37 11 2436006 2436006 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr11:2436006C>T uc010qxl.2 - 10 1692 c.1683G>A c.(1681-1683)ctG>ctA p.L561L TRPM5_uc001lwm.4_Silent_p.L561L|TRPM5_uc009ydn.3_Silent_p.L563L NM_014555 NP_055370 Q9NZQ8 TRPM5_HUMAN Homo sapiens transient receptor potential cation channel, subfamily M, member 5 (TRPM5), mRNA. 561 integral to membrane|plasma membrane receptor activity|voltage-gated ion channel activity breast(1)|central_nervous_system(1)|endometrium(4)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2) 23 Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311) BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191) CCTCCGTCTCCAGGTGCGACA 0.721000 77 44 0 0 0.00361006 0 0 CLCN1 1180 broad.mit.edu 37 7 143047536 143047536 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr7:143047536C>T uc003wcr.1 + 20 2562 c.2475C>T c.(2473-2475)ccC>ccT p.P825P CLCN1_uc011ktc.1_Silent_p.P437P NM_000083 NP_000074 P35523 CLCN1_HUMAN Homo sapiens chloride channel 1, skeletal muscle (CLCN1), mRNA. 825 CBS 2. muscle contraction chloride channel complex|integral to plasma membrane voltage-gated chloride channel activity breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2) 58 Melanoma(164;0.205) ACCAGTCTCCCTTCCAGCTGG 0.562000 8 36 0 0 0.000953801 0 0 CASP8 841 broad.mit.edu 37 2 202137459 202137459 + Missense_Mutation SNP C A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:202137459C>A uc002uxr.1 + 4 719 c.510C>A c.(508-510)agC>agA p.S170R CASP8_uc010ftc.1_Missense_Mutation_p.S170R|CASP8_uc002uxo.1_Missense_Mutation_p.S170R|CASP8_uc002uxq.1_Missense_Mutation_p.S170R|CASP8_uc002uxp.1_Missense_Mutation_p.S202R|CASP8_uc002uxs.1_Missense_Mutation_p.S170R|CASP8_uc002uxu.1_Non-coding_Transcript|CASP8_uc002uxt.1_Missense_Mutation_p.S229R|CASP8_uc010ftd.1_Missense_Mutation_p.S67R|CASP8_uc002uxv.1_Missense_Mutation_p.S170R|CASP8_uc002uxw.1_Missense_Mutation_p.S170R|CASP8_uc021vuy.1_3'UTR|CASP8_uc021vuz.1_Missense_Mutation_p.S170R|CASP8_uc021vva.1_Missense_Mutation_p.S170R|CASP8_uc010ftf.2_Missense_Mutation_p.S170R|CASP8_uc010fte.1_Missense_Mutation_p.S67R NM_033355 NP_203519 Q14790 CASP8_HUMAN Homo sapiens caspase 8, apoptosis-related cysteine peptidase (CASP8), transcript variant B, mRNA. 170 DED 2. activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor centrosome|cytosol|mitochondrial outer membrane cysteine-type endopeptidase activity|protein binding breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3) 52 TCAACAAGAGCCTGCTGAAGA 0.428000 HNSCC(4;0.00038) 164 32 1.836e-18 5.3669e-18 0.00375469 1 0 ECEL1 9427 broad.mit.edu 37 2 233346557 233346557 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:233346557G>A uc002vsv.2 - 12 2004 c.1799C>T c.(1798-1800)tCt>tTt p.S600F ECEL1_uc010fya.1_Missense_Mutation_p.S598F|ECEL1_uc010fyb.1_Missense_Mutation_p.S307F NM_004826 NP_004817 O95672 ECEL1_HUMAN Homo sapiens endothelin converting enzyme-like 1 (ECEL1), mRNA. 600 neuropeptide signaling pathway|proteolysis integral to plasma membrane metal ion binding|metalloendopeptidase activity breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 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;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000771)|Lung(119;0.00213)|LUSC - Lung squamous cell carcinoma(224;0.00746) GTAGTTGAGAGACCTGGGCCC 0.682000 31 14 0 0 0.00316338 0 0 ZNF224 7767 broad.mit.edu 37 19 44611150 44611150 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:44611150G>A uc002oyh.2 + 5 1154 c.837G>A c.(835-837)caG>caA p.Q279Q LOC100379224_uc002oyi.3_Non-coding_Transcript NM_013398 NP_037530 Q9NZL3 ZN224_HUMAN Homo sapiens zinc finger protein 224 (ZNF224), mRNA. 279 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent transcriptional repressor complex DNA binding|protein binding|zinc ion binding NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1) 19 Prostate(69;0.0435) AAGAACATCAGAGAATCCATA 0.423000 35 23 0 0 0.00229938 0 0 ZFP57 346171 broad.mit.edu 37 6 29640353 29640353 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr6:29640353C>T uc011dlw.2 - 3 1686 c.1535G>A c.(1534-1536)aGg>aAg p.R512K NM_001109809 NP_001103279 Q9NU63 ZFP57_HUMAN Homo sapiens zinc finger protein 57 homolog (mouse) (ZFP57), mRNA. 428 DNA methylation involved in embryo development|regulation of gene expression by genetic imprinting|transcription, DNA-dependent DNA binding|zinc ion binding p.I512M(1) NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(16)|ovary(4)|skin(4)|urinary_tract(5) 44 GCCTCTTCTCCTGGGGGTATG 0.512000 56 48 0 0 0.00361006 0 0 GTF3C1 2975 broad.mit.edu 37 16 27549248 27549248 + Splice_Site SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr16:27549248C>T uc002dov.2 - 4 649 c.609_splice c.e4-1 p.K203_splice GTF3C1_uc002dou.3_Splice_Site_p.K203_splice NM_001520 NP_001511 Q12789 TF3C1_HUMAN Homo sapiens general transcription factor IIIC, polypeptide 1, alpha 220kDa (GTF3C1), mRNA. 203 transcription factor TFIIIC complex DNA binding|protein binding breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2) 80 CAGCATCAACCCTGGAGGAAA 0.453000 15 23 0 0 0.00229938 0 0 SSTR3 6753 broad.mit.edu 37 22 37603068 37603069 + Missense_Mutation DNP CC TT TT TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr22:37603068_37603069CC>TT uc003ara.3 - 1 836_837 c.774_775GG>AA c.(772-777)atggtg>atAAtg p.258_259MV>IM SSTR3_uc003arb.3_Missense_Mutation_p.258_259MV>IM|SSTR3_uc021wos.1_Missense_Mutation_p.258_259MV>IM NM_001051 NP_001042 P32745 SSR3_HUMAN Homo sapiens somatostatin receptor 3 (SSTR3), mRNA. 258 G-protein signaling, coupled to cyclic nucleotide second messenger|induction of apoptosis by hormones|negative regulation of cell proliferation integral to plasma membrane|nonmotile primary cilium somatostatin receptor activity NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1) 14 ACGGCCACCACCATGCGCGTGA 0.673000 47 52 0 0 6.4e-05 0 0 ABCA4 24 broad.mit.edu 37 1 94487467 94487467 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:94487467G>A uc001dqh.3 - 32 4812 c.4708C>T c.(4708-4710)Ccc>Tcc p.P1570S NM_000350 NP_000341 P78363 ABCA4_HUMAN Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 4 (ABCA4), mRNA. 1570 phototransduction, visible light|visual perception integral to plasma membrane|membrane fraction ATP binding|ATPase activity, coupled to transmembrane movement of substances NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 147 all_lung(203;0.000757)|Lung NSC(277;0.00335) all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171) CCCGTGATGGGGACGACTGGG 0.498000 26 60 0 0 0.00361006 0 0 C17orf28 283987 broad.mit.edu 37 17 72949729 72949729 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr17:72949729C>T uc002jmj.4 - 14 2031 c.1882G>A c.(1882-1884)Gag>Aag p.E628K C17orf28_uc002jmi.3_Missense_Mutation_p.E30K|C17orf28_uc010wrs.2_Missense_Mutation_p.E427K NM_030630 NP_085133 Q8IV36 CQ028_HUMAN Homo sapiens chromosome 17 open reading frame 28 (C17orf28), mRNA. 628 integral to membrane|plasma membrane protein binding endometrium(5)|large_intestine(5)|lung(2)|prostate(1)|skin(3)|urinary_tract(1) 17 all_lung(278;0.151)|Lung NSC(278;0.185) TGGGACTTCTCGGTCAGCTTG 0.597000 36 12 0 0 0.00316338 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A T T rs121913377 TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed 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 28 69 0 0 0.00361006 0 0 LRP1B 53353 broad.mit.edu 37 2 141946119 141946119 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:141946119C>T uc002tvj.1 - 6 1856 c.884G>A c.(883-885)cGa>cAa p.R295Q LRP1B_uc010fnl.1_Intron NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA. 295 protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) ATAGAGATTTCGAGTGAGCCA 0.408000 TSP Lung(27;0.18) 40 23 0 0 0.00278032 0 0 GPR115 221393 broad.mit.edu 37 6 47681990 47681990 + Missense_Mutation SNP G A A rs116696585 byFrequency TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr6:47681990G>A uc003oyz.1 + 6 1180 c.1180G>A c.(1180-1182)Gaa>Aaa p.E394K GPR115_uc003oza.1_Missense_Mutation_p.E337K|GPR115_uc003ozb.1_Missense_Mutation_p.E337K|RN7SK_uc021zaf.1_5'Flank NM_153838 NP_722580 Q8IZF3 GP115_HUMAN Homo sapiens G protein-coupled receptor 115 (GPR115), mRNA. 337 GPS. neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity p.E337>?(1) NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 52 ACTCACCTTCGAAAAGATCAA 0.453000 48 49 0 0 0.00361006 0 0 SPEG 10290 broad.mit.edu 37 2 220354580 220354580 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:220354580G>A uc010fwg.3 + 35 8840 c.8840G>A c.(8839-8841)cGa>cAa p.R2947Q NM_005876 NP_005867 Q15772 SPEG_HUMAN Homo sapiens SPEG complex locus (SPEG), transcript variant 1, mRNA. 2947 Pro-rich. muscle organ development|negative regulation of cell proliferation nucleus ATP binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4) 100 Renal(207;0.0183) Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163) AGCAGTCCCCGAAGCTCTCCC 0.657000 14 21 0 0 0.00278032 0 0 MYT1L 23040 broad.mit.edu 37 2 1926499 1926499 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:1926499C>T uc002qxe.3 - 9 1869 c.1042G>A c.(1042-1044)Gag>Aag p.E348K MYT1L_uc002qxd.3_Missense_Mutation_p.E348K|MYT1L_uc010ewl.2_Non-coding_Transcript NM_015025 NP_055840 Q9UL68 MYT1L_HUMAN Homo sapiens myelin transcription factor 1-like (MYT1L), mRNA. 348 cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 97 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.037)|all_epithelial(98;0.241) OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244) GGATTCCTCTCCTGCGGGTTG 0.572000 19 27 0 0 0.00106085 0 0 PRKDC 5591 broad.mit.edu 37 8 48839794 48839794 + Silent SNP G T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr8:48839794G>T uc003xqi.3 - 20 2436 c.2379C>A c.(2377-2379)ctC>ctA p.L793L PRKDC_uc003xqj.3_Silent_p.L793L NM_006904 NP_008835 P78527 PRKDC_HUMAN Homo sapiens protein kinase, DNA-activated, catalytic polypeptide (PRKDC), transcript variant 1, mRNA. 793 cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7) 147 all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391) CCAGGCAGGGGAGAATGTCTT 0.388000 Non-homologous end-joining 30 14 3.35478e-16 9.80226e-16 0.00316338 1 0 MAP4K5 11183 broad.mit.edu 37 14 50912825 50912825 + Missense_Mutation SNP C G G TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr14:50912825C>G uc001wya.3 - 16 1477 c.1157G>C c.(1156-1158)cGt>cCt p.R386P MAP4K5_uc001wyb.3_Missense_Mutation_p.R386P|MAP4K5_uc010anv.1_Missense_Mutation_p.R386P|MAP4K5_uc001wyc.1_Missense_Mutation_p.R60P NM_006575 NP_006566 Q9Y4K4 M4K5_HUMAN Homo sapiens mitogen-activated protein kinase kinase kinase kinase 5 (MAP4K5), transcript variant 1, mRNA. 386 activation of JUN kinase activity cytoplasm ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity p.R386H(2) endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 15 all_epithelial(31;0.000415)|Breast(41;0.0102) TGGTATTGCACGTTTTGAGGT 0.284000 22 13 0 0 0.000566183 0 0 MAP3K6 9064 broad.mit.edu 37 1 27688716 27688716 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:27688716G>A uc001bny.1 - 8 1530 c.1281C>T c.(1279-1281)gcC>gcT p.A427A MAP3K6_uc009vsw.1_Silent_p.A419A|MAP3K6_uc001bnz.1_5'Flank NM_004672 NP_004663 O95382 M3K6_HUMAN Homo sapiens mitogen-activated protein kinase kinase kinase 6 (MAP3K6), mRNA. 427 activation of JUN kinase activity ATP binding|MAP kinase kinase kinase activity|magnesium ion binding breast(4)|central_nervous_system(2)|lung(3)|ovary(1) 10 all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.69e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00132)|KIRC - Kidney renal clear cell carcinoma(1967;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419) AGCCTTTGCGGGCCAGCAGGC 0.627000 34 9 0 0 0.00136819 0 0 PAPD7 11044 broad.mit.edu 37 5 6753029 6753029 + Missense_Mutation SNP T C C TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr5:6753029T>C uc003jdx.1 + 11 1442 c.1313T>C c.(1312-1314)gTt>gCt p.V438A PAPD7_uc011cmn.2_Missense_Mutation_p.V438A|PAPD7_uc010itl.1_Missense_Mutation_p.V258A NM_006999 NP_001165277 Q5XG87 PAPD7_HUMAN Homo sapiens PAP associated domain containing 7 (PAPD7), transcript variant 1, mRNA. 438 DNA replication|cell division|double-strand break repair|mitotic chromosome condensation|response to drug|sister chromatid cohesion nucleus DNA binding|DNA-directed DNA polymerase activity|SMC protein binding|metal ion binding cervix(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 27 GTTGCTCCTGTTCCTTGCAGA 0.547000 10 67 0 0 0.00361006 0 0 PODN 127435 broad.mit.edu 37 1 53546448 53546448 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:53546448C>T uc001cuv.3 + 8 1873 c.1705C>T c.(1705-1707)Ccc>Tcc p.P569S PODN_uc010onr.2_Missense_Mutation_p.P550S|PODN_uc010ons.2_Missense_Mutation_p.P427S|PODN_uc001cuw.3_Missense_Mutation_p.P550S NM_153703 NP_714914 Q7Z5L7 PODN_HUMAN Homo sapiens podocan (PODN), transcript variant 1, mRNA. 521 negative regulation of cell migration|negative regulation of cell proliferation cytoplasm|extracellular space|proteinaceous extracellular matrix collagen binding breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 CGAGGGGCTCCCCGAGTCACT 0.582000 39 9 0 0 0.000274275 0 0 RTTN 25914 broad.mit.edu 37 18 67833372 67833372 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr18:67833372G>A uc002lkp.2 - 13 1923 c.1855C>T c.(1855-1857)Ctt>Ttt p.L619F RTTN_uc002lko.2_Non-coding_Transcript|RTTN_uc010xfb.1_5'UTR NM_173630 NP_775901 Q86VV8 RTTN_HUMAN Homo sapiens rotatin (RTTN), mRNA. 619 binding NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 80 Esophageal squamous(42;0.129) ATATGGAGAAGCACCTTCTGA 0.433000 14 26 0 0 0.000878237 0 0 C15orf63 25764 broad.mit.edu 37 15 44092774 44092774 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr15:44092774G>A uc001ztb.3 + 2 599 c.116G>A c.(115-117)gGa>gAa p.G39E ELL3_uc001zsx.1_5'Flank|SERINC4_uc001ztc.1_5'Flank|SERINC4_uc010bds.1_5'Flank|SERINC4_uc001zte.1_5'Flank|C15orf63_uc001ztf.3_5'UTR|C15orf63_uc021skf.1_5'UTR|C15orf63_uc001ztg.1_5'UTR NM_016400 NP_057484 Q9NX55 HYPK_HUMAN Homo sapiens chromosome 15 open reading frame 63 (C15orf63), transcript variant 1, mRNA. 0 endometrium(1)|large_intestine(1)|ovary(1) 3 TCAGTTGCCGGAAGTCGGCGT 0.627000 12 9 0 0 0.000442599 0 0 KIF18B 146909 broad.mit.edu 37 17 43003827 43003827 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr17:43003827G>A uc010wji.2 - 14 2517 c.2416C>T c.(2416-2418)Ccc>Tcc p.P806S KIF18B_uc002iht.3_Missense_Mutation_p.P815S|KIF18B_uc010wjh.2_Missense_Mutation_p.P803S NM_001080443 NP_001073912 Homo sapiens kinesin family member 18B (KIF18B), mRNA. breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2) 21 Prostate(33;0.155) GTGCTGCTGGGGAGGCGGGCG 0.622000 3 9 0 0 0.00136819 0 0 STON1-GTF2A1L 286749 broad.mit.edu 37 2 48809238 48809238 + Missense_Mutation SNP A T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:48809238A>T uc002rwp.2 + 1 1580 c.1466A>T c.(1465-1467)aAg>aTg p.K489M STON1-GTF2A1L_uc021vhf.1_Missense_Mutation_p.K489M|STON1-GTF2A1L_uc002rwo.4_Missense_Mutation_p.K489M|STON1-GTF2A1L_uc010fbm.3_Missense_Mutation_p.K489M|STON1-GTF2A1L_uc010yol.2_Missense_Mutation_p.K489M NM_172311 NP_758515 B7ZL16 B7ZL16_HUMAN Homo sapiens STON1-GTF2A1L readthrough (STON1-GTF2A1L), transcript variant 1, mRNA. 489 endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter clathrin adaptor complex|transcription factor TFIIA complex NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(22)|liver(2)|lung(49)|ovary(3)|pancreas(1)|prostate(4)|skin(4) 91 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) CATTTTCATAAGTGTGTGAAT 0.378000 55 18 0 0 0.00074312 0 0 ZNF496 84838 broad.mit.edu 37 1 247464520 247464520 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:247464520G>A uc009xgv.3 - 7 1210 c.1173C>T c.(1171-1173)atC>atT p.I391I ZNF496_uc001ico.3_Silent_p.I355I NM_032752 NP_116141 Q96IT1 ZN496_HUMAN Homo sapiens zinc finger protein 496 (ZNF496), mRNA. 355 positive regulation of transcription, DNA-dependent|viral reproduction DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 36 all_cancers(71;0.000136)|all_epithelial(71;2.62e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661) OV - Ovarian serous cystadenocarcinoma(106;0.00703) TGGAGAGAACGATCTCGATGG 0.627000 78 18 0 0 0.00121646 0 0 GRIA4 2893 broad.mit.edu 37 11 105789611 105789611 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr11:105789611C>T uc001pix.2 + 10 1889 c.1443C>T c.(1441-1443)atC>atT p.I481I GRIA4_uc001piw.2_Silent_p.I481I NM_000829 NP_000820 P48058 GRIA4_HUMAN Homo sapiens glutamate receptor, ionotrophic, AMPA 4 (GRIA4), transcript variant 1, mRNA. 481 glutamate signaling pathway|synaptic transmission cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6) 82 Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323) BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899) L-Glutamic Acid(DB00142) ACACAAAAATCTGGAATGGGA 0.368000 2 20 0 0 0.00278032 0 0 SPPL2A 84888 broad.mit.edu 37 15 51012216 51012216 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr15:51012216G>A uc001zyv.3 - 13 1589 c.1409C>T c.(1408-1410)cCt>cTt p.P470L NM_032802 NP_116191 Q8TCT8 PSL2_HUMAN Homo sapiens signal peptide peptidase-like 2A (SPPL2A), mRNA. 470 integral to membrane aspartic-type endopeptidase activity endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 15 all cancers(107;0.000712)|GBM - Glioblastoma multiforme(94;0.00314) AAGTGTGCAAGGTACTAAATA 0.413000 32 38 0 0 0.00148497 0 0 SBSPON 157869 broad.mit.edu 37 8 73982117 73982117 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr8:73982117C>T uc003xzf.3 - 3 805 c.600G>A c.(598-600)acG>acA p.T200T NM_153225 NP_694957 Q8IVN8 RPESP_HUMAN Homo sapiens chromosome 8 open reading frame 84 (C8orf84), mRNA. 200 immune response extracellular region polysaccharide binding|scavenger receptor activity CCACACACACCGTGTATCCCT 0.488000 22 34 0 0 0.00375469 0 0 ZNF462 58499 broad.mit.edu 37 9 109694806 109694806 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr9:109694806C>T uc004bcz.3 + 4 6381 c.6092C>T c.(6091-6093)tCg>tTg p.S2031L MIR548Q_uc022bli.1_Intron|ZNF462_uc010mto.3_Missense_Mutation_p.S1940L|ZNF462_uc004bda.3_Missense_Mutation_p.S1939L|ZNF462_uc011lvz.2_5'Flank NM_021224 NP_067047 Q96JM2 ZN462_HUMAN Homo sapiens zinc finger protein 462 (ZNF462), mRNA. 2031 transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 119 CAGTATTGCTCGTTTGTTTCT 0.522000 1 31 0 0 0.00375469 0 0 TBX18 9096 broad.mit.edu 37 6 85470044 85470044 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr6:85470044G>A uc003pkl.1 - 2 528 c.528C>T c.(526-528)atC>atT p.I176I TBX18_uc010kbq.2_Silent_p.I18I NM_001080508 NP_001073977 O95935 TBX18_HUMAN Homo sapiens T-box 18 (TBX18), mRNA. 176 multicellular organismal development nucleus DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|liver(1)|lung(31)|ovary(2)|pancreas(3)|prostate(6)|skin(3) 61 all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858) BRCA - Breast invasive adenocarcinoma(108;0.0267) CTAATCCAGAGATCTTCACTC 0.393000 5 19 0 0 0.00188189 0 0 FAM75E1 286234 broad.mit.edu 37 9 90499983 90499983 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr9:90499983C>T uc004app.4 + 3 616 c.581C>T c.(580-582)cCc>cTc p.P194L FAM75E1_uc004apo.1_Intron NM_178828 NP_849150 Q6ZUB1 CI079_HUMAN Homo sapiens chromosome 9 open reading frame 79 (C9orf79), mRNA. 194 Pro-rich. integral to membrane CCACCAGCTCCCCCAGCTCCT 0.637000 10 40 0 0 0.0025221 0 0 SOGA1 140710 broad.mit.edu 37 20 35422902 35422902 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr20:35422902G>A uc021wcx.1 - 13 3923 c.3583C>T c.(3583-3585)Cct>Tct p.P1195S SOGA1_uc002xgd.1_Missense_Mutation_p.P957S|SOGA1_uc021wcy.1_Missense_Mutation_p.P86S NM_080627 NP_542194 O94964 K0889_HUMAN Homo sapiens KIAA0889 (KIAA0889), transcript variant 1, mRNA. 957 endometrium(5)|kidney(1)|lung(21)|urinary_tract(1) 28 CCAAAGGCAGGGTTGTTAGGC 0.557000 157 50 0 0 0.00361006 0 0 MCF2L2 23101 broad.mit.edu 37 3 182897272 182897272 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr3:182897272C>T uc003fli.1 - 29 3331 c.3241G>A c.(3241-3243)Gag>Aag p.E1081K NM_015078 NP_055893 Q86YR7 MF2L2_HUMAN Homo sapiens MCF.2 cell line derived transforming sequence-like 2 (MCF2L2), mRNA. 1081 regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 72 all_cancers(143;1.26e-12)|Ovarian(172;0.0355) all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21) GCGCGCTCCTCCTCGGTGCTG 0.687000 9 12 0 0 0.000978159 0 0 VRK3 51231 broad.mit.edu 37 19 50492947 50492947 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:50492947G>A uc002prg.2 - 10 1143 c.1045C>T c.(1045-1047)Cct>Tct p.P349S VRK3_uc002prh.1_Missense_Mutation_p.P349S|VRK3_uc002pri.1_Missense_Mutation_p.P299S|VRK3_uc010ens.2_Missense_Mutation_p.P349S|VRK3_uc010ybl.1_Missense_Mutation_p.P299S|VRK3_uc010ybm.1_Missense_Mutation_p.P118S|VRK3_uc002prk.2_Missense_Mutation_p.P349S|VRK3_uc010ent.2_Missense_Mutation_p.P105S|VRK3_uc002prl.3_Missense_Mutation_p.P349S|VRK3_uc010ybn.1_3'UTR NM_016440 NP_057524 Q8IV63 VRK3_HUMAN Homo sapiens vaccinia related kinase 3 (VRK3), transcript variant 1, mRNA. 349 Protein kinase. nucleus ATP binding|protein kinase activity breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|skin(2)|stomach(2)|urinary_tract(1) 23 all_neural(266;0.0459)|Ovarian(192;0.0481) GBM - Glioblastoma multiforme(134;0.00166)|OV - Ovarian serous cystadenocarcinoma(262;0.00652) CCCTCGTGAGGGCTCCTGCTG 0.572000 48 13 0 0 0.00185496 0 0 KIFC2 90990 broad.mit.edu 37 8 145692696 145692697 + Missense_Mutation DNP CC TT TT TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr8:145692696_145692697CC>TT uc003zcz.3 + 3 506_507 c.441_442CC>TT c.(439-444)gcccct>gcTTct p.P148S CYHR1_uc003zcv.2_5'Flank|CYHR1_uc003zcw.2_5'Flank|CYHR1_uc003zcx.2_5'Flank|CYHR1_uc003zcy.2_5'Flank NM_145754 NP_665697 Q96AC6 KIFC2_HUMAN Homo sapiens kinesin family member C2 (KIFC2), mRNA. 148 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity|protein binding central_nervous_system(1)|endometrium(1)|kidney(1)|lung(7)|ovary(3)|prostate(3)|skin(2)|urinary_tract(1) 19 all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055) CTCAGCCAGCCCCTCGGGTCCG 0.624000 OREG0019057 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 59 104 0 0 6.4e-05 0 0 CHIA 27159 broad.mit.edu 37 1 111861282 111861282 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:111861282G>A uc001eas.3 + 8 1054 c.897G>A c.(895-897)ggG>ggA p.G299G CHIA_uc001ear.3_Silent_p.G191G|CHIA_uc001eaq.3_Silent_p.G191G|CHIA_uc009wgc.3_Silent_p.G191G|CHIA_uc001eat.3_Silent_p.G138G|CHIA_uc001eav.3_Silent_p.G138G|CHIA_uc001eau.3_Silent_p.G138G|CHIA_uc009wgd.3_Silent_p.G138G NM_201653 NP_068569 Q9BZP6 CHIA_HUMAN Homo sapiens chitinase, acidic (CHIA), transcript variant 4, mRNA. 299 apoptosis|cell wall chitin metabolic process|chitin catabolic process|digestion|immune response|positive regulation of chemokine secretion|production of molecular mediator involved in inflammatory response|response to acid|response to fungus cytoplasm|extracellular space cation binding|chitin binding|chitinase activity|kinase binding|lysozyme activity|sugar binding central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|skin(1) 23 all_cancers(81;3.23e-05)|all_epithelial(167;1.2e-05)|all_lung(203;0.000154)|Lung NSC(277;0.000304) Colorectal(144;0.0115)|Lung(183;0.0292)|COAD - Colon adenocarcinoma(174;0.0314)|all cancers(265;0.0477)|Epithelial(280;0.0918)|LUSC - Lung squamous cell carcinoma(189;0.154) AGGAGTCTGGGATCTGGGCTT 0.517000 117 23 0 0 0.00278032 0 0 CDK5RAP3 80279 broad.mit.edu 37 17 46057967 46057967 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr17:46057967C>T uc010wlc.2 + 11 1270 c.1146C>T c.(1144-1146)atC>atT p.I382I CDK5RAP3_uc002imq.1_Silent_p.I137I|CDK5RAP3_uc002imr.3_Silent_p.I362I|CDK5RAP3_uc002ims.3_Silent_p.I275I NM_176096 NP_788276 Q96JB5 CK5P3_HUMAN Homo sapiens CDK5 regulatory subunit associated protein 3 (CDK5RAP3), mRNA. 362 brain development|regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation neuronal Cdc2-like kinase binding NS(1)|central_nervous_system(2)|cervix(3)|endometrium(3)|large_intestine(2)|lung(5)|prostate(1)|skin(1) 18 AGCTTGAGATCTTCTTAGCCC 0.547000 175 65 0 0 0.00361006 0 0 PTPN22 26191 broad.mit.edu 37 1 114380814 114380814 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:114380814G>A uc001eds.3 - 12 1338 c.1208C>T c.(1207-1209)cCa>cTa p.P403L PTPN22_uc021orx.1_Missense_Mutation_p.P403L|PTPN22_uc009wgq.3_Missense_Mutation_p.P348L|PTPN22_uc021ory.1_Missense_Mutation_p.P379L|PTPN22_uc010owo.2_Missense_Mutation_p.P159L|PTPN22_uc001edt.3_Intron|PTPN22_uc009wgr.2_Missense_Mutation_p.P403L|PTPN22_uc009wgs.2_Missense_Mutation_p.P276L|PTPN22_uc001edu.2_Missense_Mutation_p.P403L NM_015967 NP_057051 Q9Y2R2 PTN22_HUMAN Homo sapiens protein tyrosine phosphatase, non-receptor type 22 (lymphoid) (PTPN22), transcript variant 1, mRNA. 403 T cell differentiation|negative regulation of T cell activation|negative regulation of T cell receptor signaling pathway|phosphoanandamide dephosphorylation|regulation of B cell receptor signaling pathway|regulation of natural killer cell proliferation internal side of plasma membrane|nucleus|perinuclear region of cytoplasm SH3 domain binding|kinase binding|protein tyrosine phosphatase activity NS(1)|breast(1)|kidney(3)|large_intestine(4)|lung(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 21 Lung SC(450;0.184) all_cancers(81;1.93e-08)|all_epithelial(167;4.37e-08)|all_lung(203;5.22e-06)|Lung NSC(69;8.94e-06) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) CCCAACTATTGGAAATGCCTT 0.403000 62 17 0 0 0.000566183 0 0 ACE2 59272 broad.mit.edu 37 X 15610379 15610379 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chrX:15610379G>A uc004cxa.1 - 2 580 c.412C>T c.(412-414)Cca>Tca p.P138S ACE2_uc004cxb.2_Missense_Mutation_p.P138S NM_021804 NP_068576 Q9BYF1 ACE2_HUMAN Homo sapiens angiotensin I converting enzyme (peptidyl-dipeptidase A) 2 (ACE2), mRNA. 138 angiotensin-mediated drinking behavior|proteolysis|receptor biosynthetic process|regulation of cell proliferation|virion attachment, binding of host cell surface receptor cell surface|extracellular space|integral to membrane|membrane raft|plasma membrane carboxypeptidase activity|glycoprotein binding|metallopeptidase activity|peptidyl-dipeptidase activity|viral receptor activity|zinc ion binding endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1) 32 Hepatocellular(33;0.183) Moexipril(DB00691) CATTCTTGTGGATTATCTGGG 0.294000 6 126 0 0 0.00361006 0 0 SFSWAP 6433 broad.mit.edu 37 12 132209997 132209997 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr12:132209997C>T uc001uja.1 + 4 794 c.654C>T c.(652-654)ttC>ttT p.F218F SFSWAP_uc010tbn.1_Silent_p.F218F|SFSWAP_uc001ujb.1_Silent_p.F11F|SFSWAP_uc001uiz.1_Silent_p.F92F NM_004592 NP_004583 Q12872 SFSWA_HUMAN Homo sapiens splicing factor, suppressor of white-apricot homolog (Drosophila) (SFSWAP), mRNA. 218 mRNA splice site selection|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus RNA binding|protein binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(8)|ovary(1)|skin(2) 25 CGGCCAGCTTCGTGTGCAGGC 0.562000 46 15 0 0 0.00121646 0 0 SCN11A 11280 broad.mit.edu 37 3 38961481 38961481 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr3:38961481C>T uc021wvy.1 - 6 1103 c.904G>A c.(904-906)Gaa>Aaa p.E302K NM_014139 NP_054858 Q9UI33 SCNBA_HUMAN Homo sapiens sodium channel, voltage-gated, type XI, alpha subunit (SCN11A), mRNA. 302 response to drug voltage-gated sodium channel complex voltage-gated sodium channel activity NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3) 119 Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226) Cocaine(DB00907) TCTTTCTTTTCAAAGCAATGG 0.333000 59 16 0 0 0.000958276 0 0 ODZ3 55714 broad.mit.edu 37 4 183650332 183650332 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr4:183650332G>A uc003ivd.1 + 12 2658 c.2583G>A c.(2581-2583)aaG>aaA p.K861K ODZ3_uc003ive.1_Silent_p.K267K NM_001080477 NP_001073946 Q9P273 TEN3_HUMAN Homo sapiens odz, odd Oz/ten-m homolog 3 (Drosophila) (ODZ3), mRNA. 861 signal transduction integral to membrane NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(35)|lung(56)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(4) 129 all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184) all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487) CTTTCAATAAGAGGTTAATGC 0.378000 3 18 0 0 0.00074312 0 0 HYDIN 54768 broad.mit.edu 37 GL000192.1 160295 160295 + RNA SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chrGL000192.1:160295C>T uc010yih.1 - 11 c.2127G>A Q4G0P3 HYDIN_HUMAN Homo sapiens mRNA for KIAA1864 protein, partial cds. breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 43 Ovarian(137;0.0654) TCTTAAACTTCTGGGCCAGTT 0.542000 120 10 0 0 0.00152264 0 0 PSD2 84249 broad.mit.edu 37 5 139189215 139189215 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr5:139189215C>T uc003leu.1 + 1 395 c.190C>T c.(190-192)Cca>Tca p.P64S NM_032289 NP_115665 Q9BQI7 PSD2_HUMAN Homo sapiens pleckstrin and Sec7 domain containing 2 (PSD2), mRNA. 64 regulation of ARF protein signal transduction cytoplasm|integral to membrane ARF guanyl-nucleotide exchange factor activity breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(10)|liver(2)|lung(15)|ovary(1)|prostate(2) 38 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CACGAAGGACCCAGATGTGGC 0.627000 48 21 0 0 0.00332997 0 0 FRAS1 80144 broad.mit.edu 37 4 79432514 79432514 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr4:79432514C>T uc003hlb.2 + 63 10307 c.9867C>T c.(9865-9867)ccC>ccT p.P3289P FRAS1_uc003hlc.1_Silent_p.P291P NM_025074 NP_079350 Q86XX4 FRAS1_HUMAN Homo sapiens Fraser syndrome 1 (FRAS1), transcript variant 1, mRNA. 3284 cell communication integral to membrane|plasma membrane metal ion binding breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4) 103 TGGGGACCCCCTTAAGGAGCA 0.547000 39 24 0 0 0.000878237 0 0 OR1L6 392390 broad.mit.edu 37 9 125512186 125512186 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr9:125512186C>T uc022bna.1 + 0 60 c.60C>T c.(58-60)tcC>tcT p.S20S NM_001004453 NP_001004453 Q8NGR2 OR1L6_HUMAN Homo sapiens olfactory receptor, family 1, subfamily L, member 6 (OR1L6), mRNA. 56 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|large_intestine(5)|lung(4)|ovary(1)|stomach(1) 12 GCCTCTCTTCCAACCCTCAGC 0.542000 15 74 0 0 0.00361006 0 0 KRT16 3868 broad.mit.edu 37 17 39768789 39768789 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr17:39768789G>A uc002hxg.4 - 0 291 c.152C>T c.(151-153)tCt>tTt p.S51F JUP_uc010wfs.2_Intron|KRT16_uc021txm.1_Missense_Mutation_p.S51F NM_005557 NP_005548 P08779 K1C16_HUMAN Homo sapiens keratin 16 (KRT16), mRNA. 51 Head. cell proliferation|epidermis development intermediate filament protein binding|structural constituent of cytoskeleton NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 23 Breast(137;0.000307) AGAGGAGACAGACAGGCCGCC 0.716000 2 8 0 0 0.00307968 0 0 ACE 1636 broad.mit.edu 37 17 61566478 61566478 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr17:61566478C>T uc002jau.2 + 16 2660 c.2626C>T c.(2626-2628)Cct>Tct p.P876S ACE_uc010wpj.2_Missense_Mutation_p.P302S|ACE_uc010ddv.2_Missense_Mutation_p.P103S|ACE_uc002jav.2_Missense_Mutation_p.P302S|ACE_uc002jaw.2_Non-coding_Transcript|ACE_uc010wpk.2_Intron NM_000789 NP_000780 P12821 ACE_HUMAN Homo sapiens angiotensin I converting enzyme (peptidyl-dipeptidase A) 1 (ACE), transcript variant 1, mRNA. 876 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) GGGGCCCATTCCTGCTCACCT 0.632000 4 26 0 0 0.00332997 0 0 MYLK3 91807 broad.mit.edu 37 16 46781861 46781861 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr16:46781861G>A uc002eei.4 - 0 361 c.245C>T c.(244-246)cCc>cTc p.P82L MYLK3_uc010vge.2_Intron NM_182493 NP_872299 Q32MK0 MYLK3_HUMAN Homo sapiens myosin light chain kinase 3 (MYLK3), mRNA. 82 cardiac myofibril assembly|cellular response to interleukin-1|positive regulation of sarcomere organization|regulation of vascular permeability involved in acute inflammatory response|sarcomere organization|sarcomerogenesis cytosol ATP binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(5)|stomach(3) 37 all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116) GTCAATGTGGGGAACCCCATC 0.706000 19 7 0 0 0.00198382 0 0 HHIPL2 79802 broad.mit.edu 37 1 222713516 222713516 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:222713516C>T uc001hnh.1 - 3 1344 c.1286G>A c.(1285-1287)gGg>gAg p.G429E NM_024746 NP_079022 Q6UWX4 HIPL2_HUMAN Homo sapiens HHIP-like 2 (HHIPL2), mRNA. 429 carbohydrate metabolic process extracellular region oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 59 GBM - Glioblastoma multiforme(131;0.0185) GATGGGGTCCCCTCGGTCCAC 0.577000 164 238 0 0 0.00361006 0 0 SIGLEC7 27036 broad.mit.edu 37 19 51650568 51650568 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:51650568C>T uc002pvv.1 + 5 1284 c.1215C>T c.(1213-1215)gcC>gcT p.A405A SIGLEC7_uc002pvw.1_Silent_p.A312A|SIGLEC7_uc010eoq.1_Non-coding_Transcript|SIGLEC7_uc010eor.1_Intron NM_014385 NP_055200 Q9Y286 SIGL7_HUMAN Homo sapiens sialic acid binding Ig-like lectin 7 (SIGLEC7), transcript variant 1, mRNA. 405 cell adhesion integral to plasma membrane receptor activity|sugar binding autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(11)|skin(2)|stomach(1) 29 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.000836)|OV - Ovarian serous cystadenocarcinoma(262;0.00297) GGGGCTCAGCCTCTCAGGTGA 0.552000 27 8 0 0 0.000274275 0 0 SPDYE6 729597 broad.mit.edu 37 7 101988921 101988921 + Missense_Mutation SNP G T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr7:101988921G>T uc011kkp.2 - 5 1373 c.952C>A c.(952-954)Cgt>Agt p.R318S DQ601342_uc022aje.1_5'Flank NM_001146210 NP_001139682 P0CI01 SPDE6_HUMAN Homo sapiens speedy homolog E6 (Xenopus laevis) (SPDYE6), mRNA. 318 Arg-rich. TTCGTGGAACGGTATAACTGG 0.572000 485 15 0.00152264 0.00439024 0.00152264 1 0 SNAP47 116841 broad.mit.edu 37 1 227935648 227935648 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:227935648C>T uc001hrf.2 + 1 760 c.346C>T c.(346-348)Ctg>Ttg p.L116L SNAP47_uc001hra.2_Intron|SNAP47_uc001hrd.3_Silent_p.L116L|SNAP47_uc001hre.3_Intron NM_053052 NP_444280 Q5SQN1 SNP47_HUMAN Homo sapiens synaptosomal-associated protein, 47kDa (SNAP47), mRNA. 116 endomembrane system|membrane|perinuclear region of cytoplasm endometrium(1)|large_intestine(5)|liver(2)|lung(6)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 17 CATCACCATCCTGGAGAAGGG 0.532000 90 44 0 0 0.00361006 0 0 DLL4 54567 broad.mit.edu 37 15 41224579 41224580 + Missense_Mutation DNP GG AA AA TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr15:41224579_41224580GG>AA uc001zng.2 + 5 1120_1121 c.784_785GG>AA c.(784-786)ggc>AAc p.G262N NM_019074 NP_061947 Q9NR61 DLL4_HUMAN Homo sapiens delta-like 4 (Drosophila) (DLL4), mRNA. 262 EGF-like 2. Notch receptor processing|Notch signaling pathway|blood circulation|cell communication|cell differentiation integral to membrane|plasma membrane Notch binding|calcium ion binding breast(3)|large_intestine(1) 4 all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946) GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164) CTGTCGCCACGGCACCTGCAGC 0.614000 70 66 0 0 6.4e-05 0 0 EPHA1 2041 broad.mit.edu 37 7 143095808 143095808 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr7:143095808C>T uc003wcz.3 - 5 1309 c.1222G>A c.(1222-1224)Ggc>Agc p.G408S NM_005232 NP_005223 P21709 EPHA1_HUMAN Homo sapiens EPH receptor A1 (EPHA1), mRNA. 408 Fibronectin type-III 1. integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3) 51 Melanoma(164;0.205) Myeloproliferative disorder(862;0.0255) GGTTCAAGGCCATTGACATGC 0.632000 61 35 0 0 0.000953801 0 0 MICALCL 84953 broad.mit.edu 37 11 12315811 12315811 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr11:12315811G>A uc001mkg.1 + 2 1124 c.833G>A c.(832-834)cGa>cAa p.R278Q NM_032867 NP_116256 Q6ZW33 MICLK_HUMAN Homo sapiens MICAL C-terminal like (MICALCL), mRNA. 278 cell differentiation|multicellular organismal development|spermatogenesis cytoplasm mitogen-activated protein kinase binding breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1) 30 Epithelial(150;0.00177) AATGCCATCCGAAGGTCTCTA 0.607000 21 34 0 0 0.00283554 0 0 SLC12A1 6557 broad.mit.edu 37 15 48500135 48500135 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr15:48500135C>T uc001zwn.4 + 1 435 c.219C>T c.(217-219)ttC>ttT p.F73F SLC12A1_uc010uew.1_Intron|SLC12A1_uc010bem.3_Silent_p.F73F|SLC12A1_uc010uex.2_Silent_p.F73F NM_000338 NP_000329 Q13621 S12A1_HUMAN Homo sapiens solute carrier family 12 (sodium/potassium/chloride transporters), member 1 (SLC12A1), transcript variant 1, mRNA. 73 potassium ion transport|sodium ion transport integral to membrane|membrane fraction sodium:potassium:chloride symporter activity NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|prostate(2)|skin(1) 59 all_lung(180;0.00219) all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06) Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021) ATGACAATTTCCTCCAAAGTG 0.428000 45 47 0 0 0.00285205 0 0 ANKRD45 339416 broad.mit.edu 37 1 173628282 173628282 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:173628282C>T uc001gja.1 - 1 337 c.276G>A c.(274-276)gtG>gtA p.V92V ANKRD45_uc001gjb.4_Silent_p.V92V NM_198493 NP_940895 Q5TZF3 ANR45_HUMAN Homo sapiens ankyrin repeat domain 45 (ANKRD45), mRNA. 108 NS(2)|endometrium(2)|large_intestine(4)|lung(3)|skin(1) 12 AAGCTCTAATCACGTCACTTT 0.398000 52 65 0 0 0.00361006 0 0 MYH6 4624 broad.mit.edu 37 14 23870134 23870134 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr14:23870134C>T uc001wjv.3 - 12 1265 c.1194G>A c.(1192-1194)aaG>aaA p.K398K MYH6_uc010akp.2_Silent_p.K398K NM_002471 NP_002462 P13533 MYH6_HUMAN Homo sapiens myosin, heavy chain 6, cardiac muscle, alpha (MYH6), mRNA. 398 Myosin head-like. adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 119 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441) GGCACAGCCCCTTGAGCAGGT 0.547000 31 14 0 0 0.000422831 0 0 RNASEL 6041 broad.mit.edu 37 1 182544549 182544549 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:182544549C>T uc009wxz.2 - 6 2461 c.2204G>A c.(2203-2205)gGg>gAg p.G735E NM_021133 NP_066956 Q05823 RN5A_HUMAN Homo sapiens ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent) (RNASEL), mRNA. 735 mRNA processing|response to virus|type I interferon-mediated signaling pathway mitochondrion ATP binding|RNA binding|endoribonuclease activity, producing 5'-phosphomonoesters|metal ion binding|protein kinase activity p.G735W(1)|p.S734I(1) NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(1) 27 GCTGGCCAACCCACTGGCCCC 0.483000 86 26 0 0 0.00209593 0 0 GCN1L1 10985 broad.mit.edu 37 12 120586048 120586048 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr12:120586048G>A uc001txo.3 - 36 4662 c.4649C>T c.(4648-4650)tCc>tTc p.S1550F NM_006836 NP_006827 Q92616 GCN1L_HUMAN Homo sapiens GCN1 general control of amino-acid synthesis 1-like 1 (yeast) (GCN1L1), mRNA. 1550 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) TTTGACATGGGAGTCGGTCAG 0.582000 21 34 0 0 0.00128727 0 0 VWA3B 200403 broad.mit.edu 37 2 98709692 98709692 + Missense_Mutation SNP A G G TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:98709692A>G uc002syo.3 + 1 401 c.137A>G c.(136-138)aAg>aGg p.K46R VWA3B_uc010yvh.2_5'UTR|VWA3B_uc002syj.3_Non-coding_Transcript|VWA3B_uc002syk.1_Non-coding_Transcript|VWA3B_uc002syl.1_5'UTR|VWA3B_uc002sym.3_Missense_Mutation_p.K46R|VWA3B_uc002syn.1_Non-coding_Transcript NM_144992 NP_659429 Q502W6 VWA3B_HUMAN Homo sapiens von Willebrand factor A domain containing 3B (VWA3B), mRNA. 46 NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 70 CATGGGCTTAAGAGCAACAAA 0.453000 43 43 0 0 0.0025221 0 0 TNFRSF4 7293 broad.mit.edu 37 1 1148074 1148074 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:1148074G>A uc001adf.3 - 2 991 c.393C>T c.(391-393)ccC>ccT p.P131P TNFRSF4_uc001ade.3_Silent_p.P127P P43489 TNR4_HUMAN Homo sapiens tumor necrosis factor receptor superfamily, member 4 (TNFRSF4), mRNA. 127 T cell proliferation|immune response|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|positive regulation of B cell proliferation|positive regulation of immunoglobulin secretion integral to plasma membrane tumor necrosis factor receptor activity p.P130P(1) large_intestine(1)|lung(2)|urinary_tract(1) 4 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;3.73e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.01e-21)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199) CTGGAGGGCAGGGGGCACAGT 0.706000 0 7 0 0 0.000274275 0 0 MARCO 8685 broad.mit.edu 37 2 119699879 119699879 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:119699879G>A uc002tln.1 + 0 135 c.3G>A c.(1-3)atG>atA p.M1I MARCO_uc010yyf.1_5'UTR NM_006770 NP_006761 Q9UEW3 MARCO_HUMAN Homo sapiens macrophage receptor with collagenous structure (MARCO), mRNA. 1 cell surface receptor linked signaling pathway|innate immune response collagen|integral to plasma membrane pattern recognition receptor activity|scavenger receptor activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 70 GCTTGGCAATGAGAAATAAGA 0.458000 17 17 0 0 0.000422831 0 0 PSMC3 5702 broad.mit.edu 37 11 47444385 47444385 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr11:47444385G>A uc001nfh.2 - 6 925 c.731C>T c.(730-732)aCt>aTt p.T244I NM_002804 NP_002795 P17980 PRS6A_HUMAN Homo sapiens proteasome (prosome, macropain) 26S subunit, ATPase, 3 (PSMC3), mRNA. 244 DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|interspecies interaction between organisms|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|viral reproduction cytoplasm|nucleus|proteasome complex ATP binding|nucleoside-triphosphatase activity|protein binding|transcription coactivator activity|transcription corepressor activity breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(4)|urinary_tract(1) 17 Lung(87;0.0932)|BRCA - Breast invasive adenocarcinoma(625;0.13) ACTCACCTTAGTCTGTGCGGC 0.587000 103 53 0 0 0.00361006 0 0 MIP 4284 broad.mit.edu 37 12 56848172 56848172 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr12:56848172G>A uc001slh.3 - 0 264 c.226C>T c.(226-228)Ctt>Ttt p.L76F NM_012064 NP_036196 P30301 MIP_HUMAN Homo sapiens major intrinsic protein of lens fiber (MIP), mRNA. 76 response to stimulus|visual perception gap junction|integral to plasma membrane structural constituent of eye lens kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(3)|urinary_tract(1) 16 GAGCCCACAAGGAAAGCAAAA 0.602000 22 23 0 0 0.00278032 0 0 ARHGAP22 58504 broad.mit.edu 37 10 49667799 49667799 + Missense_Mutation SNP A T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr10:49667799A>T uc001jgu.3 - 4 932 c.635T>A c.(634-636)aTg>aAg p.M212K ARHGAP22_uc001jgs.3_Missense_Mutation_p.M106K|ARHGAP22_uc001jgt.3_Missense_Mutation_p.M196K|ARHGAP22_uc010qgl.2_Missense_Mutation_p.M153K|ARHGAP22_uc010qgm.2_Missense_Mutation_p.M202K|ARHGAP22_uc001jgv.3_5'UTR NM_021226 NP_067049 Q7Z5H3 RHG22_HUMAN Homo sapiens Rho GTPase activating protein 22 (ARHGAP22), transcript variant 3, mRNA. 196 Rho-GAP. angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent cytosol|nucleus GTPase activator activity p.D211D(1) endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 CTGGCCTGGCATGCGGAACAG 0.642000 45 66 0 0 0.00361006 0 0 MORC1 27136 broad.mit.edu 37 3 108813765 108813765 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr3:108813765C>T uc003dxl.3 - 6 661 c.574G>A c.(574-576)Gga>Aga p.G192R MORC1_uc011bhn.2_Missense_Mutation_p.G192R NM_014429 NP_055244 Q86VD1 MORC1_HUMAN Homo sapiens MORC family CW-type zinc finger 1 (MORC1), mRNA. 192 cell differentiation|multicellular organismal development|spermatogenesis nucleus ATP binding|zinc ion binding breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3) 105 CCACATTTTCCATAGATCACA 0.308000 20 19 0 0 0.00229938 0 0 KIF26A 26153 broad.mit.edu 37 14 104643572 104643572 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr14:104643572G>A uc001yos.4 + 11 4447 c.4447G>A c.(4447-4449)Ggc>Agc p.G1483S NM_015656 NP_056471 Q9ULI4 KI26A_HUMAN Homo sapiens kinesin family member 26A (KIF26A), mRNA. 1483 blood coagulation|enteric nervous system development|microtubule-based movement|negative regulation of signal transduction|regulation of cell growth by extracellular stimulus cytosol|microtubule ATP binding|microtubule binding|microtubule motor activity autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2) 21 all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767) Epithelial(46;0.152) Epithelial(152;0.161) CTGTAGGAGCGGCGCAGCCAA 0.726000 8 12 0 0 0.00244969 0 0 OR6V1 346517 broad.mit.edu 37 7 142749553 142749553 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr7:142749553G>A uc011ksv.2 + 0 116 c.116G>A c.(115-117)gGa>gAa p.G39E NM_001001667 NP_001001667 Q8N148 OR6V1_HUMAN Homo sapiens olfactory receptor, family 6, subfamily V, member 1 (OR6V1), mRNA. 39 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.G39G(1) endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|upper_aerodigestive_tract(1) 20 Melanoma(164;0.059) GCCTTCATGGGAAACACCATC 0.502000 190 50 0 0 0.00361006 0 0 CSTF2T 23283 broad.mit.edu 37 10 53458235 53458236 + Missense_Mutation DNP GG AA AA TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr10:53458235_53458236GG>AA uc001jjp.3 - 0 1120_1121 c.1074_1075CC>TT c.(1072-1077)ccccat>ccTTat p.H359Y PRKG1_uc001jjm.3_Intron|PRKG1_uc001jjn.2_Intron|PRKG1_uc001jjo.3_Intron NM_015235 NP_056050 Q9H0L4 CSTFT_HUMAN Homo sapiens cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa, tau variant (CSTF2T), mRNA. 359 Gly-rich. mRNA processing nucleus RNA binding|nucleotide binding NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 30 COAD - Colon adenocarcinoma(2;0.00736)|Colorectal(2;0.00898)|all cancers(4;0.0188)|GBM - Glioblastoma multiforme(4;0.0778)|Epithelial(53;0.122) GGACCCTGATGGGGTGGACCCA 0.559000 29 36 0 0 6.4e-05 0 0 MYO5B 4645 broad.mit.edu 37 18 47463690 47463690 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr18:47463690C>T uc002leb.2 - 14 2118 c.1830G>A c.(1828-1830)tcG>tcA p.S610S MYO5B_uc021ukb.1_Silent_p.S609S NM_001080467 NP_001073936 Q9ULV0 MYO5B_HUMAN Homo sapiens myosin VB (MYO5B), mRNA. 610 Myosin head-like. protein transport myosin complex ATP binding|actin binding|calmodulin binding|motor activity NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4) 87 READ - Rectum adenocarcinoma(32;0.103) CGCTGATCTTCGAAGATGACC 0.532000 61 33 0 0 0.00375469 0 0 ROS1 6098 broad.mit.edu 37 6 117730773 117730773 + Silent SNP C T T rs149736013 TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr6:117730773C>T uc003pxp.1 - 3 460 c.261G>A c.(259-261)gcG>gcA p.A87A ROS1_uc011ebi.1_Non-coding_Transcript|ROS1_uc003pxq.1_Intron NM_002944 NP_002935 P08922 ROS_HUMAN Homo sapiens c-ros oncogene 1 , receptor tyrosine kinase (ROS1), mRNA. 87 transmembrane receptor protein tyrosine kinase signaling pathway membrane fraction|sodium:potassium-exchanging ATPase complex ATP binding|transmembrane receptor protein tyrosine kinase activity TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7) NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 162 all_cancers(87;0.00846)|all_epithelial(87;0.0242) GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137) ATGCACCTTCCGCGCTGCTAC 0.473000 T """GOPC, SDC4, SLC34A2, EZR, LRIG3""" """glioblastoma, NSCLC""" 6 39 0 0 0.00361006 0 0 OR2H2 7932 broad.mit.edu 37 6 29556177 29556177 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr6:29556177G>A uc003nmr.1 + 0 495 c.456G>A c.(454-456)gtG>gtA p.V152V GABBR1_uc003nmp.4_Intron NM_007160 NP_009091 O95918 OR2H2_HUMAN Homo sapiens olfactory receptor, family 2, subfamily H, member 2 (OR2H2), mRNA. 152 defense response|mating|sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|urinary_tract(1) 14 TTGGGCTAGTGGAGTCAGTGG 0.602000 65 56 0 0 0.00361006 0 0 ZG16B 124220 broad.mit.edu 37 16 2881806 2881806 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr16:2881806G>A uc002cru.3 + 3 349 c.273G>A c.(271-273)gtG>gtA p.V91V NM_145252 NP_660295 Q96DA0 ZG16B_HUMAN Homo sapiens zymogen granule protein 16 homolog B (rat) (ZG16B), mRNA. 91 extracellular region sugar binding central_nervous_system(1)|lung(2)|ovary(1)|prostate(1) 5 GTGTCCAGGTGAAACTTGGAG 0.582000 30 31 0 0 0.00178596 0 0 OR7G3 390883 broad.mit.edu 37 19 9237262 9237262 + Missense_Mutation SNP C T T rs144765135 TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:9237262C>T uc010xkl.2 - 0 365 c.365G>A c.(364-366)cGa>cAa p.R122Q NM_001001958 NP_001001958 Q8NG95 OR7G3_HUMAN Homo sapiens olfactory receptor, family 7, subfamily G, member 3 (OR7G3), mRNA. 122 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 15 GGCCACAAATCGATCATAGGC 0.473000 61 31 0 0 0.00283554 0 0 SLC16A7 9194 broad.mit.edu 37 12 60168705 60168705 + Missense_Mutation SNP A G G TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr12:60168705A>G uc001sqs.3 + 4 928 c.629A>G c.(628-630)aAg>aGg p.K210R SLC16A7_uc001sqt.3_Missense_Mutation_p.K210R|SLC16A7_uc001squ.3_Missense_Mutation_p.K210R|SLC16A7_uc009zqi.3_Missense_Mutation_p.K111R|SLC16A7_uc010ssi.2_Missense_Mutation_p.K111R NM_004731 NP_004722 O60669 MOT2_HUMAN Homo sapiens solute carrier family 16, member 7 (monocarboxylic acid transporter 2) (SLC16A7), mRNA. 210 integral to plasma membrane|membrane fraction pyruvate secondary active transmembrane transporter activity|secondary active monocarboxylate transmembrane transporter activity|symporter activity endometrium(1)|large_intestine(14)|liver(2)|lung(11)|ovary(1)|skin(1) 30 GBM - Glioblastoma multiforme(3;0.0303) Pyruvic acid(DB00119) TCTAAAAATAAGACTGGCAAA 0.378000 24 17 0 0 0.000422831 0 0 GART 2618 broad.mit.edu 37 21 34897104 34897104 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr21:34897104G>A uc002yrz.3 - 10 1581 c.1270C>T c.(1270-1272)Cgt>Tgt p.R424C GART_uc002yrx.3_Missense_Mutation_p.R424C|GART_uc010gmd.3_Missense_Mutation_p.R86C|GART_uc002yry.3_Missense_Mutation_p.R424C|GART_uc002ysa.2_Missense_Mutation_p.R424C NM_001136005 NP_001129478 P22102 PUR2_HUMAN Homo sapiens phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase (GART), transcript variant 3, mRNA. 424 'de novo' IMP biosynthetic process|purine base biosynthetic process cytosol ATP binding|metal ion binding|methyltransferase activity|phosphoribosylamine-glycine ligase activity|phosphoribosylformylglycinamidine cyclo-ligase activity|phosphoribosylglycinamide formyltransferase activity|protein binding NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(13)|ovary(3)|prostate(5)|urinary_tract(1) 31 Pemetrexed(DB00642) GCTATGGCACGAAAGCCGACG 0.448000 31 53 0 0 0.00361006 0 0 PCDHB8 56128 broad.mit.edu 37 5 140559618 140559618 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr5:140559618C>T uc011dai.2 + 0 2248 c.2003C>T c.(2002-2004)tCc>tTc p.S668F PCDHB16_uc003liv.3_5'Flank NM_019120 NP_061993 Q9UN66 PCDB8_HUMAN Homo sapiens protocadherin beta 8 (PCDHB8), mRNA. 668 Cadherin 6. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 83 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GACGGCTTCTCCCAGCCCTAC 0.687000 26 29 0 0 0.00209593 0 0 SAMD7 344658 broad.mit.edu 37 3 169644765 169644765 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr3:169644765G>A uc003fgd.3 + 5 982 c.715G>A c.(715-717)Gaa>Aaa p.E239K SAMD7_uc003fge.3_Missense_Mutation_p.E239K|SAMD7_uc011bpo.2_Missense_Mutation_p.E140K NM_182610 NP_872416 Q7Z3H4 SAMD7_HUMAN Homo sapiens sterile alpha motif domain containing 7 (SAMD7), mRNA. 239 NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 31 all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106) GAAGTCAAGTGAAACGAATGA 0.493000 51 22 0 0 0.00278032 0 0 ZNF583 147949 broad.mit.edu 37 19 56935651 56935651 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:56935651C>T uc010ygl.1 + 4 1789 c.1624C>T c.(1624-1626)Cat>Tat p.H542Y ZNF583_uc002qnc.2_Missense_Mutation_p.H542Y|ZNF583_uc010ygm.1_Missense_Mutation_p.H542Y NM_001159860 NP_689691 Q96ND8 ZN583_HUMAN Homo sapiens zinc finger protein 583 (ZNF583), transcript variant 2, mRNA. 542 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(2)|prostate(1)|skin(1) 26 Colorectal(82;0.000256)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0564) TGAGAGAATTCATactatgga 0.418000 62 10 0 0 0.000978159 0 0 TTF1 7270 broad.mit.edu 37 9 135254449 135254449 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr9:135254449G>A uc004cbl.3 - 9 2530 c.2461C>T c.(2461-2463)Cca>Tca p.P821S TTF1_uc004cbm.3_Missense_Mutation_p.P306S|TTF1_uc011mcp.2_Non-coding_Transcript NM_007344 NP_031370 Q15361 TTF1_HUMAN Homo sapiens transcription termination factor, RNA polymerase I (TTF1), transcript variant 1, mRNA. 821 negative regulation of DNA replication|regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription nucleolus|nucleoplasm DNA binding endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05) TACTAACCTGGAAAAGTCTTT 0.383000 16 50 0 0 0.00361006 0 0 DSC1 1823 broad.mit.edu 37 18 28725576 28725576 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr18:28725576C>T uc002kwn.3 - 6 1199 c.937G>A c.(937-939)Gaa>Aaa p.E313K DSC1_uc002kwm.3_Missense_Mutation_p.E313K NM_024421 NP_077739 Q08554 DSC1_HUMAN Homo sapiens desmocollin 1 (DSC1), transcript variant Dsc1a, mRNA. 313 Cadherin 2. homophilic cell adhesion desmosome|gap junction|integral to membrane|membrane fraction calcium ion binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 53 OV - Ovarian serous cystadenocarcinoma(10;0.00778) ATCATTACTTCTCTATCCAGA 0.383000 34 23 0 0 0.00278032 0 0 CNTNAP4 85445 broad.mit.edu 37 16 76481971 76481971 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr16:76481971C>T uc002fex.1 + 3 749 c.610C>T c.(610-612)Ctg>Ttg p.L204L CNTNAP4_uc002feu.1_Silent_p.L200L|CNTNAP4_uc002fev.1_Silent_p.L113L|CNTNAP4_uc010chb.1_Silent_p.L176L|CNTNAP4_uc002few.2_Silent_p.L176L NM_033401 NP_207837 Q9C0A0 CNTP4_HUMAN Homo sapiens contactin associated protein-like 4 (CNTNAP4), transcript variant 1, mRNA. 201 cell adhesion|signal transduction integral to membrane receptor binding breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1) 64 TCAAAAATCCCTGAGCCCAAT 0.383000 26 47 0 0 0.00361006 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110464991 110464991 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr8:110464991C>T uc003yne.3 + 42 6656 c.6552C>T c.(6550-6552)ttC>ttT p.F2184F NM_177531 NP_803875 Q86WI1 PKHL1_HUMAN Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA. 2184 G8 1. immune response cytosol|extracellular space|integral to membrane receptor activity NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4) 263 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) CCTCCAATTTCTCATGGGGGG 0.383000 HNSCC(38;0.096) 10 8 0 0 0.000274275 0 0 C15orf55 256646 broad.mit.edu 37 15 34649428 34649428 + Silent SNP T C C TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr15:34649428T>C uc010ucc.2 + 7 3601 c.3219T>C c.(3217-3219)ggT>ggC p.G1073G C15orf55_uc010ucd.2_Silent_p.G1063G|C15orf55_uc001zif.3_Silent_p.G1045G NM_175741 NP_786883 Q86Y26 NUT_HUMAN Homo sapiens chromosome 15 open reading frame 55 (C15orf55), mRNA. 1045 cytoplasm|nucleus BRD4_ENST00000263377/C15orf55(24)|BRD3/C15orf55(3) large_intestine(2)|ovary(3)|skin(2) 7 all_lung(180;2.78e-08) all cancers(64;4.53e-18)|GBM - Glioblastoma multiforme(113;8.29e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0249) CCTCAGGAGGTCAGGGCAGCC 0.557000 T """BRD3, BRD4""" lethal midline carcinoma 63 12 0 0 0.00136819 0 0 NBEAP1 606 broad.mit.edu 37 15 20876510 20876510 + Silent SNP A G G TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr15:20876510A>G uc010tze.1 - 1 310 c.103T>C c.(103-105)Ttg>Ctg p.L35L NBEAP1_uc010tzd.2_Non-coding_Transcript Homo sapiens neurobeachin pseudogene 1 (NBEAP1), non-coding RNA. TGCTTCAGCAAAGGTACTCCA 0.333000 110 11 0 0 0.000673444 0 0 PSD4 23550 broad.mit.edu 37 2 113943598 113943598 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:113943598C>T uc002tjc.3 + 4 1577 c.1394C>T c.(1393-1395)tCc>tTc p.S465F PSD4_uc002tjd.3_Missense_Mutation_p.S86F|PSD4_uc002tje.3_Missense_Mutation_p.S436F|PSD4_uc002tjf.3_Missense_Mutation_p.S86F NM_012455 NP_036587 Q8NDX1 PSD4_HUMAN Homo sapiens pleckstrin and Sec7 domain containing 4 (PSD4), mRNA. 465 regulation of ARF protein signal transduction cytoplasm|plasma membrane ARF guanyl-nucleotide exchange factor activity cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 CCTGCATCGTCCCAGGAGGGC 0.612000 35 27 0 0 0.00106085 0 0 MAP3K9 4293 broad.mit.edu 37 14 71267682 71267682 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr14:71267682G>A uc001xmm.3 - 1 522 c.522C>T c.(520-522)cgC>cgT p.R174R MAP3K9_uc001xml.3_Silent_p.R174R NM_033141 NP_149132 P80192 M3K9_HUMAN Homo sapiens mitogen-activated protein kinase kinase kinase 9 (MAP3K9), mRNA. 174 Protein kinase. activation of JUN kinase activity|protein autophosphorylation ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2) 46 all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08) CAGGGTCGTGGCGAGCTGCTT 0.537000 68 27 0 0 0.00106085 0 0 ADCY3 109 broad.mit.edu 37 2 25141596 25141596 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:25141596G>A uc010ykm.2 - 0 460 c.261C>T c.(259-261)ctC>ctT p.L87L ADCY3_uc002rfs.4_Silent_p.L87L NM_004036 NP_004027 O60266 ADCY3_HUMAN Homo sapiens adenylate cyclase 3 (ADCY3), mRNA. 87 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|sensory perception of smell|synaptic transmission|transmembrane transport|water transport cytoplasm|integral to plasma membrane ATP binding|calmodulin binding|metal ion binding NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2) 44 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203) AGCAGTCAAAGAGGGCTGCAA 0.577000 27 55 0 0 0.00361006 0 0 OR5H1 26341 broad.mit.edu 37 3 97852246 97852246 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr3:97852246G>A uc011bgt.2 + 0 705 c.705G>A c.(703-705)agG>agA p.R235R NM_001005338 NP_001005338 A6NKK0 OR5H1_HUMAN Homo sapiens olfactory receptor, family 5, subfamily H, member 1 (OR5H1), mRNA. 235 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.V234L(1) breast(1)|endometrium(7)|kidney(8)|large_intestine(3)|lung(13)|ovary(1)|skin(1) 34 AAGGTGTAAGGAAAGCCTTTT 0.408000 54 66 0 0 0.00361006 0 0 BCLAF1 9774 broad.mit.edu 37 6 136582477 136582477 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr6:136582477C>T uc003qgx.1 - 11 2936 c.2683G>A c.(2683-2685)Gat>Aat p.D895N BCLAF1_uc011edb.1_Missense_Mutation_p.D174N|BCLAF1_uc003qgy.1_Missense_Mutation_p.D844N|BCLAF1_uc011edc.1_Non-coding_Transcript|BCLAF1_uc011edd.1_Non-coding_Transcript|BCLAF1_uc011ede.1_Missense_Mutation_p.D893N|BCLAF1_uc003qgw.1_Missense_Mutation_p.D722N NM_014739 NP_055554 Q9NYF8 BCLF1_HUMAN Homo sapiens BCL2-associated transcription factor 1 (BCLAF1), transcript variant 1, mRNA. 895 induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|protein binding haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1) 9 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331) ACAATCCCATCCCCTTGGTAT 0.403000 196 19 0 0 0.00188189 0 0 PEX26 55670 broad.mit.edu 37 22 18561251 18561251 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr22:18561251C>T uc002znp.4 + 1 318 c.109C>T c.(109-111)Ctt>Ttt p.L37F PEX26_uc002znt.3_Missense_Mutation_p.L37F|PEX26_uc002znq.4_Missense_Mutation_p.L37F|Em:AC008101.5_uc002zns.3_Missense_Mutation_p.R91K NM_017929 NP_060399 Q7Z412 PEX26_HUMAN Homo sapiens peroxisomal biogenesis factor 26 (PEX26), transcript variant 1, mRNA. 37 protein import into peroxisome matrix|protein import into peroxisome membrane integral to peroxisomal membrane protein C-terminus binding|protein complex binding breast(1)|kidney(2)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 ggccgTGGACCTTCTGGAGGA 0.751000 5 3 0 0 6.4e-05 0 0 HYAL4 23553 broad.mit.edu 37 7 123508568 123508568 + Missense_Mutation SNP A G G TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr7:123508568A>G uc003vlc.3 + 2 879 c.241A>G c.(241-243)Aag>Gag p.K81E HYAL4_uc011knz.2_Missense_Mutation_p.K81E NM_012269 NP_036401 Q2M3T9 HYAL4_HUMAN Homo sapiens hyaluronoglucosaminidase 4 (HYAL4), mRNA. 81 fusion of sperm to egg plasma membrane|glycosaminoglycan catabolic process integral to membrane hyalurononglucosaminidase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 23 CCCACTGGCCAAGGCCAGGGG 0.403000 35 81 0 0 0.00361006 0 0 OR9G9 390174 broad.mit.edu 37 11 56468464 56468464 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr11:56468464C>T uc010rjn.2 + 0 601 c.601C>T c.(601-603)Ctg>Ttg p.L201L OR8U8_uc001nit.2_Intron NM_001013358 NP_001013376 Q8NH87 OR9G1_HUMAN Homo sapiens olfactory receptor, family 9, subfamily G, member 9 (OR9G9), mRNA. 201 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity GATGTACTTCCTGCTGGCCTC 0.512000 102 17 0 0 0.00127121 0 0 KIAA1109 84162 broad.mit.edu 37 4 123161431 123161431 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr4:123161431C>T uc003ieh.3 + 26 4639 c.4594C>T c.(4594-4596)Cgt>Tgt p.R1532C KIAA1109_uc003iei.1_Missense_Mutation_p.R1285C|KIAA1109_uc010ins.1_Missense_Mutation_p.R875C|KIAA1109_uc003iek.2_Missense_Mutation_p.R151C NM_015312 NP_056127 Q2LD37 K1109_HUMAN Homo sapiens KIAA1109 (KIAA1109), mRNA. 1532 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 CTCATTGCATCGTCCCCTTGA 0.383000 23 31 0 0 0.00209593 0 0 OR10K2 391107 broad.mit.edu 37 1 158389856 158389856 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:158389856G>A uc010pii.2 - 0 801 c.801C>T c.(799-801)tcC>tcT p.S267S NM_001004476 NP_001004476 Q6IF99 O10K2_HUMAN Homo sapiens olfactory receptor, family 10, subfamily K, member 2 (OR10K2), mRNA. 267 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(19)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 all_hematologic(112;0.0378) CCTGGCTTGAGGAGTAGTTGG 0.403000 24 51 0 0 0.00361006 0 0 REG3G 130120 broad.mit.edu 37 2 79254218 79254218 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:79254218G>A uc002snw.3 + 3 339 c.254G>A c.(253-255)gGa>gAa p.G85E REG3G_uc002snx.3_Missense_Mutation_p.G85E|REG3G_uc010ffu.3_Intron NM_198448 NP_940850 Q6UW15 REG3G_HUMAN Homo sapiens regenerating islet-derived 3 gamma (REG3G), transcript variant 2, mRNA. 85 C-type lectin. acute-phase response extracellular region sugar binding NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(27)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 GGGGCTGAGGGATCCTTCGTG 0.552000 56 60 0 0 0.00361006 0 0 PRB3 5544 broad.mit.edu 37 12 11420704 11420704 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr12:11420704C>T uc001qzs.3 - 2 517 c.479G>A c.(478-480)gGa>gAa p.G160E PRB4_uc001qzf.1_Intron NM_006249 NP_006240 Q04118 PRB3_HUMAN Homo sapiens proline-rich protein BstNI subfamily 3 (PRB3), mRNA. 160 10 X 21 AA tandem repeats of [RH]-P-G-K- P-[EQ]-G-[PQS]-P-[PS]-Q-[GE]-G-N-[QK]- [SP]-[QR]-[GR]-P-P-P.|Pro-rich. Missing (in allele S). extracellular region Gram-negative bacterial cell surface binding breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5) 25 OV - Ovarian serous cystadenocarcinoma(49;0.201) TTCTGGCTTTCCCGGACGAGG 0.642000 43 63 0 0 0.00361006 0 0 FAM209B 388799 broad.mit.edu 37 20 55111389 55111389 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr20:55111389G>A uc010zzh.2 + 1 491 c.411G>A c.(409-411)atG>atA p.M137I FAM209B_uc002xxz.3_Missense_Mutation_p.M137I NM_001013646 NP_001013668 Q5JX69 CT107_HUMAN Homo sapiens family with sequence similarity 209, member B (FAM209B), mRNA. 137 integral to membrane AAGGTGCCATGGCAACAGGCA 0.423000 57 68 0 0 0.00361006 0 0 SUGP2 10147 broad.mit.edu 37 19 19115180 19115180 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:19115180G>A uc002nkz.1 - 6 2788 c.2768C>T c.(2767-2769)cCt>cTt p.P923L SUGP2_uc002nkx.2_Missense_Mutation_p.P909L|SUGP2_uc002nla.1_Missense_Mutation_p.P909L|SUGP2_uc002nlb.2_Missense_Mutation_p.P909L|SUGP2_uc010xqk.1_Missense_Mutation_p.P678L NM_014884 NP_055699 Q8IX01 SUGP2_HUMAN Homo sapiens SURP and G patch domain containing 2 (SUGP2), transcript variant 2, mRNA. 909 RNA splicing|mRNA processing nucleus RNA binding NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 43 CGCCCCTCCAGGAGCGGGGGc 0.711000 10 7 0 0 0.00307968 0 0 MUC16 94025 broad.mit.edu 37 19 9070567 9070567 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:9070567C>T uc002mkp.3 - 2 17083 c.16879G>A c.(16879-16881)Gaa>Aaa p.E5627K NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 5629 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 GAGCTGGTTTCTTCCACAGGG 0.532000 12 16 0 0 0.000422831 0 0 AV8S2 0 broad.mit.edu 37 14 22386477 22386477 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr14:22386477G>A uc001wch.2 + 0 126 c.48G>A c.(46-48)ctG>ctA p.L16L TRA_uc021rpa.1_Intron|TCRA_uc001wbw.2_Intron|TCRA_uc021rpe.1_Intron|TCR-alpha_uc021rpg.1_Intron|AV2S1A1_uc010aiv.1_Intron|TCRA_uc021rpj.1_Intron|AV8S2_uc010aiy.2_Non-coding_Transcript Homo sapiens mRNA for T cell receptor alpha variable 13, partial cds, clone: SEB 7. GGCTGCAGCTGGACTGTAAGT 0.408000 45 68 0 0 0.00361006 0 0 FAM129C 199786 broad.mit.edu 37 19 17654161 17654161 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:17654161G>A uc021uqj.1 + 11 1596 c.1458G>A c.(1456-1458)ctG>ctA p.L486L FAM129C_uc021uqi.1_Silent_p.L486L|FAM129C_uc002ngy.4_Silent_p.L212L|FAM129C_uc010xpu.2_Silent_p.L212L|FAM129C_uc002ngz.4_Non-coding_Transcript|FAM129C_uc010eaw.3_Silent_p.L212L|FAM129C_uc002nhb.3_Silent_p.L85L NM_173544 NP_775815 Q86XR2 NIBL2_HUMAN Homo sapiens family with sequence similarity 129, member C (FAM129C), transcript variant 1, mRNA. 486 autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(2)|lung(14)|ovary(1)|skin(3)|stomach(1) 33 TCCTGCAGCTGGCTGACCAGT 0.642000 71 32 0 0 0.0024448 0 0 TIGD5 84948 broad.mit.edu 37 8 144681846 144681846 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr8:144681846C>T uc003yyx.2 + 0 1773 c.1773C>T c.(1771-1773)gcC>gcT p.A591A EEF1D_uc011lki.2_5'Flank|EEF1D_uc003yyv.3_5'Flank|EEF1D_uc003yyu.3_5'Flank|EEF1D_uc011lkk.2_5'Flank|EEF1D_uc003yyt.3_5'Flank|EEF1D_uc003yyr.3_5'Flank|EEF1D_uc003yys.3_5'Flank|EEF1D_uc011lkl.2_5'Flank NM_032862 NP_116251 E7EWS2 E7EWS2_HUMAN Homo sapiens tigger transposable element derived 5 (TIGD5), mRNA. 591 regulation of transcription, DNA-dependent chromosome, centromeric region DNA binding NS(1)|lung(3)|ovary(1)|soft_tissue(1)|urinary_tract(1) 7 all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239) CCGGGGAGGCCGTGCGGGGGC 0.682000 12 18 0 0 0.00152264 0 0 LRFN3 79414 broad.mit.edu 37 19 36431365 36431365 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:36431365C>T uc002oco.3 + 1 1490 c.1038C>T c.(1036-1038)ttC>ttT p.F346F NM_024509 NP_078785 Q9BTN0 LRFN3_HUMAN Homo sapiens leucine rich repeat and fibronectin type III domain containing 3 (LRFN3), mRNA. 346 Ig-like. cell adhesion axon|cell junction|dendrite|integral to membrane|postsynaptic membrane|presynaptic membrane cervix(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1) 12 all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.06) CCCGCGCCTTCCCCAATGGGA 0.692000 9 10 0 0 0.00136819 0 0 FGR 2268 broad.mit.edu 37 1 27949630 27949630 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:27949630G>A uc001boj.3 - 1 398 c.252C>T c.(250-252)gcC>gcT p.A84A FGR_uc001bok.3_Silent_p.A84A|FGR_uc001bol.3_Silent_p.A84A|FGR_uc001bom.3_Silent_p.A84A NM_005248 NP_005239 P09769 FGR_HUMAN Homo sapiens Gardner-Rasheed feline sarcoma viral (v-fgr) oncogene homolog (FGR), transcript variant 1, mRNA. 84 SH3. platelet activation|response to virus cytosol ATP binding|non-membrane spanning protein tyrosine kinase activity breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(4) 16 all_lung(284;2.05e-05)|Colorectal(325;3.46e-05)|Lung NSC(340;3.67e-05)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00244)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419) AGTCATACAGGGCAATGAACA 0.557000 51 9 0 0 0.000673444 0 0 SLC29A1 2030 broad.mit.edu 37 6 44199741 44199741 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr6:44199741G>A uc003oww.1 + 10 1300 c.1108G>A c.(1108-1110)Gtc>Atc p.V370I SLC29A1_uc003owu.1_Missense_Mutation_p.V291I|SLC29A1_uc003owv.1_Missense_Mutation_p.V291I|SLC29A1_uc003owx.1_Missense_Mutation_p.V291I|SLC29A1_uc003owy.1_Missense_Mutation_p.V291I|SLC29A1_uc003owz.1_Missense_Mutation_p.V291I NM_004955 NP_004946 Q99808 S29A1_HUMAN Homo sapiens solute carrier family 29 (nucleoside transporters), member 1 (SLC29A1), nuclear gene encoding mitochondrial protein, transcript variant 5, mRNA. 291 nucleobase, nucleoside and nucleotide metabolic process apical plasma membrane|basolateral plasma membrane|integral to plasma membrane|membrane fraction nucleoside transmembrane transporter activity|protein binding p.V370G(1) endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(2) 17 all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) Troglitazone(DB00197) CTAGATCTCAGTCCTGGCTTT 0.527000 33 24 0 0 0.00332997 0 0 DNAH7 56171 broad.mit.edu 37 2 196774785 196774785 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:196774785C>T uc002utj.4 - 24 4171 c.4070G>A c.(4069-4071)gGg>gAg p.G1357E NM_018897 NP_061720 Q8WXX0 DYH7_HUMAN Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA. 1357 AAA 1 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3) 205 ATAATCCAACCCATCAGAGCA 0.408000 37 15 0 0 0.00244969 0 0 SH3KBP1 30011 broad.mit.edu 37 X 19713846 19713846 + Nonsense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chrX:19713846C>T uc004czm.3 - 4 720 c.404G>A c.(403-405)tGg>tAg p.W135* SH3KBP1_uc004czl.3_Nonsense_Mutation_p.W98* NM_031892 NP_114098 Q96B97 SH3K1_HUMAN Homo sapiens SH3-domain kinase binding protein 1 (SH3KBP1), transcript variant 1, mRNA. 135 SH3 2. apoptosis|cell-cell signaling|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway cytoplasmic vesicle membrane|cytoskeleton|cytosol|focal adhesion|nucleus|synapse|synaptosome SH3 domain binding breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(4) 29 ACCTTCCCACCATCCTTCCTC 0.473000 2 36 0 0 0.00375469 0 0 abParts 0 broad.mit.edu 37 14 106733222 106733222 + RNA SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr14:106733222C>T uc021ser.1 - 876 c.21324G>A Parts of antibodies, mostly variable regions. TAGATGTGTCCTCGGTCATGG 0.512000 148 59 0 0 0.00361006 0 0 SLC17A6 57084 broad.mit.edu 37 11 22399270 22399270 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr11:22399270G>A uc001mqk.3 + 11 2146 c.1733G>A c.(1732-1734)cGa>cAa p.R578Q NM_020346 NP_065079 Q9P2U8 VGLU2_HUMAN Homo sapiens solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 6 (SLC17A6), mRNA. 578 sodium ion transport cell junction|integral to membrane|synaptic vesicle membrane|synaptosome L-glutamate transmembrane transporter activity|symporter activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3) 50 TATAAGGACCGAGTTGATTAT 0.353000 16 10 0 0 0.000673444 0 0 TACO1 51204 broad.mit.edu 37 17 61685212 61685212 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr17:61685212C>T uc002jbd.3 + 4 956 c.744C>T c.(742-744)tcC>tcT p.S248S NM_016360 NP_057444 Q9BSH4 TACO1_HUMAN Homo sapiens translational activator of mitochondrially encoded cytochrome c oxidase I (TACO1), nuclear gene encoding mitochondrial protein, mRNA. 248 regulation of translation mitochondrion breast(2)|endometrium(1)|lung(1) 4 AGCTGGACTCCCTGGGCCTGT 0.532000 5 78 0 0 0.00361006 0 0 USP6NL 9712 broad.mit.edu 37 10 11505568 11505568 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr10:11505568G>A uc001iks.1 - 13 1453 c.1410C>T c.(1408-1410)ctC>ctT p.L470L USP6NL_uc001ikt.3_Silent_p.L453L NM_001080491 NP_001073960 Q92738 US6NL_HUMAN Homo sapiens USP6 N-terminal like (USP6NL), transcript variant 2, mRNA. 453 intracellular Rab GTPase activator activity endometrium(3)|kidney(2)|large_intestine(6)|lung(18)|prostate(1)|skin(1)|urinary_tract(1) 32 GACCCGATGGGAGTTTTCTTT 0.507000 47 60 0 0 0.00361006 0 0 LOC200726 200726 broad.mit.edu 37 2 207509180 207509180 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:207509180G>A uc010fuh.1 + 1 395 c.220G>A c.(220-222)Gat>Aat p.D74N NM_001102659 NP_001096129 Homo sapiens hCG1657980 (LOC200726), mRNA. LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.115)|Lung(261;0.133) AGGCTTCTGGGATTTTATGAT 0.493000 12 16 0 0 0.000422831 0 0 RNF103 7844 broad.mit.edu 37 2 86831597 86831597 + Missense_Mutation SNP A T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:86831597A>T uc002srn.3 - 3 2418 c.1427T>A c.(1426-1428)tTt>tAt p.F476Y RNF103_uc010ytl.2_Intron|RNF103_uc002srm.3_Missense_Mutation_p.F337Y|RNF103_uc021vkg.1_Missense_Mutation_p.F472Y|BC066991_uc002sro.3_Intron NM_005667 NP_005658 O00237 RN103_HUMAN Homo sapiens ring finger protein 103 (RNF103), transcript variant 1, mRNA. 476 ER-associated protein catabolic process|central nervous system development endoplasmic reticulum membrane|integral to membrane protein binding|ubiquitin-protein ligase activity|zinc ion binding central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(7)|skin(2) 25 TTCTACAGGAAAGTTCTGAAA 0.433000 40 36 0 0 0.00283554 0 0 LRRN2 10446 broad.mit.edu 37 1 204588132 204588132 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:204588132G>A uc021phy.1 - 0 989 c.989C>T c.(988-990)gCc>gTc p.A330V MDM4_uc001hbd.2_Intron|LRRN2_uc001hbe.1_Missense_Mutation_p.A330V|LRRN2_uc001hbf.1_Missense_Mutation_p.A330V|LRRN2_uc009xbf.1_Missense_Mutation_p.A330V|MDM4_uc001hbc.3_Intron NM_201630 NP_963924 O75325 LRRN2_HUMAN Homo sapiens leucine rich repeat neuronal 2 (LRRN2), transcript variant 2, mRNA. 330 cell adhesion integral to membrane receptor activity p.R329C(2)|p.R329R(2) central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|liver(1)|lung(22)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 38 all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143) GTGGTGGAAGGCGCGGGGGTG 0.607000 10 12 0 0 0.00136819 0 0 PCDHAC2 56134 broad.mit.edu 37 5 140257385 140257385 + Silent SNP T A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr5:140257385T>A uc003lic.2 + 0 2455 c.2328T>A c.(2326-2328)ctT>ctA p.L776L PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc011daf.2_Silent_p.L776L NM_018903 NP_061726 Q9Y5I4 PCDC2_HUMAN Homo sapiens protocadherin alpha 12 (PCDHA12), transcript variant 1, mRNA. 779 homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 45 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCCCAAGCCTTCAGCTGTCTC 0.478000 15 8 0 0 0.000442599 0 0 PGK2 5232 broad.mit.edu 37 6 49754528 49754528 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr6:49754528G>A uc003ozu.3 - 0 526 c.373C>T c.(373-375)Cat>Tat p.H125Y NM_138733 NP_620061 P07205 PGK2_HUMAN Homo sapiens phosphoglycerate kinase 2 (PGK2), mRNA. 125 glycolysis cytosol ATP binding|phosphoglycerate kinase activity autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 47 Lung NSC(77;0.0402) TCCTCCACATGAAAGCGCAGG 0.512000 61 45 0 0 0.00361006 0 0 LIPI 149998 broad.mit.edu 37 21 15517024 15517024 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr21:15517024G>A uc002yjm.3 - 8 1288 c.1278C>T c.(1276-1278)ttC>ttT p.F426F LIPI_uc021whg.1_Non-coding_Transcript|LIPI_uc010gkw.2_Silent_p.F375F|LIPI_uc021whh.1_Silent_p.F399F|LIPI_uc021whi.1_Silent_p.F240F|LIPI_uc021whj.1_Intron|LIPI_uc021whe.1_Silent_p.F370F|LIPI_uc021whf.1_Silent_p.F405F NM_198996 NP_945347 Q6XZB0 LIPI_HUMAN Homo sapiens lipase, member I (LIPI), mRNA. 405 lipid catabolic process extracellular region|extracellular space|membrane|plasma membrane heparin binding|phospholipase activity endometrium(1)|kidney(13)|large_intestine(9)|liver(3)|lung(24)|ovary(3)|urinary_tract(1) 54 Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166) TTGAGCTCTGGAAATATGTCA 0.313000 77 50 0 0 0.00361006 0 0 PCDHGC5 56097 broad.mit.edu 37 5 140780033 140780033 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr5:140780033C>T uc003lkf.2 + 0 2339 c.2339C>T c.(2338-2340)tCa>tTa p.S780L PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc011daw.2_Missense_Mutation_p.S780L|PCDHGC5_uc011dax.2_5'Flank|PCDHGC5_uc003lkh.2_5'Flank NM_018925 NP_061748 Q9Y5F6 PCDGM_HUMAN Homo sapiens protocadherin gamma subfamily B, 5 (PCDHGB5), transcript variant 1, mRNA. 799 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 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) TGTGGTGATTCATCTGGGGCC 0.403000 79 97 0 0 0.00361006 0 0 PCLO 27445 broad.mit.edu 37 7 82451921 82451921 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr7:82451921C>T uc003uhx.2 - 19 14970 c.14681G>A c.(14680-14682)gGa>gAa p.G4894E PCLO_uc003uhv.2_Missense_Mutation_p.G4894E|PCLO_uc003uht.1_Missense_Mutation_p.G336E|PCLO_uc003uhu.1_Missense_Mutation_p.G315E NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA. 4756 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 GCGAGATGGTCCATGAGAACG 0.532000 90 284 0 0 0.00361006 0 0 BRCA1 672 broad.mit.edu 37 17 41246107 41246107 + Silent SNP G A A rs80357778 TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr17:41246107G>A uc002icq.3 - 9 1673 c.1441C>T c.(1441-1443)Cta>Tta p.L481L BRCA1_uc010whp.2_Intron|BRCA1_uc010whl.2_Intron|BRCA1_uc010whm.2_Intron|BRCA1_uc002icp.4_Silent_p.L410L|BRCA1_uc002icu.3_Intron|BRCA1_uc010cyx.3_Silent_p.L434L|BRCA1_uc002ict.3_Silent_p.L481L|BRCA1_uc010whn.2_Intron|BRCA1_uc010who.2_Intron|BRCA1_uc010whq.1_Intron|BRCA1_uc002idc.1_Intron|BRCA1_uc010whr.1_Intron|BRCA1_uc002idd.3_Silent_p.L481L|BRCA1_uc002ide.1_Silent_p.L312L|BRCA1_uc010cyy.1_Silent_p.L481L|BRCA1_uc010whs.1_Silent_p.L481L|BRCA1_uc010cyz.2_Silent_p.L434L|BRCA1_uc010cza.2_Silent_p.L455L|BRCA1_uc010wht.1_Silent_p.L185L NM_007294 NP_009228 P38398 BRCA1_HUMAN Homo sapiens breast cancer 1, early onset (BRCA1), transcript variant 1, mRNA. 481 DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|G2/M transition DNA damage checkpoint|androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|double-strand break repair via homologous recombination|fatty acid biosynthetic process|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of DNA repair|positive regulation of cell cycle arrest|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of histone acetylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein K6-linked ubiquitination|protein autoubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle RNA binding|androgen receptor binding|identical protein binding|protein binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2) 120 Breast(137;0.000717) BRCA - Breast invasive adenocarcinoma(366;0.126) CCTATAATTAGATTTTCAGTT 0.393000 """D, Mis, N, F, S""" ovarian """breast, ovarian""" Homologous recombination Hereditary Breast-Ovarian Cancer, BRCA1 type TCGA Ovarian(2;0.000030) 100 40 0 0 0.00321405 0 0 ZNF573 126231 broad.mit.edu 37 19 38229581 38229581 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:38229581G>A uc002ohe.3 - 4 1879 c.1810C>T c.(1810-1812)Cat>Tat p.H604Y ZNF573_uc010efs.2_Missense_Mutation_p.H517Y|ZNF573_uc002ohd.3_Missense_Mutation_p.H602Y|ZNF573_uc002ohf.3_Missense_Mutation_p.H546Y|ZNF573_uc002ohg.3_Missense_Mutation_p.H516Y|ZNF573_uc021utv.1_Missense_Mutation_p.H516Y NM_001172690 NP_001166161 Q86YE8 ZN573_HUMAN Homo sapiens zinc finger protein 573 (ZNF573), transcript variant 3, mRNA. 584 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.H546Y(1) NS(1)|cervix(3)|endometrium(2)|large_intestine(8)|liver(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)|Lung(45;0.0813)|LUSC - Lung squamous cell carcinoma(53;0.146) CCACCAGTATGAATTTTCTGA 0.388000 29 23 0 0 0.00278032 0 0 DNAH2 146754 broad.mit.edu 37 17 7662770 7662770 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr17:7662770C>T uc002giu.1 + 14 2493 c.2479C>T c.(2479-2481)Cgg>Tgg p.R827W NM_020877 NP_065928 Q9P225 DYH2_HUMAN Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA. 827 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity p.R827W(2) NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1) 189 all_cancers(10;4.66e-07)|Prostate(122;0.081) GTACATGATTCGGCTGGACCG 0.522000 10 77 0 0 0.00361006 0 0 USP37 57695 broad.mit.edu 37 2 219346947 219346947 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:219346947G>A uc010fvs.1 - 16 2094 c.1681C>T c.(1681-1683)Ctc>Ttc p.L561F USP37_uc002vie.2_Missense_Mutation_p.L561F|USP37_uc010zkf.1_Missense_Mutation_p.L561F|USP37_uc002vif.2_Missense_Mutation_p.L561F|USP37_uc002vig.2_Missense_Mutation_p.L489F NM_020935 NP_065986 Q86T82 UBP37_HUMAN Homo sapiens ubiquitin specific peptidase 37 (USP37), mRNA. 561 ubiquitin-dependent protein catabolic process nucleus cysteine-type peptidase activity|ubiquitin thiolesterase activity NS(2)|breast(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(5)|stomach(1) 35 Renal(207;0.0915) Epithelial(149;1.08e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.00375)|Lung(261;0.00487) TTCAAATGGAGAATGAGGACC 0.383000 51 19 0 0 0.00229938 0 0 SCML2 10389 broad.mit.edu 37 X 18276309 18276309 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chrX:18276309G>A uc004cyl.2 - 9 1285 c.1128C>T c.(1126-1128)atC>atT p.I376I SCML2_uc004cyk.3_Non-coding_Transcript|SCML2_uc010nfd.1_Silent_p.I376I|SCML2_uc011miz.1_Silent_p.I310I|SCML2_uc010nfc.2_Silent_p.I112I NM_006089 NP_006080 Q9UQR0 SCML2_HUMAN Homo sapiens sex comb on midleg-like 2 (Drosophila) (SCML2), transcript variant 1, mRNA. 376 anatomical structure morphogenesis PcG protein complex DNA binding|sequence-specific DNA binding transcription factor activity p.R375K(1) breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 36 Hepatocellular(33;0.183) GCAGCTGCTGGATTCTCTTGG 0.483000 5 52 0 0 0.00361006 0 0 DIP2A 23181 broad.mit.edu 37 21 47969774 47969774 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr21:47969774C>T uc002zjo.2 + 21 2796 c.2613C>T c.(2611-2613)ttC>ttT p.F871F DIP2A_uc011afy.1_Silent_p.F807F|DIP2A_uc011afz.1_Silent_p.F867F|DIP2A_uc002zjn.3_Silent_p.F871F NM_015151 NP_055966 Q14689 DIP2A_HUMAN Homo sapiens DIP2 disco-interacting protein 2 homolog A (Drosophila) (DIP2A), transcript variant 1, mRNA. 871 multicellular organismal development nucleus catalytic activity|transcription factor binding p.S871N(1) cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 Breast(49;0.0933) Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824) AGGACAGCTTCCAGTGGATGA 0.647000 60 63 0 0 0.00361006 0 0 EHMT2 10919 broad.mit.edu 37 6 31851591 31851591 + Missense_Mutation SNP G T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr6:31851591G>T uc003nxz.1 - 21 2918 c.2908C>A c.(2908-2910)Cac>Aac p.H970N EHMT2_uc003nxx.1_Missense_Mutation_p.H168N|EHMT2_uc003nxy.1_Missense_Mutation_p.H768N|EHMT2_uc011don.1_Missense_Mutation_p.H993N|EHMT2_uc003nya.1_Missense_Mutation_p.H936N NM_006709 NP_006700 Q96KQ7 EHMT2_HUMAN Homo sapiens euchromatic histone-lysine N-methyltransferase 2 (EHMT2), transcript variant NG36/G9a, mRNA. 970 DNA methylation|peptidyl-lysine dimethylation chromosome|nucleus histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1) 21 ACCTGCAGGTGGGTGATGTTG 0.572000 424 12 0.00316338 0.00908231 0.00316338 1 0 SLC5A7 60482 broad.mit.edu 37 2 108604612 108604612 + Missense_Mutation SNP A G G TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:108604612A>G uc002tdv.3 + 1 277 c.1A>G c.(1-3)Atg>Gtg p.M1V SLC5A7_uc010ywm.2_5'UTR|SLC5A7_uc010fjj.3_Missense_Mutation_p.M1V|SLC5A7_uc010ywn.2_Intron NM_021815 NP_068587 Q9GZV3 SC5A7_HUMAN Homo sapiens solute carrier family 5 (choline transporter), member 7 (SLC5A7), mRNA. 1 acetylcholine biosynthetic process|neurotransmitter secretion integral to membrane|plasma membrane choline:sodium symporter activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 Choline(DB00122) TTAGATAAAAATGGCTTTCCA 0.413000 71 14 0 0 0.000566183 0 0 MUC16 94025 broad.mit.edu 37 19 9008208 9008208 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:9008208G>A uc002mkp.3 - 40 39548 c.39344C>T c.(39343-39345)cCc>cTc p.P13115L MUC16_uc010dwi.3_5'Flank|MUC16_uc010dwj.3_5'Flank|MUC16_uc021uog.1_Intron NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 13117 SEA 7. 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 CAGGGTGTAGGGGCCCAGCTC 0.547000 80 75 0 0 0.00361006 0 0 CACNA1H 8912 broad.mit.edu 37 16 1245497 1245497 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr16:1245497G>A uc002cks.3 + 3 725 c.477G>A c.(475-477)ggG>ggA p.G159G CACNA1H_uc002ckt.3_Silent_p.G159G NM_021098 NP_066921 O95180 CAC1H_HUMAN Homo sapiens calcium channel, voltage-dependent, T type, alpha 1H subunit (CACNA1H), transcript variant 1, mRNA. 159 aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction voltage-gated calcium channel complex low voltage-gated calcium channel activity breast(4)|endometrium(5)|kidney(2)|lung(23) 34 Hepatocellular(780;0.00369) Flunarizine(DB04841)|Mibefradil(DB01388) TGGCCTTGGGGCTGTTCGGGC 0.607000 8 6 0 0 0.00198382 0 0 KIAA1274 27143 broad.mit.edu 37 10 72298087 72298087 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr10:72298087G>A uc001jrd.4 + 11 1656 c.1375G>A c.(1375-1377)Gag>Aag p.E459K KIAA1274_uc001jre.4_5'Flank NM_014431 NP_055246 Q9ULE6 PALD_HUMAN Homo sapiens KIAA1274 (KIAA1274), mRNA. 459 breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(21)|ovary(2)|prostate(4)|urinary_tract(1) 36 TGCCCACCCTGAGCTGTACCG 0.657000 5 21 0 0 0.000878237 0 0 TP53BP1 7158 broad.mit.edu 37 15 43773106 43773106 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr15:43773106G>A uc001zrs.3 - 4 619 c.471C>T c.(469-471)tcC>tcT p.S157S TP53BP1_uc010udp.2_Silent_p.S157S|TP53BP1_uc001zrq.4_Silent_p.S162S|TP53BP1_uc001zrr.4_Silent_p.S162S|TP53BP1_uc010udq.1_Silent_p.S162S NM_005657 NP_005648 Q12888 TP53B_HUMAN Homo sapiens tumor protein p53 binding protein 1 (TP53BP1), transcript variant 3, mRNA. 157 double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter condensed chromosome kinetochore|cytoplasm|nucleoplasm RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity|p53 binding breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3) 72 all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728) GBM - Glioblastoma multiforme(94;1.59e-06) CAGCACCAAGGGAATGTGTAG 0.413000 Other conserved DNA damage response genes 35 42 0 0 0.0025221 0 0 MAGEC3 139081 broad.mit.edu 37 X 140969501 140969501 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chrX:140969501G>A uc011mwp.2 + 3 828 c.828G>A c.(826-828)ctG>ctA p.L276L NM_138702 NP_619647 Q8TD91 MAGC3_HUMAN Homo sapiens melanoma antigen family C, 3 (MAGEC3), transcript variant 1, mRNA. 276 MAGE 1. NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2) 69 Acute lymphoblastic leukemia(192;6.56e-05) ACCGCCTCCTGATTCTTATTC 0.507000 7 44 0 0 0.0025221 0 0 TRPV3 162514 broad.mit.edu 37 17 3424292 3424292 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr17:3424292G>A uc002fvr.2 - 13 2107 c.1785C>T c.(1783-1785)atC>atT p.I595I TRPV3_uc002fvs.1_Non-coding_Transcript|TRPV3_uc010vrh.1_Silent_p.I579I|TRPV3_uc010vri.1_Silent_p.I550I|TRPV3_uc010vrk.1_Non-coding_Transcript|TRPV3_uc002fvt.1_Silent_p.I595I|TRPV3_uc010vrj.1_Silent_p.I579I|TRPV3_uc010vrm.1_Non-coding_Transcript|TRPV3_uc010vrl.1_Silent_p.I579I|TRPV3_uc002fvu.3_Silent_p.I595I|TRPV3_uc010vrn.1_3'UTR NM_145068 NP_659505 Q8NET8 TRPV3_HUMAN Homo sapiens transient receptor potential cation channel, subfamily V, member 3 (TRPV3), mRNA. 595 integral to membrane calcium channel activity breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(12)|ovary(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2) 35 Menthol(DB00825) GCAAAAACACGATATATACAA 0.328000 6 123 0 0 0.00361006 0 0 LIG1 3978 broad.mit.edu 37 19 48620928 48620929 + Missense_Mutation DNP GG AA AA TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:48620928_48620929GG>AA uc002pia.1 - 25 2669_2670 c.2549_2550CC>TT c.(2548-2550)tcc>tTT p.S850F LIG1_uc010xze.1_Missense_Mutation_p.S543F|LIG1_uc002phz.1_Non-coding_Transcript|LIG1_uc002pib.1_Non-coding_Transcript|LIG1_uc010xzf.1_Missense_Mutation_p.S782F|LIG1_uc010xzg.1_Missense_Mutation_p.S819F NM_000234 NP_000225 P18858 DNLI1_HUMAN Homo sapiens ligase I, DNA, ATP-dependent (LIG1), mRNA. 850 DNA ligation involved in DNA repair|DNA strand elongation involved in DNA replication|S phase of mitotic cell cycle|anatomical structure morphogenesis|base-excision repair|cell division|double-strand break repair via homologous recombination|nucleotide-excision repair, DNA gap filling|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair nucleoplasm ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding p.L849L(2) breast(1)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(22)|prostate(2)|skin(1) 44 all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203) OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329) Bleomycin(DB00290) TGGGAGAGAGGGAGAGGTCAGC 0.658000 Nucleotide excision repair (NER) 16 6 0 0 6.4e-05 0 0 TLE2 7089 broad.mit.edu 37 19 3002402 3002402 + Nonsense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:3002402G>A uc010dth.3 - 17 2262 c.1999C>T c.(1999-2001)Cag>Tag p.Q667* TLE2_uc010xhb.2_Nonsense_Mutation_p.Q333*|TLE2_uc002lww.3_Nonsense_Mutation_p.Q666*|TLE2_uc010xhc.2_Nonsense_Mutation_p.Q544*|TLE2_uc010dti.3_Nonsense_Mutation_p.Q680* NM_003260 NP_003251 Q04725 TLE2_HUMAN Homo sapiens transducin-like enhancer of split 2 (E(sp1) homolog, Drosophila) (TLE2), transcript variant 1, mRNA. 666 Wnt receptor signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|organ morphogenesis|transcription, DNA-dependent nucleus protein binding|transcription corepressor activity breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(1) 13 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) AGGTGCAGCTGGTATTTCTCC 0.607000 6 18 0 0 0.00121646 0 0 IQCE 23288 broad.mit.edu 37 7 2638195 2638195 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr7:2638195C>T uc003sml.1 + 16 1721 c.1537C>T c.(1537-1539)Ccc>Tcc p.P513S IQCE_uc010ksm.1_Missense_Mutation_p.P513S|IQCE_uc011jvy.1_Missense_Mutation_p.P497S|IQCE_uc011jvz.1_Missense_Mutation_p.P448S|IQCE_uc003smo.4_Missense_Mutation_p.P513S|IQCE_uc003smk.4_Missense_Mutation_p.P497S|IQCE_uc003smn.4_Missense_Mutation_p.P448S NM_152558 NP_689771 Q6IPM2 IQCE_HUMAN Homo sapiens IQ motif containing E (IQCE), transcript variant 1, mRNA. 513 breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 Ovarian(82;0.0112) OV - Ovarian serous cystadenocarcinoma(56;1.23e-13) GCCCCGCTCCCCCTGCTCTGA 0.706000 35 35 0 0 0.00283554 0 0 ZDHHC7 55625 broad.mit.edu 37 16 85010782 85010782 + Silent SNP C A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr16:85010782C>A uc010voi.1 - 7 1133 c.780G>T c.(778-780)ctG>ctT p.L260L ZDHHC7_uc002fiq.2_Silent_p.L223L|ZDHHC7_uc002fir.1_Non-coding_Transcript NM_001145548 NP_001139020 Q9NXF8 ZDHC7_HUMAN Homo sapiens zinc finger, DHHC-type containing 7 (ZDHHC7), transcript variant 1, mRNA. 223 integral to membrane acyltransferase activity|protein binding|zinc ion binding large_intestine(6)|lung(4) 10 CCTCAAGGCACAGGAAGATCA 0.468000 53 28 1.39806e-14 4.07967e-14 0.001512 1 0 AK302694 0 broad.mit.edu 37 10 30998345 30998345 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr10:30998345C>T uc010qdx.1 + 7 1433 c.891C>T c.(889-891)ccC>ccT p.P297P SubName: Full=cDNA FLJ59642, highly similar to Supervillin; GTTCCATGCCCTTCCTGCAGG 0.612000 18 26 0 0 0.00178596 0 0 NDUFB3 4709 broad.mit.edu 37 2 201950311 201950311 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:201950311C>T uc002uwx.4 + 2 593 c.270C>T c.(268-270)tcC>tcT p.S90S NM_002491 NP_002482 O43676 NDUB3_HUMAN Homo sapiens NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 3, 12kDa (NDUFB3), nuclear gene encoding mitochondrial protein, mRNA. 90 mitochondrial electron transport, NADH to ubiquinone|transport integral to membrane|mitochondrial respiratory chain complex I NADH dehydrogenase (ubiquinone) activity large_intestine(1)|lung(1)|urinary_tract(1) 3 NADH(DB00157) ACCTGGAGTCCCTGAATAAAG 0.373000 28 33 0 0 0.00222228 0 0 OR10A7 121364 broad.mit.edu 37 12 55615186 55615186 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr12:55615186C>T uc010spf.2 + 0 378 c.378C>T c.(376-378)atC>atT p.I126I NM_001005280 NP_001005280 Q8NGE5 O10A7_HUMAN Homo sapiens olfactory receptor, family 10, subfamily A, member 7 (OR10A7), mRNA. 126 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|kidney(1)|lung(11)|ovary(4)|prostate(2)|skin(3) 24 TTGTGGCCATCTGTAACCCTC 0.463000 55 25 0 0 0.00278032 0 0 SGCA 6442 broad.mit.edu 37 17 48244740 48244740 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr17:48244740G>A uc002iqi.3 + 1 85 c.49G>A c.(49-51)Ggg>Agg p.G17R SGCA_uc010wmh.1_5'UTR|SGCA_uc002iqj.3_Missense_Mutation_p.G17R|SGCA_uc010wmi.2_Non-coding_Transcript NM_000023 NP_000014 Q16586 SGCA_HUMAN Homo sapiens sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein) (SGCA), transcript variant 1, mRNA. 17 muscle contraction|muscle organ development cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma calcium ion binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(7)|ovary(2)|skin(1) 14 TCTCCTGGCAGGGCTGGGGGA 0.617000 30 23 0 0 0.00395357 0 0 NT5C1A 84618 broad.mit.edu 37 1 40131815 40131815 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:40131815C>T uc001cdq.1 - 1 229 c.229G>A c.(229-231)Gag>Aag p.E77K NM_032526 NP_115915 Q9BXI3 5NT1A_HUMAN Homo sapiens 5'-nucleotidase, cytosolic IA (NT5C1A), mRNA. 77 purine base metabolic process|purine nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process cytosol 5'-nucleotidase activity|magnesium ion binding|nucleotide binding breast(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(2) 15 Lung NSC(20;3.81e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0393) OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;4.3e-17)|all cancers(16;8.48e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457) ACGTACTCCTCCACGCCCTGC 0.587000 65 16 0 0 0.00152264 0 0 FAM55A 120400 broad.mit.edu 37 11 114401269 114401269 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr11:114401269C>T uc001ppa.3 - 2 452 c.35G>A c.(34-36)gGa>gAa p.G12E FAM55A_uc010rxd.2_5'UTR|FAM55A_uc001ppb.1_Missense_Mutation_p.G154E NM_152315 NP_689528 Q8N323 FA55A_HUMAN Homo sapiens family with sequence similarity 55, member A (FAM55A), mRNA. 154 extracellular region p.G12G(1) breast(1)|endometrium(1)|large_intestine(2)|lung(10)|stomach(1)|upper_aerodigestive_tract(2) 17 all_cancers(61;8.53e-16)|all_epithelial(67;1.71e-08)|all_hematologic(158;3.05e-05)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0194)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906) BRCA - Breast invasive adenocarcinoma(274;3.02e-06)|Epithelial(105;0.000144)|all cancers(92;0.00106) CATCACCTTTCCTGAAGCACC 0.572000 6 18 0 0 0.000958276 0 0 MORC1 27136 broad.mit.edu 37 3 108751625 108751625 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr3:108751625C>T uc003dxl.3 - 15 1594 c.1507G>A c.(1507-1509)Gaa>Aaa p.E503K MORC1_uc011bhn.2_Missense_Mutation_p.E503K NM_014429 NP_055244 Q86VD1 MORC1_HUMAN Homo sapiens MORC family CW-type zinc finger 1 (MORC1), mRNA. 503 cell differentiation|multicellular organismal development|spermatogenesis nucleus ATP binding|zinc ion binding breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3) 105 AATTCTTTTTCCTGATAATTA 0.289000 37 40 0 0 0.00361006 0 0 OBSCN 84033 broad.mit.edu 37 1 228475871 228475871 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:228475871G>A uc009xez.1 + 36 9965 c.9921G>A c.(9919-9921)aaG>aaA p.K3307K OBSCN_uc001hsn.3_Silent_p.K3307K|OBSCN_uc001hsq.1_Silent_p.K563K NM_001098623 NP_001092093 Q5VST9 OBSCN_HUMAN Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA. 3307 Ig-like 33. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction M band|Z disc|cytosol ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|structural constituent of muscle|titin binding NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) AGTGGAGAAAGGGGTCCGAGA 0.632000 71 30 0 0 0.00283554 0 0 TNFSF11 8600 broad.mit.edu 37 13 43181040 43181040 + Nonsense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr13:43181040C>T uc001uyu.2 + 4 1089 c.940C>T c.(940-942)Cga>Tga p.R314* TNFSF11_uc001uyt.2_Nonsense_Mutation_p.R241* NM_003701 NP_143026 O14788 TNF11_HUMAN Homo sapiens tumor necrosis factor (ligand) superfamily, member 11 (TNFSF11), transcript variant 1, mRNA. 314 immune response|monocyte chemotaxis|osteoclast differentiation|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell activation|positive regulation of bone resorption|positive regulation of corticotropin-releasing hormone secretion|positive regulation of fever generation by positive regulation of prostaglandin secretion|positive regulation of homotypic cell-cell adhesion|positive regulation of osteoclast differentiation cytoplasm|extracellular space|integral to plasma membrane cytokine activity|receptor activity|tumor necrosis factor receptor binding kidney(1)|large_intestine(4)|lung(3)|prostate(1)|urinary_tract(1) 10 Lung NSC(96;1.11e-05)|Breast(139;0.00868)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114) OV - Ovarian serous cystadenocarcinoma(117;0.000249)|GBM - Glioblastoma multiforme(144;0.00119)|BRCA - Breast invasive adenocarcinoma(63;0.073) TTTTAAAGTTCGAGATATAGA 0.408000 56 20 0 0 0.00121646 0 0 KIAA0232 9778 broad.mit.edu 37 4 6865634 6865634 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr4:6865634C>T uc003gjr.4 + 6 3988 c.3525C>T c.(3523-3525)ttC>ttT p.F1175F KIAA0232_uc003gjq.4_Silent_p.F1175F NM_014743 NP_055558 Q92628 K0232_HUMAN Homo sapiens KIAA0232 (KIAA0232), transcript variant 1, mRNA. 1175 ATP binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(12)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1) 41 CTGGAAAATTCCTTCCCAGGT 0.413000 26 22 0 0 0.00332997 0 0 SH3BGR 6450 broad.mit.edu 37 21 40823881 40823881 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr21:40823881G>A uc002yya.3 + 0 102 c.48G>A c.(46-48)cgG>cgA p.R16R SH3BGR_uc002yxz.3_Intron NM_007341 NP_001001713 P55822 SH3BG_HUMAN Homo sapiens SH3 domain binding glutamic acid-rich protein (SH3BGR), transcript variant 1, mRNA. 16 protein complex assembly cytosol SH3 domain binding|SH3/SH2 adaptor activity NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(2) 8 all_cancers(19;1.16e-23)|all_epithelial(19;1.22e-20)|Prostate(19;2.55e-06)|Breast(209;0.0133) STAD - Stomach adenocarcinoma(101;0.00151) AGTTGGAGCGGGACTGCCGGA 0.592000 38 26 0 0 0.00395357 0 0 FAM153B 202134 broad.mit.edu 37 5 175530241 175530241 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr5:175530241G>A uc003mdk.3 + 12 733 c.676G>A c.(676-678)Gat>Aat p.D226N FAM153B_uc021yic.1_Intron NM_001079529 NP_001072997 P0C7A2 F153B_HUMAN Homo sapiens family with sequence similarity 153, member B (FAM153B), mRNA. 226 p.R225M(1) endometrium(3)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|prostate(1) 16 all_cancers(89;0.00406)|Renal(175;0.000269)|Lung NSC(126;0.0103)|all_lung(126;0.0164) Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183) Kidney(146;0.0965) TCTGATCAGGGATGTACTTCA 0.502000 193 56 0 0 0.00361006 0 0 CHD9 80205 broad.mit.edu 37 16 53352166 53352166 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr16:53352166C>T uc002ehb.3 + 35 7791 c.7627C>T c.(7627-7629)Cgt>Tgt p.R2543C CHD9_uc002egy.3_Missense_Mutation_p.R2527C|CHD9_uc002ehc.3_Missense_Mutation_p.R2528C|CHD9_uc002ehf.3_Missense_Mutation_p.R1641C|CHD9_uc002ehg.2_Missense_Mutation_p.R1658C|CHD9_uc010cbw.3_Missense_Mutation_p.R609C NM_025134 NP_079410 Q3L8U1 CHD9_HUMAN Homo sapiens chromodomain helicase DNA binding protein 9 (CHD9), mRNA. 2543 cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleoplasm ATP binding|DNA binding|helicase activity|protein binding p.R2542I(1) NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 78 all_cancers(37;0.0212) AAAAAGACACCGTTGCAGAAA 0.333000 27 15 0 0 0.000422831 0 0 NEB 4703 broad.mit.edu 37 2 152522714 152522714 + Nonsense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:152522714G>A uc021vrb.1 - 38 4950 c.4921C>T c.(4921-4923)Cag>Tag p.Q1641* NEB_uc002txu.3_Nonsense_Mutation_p.Q1641*|NEB_uc021vrc.1_Nonsense_Mutation_p.Q1641*|NEB_uc010fnx.3_Nonsense_Mutation_p.Q1641*|NEB_uc021vrd.1_Nonsense_Mutation_p.Q1641* NM_004543 NP_004534 P20929 NEBU_HUMAN Homo sapiens nebulin (NEB), transcript variant 3, mRNA. 1641 muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development Z disc|actin cytoskeleton|cytosol actin binding|structural constituent of muscle NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2) 301 BRCA - Breast invasive adenocarcinoma(221;0.219) GCAACCTCCTGAGATTTCTTT 0.502000 111 89 0 0 0.00361006 0 0 ZNF785 146540 broad.mit.edu 37 16 30594027 30594028 + RNA DNP GG AA AA TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr16:30594027_30594028GG>AA uc002dyu.3 + 1 c.334_335GG>AA ZNF785_uc002dyv.2_Missense_Mutation_p.H343Y|ZNF785_uc002dyw.2_Missense_Mutation_p.H358Y|ZNF785_uc010vez.2_Missense_Mutation_p.H323Y A8K8V0 ZN785_HUMAN Homo sapiens cDNA clone IMAGE:4906981, partial cds. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 9 ATCCACCGATGGGCTTCCAGGG 0.668000 32 62 0 0 6.4e-05 0 0 NEFL 4747 broad.mit.edu 37 8 24811210 24811210 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr8:24811210G>A uc003xee.3 - 2 1371 c.1269C>T c.(1267-1269)gcC>gcT p.A423A NM_006158 NP_006149 P07196 NFL_HUMAN Homo sapiens neurofilament, light polypeptide (NEFL), mRNA. 423 Tail, subdomain A.|Tail. anterograde axon cargo transport|axon transport of mitochondrion|neurofilament bundle assembly|retrograde axon cargo transport|synaptic transmission cytosol|neurofilament identical protein binding|protein C-terminus binding|structural constituent of cytoskeleton central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2) 21 Ovarian(32;0.00965)|Prostate(55;0.157) UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375) AACCGCCGTAGGCAGATCGGC 0.567000 38 21 0 0 0.00229938 0 0 TP53 7157 broad.mit.edu 37 17 7578212 7578212 + Nonsense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr17:7578212G>A uc002gim.2 - 5 831 c.637C>T c.(637-639)Cga>Tga p.R213* TP53_uc002gig.1_Nonsense_Mutation_p.R213*|TP53_uc002gih.3_Nonsense_Mutation_p.R213*|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Nonsense_Mutation_p.R81*|TP53_uc010cnf.1_Nonsense_Mutation_p.R81*|TP53_uc002gii.1_Nonsense_Mutation_p.R81*|TP53_uc010cni.1_Nonsense_Mutation_p.R213*|TP53_uc010cnh.1_Nonsense_Mutation_p.R213*|TP53_uc002gij.2_Nonsense_Mutation_p.R213*|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Nonsense_Mutation_p.R120*|TP53_uc002gio.2_Nonsense_Mutation_p.R81*|TP53_uc010vug.2_Nonsense_Mutation_p.R174*|DL476358_uc021tph.1_5'Flank NM_001126112 NP_001119587 P04637 P53_HUMAN Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA. 213 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (in sporadic cancers; somatic mutation). DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|Ras protein signal transduction|activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.R213*(467)|p.R213L(35)|p.R213Q(27)|p.R81*(21)|p.R120*(21)|p.R213fs*34(13)|p.F212fs*3(11)|p.0?(8)|p.R213G(8)|p.R213P(5)|p.?(5)|p.R213R(5)|p.R213fs*35(4)|p.F212L(3)|p.D208_V216delDRNTFRHSV(2)|p.D207_R213delDDRNTFR(2)|p.T211_S215delTFRHS(2)|p.F212I(2)|p.F212S(2)|p.R209_R213delRNTFR(2)|p.R213fs*2(2)|p.R213_S215>X(2)|p.D207_V216del10(2)|p.R213fs*32(2)|p.R213W(2)|p.K164_P219del(1)|p.R120G(1)|p.T211_F212insX(1)|p.F212fs*4(1)|p.R213*33(1)|p.R81fs*>11(1)|p.D208fs*1(1)|p.R213>L(1)|p.R120fs*35(1)|p.R81G(1)|p.F212Y(1)|p.T211fs*28(1)|p.R209fs*6(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) ACACTATGTCGAAAAGTGTTT 0.532000 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 8 49 0 0 0.00361006 0 0 KIAA0240 23506 broad.mit.edu 37 6 42796807 42796807 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr6:42796807C>T uc003osn.1 + 5 887 c.736C>T c.(736-738)Cca>Tca p.P246S KIAA0240_uc003osm.1_Missense_Mutation_p.P246S|KIAA0240_uc011duw.1_Missense_Mutation_p.P246S|KIAA0240_uc003oso.1_Missense_Mutation_p.P246S|KIAA0240_uc003osp.1_Missense_Mutation_p.P246S NM_015349 NP_056164 Q6AI39 K0240_HUMAN Homo sapiens KIAA0240 (KIAA0240), mRNA. 246 NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(3)|skin(3) 44 Colorectal(47;0.196) Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|all cancers(41;0.00524)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.104) GCAGCAAGCCCCATCAAATGT 0.443000 63 40 0 0 0.00128727 0 0 FSTL4 23105 broad.mit.edu 37 5 132585175 132585176 + Missense_Mutation DNP CC TT TT rs151107205 TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr5:132585175_132585176CC>TT uc003kyn.1 - 6 1038_1039 c.820_821GG>AA c.(820-822)gga>AAa p.G274K NM_015082 NP_055897 Q6MZW2 FSTL4_HUMAN Homo sapiens follistatin-like 4 (FSTL4), mRNA. 274 Ig-like 1. extracellular region calcium ion binding autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(8)|skin(2)|upper_aerodigestive_tract(1) 23 all_cancers(142;0.244) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) CCTCAGGTCTCCATGGACGGCG 0.584000 22 18 0 0 6.4e-05 0 0 MAN2A1 4124 broad.mit.edu 37 5 109183456 109183456 + Nonsense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr5:109183456C>T uc003kou.1 + 18 3904 c.2941C>T c.(2941-2943)Cga>Tga p.R981* NM_002372 NP_002363 Q16706 MA2A1_HUMAN Homo sapiens mannosidase, alpha, class 2A, member 1 (MAN2A1), mRNA. 981 mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding breast(2)|central_nervous_system(2)|endometrium(7)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 55 all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244) OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141) TAATCTATTTCGAATACTACT 0.343000 10 21 0 0 0.000878237 0 0 LDHC 3948 broad.mit.edu 37 11 18472617 18472617 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr11:18472617C>T uc001mon.4 + 7 1054 c.942C>T c.(940-942)gcC>gcT p.A314A LDHC_uc001mom.4_Silent_p.A314A|LDHC_uc009yhp.3_3'UTR|LDHC_uc001moo.4_Silent_p.A198A|LDHC_uc009yhq.3_Non-coding_Transcript|LDHC_uc009yhr.3_3'UTR NM_017448 NP_059144 P07864 LDHC_HUMAN Homo sapiens lactate dehydrogenase C (LDHC), transcript variant 2, mRNA. 314 glycolysis cytoplasm L-lactate dehydrogenase activity|binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 NADH(DB00157) AGGAGGAGGCCCTTTTCAAGA 0.368000 44 57 0 0 0.00361006 0 0 ADAMDEC1 27299 broad.mit.edu 37 8 24257714 24257714 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr8:24257714G>A uc003xdz.2 + 10 1263 c.1043G>A c.(1042-1044)gGa>gAa p.G348E ADAMDEC1_uc010lub.2_Missense_Mutation_p.G269E|ADAMDEC1_uc011lab.1_Missense_Mutation_p.G269E NM_014479 NP_001138744 O15204 ADEC1_HUMAN Homo sapiens ADAM-like, decysin 1 (ADAMDEC1), transcript variant 1, mRNA. 348 Peptidase M12B. integrin-mediated signaling pathway|negative regulation of cell adhesion|proteolysis extracellular region|integral to membrane integrin binding|metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|large_intestine(4)|skin(2)|stomach(1) 9 Prostate(55;0.0181) Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168) GCTCTTGTAGGAGTGATGTCA 0.373000 9 15 0 0 0.00316338 0 0 LRP1 4035 broad.mit.edu 37 12 57598218 57598218 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr12:57598218C>T uc001snd.3 + 70 11443 c.10977C>T c.(10975-10977)ttC>ttT p.F3659F NM_002332 NP_002323 Q07954 LRP1_HUMAN Homo sapiens low density lipoprotein receptor-related protein 1 (LRP1), mRNA. 3659 LDL-receptor class A 29. aorta morphogenesis|apoptotic cell clearance|negative regulation of Wnt receptor signaling pathway|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity coated pit|integral to plasma membrane|nucleus apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 184 BRCA - Breast invasive adenocarcinoma(357;0.0103) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031) TGGACGAGTTCCAGTGCAACA 0.612000 44 22 0 0 0.00152264 0 0 LMTK3 114783 broad.mit.edu 37 19 49000740 49000740 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:49000740C>T uc002pjk.3 - 11 3673 c.3673G>A c.(3673-3675)Gac>Aac p.D1225N NM_001080434 NP_001073903 Homo sapiens lemur tyrosine kinase 3 (LMTK3), mRNA. breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(9)|prostate(1) 16 all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231) TTGGGGGGGTCCCCGTCTCCG 0.711000 18 11 0 0 0.00136819 0 0 BRMS1 25855 broad.mit.edu 37 11 66105737 66105737 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr11:66105737G>A uc001oho.1 - 8 857 c.710C>T c.(709-711)tCc>tTc p.S237F RIN1_uc010roy.1_5'Flank|RIN1_uc009yrd.1_5'Flank|RIN1_uc001ohn.1_5'Flank|RIN1_uc010roz.1_5'Flank|RIN1_uc010rpa.1_5'Flank|BRMS1_uc001ohp.1_Missense_Mutation_p.S237F|BRMS1_uc009yre.3_3'UTR NM_001024957 NP_001020128 Q9HCU9 BRMS1_HUMAN Homo sapiens breast cancer metastasis suppressor 1 (BRMS1), transcript variant 2, mRNA. 237 apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of anti-apoptosis|negative regulation of transcription, DNA-dependent|positive regulation of anoikis|positive regulation of protein deacetylation|transcription, DNA-dependent cytoplasm|nucleus NF-kappaB binding large_intestine(1)|liver(1)|lung(1)|prostate(1)|skin(1) 5 CTTCTGAGGGGACACAGCTGC 0.592000 5 6 0 0 0.00116845 0 0 CDC14B 8555 broad.mit.edu 37 9 99381652 99381652 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr9:99381652C>T uc004awj.3 - 0 461 c.9G>A c.(7-9)cgG>cgA p.R3R CDC14B_uc004awk.3_Silent_p.R3R|CDC14B_uc004awl.3_Non-coding_Transcript NM_033331 NP_201588 O60729 CC14B_HUMAN Homo sapiens CDC14 cell division cycle 14 homolog B (S. cerevisiae) (CDC14B), transcript variant 2, mRNA. 3 DNA repair|G2/M transition DNA damage checkpoint|activation of anaphase-promoting complex activity nucleolus|nucleoplasm protein binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1) 15 Acute lymphoblastic leukemia(62;0.0559) GCTCGCTTTTCCGCTTCATGG 0.791000 1 6 0 0 0.00307968 0 0 ZSWIM4 65249 broad.mit.edu 37 19 13923865 13923865 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:13923865C>T uc002mxh.1 + 5 1256 c.1067C>T c.(1066-1068)gCa>gTa p.A356V ZSWIM4_uc010xng.1_Missense_Mutation_p.A162V NM_023072 NP_075560 Q9H7M6 ZSWM4_HUMAN Homo sapiens zinc finger, SWIM-type containing 4 (ZSWIM4), mRNA. 356 zinc ion binding central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 27 OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19) GAGGAAAGGGCAGGCTGGCTC 0.637000 21 23 0 0 0.00332997 0 0 TNR 7143 broad.mit.edu 37 1 175348708 175348708 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:175348708G>A uc001gkp.1 - 6 2024 c.1943C>T c.(1942-1944)aCc>aTc p.T648I TNR_uc009wwu.1_Missense_Mutation_p.T648I NM_003285 NP_003276 Q92752 TENR_HUMAN Homo sapiens tenascin R (restrictin, janusin) (TNR), mRNA. 648 Fibronectin type-III 4. axon guidance|cell adhesion|signal transduction proteinaceous extracellular matrix NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 177 Renal(580;0.146) GGCCCTGGTGGTTGGACCAAT 0.532000 11 17 0 0 0.00121646 0 0 APOBEC3D 140564 broad.mit.edu 37 22 39421256 39421256 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr22:39421256C>T uc003awt.4 + 2 799 c.392C>T c.(391-393)tCt>tTt p.S131F APOBEC3D_uc021wpq.1_Missense_Mutation_p.S131F|APOBEC3D_uc010gxu.3_Intron|APOBEC3D_uc003awu.4_Intron NM_152426 NP_689639 Q96AK3 ABC3D_HUMAN Homo sapiens apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3D (APOBEC3D), mRNA. 131 negative regulation of transposition hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|zinc ion binding breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2) 11 Melanoma(58;0.04) CTGACCATCTCTGCCGCCCGC 0.562000 70 44 0 0 0.00361006 0 0 IGLL5 100423062 broad.mit.edu 37 22 23235906 23235906 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr22:23235906G>A uc021wmq.1 + 1 510 c.236G>A c.(235-237)aGa>aAa p.R79K abParts_uc021wml.1_Intron|abParts_uc021wmm.1_Intron|IGLL5_uc011aiw.2_Missense_Mutation_p.R78K|IGLL5_uc010gtu.2_Intron|IGLL5_uc021wmr.1_5'Flank NM_001178126 NP_001171597 B9A064 IGLL5_HUMAN Homo sapiens immunoglobulin lambda-like polypeptide 5 (IGLL5), transcript variant 1, mRNA. 78 extracellular region p.A79V(1) breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|urinary_tract(1) 7 AGCCCCCAGAGAGCAGACCCC 0.652000 7 9 0 0 0.000978159 0 0 SESTD1 91404 broad.mit.edu 37 2 180041227 180041227 + Missense_Mutation SNP T G G TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:180041227T>G uc002uni.4 - 3 353 c.203A>C c.(202-204)gAt>gCt p.D68A NM_178123 NP_835224 Q86VW0 SESD1_HUMAN Homo sapiens SEC14 and spectrin domains 1 (SESTD1), mRNA. 68 CRAL-TRIO. regulation of calcium ion transport via voltage-gated calcium channel activity phosphatidic acid binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylinositol-4-phosphate binding|phosphatidylinositol-5-phosphate binding|protein binding breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(3) 30 OV - Ovarian serous cystadenocarcinoma(117;0.0344)|Epithelial(96;0.0531)|all cancers(119;0.147) TTTTCTGCCATCCACAATCAC 0.348000 26 16 0 0 0.000566183 0 0 CARD10 29775 broad.mit.edu 37 22 37888516 37888516 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr22:37888516C>T uc003asx.1 - 17 2694 c.2677G>A c.(2677-2679)Gga>Aga p.G893R CARD10_uc003ast.1_Non-coding_Transcript|CARD10_uc003asu.1_5'UTR|CARD10_uc003asv.1_5'UTR|CARD10_uc011ank.1_Missense_Mutation_p.G211R|CARD10_uc003asw.1_Missense_Mutation_p.G607R|CARD10_uc003asy.1_Missense_Mutation_p.G893R NM_014550 NP_055365 Q9BWT7 CAR10_HUMAN Homo sapiens caspase recruitment domain family, member 10 (CARD10), mRNA. 893 activation of NF-kappaB-inducing kinase activity|protein complex assembly|regulation of apoptosis CBM complex receptor signaling complex scaffold activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 17 Melanoma(58;0.0574) TTGGGGGCTCCAGGCGCTGAG 0.672000 79 33 0 0 0.00128727 0 0 BACE1 23621 broad.mit.edu 37 11 117166040 117166040 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr11:117166040C>T uc001pqz.3 - 2 835 c.374G>A c.(373-375)cGg>cAg p.R125Q BACE1_uc001pqw.3_Missense_Mutation_p.R125Q|BACE1_uc001pqx.3_Missense_Mutation_p.R125Q|BACE1_uc001pqy.3_Missense_Mutation_p.R125Q|BACE1_uc001pra.1_Missense_Mutation_p.R125Q|BACE1_uc010rxg.2_Missense_Mutation_p.R25Q|BACE1_uc010rxh.2_Missense_Mutation_p.R25Q NM_012104 NP_036236 P56817 BACE1_HUMAN Homo sapiens beta-site APP-cleaving enzyme 1 (BACE1), transcript variant a, mRNA. 125 beta-amyloid metabolic process|membrane protein ectodomain proteolysis cell surface|cytoplasmic vesicle membrane|endoplasmic reticulum|endosome|integral to plasma membrane|trans-Golgi network aspartic-type endopeptidase activity|beta-aspartyl-peptidase activity|protein binding breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|prostate(1) 19 all_hematologic(175;0.0487) Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000563)|all cancers(92;0.0032) CACACCCTTCCGGAGGTCCCG 0.557000 4 23 0 0 0.00395357 0 0 KIAA1462 57608 broad.mit.edu 37 10 30315884 30315884 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr10:30315884C>T uc009xle.2 - 2 3330 c.3193G>A c.(3193-3195)Gag>Aag p.E1065K KIAA1462_uc001iux.3_Missense_Mutation_p.E1065K|KIAA1462_uc001iuy.3_Intron|KIAA1462_uc001iuz.3_Missense_Mutation_p.E927K NM_020848 NP_065899 Q9P266 K1462_HUMAN Homo sapiens KIAA1462 (KIAA1462), mRNA. 1065 breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 75 AAAGACCCCTCTAGCTCACTG 0.592000 120 43 0 0 0.00361006 0 0 ADAM2 2515 broad.mit.edu 37 8 39604031 39604031 + Nonsense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr8:39604031G>A uc003xnj.3 - 18 2209 c.2134C>T c.(2134-2136)Caa>Taa p.Q712* ADAM2_uc003xnk.3_Nonsense_Mutation_p.Q693*|ADAM2_uc011lck.2_Nonsense_Mutation_p.Q649*|ADAM2_uc003xnl.3_Nonsense_Mutation_p.Q556* NM_001464 NP_001455 Q99965 ADAM2_HUMAN Homo sapiens ADAM metallopeptidase domain 2 (ADAM2), mRNA. 712 cell adhesion|fusion of sperm to egg plasma membrane|proteolysis integral to plasma membrane integrin binding|metalloendopeptidase activity|zinc ion binding haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1) 53 all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246) LUSC - Lung squamous cell carcinoma(45;0.000149) READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162) TTTTTCCTTTGGAAATTAACT 0.284000 82 56 0 0 0.00361006 0 0 CFB 629 broad.mit.edu 37 6 31902149 31902149 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr6:31902149C>T uc003nye.4 + 5 1186 c.922C>T c.(922-924)Ctc>Ttc p.L308F CFB_uc003nyc.2_Intron|CFB_uc011doo.2_Intron|CFB_uc011dop.2_Intron|CFB_uc003nyf.3_Intron|CFB_uc010jtk.3_Intron|CFB_uc011doq.2_Intron|CFB_uc011dor.2_Intron|CFB_uc003nyh.2_5'Flank NM_000063 NP_000054 P00751 CFAB_HUMAN Homo sapiens complement component 2 (C2), transcript variant 1, mRNA. 15 VWFA. complement activation, alternative pathway|proteolysis extracellular region|plasma membrane complement binding|serine-type endopeptidase activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1) 21 CCTTCCCCTCCTCAGAACCCC 0.493000 52 36 0 0 0.00375469 0 0 abParts 0 broad.mit.edu 37 14 106331497 106331497 + Splice_Site SNP A T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr14:106331497A>T uc021ser.1 - 4288 c.62301_splice c.e4288+0 DKFZp686O16217_uc001yrs.3_5'Flank|DKFZp686O16217_uc001yrt.3_5'Flank|IGHE_uc001yrw.1_5'Flank|IGHE_uc001yrx.2_5'Flank|IGHE_uc001yrz.2_5'Flank|IGHG1_uc001yse.3_5'Flank|IGHE_uc001ysj.3_5'Flank|IGHE_uc001ysk.1_5'Flank|IGHE_uc001ysl.1_5'Flank|IGHE_uc001ysm.2_5'Flank|IGHE_uc001ysn.1_5'Flank|abParts_uc021set.1_5'Flank Parts of antibodies, mostly variable regions. CCATACAAAAACACACCCTCC 0.607000 8 6 0 0 0.00198382 0 0 KIF2A 3796 broad.mit.edu 37 5 61648535 61648535 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr5:61648535C>T uc003jsy.4 + 4 766 c.455C>T c.(454-456)cCt>cTt p.P152L KIF2A_uc003jsz.4_Missense_Mutation_p.P152L|KIF2A_uc003jsx.4_Missense_Mutation_p.P132L|KIF2A_uc010iwp.3_Intron|KIF2A_uc010iwq.3_5'UTR NM_004520 NP_004511 O00139 KIF2A_HUMAN Homo sapiens kinesin heavy chain member 2A (KIF2A), transcript variant 1, mRNA. 152 Globular (Potential). blood coagulation|cell differentiation|cell division|microtubule-based movement|mitotic prometaphase|mitotic spindle organization|nervous system development centrosome|cytosol|microtubule|spindle pole ATP binding|microtubule motor activity|protein binding NS(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(3)|ovary(1)|skin(1) 15 Lung NSC(810;8.94e-06)|Prostate(74;0.0132)|Ovarian(174;0.051)|Breast(144;0.077) Lung(70;0.14) TTTGGACCCCCTTGTATGTAA 0.378000 23 13 0 0 0.00185496 0 0 ADCY1 107 broad.mit.edu 37 7 45743207 45743207 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr7:45743207C>T uc003tne.4 + 15 2598 c.2580C>T c.(2578-2580)taC>taT p.Y860Y NM_021116 NP_066939 Q08828 ADCY1_HUMAN Homo sapiens adenylate cyclase 1 (brain) (ADCY1), mRNA. 860 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 71 Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640) AGGACCTCTACTACCAGTCCT 0.582000 36 31 0 0 0.00178596 0 0 LCT 3938 broad.mit.edu 37 2 136566074 136566074 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:136566074C>T uc002tuu.1 - 7 3854 c.3843G>A c.(3841-3843)ccG>ccA p.P1281P NM_002299 NP_002290 P09848 LPH_HUMAN Homo sapiens lactase (LCT), mRNA. 1281 4 X approximate repeats. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|integral to plasma membrane|membrane fraction cation binding|glycosylceramidase activity|lactase activity breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4) 124 BRCA - Breast invasive adenocarcinoma(221;0.169) CCTCCGTGTTCGGATTGGTCA 0.488000 132 72 0 0 0.00361006 0 0 SLC18A2 6571 broad.mit.edu 37 10 119013971 119013971 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr10:119013971G>A uc001ldd.2 + 5 826 c.663G>A c.(661-663)atG>atA p.M221I SLC18A2_uc009xyy.2_Missense_Mutation_p.M18I NM_003054 NP_003045 Q05940 VMAT2_HUMAN Homo sapiens solute carrier family 18 (vesicular monoamine), member 2 (SLC18A2), mRNA. 221 neurotransmitter secretion clathrin sculpted monoamine transport vesicle membrane|integral to plasma membrane|membrane fraction monoamine transmembrane transporter activity NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16) 29 Colorectal(252;0.19) all cancers(201;0.029) Alseroxylon(DB00386)|Reserpine(DB00206)|Tetrabenazine(DB04844) GCAACGTCATGGGAATCGCCT 0.592000 6 29 0 0 0.00170553 0 0 CCPG1 9236 broad.mit.edu 37 15 55664196 55664196 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr15:55664196G>A uc010bfk.2 - 5 800 c.501C>T c.(499-501)acC>acT p.T167T CCPG1_uc002acy.3_Silent_p.T167T|CCPG1_uc002acu.2_Silent_p.T23T|CCPG1_uc002acz.2_Silent_p.T167T|CCPG1_uc002acw.2_5'UTR|CCPG1_uc002acx.3_Silent_p.T167T|CCPG1_uc002acv.2_Silent_p.T167T NM_001204450 NP_001191379 Q9ULG6 CCPG1_HUMAN Homo sapiens cell cycle progression 1 (CCPG1), transcript variant 3, mRNA. 167 Interaction with MCF2L and SRC (By similarity). cell cycle integral to membrane autonomic_ganglia(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|stomach(3) 30 all cancers(107;0.0354) GCTGATTACTGGTTTCATCAC 0.418000 35 20 0 0 0.00121646 0 0 TAT 6898 broad.mit.edu 37 16 71604251 71604251 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr16:71604251G>A uc002fap.2 - 8 1061 c.962C>T c.(961-963)aCc>aTc p.T321I NM_000353 NP_000344 P17735 ATTY_HUMAN Homo sapiens tyrosine aminotransferase (TAT), nuclear gene encoding mitochondrial protein, mRNA. 321 2-oxoglutarate metabolic process|L-phenylalanine catabolic process|glutamate metabolic process|tyrosine catabolic process cytosol 1-aminocyclopropane-1-carboxylate synthase activity|L-tyrosine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(3) 29 Ovarian(137;0.125) Kidney(780;0.0157) L-Glutamic Acid(DB00142)|L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Pyridoxal Phosphate(DB00114) CTGGACAATGGTACAGGGTCC 0.502000 21 38 0 0 0.00128727 0 0 OR5D18 219438 broad.mit.edu 37 11 55587893 55587893 + Missense_Mutation SNP C A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr11:55587893C>A uc010rin.2 + 0 788 c.788C>A c.(787-789)cCc>cAc p.P263H NM_001001952 NP_001001952 Q8NGL1 OR5DI_HUMAN Homo sapiens olfactory receptor, family 5, subfamily D, member 18 (OR5D18), mRNA. 263 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.P263P(1)|p.V262V(1) NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 all_epithelial(135;0.208) TACTGTGTGCCCAACTCCAAA 0.522000 54 19 1.78486e-19 5.22418e-19 0.000958276 1 0 MALL 7851 broad.mit.edu 37 2 110849340 110849340 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:110849340C>T uc002tfk.3 - 1 887 c.113G>A c.(112-114)gGg>gAg p.G38E MALL_uc010fju.3_Intron NM_005434 NP_005425 Q13021 MALL_HUMAN Homo sapiens mal, T-cell differentiation protein-like (MALL), mRNA. 38 MARVEL. cholesterol homeostasis Golgi membrane|clathrin-coated vesicle|integral to membrane|membrane raft|plasma membrane protein binding kidney(1)|large_intestine(3)|lung(1)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1) 9 Epithelial(1;0.0546)|STAD - Stomach adenocarcinoma(1;0.18) GACCAAGAACCCAAATATCTG 0.463000 67 17 0 0 0.000720815 0 0 OR10H5 284433 broad.mit.edu 37 19 15905071 15905071 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:15905071C>T uc010xos.2 + 0 213 c.213C>T c.(211-213)atC>atT p.I71I NM_001004466 NP_001004466 Q8NGA6 O10H5_HUMAN Homo sapiens olfactory receptor, family 10, subfamily H, member 5 (OR10H5), mRNA. 71 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(9)|ovary(1) 20 TCACCGAGATCCTCTACACCG 0.622000 24 19 0 0 0.000958276 0 0 CDK18 5129 broad.mit.edu 37 1 205492680 205492680 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:205492680G>A uc001hcr.3 + 2 462 c.200G>A c.(199-201)gGg>gAg p.G67E CDK18_uc009xbk.2_Non-coding_Transcript|CDK18_uc009xbl.2_Non-coding_Transcript|CDK18_uc010pri.2_Silent_p.R87R|CDK18_uc001hcp.3_Missense_Mutation_p.G67E|CDK18_uc001hcq.3_Missense_Mutation_p.G67E|CDK18_uc010prj.2_5'UTR|CDK18_uc001hcs.3_5'UTR|CDK18_uc009xbm.1_5'UTR NM_212503 NP_997668 Q07002 CDK18_HUMAN Homo sapiens cyclin-dependent kinase 18 (CDK18), transcript variant 1, mRNA. 65 ATP binding|cyclin-dependent protein kinase activity|protein binding|signal transducer activity breast(2)|endometrium(2)|large_intestine(2)|lung(10)|stomach(2)|urinary_tract(1) 19 ACAGACAGCGGGGAGGAGCCG 0.677000 4 5 0 0 0.00307968 0 0 KDM2B 84678 broad.mit.edu 37 12 121932437 121932437 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr12:121932437G>A uc001uat.3 - 11 1783 c.1679C>T c.(1678-1680)cCt>cTt p.P560L KDM2B_uc001uar.3_Missense_Mutation_p.P151L|KDM2B_uc001uas.3_Missense_Mutation_p.P529L|KDM2B_uc021rfd.1_Missense_Mutation_p.P529L|KDM2B_uc001uau.3_Missense_Mutation_p.P443L|KDM2B_uc021rfe.1_Missense_Mutation_p.P560L|KDM2B_uc001uav.4_Missense_Mutation_p.P470L NM_032590 NP_115979 Q8NHM5 KDM2B_HUMAN Homo sapiens lysine (K)-specific demethylase 2B (KDM2B), transcript variant 1, mRNA. 560 embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent nucleolus DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 19 GGCCAGACTAGGGTCATCATC 0.582000 OREG0022202 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 11 6 0 0 0.00307968 0 0 SPAM1 6677 broad.mit.edu 37 7 123594319 123594319 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr7:123594319C>T uc003vle.3 + 2 1134 c.695C>T c.(694-696)cCc>cTc p.P232L SPAM1_uc011koa.1_5'Flank|SPAM1_uc003vld.3_Missense_Mutation_p.P232L|SPAM1_uc022aks.1_Missense_Mutation_p.P232L|SPAM1_uc003vlf.4_Missense_Mutation_p.P232L|SPAM1_uc010lku.3_Missense_Mutation_p.P232L NM_003117 NP_003108 P38567 HYALP_HUMAN Homo sapiens sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding) (SPAM1), transcript variant 1, mRNA. 232 binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane anchored to membrane|plasma membrane hyalurononglucosaminidase activity p.P232P(2) breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 Hyaluronidase(DB00070) TATAAGAAACCCGGTTACAAT 0.368000 86 42 0 0 0.00170553 0 0 SPDYE3 441272 broad.mit.edu 37 7 99905580 99905580 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr7:99905580G>A uc022aij.1 + 0 256 c.72G>A c.(70-72)caG>caA p.Q24Q NM_001004351 NP_001004351 A6NKU9 SPDE3_HUMAN Homo sapiens speedy homolog E3 (Xenopus laevis) (SPDYE3), mRNA. 24 endometrium(10)|kidney(1)|lung(8)|urinary_tract(1) 20 ACCCCCTCCAGGAGGTGGTGG 0.582000 2 7 0 0 0.00307968 0 0 RND1 27289 broad.mit.edu 37 12 49258632 49258632 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr12:49258632C>T uc001rsn.3 - 1 245 c.142G>A c.(142-144)Gaa>Aaa p.E48K NM_014470 NP_055285 Q92730 RND1_HUMAN Homo sapiens Rho family GTPase 1 (RND1), mRNA. 48 actin filament organization|axon guidance|negative regulation of cell adhesion|neuron remodeling|small GTPase mediated signal transduction adherens junction|cytoskeleton|cytosol GTP binding|GTPase activity|receptor binding breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|ovary(2)|skin(1)|urinary_tract(1) 10 GTGTAATTTTCGAACACGGTG 0.517000 67 48 0 0 0.00361006 0 0 AHRR 57491 broad.mit.edu 37 5 434374 434374 + Missense_Mutation SNP A T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr5:434374A>T uc003jav.3 + 11 1628 c.1585A>T c.(1585-1587)Atg>Ttg p.M529L AHRR_uc003jaw.3_Missense_Mutation_p.M511L|AHRR_uc010isy.3_Missense_Mutation_p.M357L|AHRR_uc010isz.3_Missense_Mutation_p.M507L|AHRR_uc003jax.3_Missense_Mutation_p.M270L|AHRR_uc003jay.3_Missense_Mutation_p.M367L|AHRR_uc003jaz.3_Missense_Mutation_p.M128L NM_020731 NP_065782 A9YTQ3 AHRR_HUMAN Homo sapiens aryl-hydrocarbon receptor repressor (AHRR), transcript variant 1, mRNA. 511 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|signal transducer activity breast(2)|endometrium(4)|large_intestine(1)|lung(12)|prostate(1) 20 Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863) GGGCTATCCCATGGAGGACAT 0.617000 18 25 0 0 0.00395357 0 0 ST14 6768 broad.mit.edu 37 11 130066311 130066311 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr11:130066311C>T uc001qfw.3 + 9 1384 c.1191C>T c.(1189-1191)tgC>tgT p.C397C ST14_uc010sca.1_Silent_p.C207C NM_021978 NP_068813 Q9Y5Y6 ST14_HUMAN Homo sapiens suppression of tumorigenicity 14 (colon carcinoma) (ST14), mRNA. 397 CUB 2. proteolysis integral to plasma membrane serine-type endopeptidase activity central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|pancreas(2)|prostate(1)|skin(3) 32 all_hematologic(175;0.0429) Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228) Urokinase(DB00013) CGGGCACCTGCCCCAAGGACT 0.657000 3 6 0 0 0.00198382 0 0 STAB1 23166 broad.mit.edu 37 3 52538520 52538520 + Silent SNP C T T rs113269624 TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr3:52538520C>T uc003dej.3 + 10 1268 c.1194C>T c.(1192-1194)acC>acT p.T398T STAB1_uc003dei.1_Silent_p.T398T NM_015136 NP_055951 Q9NY15 STAB1_HUMAN Homo sapiens stabilin 1 (STAB1), mRNA. 398 FAS1 1. cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis integral to plasma membrane bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3) 76 BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482) GCCCTTTCACCGTGCTGGTGC 0.637000 4 27 0 0 0.00178596 0 0 SORBS1 10580 broad.mit.edu 37 10 97111052 97111052 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr10:97111052G>A uc001kkp.3 - 22 2341 c.2296C>T c.(2296-2298)Ccg>Tcg p.P766S SORBS1_uc001kkk.3_Missense_Mutation_p.P260S|SORBS1_uc001kkl.3_Missense_Mutation_p.P368S|SORBS1_uc001kkn.3_Missense_Mutation_p.P531S|SORBS1_uc001kkm.3_Missense_Mutation_p.P566S|SORBS1_uc001kko.3_Missense_Mutation_p.P788S|SORBS1_uc001kkq.3_Missense_Mutation_p.P617S|SORBS1_uc001kkr.3_Missense_Mutation_p.P472S|SORBS1_uc001kks.3_Intron|SORBS1_uc001kkt.3_Non-coding_Transcript|SORBS1_uc001kku.3_Missense_Mutation_p.P513S|SORBS1_uc001kkv.3_Intron|SORBS1_uc001kkw.3_Missense_Mutation_p.P720S|SORBS1_uc010qoe.2_Missense_Mutation_p.P481S|SORBS1_uc010qof.1_Missense_Mutation_p.P834S NM_001034954 NP_001030126 Q9BX66 SRBS1_HUMAN Homo sapiens sorbin and SH3 domain containing 1 (SORBS1), transcript variant 3, mRNA. 766 focal adhesion assembly|glucose transport|insulin receptor signaling pathway|muscle contraction|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|stress fiber assembly centrosome|cytosol|focal adhesion|membrane raft|nucleus|stress fiber|zonula adherens SH3/SH2 adaptor activity|actin binding|insulin receptor binding NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(19)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 42 Colorectal(252;0.0429) Epithelial(162;1.7e-06)|all cancers(201;6.52e-05) TGGTGCGTCGGAATGACGCCT 0.468000 7 43 0 0 0.00321405 0 0 GPR133 283383 broad.mit.edu 37 12 131487747 131487747 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr12:131487747G>A uc010tbm.2 + 10 1699 c.1140G>A c.(1138-1140)ctG>ctA p.L380L GPR133_uc001uit.4_Silent_p.L348L NM_198827 NP_942122 Q6QNK2 GP133_HUMAN Homo sapiens G protein-coupled receptor 133 (GPR133), mRNA. 348 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4) 67 all_neural(191;0.0982)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06) CCGTGGTACTGAGTCTCATCG 0.602000 117 52 0 0 0.00361006 0 0 ZNF304 57343 broad.mit.edu 37 19 57867617 57867617 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:57867617C>T uc010etw.3 + 3 909 c.521C>T c.(520-522)tCg>tTg p.S174L ZNF304_uc010ygw.2_Missense_Mutation_p.S127L|ZNF304_uc010etx.3_Missense_Mutation_p.S85L NM_020657 NP_065708 Q9HCX3 ZN304_HUMAN Homo sapiens zinc finger protein 304 (ZNF304), mRNA. 127 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1) 26 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265) AGAAGATTCTCGTTCAGTGCA 0.483000 57 13 0 0 0.00185496 0 0 TCTN2 79867 broad.mit.edu 37 12 124191312 124191312 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr12:124191312C>T uc001ufp.3 + 15 1937 c.1809C>T c.(1807-1809)acC>acT p.T603T TCTN2_uc009zya.3_Silent_p.T602T NM_024809 NP_079085 Q96GX1 TECT2_HUMAN Homo sapiens tectonic family member 2 (TCTN2), transcript variant 1, mRNA. 603 cilium assembly|smoothened signaling pathway integral to membrane breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 30 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000163)|Epithelial(86;0.000502)|all cancers(50;0.00451) GTGGGCTTACCTGTGAGCACA 0.502000 30 42 0 0 0.00285205 0 0 MTMR12 54545 broad.mit.edu 37 5 32242174 32242174 + Missense_Mutation SNP A G G TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr5:32242174A>G uc003jhq.3 - 11 1330 c.1160T>C c.(1159-1161)gTt>gCt p.V387A MTMR12_uc010iuk.3_Missense_Mutation_p.V387A|MTMR12_uc010iul.3_Missense_Mutation_p.V387A NM_001040446 NP_001035536 Q9C0I1 MTMRC_HUMAN Homo sapiens myotubularin related protein 12 (MTMR12), mRNA. 387 Myotubularin phosphatase. cytoplasm phosphatase activity breast(3)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 34 TAAAAGAAGAACATTCATGTT 0.328000 39 19 0 0 0.00229938 0 0 IRF8 3394 broad.mit.edu 37 16 85936699 85936699 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr16:85936699G>A uc002fjh.3 + 1 135 c.78G>A c.(76-78)ctG>ctA p.L26L IRF8_uc002fji.3_Silent_p.L26L NM_002163 NP_002154 Q02556 IRF8_HUMAN Homo sapiens interferon regulatory factor 8 (IRF8), mRNA. 26 interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway nucleus DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1) 24 Prostate(104;0.0771) ATCCAGGACTGATTTGGGAGA 0.483000 52 87 0 0 0.00361006 0 0 OR2A2 442361 broad.mit.edu 37 7 143806792 143806793 + Missense_Mutation DNP GG TT TT TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr7:143806792_143806793GG>TT uc011ktz.2 + 0 117_118 c.117_118GG>TT c.(115-120)ctgggg>ctTTgg p.G40W NM_001005480 NP_001005480 Q6IF42 OR2A2_HUMAN Homo sapiens olfactory receptor, family 2, subfamily A, member 2 (OR2A2), mRNA. 40 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.G40E(1) endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)|skin(4) 22 Melanoma(164;0.0783) TCACCCTGCTGGGGAATGGGGT 0.515000 163 9 0 0 6.4e-05 0 0 EHD1 10938 broad.mit.edu 37 11 64645688 64645688 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr11:64645688G>A uc010rnq.1 - 1 338 c.291C>T c.(289-291)ttC>ttT p.F97F EHD1_uc001obu.1_Silent_p.F83F|EHD1_uc001obv.1_Silent_p.F83F NM_006795 NP_006786 Q9H4M9 EHD1_HUMAN Homo sapiens EH-domain containing 1 (EHD1), mRNA. 83 blood coagulation|cholesterol homeostasis|endocytic recycling|intracellular protein transport|low-density lipoprotein particle clearance|positive regulation of cholesterol storage|protein homooligomerization early endosome membrane|lipid particle|plasma membrane|platelet dense tubular network membrane|recycling endosome membrane ATP binding|GTP binding|GTPase activity|calcium ion binding|protein binding breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1) 12 GCATCCCCGGGAAGTCCTGCT 0.657000 22 34 0 0 0.00375469 0 0 KLK6 5653 broad.mit.edu 37 19 51466678 51466678 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:51466678G>A uc002puh.3 - 2 417 c.352C>T c.(352-354)Ctg>Ttg p.L118L KLK6_uc010eoj.3_Intron|KLK6_uc002pui.3_Silent_p.L109L|KLK6_uc002puj.3_Silent_p.L2L|KLK6_uc010ycn.2_Silent_p.L2L|KLK6_uc002pul.3_Silent_p.L109L|KLK6_uc002pum.3_Silent_p.L2L NM_001012965 NP_001012983 Q92876 KLK6_HUMAN Homo sapiens kallikrein-related peptidase 6 (KLK6), transcript variant C, mRNA. 109 Peptidase S1. amyloid precursor protein metabolic process|central nervous system development|collagen catabolic process|hormone metabolic process|myelination|positive regulation of G-protein coupled receptor protein signaling pathway|protein autoprocessing|proteolysis|regulation of cell differentiation|tissue regeneration endoplasmic reticulum|extracellular region|microsome|mitochondrion|nucleolus protein binding|serine-type endopeptidase activity endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|skin(4) 13 all_neural(266;0.026) OV - Ovarian serous cystadenocarcinoma(262;0.00372)|GBM - Glioblastoma multiforme(134;0.00871) AGGCGCAACAGCATGATGTCC 0.597000 13 57 0 0 0.00361006 0 0 XIRP2 129446 broad.mit.edu 37 2 168107796 168107796 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:168107796G>A uc002udx.3 + 8 9983 c.9894G>A c.(9892-9894)aaG>aaA p.K3298K XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Silent_p.K3123K|XIRP2_uc010fpq.3_Silent_p.K3076K|XIRP2_uc010fpr.3_Intron NM_152381 NP_689594 A4UGR9 XIRP2_HUMAN Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA. 3123 actin cytoskeleton organization cell junction actin binding NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 TCATCCGCAAGGTTGCAGTGC 0.453000 77 51 0 0 0.00361006 0 0 DMWD 1762 broad.mit.edu 37 19 46289281 46289281 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:46289281G>A uc002pdj.1 - 2 1519 c.1473C>T c.(1471-1473)tcC>tcT p.S491S DMWD_uc021uwc.1_Missense_Mutation_p.P145L|DMWD_uc010eko.1_Silent_p.S176S NM_004943 NP_004934 Q09019 DMWD_HUMAN Homo sapiens dystrophia myotonica, WD repeat containing (DMWD), mRNA. 491 meiosis central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1) 16 Ovarian(192;0.0308)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.00604)|GBM - Glioblastoma multiforme(486;0.0807)|Epithelial(262;0.236) TGTTGGAGCGGGACAGCGAGC 0.746000 5 5 0 0 0.00116845 0 0 CABIN1 23523 broad.mit.edu 37 22 24573578 24573578 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr22:24573578C>T uc002zzi.1 + 35 6439 c.6312C>T c.(6310-6312)ccC>ccT p.P2104P CABIN1_uc021wnc.1_Silent_p.P2054P|CABIN1_uc002zzj.1_Silent_p.P2025P|CABIN1_uc002zzl.2_Silent_p.P2104P|CABIN1_uc010gul.1_Silent_p.P42P NM_012295 NP_036427 Q9Y6J0 CABIN_HUMAN Homo sapiens calcineurin binding protein 1 (CABIN1), transcript variant 2, mRNA. 2104 cell surface receptor linked signaling pathway|chromatin modification nucleus protein phosphatase inhibitor activity p.A2103A(1) breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 CCAAGGCCCCCAGCAGTGGGA 0.667000 32 43 0 0 0.00321405 0 0 DESI1 27351 broad.mit.edu 37 22 42003275 42003275 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr22:42003275G>A uc003bam.2 - 2 389 c.171C>T c.(169-171)agC>agT p.S57S DESI1_uc011apb.2_Intron NM_015704 NP_056519 Q6ICB0 PPDE2_HUMAN Homo sapiens PPPDE peptidase domain containing 2 (PPPDE2), mRNA. 57 PPPDE peptidase. CCGGGGGGCAGCTGGAGATAC 0.527000 22 32 0 0 0.00283554 0 0 TIMP4 7079 broad.mit.edu 37 3 12195893 12195894 + Missense_Mutation DNP CC GT GT TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr3:12195893_12195894CC>GT uc003bwo.3 - 3 921_922 c.410_411GG>AC c.(409-411)tgg>tAC p.W137Y SYN2_uc003bwl.1_Intron|SYN2_uc003bwm.3_Intron|SYN2_uc003bwn.3_Intron NM_003256 NP_003247 Q99727 TIMP4_HUMAN Homo sapiens TIMP metallopeptidase inhibitor 4 (TIMP4), mRNA. 137 NTR. metal ion binding|metalloendopeptidase inhibitor activity p.W137C(2) central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1) 11 ACAGGTCCTCCCAGGGCTCGAT 0.490000 259 59 0 0 6.4e-05 0 0 TCEAL2 140597 broad.mit.edu 37 X 101382330 101382330 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chrX:101382330G>A uc022car.1 + 0 528 c.528G>A c.(526-528)agG>agA p.R176R TCEAL2_uc004eip.3_Silent_p.R176R NM_080390 NP_525129 Q9H3H9 TCAL2_HUMAN Homo sapiens transcription elongation factor A (SII)-like 2 (TCEAL2), mRNA. 176 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1) 11 ACATGGCTAGGGTGGAGGATA 0.428000 7 59 0 0 0.00361006 0 0 LLGL2 3993 broad.mit.edu 37 17 73569259 73569259 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr17:73569259G>A uc002joh.3 + 19 2779 c.2625G>A c.(2623-2625)gtG>gtA p.V875V LLGL2_uc002joi.3_Silent_p.V875V|LLGL2_uc010dgg.2_Silent_p.V875V|LLGL2_uc002joj.3_Silent_p.V864V|LLGL2_uc010wsd.2_Silent_p.V502V NM_001031803 NP_001026973 Q6P1M3 L2GL2_HUMAN Homo sapiens lethal giant larvae homolog 2 (Drosophila) (LLGL2), transcript variant 3, mRNA. 875 cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity cytoplasm|intracellular membrane-bounded organelle PDZ domain binding NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246) all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112) ACATCCAGGTGGTCTCGCTGC 0.657000 6 54 0 0 0.00361006 0 0 TRIM29 23650 broad.mit.edu 37 11 119991312 119991312 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr11:119991312C>T uc001pwz.3 - 5 1621 c.1497G>A c.(1495-1497)caG>caA p.Q499Q TRIM29_uc001pwx.3_Non-coding_Transcript|TRIM29_uc010rzi.2_Silent_p.Q238Q|TRIM29_uc010rzj.2_Silent_p.Q232Q|TRIM29_uc001pxa.3_Non-coding_Transcript NM_012101 NP_036233 Q14134 TRI29_HUMAN Homo sapiens tripartite motif containing 29 (TRIM29), mRNA. 499 transcription from RNA polymerase II promoter cytoplasm protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.Q499K(1) breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1) 30 Breast(109;0.00117)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;5.37e-06) TGAAATTCTTCTGGGTGGTCT 0.552000 3 19 0 0 0.00121646 0 0 KEL 3792 broad.mit.edu 37 7 142640645 142640645 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr7:142640645G>A uc003wcb.3 - 14 1841 c.1631C>T c.(1630-1632)tCg>tTg p.S544L NM_000420 NP_000411 P23276 KELL_HUMAN Homo sapiens Kell blood group, metallo-endopeptidase (KEL), mRNA. 544 proteolysis|vasoconstriction integral to membrane|plasma membrane metal ion binding|metalloendopeptidase activity|protein binding central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1) 60 Melanoma(164;0.059) GTCAGATACCGAATAGTAAGC 0.557000 26 89 0 0 0.00361006 0 0 XIRP2 129446 broad.mit.edu 37 2 168102710 168102710 + Missense_Mutation SNP C T T rs74627077 TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:168102710C>T uc002udx.3 + 8 4897 c.4808C>T c.(4807-4809)gCt>gTt p.A1603V XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Missense_Mutation_p.A1428V|XIRP2_uc010fpq.3_Missense_Mutation_p.A1381V|XIRP2_uc010fpr.3_Intron NM_152381 NP_689594 A4UGR9 XIRP2_HUMAN Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA. 1428 actin cytoskeleton organization cell junction actin binding NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 ATTATCAGGGCTGATCTCAGA 0.363000 16 24 0 0 0.00395357 0 0 SCN5A 6331 broad.mit.edu 37 3 38620944 38620944 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr3:38620944C>T uc021wvo.1 - 16 3323 c.3271G>A c.(3271-3273)Gat>Aat p.D1091N SCN5A_uc021wvk.1_Missense_Mutation_p.D1090N|SCN5A_uc021wvl.1_Intron|SCN5A_uc021wvm.1_Missense_Mutation_p.D1091N|SCN5A_uc021wvn.1_Missense_Mutation_p.D1090N|SCN5A_uc021wvp.1_Missense_Mutation_p.D1091N|SCN5A_uc021wvq.1_Missense_Mutation_p.D1090N|SCN5A_uc021wvr.1_Missense_Mutation_p.D1091N|SCN5A_uc021wvs.1_Missense_Mutation_p.D1091N|SCN5A_uc021wvt.1_Missense_Mutation_p.D1090N|SCN5A_uc021wvu.1_Intron|SCN5A_uc021wvv.1_Missense_Mutation_p.D1091N|SCN5A_uc021wvj.1_Intron|SCN5A_uc021wvi.1_Missense_Mutation_p.D957N|SCN5A_uc021wvw.1_Missense_Mutation_p.D701N NM_198056 NP_932173 Q14524 SCN5A_HUMAN Homo sapiens sodium channel, voltage-gated, type V, alpha subunit (SCN5A), transcript variant 1, mRNA. 1091 blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction sarcolemma|voltage-gated sodium channel complex protein binding|voltage-gated sodium channel activity p.P1090P(1) NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4) 107 Medulloblastoma(35;0.163) KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1) Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661) GTCCTGGAATCCGGAGGGGCC 0.652000 13 23 0 0 0.00127121 0 0 BOD1L1 259282 broad.mit.edu 37 4 13616171 13616171 + Missense_Mutation SNP G A A rs142892563 TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr4:13616171G>A uc003gmz.1 - 3 940 c.823C>T c.(823-825)Cca>Tca p.P275S BOD1L1_uc010idr.1_5'UTR|BOD1L1_uc010ids.1_Non-coding_Transcript NM_148894 NP_683692 Q8NFC6 BOD1L_HUMAN Homo sapiens biorientation of chromosomes in cell division 1-like (BOD1L), mRNA. 275 DNA binding TCAGACTTTGGGGCTGTTTCC 0.393000 39 20 0 0 0.00395357 0 0 SLC4A9 83697 broad.mit.edu 37 5 139748220 139748220 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr5:139748220C>T uc003lfm.2 + 16 2510 c.2475C>T c.(2473-2475)tcC>tcT p.S825S SLC4A9_uc003lfj.2_Silent_p.S801S|SLC4A9_uc011czg.1_Silent_p.S738S|SLC4A9_uc003lfl.2_Silent_p.S801S|SLC4A9_uc003lfk.2_Silent_p.S787S NM_031467 NP_113655 Q96Q91 B3A4_HUMAN Homo sapiens solute carrier family 4, sodium bicarbonate cotransporter, member 9 (SLC4A9), mRNA. 825 Membrane (anion exchange). integral to membrane|plasma membrane inorganic anion exchanger activity|sodium:bicarbonate symporter activity endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|prostate(1) 14 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CAGGAGCCTCCATCTTCCTGG 0.527000 39 12 0 0 0.00244969 0 0 EFTUD2 9343 broad.mit.edu 37 17 42962668 42962668 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr17:42962668G>A uc002ihn.2 - 3 567 c.306C>T c.(304-306)ttC>ttT p.F102F EFTUD2_uc010wje.1_Silent_p.F67F|EFTUD2_uc010wjf.1_Silent_p.F102F NM_004247 NP_001136077 Q15029 U5S1_HUMAN Homo sapiens elongation factor Tu GTP binding domain containing 2 (EFTUD2), transcript variant 1, mRNA. 102 Cajal body|catalytic step 2 spliceosome|cytoplasm|nuclear speck GTP binding|GTPase activity|protein binding breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2) 32 Prostate(33;0.109) CCATCAGAGTGAATTTCTTGG 0.383000 140 63 0 0 0.00361006 0 0 TTI1 9675 broad.mit.edu 37 20 36624820 36624820 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr20:36624820G>A uc002xhl.3 - 7 3252 c.3043C>T c.(3043-3045)Ctc>Ttc p.L1015F TTI1_uc002xhm.3_Missense_Mutation_p.L1015F NM_014657 NP_055472 O43156 TTI1_HUMAN Homo sapiens TELO2 interacting protein 1 (TTI1), mRNA. 1015 binding p.L1015H(1) breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|pancreas(1)|prostate(3)|skin(3) 47 TTGACACTGAGGTAAATCAAG 0.453000 87 31 0 0 0.00170553 0 0 C2orf40 84417 broad.mit.edu 37 2 106690397 106690397 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:106690397C>T uc010fjf.3 + 2 291 c.183C>T c.(181-183)ttC>ttT p.F61F NM_032411 NP_115787 Q9H1Z8 AUGN_HUMAN Homo sapiens chromosome 2 open reading frame 40 (C2orf40), mRNA. 61 extracellular region|transport vesicle lung(7)|urinary_tract(1) 8 CCAAAGAATTCCTTGGCAGCC 0.517000 109 92 0 0 0.00361006 0 0 TDRD5 163589 broad.mit.edu 37 1 179632549 179632549 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:179632549G>A uc010pnp.2 + 15 3090 c.2572G>A c.(2572-2574)Gga>Aga p.G858R TDRD5_uc021pfm.1_Missense_Mutation_p.G804R|TDRD5_uc001gnf.2_Missense_Mutation_p.G804R|TDRD5_uc021pfn.1_Missense_Mutation_p.G858R|TDRD5_uc001gnh.2_Missense_Mutation_p.G359R NM_001199085 NP_001186014 Q8NAT2 TDRD5_HUMAN Homo sapiens tudor domain containing 5 (TDRD5), transcript variant 1, mRNA. 835 DNA methylation involved in gamete generation|P granule organization|spermatid development chromatoid body|pi-body nucleic acid binding NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2) 77 CCTTGTAAATGGAACGAAAGT 0.398000 29 30 0 0 0.0024448 0 0 OBSCN 84033 broad.mit.edu 37 1 228479646 228479646 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:228479646G>A uc009xez.1 + 38 10431 c.10387G>A c.(10387-10389)Gaa>Aaa p.E3463K OBSCN_uc001hsn.3_Missense_Mutation_p.E3463K|OBSCN_uc001hsq.1_Missense_Mutation_p.E719K NM_001098623 NP_001092093 Q5VST9 OBSCN_HUMAN Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA. 3463 Ig-like 35. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction M band|Z disc|cytosol ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|structural constituent of muscle|titin binding NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) AGAGGCCGTGGAAGGGGCCAC 0.582000 31 9 0 0 0.000442599 0 0 UNC119B 84747 broad.mit.edu 37 12 121151120 121151120 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr12:121151120C>T uc001tyz.3 + 1 735 c.288C>T c.(286-288)ttC>ttT p.F96F NM_001080533 NP_001074002 A6NIH7 U119B_HUMAN Homo sapiens unc-119 homolog B (C. elegans) (UNC119B), mRNA. 96 breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4) 9 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) GTATTGATTTCACCCGCTTCA 0.393000 288 146 0 0 0.00361006 0 0 SNCB 6620 broad.mit.edu 37 5 176053707 176053707 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr5:176053707G>A uc010jke.1 - 1 571 c.177C>T c.(175-177)gcC>gcT p.A59A SNCB_uc021yij.1_Intron|SNCB_uc003mep.3_Intron|SNCB_uc003meq.3_Intron|SNCB_uc021yig.1_Intron|SNCB_uc021yih.1_Intron|SNCB_uc021yii.1_Intron Q16143 SYUB_HUMAN Homo sapiens synuclein, beta (SNCB), transcript variant 1, mRNA. 0 4 X 11 AA tandem repeats of [EGS]-K-T-K- [EQ]-[GQ]-V-X(4). calcium ion binding|phospholipase inhibitor activity p.T59N(1) breast(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1) 10 all_cancers(89;0.00222)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142) Medulloblastoma(196;0.00498)|all_neural(177;0.0212) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) CTGGTGCCAGGGCTGGGCTAG 0.617000 23 37 0 0 0.00148497 0 0 OR7D2 162998 broad.mit.edu 37 19 9296615 9296615 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:9296615C>T uc002mkz.1 + 0 346 c.158C>T c.(157-159)tCc>tTc p.S53F NM_175883 NP_787079 Q96RA2 OR7D2_HUMAN Homo sapiens olfactory receptor, family 7, subfamily D, member 2 (OR7D2), mRNA. 53 regulation of transcription, DNA-dependent|sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(2) 20 AGCTCTGACTCCCACCTCCAC 0.537000 13 28 0 0 0.00106085 0 0 abParts 0 broad.mit.edu 37 14 106376339 106376339 + Splice_Site SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr14:106376339C>T uc021ser.1 - 3429 c.54036_splice c.e3429-1 KIAA0125_uc001ysq.3_Intron|KIAA0125_uc001ysr.3_Intron|KIAA0125_uc001yss.3_Intron Parts of antibodies, mostly variable regions. GGGACCTTCCCTTGCTGGGCT 0.582000 17 18 0 0 0.00152264 0 0 UGT2B10 7365 broad.mit.edu 37 4 69884051 69884051 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr4:69884051C>T uc011cao.1 - 3 767 c.641G>A c.(640-642)cGa>cAa p.R214Q UGT2B10_uc011can.1_Missense_Mutation_p.R130Q P36537 UDB10_HUMAN Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B10 (UGT2B10), transcript variant 1, mRNA. 258 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 CCAGGAGTTTCGCATAAGCCA 0.383000 51 29 0 0 0.00106085 0 0 SLITRK6 84189 broad.mit.edu 37 13 86369483 86369483 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr13:86369483G>A uc001vll.1 - 1 1620 c.1161C>T c.(1159-1161)ttC>ttT p.F387F SLITRK6_uc021rla.1_Silent_p.F387F NM_032229 NP_115605 Q9H5Y7 SLIK6_HUMAN Homo sapiens SLIT and NTRK-like family, member 6 (SLITRK6), mRNA. 387 integral to membrane breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_neural(89;0.117)|Medulloblastoma(90;0.163) GBM - Glioblastoma multiforme(99;0.0456) TTTCCAAAGTGAAATATTCCA 0.363000 18 38 0 0 0.000814825 0 0 CROCC 9696 broad.mit.edu 37 1 17265513 17265513 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:17265513C>T uc001azt.2 + 11 1553 c.1484C>T c.(1483-1485)cCa>cTa p.P495L CROCC_uc009voy.1_Missense_Mutation_p.P198L|CROCC_uc009voz.1_Missense_Mutation_p.P258L|CROCC_uc001azu.2_5'Flank NM_014675 NP_055490 Q5TZA2 CROCC_HUMAN Homo sapiens ciliary rootlet coiled-coil, rootletin (CROCC), mRNA. 495 cell cycle|cell projection organization|centrosome organization|protein localization actin cytoskeleton|centriole|ciliary rootlet|plasma membrane kinesin binding|structural molecule activity breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1) 62 Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181) ACCCCGTCCCCACCGCGGCGC 0.746000 1 17 0 0 0.000566183 0 0 PIK3CG 5294 broad.mit.edu 37 7 106508517 106508517 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr7:106508517G>A uc003vdv.4 + 1 596 c.511G>A c.(511-513)Gat>Aat p.D171N PIK3CG_uc003vdu.3_Missense_Mutation_p.D171N|PIK3CG_uc003vdw.3_Missense_Mutation_p.D171N NM_002649 NP_002640 P48736 PK3CG_HUMAN Homo sapiens phosphoinositide-3-kinase, catalytic, gamma polypeptide (PIK3CG), mRNA. 171 G-protein coupled receptor protein 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|protein binding breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 132 CGTGCACGACGATGAGCTGGA 0.677000 61 14 0 0 0.00185496 0 0 HIVEP1 3096 broad.mit.edu 37 6 12124382 12124382 + Nonsense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr6:12124382C>T uc003nac.3 + 3 4533 c.4354C>T c.(4354-4356)Caa>Taa p.Q1452* HIVEP1_uc011diq.2_Non-coding_Transcript NM_002114 NP_002105 P15822 ZEP1_HUMAN Homo sapiens human immunodeficiency virus type I enhancer binding protein 1 (HIVEP1), mRNA. 1452 transcription, DNA-dependent cytoplasm|nucleus DNA binding|protein binding|zinc ion binding NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 90 Breast(50;0.0639)|Ovarian(93;0.0816) all_hematologic(90;0.117) AACATCTTTCCAAAATACTGC 0.453000 110 18 0 0 0.00152264 0 0 LPO 4025 broad.mit.edu 37 17 56344862 56344862 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr17:56344862G>A uc002ivt.3 + 11 2162 c.1846G>A c.(1846-1848)Gag>Aag p.E616K LPO_uc010wns.2_Missense_Mutation_p.E557K|LPO_uc010dcp.3_Missense_Mutation_p.E533K|LPO_uc010dcq.3_Missense_Mutation_p.E287K|LPO_uc010dcr.3_Missense_Mutation_p.E179K NM_006151 NP_006142 P22079 PERL_HUMAN Homo sapiens lactoperoxidase (LPO), transcript variant 1, mRNA. 616 hydrogen peroxide catabolic process extracellular space heme binding|peroxidase activity breast(5)|cervix(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 30 GGCCATTGCTGAGCCGCTGGT 0.587000 23 35 0 0 0.00128727 0 0 ACY3 91703 broad.mit.edu 37 11 67410210 67410210 + Silent SNP C T T rs139551384 TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr11:67410210C>T uc001omq.3 - 7 1116 c.945G>A c.(943-945)ccG>ccA p.P315P NM_080658 NP_542389 Q96HD9 ACY3_HUMAN Homo sapiens aspartoacylase (aminocyclase) 3 (ACY3), mRNA. 315 interspecies interaction between organisms apical plasma membrane|cytoplasm hydrolase activity, acting on ester bonds|metal ion binding endometrium(1)|lung(5)|prostate(2) 8 L-Aspartic Acid(DB00128) AAGCTGGGCTCGGGGCAGGGG 0.582000 36 57 0 0 0.00361006 0 0 KCNN3 3782 broad.mit.edu 37 1 154705554 154705554 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:154705554G>A uc021pah.1 - 4 1874 c.1560C>T c.(1558-1560)ttC>ttT p.F520F KCNN3_uc001ffo.3_Silent_p.F200F|KCNN3_uc001ffp.3_Silent_p.F505F NM_001204087 NP_001191016 Q9UGI6 KCNN3_HUMAN Homo sapiens potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3 (KCNN3), transcript variant 3, mRNA. 510 integral to membrane calmodulin binding p.G520W(1) cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1) 28 all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245) BRCA - Breast invasive adenocarcinoma(34;0.00819) CAATGGAAAGGAATGTGATGG 0.522000 22 51 0 0 0.00361006 0 0 LRRC49 54839 broad.mit.edu 37 15 71256254 71256254 + Missense_Mutation SNP G C C TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr15:71256254G>C uc010ukf.2 + 8 1225 c.919G>C c.(919-921)Gat>Cat p.D307H LRRC49_uc002asu.3_Missense_Mutation_p.D292H|LRRC49_uc002asx.3_Missense_Mutation_p.D258H|LRRC49_uc002asw.3_Missense_Mutation_p.D302H|LRRC49_uc002asy.3_Missense_Mutation_p.D8H|LRRC49_uc002asz.3_Missense_Mutation_p.D274H NM_001199017 NP_001185946 Q8IUZ0 LRC49_HUMAN Homo sapiens leucine rich repeat containing 49 (LRRC49), transcript variant 1, mRNA. 302 LRRCT. cytoplasm|microtubule breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(3)|skin(3) 34 GCGCCAGCTAGATATGAAGAG 0.438000 48 27 0 0 0.00127121 0 0 TTI1 9675 broad.mit.edu 37 20 36641847 36641847 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr20:36641847G>A uc002xhl.3 - 2 581 c.372C>T c.(370-372)atC>atT p.I124I TTI1_uc002xhm.3_Silent_p.I124I NM_014657 NP_055472 O43156 TTI1_HUMAN Homo sapiens TELO2 interacting protein 1 (TTI1), mRNA. 124 binding breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|pancreas(1)|prostate(3)|skin(3) 47 TAAGTCCCTGGATCACAGCCA 0.463000 120 72 0 0 0.00361006 0 0 AGBL1 123624 broad.mit.edu 37 15 87217540 87217540 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr15:87217540G>A uc002blz.1 + 21 3036 c.2956G>A c.(2956-2958)Gga>Aga p.G986R NM_152336 NP_689549 Q96MI9 CBPC4_HUMAN Homo sapiens ATP/GTP binding protein-like 1 (AGBL1), mRNA. 986 C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis cytosol metallocarboxypeptidase activity|tubulin binding|zinc ion binding NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 62 GGAGGAGATGGGAGCCATGTT 0.517000 11 7 0 0 0.00307968 0 0 DNAAF1 123872 broad.mit.edu 37 16 84203607 84203607 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr16:84203607G>A uc002fhl.4 + 7 1354 c.1173G>A c.(1171-1173)ccG>ccA p.P391P DNAAF1_uc010vnw.2_Silent_p.P155P NM_178452 NP_848547 Q8NEP3 DAAF1_HUMAN Homo sapiens dynein, axonemal, assembly factor 1 (DNAAF1), mRNA. 391 Pro-rich. axonemal dynein complex assembly|cilium morphogenesis cilium axoneme|cytoplasm|spindle pole dynein binding NS(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(4)|urinary_tract(1) 41 AGCTCTGCCCGGAAAAGCCAA 0.582000 26 32 0 0 0.0024448 0 0 CYTIP 9595 broad.mit.edu 37 2 158283904 158283904 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:158283904G>A uc002tzj.1 - 5 577 c.505C>T c.(505-507)Ctg>Ttg p.L169L CYTIP_uc010zcl.1_Silent_p.L63L NM_004288 NP_004279 O60759 CYTIP_HUMAN Homo sapiens cytohesin 1 interacting protein (CYTIP), mRNA. 169 Interaction with CYTH1. regulation of cell adhesion cell cortex|early endosome protein binding breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2) 15 GTTCTTTTCAGAATCATTGTT 0.353000 22 20 0 0 0.00229938 0 0 RXFP3 51289 broad.mit.edu 37 5 33938078 33938078 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr5:33938078G>A uc003jic.2 + 0 1588 c.1233G>A c.(1231-1233)tcG>tcA p.S411S NM_016568 NP_057652 Q9NSD7 RL3R1_HUMAN Homo sapiens relaxin/insulin-like family peptide receptor 3 (RXFP3), mRNA. 411 integral to plasma membrane N-formyl peptide receptor activity endometrium(4)|large_intestine(9)|lung(24)|ovary(1)|skin(1)|upper_aerodigestive_tract(3) 42 CGTCTCCTTCGATCACCAGCA 0.706000 27 25 0 0 0.00106085 0 0 P2RX3 5024 broad.mit.edu 37 11 57137384 57137384 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr11:57137384G>A uc001nju.3 + 11 1292 c.1108G>A c.(1108-1110)Gct>Act p.A370T NM_002559 NP_002550 P56373 P2RX3_HUMAN Homo sapiens purinergic receptor P2X, ligand-gated ion channel, 3 (P2RX3), mRNA. 370 positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling integral to plasma membrane ATP binding|extracellular ATP-gated cation channel activity|purinergic nucleotide receptor activity endometrium(4)|kidney(2)|large_intestine(4)|lung(15)|prostate(1) 26 GAAAATCGCGGCTTTGACCAA 0.552000 27 4 0 0 0.00116845 0 0 TAB1 10454 broad.mit.edu 37 22 39771966 39771966 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr22:39771966C>T uc003axr.3 + 1 1807 c.25C>T c.(25-27)Cct>Tct p.P9S TAB1_uc003axo.4_Intron|TAB1_uc003axq.4_Intron|TAB1_uc003axs.4_Intron NM_006116 NP_006107 Q15750 TAB1_HUMAN Homo sapiens TGF-beta activated kinase 1/MAP3K7 binding protein 1 (TAB1), transcript variant alpha, mRNA. 0 I-kappaB kinase/NF-kappaB cascade|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|activation of MAPKKK activity|innate immune response|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|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|endosome membrane catalytic activity|protein binding breast(1)|endometrium(2)|large_intestine(2)|lung(8)|urinary_tract(1) 14 CTTGAATGTCCCTCTGTTCCT 0.617000 54 36 0 0 0.000953801 0 0 C3orf15 89876 broad.mit.edu 37 3 119434558 119434558 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr3:119434558C>T uc003ede.4 + 5 727 c.650C>T c.(649-651)cCt>cTt p.P217L C3orf15_uc003edc.2_Missense_Mutation_p.P217L|C3orf15_uc010hqy.2_Missense_Mutation_p.P217L|C3orf15_uc010hqz.3_Missense_Mutation_p.P155L|C3orf15_uc011bjd.2_Missense_Mutation_p.P91L|C3orf15_uc011bje.2_Missense_Mutation_p.P197L|C3orf15_uc010hra.2_5'UTR NM_033364 NP_203528 Q7Z4T9 AAT1_HUMAN Homo sapiens chromosome 3 open reading frame 15 (C3orf15), mRNA. 217 mitochondrion protein binding NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 GBM - Glioblastoma multiforme(114;0.186) GACTCAATCCCTGAGCTCTTG 0.473000 29 36 0 0 0.00111076 0 0 TESPA1 9840 broad.mit.edu 37 12 55356658 55356658 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr12:55356658C>T uc010spd.1 - 8 1157 c.1024G>A c.(1024-1026)Gaa>Aaa p.E342K TESPA1_uc001sgl.3_Missense_Mutation_p.E204K|TESPA1_uc001sgm.3_Missense_Mutation_p.E89K|TESPA1_uc010spb.1_Missense_Mutation_p.E89K|TESPA1_uc010spc.1_Missense_Mutation_p.E204K|TESPA1_uc001sgn.3_Missense_Mutation_p.E342K NM_001136030 NP_001092285 A2RU30 K0748_HUMAN Homo sapiens KIAA0748 (KIAA0748), mRNA. 342 ACAGGATCTTCCTGTGAGAAT 0.488000 14 19 0 0 0.000958276 0 0 SCAND3 114821 broad.mit.edu 37 6 28542428 28542428 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr6:28542428C>T uc003nlo.3 - 2 2672 c.2054G>A c.(2053-2055)gGa>gAa p.G685E NM_052923 NP_443155 Q6R2W3 SCND3_HUMAN Homo sapiens SCAN domain containing 3 (SCAND3), mRNA. 685 DNA integration|viral reproduction nucleus DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3) 71 TACCCAGTCTCCTACTTTGTC 0.398000 83 63 0 0 0.00361006 0 0 ALPK3 57538 broad.mit.edu 37 15 85411371 85411371 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr15:85411371C>T uc002ble.3 + 13 5575 c.5408C>T c.(5407-5409)cCt>cTt p.P1803L ALPK3_uc010upc.2_Missense_Mutation_p.P104L NM_020778 NP_065829 Q96L96 ALPK3_HUMAN Homo sapiens alpha-kinase 3 (ALPK3), mRNA. 1803 Alpha-type protein kinase. heart development nucleus ATP binding|protein serine/threonine kinase activity p.P1803L(3) NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 81 BRCA - Breast invasive adenocarcinoma(143;0.0587) AGCTGCTTCCCTGCCCTGCTG 0.647000 102 30 0 0 0.00375469 0 0 GABRG3 2567 broad.mit.edu 37 15 27572008 27572008 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr15:27572008G>A uc001zbg.2 + 3 577 c.323G>A c.(322-324)cGa>cAa p.R108Q GABRG3_uc001zbf.3_Missense_Mutation_p.R108Q NM_033223 NP_150092 Q99928 GBRG3_HUMAN Homo sapiens gamma-aminobutyric acid (GABA) A receptor, gamma 3 (GABRG3), mRNA. 108 gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(23)|skin(1)|upper_aerodigestive_tract(4) 42 all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235) all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261) AGTCGCCTTCGATTCAACAGC 0.418000 102 93 0 0 0.00361006 0 0 FREM2 341640 broad.mit.edu 37 13 39452383 39452383 + Silent SNP C A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr13:39452383C>A uc001uwv.3 + 21 9093 c.8784C>A c.(8782-8784)ccC>ccA p.P2928P NM_207361 NP_997244 Q5SZK8 FREM2_HUMAN Homo sapiens FRAS1 related extracellular matrix protein 2 (FREM2), mRNA. 2928 cell communication|homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2) 148 Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114) all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312) GCTATGTTCCCAAGTATAGTC 0.428000 59 6 0.00198382 0.00571265 0.00198382 1 0 CYP2C19 1557 broad.mit.edu 37 10 96612670 96612670 + Splice_Site SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr10:96612670G>A uc010qnz.2 + 9 1473 c.1473_splice c.e9+1 p.*491_splice CYP2C19_uc010qny.2_Splice_Site_p.*469_splice NM_000769 NP_000760 P33261 CP2CJ_HUMAN Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 19 (CYP2C19), mRNA. 0 exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome (S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 43 Colorectal(252;0.09) all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838) Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582) ATTCCTGTCTGAAGAAGCACA 0.493000 4 50 0 0 0.00361006 0 0 GPR114 221188 broad.mit.edu 37 16 57596024 57596024 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr16:57596024C>T uc002ely.3 + 1 542 c.19C>T c.(19-21)Ctt>Ttt p.L7F GPR114_uc002elx.4_Missense_Mutation_p.L7F|GPR114_uc010vhr.2_Missense_Mutation_p.L7F NM_153837 NP_722579 Q8IZF4 GP114_HUMAN Homo sapiens G protein-coupled receptor 114 (GPR114), mRNA. 7 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(5)|ovary(2)|stomach(1)|urinary_tract(1) 23 CTGTGGTGCCCTTTTCCTGTG 0.552000 55 21 0 0 0.00278032 0 0 LIMCH1 22998 broad.mit.edu 37 4 41648648 41648648 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr4:41648648G>A uc003gvz.4 + 16 2975 c.2558G>A c.(2557-2559)aGa>aAa p.R853K LIMCH1_uc003gwe.4_Missense_Mutation_p.R468K|LIMCH1_uc003gvu.4_Missense_Mutation_p.R468K|LIMCH1_uc003gvv.4_Missense_Mutation_p.R468K|LIMCH1_uc003gvw.4_Missense_Mutation_p.R468K|LIMCH1_uc003gvx.4_Missense_Mutation_p.R456K|LIMCH1_uc003gvy.4_Missense_Mutation_p.R297K|LIMCH1_uc003gwa.4_Missense_Mutation_p.R309K|LIMCH1_uc011byu.2_Missense_Mutation_p.R302K|LIMCH1_uc003gwc.4_Missense_Mutation_p.R314K|LIMCH1_uc003gwd.4_Missense_Mutation_p.R302K|LIMCH1_uc011byv.2_Missense_Mutation_p.R219K NM_014988 NP_055803 Q9UPQ0 LIMC1_HUMAN Homo sapiens LIM and calponin homology domains 1 (LIMCH1), transcript variant 1, mRNA. 468 actomyosin structure organization actin binding|zinc ion binding central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5) 41 ATTCTGGAAAGAAGCCATTCA 0.498000 81 69 0 0 0.00361006 0 0 DNAH11 8701 broad.mit.edu 37 7 21657337 21657337 + Missense_Mutation SNP A C C TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr7:21657337A>C uc003svc.3 + 22 4242 c.4211A>C c.(4210-4212)gAg>gCg p.E1404A NM_003777 NP_003768 Q96DT5 DYH11_HUMAN Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA. 1404 Stem (By similarity). microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 230 GCCATCACAGAGTTACAGAGC 0.517000 Kartagener syndrome 23 22 0 0 0.00278032 0 0 LRP1 4035 broad.mit.edu 37 12 57588878 57588878 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr12:57588878C>T uc001snd.3 + 50 8768 c.8302C>T c.(8302-8304)Cac>Tac p.H2768Y NM_002332 NP_002323 Q07954 LRP1_HUMAN Homo sapiens low density lipoprotein receptor-related protein 1 (LRP1), mRNA. 2768 LDL-receptor class A 16. aorta morphogenesis|apoptotic cell clearance|negative regulation of Wnt receptor signaling pathway|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity coated pit|integral to plasma membrane|nucleus apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 184 BRCA - Breast invasive adenocarcinoma(357;0.0103) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031) CGAGGCTGCTCACTGTGGTAA 0.632000 64 86 0 0 0.00361006 0 0 BAI3 577 broad.mit.edu 37 6 70071332 70071332 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr6:70071332C>T uc010kak.3 + 27 4443 c.4167C>T c.(4165-4167)gcC>gcT p.A1389A BAI3_uc003pev.4_Silent_p.A1389A|BAI3_uc011dxx.2_Silent_p.A595A NM_001704 NP_001695 O60242 BAI3_HUMAN Homo sapiens brain-specific angiogenesis inhibitor 3 (BAI3), mRNA. 1389 negative regulation of angiogenesis|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 210 all_lung(197;0.212) ATTTCATGGCCTCTGAGTTGG 0.418000 16 49 0 0 0.00361006 0 0 SLC25A36 55186 broad.mit.edu 37 3 140695236 140695236 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr3:140695236C>T uc003etr.2 + 6 1112 c.877C>T c.(877-879)Cca>Tca p.P293S SLC25A36_uc003ets.2_Missense_Mutation_p.P292S|SLC25A36_uc003etq.2_Missense_Mutation_p.P136S|SLC25A36_uc011bmz.1_Missense_Mutation_p.P267S NM_001104647 NP_001098117 Q96CQ1 S2536_HUMAN Homo sapiens solute carrier family 25, member 36 (SLC25A36), transcript variant 1, mRNA. 293 response to estradiol stimulus|transmembrane transport integral to membrane|mitochondrial inner membrane binding endometrium(2)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1) 6 GAGACAGATTCCAAACACAGC 0.398000 49 46 0 0 0.00361006 0 0 GANAB 23193 broad.mit.edu 37 11 62398174 62398174 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr11:62398174C>T uc001nua.3 - 11 1384 c.1351G>A c.(1351-1353)Gac>Aac p.D451N GANAB_uc001nub.3_Missense_Mutation_p.D429N|GANAB_uc001nuc.3_Missense_Mutation_p.D332N|GANAB_uc010rma.2_Missense_Mutation_p.D337N|GANAB_uc010rmb.2_Missense_Mutation_p.D315N NM_198335 NP_938149 Q14697 GANAB_HUMAN Homo sapiens glucosidase, alpha; neutral AB (GANAB), transcript variant 3, mRNA. 429 post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding Golgi apparatus|endoplasmic reticulum lumen|melanosome carbohydrate binding|glucan 1,3-alpha-glucosidase activity|protein binding central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|skin(2)|urinary_tract(3) 35 TGTTCAATGTCTAGCCAGATG 0.562000 38 17 0 0 0.000422831 0 0 CHRM3 1131 broad.mit.edu 37 1 240071798 240071798 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:240071798C>T uc021plc.1 + 0 1047 c.1047C>T c.(1045-1047)tcC>tcT p.S349S CHRM3_uc001hyp.3_Silent_p.S349S NM_000740 NP_000731 P20309 ACM3_HUMAN Homo sapiens cholinergic receptor, muscarinic 3 (CHRM3), mRNA. 349 cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1) 51 Ovarian(103;0.127) all_cancers(173;0.00567)|all_neural(198;0.203) OV - Ovarian serous cystadenocarcinoma(106;0.00989) Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505) TGGAGAACTCCGCCTCCTCCG 0.572000 6 9 0 0 0.000274275 0 0 FAM47B 170062 broad.mit.edu 37 X 34961628 34961628 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chrX:34961628C>T uc004ddi.2 + 0 716 c.680C>T c.(679-681)cCt>cTt p.P227L NM_152631 NP_689844 Q8NA70 FA47B_HUMAN Homo sapiens family with sequence similarity 47, member B (FAM47B), mRNA. 227 Pro-rich. p.P227T(1) breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3) 71 CGCCCAGAGCCTCCCAAGACT 0.647000 2 21 0 0 0.00188189 0 0 GRID2 2895 broad.mit.edu 37 4 93511296 93511296 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr4:93511296G>A uc011cdt.2 + 1 361 c.103G>A c.(103-105)Gaa>Aaa p.E35K GRID2_uc010ikx.3_Missense_Mutation_p.E35K|GRID2_uc011cdu.2_Missense_Mutation_p.E35K NM_001510 NP_001501 O43424 GRID2_HUMAN Homo sapiens glutamate receptor, ionotropic, delta 2 (GRID2), mRNA. 35 glutamate signaling pathway cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 Hepatocellular(203;0.114)|all_hematologic(202;0.177) OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191) L-Glutamic Acid(DB00142) AATTTTTGATGAATCTGCCAA 0.368000 21 20 0 0 0.00188189 0 0 CMYA5 202333 broad.mit.edu 37 5 79027814 79027814 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr5:79027814G>A uc003kgc.3 + 1 3298 c.3226G>A c.(3226-3228)Gaa>Aaa p.E1076K NM_153610 NP_705838 Q8N3K9 CMYA5_HUMAN Homo sapiens cardiomyopathy associated 5 (CMYA5), mRNA. 1076 perinuclear region of cytoplasm NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1) 128 Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262) OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35) GTCTCCGCTTGAAGACTTAAG 0.413000 36 32 0 0 0.00209593 0 0 GPR18 2841 broad.mit.edu 37 13 99907671 99907671 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr13:99907671C>T uc001voe.4 - 2 1115 c.456G>A c.(454-456)acG>acA p.T152T UBAC2_uc001voa.4_Intron|UBAC2_uc010tiu.2_Intron|UBAC2_uc001vob.4_Intron|UBAC2_uc010tiv.2_Intron|UBAC2_uc001vod.3_Intron|UBAC2_uc001voc.3_Intron|UBAC2_uc010tiw.2_Intron|MIR548AN_uc021rly.1_Intron|GPR18_uc010afv.3_Silent_p.T152T|GPR18_uc021rlz.1_Silent_p.T152T NM_005292 NP_005283 Q14330 GPR18_HUMAN Homo sapiens G protein-coupled receptor 18 (GPR18), transcript variant 1, mRNA. 152 integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled endometrium(2)|large_intestine(2)|lung(6) 10 all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) Glycine(DB00145) GAGGGGTGGTCGTGGTCAGGG 0.498000 62 28 0 0 0.00127121 0 0 WNK2 65268 broad.mit.edu 37 9 96055405 96055405 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr9:96055405G>A uc004ati.1 + 22 5769 c.5769G>A c.(5767-5769)tcG>tcA p.S1923S WNK2_uc011lud.1_Silent_p.S1886S|WNK2_uc004atj.3_Silent_p.S1886S|WNK2_uc004atk.3_Silent_p.S1523S|WNK2_uc004atl.1_Silent_p.S480S NM_006648 NP_006639 Q9Y3S1 WNK2_HUMAN Homo sapiens WNK lysine deficient protein kinase 2 (WNK2), mRNA. 1923 intracellular protein kinase cascade ATP binding|protein binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2) 54 ACAATGATTCGGAGCTCGAGG 0.617000 0 18 0 0 0.00152264 0 0 FBXO34 55030 broad.mit.edu 37 14 55819194 55819194 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr14:55819194C>T uc021rtk.1 + 0 2086 c.2086C>T c.(2086-2088)Cgg>Tgg p.R696W FBXO34_uc001xbv.3_Non-coding_Transcript|FBXO34_uc001xbu.3_Missense_Mutation_p.R696W|FBXO34_uc010aoo.3_Missense_Mutation_p.R696W NM_152231 NP_689417 Q9NWN3 FBX34_HUMAN Homo sapiens F-box protein 34 (FBXO34), transcript variant 2, mRNA. 696 p.R696W(2) breast(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(3) 22 CAGCTTTAATCGGGCAATCCA 0.488000 17 20 0 0 0.00121646 0 0 MAPKAPK3 7867 broad.mit.edu 37 3 50655029 50655029 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr3:50655029C>T uc003day.2 + 3 675 c.33C>T c.(31-33)ggC>ggT p.G11G MAPKAPK3_uc003daz.2_Silent_p.G11G|MAPKAPK3_uc003dba.2_Silent_p.G11G|MAPKAPK3_uc010hlr.2_Silent_p.G11G NM_001243926 NP_001230855 Q16644 MAPK3_HUMAN Homo sapiens mitogen-activated protein kinase-activated protein kinase 3 (MAPKAPK3), transcript variant 1, mRNA. 11 MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Ras protein signal transduction|Toll signaling pathway|activation of MAPK activity|innate immune response|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|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|MAP kinase kinase activity|protein serine/threonine kinase activity central_nervous_system(1)|ovary(1) 2 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.0188)|Kidney(197;0.0223) AGCAGGGGGGCCCTGTGCCCC 0.716000 8 25 0 0 0.00395357 0 0 CHRM5 1133 broad.mit.edu 37 15 34356068 34356068 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr15:34356068G>A uc001zhk.1 + 2 1820 c.1150G>A c.(1150-1152)Gtg>Atg p.V384M CHRM5_uc001zhl.1_Missense_Mutation_p.V384M|CHRM5_uc021sir.1_Missense_Mutation_p.V384M NM_012125 NP_036257 P08912 ACM5_HUMAN Homo sapiens cholinergic receptor, muscarinic 5 (CHRM5), mRNA. 384 cell proliferation|inhibition of adenylate cyclase activity by muscarinic acetylcholine receptor signaling pathway cell junction|integral to plasma membrane|postsynaptic membrane muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|skin(1) 20 all_lung(180;1.76e-08) all cancers(64;4.82e-17)|GBM - Glioblastoma multiforme(113;2.58e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0262) Atropine(DB00572)|Benzquinamide(DB00767)|Cryptenamine(DB00785)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Thiethylperazine(DB00372) GTTCCGATTGGTGGTAAAAGC 0.493000 49 46 0 0 0.00321405 0 0 ALPL 249 broad.mit.edu 37 1 21887229 21887229 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:21887229C>T uc001bet.3 + 2 429 c.172C>T c.(172-174)Ctg>Ttg p.L58L ALPL_uc010odo.2_Silent_p.L3L|ALPL_uc010odp.2_Silent_p.S19S|ALPL_uc010odn.2_Silent_p.S19S|ALPL_uc001beu.4_Silent_p.L58L NM_000478 NP_001120973 P05186 PPBT_HUMAN Homo sapiens alkaline phosphatase, liver/bone/kidney (ALPL), transcript variant 1, mRNA. 58 response to vitamin D|skeletal system development anchored to membrane|cytoplasm|integral to membrane|plasma membrane alkaline phosphatase activity|metal ion binding breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 26 all_lung(284;2.19e-05)|Lung NSC(340;2.22e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;8.7e-28)|COAD - Colon adenocarcinoma(152;1.57e-05)|GBM - Glioblastoma multiforme(114;2.66e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000177)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00856)|READ - Rectum adenocarcinoma(331;0.0623)|Lung(427;0.146) Amifostine(DB01143) CATCATGTTCCTGGGAGATGG 0.577000 21 8 0 0 0.00307968 0 0 HSPG2 3339 broad.mit.edu 37 1 22173922 22173922 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:22173922G>A uc009vqd.3 - 61 8132 c.8092C>T c.(8092-8094)Cgg>Tgg p.R2698W HSPG2_uc001bfj.3_Missense_Mutation_p.R2697W NM_005529 NP_005520 P98160 PGBM_HUMAN Homo sapiens heparan sulfate proteoglycan 2 (HSPG2), mRNA. 2697 Ig-like C2-type 12. angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process basement membrane|extracellular space|plasma membrane protein C-terminus binding p.R2697L(1)|p.A2698T(1) breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3) 127 Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223) Becaplermin(DB00102)|Palifermin(DB00039) TTGTTGGCCCGGCACACATAC 0.632000 95 31 0 0 0.0024448 0 0 HLA-DOA 3111 broad.mit.edu 37 6 32974859 32974859 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr6:32974859G>A uc003ocr.3 - 3 823 c.747C>T c.(745-747)ccC>ccT p.P249P HLA-DOA_uc010juj.3_Intron|HLA-DOA_uc010jui.3_3'UTR NM_002119 NP_002110 P06340 DOA_HUMAN Homo sapiens major histocompatibility complex, class II, DO alpha (HLA-DOA), mRNA. 249 T cell costimulation|T cell receptor signaling pathway|antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway MHC class II protein complex|endosome membrane|integral to membrane|lysosomal membrane MHC class II receptor activity NS(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(1) 9 CTCTGCACCTGGGGACACTGG 0.612000 61 62 0 0 0.00361006 0 0 WSCD2 9671 broad.mit.edu 37 12 108604066 108604066 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr12:108604066G>A uc001tms.3 + 3 1410 c.666G>A c.(664-666)caG>caA p.Q222Q WSCD2_uc001tmt.3_Silent_p.Q222Q NM_014653 NP_055468 Q2TBF2 WSCD2_HUMAN Homo sapiens WSC domain containing 2 (WSCD2), mRNA. 222 integral to membrane breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 57 AGCTGGCCCAGGAGTCGGCCC 0.672000 4 3 0 0 0.00024832 0 0 FGD2 221472 broad.mit.edu 37 6 36988344 36988344 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr6:36988344C>T uc010jwp.1 + 9 1321 c.1150C>T c.(1150-1152)Ccc>Tcc p.P384S FGD2_uc003ong.2_Missense_Mutation_p.P106S|FGD2_uc011dtv.1_Missense_Mutation_p.P12S|FGD2_uc003onj.1_5'Flank NM_173558 NP_775829 Q7Z6J4 FGD2_HUMAN Homo sapiens FYVE, RhoGEF and PH domain containing 2 (FGD2), mRNA. 384 PH 1. actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction Golgi apparatus|cytoskeleton|cytosol|early endosome membrane|lamellipodium|nucleus|ruffle membrane Rho guanyl-nucleotide exchange factor activity|metal ion binding|small GTPase binding central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1) 25 TGCTGAGTTTCCCCACTCCTT 0.647000 10 12 0 0 0.00136819 0 0 ZNF502 91392 broad.mit.edu 37 3 44763609 44763609 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr3:44763609C>T uc011baa.2 + 3 1555 c.1300C>T c.(1300-1302)Ccc>Tcc p.P434S ZNF502_uc003cns.3_Missense_Mutation_p.P434S|ZNF502_uc011bab.2_Missense_Mutation_p.P434S|ZNF502_uc003cnt.3_Missense_Mutation_p.P434S NM_001134440 NP_149987 Q8TBZ5 ZN502_HUMAN Homo sapiens zinc finger protein 502 (ZNF502), transcript variant 2, mRNA. 434 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|endometrium(4)|large_intestine(8)|lung(4)|prostate(1)|urinary_tract(1) 19 BRCA - Breast invasive adenocarcinoma(193;0.00855)|KIRC - Kidney renal clear cell carcinoma(197;0.0471)|Kidney(197;0.0589) TGGAGAAAAACCCTATAAATG 0.423000 30 12 0 0 0.000978159 0 0 TIAM1 7074 broad.mit.edu 37 21 32582379 32582379 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr21:32582379G>A uc002yow.1 - 11 2842 c.2370C>T c.(2368-2370)acC>acT p.T790T TIAM1_uc011adk.1_Silent_p.T790T|TIAM1_uc011adl.1_Silent_p.T765T NM_003253 NP_003244 Q13009 TIAM1_HUMAN Homo sapiens T-cell lymphoma invasion and metastasis 1 (TIAM1), mRNA. 790 RBD. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cell-cell junction|cytosol Rho guanyl-nucleotide exchange factor activity|receptor signaling protein activity autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2) 115 TCAGCTCCAGGGTGTCCCGTG 0.532000 24 28 0 0 0.001512 0 0 FAM47B 170062 broad.mit.edu 37 X 34961603 34961603 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chrX:34961603C>T uc004ddi.2 + 0 691 c.655C>T c.(655-657)Cgg>Tgg p.R219W NM_152631 NP_689844 Q8NA70 FA47B_HUMAN Homo sapiens family with sequence similarity 47, member B (FAM47B), mRNA. 219 Pro-rich. p.R219W(2) breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3) 71 TCCCAAGACTCGGGTGTCCAG 0.667000 2 21 0 0 0.00152264 0 0 NKX2-8 26257 broad.mit.edu 37 14 37051552 37051552 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr14:37051552G>A uc001wtx.3 - 0 235 c.43C>T c.(43-45)Cta>Tta p.L15L NM_014360 NP_055175 O15522 NKX28_HUMAN Homo sapiens NK2 homeobox 8 (NKX2-8), mRNA. 15 liver development|transcription from RNA polymerase II promoter nucleus double-stranded DNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity upper_aerodigestive_tract(1) 1 Breast(36;0.143)|Hepatocellular(127;0.158)|Esophageal squamous(585;0.164) Lung(8;1.12e-09)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.00357)|all cancers(34;0.0113)|LUSC - Lung squamous cell carcinoma(13;0.0189) GBM - Glioblastoma multiforme(112;0.0171) GGTAAATCTAGAAGGCTGCGC 0.726000 14 24 0 0 0.00395357 0 0 ABCB1 5243 broad.mit.edu 37 7 87175237 87175237 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr7:87175237C>T uc003uiz.2 - 15 2322 c.1829G>A c.(1828-1830)gGa>gAa p.G610E ABCB1_uc011khc.2_Missense_Mutation_p.G546E NM_000927 NP_000918 P08183 MDR1_HUMAN Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 1 (ABCB1), mRNA. 610 ABC transporter 1. G2/M transition of mitotic cell cycle|stem cell proliferation Golgi membrane|apical plasma membrane|cell surface|integral to membrane|intercellular canaliculus|membrane fraction ATP binding|protein binding|xenobiotic-transporting ATPase activity NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1) 111 Esophageal squamous(14;0.00164) Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570) ATCATGATTTCCTTTCTCCAC 0.398000 87 18 0 0 0.000566183 0 0 COL6A5 256076 broad.mit.edu 37 3 130159661 130159661 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr3:130159661C>T uc010htj.1 + 34 6973 c.6479C>T c.(6478-6480)tCg>tTg p.S2160L COL6A5_uc010hti.1_Non-coding_Transcript|COL6A5_uc021xdz.1_Missense_Mutation_p.S199L|COL6A5_uc010htk.1_Missense_Mutation_p.S199L NM_153264 NP_694996 A8TX70 CO6A5_HUMAN Homo sapiens collagen, type VI, alpha 5 (COL6A5), mRNA. 2160 Nonhelical region. axon guidance|cell adhesion collagen p.S2160L(2)|p.S199L(1) endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1) 44 TTTTTATACTCGGTCAGGCGT 0.323000 17 11 0 0 0.00136819 0 0 CAPN6 827 broad.mit.edu 37 X 110507123 110507123 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chrX:110507123C>T uc004epc.2 - 1 233 c.42G>A c.(40-42)caG>caA p.Q14Q CAPN6_uc011msu.2_5'UTR NM_014289 NP_055104 Q9Y6Q1 CAN6_HUMAN Homo sapiens calpain 6 (CAPN6), mRNA. 14 microtubule bundle formation|proteolysis|regulation of cytoskeleton organization perinuclear region of cytoplasm|spindle microtubule calcium-dependent cysteine-type endopeptidase activity|microtubule binding cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(25)|ovary(3)|skin(3)|upper_aerodigestive_tract(1) 47 GCTTCAGTTCCTGGTATTTCT 0.408000 6 35 0 0 0.000953801 0 0 DNAH5 1767 broad.mit.edu 37 5 13700980 13700980 + Splice_Site SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr5:13700980C>T uc003jfd.2 - 78 13534 c.13492_splice c.e78-1 p.E4498_splice DNAH5_uc003jfc.2_Splice_Site_p.E666_splice NM_001369 NP_001360 Q8TE73 DYH5_HUMAN Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA. 4498 microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity p.E4498K(1) 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) CGAGTTATTTCCTATTCAGGG 0.453000 Kartagener syndrome 10 71 0 0 0.00361006 0 0 RGPD4 285190 broad.mit.edu 37 2 108507182 108507182 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:108507182G>A uc010ywk.2 + 22 5354 c.5272G>A c.(5272-5274)Gaa>Aaa p.E1758K RGPD4_uc002tdu.3_Missense_Mutation_p.E945K|RGPD4_uc010ywl.2_Non-coding_Transcript NM_182588 NP_872394 Q7Z3J3 RGPD4_HUMAN Homo sapiens RANBP2-like and GRIP domain containing 4 (RGPD4), mRNA. 1758 intracellular transport binding breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3) 43 CAAAGGTGAGGAATAAAATGC 0.303000 26 21 0 0 0.00106085 0 0 ADH4 127 broad.mit.edu 37 4 100063877 100063877 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr4:100063877C>T uc003hun.3 - 1 149 c.73G>A c.(73-75)Gaa>Aaa p.E25K LOC100507053_uc003hum.2_Intron|ADH4_uc011ced.2_Missense_Mutation_p.E44K NM_000670 NP_000661 P08319 ADH4_HUMAN Homo sapiens alcohol dehydrogenase 4 (class II), pi polypeptide (ADH4), mRNA. 25 alcohol catabolic process|cellular aldehyde metabolic process|ethanol oxidation|quinone cofactor metabolic process|retinol metabolic process|xenobiotic metabolic process cytosol|microtubule cytoskeleton NAD binding|NADPH:quinone reductase activity|alcohol dehydrogenase activity, zinc-dependent|all-trans retinal binding|benzaldehyde dehydrogenase activity|retinol binding|retinol dehydrogenase activity|zinc ion binding NS(1)|cervix(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)|skin(2) 18 OV - Ovarian serous cystadenocarcinoma(123;4.48e-08) NADH(DB00157) TCAACCTCTTCAATGCAAAGG 0.493000 27 23 0 0 0.00106085 0 0 INTS12 57117 broad.mit.edu 37 4 106614568 106614568 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr4:106614568G>A uc003hxw.3 - 4 643 c.385C>T c.(385-387)Ccc>Tcc p.P129S INTS12_uc010ilr.3_Missense_Mutation_p.P129S NM_020395 NP_065128 Q96CB8 INT12_HUMAN Homo sapiens integrator complex subunit 12 (INTS12), transcript variant 1, mRNA. 129 snRNA processing integrator complex protein binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|urinary_tract(1) 14 OV - Ovarian serous cystadenocarcinoma(123;5.12e-07) ACAGTAATGGGAGATGACTGT 0.418000 99 73 0 0 0.00361006 0 0 TMEM199 147007 broad.mit.edu 37 17 26687798 26687798 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr17:26687798C>T uc010wah.1 + 4 466 c.459C>T c.(457-459)ttC>ttT p.F153F TMEM199_uc002hba.3_Silent_p.F153F NM_152464 NP_689677 Q8N511 TM199_HUMAN Homo sapiens transmembrane protein 199 (TMEM199), mRNA. 153 integral to membrane endometrium(1)|kidney(2)|large_intestine(1)|lung(2) 6 all_lung(13;0.000354)|Lung NSC(42;0.00115) UCEC - Uterine corpus endometrioid carcinoma (53;0.153) TCTTCAATTTCATTGTCACGG 0.502000 7 62 0 0 0.00361006 0 0 ARHGAP26 23092 broad.mit.edu 37 5 142264942 142264942 + Missense_Mutation SNP A T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr5:142264942A>T uc011dbj.2 + 4 499 c.464A>T c.(463-465)aAg>aTg p.K155M ARHGAP26_uc003lmt.3_Missense_Mutation_p.K155M|ARHGAP26_uc003lmw.3_Missense_Mutation_p.K155M NM_015071 NP_055886 Q9UNA1 RHG26_HUMAN Homo sapiens Rho GTPase activating protein 26 (ARHGAP26), transcript variant 1, mRNA. 155 actin cytoskeleton organization|filopodium assembly|nervous system development|small GTPase mediated signal transduction cytoskeleton|cytosol|focal adhesion Rho GTPase activator activity|SH3 domain binding|cytoskeletal adaptor activity autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(7)|ovary(1) 25 all_hematologic(541;0.0416) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) TCTTCCAAAAAGAAAGAATCT 0.358000 42 18 0 0 0.00121646 0 0 FAM83B 222584 broad.mit.edu 37 6 54806494 54806494 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr6:54806494G>A uc003pck.3 + 4 2841 c.2725G>A c.(2725-2727)Gaa>Aaa p.E909K NM_001010872 NP_001010872 Q5T0W9 FA83B_HUMAN Homo sapiens family with sequence similarity 83, member B (FAM83B), mRNA. 909 autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1) 71 Lung NSC(77;0.0178)|Renal(3;0.122) TGTTACCCCTGAAAGAAGACC 0.458000 44 41 0 0 0.0025221 0 0 CNBD1 168975 broad.mit.edu 37 8 87917317 87917317 + Missense_Mutation SNP T A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr8:87917317T>A uc003ydy.2 + 2 215 c.167T>A c.(166-168)aTg>aAg p.M56K NM_173538 NP_775809 Q8NA66 CNBD1_HUMAN Homo sapiens cyclic nucleotide binding domain containing 1 (CNBD1), mRNA. 56 breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(4)|urinary_tract(1) 32 AGCCGGAGTATGAGCAATATC 0.333000 22 8 0 0 0.00307968 0 0 ASXL3 80816 broad.mit.edu 37 18 31311980 31311980 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr18:31311980G>A uc010dmg.1 + 8 983 c.928G>A c.(928-930)Gaa>Aaa p.E310K ASXL3_uc002kxq.2_Missense_Mutation_p.E17K NM_030632 NP_085135 Q9C0F0 ASXL3_HUMAN Homo sapiens additional sex combs like 3 (Drosophila) (ASXL3), mRNA. 310 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1) 43 TCTAAATAATGAATTCTTTGC 0.378000 43 54 0 0 0.00361006 0 0 MXRA5 25878 broad.mit.edu 37 X 3241568 3241569 + Nonsense_Mutation DNP GG AA AA TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chrX:3241568_3241569GG>AA uc004crg.4 - 4 2314_2315 c.2157_2158CC>TT c.(2155-2160)gaccaa>gaTTaa p.Q720* NM_015419 NP_056234 Q9NR99 MXRA5_HUMAN Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA. 720 extracellular region NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2) 157 all_lung(23;0.00031)|Lung NSC(23;0.000946) AACACCTCTTGGTCCTTTGGAT 0.475000 1 36 0 0 6.4e-05 0 0 MCHR2 84539 broad.mit.edu 37 6 100395740 100395740 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr6:100395740C>T uc003pqh.1 - 2 605 c.290G>A c.(289-291)gGa>gAa p.G97E MCHR2_uc003pqi.1_Missense_Mutation_p.G97E NM_001040179 NP_115892 Q969V1 MCHR2_HUMAN Homo sapiens melanin-concentrating hormone receptor 2 (MCHR2), transcript variant 1, mRNA. 97 integral to membrane|plasma membrane G-protein coupled receptor activity p.G96E(1) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 39 all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069) BRCA - Breast invasive adenocarcinoma(108;0.0429) CACCCACTCTCCCCCTCGGGC 0.488000 9 69 0 0 0.00361006 0 0 SNRNP48 154007 broad.mit.edu 37 6 7595265 7595265 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr6:7595265G>A uc003mxr.3 + 3 396 c.337G>A c.(337-339)Gac>Aac p.D113N SNRNP48_uc003mxs.3_Non-coding_Transcript NM_152551 NP_689764 Q6IEG0 SNR48_HUMAN Homo sapiens small nuclear ribonucleoprotein 48kDa (U11/U12) (SNRNP48), mRNA. 113 mRNA processing U12-type spliceosomal complex|cytoplasm metal ion binding kidney(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 10 GACAGATAAGGACTCACAATT 0.323000 58 9 0 0 0.000673444 0 0 OR52N1 79473 broad.mit.edu 37 11 5809841 5809841 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr11:5809841G>A uc010qzo.2 - 0 206 c.206C>T c.(205-207)tCc>tTc p.S69F TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.2_Intron NM_001001913 NP_001001913 Q8NH53 O52N1_HUMAN Homo sapiens olfactory receptor, family 52, subfamily N, member 1 (OR52N1), mRNA. 69 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(15)|prostate(2)|skin(3) 31 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195) ATCTGTGAAGGAAAGAAGGGC 0.458000 38 29 0 0 0.000878237 0 0 ZBTB46 140685 broad.mit.edu 37 20 62407158 62407158 + Silent SNP G C C TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr20:62407158G>C uc002ygv.2 - 2 1296 c.1095C>G c.(1093-1095)acC>acG p.T365T ZBTB46_uc002ygu.3_Non-coding_Transcript NM_025224 NP_079500 Q86UZ6 ZBT46_HUMAN Homo sapiens zinc finger and BTB domain containing 46 (ZBTB46), mRNA. 365 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding endometrium(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 24 all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09) TGGCCACCGCGGTGGCCTGAT 0.652000 86 45 0 0 0.00361006 0 0 HOXB8 3218 broad.mit.edu 37 17 46690746 46690746 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr17:46690746C>T uc002inw.3 - 1 785 c.550G>A c.(550-552)Gga>Aga p.G184R HOXB7_uc002inv.3_5'Flank NM_024016 NP_076921 P17481 HXB8_HUMAN Homo sapiens homeobox B8 (HOXB8), mRNA. 184 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity large_intestine(1)|lung(8)|urinary_tract(2) 11 TCTGTCAGTCCCAGGGCGTGC 0.512000 62 28 0 0 0.0024448 0 0 LAMA1 284217 broad.mit.edu 37 18 6956713 6956713 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr18:6956713G>A uc002knm.3 - 55 8110 c.8016C>T c.(8014-8016)acC>acT p.T2672T LAMA1_uc002knk.3_5'Flank|LAMA1_uc002knl.3_Silent_p.T125T|LAMA1_uc010wzj.2_Silent_p.T2148T NM_005559 NP_005550 P25391 LAMA1_HUMAN Homo sapiens laminin, alpha 1 (LAMA1), mRNA. 2672 Laminin G-like 3. axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development extracellular space|laminin-1 complex|laminin-3 complex extracellular matrix structural constituent|receptor binding NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3) 205 Colorectal(10;0.172) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) ACAGCCAGCAGGTGTCCAGGT 0.502000 9 52 0 0 0.00361006 0 0 OPHN1 4983 broad.mit.edu 37 X 67333082 67333082 + Splice_Site SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chrX:67333082C>T uc004dww.4 - 17 1656 c.1362_splice c.e17-1 p.R454_splice OPHN1_uc011mpg.2_Splice_Site_p.R454_splice NM_002547 NP_002538 O60890 OPHN1_HUMAN Homo sapiens oligophrenin 1 (OPHN1), mRNA. 454 Rho-GAP. axon guidance|endocytosis|filopodium assembly|small GTPase mediated signal transduction|substrate-dependent cell migration, cell extension axon|cell junction|cytosol|dendritic spine|synapse Rho GTPase activator activity|SH3 domain binding|cytoskeletal adaptor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|skin(2) 31 AGAAAGATTCCTGAAATGAAT 0.418000 1 8 0 0 0.000274275 0 0 DGKG 1608 broad.mit.edu 37 3 186024722 186024722 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr3:186024722C>T uc003fqa.3 - 2 649 c.112G>A c.(112-114)Ggt>Agt p.G38S DGKG_uc003fqb.3_Missense_Mutation_p.G38S|DGKG_uc003fqc.3_Missense_Mutation_p.G38S|DGKG_uc011brx.2_Missense_Mutation_p.G38S NM_001346 NP_001337 P49619 DGKG_HUMAN Homo sapiens diacylglycerol kinase, gamma 90kDa (DGKG), transcript variant 1, mRNA. 38 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation cytoplasm|plasma membrane ATP binding|calcium ion binding|diacylglycerol kinase activity p.G38S(2) breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2) 42 all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247) OV - Ovarian serous cystadenocarcinoma(80;1.93e-20) GBM - Glioblastoma multiforme(93;0.0657) Phosphatidylserine(DB00144) AGGCTCCCACCCTCATTAAAT 0.393000 52 42 0 0 0.00361006 0 0 NMUR1 10316 broad.mit.edu 37 2 232389986 232389986 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:232389986G>A uc002vry.4 - 2 1159 c.1049C>T c.(1048-1050)gCg>gTg p.A350V NM_006056 NP_006047 Q9HB89 NMUR1_HUMAN Homo sapiens neuromedin U receptor 1 (NMUR1), mRNA. 350 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|calcium ion transport|calcium-mediated signaling|chloride transport|smooth muscle contraction integral to plasma membrane|membrane fraction neuromedin U receptor activity breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(12)|pancreas(1)|skin(1) 24 Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164) Epithelial(121;8.37e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142) GGGGTTGGCCGCCGAGCCCAG 0.652000 53 46 0 0 0.00361006 0 0 FSD2 123722 broad.mit.edu 37 15 83434727 83434727 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr15:83434727C>T uc002bjd.2 - 9 1777 c.1610G>A c.(1609-1611)aGc>aAc p.S537N FSD2_uc010uol.1_Missense_Mutation_p.S492N|FSD2_uc010uom.1_Missense_Mutation_p.S492N NM_001007122 NP_001007123 A1L4K1 FSD2_HUMAN Homo sapiens fibronectin type III and SPRY domain containing 2 (FSD2), mRNA. 537 Fibronectin type-III 2. breast(2)|central_nervous_system(1)|large_intestine(5)|lung(10) 18 GATAATGTAGCTCCGCCCCGG 0.607000 8 15 0 0 0.000422831 0 0 NLRP14 338323 broad.mit.edu 37 11 7063772 7063772 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr11:7063772C>T uc001mfb.1 + 3 838 c.515C>T c.(514-516)aCc>aTc p.T172I NM_176822 NP_789792 Q86W24 NAL14_HUMAN Homo sapiens NLR family, pyrin domain containing 14 (NLRP14), mRNA. 172 cell differentiation|multicellular organismal development|spermatogenesis ATP binding p.T172T(1) breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 21 Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871) GATGTCAAAACCGGTGCACAG 0.478000 24 23 0 0 0.00278032 0 0 NCKAP5L 57701 broad.mit.edu 37 12 50188918 50188919 + Missense_Mutation DNP CC TT TT TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr12:50188918_50188919CC>TT uc009zlk.2 - 7 2926_2927 c.2724_2725GG>AA c.(2722-2727)gaggtc>gaAAtc p.V909I NCKAP5L_uc001rvc.3_Missense_Mutation_p.V113I|NCKAP5L_uc001rvb.2_Missense_Mutation_p.V502I NM_001037806 NP_001032895 Q9HCH0 NCK5L_HUMAN Homo sapiens NCK-associated protein 5-like (NCKAP5L), mRNA. 905 central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(8)|prostate(2) 18 CGGTGCTTGACCTCGGCGCCAG 0.639000 25 15 0 0 6.4e-05 0 0 MGAM 8972 broad.mit.edu 37 7 141747669 141747669 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr7:141747669G>A uc003vwy.3 + 21 2637 c.2583G>A c.(2581-2583)acG>acA p.T861T NM_004668 NP_004659 O43451 MGA_HUMAN Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA. 861 Maltase. polysaccharide digestion|starch catabolic process apical plasma membrane|integral to membrane carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2) 13 Melanoma(164;0.0272) Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878) ATGGGGAAACGAAGGGTGAGC 0.458000 14 9 0 0 0.000274275 0 0 CACNA1H 8912 broad.mit.edu 37 16 1262084 1262084 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr16:1262084G>A uc002cks.3 + 24 4953 c.4705G>A c.(4705-4707)Gag>Aag p.E1569K CACNA1H_uc002ckt.3_Missense_Mutation_p.E1569K|CACNA1H_uc002cku.3_Missense_Mutation_p.E275K|CACNA1H_uc010brj.3_Missense_Mutation_p.E275K|CACNA1H_uc002ckv.3_Missense_Mutation_p.E275K NM_021098 NP_066921 O95180 CAC1H_HUMAN Homo sapiens calcium channel, voltage-dependent, T type, alpha 1H subunit (CACNA1H), transcript variant 1, mRNA. 1569 aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction voltage-gated calcium channel complex low voltage-gated calcium channel activity breast(4)|endometrium(5)|kidney(2)|lung(23) 34 Hepatocellular(780;0.00369) Flunarizine(DB04841)|Mibefradil(DB01388) GGAGGCGGAGGAGGCGCGGCG 0.667000 52 27 0 0 0.00395357 0 0 C11orf85 283129 broad.mit.edu 37 11 64722257 64722257 + Missense_Mutation SNP T G G TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr11:64722257T>G uc001ocb.1 - 2 183 c.119A>C c.(118-120)aAt>aCt p.N40T C11orf85_uc001occ.1_Non-coding_Transcript|C11orf85_uc001ocd.1_Missense_Mutation_p.N40T NM_001037225 NP_001032302 Q3KP22 CK085_HUMAN Homo sapiens chromosome 11 open reading frame 85 (C11orf85), mRNA. 40 breast(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(2) 7 GACTTCCTTATTTTCTATCTC 0.403000 35 16 0 0 0.00074312 0 0 XRN2 22803 broad.mit.edu 37 20 21311265 21311265 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr20:21311265C>T uc002wsf.1 + 5 593 c.498C>T c.(496-498)ttC>ttT p.F166F XRN2_uc002wsg.1_Silent_p.F90F|XRN2_uc010zsk.1_Silent_p.F112F NM_012255 NP_036387 Q9H0D6 XRN2_HUMAN Homo sapiens 5'-3' exoribonuclease 2 (XRN2), mRNA. 166 DNA catabolic process, exonucleolytic|RNA catabolic process|cell growth|mRNA processing|regulation of transcription, DNA-dependent|spermatogenesis|transcription termination, DNA-dependent nucleolus 5'-3' exoribonuclease activity|nucleic acid binding|protein binding|zinc ion binding endometrium(5)|kidney(6)|large_intestine(10)|lung(12)|ovary(1)|skin(5) 39 GAACTGAATTCATGGACAATC 0.328000 48 11 0 0 0.000673444 0 0 MAN2C1 4123 broad.mit.edu 37 15 75648741 75648741 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr15:75648741G>A uc002bah.3 - 23 2855 c.2838C>T c.(2836-2838)ttC>ttT p.F946F MIR631_uc021sqo.1_5'Flank|MAN2C1_uc010bkk.3_Silent_p.F830F|MAN2C1_uc002baf.3_Silent_p.F929F|MAN2C1_uc002bag.3_Intron Q9NTJ4 MA2C1_HUMAN Homo sapiens mannosidase, alpha, class 2C, member 1 (MAN2C1), mRNA. 929 mannose metabolic process alpha-mannosidase activity|carbohydrate binding|protein binding|zinc ion binding central_nervous_system(4)|endometrium(4)|kidney(6)|large_intestine(6)|lung(20)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2) 44 CCAACAGGGGGAAGTTTAGGC 0.617000 23 10 0 0 0.000978159 0 0 PCDH15 65217 broad.mit.edu 37 10 55591294 55591294 + Splice_Site SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr10:55591294C>T uc010qhy.1 - 31 4394 c.3999_splice c.e31-1 p.K1333_splice PCDH15_uc010qhq.2_Splice_Site_p.K1333_splice|PCDH15_uc010qhr.2_Splice_Site_p.K1328_splice|PCDH15_uc021pqv.1_Splice_Site_p.K1328_splice|PCDH15_uc021pqw.1_Splice_Site_p.K1340_splice|PCDH15_uc010qht.2_Splice_Site_p.K1335_splice|PCDH15_uc021pqx.1_Splice_Site_p.K1328_splice|PCDH15_uc001jjv.1_Intron|PCDH15_uc021pqy.1_Splice_Site_p.K1328_splice|PCDH15_uc021pqz.1_Splice_Site_p.K1306_splice|PCDH15_uc010qhv.1_Splice_Site_p.K1328_splice|PCDH15_uc010qhw.1_Splice_Site_p.K1291_splice|PCDH15_uc010qhx.1_Splice_Site_p.K1257_splice|PCDH15_uc010qhz.1_Splice_Site_p.K1328_splice|PCDH15_uc010qia.1_Splice_Site_p.K1306_splice|PCDH15_uc001jju.1_Splice_Site_p.K1328_splice|PCDH15_uc010qib.1_Splice_Site_p.K1306_splice NM_001142763 NP_001136235 Q96QU1 PCD15_HUMAN Homo sapiens protocadherin-related 15 (PCDH15), transcript variant A, mRNA. 1328 equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1) 237 Melanoma(3;0.117)|Lung SC(717;0.238) ATCCAAAAATCTTTATTGTTA 0.338000 HNSCC(58;0.16) 10 20 0 0 0.00188189 0 0 CDH20 28316 broad.mit.edu 37 18 59206374 59206374 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr18:59206374G>A uc010dps.1 + 7 1678 c.1526G>A c.(1525-1527)gGa>gAa p.G509E CDH20_uc002lif.2_Missense_Mutation_p.G503E NM_031891 NP_114097 Q9HBT6 CAD20_HUMAN Homo sapiens cadherin 20, type 2 (CDH20), mRNA. 509 Cadherin 5. 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) GCCAAGGCAGGACAGGTAAGG 0.453000 79 90 0 0 0.00361006 0 0 NCR1 9437 broad.mit.edu 37 19 55417934 55417934 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:55417934G>A uc002qib.2 + 2 162 c.124G>A c.(124-126)Gaa>Aaa p.E42K NCR1_uc002qic.2_Missense_Mutation_p.E42K|NCR1_uc002qie.2_Missense_Mutation_p.E42K|NCR1_uc002qid.2_Intron|NCR1_uc002qif.2_Intron|NCR1_uc010esj.2_Intron NM_004829 NP_004820 O76036 NCTR1_HUMAN Homo sapiens natural cytotoxicity triggering receptor 1 (NCR1), transcript variant 1, mRNA. 42 Ig-like 1. cellular defense response|natural killer cell activation|regulation of natural killer cell mediated cytotoxicity SWI/SNF complex|integral to plasma membrane receptor activity|receptor signaling protein activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1) 18 GBM - Glioblastoma multiforme(193;0.0449) GGTTCCAAAGGAAAAGCAAGT 0.547000 57 73 0 0 0.00361006 0 0 WNT3 7473 broad.mit.edu 37 17 44845943 44845944 + Missense_Mutation DNP CC TT TT TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr17:44845943_44845944CC>TT uc002ikv.2 - 3 929_930 c.810_811GG>AA c.(808-813)acggag>acAAag p.E271K NM_030753 NP_110380 P56703 WNT3_HUMAN Homo sapiens wingless-type MMTV integration site family, member 3 (WNT3), mRNA. 271 Spemann organizer formation at the anterior end of the primitive streak|Wnt receptor signaling pathway, calcium modulating pathway|canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|cellular response to retinoic acid|dorsal/ventral axis specification|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic pattern specification|head morphogenesis|hemopoietic stem cell proliferation|inner ear morphogenesis|limb bud formation|mammary gland epithelium development|mesoderm formation|midbrain-hindbrain boundary development|negative regulation of fat cell differentiation|positive regulation of cell proliferation early endosome|extracellular space|late endosome|membrane fraction|membrane raft|plasma membrane|proteinaceous extracellular matrix frizzled binding|frizzled-2 binding|signal transducer activity endometrium(2)|large_intestine(6)|lung(4)|prostate(1) 13 BRCA - Breast invasive adenocarcinoma(9;0.0257) AGGTCCCTCTCCGTGGGTGGCT 0.589000 60 18 0 0 6.4e-05 0 0 HIF3A 64344 broad.mit.edu 37 19 46828875 46828875 + Missense_Mutation SNP G T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:46828875G>T uc002peh.3 + 10 1450 c.1419G>T c.(1417-1419)gaG>gaT p.E473D HIF3A_uc002peg.4_Missense_Mutation_p.E473D|HIF3A_uc010xxx.2_Non-coding_Transcript|HIF3A_uc021uwf.1_Missense_Mutation_p.E417D|HIF3A_uc002pej.2_Missense_Mutation_p.E404D|HIF3A_uc010xxy.2_Missense_Mutation_p.E404D|HIF3A_uc002pel.3_Missense_Mutation_p.E471D|HIF3A_uc010xxz.2_Missense_Mutation_p.E422D NM_152795 NP_690008 Q9Y2N7 HIF3A_HUMAN Homo sapiens hypoxia inducible factor 3, alpha subunit (HIF3A), transcript variant 3, mRNA. 473 NTAD.|ODD. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|signal transducer activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(14)|prostate(1)|skin(6)|upper_aerodigestive_tract(1) 33 Ovarian(192;0.00965)|all_neural(266;0.0887) OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136) AGGCAGTGGAGACAGATTTAG 0.512000 55 39 5.59293e-11 1.62786e-10 0.00148497 1 0 CACNA1G 8913 broad.mit.edu 37 17 48703397 48703398 + Missense_Mutation DNP CC TT TT TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr17:48703397_48703398CC>TT uc002irk.1 + 37 6791_6792 c.6419_6420CC>TT c.(6418-6420)tcc>tTT p.S2140F CACNA1G_uc002irj.1_Missense_Mutation_p.S2013F|CACNA1G_uc002irl.1_Missense_Mutation_p.S2024F|CACNA1G_uc002irm.1_Missense_Mutation_p.S2061F|CACNA1G_uc002irn.1_Missense_Mutation_p.S2006F|CACNA1G_uc002iro.1_Missense_Mutation_p.S2013F|CACNA1G_uc002irp.1_Missense_Mutation_p.S2095F|CACNA1G_uc002irq.1_Missense_Mutation_p.S2117F|CACNA1G_uc002irr.1_Missense_Mutation_p.S2047F|CACNA1G_uc002irs.1_Missense_Mutation_p.S2084F|CACNA1G_uc002irt.1_Missense_Mutation_p.S2029F|CACNA1G_uc002iru.1_Missense_Mutation_p.S2106F|CACNA1G_uc002irv.1_Missense_Mutation_p.S2036F|CACNA1G_uc002irw.1_Missense_Mutation_p.S2069F|CACNA1G_uc002irx.1_Missense_Mutation_p.S1960F|CACNA1G_uc002iry.1_Missense_Mutation_p.S1949F|CACNA1G_uc002isg.1_Missense_Mutation_p.S1908F|CACNA1G_uc002ish.1_Missense_Mutation_p.S1915F|CACNA1G_uc002isi.1_Missense_Mutation_p.S1903F|CACNA1G_uc002irz.1_Missense_Mutation_p.S1953F|CACNA1G_uc002isa.1_Missense_Mutation_p.S1926F|CACNA1G_uc002isd.1_Missense_Mutation_p.S1935F|CACNA1G_uc002isb.1_Missense_Mutation_p.S1967F|CACNA1G_uc002isc.1_Missense_Mutation_p.S2042F|CACNA1G_uc002ise.1_Missense_Mutation_p.S1963F|CACNA1G_uc002isf.1_Missense_Mutation_p.S1990F NM_018896 NP_061496 O43497 CAC1G_HUMAN Homo sapiens calcium channel, voltage-dependent, T type, alpha 1G subunit (CACNA1G), transcript variant 1, mRNA. 2140 axon guidance voltage-gated calcium channel complex low voltage-gated calcium channel activity breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23) 47 Breast(11;6.7e-17) BRCA - Breast invasive adenocarcinoma(22;7.52e-09) Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909) AGGACTGACTCCTTGGACGTTC 0.649000 OREG0024569 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 31 40 0 0 6.4e-05 0 0 CDRT15P1 94158 broad.mit.edu 37 17 13928350 13928350 + RNA SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr17:13928350G>A uc002god.1 + 0 c.536G>A Homo sapiens CMT1A duplicated region transcript 15 pseudogene 1 (CDRT15P1), non-coding RNA. TCCAGCCAAGGACCAGACCAA 0.602000 3 43 0 0 0.00361006 0 0 SPAG9 9043 broad.mit.edu 37 17 49052262 49052262 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr17:49052262G>A uc002itc.3 - 27 3779 c.3570C>T c.(3568-3570)atC>atT p.I1190I SPAG9_uc002itd.3_Silent_p.I1180I|SPAG9_uc002itb.3_Silent_p.I1176I|SPAG9_uc002ita.3_Silent_p.I1046I NM_001130528 NP_001124000 O60271 JIP4_HUMAN Homo sapiens sperm associated antigen 9 (SPAG9), transcript variant 1, mRNA. 1190 positive regulation of cell migration|positive regulation of muscle cell differentiation|retrograde transport, endosome to Golgi|spermatogenesis acrosomal vesicle|integral to membrane|perinuclear region of cytoplasm NS(1)|breast(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1) 37 BRCA - Breast invasive adenocarcinoma(22;4.24e-07) CATATACACGGATTACACTTC 0.413000 21 29 0 0 0.001512 0 0 SAMD4A 23034 broad.mit.edu 37 14 55251268 55251268 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr14:55251268C>T uc001xbb.3 + 10 2363 c.2055C>T c.(2053-2055)ccC>ccT p.P685P SAMD4A_uc001xbc.3_Silent_p.P598P|SAMD4A_uc001xbg.2_Silent_p.P313P NM_015589 NP_056404 Q9UPU9 SMAG1_HUMAN Homo sapiens sterile alpha motif domain containing 4A (SAMD4A), transcript variant 1, mRNA. 686 positive regulation of translation cell junction|cytoplasm|dendrite|synapse|synaptosome translation repressor activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1) 29 TCCAGCTTCCCGTGACCGAAC 0.542000 69 35 0 0 0.00170553 0 0 F8 2157 broad.mit.edu 37 X 154182201 154182201 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chrX:154182201C>T uc004fmt.3 - 11 2040 c.1869G>A c.(1867-1869)gaG>gaA p.E623E NM_000132 NP_000123 P00451 FA8_HUMAN Homo sapiens coagulation factor VIII, procoagulant component (F8), transcript variant 1, mRNA. 623 F5/8 type A 2.|Plastocyanin-like 4. acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation extracellular space|plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity|protein binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2) 120 all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055) ACTCTGGATCCTCAAGCTGCA 0.438000 9 82 0 0 0.00361006 0 0 IL31RA 133396 broad.mit.edu 37 5 55212752 55212752 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr5:55212752C>T uc003jql.3 + 14 2291 c.2099C>T c.(2098-2100)tCc>tTc p.S700F IL31RA_uc003jqm.3_Intron|IL31RA_uc003jqn.3_Intron|IL31RA_uc021xyq.1_Missense_Mutation_p.S681F|IL31RA_uc003jqo.3_Missense_Mutation_p.S558F NM_139017 NP_001229568 Q8NI17 IL31R_HUMAN Homo sapiens interleukin 31 receptor A (IL31RA), transcript variant 1, mRNA. 668 JAK-STAT cascade|MAPKKK cascade|anti-apoptosis|defense response|homeostatic process|macrophage differentiation|monocyte differentiation|negative regulation of macrophage activation|positive regulation of cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|transmembrane receptor protein tyrosine kinase signaling pathway integral to membrane|plasma membrane cytokine receptor activity|protein kinase binding|transcription coactivator activity endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|stomach(1) 21 Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223) CCCAGAAAATCCCAATACCTA 0.512000 60 41 0 0 0.00148497 0 0 LPHN2 23266 broad.mit.edu 37 1 82409080 82409080 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:82409080C>T uc001dit.4 + 5 1006 c.825C>T c.(823-825)gtC>gtT p.V275V LPHN2_uc001dis.3_Intron|LPHN2_uc001diu.3_Silent_p.V275V|LPHN2_uc001div.3_Silent_p.V275V|LPHN2_uc009wcd.3_Silent_p.V275V NM_012302 NP_036434 O95490 LPHN2_HUMAN Homo sapiens latrophilin 2 (LPHN2), mRNA. 275 Olfactomedin-like. neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 119 all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248) GTTTATGGGTCATTTACGCCA 0.418000 26 56 0 0 0.00361006 0 0 C5orf45 51149 broad.mit.edu 37 5 179269064 179269064 + Splice_Site SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr5:179269064C>T uc003mla.3 - 5 336 c.292_splice c.e5-1 p.E98_splice C5orf45_uc003mky.2_Splice_Site_p.E95_splice|C5orf45_uc011dgt.1_Splice_Site_p.E98_splice|C5orf45_uc011dgu.1_Splice_Site_p.E43_splice|C5orf45_uc003mlc.3_Splice_Site_p.E43_splice|C5orf45_uc003mlb.3_Splice_Site|C5orf45_uc021yjh.1_5'Flank NM_016175 NP_057259 Q6NTE8 CE045_HUMAN Homo sapiens chromosome 5 open reading frame 45 (C5orf45), transcript variant 1, mRNA. 98 breast(2)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1) 12 TGCGATTTTTCCTGCCAGATT 0.488000 239 10 0 0 0.000673444 0 0 ODZ4 26011 broad.mit.edu 37 11 78412817 78412817 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr11:78412817C>T uc001ozl.4 - 27 5304 c.4841G>A c.(4840-4842)gGg>gAg p.G1614E NM_001098816 NP_001092286 Q6N022 TEN4_HUMAN Homo sapiens odz, odd Oz/ten-m homolog 4 (Drosophila) (ODZ4), mRNA. 1614 signal transduction integral to membrane breast(4)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(45)|ovary(3)|pancreas(2)|prostate(4)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 95 GTCGCCGTCCCCAGTGTAGGT 0.547000 46 63 0 0 0.00361006 0 0 TMEM215 401498 broad.mit.edu 37 9 32784861 32784861 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr9:32784861G>A uc022bfh.1 + 0 680 c.680G>A c.(679-681)gGc>gAc p.G227D TMEM215_uc003zri.4_Missense_Mutation_p.G227D NM_212558 NP_997723 Q68D42 TM215_HUMAN Homo sapiens transmembrane protein 215 (TMEM215), mRNA. 227 integral to membrane endometrium(4)|kidney(1)|large_intestine(3)|lung(2)|prostate(2) 12 CAGATACAAGGCAGGTGGGAC 0.473000 4 33 0 0 0.0024448 0 0 HRNR 388697 broad.mit.edu 37 1 152187684 152187684 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:152187684C>T uc001ezt.1 - 2 6497 c.6421G>A c.(6421-6423)Gga>Aga p.G2141R NM_001009931 NP_001009931 Q86YZ3 HORN_HUMAN Homo sapiens hornerin (HRNR), mRNA. 2141 keratinization calcium ion binding|protein binding p.G2141E(1) autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6) 192 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GATGACTGTCCTGATCTAGAG 0.587000 667 49 0 0 0.00361006 0 0 SLC11A2 4891 broad.mit.edu 37 12 51382183 51382183 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr12:51382183G>A uc001rxk.2 - 15 1748 c.1698C>T c.(1696-1698)ttC>ttT p.F566F SLC11A2_uc001rxd.4_Silent_p.F386F|SLC11A2_uc001rxf.3_Non-coding_Transcript|SLC11A2_uc001rxe.4_Silent_p.F537F|SLC11A2_uc001rxc.4_Silent_p.F537F|SLC11A2_uc001rxg.2_Silent_p.F150F|SLC11A2_uc010smx.2_Silent_p.F533F|SLC11A2_uc001rxh.2_Silent_p.F537F|SLC11A2_uc010smy.2_Silent_p.F500F|SLC11A2_uc001rxj.2_Silent_p.F537F|SLC11A2_uc001rxi.3_Silent_p.F537F NM_001174125 NP_001167596 P49281 NRAM2_HUMAN Homo sapiens solute carrier family 11 (proton-coupled divalent metal ion transporters), member 2 (SLC11A2), transcript variant 1, mRNA. 537 activation of caspase activity|cellular iron ion homeostasis|cellular response to oxidative stress|detection of oxygen|ferrous iron import|multicellular organismal iron ion homeostasis|response to hypoxia|response to iron ion apical plasma membrane|basal part of cell|cell surface|cytoplasmic vesicle|early endosome|late endosome|late endosome membrane|lysosomal membrane|lysosome|nucleus|paraferritin complex|perinuclear region of cytoplasm|plasma membrane|recycling endosome|trans-Golgi network cadmium ion transmembrane transporter activity|cobalt ion transmembrane transporter activity|copper ion transmembrane transporter activity|ferrous iron transmembrane transporter activity|lead ion transmembrane transporter activity|manganese ion transmembrane transporter activity|nickel ion transmembrane transporter activity|protein binding|solute:hydrogen symporter activity|vanadium ion transmembrane transporter activity|zinc ion transmembrane transporter activity breast(2)|cervix(1)|endometrium(3)|kidney(16)|large_intestine(4)|lung(9)|upper_aerodigestive_tract(1) 36 CACAGTCCAGGAAGGACATGC 0.488000 42 34 0 0 0.00148497 0 0 HAMP 57817 broad.mit.edu 37 19 35775857 35775857 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:35775857G>A uc002nyw.3 + 2 238 c.167G>A c.(166-168)cGa>cAa p.R56Q NM_021175 NP_066998 P81172 HEPC_HUMAN Homo sapiens hepcidin antimicrobial peptide (HAMP), mRNA. 56 defense response to bacterium|defense response to fungus|immune response|killing of cells of other organism extracellular region hormone activity p.R56*(1) breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1) 4 all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162) Epithelial(14;7.4e-20)|OV - Ovarian serous cystadenocarcinoma(14;6.47e-19)|all cancers(14;4.17e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417) TTCCAGAGGCGAAGGAGGCGA 0.582000 44 37 0 0 0.00222228 0 0 SLC9B1 150159 broad.mit.edu 37 4 103866440 103866440 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr4:103866440G>A uc003hww.3 - 5 705 c.563C>T c.(562-564)gCt>gTt p.A188V SLC9B1_uc003hwu.3_Missense_Mutation_p.A188V|SLC9B1_uc010ilm.3_Intron|SLC9B1_uc003hwv.3_Intron|SLC9B1_uc011cev.2_Intron NM_139173 NP_631912 Q4ZJI4 NHDC1_HUMAN Homo sapiens solute carrier family 9, subfamily B (cation proton antiporter 2), member 1 (SLC9B1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 188 integral to membrane solute:hydrogen antiporter activity TGGACCTACAGCCAATCTGAA 0.383000 64 32 0 0 0.00128727 0 0 SDK2 54549 broad.mit.edu 37 17 71334736 71334736 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr17:71334736G>A uc010dfm.3 - 44 6509 c.6509C>T c.(6508-6510)tCa>tTa p.S2170L SDK2_uc002jjt.4_Missense_Mutation_p.S1310L NM_001144952 NP_001138424 Q58EX2 SDK2_HUMAN Homo sapiens sidekick cell adhesion molecule 2 (SDK2), mRNA. 2170 cell adhesion integral to membrane breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 86 TCAAACAAATGATGAAAATCC 0.552000 16 7 0 0 0.00307968 0 0 SLC9A9 285195 broad.mit.edu 37 3 143550971 143550971 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr3:143550971G>A uc003evn.3 - 1 477 c.268C>T c.(268-270)Cca>Tca p.P90S SLC9A9_uc011bnk.2_Intron NM_173653 NP_775924 Q8IVB4 SL9A9_HUMAN Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 9 (SLC9A9), mRNA. 90 regulation of pH integral to membrane|late endosome membrane|recycling endosome sodium:hydrogen antiporter activity breast(2)|endometrium(5)|kidney(2)|large_intestine(13)|lung(29)|ovary(2)|skin(3)|stomach(1) 57 AGAGTTGATGGACTGAAAGTT 0.338000 66 46 0 0 0.00361006 0 0 HYDIN 54768 broad.mit.edu 37 GL000192.1 148007 148007 + RNA SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chrGL000192.1:148007G>A uc010yih.1 - 12 c.2678C>T Q4G0P3 HYDIN_HUMAN Homo sapiens mRNA for KIAA1864 protein, partial cds. breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 43 Ovarian(137;0.0654) TGACAGCTGGGAAATGGTTCC 0.522000 10 5 0 0 0.00116845 0 0 RINT1 60561 broad.mit.edu 37 7 105205745 105205745 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr7:105205745G>A uc003vda.1 + 12 2139 c.1908G>A c.(1906-1908)caG>caA p.Q636Q RINT1_uc010ljj.1_Silent_p.Q211Q|EFCAB10_uc003vdb.3_3'UTR|BC007100_uc003vdd.1_5'Flank NM_021930 NP_068749 Q6NUQ1 RINT1_HUMAN Homo sapiens RAD50 interactor 1 (RINT1), mRNA. 636 RINT1/TIP20. G2/M transition DNA damage checkpoint|cell cycle|protein transport|vesicle-mediated transport endoplasmic reticulum membrane protein binding central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 22 TGCCATCTCAGTCAGAGCAGG 0.403000 94 19 0 0 0.00121646 0 0 CNTN5 53942 broad.mit.edu 37 11 100179157 100179157 + Nonsense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr11:100179157G>A uc001pga.3 + 20 3191 c.2687G>A c.(2686-2688)tGg>tAg p.W896* CNTN5_uc001pfz.3_Nonsense_Mutation_p.W896*|CNTN5_uc021qpb.1_Nonsense_Mutation_p.W896*|CNTN5_uc021qpc.1_Nonsense_Mutation_p.W822*|CNTN5_uc010ruk.2_Nonsense_Mutation_p.W167* NM_014361 NP_055176 O94779 CNTN5_HUMAN Homo sapiens contactin 5 (CNTN5), transcript variant 1, mRNA. 896 Fibronectin type-III 3. cell adhesion anchored to membrane|plasma membrane protein binding NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 81 all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219) BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196) CTTGTTGCATGGAAACACATT 0.393000 3 22 0 0 0.00395357 0 0 KRTAP19-2 337969 broad.mit.edu 37 21 31859583 31859583 + Missense_Mutation SNP C T T rs137856992 byFrequency TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr21:31859583C>T uc011acy.2 - 0 85 c.85G>A c.(85-87)Ggc>Agc p.G29S NM_181608 NP_853639 Q3LHN2 KR192_HUMAN Homo sapiens keratin associated protein 19-2 (KRTAP19-2), mRNA. 29 intermediate filament endometrium(1)|kidney(1)|large_intestine(2)|lung(1) 5 CCTCTGTGGCCACAACCATAT 0.532000 122 80 0 0 0.00361006 0 0 TOP1 7150 broad.mit.edu 37 20 39741563 39741563 + Nonsense_Mutation SNP A T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr20:39741563A>T uc002xjl.3 + 13 1696 c.1450A>T c.(1450-1452)Aag>Tag p.K484* BC035080_uc002xjn.1_Intron NM_003286 NP_003277 P11387 TOP1_HUMAN Homo sapiens topoisomerase (DNA) I (TOP1), mRNA. 484 DNA topological change|interspecies interaction between organisms|phosphorylation|programmed cell death|response to drug chromosome|nucleolus|nucleoplasm ATP binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity|chromatin DNA binding|protein binding p.K484N(1) breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1) 37 Myeloproliferative disorder(115;0.00878) Irinotecan(DB00762)|Lucanthone(DB04967)|Topotecan(DB01030) CTTCATCGACAAGGTGAGAGC 0.488000 T NUP98 AML* 24 32 0 0 0.00283554 0 0 HRASLS5 117245 broad.mit.edu 37 11 63235936 63235936 + Splice_Site SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr11:63235936C>T uc001nwy.2 - 4 550 c.376_splice c.e4-1 p.G126_splice HRASLS5_uc001nwz.2_Splice_Site_p.G116_splice|HRASLS5_uc010rmq.1_Splice_Site_p.G126_splice|HRASLS5_uc009yos.2_Intron NM_054108 NP_473449 Q96KN8 HRSL5_HUMAN Homo sapiens HRAS-like suppressor family, member 5 (HRASLS5), transcript variant 1, mRNA. 126 endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1) 14 TCTTGGTTTTCCCTATAATGG 0.453000 19 36 0 0 0.000814825 0 0 ADH7 131 broad.mit.edu 37 4 100349317 100349317 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr4:100349317G>A uc003huv.2 - 3 551 c.310C>T c.(310-312)Cct>Tct p.P104S ADH7_uc021xqj.1_Missense_Mutation_p.P112S NM_000673 NP_000664 P40394 ADH7_HUMAN Homo sapiens alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide (ADH7), transcript variant 2, mRNA. 104 ethanol oxidation|fatty acid omega-oxidation|response to bacterium|response to ethanol|xenobiotic metabolic process cytosol|soluble fraction alcohol dehydrogenase activity, zinc-dependent|aldehyde oxidase activity|ethanol binding|receptor antagonist activity|retinol binding|retinol dehydrogenase activity breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1) 19 OV - Ovarian serous cystadenocarcinoma(123;1.75e-08) NADH(DB00157) AGAAAGAGAGGGATGACTTTG 0.358000 55 35 0 0 0.00327116 0 0 SLC8A3 6547 broad.mit.edu 37 14 70634988 70634988 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr14:70634988G>A uc001xly.3 - 1 906 c.152C>T c.(151-153)tCa>tTa p.S51L SLC8A3_uc001xlw.3_Missense_Mutation_p.S51L|SLC8A3_uc001xlx.3_Missense_Mutation_p.S51L|SLC8A3_uc001xlz.3_Missense_Mutation_p.S51L|SLC8A3_uc010ara.3_Non-coding_Transcript NM_183002 NP_892114 P57103 NAC3_HUMAN Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 3 (SLC8A3), transcript variant c, mRNA. 51 cell communication|platelet activation integral to membrane|plasma membrane calcium:sodium antiporter activity|calmodulin binding NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6) 54 BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555) GCAGTCCGATGACCCTGAACA 0.557000 14 24 0 0 0.000720815 0 0 RAD23A 5886 broad.mit.edu 37 19 13059062 13059062 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:13059062C>T uc002mvw.1 + 2 415 c.306C>T c.(304-306)tcC>tcT p.S102S RAD23A_uc002mvz.1_Silent_p.S102S|RAD23A_uc010xmw.1_5'UTR NM_005053 NP_005044 P54725 RD23A_HUMAN Homo sapiens RAD23 homolog A (S. cerevisiae) (RAD23A), mRNA. 102 interspecies interaction between organisms|nucleotide-excision repair|positive regulation of viral genome replication|proteasomal ubiquitin-dependent protein catabolic process|regulation of proteasomal ubiquitin-dependent protein catabolic process nucleus|proteasome complex damaged DNA binding|polyubiquitin binding|single-stranded DNA binding central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1) 12 CCTCTACATCCTTCCCGCCTG 0.642000 Nucleotide excision repair (NER) 24 8 0 0 0.000274275 0 0 SPTB 6710 broad.mit.edu 37 14 65233428 65233428 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr14:65233428G>A uc001xht.3 - 30 6412 c.6361C>T c.(6361-6363)Cgt>Tgt p.R2121C SPTB_uc001xhr.3_Intron|SPTB_uc001xhs.3_Intron|SPTB_uc001xhu.3_Missense_Mutation_p.R2121C|SPTB_uc010aqi.3_Intron NM_000347 NP_000338 P11277 SPTB1_HUMAN Homo sapiens spectrin, beta, erythrocytic (SPTB), transcript variant 2, mRNA. 2121 actin filament capping|axon guidance cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton actin filament binding|structural constituent of cytoskeleton breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3) 106 all_lung(585;4.15e-09) all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628) CTAGACAAACGAGACCAGAGA 0.637000 112 36 0 0 0.000953801 0 0 ALDH18A1 5832 broad.mit.edu 37 10 97397094 97397094 + Nonsense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr10:97397094G>A uc001kkz.3 - 3 645 c.403C>T c.(403-405)Cag>Tag p.Q135* ALDH18A1_uc001kky.3_Nonsense_Mutation_p.Q135*|ALDH18A1_uc010qog.2_Nonsense_Mutation_p.Q24*|ALDH18A1_uc010qoh.2_Intron NM_002860 NP_002851 P54886 P5CS_HUMAN Homo sapiens aldehyde dehydrogenase 18 family, member A1 (ALDH18A1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 135 Glutamate 5-kinase. proline biosynthetic process mitochondrial inner membrane ATP binding|glutamate 5-kinase activity|glutamate-5-semialdehyde dehydrogenase activity central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(9)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 Colorectal(252;0.0402) Epithelial(162;9.1e-07)|all cancers(201;2.55e-05) L-Glutamic Acid(DB00142) CGCACGCTCTGAGACAGAAGG 0.552000 45 6 0 0 0.00198382 0 0 PPY 5539 broad.mit.edu 37 17 42018914 42018914 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr17:42018914G>A uc002iep.3 - 1 154 c.109C>T c.(109-111)Cca>Tca p.P37S NM_002722 NP_002713 P01298 PAHO_HUMAN Homo sapiens pancreatic polypeptide (PPY), mRNA. 37 digestion|protein secretion extracellular region hormone activity large_intestine(2)|lung(1)|skin(1) 4 Breast(137;0.00314)|Prostate(33;0.0724) BRCA - Breast invasive adenocarcinoma(366;0.113) TTGTCCCCTGGGTACACTGGC 0.612000 51 17 0 0 0.000566183 0 0 CCDC60 160777 broad.mit.edu 37 12 119909887 119909887 + Nonsense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr12:119909887C>T uc001txe.3 + 2 724 c.259C>T c.(259-261)Cag>Tag p.Q87* AF086288_uc001txf.3_Intron NM_178499 NP_848594 Q8IWA6 CCD60_HUMAN Homo sapiens coiled-coil domain containing 60 (CCDC60), mRNA. 87 endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 40 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.207) ACAACAACTTCAGAAACTGAA 0.428000 100 50 0 0 0.00361006 0 0 NGLY1 55768 broad.mit.edu 37 3 25805596 25805596 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr3:25805596G>A uc003cdl.3 - 2 561 c.453C>T c.(451-453)aaC>aaT p.N151N NGLY1_uc010hfg.3_Silent_p.N151N|NGLY1_uc003cdm.3_Silent_p.N151N|NGLY1_uc011awo.2_Silent_p.N109N|NGLY1_uc003cdk.3_Non-coding_Transcript NM_018297 NP_060767 Q96IV0 NGLY1_HUMAN Homo sapiens N-glycanase 1 (NGLY1), transcript variant 1, mRNA. 151 glycoprotein catabolic process cytoplasm metal ion binding|peptide-N4-(N-acetyl-beta-glucosaminyl)asparagine amidase activity|protein binding breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1) 18 GCCCTTGACGGTTCCTTGTGT 0.438000 60 16 0 0 0.00074312 0 0 SIX4 51804 broad.mit.edu 37 14 61180337 61180337 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr14:61180337G>A uc001xfc.3 - 2 2194 c.2134C>T c.(2134-2136)Cgt>Tgt p.R712C NM_017420 NP_059116 Q9UIU6 SIX4_HUMAN Homo sapiens SIX homeobox 4 (SIX4), mRNA. 712 nucleus p.R712L(1) breast(5)|endometrium(1)|large_intestine(11)|liver(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 OV - Ovarian serous cystadenocarcinoma(108;0.0275) AGAACCAAACGATGTTCTTGG 0.443000 30 15 0 0 0.00316338 0 0 SSFA2 6744 broad.mit.edu 37 2 182783380 182783380 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:182783380C>T uc002uoi.3 + 11 3165 c.2843C>T c.(2842-2844)tCa>tTa p.S948L SSFA2_uc002uoh.3_Missense_Mutation_p.S948L|SSFA2_uc002uoj.3_Missense_Mutation_p.S948L|SSFA2_uc002uok.3_Non-coding_Transcript|SSFA2_uc010zfo.2_Missense_Mutation_p.S795L|SSFA2_uc002uol.3_Missense_Mutation_p.S795L|SSFA2_uc002uom.3_Missense_Mutation_p.S416L NM_001130445 NP_001123917 P28290 SSFA2_HUMAN Homo sapiens sperm specific antigen 2 (SSFA2), transcript variant 1, mRNA. 948 cytoplasm|plasma membrane actin binding breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(18)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 38 OV - Ovarian serous cystadenocarcinoma(117;0.0856) ACTCAGAAATCATCTGTTCTA 0.313000 62 30 0 0 0.00375469 0 0 DAGLA 747 broad.mit.edu 37 11 61507965 61507965 + Silent SNP T C C TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr11:61507965T>C uc001nsa.3 + 17 2000 c.1884T>C c.(1882-1884)ttT>ttC p.F628F NM_006133 NP_006124 Q9Y4D2 DGLA_HUMAN Homo sapiens diacylglycerol lipase, alpha (DAGLA), mRNA. 628 cell death|lipid catabolic process|platelet activation integral to membrane|plasma membrane acylglycerol lipase activity|metal ion binding|triglyceride lipase activity breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4) 43 READ - Rectum adenocarcinoma(4;0.219) CCACATACTTTGCCATCTGGG 0.607000 88 47 0 0 0.00361006 0 0 GLI1 2735 broad.mit.edu 37 12 57865042 57865042 + Missense_Mutation SNP G A A rs138706434 by1000genomes TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr12:57865042G>A uc001snx.3 + 11 2613 c.2519G>A c.(2518-2520)gGg>gAg p.G840E GLI1_uc021qzi.1_Missense_Mutation_p.G799E|GLI1_uc009zpq.3_Missense_Mutation_p.G712E NM_005269 NP_001153517 P08151 GLI1_HUMAN Homo sapiens GLI family zinc finger 1 (GLI1), transcript variant 1, mRNA. 840 epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter cytosol|nucleus transcription regulatory region DNA binding|zinc ion binding NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 69 GBM - Glioblastoma multiforme(3;3.99e-32) CCCAGTGAGGGGCCCCCACAT 0.587000 27 30 0 0 0.00375469 0 0 TM7SF3 51768 broad.mit.edu 37 12 27127114 27127114 + Silent SNP A G G TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr12:27127114A>G uc010sjl.2 - 11 1735 c.1497T>C c.(1495-1497)atT>atC p.I499I NM_016551 NP_057635 Q9NS93 TM7S3_HUMAN Homo sapiens transmembrane 7 superfamily member 3 (TM7SF3), mRNA. 499 integral to membrane|plasma membrane breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2) 18 Colorectal(261;0.0847) TCTGTAACGTAATTCCACTTA 0.428000 24 24 0 0 0.00332997 0 0 C19orf18 147685 broad.mit.edu 37 19 58477955 58477955 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:58477955G>A uc002qqv.3 - 3 416 c.314C>T c.(313-315)tCg>tTg p.S105L NM_152474 NP_689687 Q8NEA5 CS018_HUMAN Homo sapiens chromosome 19 open reading frame 18 (C19orf18), mRNA. 105 integral to membrane p.S105L(2) large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|prostate(1) 8 Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017) GGCTACGCTCGAAATTAAAAT 0.348000 23 67 0 0 0.00361006 0 0 ST8SIA3 51046 broad.mit.edu 37 18 55027470 55027470 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr18:55027470G>A uc002lgn.3 + 3 1462 c.1105G>A c.(1105-1107)Gaa>Aaa p.E369K NM_015879 NP_056963 O43173 SIA8C_HUMAN Homo sapiens ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 3 (ST8SIA3), mRNA. 369 N-glycan processing|glycosphingolipid biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine integral to Golgi membrane alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(16)|prostate(1)|skin(3) 36 READ - Rectum adenocarcinoma(59;0.19)|Colorectal(16;0.205) AATGCATGGGGAAGGGCTCAC 0.473000 24 12 0 0 0.00244969 0 0 PDE1A 5136 broad.mit.edu 37 2 183095838 183095838 + Silent SNP G A A rs142773553 TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:183095838G>A uc002uos.3 - 5 570 c.486C>T c.(484-486)ttC>ttT p.F162F PDE1A_uc010zfp.1_Silent_p.F58F|PDE1A_uc002uoq.1_Silent_p.F162F|PDE1A_uc010zfq.1_Silent_p.F162F|PDE1A_uc002uor.3_Silent_p.F146F|PDE1A_uc002uou.3_Silent_p.F128F NM_001003683 NP_001003683 P54750 PDE1A_HUMAN Homo sapiens phosphodiesterase 1A, calmodulin-dependent (PDE1A), transcript variant 2, mRNA. 162 activation of phospholipase C activity|nerve growth factor receptor signaling pathway|platelet activation cytosol 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2) 35 OV - Ovarian serous cystadenocarcinoma(117;0.061) CAAATACATCGAAAGACCATT 0.328000 84 58 0 0 0.00361006 0 0 CATSPER1 117144 broad.mit.edu 37 11 65790384 65790384 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr11:65790384G>A uc001ogt.3 - 1 1503 c.1365C>T c.(1363-1365)ttC>ttT p.F455F NM_053054 NP_444282 Q8NEC5 CTSR1_HUMAN Homo sapiens cation channel, sperm associated 1 (CATSPER1), mRNA. 455 cell differentiation|multicellular organismal development|spermatogenesis cilium|flagellar membrane|integral to membrane protein binding breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 44 GGCAGACAACGAAGAAGATGA 0.552000 OREG0021092 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 61 20 0 0 0.00152264 0 0 SNCAIP 9627 broad.mit.edu 37 5 121786742 121786742 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr5:121786742C>T uc003ksw.1 + 9 2406 c.2200C>T c.(2200-2202)Cct>Tct p.P734S SNCAIP_uc011cwl.1_Missense_Mutation_p.P292S|SNCAIP_uc003ksy.1_Missense_Mutation_p.P368S|SNCAIP_uc003ksx.1_Missense_Mutation_p.P781S|SNCAIP_uc003ksz.1_Missense_Mutation_p.P368S|SNCAIP_uc010jcu.2_Missense_Mutation_p.P330S|SNCAIP_uc011cwm.1_Missense_Mutation_p.P368S|SNCAIP_uc003kta.1_Missense_Mutation_p.P366S|SNCAIP_uc010jcv.1_Non-coding_Transcript|SNCAIP_uc010jcw.1_Missense_Mutation_p.P428S|SNCAIP_uc010jcx.1_Missense_Mutation_p.P674S|BC029465_uc003ktb.1_Intron|SNCAIP_uc003ktc.1_Missense_Mutation_p.P250S NM_005460 NP_005451 Q9Y6H5 SNCAP_HUMAN Homo sapiens synuclein, alpha interacting protein (SNCAIP), transcript variant 1, mRNA. 734 cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion cytoplasm|neuronal cell body|nucleolus|presynaptic membrane ubiquitin protein ligase binding NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1) 39 all_cancers(142;0.00787)|Prostate(80;0.0327) KIRC - Kidney renal clear cell carcinoma(527;0.206) OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232) ACGCAGGTTTCCTTTCAGCAT 0.547000 14 34 0 0 0.00283554 0 0 SART3 9733 broad.mit.edu 37 12 108939021 108939021 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr12:108939021G>A uc001tmz.1 - 3 858 c.623C>T c.(622-624)tCc>tTc p.S208F SART3_uc009zux.1_5'UTR|SART3_uc010swx.1_Missense_Mutation_p.S208F|SART3_uc010swy.1_Missense_Mutation_p.S76F|SART3_uc010swz.1_Missense_Mutation_p.S208F|SART3_uc001tna.1_Non-coding_Transcript NM_014706 NP_055521 Q15020 SART3_HUMAN Homo sapiens squamous cell carcinoma antigen recognized by T cells 3 (SART3), mRNA. 208 RNA processing cytoplasm|nuclear speck RNA binding|nucleotide binding|protein binding NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|stomach(1) 25 TTCAAACACGGAGCGAACTTT 0.468000 Porokeratosis 40 44 0 0 0.00285205 0 0 SCAF1 58506 broad.mit.edu 37 19 50156105 50156105 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:50156105C>T uc002poq.3 + 6 2583 c.2459C>T c.(2458-2460)tCa>tTa p.S820L NM_021228 NP_067051 Q9H7N4 SFR19_HUMAN Homo sapiens SR-related CTD-associated factor 1 (SCAF1), mRNA. 820 Ser-rich. RNA splicing|mRNA processing nucleus RNA binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 20 all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204) TCAGGCTCTTCATCCTCGTCG 0.657000 39 8 0 0 0.000442599 0 0 SPAG7 9552 broad.mit.edu 37 17 4863768 4863768 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr17:4863768G>A uc002gae.3 - 2 261 c.228C>T c.(226-228)atC>atT p.I76I SPAG7_uc002gaf.3_Silent_p.I76I NM_004890 NP_004881 O75391 SPAG7_HUMAN Homo sapiens sperm associated antigen 7 (SPAG7), mRNA. 76 R3H. nucleus nucleic acid binding|protein binding central_nervous_system(1)|endometrium(1)|kidney(2)|lung(3)|ovary(2)|urinary_tract(1) 10 TGCTCCTCTCGATCTTGTTCA 0.552000 10 205 0 0 0.00361006 0 0 UBE3B 89910 broad.mit.edu 37 12 109936079 109936079 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr12:109936079C>T uc001top.3 + 10 1464 c.861C>T c.(859-861)ttC>ttT p.F287F UBE3B_uc001toq.3_Silent_p.F287F|UBE3B_uc001too.1_Non-coding_Transcript|UBE3B_uc009zvj.1_Silent_p.F287F NM_130466 NP_904324 Q7Z3V4 UBE3B_HUMAN Homo sapiens ubiquitin protein ligase E3B (UBE3B), transcript variant 1, mRNA. 287 protein ubiquitination involved in ubiquitin-dependent protein catabolic process intracellular ubiquitin-protein ligase activity NS(1)|breast(3)|endometrium(6)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|urinary_tract(2) 45 TTCGTAAATTCATCATATTTT 0.418000 112 55 0 0 0.00361006 0 0 PRSS37 136242 broad.mit.edu 37 7 141536973 141536973 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr7:141536973C>T uc003vws.2 - 3 878 c.506G>A c.(505-507)gGa>gAa p.G169E PRSS37_uc011krl.2_Missense_Mutation_p.G168E|PRSS37_uc011krk.2_Missense_Mutation_p.G156E|PRSS37_uc003vwt.2_Missense_Mutation_p.G156E NM_001008270 NP_001008271 A4D1T9 PRS37_HUMAN Homo sapiens protease, serine, 37 (PRSS37), transcript variant 1, mRNA. 169 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(3) 15 GTGGCTTTTTCCTTGTTCTGT 0.433000 115 23 0 0 0.00278032 0 0 PIK3C2A 5286 broad.mit.edu 37 11 17143761 17143761 + Silent SNP A G G TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr11:17143761A>G uc001mmq.4 - 13 2696 c.2631T>C c.(2629-2631)gaT>gaC p.D877D PIK3C2A_uc009ygu.1_Intron|PIK3C2A_uc010rcw.2_Silent_p.D497D|PIK3C2A_uc001mmr.3_Intron NM_002645 NP_002636 O00443 P3C2A_HUMAN Homo sapiens phosphoinositide-3-kinase, class 2, alpha polypeptide (PIK3C2A), mRNA. 877 cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling Golgi apparatus|clathrin-coated vesicle|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 58 Phosphatidylserine(DB00144) TATGAAGAATATCAAGAAGTT 0.308000 64 28 0 0 0.001512 0 0 TFR2 7036 broad.mit.edu 37 7 100229759 100229759 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr7:100229759G>A uc003uvv.1 - 6 981 c.912C>T c.(910-912)ttC>ttT p.F304F TFR2_uc010lhc.1_5'UTR|TFR2_uc003uvu.1_Silent_p.F133F NM_003227 NP_003218 Q9UP52 TFR2_HUMAN Homo sapiens transferrin receptor 2 (TFR2), transcript variant 1, mRNA. 304 cellular iron ion homeostasis|iron ion transport|proteolysis cytoplasm|integral to plasma membrane peptidase activity|transferrin receptor activity central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 23 Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439) GGTCCTGGGAGAAGTCCGCTG 0.602000 96 48 0 0 0.00361006 0 0 ZNF521 25925 broad.mit.edu 37 18 22804973 22804973 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr18:22804973G>A uc002kvk.2 - 3 3156 c.2909C>T c.(2908-2910)tCc>tTc p.S970F ZNF521_uc010xbe.1_Non-coding_Transcript|ZNF521_uc010dly.2_Missense_Mutation_p.S970F|ZNF521_uc002kvl.2_Missense_Mutation_p.S750F NM_015461 NP_056276 Q96K83 ZN521_HUMAN Homo sapiens zinc finger protein 521 (ZNF521), mRNA. 970 cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein domain specific binding|zinc ion binding NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 149 all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991) AGTTAAAAGGGAGGGAAACCG 0.488000 T PAX5 ALL 29 35 0 0 0.00170553 0 0 ADAM2 2515 broad.mit.edu 37 8 39678582 39678582 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr8:39678582G>A uc003xnj.3 - 5 527 c.452C>T c.(451-453)tCc>tTc p.S151F ADAM2_uc003xnk.3_Missense_Mutation_p.S151F|ADAM2_uc011lck.2_Missense_Mutation_p.S151F|ADAM2_uc003xnl.3_Missense_Mutation_p.S151F NM_001464 NP_001455 Q99965 ADAM2_HUMAN Homo sapiens ADAM metallopeptidase domain 2 (ADAM2), mRNA. 151 cell adhesion|fusion of sperm to egg plasma membrane|proteolysis integral to plasma membrane integrin binding|metalloendopeptidase activity|zinc ion binding p.S151F(2) haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1) 53 all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246) LUSC - Lung squamous cell carcinoma(45;0.000149) READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162) ATTATATAAGGAAACATCTGC 0.323000 60 34 0 0 0.00375469 0 0 AOX1 316 broad.mit.edu 37 2 201473810 201473810 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:201473810C>T uc002uvx.3 + 10 1112 c.1011C>T c.(1009-1011)ctC>ctT p.L337L AOX1_uc010zhf.2_5'Flank|AOX1_uc010fsu.3_5'Flank NM_001159 NP_001150 Q06278 ADO_HUMAN Homo sapiens aldehyde oxidase 1 (AOX1), mRNA. 337 FAD-binding PCMH-type. inflammatory response|reactive oxygen species metabolic process cytoplasm 2 iron, 2 sulfur cluster binding|NAD binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|xanthine dehydrogenase activity breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 81 Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909) ACCATGCTCTCCTGAAGCATT 0.512000 28 33 0 0 0.00283554 0 0 FAM65C 140876 broad.mit.edu 37 20 49219013 49219013 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr20:49219013C>T uc010zyt.2 - 12 1506 c.1255G>A c.(1255-1257)Gag>Aag p.E419K FAM65C_uc010zyu.1_Non-coding_Transcript|FAM65C_uc002xvm.3_Missense_Mutation_p.E415K|FAM65C_uc002xvn.1_Missense_Mutation_p.E415K NM_080829 NP_543019 Q96MK2 FA65C_HUMAN Homo sapiens family with sequence similarity 65, member C (FAM65C), mRNA. 415 endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(1)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 GTGCTGGTCTCCGTGTCTCGG 0.642000 53 72 0 0 0.00361006 0 0 ZNF17 7565 broad.mit.edu 37 19 57932645 57932645 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:57932645C>T uc002qop.1 + 3 2057 c.1791C>T c.(1789-1791)tcC>tcT p.S597S ZNF17_uc021vck.1_Silent_p.S588S|ZNF17_uc002qoo.1_Silent_p.S595S NM_006959 NP_008890 P17021 ZNF17_HUMAN Homo sapiens zinc finger protein 17 (ZNF17), mRNA. 595 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.0234)|GBM - Glioblastoma multiforme(193;0.000426)|Lung(386;0.176) TGGACAGCTCCACACTCATTA 0.398000 34 41 0 0 0.00195071 0 0 NELL1 4745 broad.mit.edu 37 11 20805360 20805360 + Nonsense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr11:20805360C>T uc009yid.3 + 3 556 c.403C>T c.(403-405)Cga>Tga p.R135* NELL1_uc010rdp.2_Intron|NELL1_uc001mqe.3_Nonsense_Mutation_p.R107*|NELL1_uc001mqf.3_Nonsense_Mutation_p.R107*|NELL1_uc010rdo.2_Nonsense_Mutation_p.R107* NM_006157 NP_006148 Q92832 NELL1_HUMAN Homo sapiens NEL-like 1 (chicken) (NELL1), transcript variant 1, mRNA. 107 TSP N-terminal. cell adhesion|nervous system development extracellular region calcium ion binding|structural molecule activity p.R107*(1) NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1) 70 ACTGTCCATTCGAGAACTGGA 0.418000 22 42 0 0 0.00222228 0 0 MBL2 4153 broad.mit.edu 37 10 54531369 54531369 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr10:54531369G>A uc001jjt.3 - 0 92 c.27C>T c.(25-27)ctC>ctT p.L9L NM_000242 NP_000233 P11226 MBL2_HUMAN Homo sapiens mannose-binding lectin (protein C) 2, soluble (MBL2), mRNA. 9 acute-phase response|complement activation, classical pathway|complement activation, lectin pathway|defense response to Gram-positive bacterium|negative regulation of growth of symbiont in host|opsonization|response to oxidative stress collagen|extracellular space bacterial cell surface binding|calcium-dependent protein binding|eukaryotic cell surface binding|mannose binding|receptor binding breast(1)|endometrium(2)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 21 TCAGGAGAAGGAGAGGGAGTG 0.502000 13 14 0 0 0.00316338 0 0 SSH1 54434 broad.mit.edu 37 12 109182671 109182672 + Missense_Mutation DNP GG TT TT rs141317554 TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr12:109182671_109182672GG>TT uc001tnm.3 - 14 2329_2330 c.2242_2243CC>AA c.(2242-2244)cca>AAa p.P748K SSH1_uc001tnl.3_Missense_Mutation_p.P436K NM_018984 NP_061857 Q8WYL5 SSH1_HUMAN Homo sapiens slingshot homolog 1 (Drosophila) (SSH1), transcript variant 1, mRNA. 748 actin cytoskeleton organization|cell morphogenesis|cellular response to ATP|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of cellular protein metabolic process|regulation of lamellipodium assembly cleavage furrow|cytoplasm|cytoskeleton|lamellipodium|midbody|plasma membrane actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 CAGGACTTTTGGGGTCTCTCTG 0.545000 114 7 0 0 6.4e-05 0 0 SPATA9 83890 broad.mit.edu 37 5 95011280 95011280 + Nonsense_Mutation SNP G A A rs114848300 by1000genomes TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr5:95011280G>A uc003klj.1 - 2 370 c.214C>T c.(214-216)Cga>Tga p.R72* SPATA9_uc010jbh.1_Non-coding_Transcript|SPATA9_uc003klh.1_Non-coding_Transcript|SPATA9_uc003kli.1_Intron NM_031952 NP_114158 Q9BWV2 SPAT9_HUMAN Homo sapiens spermatogenesis associated 9 (SPATA9), mRNA. 72 cell differentiation|multicellular organismal development|spermatogenesis integral to membrane p.R72L(1) large_intestine(3)|lung(4) 7 all_cancers(142;1.28e-06)|all_epithelial(76;1.55e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.00473)|Colorectal(57;0.0846)|Breast(839;0.198) all cancers(79;8.91e-16) AATGTTGCTCGATTAATCTTA 0.393000 30 42 0 0 0.00321405 0 0 CACNA1A 773 broad.mit.edu 37 19 13476261 13476261 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:13476261C>T uc002mwy.3 - 4 890 c.654G>A c.(652-654)tcG>tcA p.S218S CACNA1A_uc010xnd.2_Silent_p.S218S|CACNA1A_uc021ups.1_Silent_p.S218S|CACNA1A_uc010xne.2_Silent_p.S218S|CACNA1A_uc010dze.2_Silent_p.S218S|CACNA1A_uc021upt.1_Silent_p.S218S NM_001127222 NP_001120694 O00555 CAC1A_HUMAN Homo sapiens calcium channel, voltage-dependent, P/Q type, alpha 1A subunit (CACNA1A), transcript variant 4, mRNA. 218 S -> L (in FHM1; dbSNP:rs121908225). cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion cytoplasm|nucleus syntaxin binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1) 42 OV - Ovarian serous cystadenocarcinoma(19;5.07e-21) Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230) CCTTCATGATCGACTTCAGGA 0.493000 29 16 0 0 0.000958276 0 0 AOX1 316 broad.mit.edu 37 2 201507454 201507454 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:201507454C>T uc002uvx.3 + 24 2878 c.2777C>T c.(2776-2778)cCt>cTt p.P926L AOX1_uc010zhf.2_Missense_Mutation_p.P482L|AOX1_uc010fsu.3_Missense_Mutation_p.P292L NM_001159 NP_001150 Q06278 ADO_HUMAN Homo sapiens aldehyde oxidase 1 (AOX1), mRNA. 926 inflammatory response|reactive oxygen species metabolic process cytoplasm 2 iron, 2 sulfur cluster binding|NAD binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|xanthine dehydrogenase activity breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 81 Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909) TTTGGCTTTCCTCAGGCAGCG 0.483000 46 62 0 0 0.00361006 0 0 COL6A5 256076 broad.mit.edu 37 3 130188260 130188260 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr3:130188260G>A uc010htj.1 + 37 7906 c.7412G>A c.(7411-7413)cGa>cAa p.R2471Q COL6A5_uc010hti.1_Non-coding_Transcript|COL6A5_uc021xdz.1_Missense_Mutation_p.R510Q|COL6A5_uc010htk.1_Missense_Mutation_p.R510Q NM_153264 NP_694996 A8TX70 CO6A5_HUMAN Homo sapiens collagen, type VI, alpha 5 (COL6A5), mRNA. 2471 Nonhelical region.|VWFA 10. axon guidance|cell adhesion collagen endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1) 44 CAACTTGGCCGAACCCACAAG 0.393000 21 31 0 0 0.0024448 0 0 STON2 85439 broad.mit.edu 37 14 81743428 81743428 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr14:81743428G>A uc010tvu.2 - 3 2425 c.2227C>T c.(2227-2229)Cgc>Tgc p.R743C STON2_uc001xvk.1_Missense_Mutation_p.R743C|STON2_uc010tvt.2_Missense_Mutation_p.R540C NM_033104 NP_149095 Q8WXE9 STON2_HUMAN Homo sapiens stonin 2 (STON2), transcript variant 1, mRNA. 743 MHD. endocytosis|intracellular protein transport|regulation of endocytosis clathrin adaptor complex|nucleolus protein binding p.R743H(1) breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|pancreas(2)|prostate(1)|skin(5) 34 BRCA - Breast invasive adenocarcinoma(234;0.0348) CTTTCCCTGCGGAAGTTTTTC 0.537000 79 27 0 0 0.00106085 0 0 SLC6A12 6539 broad.mit.edu 37 12 305415 305416 + Missense_Mutation DNP CC TT TT TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr12:305415_305416CC>TT uc001qhz.3 - 12 1864_1865 c.1200_1201GG>AA c.(1198-1203)gtggag>gtAAag p.E401K SLC6A12_uc001qhy.3_Intron|SLC6A12_uc001qia.3_Missense_Mutation_p.E401K|SLC6A12_uc001qib.3_Missense_Mutation_p.E401K|SLC6A12_uc009zdh.2_Missense_Mutation_p.E401K NM_003044 NP_003035 P48065 S6A12_HUMAN Homo sapiens solute carrier family 6 (neurotransmitter transporter, betaine/GABA), member 12 (SLC6A12), transcript variant 1, mRNA. 401 cellular nitrogen compound metabolic process|neurotransmitter secretion integral to plasma membrane gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 26 all_cancers(10;0.0172)|all_epithelial(11;0.0283)|all_lung(10;0.0392)|Lung NSC(10;0.0567)|Ovarian(42;0.142) OV - Ovarian serous cystadenocarcinoma(31;0.00227) ACCAGGCACTCCACACAGACAA 0.639000 6 18 0 0 6.4e-05 0 0 LRP1 4035 broad.mit.edu 37 12 57574159 57574160 + Missense_Mutation DNP CG AT AT TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr12:57574159_57574160CG>AT uc001snd.3 + 31 5749_5750 c.5283_5284CG>AT c.(5281-5286)tccggg>tcATgg p.G1762W NM_002332 NP_002323 Q07954 LRP1_HUMAN Homo sapiens low density lipoprotein receptor-related protein 1 (LRP1), mRNA. 1762 aorta morphogenesis|apoptotic cell clearance|negative regulation of Wnt receptor signaling pathway|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity coated pit|integral to plasma membrane|nucleus apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 184 BRCA - Breast invasive adenocarcinoma(357;0.0103) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031) GGATCAGCTCCGGGAACCATAC 0.619000 176 10 0 0 6.4e-05 0 0 NDE1 54820 broad.mit.edu 37 16 15790720 15790720 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr16:15790720C>T uc002ddt.1 + 6 993 c.950C>T c.(949-951)tCa>tTa p.S317L NDE1_uc010uzy.2_Intron|NDE1_uc002dds.3_Intron NM_017668 NP_060138 Q9NXR1 NDE1_HUMAN Homo sapiens nudE nuclear distribution gene E homolog 1 (A. nidulans) (NDE1), transcript variant 2, mRNA. 320 G2/M transition of mitotic cell cycle|cell differentiation|cell division|centrosome duplication|establishment of chromosome localization|establishment of mitotic spindle orientation|mitotic prometaphase|nervous system development cleavage furrow|condensed chromosome kinetochore|cytosol|microtubule|spindle pole centrosome microtubule binding endometrium(3)|kidney(3)|large_intestine(1)|lung(5)|ovary(1) 13 GATAAGGGGTCAGTACCTTCT 0.582000 18 10 0 0 0.000442599 0 0 RAPGEF3 10411 broad.mit.edu 37 12 48133942 48133942 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr12:48133942G>A uc001rpz.4 - 22 2905 c.2355C>T c.(2353-2355)tcC>tcT p.S785S AL831948_uc001rpv.3_Non-coding_Transcript|RAPGEF3_uc001rpw.3_Silent_p.S78S|RAPGEF3_uc001rpx.3_Silent_p.S200S|RAPGEF3_uc010sln.2_Silent_p.S240S|RAPGEF3_uc001rpy.3_Non-coding_Transcript|RAPGEF3_uc009zkp.3_Silent_p.S743S|RAPGEF3_uc009zkq.3_Silent_p.S743S NM_001098531 NP_006096 A8K2G5 A8K2G5_HUMAN Homo sapiens Rap guanine nucleotide exchange factor (GEF) 3 (RAPGEF3), transcript variant 1, mRNA. 743 regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cAMP-dependent protein kinase complex cAMP-dependent protein kinase regulator activity|guanyl-nucleotide exchange factor activity endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(7) 25 Lung SC(27;0.192) GBM - Glioblastoma multiforme(48;0.0375) TCTCGAGGGCGGAGTACAGCT 0.667000 9 20 0 0 0.00395357 0 0 LOC440040 440040 broad.mit.edu 37 11 49597918 49597918 + Missense_Mutation SNP T A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr11:49597918T>A uc010rhy.2 + 1 509 c.31T>A c.(31-33)Ttt>Att p.F11I LOC440040_uc009ymb.3_Missense_Mutation_p.F11I Homo sapiens glutamate receptor, metabotropic 5 pseudogene (LOC440040), non-coding RNA. TGGAGCTCTCTTTTCTGTTCA 0.512000 5 14 0 0 0.00244969 0 0 HS1BP3 64342 broad.mit.edu 37 2 20840835 20840835 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:20840835C>T uc002rdw.1 - 2 345 c.304G>A c.(304-306)Gag>Aag p.E102K HS1BP3_uc002rdx.3_Missense_Mutation_p.E102K|HS1BP3_uc002rdy.3_Missense_Mutation_p.E102K NM_022460 NP_071905 Q53T59 H1BP3_HUMAN Homo sapiens HCLS1 binding protein 3 (HS1BP3), mRNA. 102 PX. cell communication phosphatidylinositol binding endometrium(4)|large_intestine(1)|lung(7)|ovary(1)|skin(2) 15 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) ATGTCAGACTCCCCAACAAAC 0.547000 101 48 0 0 0.00361006 0 0 EPHB6 2051 broad.mit.edu 37 7 142566359 142566359 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr7:142566359C>T uc011kst.2 + 14 2935 c.2148C>T c.(2146-2148)ttC>ttT p.F716F EPHB6_uc011ksu.2_Silent_p.F716F|EPHB6_uc003wbs.3_Silent_p.F424F|EPHB6_uc003wbt.3_Silent_p.F190F|EPHB6_uc003wbu.3_Silent_p.F424F|EPHB6_uc003wbv.3_Silent_p.F100F NM_004445 NP_004436 O15197 EPHB6_HUMAN Homo sapiens EPH receptor B6 (EPHB6), mRNA. 716 Protein kinase. extracellular region|integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1) 87 Melanoma(164;0.059) AGATGACCTTCCTGGGCCGGG 0.697000 25 7 0 0 0.00198382 0 0 ACE 1636 broad.mit.edu 37 17 61557834 61557834 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr17:61557834C>T uc002jau.2 + 4 826 c.792C>T c.(790-792)cgC>cgT p.R264R ACE_uc010wpi.2_Silent_p.R264R|ACE_uc010ddu.2_Silent_p.R81R NM_000789 NP_000780 P12821 ACE_HUMAN Homo sapiens angiotensin I converting enzyme (peptidyl-dipeptidase A) 1 (ACE), transcript variant 1, mRNA. 264 Peptidase M2 1. 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) CACTGCATCGCCGATACGGAG 0.597000 39 47 0 0 0.00361006 0 0 C11orf9 745 broad.mit.edu 37 11 61543821 61543821 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr11:61543821G>A uc001nsc.1 + 9 1512 c.1416G>A c.(1414-1416)acG>acA p.T472T C11orf9_uc001nse.1_Silent_p.T463T|C11orf9_uc010rll.1_5'Flank NM_001127392 NP_001120864 Q9Y2G1 MRF_HUMAN Homo sapiens chromosome 11 open reading frame 9 (C11orf9), transcript variant 2, mRNA. 472 central nervous system myelination|positive regulation of myelination|positive regulation of transcription, DNA-dependent integral to membrane|nucleus DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|prostate(1) 29 AGCAGGTCACGAAGGTGACTG 0.657000 OREG0021012 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 6 7 0 0 0.000442599 0 0 ZNF418 147686 broad.mit.edu 37 19 58437585 58437585 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:58437585G>A uc002qqs.1 - 3 2256 c.1964C>T c.(1963-1965)tCa>tTa p.S655L ZNF418_uc010yhn.1_Non-coding_Transcript|ZNF418_uc010yho.1_Missense_Mutation_p.S570L NM_133460 NP_597717 Q8TF45 ZN418_HUMAN Homo sapiens zinc finger protein 418 (ZNF418), mRNA. 655 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 31 Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0158) TCGATGAAATGATTTTCCACA 0.413000 113 21 0 0 0.00152264 0 0 EHF 26298 broad.mit.edu 37 11 34664228 34664228 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr11:34664228C>T uc021qfu.1 + 1 243 c.117C>T c.(115-117)ctC>ctT p.L39L EHF_uc001mvr.2_Silent_p.L17L|EHF_uc009yke.2_Silent_p.L17L|EHF_uc009ykf.2_Silent_p.L20L NM_001206616 NP_001193545 Q9NZC4 EHF_HUMAN Homo sapiens ets homologous factor (EHF), transcript variant 1, mRNA. 17 PNT. cell proliferation|epithelial cell differentiation|multicellular organismal development|positive regulation of transcription, DNA-dependent protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.F38fs*51(1) NFIA/EHF(2) autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|lung(8)|upper_aerodigestive_tract(1) 17 all_hematologic(20;0.117) Epithelial(1;0.055)|all cancers(1;0.137)|STAD - Stomach adenocarcinoma(6;0.235) GCAACAACCTCCTTCACCAGC 0.537000 26 13 0 0 0.00244969 0 0 ABCA2 20 broad.mit.edu 37 9 139905466 139905466 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr9:139905466G>A uc004ckm.1 - 38 6152 c.6102C>T c.(6100-6102)ctC>ctT p.L2034L ABCA2_uc022bpy.1_Silent_p.L1935L|ABCA2_uc022bpz.1_Silent_p.L2005L|ABCA2_uc011mem.1_Silent_p.L2004L|ABCA2_uc004ckl.1_Silent_p.L1935L|ABCA2_uc022bqa.1_5'Flank NM_212533 NP_997698 Q9BZC7 ABCA2_HUMAN Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 2 (ABCA2), transcript variant 2, mRNA. 2004 cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center ATP binding|ATPase activity, coupled to transmembrane movement of substances central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1) 41 all_cancers(76;0.16) Myeloproliferative disorder(178;0.0511) STAD - Stomach adenocarcinoma(284;0.123) OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048) TGATGGTCAGGAGGAAGCCCA 0.677000 3 13 0 0 0.00185496 0 0 TMC3 342125 broad.mit.edu 37 15 81637258 81637258 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr15:81637258G>A uc021ssk.1 - 12 1367 c.1367C>T c.(1366-1368)tCt>tTt p.S456F TMC3_uc021ssj.1_Missense_Mutation_p.S456F|TMC3_uc010blr.1_Non-coding_Transcript|TMC3_uc002bgp.3_Missense_Mutation_p.S456F NM_001080532 NP_001074001 Q7Z5M5 TMC3_HUMAN Homo sapiens transmembrane channel-like 3 (TMC3), mRNA. 456 integral to membrane autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 34 TCCAGGCCGAGATGTGGACCA 0.483000 14 13 0 0 0.00316338 0 0 TRIM71 131405 broad.mit.edu 37 3 32932199 32932199 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr3:32932199G>A uc003cff.3 + 3 1566 c.1503G>A c.(1501-1503)aaG>aaA p.K501K NM_001039111 NP_001034200 Q2Q1W2 LIN41_HUMAN Homo sapiens tripartite motif containing 71 (TRIM71), mRNA. 501 multicellular organismal development cytoplasm zinc ion binding breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 TCCAGGGTAAGGTGGCCTCCT 0.602000 17 14 0 0 0.00316338 0 0 CDH26 60437 broad.mit.edu 37 20 58567442 58567442 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr20:58567442G>A uc002ybe.3 + 9 1604 c.1293G>A c.(1291-1293)ctG>ctA p.L431L CDH26_uc002ybf.1_Silent_p.L11L|CDH26_uc010zzy.2_Non-coding_Transcript NM_177980 NP_817089 Q8IXH8 CAD26_HUMAN Homo sapiens cadherin 26 (CDH26), transcript variant a, mRNA. 431 Cadherin 4. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1) 44 all_lung(29;0.00963) BRCA - Breast invasive adenocarcinoma(7;5.58e-09) GATATGAACTGGTTCATGACC 0.363000 39 18 0 0 0.000566183 0 0 FAIM 55179 broad.mit.edu 37 3 138341065 138341065 + Silent SNP G T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr3:138341065G>T uc003esr.3 + 2 407 c.147G>T c.(145-147)gtG>gtT p.V49V FAIM_uc003eso.1_Silent_p.V83V|FAIM_uc003esq.3_Silent_p.V71V|FAIM_uc003esp.3_Silent_p.V83V|FAIM_uc003ess.3_Silent_p.V49V NM_001033032 NP_060617 Q9NVQ4 FAIM1_HUMAN Homo sapiens Fas apoptotic inhibitory molecule (FAIM), transcript variant 3, mRNA. 49 apoptosis cytoplasm kidney(1)|upper_aerodigestive_tract(1) 2 TCAAATTAGTGGGCAAAGAAA 0.299000 395 13 0.00244969 0.00704821 0.00244969 1 0 ATG9A 79065 broad.mit.edu 37 2 220089007 220089007 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:220089007G>A uc002vke.1 - 7 1272 c.1086C>T c.(1084-1086)tcC>tcT p.S362S ATG9A_uc002vkd.1_Non-coding_Transcript|ATG9A_uc002vkf.1_Silent_p.S362S NM_001077198 NP_076990 Q7Z3C6 ATG9A_HUMAN Homo sapiens ATG9 autophagy related 9 homolog A (S. cerevisiae) (ATG9A), transcript variant 1, mRNA. 362 autophagic vacuole assembly|protein transport Golgi apparatus|autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane|late endosome membrane endometrium(2)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(1) 13 Renal(207;0.0474) Epithelial(149;1.37e-06)|all cancers(144;0.000222)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) TCATGTACTTGGAGGCGGGCT 0.577000 80 37 0 0 0.000814825 0 0 MTNR1A 4543 broad.mit.edu 37 4 187455191 187455191 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr4:187455191C>T uc003izd.1 - 1 723 c.705G>A c.(703-705)agG>agA p.R235R NM_005958 NP_005949 P48039 MTR1A_HUMAN Homo sapiens melatonin receptor 1A (MTNR1A), mRNA. 235 G-protein signaling, coupled to cyclic nucleotide second messenger|circadian rhythm|mating behavior integral to plasma membrane melatonin receptor activity breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 14 all_cancers(14;6.39e-56)|all_epithelial(14;1.48e-41)|all_lung(41;2.45e-15)|Lung NSC(41;7.26e-15)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00335)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|Renal(120;0.0183)|all_neural(102;0.202) OV - Ovarian serous cystadenocarcinoma(60;7.63e-12)|BRCA - Breast invasive adenocarcinoma(30;6.68e-07)|GBM - Glioblastoma multiforme(59;3.44e-05)|LUSC - Lung squamous cell carcinoma(40;0.000106)|STAD - Stomach adenocarcinoma(60;0.000279)|READ - Rectum adenocarcinoma(43;0.159) Melatonin(DB01065)|Ramelteon(DB00980) TGACAAAATTCCTGAAGTCCT 0.502000 14 29 0 0 0.00178596 0 0 TRPS1 7227 broad.mit.edu 37 8 116631597 116631597 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr8:116631597C>T uc003yny.3 - 2 1306 c.728G>A c.(727-729)gGt>gAt p.G243D TRPS1_uc011lhy.2_Missense_Mutation_p.G234D|TRPS1_uc003ynz.3_Missense_Mutation_p.G230D|TRPS1_uc010mcy.3_Missense_Mutation_p.G230D NM_014112 NP_054831 Q9UHF7 TRPS1_HUMAN Homo sapiens trichorhinophalangeal syndrome I (TRPS1), mRNA. 230 NLS-bearing substrate import into nucleus|negative regulation of transcription from RNA polymerase II promoter|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2) 111 all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219) Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12) GCCGTAGTAACCATATCCACA 0.468000 Langer-Giedion syndrome 138 55 0 0 0.00361006 0 0 UNC79 57578 broad.mit.edu 37 14 94152932 94152932 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr14:94152932G>A uc001ybv.1 + 41 6569 c.6486G>A c.(6484-6486)gcG>gcA p.A2162A UNC79_uc001ybs.1_Silent_p.A2140A NM_020818 NP_065869 Q9P2D8 UNC79_HUMAN Homo sapiens unc-79 homolog (C. elegans) (UNC79), mRNA. 2317 integral to membrane p.A2339A(1)|p.A2140A(1)|p.K2161N(1) breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4) 118 GGACTGCAGCGATGGAGTGTG 0.507000 34 15 0 0 0.000422831 0 0 CDH8 1006 broad.mit.edu 37 16 61854962 61854962 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr16:61854962C>T uc002eog.2 - 5 1846 c.891G>A c.(889-891)agG>agA p.R297R CDH8_uc002eoh.3_Silent_p.R66R NM_001796 NP_001787 P55286 CADH8_HUMAN Homo sapiens cadherin 8, type 2 (CDH8), mRNA. 297 Cadherin 3. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4) 112 Ovarian(137;0.0799)|Melanoma(118;0.16) UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249) TGGCCTTCACCCTTCCTATTG 0.423000 21 23 0 0 0.00278032 0 0 SLITRK6 84189 broad.mit.edu 37 13 86368978 86368978 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr13:86368978C>T uc001vll.1 - 1 2125 c.1666G>A c.(1666-1668)Gaa>Aaa p.E556K SLITRK6_uc021rla.1_Missense_Mutation_p.E556K NM_032229 NP_115605 Q9H5Y7 SLIK6_HUMAN Homo sapiens SLIT and NTRK-like family, member 6 (SLITRK6), mRNA. 556 LRRCT 2. integral to membrane p.E556K(2) breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_neural(89;0.117)|Medulloblastoma(90;0.163) GBM - Glioblastoma multiforme(99;0.0456) GCTTTCAATTCCTTTTTGTCG 0.453000 30 38 0 0 0.00148497 0 0 CUL3 8452 broad.mit.edu 37 2 225360606 225360606 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:225360606G>A uc010fwy.1 - 12 1856 c.1803C>T c.(1801-1803)tcC>tcT p.S601S CUL3_uc010zls.1_Silent_p.S529S|CUL3_uc002vny.2_Silent_p.S595S NM_003590 NP_003581 Q13618 CUL3_HUMAN Homo sapiens cullin 3 (CUL3), mRNA. 595 G1/S transition of mitotic cell cycle|cell cycle arrest|cell migration|cyclin catabolic process|cytokinesis|induction of apoptosis by intracellular signals|mitotic anaphase|negative regulation of Rho protein signal transduction|positive regulation of cell proliferation|protein ubiquitination|stress fiber assembly Cul3-RING ubiquitin ligase complex|Golgi apparatus|nucleus|polar microtubule ubiquitin protein ligase binding endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3) 46 all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138) Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902) TCTGGAAAGTGGAAACTTGCA 0.328000 47 59 0 0 0.00361006 0 0 NUP188 23511 broad.mit.edu 37 9 131745768 131745768 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr9:131745768C>T uc004bws.1 + 18 1922 c.1900C>T c.(1900-1902)Cgt>Tgt p.R634C NUP188_uc004bwu.3_5'Flank NM_015354 NP_056169 Q5SRE5 NU188_HUMAN Homo sapiens nucleoporin 188kDa (NUP188), mRNA. 634 carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction nuclear pore protein binding breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 60 GACTGATCTTCGTCACACAGG 0.478000 4 19 0 0 0.00121646 0 0 SCN1A 6323 broad.mit.edu 37 2 166848475 166848475 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:166848475G>A uc002udo.4 - 27 5537 c.5310C>T c.(5308-5310)atC>atT p.I1770I SCN1A_uc010fpk.3_Silent_p.I1742I|SCN1A_uc021vsb.1_Silent_p.I1759I NM_001202435 NP_001189364 P35498 SCN1A_HUMAN Homo sapiens sodium channel, voltage-gated, type I, alpha subunit (SCN1A), transcript variant 4, mRNA. 1770 voltage-gated sodium channel complex voltage-gated sodium channel activity NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1) 200 Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909) AGGATATGATGATGTAACTGA 0.463000 85 66 0 0 0.00361006 0 0 NOTCH1 4851 broad.mit.edu 37 9 139390979 139390979 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr9:139390979C>T uc004chz.3 - 33 7212 c.7212G>A c.(7210-7212)caG>caA p.Q2404Q NM_017617 NP_060087 P46531 NOTC1_HUMAN Homo sapiens notch 1 (NOTCH1), mRNA. 2404 Poly-Gln. Notch receptor processing|aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent Golgi lumen|cytosol|endoplasmic reticulum lumen|extracellular region|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity p.N2402_I2403>GPSLNN(1)|p.Q2404*(1) breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3) 1359 all_cancers(76;0.223) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06) GGCTTTGCTGCTGCTGGATGT 0.652000 """T, Mis, O""" TRB@ T-ALL HNSCC(8;0.001) 3 42 0 0 0.00195071 0 0 NBEAL1 65065 broad.mit.edu 37 2 203972603 203972604 + Missense_Mutation DNP GG TT TT TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:203972603_203972604GG>TT uc002uzt.3 + 12 1887_1888 c.1554_1555GG>TT c.(1552-1557)ttgggg>ttTTgg p.518_519LG>FW NM_001114132 NP_001107604 Q6ZS30 NBEL1_HUMAN Homo sapiens neurobeachin-like 1 (NBEAL1), mRNA. 518 binding p.R519S(1)|p.R519H(1) NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 37 ATGGTTCCTTGGGGAGTCAGTC 0.460000 607 13 0 0 6.4e-05 0 0 C20orf85 128602 broad.mit.edu 37 20 56735719 56735719 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr20:56735719C>T uc002xyv.3 + 3 293 c.255C>T c.(253-255)gtC>gtT p.V85V NM_178456 NP_848551 Q9H1P6 CT085_HUMAN Homo sapiens chromosome 20 open reading frame 85 (C20orf85), mRNA. 85 p.V85V(2) kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)|urinary_tract(1) 13 all_epithelial(3;5.99e-14)|Lung NSC(12;0.000152)|all_lung(29;0.000518)|Melanoma(10;0.118) BRCA - Breast invasive adenocarcinoma(13;5.53e-12)|Epithelial(14;7.42e-08)|all cancers(14;7.19e-07) CATTCCAGGTCTTTCCATCCC 0.567000 34 13 0 0 0.00185496 0 0 PPP1R3A 5506 broad.mit.edu 37 7 113558349 113558349 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr7:113558349C>T uc010ljy.1 - 0 734 c.703G>A c.(703-705)Gaa>Aaa p.E235K NM_002711 NP_002702 Q16821 PPR3A_HUMAN Homo sapiens protein phosphatase 1, regulatory subunit 3A (PPP1R3A), mRNA. 235 glycogen metabolic process integral to membrane NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2) 121 GGCTCTTGTTCTTTCTTTTGA 0.333000 170 47 0 0 0.00361006 0 0 IDE 3416 broad.mit.edu 37 10 94268591 94268591 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr10:94268591G>A uc001kia.3 - 6 1030 c.954C>T c.(952-954)ccC>ccT p.P318P NM_004969 NP_004960 P14735 IDE_HUMAN Homo sapiens insulin-degrading enzyme (IDE), transcript variant 1, mRNA. 318 beta-amyloid metabolic process|bradykinin catabolic process|interspecies interaction between organisms|sex differentiation cell surface|extracellular space|soluble fraction ATP binding|metalloendopeptidase activity|protein homodimerization activity|signal transducer activity|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|urinary_tract(2) 33 Bacitracin(DB00626)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) GGTCAGGTATGGGAAATGTCA 0.368000 63 299 0 0 0.00361006 0 0 ZNF709 163051 broad.mit.edu 37 19 12575850 12575850 + Nonsense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:12575850G>A uc002mtv.4 - 3 1047 c.886C>T c.(886-888)Cga>Tga p.R296* ZNF709_uc002mtw.4_Nonsense_Mutation_p.R264*|ZNF709_uc002mtx.4_Nonsense_Mutation_p.R296* NM_152601 NP_689814 Q8N972 ZN709_HUMAN Homo sapiens zinc finger protein 709 (ZNF709), mRNA. 296 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(3)|upper_aerodigestive_tract(3) 6 TCATGACTTCGAAAGGATGTG 0.363000 11 17 0 0 0.000566183 0 0 C5orf25 375484 broad.mit.edu 37 5 175716958 175716958 + Missense_Mutation SNP C A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr5:175716958C>A uc003mds.4 + 3 781 c.374C>A c.(373-375)cCa>cAa p.P125Q C5orf25_uc003mdr.3_Intron|C5orf25_uc003mdt.4_Intron|C5orf25_uc011dfk.1_Missense_Mutation_p.P144Q|C5orf25_uc003mdu.1_Missense_Mutation_p.P36Q Q8NDZ2 CE025_HUMAN Homo sapiens chromosome 5 open reading frame 25 (C5orf25), mRNA. 125 all_cancers(89;0.00381)|Renal(175;0.000269)|Lung NSC(126;0.0122)|all_lung(126;0.0193) Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) Kidney(146;0.119) GTAGGTCCCCCACCCGCTACA 0.498000 47 10 1.96292e-10 5.71078e-10 0.00152264 1 0 TLR10 81793 broad.mit.edu 37 4 38776112 38776112 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr4:38776112C>T uc003gtj.3 - 3 1738 c.1100G>A c.(1099-1101)aGa>aAa p.R367K TLR10_uc021xnk.1_Missense_Mutation_p.R353K|TLR10_uc003gti.3_Missense_Mutation_p.R367K|TLR10_uc021xnl.1_Missense_Mutation_p.R367K|TLR10_uc003gtk.3_Missense_Mutation_p.R367K|TLR10_uc021xnm.1_Missense_Mutation_p.R367K NM_030956 NP_001182037 Q9BXR5 TLR10_HUMAN Homo sapiens toll-like receptor 10 (TLR10), transcript variant 1, mRNA. 367 MyD88-dependent toll-like receptor signaling pathway|inflammatory response|innate immune response integral to membrane|plasma membrane transmembrane receptor activity breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(2) 25 TTGGATAGTTCTTTTAAACAA 0.348000 51 29 0 0 0.00127121 0 0 LOC645752 645752 broad.mit.edu 37 15 78208245 78208245 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr15:78208245C>T uc010bky.2 - 14 1688 c.924G>A c.(922-924)gaG>gaA p.E308E LOC645752_uc010umq.1_5'Flank|DQ572823_uc002bcw.1_5'Flank|DQ582073_uc002bcx.1_5'Flank Homo sapiens golgi autoantigen, golgin subfamily a, 6 pseudogene (LOC645752), non-coding RNA. CATCTGCCTTCTCCTTCGGGA 0.592000 11 16 0 0 0.000958276 0 0 POLI 11201 broad.mit.edu 37 18 51820381 51820381 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr18:51820381C>T uc002lfj.4 + 9 1835 c.1767C>T c.(1765-1767)tcC>tcT p.S589S POLI_uc010xds.2_Silent_p.S510S|POLI_uc002lfk.4_Silent_p.S486S|POLI_uc010dpg.3_Silent_p.S185S NM_007195 NP_009126 Q9UNA4 POLI_HUMAN Homo sapiens polymerase (DNA directed) iota (POLI), mRNA. 589 Ser-rich. DNA repair|DNA replication nucleoplasm DNA-directed DNA polymerase activity|damaged DNA binding|metal ion binding|protein binding breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(5)|ovary(3)|urinary_tract(1) 26 Colorectal(16;0.0234)|READ - Rectum adenocarcinoma(59;0.197) ATCATTTATCCAGTAGCAAAC 0.368000 DNA polymerases (catalytic subunits) 43 23 0 0 0.00278032 0 0 DGKI 9162 broad.mit.edu 37 7 137284623 137284623 + Nonsense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr7:137284623C>T uc003vtt.3 - 10 1197 c.1196G>A c.(1195-1197)tGg>tAg p.W399* DGKI_uc003vtu.3_Nonsense_Mutation_p.W99* NM_004717 NP_004708 O75912 DGKI_HUMAN Homo sapiens diacylglycerol kinase, iota (DGKI), mRNA. 399 DAGKc. activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation nucleus|plasma membrane ATP binding|diacylglycerol kinase activity|metal ion binding breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 84 ATTCAGGTACCACATGAACAT 0.373000 60 8 0 0 0.000673444 0 0 SCN5A 6331 broad.mit.edu 37 3 38622601 38622601 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr3:38622601C>T uc021wvo.1 - 15 3101 c.3049G>A c.(3049-3051)Gag>Aag p.E1017K SCN5A_uc021wvk.1_Missense_Mutation_p.E1017K|SCN5A_uc021wvl.1_Missense_Mutation_p.E1017K|SCN5A_uc021wvm.1_Missense_Mutation_p.E1017K|SCN5A_uc021wvn.1_Missense_Mutation_p.E1017K|SCN5A_uc021wvp.1_Missense_Mutation_p.E1017K|SCN5A_uc021wvq.1_Missense_Mutation_p.E1017K|SCN5A_uc021wvr.1_Missense_Mutation_p.E1017K|SCN5A_uc021wvs.1_Missense_Mutation_p.E1017K|SCN5A_uc021wvt.1_Missense_Mutation_p.E1017K|SCN5A_uc021wvu.1_Missense_Mutation_p.E1017K|SCN5A_uc021wvv.1_Missense_Mutation_p.E1017K|SCN5A_uc021wvj.1_Missense_Mutation_p.E883K|SCN5A_uc021wvi.1_Missense_Mutation_p.E883K|SCN5A_uc021wvw.1_Missense_Mutation_p.E628K NM_198056 NP_932173 Q14524 SCN5A_HUMAN Homo sapiens sodium channel, voltage-gated, type V, alpha subunit (SCN5A), transcript variant 1, mRNA. 1017 blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction sarcolemma|voltage-gated sodium channel complex protein binding|voltage-gated sodium channel activity NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4) 107 Medulloblastoma(35;0.163) KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1) Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661) GGCACCTTCTCCGTCTCTGGG 0.697000 9 19 0 0 0.000958276 0 0 MGAM 8972 broad.mit.edu 37 7 141760157 141760157 + Nonsense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr7:141760157G>A uc003vwy.3 + 33 4160 c.4106G>A c.(4105-4107)tGg>tAg p.W1369* NM_004668 NP_004659 O43451 MGA_HUMAN Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA. 1369 Glucoamylase. polysaccharide digestion|starch catabolic process apical plasma membrane|integral to membrane carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2) 13 Melanoma(164;0.0272) Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878) TCTCTAGACTGGGACAGCCAA 0.483000 49 10 0 0 0.000978159 0 0 PTPN13 5783 broad.mit.edu 37 4 87724936 87724936 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr4:87724936G>A uc003hpz.3 + 42 7060 c.6580G>A c.(6580-6582)Ggt>Agt p.G2194S PTPN13_uc003hpy.3_Missense_Mutation_p.G2199S|PTPN13_uc003hqa.3_Missense_Mutation_p.G2175S|PTPN13_uc003hqb.3_Missense_Mutation_p.G2003S|PTPN13_uc003hqc.1_Missense_Mutation_p.G560S NM_080683 NP_542414 Q12923 PTN13_HUMAN Homo sapiens protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase) (PTPN13), transcript variant 1, mRNA. 2194 cytoplasm|cytoskeleton|plasma membrane protein binding|protein tyrosine phosphatase activity p.P2193S(1) NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2) 93 Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242) OV - Ovarian serous cystadenocarcinoma(123;0.00082) TAAATACACGGGTGCCAACTT 0.448000 58 34 0 0 0.00283554 0 0 CUX2 23316 broad.mit.edu 37 12 111652089 111652089 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr12:111652089G>A uc001tsa.2 + 1 303 c.149G>A c.(148-150)cGg>cAg p.R50Q CUX2_uc001tsb.2_Missense_Mutation_p.R105Q NM_015267 NP_056082 O14529 CUX2_HUMAN Homo sapiens cut-like homeobox 2 (CUX2), mRNA. 50 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 55 GAACTCCGCCGGGAATTTAAG 0.378000 23 55 0 0 0.00361006 0 0 TOX3 27324 broad.mit.edu 37 16 52497888 52497888 + Silent SNP G A A rs147213203 by1000genomes TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr16:52497888G>A uc002egw.2 - 2 537 c.366C>T c.(364-366)ctC>ctT p.L122L TOX3_uc010vgt.1_Silent_p.L117L NM_001080430 NP_001073899 O15405 TOX3_HUMAN Homo sapiens TOX high mobility group box family member 3 (TOX3), transcript variant 1, mRNA. 122 apoptosis|negative regulation of neuron apoptosis|positive regulation of anti-apoptosis|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus chromatin binding|estrogen response element binding|phosphoprotein binding|protein homodimerization activity p.L122V(1) NS(2)|endometrium(6)|kidney(1)|lung(8)|prostate(3)|stomach(3)|upper_aerodigestive_tract(1) 24 CTTGTTCCACGAGATTTCTTG 0.433000 53 66 0 0 0.00361006 0 0 KIAA0240 23506 broad.mit.edu 37 6 42833015 42833015 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr6:42833015C>T uc003osn.1 + 12 3222 c.3071C>T c.(3070-3072)cCc>cTc p.P1024L KIAA0240_uc011duw.1_Missense_Mutation_p.P1024L|KIAA0240_uc003osp.1_Missense_Mutation_p.P1024L NM_015349 NP_056164 Q6AI39 K0240_HUMAN Homo sapiens KIAA0240 (KIAA0240), mRNA. 1024 NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(3)|skin(3) 44 Colorectal(47;0.196) Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|all cancers(41;0.00524)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.104) GGACGGCAGCCCCAGAGTGAC 0.512000 67 38 0 0 0.00195071 0 0 DOCK3 1795 broad.mit.edu 37 3 51265502 51265502 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr3:51265502G>A uc011bds.2 + 16 1653 c.1630G>A c.(1630-1632)Gag>Aag p.E544K NM_004947 NP_004938 Q8IZD9 DOCK3_HUMAN Homo sapiens dedicator of cytokinesis 3 (DOCK3), mRNA. 544 DHR-1. cytoplasm GTP binding|GTPase binding|SH3 domain binding|guanyl-nucleotide exchange factor activity breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1) 45 BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518) TGATATTCACGAGCTTTATGT 0.478000 0 32 0 0 0.00327116 0 0 SF3B3 23450 broad.mit.edu 37 16 70588473 70588473 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr16:70588473C>T uc002ezf.3 + 11 1738 c.1527C>T c.(1525-1527)tcC>tcT p.S509S NM_012426 NP_036558 Q15393 SF3B3_HUMAN Homo sapiens splicing factor 3b, subunit 3, 130kDa (SF3B3), mRNA. 509 protein complex assembly U12-type spliceosomal complex|catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex nucleic acid binding|protein binding breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 53 Ovarian(137;0.0694) TGTCCTGCTCCTTATTAGGAG 0.512000 21 29 0 0 0.00209593 0 0 CDH18 1016 broad.mit.edu 37 5 19571815 19571815 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr5:19571815C>T uc003jgd.3 - 7 1660 c.1126G>A c.(1126-1128)Gat>Aat p.D376N CDH18_uc011cnm.2_Missense_Mutation_p.D376N|CDH18_uc003jgc.3_Missense_Mutation_p.D376N|CDH18_uc021xwu.1_Missense_Mutation_p.D376N NM_004934 NP_004925 Q13634 CAD18_HUMAN Homo sapiens cadherin 18, type 2 (CDH18), transcript variant 1, mRNA. 376 Cadherin 3. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1) 138 Lung NSC(1;0.00734)|all_lung(1;0.0197) TCATCTACATCCCCAACAATG 0.418000 0 33 0 0 0.00327116 0 0 TRIOBP 11078 broad.mit.edu 37 22 38130867 38130867 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr22:38130867G>A uc003atr.3 + 8 4795 c.4524G>A c.(4522-4524)aaG>aaA p.K1508K TRIOBP_uc003atu.3_Silent_p.K1336K NM_001039141 NP_001034230 Q9H2D6 TARA_HUMAN Homo sapiens TRIO and F-actin binding protein (TRIOBP), transcript variant 6, mRNA. 1508 actin modification|barbed-end actin filament capping actin cytoskeleton|cytoplasm|nucleus GTP-Rho binding|actin binding|myosin II binding|protein binding|ubiquitin protein ligase binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 12 Melanoma(58;0.0574) AACTAGGAAAGAGAAGCCCAC 0.647000 24 35 0 0 0.00375469 0 0 TGM6 343641 broad.mit.edu 37 20 2380989 2380989 + Silent SNP C A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr20:2380989C>A uc002wfy.1 + 6 949 c.888C>A c.(886-888)tcC>tcA p.S296S TGM6_uc010gal.1_Silent_p.S296S NM_198994 NP_945345 O95932 TGM3L_HUMAN Homo sapiens transglutaminase 6 (TGM6), transcript variant 1, mRNA. 296 cell death|peptide cross-linking acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity p.V295M(1) breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4) 52 L-Glutamine(DB00130) GGGTCGTGTCCAACTTCAACT 0.617000 60 5 8.12818e-05 0.000234961 0.00198382 1 0 DTX2 113878 broad.mit.edu 37 7 76112063 76112063 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr7:76112063C>T uc011kgk.1 + 2 586 c.234C>T c.(232-234)tgC>tgT p.C78C DTX2_uc003uff.4_Silent_p.C169C|DTX2_uc003ufg.4_Silent_p.C169C|DTX2_uc003ufh.4_Silent_p.C169C|DTX2_uc003ufj.4_Silent_p.C169C NM_020892 NP_065943 Q86UW9 DTX2_HUMAN Homo sapiens deltex homolog 2 (Drosophila) (DTX2), transcript variant 1, mRNA. 169 WWE 1. Notch signaling pathway cytoplasm|nucleus protein binding|zinc ion binding NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(1)|skin(1)|stomach(2) 27 CCAGCTTCTGCCGCAGCGTGC 0.652000 27 17 0 0 0.000422831 0 0 PCBP1 5093 broad.mit.edu 37 2 70314983 70314983 + Silent SNP T C C TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:70314983T>C uc002sgf.3 + 0 399 c.108T>C c.(106-108)gtT>gtC p.V36V PCBP1-AS1_uc002sga.3_5'Flank|PCBP1-AS1_uc002sgb.1_5'Flank|PCBP1-AS1_uc002sge.1_5'Flank NM_006196 NP_006187 Q15365 PCBP1_HUMAN Homo sapiens poly(rC) binding protein 1 (PCBP1), mRNA. 36 KH 1. nuclear mRNA splicing, via spliceosome cytoplasm|nucleoplasm|ribonucleoprotein complex RNA binding|protein binding|single-stranded DNA binding endometrium(2)|kidney(1)|large_intestine(6)|lung(2)|skin(1) 12 GGGAGTCGGTTAAGAGGATCC 0.527000 78 56 0 0 0.00361006 0 0 NEK4 6787 broad.mit.edu 37 3 52800230 52800230 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr3:52800230G>A uc003dfq.4 - 2 725 c.522C>T c.(520-522)agC>agT p.S174S NEK4_uc011bej.2_Silent_p.S85S|NEK4_uc003dfr.3_Silent_p.S174S NM_003157 NP_003148 P51957 NEK4_HUMAN Homo sapiens NIMA (never in mitosis gene a)-related kinase 4 (NEK4), transcript variant 1, mRNA. 174 Protein kinase. cell division|mitosis nucleus ATP binding|metal ion binding|protein serine/threonine kinase activity breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(10) 26 BRCA - Breast invasive adenocarcinoma(193;7.44e-05)|Kidney(197;0.000711)|KIRC - Kidney renal clear cell carcinoma(197;0.00086)|OV - Ovarian serous cystadenocarcinoma(275;0.0513) ACAATTCAGGGCTCATGTAGT 0.463000 4 22 0 0 0.00106085 0 0 ZNF323 64288 broad.mit.edu 37 6 28297142 28297142 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr6:28297142C>T uc003nlc.3 - 1 708 c.319G>A c.(319-321)Ggg>Agg p.G107R ZNF323_uc003nld.3_Missense_Mutation_p.G107R|ZNF323_uc010jra.3_Missense_Mutation_p.G107R|ZNF323_uc003nla.3_Missense_Mutation_p.G107R|ZNF323_uc003nlb.3_Intron|ZNF323_uc010jrb.3_Intron|ZNF323_uc021yrs.1_Missense_Mutation_p.G107R|ZNF323_uc021yrt.1_Intron NM_030899 NP_001230173 Q96LW9 ZN323_HUMAN Homo sapiens zinc finger protein 323 (ZNF323), transcript variant 1, mRNA. 107 SCAN box. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.G107V(1) breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|ovary(2)|prostate(2)|skin(1) 27 GCCTCCTCCCCACTCTCCGGA 0.537000 120 105 0 0 0.00361006 0 0 SP100 6672 broad.mit.edu 37 2 231314285 231314285 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:231314285C>T uc002vqt.3 + 6 737 c.596C>T c.(595-597)cCa>cTa p.P199L SP100_uc002vqs.3_Missense_Mutation_p.P199L|SP100_uc002vqu.1_Missense_Mutation_p.P199L|SP100_uc010zmb.2_Missense_Mutation_p.P199L|SP100_uc002vqq.2_Missense_Mutation_p.P199L|SP100_uc010zmc.2_Missense_Mutation_p.P174L|SP100_uc002vqv.2_Missense_Mutation_p.P164L NM_003113 NP_003104 P23497 SP100_HUMAN Homo sapiens SP100 nuclear antigen (SP100), transcript variant 2, mRNA. 199 DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|interspecies interaction between organisms|negative regulation of DNA binding|negative regulation of cellular component movement|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of viral transcription|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to cytokine stimulus|response to retinoic acid|response to type I interferon PML body|cytoplasm|nuclear periphery|nucleolus DNA binding|chromo shadow domain binding|identical protein binding|kinase binding|protein homodimerization activity|transcription coactivator activity|transcription corepressor activity|transcription factor binding breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1) 25 Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167) Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942) GGTACAACCCCACCTGAAAAT 0.473000 36 21 0 0 0.000720815 0 0 DLL4 54567 broad.mit.edu 37 15 41229658 41229658 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr15:41229658G>A uc001zng.2 + 9 2322 c.1986G>A c.(1984-1986)agG>agA p.R662R NM_019074 NP_061947 Q9NR61 DLL4_HUMAN Homo sapiens delta-like 4 (Drosophila) (DLL4), mRNA. 662 Notch receptor processing|Notch signaling pathway|blood circulation|cell communication|cell differentiation integral to membrane|plasma membrane Notch binding|calcium ion binding breast(3)|large_intestine(1) 4 all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946) GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164) GCTCCCCCAGGGACTCCATGT 0.552000 104 116 0 0 0.00361006 0 0 ZNF251 90987 broad.mit.edu 37 8 145947718 145947718 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr8:145947718G>A uc003zdv.4 - 4 1583 c.1327C>T c.(1327-1329)Cgt>Tgt p.R443C NM_138367 NP_612376 Q9BRH9 ZN251_HUMAN Homo sapiens zinc finger protein 251 (ZNF251), mRNA. 443 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding autonomic_ganglia(1)|kidney(1)|large_intestine(5)|lung(9)|stomach(1) 17 all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;7.54e-38)|all cancers(56;6.19e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11) GBM - Glioblastoma multiforme(99;0.198) GAACTCCGACGAAAGGCTTTG 0.488000 85 47 0 0 0.00285205 0 0 ANKRD20A9P 284232 broad.mit.edu 37 13 19428889 19428889 + RNA SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr13:19428889G>A uc010tcj.1 - 0 c.17221C>T Homo sapiens ankyrin repeat domain 20 family, member A9, pseudogene (ANKRD20A9P), non-coding RNA. TCCAACAAATGACTTTTTAAA 0.468000 38 13 0 0 0.00185496 0 0 IGDCC3 9543 broad.mit.edu 37 15 65622704 65622704 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr15:65622704G>A uc002aos.2 - 10 2037 c.1785C>T c.(1783-1785)ctC>ctT p.L595L IGDCC3_uc002aor.1_5'Flank NM_004884 NP_004875 Q8IVU1 IGDC3_HUMAN Homo sapiens immunoglobulin superfamily, DCC subclass, member 3 (IGDCC3), mRNA. 595 Fibronectin type-III 2. breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 30 GGTTGTAGGCGAGCAGCTTCA 0.612000 73 38 0 0 0.00195071 0 0 ADAMTS9 56999 broad.mit.edu 37 3 64636740 64636741 + Missense_Mutation DNP GG TT TT TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr3:64636740_64636741GG>TT uc003dmg.3 - 8 1447_1448 c.1415_1416CC>AA c.(1414-1416)ccc>cAA p.P472Q ADAMTS9_uc011bfo.2_Missense_Mutation_p.P444Q|ADAMTS9_uc003dmh.1_Missense_Mutation_p.P301Q|ADAMTS9_uc003dmk.1_Missense_Mutation_p.P472Q NM_182920 NP_891550 Q9P2N4 ATS9_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 9 (ADAMTS9), mRNA. 472 Peptidase M12B. glycoprotein catabolic process|multicellular organismal development|proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 100 Lung NSC(201;0.00682) BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221) ACCACATCCAGGGGTTGGTGTA 0.406000 465 12 0 0 6.4e-05 0 0 DDX41 51428 broad.mit.edu 37 5 176939793 176939793 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr5:176939793G>A uc003mho.3 - 12 1408 c.1387C>T c.(1387-1389)Cat>Tat p.H463Y DOK3_uc003mhi.4_5'Flank|DOK3_uc003mhj.4_5'Flank|DOK3_uc003mhk.3_5'Flank|DDX41_uc003mhn.3_Missense_Mutation_p.H332Y|DDX41_uc003mhp.3_Missense_Mutation_p.H332Y|DDX41_uc003mhq.1_Missense_Mutation_p.H243Y NM_016222 NP_057306 Q9UJV9 DDX41_HUMAN Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 41 (DDX41), mRNA. 463 Helicase C-terminal. apoptosis|multicellular organismal development catalytic step 2 spliceosome ATP binding|ATP-dependent helicase activity|RNA binding|protein binding|zinc ion binding all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191) TTGCCCCCATGGATGGCTACG 0.587000 57 67 0 0 0.00361006 0 0 TXNRD1 7296 broad.mit.edu 37 12 104713318 104713318 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr12:104713318C>T uc021rcx.1 + 8 966 c.944C>T c.(943-945)cCa>cTa p.P315L TXNRD1_uc021rcy.1_Missense_Mutation_p.P217L|TXNRD1_uc021rcz.1_Missense_Mutation_p.P165L|TXNRD1_uc021rda.1_Missense_Mutation_p.P165L|TXNRD1_uc021rdb.1_Missense_Mutation_p.P165L|TXNRD1_uc010swp.2_Missense_Mutation_p.P127L|TXNRD1_uc010swq.2_Missense_Mutation_p.P215L|TXNRD1_uc001tku.3_Non-coding_Transcript|TXNRD1_uc009zun.3_Missense_Mutation_p.P231L NM_001093771 Q16881 TRXR1_HUMAN Homo sapiens thioredoxin reductase 1 (TXNRD1), transcript variant 5, mRNA. 315 cell redox homeostasis|cellular lipid metabolic process|electron transport chain|nucleobase, nucleoside and nucleotide interconversion|signal transduction|transport cytosol|nucleolus NADP binding|electron carrier activity|flavin adenine dinucleotide binding|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|stomach(1)|urinary_tract(1) 16 GGTGAAAGACCACGTTACTTG 0.388000 7 8 0 0 0.000673444 0 0 ZNF585A 199704 broad.mit.edu 37 19 37660790 37660790 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:37660790G>A uc002ofo.1 - 1 254 c.23C>T c.(22-24)cCt>cTt p.P8L ZNF585A_uc002ofm.1_5'UTR|ZNF585A_uc002ofn.1_5'UTR NM_199126 NP_954577 Q6P3V2 Z585A_HUMAN Homo sapiens zinc finger protein 585A (ZNF585A), transcript variant 2, mRNA. 8 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding breast(4)|central_nervous_system(1)|endometrium(2)|large_intestine(17)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 42 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) GGATTTCTGAGGTGAGGTCCA 0.537000 12 11 0 0 0.00136819 0 0 DDX39B 7919 broad.mit.edu 37 6 31503198 31503198 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr6:31503198G>A uc003ntt.3 - 5 1339 c.681C>T c.(679-681)ttC>ttT p.F227F DDX39B_uc003ntr.3_5'Flank|DDX39B_uc003ntu.3_Silent_p.F227F|DDX39B_uc011dnn.2_Silent_p.F149F|DDX39B_uc003ntv.3_Silent_p.F227F|DDX39B_uc003ntw.2_Silent_p.F227F|DDX39B_uc003ntx.2_Silent_p.F227F|DDX39B_uc011dno.1_Silent_p.F180F|DDX39B_uc011dnp.1_Silent_p.F149F NM_004640 NP_542165 Q13838 DX39B_HUMAN Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 39B (DDX39B), transcript variant 1, mRNA. 227 Helicase ATP-binding. RNA secondary structure unwinding|intronless viral mRNA export from host nucleus|spliceosome assembly nuclear speck|spliceosomal complex|transcription export complex ATP binding|ATP-dependent RNA helicase activity|ATP-dependent protein binding|U4 snRNA binding|U6 snRNA binding|identical protein binding NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 19 AGGTAGCACTGAACATCATGA 0.493000 86 66 0 0 0.00361006 0 0 JPH3 57338 broad.mit.edu 37 16 87677874 87677874 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr16:87677874G>A uc002fkd.3 + 1 647 c.393G>A c.(391-393)caG>caA p.Q131Q JPH3_uc010vou.1_Non-coding_Transcript NM_020655 NP_065706 Q8WXH2 JPH3_HUMAN Homo sapiens junctophilin 3 (JPH3), mRNA. 131 Gly-rich. calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane protein binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 30 BRCA - Breast invasive adenocarcinoma(80;0.0287) GGACCTACCAGGGCCAGTGGG 0.667000 22 41 0 0 0.00361006 0 0 ZAN 7455 broad.mit.edu 37 7 100391482 100391482 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr7:100391482G>A uc003uwj.3 + 43 7990 c.7825G>A c.(7825-7827)Gac>Aac p.D2609N ZAN_uc003uwk.3_Intron|ZAN_uc003uwl.3_Non-coding_Transcript|ZAN_uc010lhh.3_Intron|ZAN_uc010lhi.3_Intron|ZAN_uc011kke.2_Intron NM_003386 NP_003377 Q9Y493 ZAN_HUMAN Homo sapiens zonadhesin (ZAN), transcript variant 3, mRNA. 2610 binding of sperm to zona pellucida|cell-cell adhesion integral to membrane|plasma membrane NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3) 139 Lung NSC(181;0.041)|all_lung(186;0.0581) STAD - Stomach adenocarcinoma(171;0.19) AGAGCTGTATGACACCCTGCC 0.632000 97 22 0 0 0.00395357 0 0 PDZD2 23037 broad.mit.edu 37 5 32074472 32074472 + Missense_Mutation SNP T C C TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr5:32074472T>C uc003jhl.3 + 17 3648 c.3260T>C c.(3259-3261)tTg>tCg p.L1087S PDZD2_uc003jhm.3_Missense_Mutation_p.L1087S|PDZD2_uc011cnx.1_Missense_Mutation_p.L913S NM_178140 NP_835260 O15018 PDZD2_HUMAN Homo sapiens PDZ domain containing 2 (PDZD2), mRNA. 1087 cell adhesion cell-cell junction|endoplasmic reticulum|extracellular region|nucleus NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 148 GCACCCAAATTGGAATACACA 0.587000 86 62 0 0 0.00361006 0 0 STAB2 55576 broad.mit.edu 37 12 104048373 104048373 + Missense_Mutation SNP A T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr12:104048373A>T uc001tjw.3 + 12 1634 c.1448A>T c.(1447-1449)aAg>aTg p.K483M NM_017564 NP_060034 Q8WWQ8 STAB2_HUMAN Homo sapiens stabilin 2 (STAB2), mRNA. 483 FAS1 1. angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis cytoplasm|external side of plasma membrane|integral to plasma membrane Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2) 174 GGCAAAAAGAAGGTAAAAATT 0.393000 19 32 0 0 0.00375469 0 0 SLC8A1 6546 broad.mit.edu 37 2 40656542 40656542 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:40656542C>T uc002rrx.3 - 0 903 c.879G>A c.(877-879)ggG>ggA p.G293G SLC8A1_uc002rry.3_Silent_p.G293G|SLC8A1_uc002rsb.2_Silent_p.G293G|SLC8A1_uc002rrz.3_Silent_p.G293G|SLC8A1_uc002rsa.3_Silent_p.G293G|SLC8A1_uc002rsd.4_Silent_p.G293G|SLC8A1_uc010fan.1_Silent_p.G293G|SLC8A1_uc002rsc.1_Silent_p.G293G NM_021097 NP_066920 P32418 NAC1_HUMAN Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 1 (SLC8A1), transcript variant A, mRNA. 293 cell communication|muscle contraction|platelet activation integral to plasma membrane calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding p.D292D(1) NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2) 100 Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159) TGACCACTTTCCCGTCCATTT 0.448000 84 101 0 0 0.00361006 0 0 PGBD1 84547 broad.mit.edu 37 6 28268885 28268885 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr6:28268885C>T uc003nky.3 + 6 1674 c.1254C>T c.(1252-1254)aaC>aaT p.N418N PGBD1_uc003nkz.3_Silent_p.N418N NM_032507 NP_115896 Q96JS3 PGBD1_HUMAN Homo sapiens piggyBac transposable element derived 1 (PGBD1), transcript variant 2, mRNA. 418 viral reproduction membrane|nucleus scavenger receptor activity|sequence-specific DNA binding transcription factor activity endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2) 41 AAAAGTTGAACCCAGTAGAGC 0.358000 86 40 0 0 0.00222228 0 0 SGCZ 137868 broad.mit.edu 37 8 14181688 14181688 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr8:14181688G>A uc003wwq.3 - 2 920 c.260C>T c.(259-261)aCc>aTc p.T87I SGCZ_uc010lss.3_Intron NM_139167 NP_631906 Q96LD1 SGCZ_HUMAN Homo sapiens sarcoglycan, zeta (SGCZ), mRNA. 74 cytoskeleton organization cytoplasm|cytoskeleton|integral to membrane|sarcolemma NS(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(14)|lung(15)|ovary(2)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 47 all cancers(2;0.000643)|Colorectal(111;0.00674)|COAD - Colon adenocarcinoma(73;0.0193)|GBM - Glioblastoma multiforme(2;0.026) TCCCTTCTTGGTGACTCTCAG 0.368000 20 22 0 0 0.000878237 0 0 CLK2P 1197 broad.mit.edu 37 7 23624973 23624973 + Missense_Mutation SNP C A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr7:23624973C>A uc003swk.2 - 0 1174 c.524G>T c.(523-525)cGg>cTg p.R175L Homo sapiens CDC-like kinase 2, pseudogene (CLK2P), non-coding RNA. TCGGATCATCCGGGAAGGGAT 0.478000 75 5 3.59834e-05 0.00010415 0.00116845 1 0 STXBP5L 9515 broad.mit.edu 37 3 120941855 120941855 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr3:120941855C>T uc003eec.4 + 10 1102 c.962C>T c.(961-963)cCa>cTa p.P321L STXBP5L_uc011bji.2_Missense_Mutation_p.P321L NM_014980 NP_055795 Q9Y2K9 STB5L_HUMAN Homo sapiens syntaxin binding protein 5-like (STXBP5L), mRNA. 321 exocytosis|protein transport cytoplasm|integral to membrane|plasma membrane NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 68 GBM - Glioblastoma multiforme(114;0.0694) TGTAGCGAACCATTCATAATA 0.373000 82 40 0 0 0.00195071 0 0 EDARADD 128178 broad.mit.edu 37 1 236645630 236645630 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:236645630C>T uc001hxu.1 + 5 394 c.329C>T c.(328-330)cCc>cTc p.P110L EDARADD_uc001hxv.1_Missense_Mutation_p.P100L NM_145861 NP_665860 Q8WWZ3 EDAD_HUMAN Homo sapiens EDAR-associated death domain (EDARADD), transcript variant A, mRNA. 110 cell differentiation|signal transduction cytoplasm p.P110T(1) endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|stomach(1) 12 Ovarian(103;0.0634)|Breast(184;0.247) all_cancers(173;0.0232)|Prostate(94;0.174) OV - Ovarian serous cystadenocarcinoma(106;0.00117) CTCCGGGCCCCCACCATAAGT 0.478000 20 41 0 0 0.00222228 0 0 STAT4 6775 broad.mit.edu 37 2 192012914 192012914 + Nonsense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:192012914G>A uc002usm.2 - 1 331 c.16C>T c.(16-18)Caa>Taa p.Q6* STAT4_uc010zgm.1_Non-coding_Transcript|STAT4_uc010zgn.1_Non-coding_Transcript|STAT4_uc010zgo.1_Non-coding_Transcript|STAT4_uc002usn.2_Nonsense_Mutation_p.Q6*|STAT4_uc002uso.2_Nonsense_Mutation_p.Q6*|STAT4_uc002usp.4_Nonsense_Mutation_p.Q6*|STAT4_uc010zgl.2_Nonsense_Mutation_p.Q6* NM_003151 NP_003142 Q14765 STAT4_HUMAN Homo sapiens signal transducer and activator of transcription 4 (STAT4), transcript variant 1, mRNA. 6 JAK-STAT cascade cytoplasm|nucleus calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity breast(4)|endometrium(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 42 OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204) TGTTGGACTTGATTCCACTGA 0.358000 70 38 0 0 0.00222228 0 0 HTR3A 3359 broad.mit.edu 37 11 113857256 113857256 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr11:113857256G>A uc010rxb.2 + 6 973 c.740G>A c.(739-741)cGg>cAg p.R247Q HTR3A_uc010rxa.2_Missense_Mutation_p.R247Q|HTR3A_uc009yyx.3_Non-coding_Transcript|HTR3A_uc010rxc.2_Missense_Mutation_p.R226Q NM_213621 NP_998786 P46098 5HT3A_HUMAN Homo sapiens 5-hydroxytryptamine (serotonin) receptor 3A (HTR3A), transcript variant 1, mRNA. 241 digestion|synaptic transmission cell junction|integral to plasma membrane|postsynaptic membrane serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 36 all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425) BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191) Alosetron(DB00969)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Dolasetron(DB00757)|Granisetron(DB00889)|Mirtazapine(DB00370)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Tubocurarine(DB01199) ATCCGCCGGCGGCCCCTCTTC 0.612000 8 46 0 0 0.00361006 0 0 ABCC9 10060 broad.mit.edu 37 12 22069894 22069894 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr12:22069894C>T uc001rfh.3 - 3 570 c.550G>A c.(550-552)Gag>Aag p.E184K ABCC9_uc001rfi.1_Missense_Mutation_p.E184K NM_020297 NP_064693 O60706 ABCC9_HUMAN Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 9 (ABCC9), transcript variant SUR2B, mRNA. 184 defense response to virus|potassium ion import ATP-sensitive potassium channel complex ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5) 118 Adenosine triphosphate(DB00171)|Glibenclamide(DB01016) ACATTGATCTCCACAGCCATC 0.413000 150 119 0 0 0.00361006 0 0 DUSP13 51207 broad.mit.edu 37 10 76855425 76855425 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr10:76855425C>T uc001jwr.3 - 2 365 c.302G>A c.(301-303)gGc>gAc p.G101D DUSP13_uc001jws.3_3'UTR|DUSP13_uc001jwu.3_Missense_Mutation_p.G194D|DUSP13_uc001jww.3_Missense_Mutation_p.G151D|DUSP13_uc009xrs.3_Missense_Mutation_p.G194D|DUSP13_uc001jwt.3_Missense_Mutation_p.G194D|DUSP13_uc001jwv.3_Missense_Mutation_p.G101D NM_016364 NP_057448 Q6B8I1 MDSP_HUMAN Homo sapiens dual specificity phosphatase 13 (DUSP13), transcript variant 6, mRNA. 92 Tyrosine-protein phosphatase. cytoplasm protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1) 8 all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348) CGCCTCGATGCCATAGTACTC 0.552000 12 80 0 0 0.00361006 0 0 SERPINA4 5267 broad.mit.edu 37 14 95033498 95033498 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr14:95033498C>T uc010avd.3 + 2 1226 c.952C>T c.(952-954)Cct>Tct p.P318S SERPINA4_uc001ydk.3_Missense_Mutation_p.P281S|SERPINA4_uc001ydl.3_Missense_Mutation_p.P281S NM_006215 NP_006206 P29622 KAIN_HUMAN Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4 (SERPINA4), mRNA. 281 regulation of proteolysis extracellular space serine-type endopeptidase inhibitor activity breast(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(28)|ovary(3)|skin(1)|urinary_tract(1) 46 COAD - Colon adenocarcinoma(157;0.211) TTTCATTCTCCCTAACCAAGG 0.483000 27 18 0 0 0.000958276 0 0 KLHL36 79786 broad.mit.edu 37 16 84695403 84695403 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr16:84695403C>T uc002fig.3 + 4 1656 c.1515C>T c.(1513-1515)atC>atT p.I505I KLHL36_uc010chl.3_Silent_p.I441I|AK057887_uc002fih.3_5'Flank NM_024731 NP_079007 Q8N4N3 KLH36_HUMAN Homo sapiens kelch-like 36 (Drosophila) (KLHL36), mRNA. 505 endometrium(3)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 ATGACAACATCGAGTCCATGG 0.677000 25 7 0 0 0.00307968 0 0 KIAA2018 205717 broad.mit.edu 37 3 113376574 113376574 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr3:113376574G>A uc003eam.3 - 6 4366 c.3955C>T c.(3955-3957)Cca>Tca p.P1319S KIAA2018_uc003eal.3_Missense_Mutation_p.P1263S NM_001009899 NP_001009899 Q68DE3 K2018_HUMAN Homo sapiens KIAA2018 (KIAA2018), mRNA. 1319 regulation of transcription, DNA-dependent membrane|nucleus DNA binding|calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2) 80 TCATGGCTTGGCTTTAAGAGT 0.453000 83 75 0 0 0.00361006 0 0 CAMK1D 57118 broad.mit.edu 37 10 12595225 12595226 + Missense_Mutation DNP GG TT TT TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr10:12595225_12595226GG>TT uc001ilo.3 + 1 329_330 c.94_95GG>TT c.(94-96)ggg>TTg p.G32L CAMK1D_uc001iln.3_Missense_Mutation_p.G32L NM_153498 NP_705718 Q8IU85 KCC1D_HUMAN Homo sapiens calcium/calmodulin-dependent protein kinase ID (CAMK1D), transcript variant 2, mRNA. 32 Protein kinase. calcium- and calmodulin-dependent protein kinase complex|cytoplasm|nucleus ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1) 16 GBM - Glioblastoma multiforme(1;3.16e-05) TGTTCACAGCGGGGCCTTTTCC 0.465000 274 9 0 0 6.4e-05 0 0 ZNF317 57693 broad.mit.edu 37 19 9271094 9271094 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:9271094C>T uc002mku.3 + 6 1078 c.773C>T c.(772-774)gCc>gTc p.A258V ZNF317_uc002mkv.3_Missense_Mutation_p.A117V|ZNF317_uc002mkw.3_Missense_Mutation_p.A226V|ZNF317_uc002mkx.3_Missense_Mutation_p.A173V|ZNF317_uc002mky.3_Missense_Mutation_p.A141V NM_020933 NP_065984 Q96PQ6 ZN317_HUMAN Homo sapiens zinc finger protein 317 (ZNF317), transcript variant 1, mRNA. 258 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3) 27 TGCGGGAAAGCCTTCAACGAC 0.572000 52 17 0 0 0.000422831 0 0 PKDREJ 10343 broad.mit.edu 37 22 46653000 46653000 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr22:46653000C>T uc003bhh.3 - 0 6220 c.6220G>A c.(6220-6222)Gat>Aat p.D2074N NM_006071 NP_006062 Q9NTG1 PKDRE_HUMAN Homo sapiens polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin) (PKDREJ), mRNA. 2074 acrosome reaction|neuropeptide signaling pathway integral to membrane calcium ion binding|ion channel activity NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2) 73 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.00459) AGGCGCACATCGTAGAAGAAT 0.463000 29 20 0 0 0.00188189 0 0 P2RX7 5027 broad.mit.edu 37 12 121622587 121622587 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr12:121622587C>T uc001tzm.3 + 12 1922 c.1770C>T c.(1768-1770)ggC>ggT p.G590G P2RX7_uc001tzn.3_Silent_p.G500G|P2RX7_uc001tzo.3_Non-coding_Transcript|P2RX7_uc001tzp.3_Silent_p.G301G|P2RX7_uc001tzq.3_Silent_p.G420G NM_002562 NP_002553 A8K2Z0 A8K2Z0_HUMAN Homo sapiens purinergic receptor P2X, ligand-gated ion channel, 7 (P2RX7), transcript variant 1, mRNA. 590 integral to membrane ATP binding|ion channel activity|receptor activity NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(9)|skin(1)|stomach(1) 19 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) AGTACAGTGGCTTCAAGAGTC 0.597000 56 16 0 0 0.00316338 0 0 SYNJ1 8867 broad.mit.edu 37 21 34018874 34018874 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr21:34018874G>A uc002yqh.2 - 23 3193 c.3193C>T c.(3193-3195)Ctt>Ttt p.L1065F SYNJ1_uc011ads.1_Missense_Mutation_p.L1021F|SYNJ1_uc002yqf.2_Missense_Mutation_p.L1026F|SYNJ1_uc002yqg.2_Missense_Mutation_p.L1021F|SYNJ1_uc002yqi.2_Missense_Mutation_p.L1065F NM_003895 NP_003886 O43426 SYNJ1_HUMAN Homo sapiens synaptojanin 1 (SYNJ1), transcript variant 1, mRNA. 1026 Pro-rich. RNA binding|inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 57 TGCTGAGGAAGAAGTTCCTCC 0.468000 49 30 0 0 0.001512 0 0 SLC25A41 284427 broad.mit.edu 37 19 6433579 6433579 + Nonsense_Mutation SNP C T T rs150906124 by1000genomes TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:6433579C>T uc010dus.3 - 0 212 c.126G>A c.(124-126)tgG>tgA p.W42* SLC25A41_uc010dut.3_5'UTR NM_173637 NP_775908 Q8N5S1 S2541_HUMAN Homo sapiens solute carrier family 25, member 41 (SLC25A41), mRNA. 42 Pro-rich. transmembrane transport integral to membrane|mitochondrial inner membrane binding large_intestine(1)|lung(3)|stomach(1)|upper_aerodigestive_tract(1) 6 AGCCAGGGTTCCAggatgggg 0.547000 38 19 0 0 0.00074312 0 0 PDE6B 5158 broad.mit.edu 37 4 619505 619505 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr4:619505G>A uc003gap.3 + 0 143 c.90G>A c.(88-90)gaG>gaA p.E30E PDE6B_uc003gao.4_Silent_p.E30E NM_000283 NP_001138764 P35913 PDE6B_HUMAN Homo sapiens phosphodiesterase 6B, cGMP-specific, rod, beta (PDE6B), transcript variant 1, mRNA. 30 GMP metabolic process|cytosolic calcium ion homeostasis|phototransduction, visible light|platelet activation|visual perception cytosol|membrane 3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1) 30 TGAGCCCTGAGAATGTGGCCG 0.662000 21 22 0 0 0.00278032 0 0 RNF17 56163 broad.mit.edu 37 13 25444865 25444865 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr13:25444865G>A uc001upr.3 + 31 4476 c.4435G>A c.(4435-4437)Gat>Aat p.D1479N RNF17_uc010tde.2_Missense_Mutation_p.D1475N|RNF17_uc010aab.3_Non-coding_Transcript|RNF17_uc001ups.3_Missense_Mutation_p.D1418N|RNF17_uc010aac.3_Missense_Mutation_p.D671N|RNF17_uc010aad.3_Missense_Mutation_p.D489N NM_031277 NP_112567 Q9BXT8 RNF17_HUMAN Homo sapiens ring finger protein 17 (RNF17), transcript variant 1, mRNA. 1479 Tudor 4. 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) TCCTCTGACGGATTTTAGAAC 0.418000 13 8 0 0 0.00307968 0 0 EPHA6 285220 broad.mit.edu 37 3 96706808 96706808 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr3:96706808G>A uc010how.1 + 2 1128 c.1085G>A c.(1084-1086)gGa>gAa p.G362E EPHA6_uc003drp.1_Missense_Mutation_p.G362E NM_001080448 NP_001073917 Q9UF33 EPHA6_HUMAN Homo sapiens EPH receptor A6 (EPHA6), transcript variant 1, mRNA. 267 Fibronectin type-III 1. integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2) 101 TGCAGTACAGGATATGAAGAA 0.348000 53 31 0 0 0.001512 0 0 DCN 1634 broad.mit.edu 37 12 91539904 91539904 + Nonsense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr12:91539904C>T uc001tbt.3 - 7 1265 c.1011G>A c.(1009-1011)tgG>tgA p.W337* DCN_uc001tbo.3_Nonsense_Mutation_p.W228*|DCN_uc001tbp.3_Nonsense_Mutation_p.W190*|DCN_uc001tbq.3_Nonsense_Mutation_p.W150*|DCN_uc001tbr.3_3'UTR|DCN_uc001tbu.3_Nonsense_Mutation_p.W337* NM_133503 NP_598010 P07585 PGS2_HUMAN Homo sapiens decorin (DCN), transcript variant A2, mRNA. 337 organ morphogenesis extracellular space p.Y336F(1) central_nervous_system(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|skin(1) 20 GCTGTATCTCCCAGTACTGGA 0.463000 59 28 0 0 0.0024448 0 0 ABCC6 368 broad.mit.edu 37 16 16284205 16284205 + Missense_Mutation SNP T A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr16:16284205T>A uc002den.4 - 11 1488 c.1451A>T c.(1450-1452)aAg>aTg p.K484M ABCC6_uc010bvo.3_Non-coding_Transcript|ABCC6_uc010uzz.1_Missense_Mutation_p.K496M NM_001171 NP_001162 O95255 MRP6_HUMAN Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 6 (ABCC6), transcript variant 1, mRNA. 484 ABC transmembrane type-1 1. response to drug|visual perception integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1) 43 UCEC - Uterine corpus endometrioid carcinoma (3;0.123) CCGTGAGTCCTTCTGCCTCAT 0.562000 43 17 0 0 0.00121646 0 0 SHROOM1 134549 broad.mit.edu 37 5 132161667 132161667 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr5:132161667G>A uc003kxx.3 - 3 971 c.166C>T c.(166-168)Cct>Tct p.P56S SHROOM1_uc003kxy.2_Missense_Mutation_p.P56S NM_001172700 NP_001166171 Q2M3G4 SHRM1_HUMAN Homo sapiens shroom family member 1 (SHROOM1), transcript variant 1, mRNA. 56 actin filament bundle assembly|cell morphogenesis cytoplasm|microtubule actin filament binding endometrium(1)|kidney(4)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 17 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) TCTAGGTAAGGAAGGAGGTCT 0.731000 5 4 0 0 0.00024832 0 0 FAT4 79633 broad.mit.edu 37 4 126239462 126239462 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr4:126239462C>T uc003ifj.4 + 0 1896 c.1896C>T c.(1894-1896)ttC>ttT p.F632F NM_024582 NP_078858 Q6V0I7 FAT4_HUMAN Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA. 632 Cadherin 6. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 GGAGGTCCTTCCGTCTGGATC 0.552000 25 15 0 0 0.00316338 0 0 APOB 338 broad.mit.edu 37 2 21233797 21233797 + Nonsense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:21233797C>T uc002red.3 - 25 6071 c.5943G>A c.(5941-5943)tgG>tgA p.W1981* NM_000384 NP_000375 P04114 APOB_HUMAN Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA. 1981 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) TCTTGAGTTTCCAGGTGCCTG 0.468000 241 386 0 0 0.00361006 0 0 E2F7 144455 broad.mit.edu 37 12 77423987 77423987 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr12:77423987G>A uc001sym.4 - 9 1744 c.1508C>T c.(1507-1509)tCt>tTt p.S503F E2F7_uc009zse.3_5'UTR NM_203394 NP_976328 Q96AV8 E2F7_HUMAN Homo sapiens E2F transcription factor 7 (E2F7), mRNA. 503 cell cycle transcription factor complex DNA binding|identical protein binding central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(15)|lung(14)|ovary(3)|upper_aerodigestive_tract(2) 42 CTGAGCAACAGAAAATACTGG 0.522000 77 53 0 0 0.00361006 0 0 ZFHX4 79776 broad.mit.edu 37 8 77764907 77764907 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr8:77764907G>A uc003yau.2 + 9 6137 c.5750G>A c.(5749-5751)gGt>gAt p.G1917D ZFHX4_uc003yaw.1_Missense_Mutation_p.G1872D NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA. 1872 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6) 432 BRCA - Breast invasive adenocarcinoma(89;0.0895) GAAAACTTTGGTTTTGAACTG 0.448000 HNSCC(33;0.089) 16 15 0 0 0.00244969 0 0 INTS7 25896 broad.mit.edu 37 1 212115247 212115247 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:212115247G>A uc001hiw.2 - 19 3031 c.2808C>T c.(2806-2808)tcC>tcT p.S936S INTS7_uc001hix.2_Silent_p.S812S|INTS7_uc009xdb.2_Silent_p.S916S|INTS7_uc001hiy.2_Silent_p.S922S|INTS7_uc010pta.2_Silent_p.S887S NM_015434 NP_056249 Q9NVH2 INT7_HUMAN Homo sapiens integrator complex subunit 7 (INTS7), transcript variant 1, mRNA. 936 snRNA processing integrator complex protein binding NS(1)|breast(1)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 20 OV - Ovarian serous cystadenocarcinoma(81;0.00584)|all cancers(67;0.0318)|Epithelial(68;0.0852) GAATTTGCTGGGAATAAGGGT 0.453000 38 75 0 0 0.00361006 0 0 KDM3B 51780 broad.mit.edu 37 5 137756620 137756620 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr5:137756620C>T uc003lcy.1 + 14 4141 c.3941C>T c.(3940-3942)cCc>cTc p.P1314L KDM3B_uc010jew.1_Missense_Mutation_p.P970L|KDM3B_uc011cys.1_Missense_Mutation_p.P346L NM_016604 NP_057688 Q7LBC6 KDM3B_HUMAN Homo sapiens lysine (K)-specific demethylase 3B (KDM3B), mRNA. 1314 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 65 ACAGGCATACCCTTTCCCCCG 0.512000 20 40 0 0 0.00361006 0 0 ZBBX 79740 broad.mit.edu 37 3 167000104 167000104 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr3:167000104G>A uc011bpc.2 - 19 2513 c.2176C>T c.(2176-2178)Ctt>Ttt p.L726F ZBBX_uc003feq.3_Missense_Mutation_p.L658F|ZBBX_uc003fep.3_Missense_Mutation_p.L687F NM_001199201 NP_001186130 A8MT70 ZBBX_HUMAN Homo sapiens zinc finger, B-box domain containing (ZBBX), transcript variant 1, mRNA. 687 intracellular zinc ion binding NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1) 70 TCTAAGGAAAGCTCATTCTGG 0.353000 42 38 0 0 0.00375469 0 0 UNC5A 90249 broad.mit.edu 37 5 176306743 176306743 + Silent SNP C T T rs142194384 TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr5:176306743C>T uc003mey.3 + 14 2577 c.2385C>T c.(2383-2385)tcC>tcT p.S795S NM_133369 NP_588610 Q6ZN44 UNC5A_HUMAN Homo sapiens unc-5 homolog A (C. elegans) (UNC5A), mRNA. 795 Death. apoptosis|axon guidance|regulation of apoptosis integral to membrane|plasma membrane endometrium(4)|kidney(3)|large_intestine(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2) 34 all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115) Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) TCTTTGCCTCCAAGCCCAGCC 0.701000 35 36 0 0 0.00148497 0 0 VSIG1 340547 broad.mit.edu 37 X 107310195 107310195 + Silent SNP A G G TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chrX:107310195A>G uc011msk.2 + 3 512 c.351A>G c.(349-351)gtA>gtG p.V117V VSIG1_uc004eno.3_Silent_p.V81V NM_001170553 NP_001164024 Q86XK7 VSIG1_HUMAN Homo sapiens V-set and immunoglobulin domain containing 1 (VSIG1), transcript variant 1, mRNA. 81 Ig-like V-type 1. integral to membrane breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1) 17 GACAAGCTGTAGCCATCGGGC 0.428000 2 22 0 0 0.00278032 0 0 RRP36 88745 broad.mit.edu 37 6 42992810 42992810 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr6:42992810G>A uc003otp.1 + 1 226 c.218G>A c.(217-219)aGt>aAt p.S73N NM_033112 NP_149103 Q96EU6 RRP36_HUMAN Homo sapiens ribosomal RNA processing 36 homolog (S. cerevisiae) (RRP36), mRNA. 73 rRNA processing|ribosomal small subunit biogenesis nucleolus NS(1)|breast(1)|central_nervous_system(1)|large_intestine(5)|lung(1)|ovary(1)|prostate(1) 11 GCTGGAAATAGTCCTAAGAAA 0.453000 29 36 0 0 0.00375469 0 0 SPAG17 200162 broad.mit.edu 37 1 118598527 118598527 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:118598527C>T uc001ehk.2 - 18 2619 c.2551G>A c.(2551-2553)Gaa>Aaa p.E851K SPAG17_uc021oss.1_Intron NM_206996 NP_996879 Q6Q759 SPG17_HUMAN Homo sapiens sperm associated antigen 17 (SPAG17), mRNA. 851 cilium|flagellar axoneme|microtubule NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1) 123 Esophageal squamous(2;0.0106) all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01) Lung(183;0.0858) GCAACAAGTTCCAAATAATTC 0.318000 30 69 0 0 0.00361006 0 0 HEATR8 374977 broad.mit.edu 37 1 55166006 55166006 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:55166006G>A uc010ooe.1 + 17 3301 c.2977G>A c.(2977-2979)Gag>Aag p.E993K HEATR8_uc001cxq.3_Non-coding_Transcript|HEATR8_uc010ooc.1_Nonsense_Mutation_p.W522*|HEATR8_uc010ood.1_Missense_Mutation_p.E511K|HEATR8_uc001cxs.2_Non-coding_Transcript|HEATR8_uc010oof.1_Non-coding_Transcript|HEATR8_uc001cxr.1_Non-coding_Transcript|HEATR8_uc009vzq.1_Non-coding_Transcript|HEATR8_uc001cxt.1_Non-coding_Transcript|HEATR8_uc009vzr.1_Missense_Mutation_p.E195K NM_001039464 NP_001034553 Q68CQ1 HEAT8_HUMAN Homo sapiens HEAT repeat containing 8 (HEATR8), transcript variant 1, mRNA. 993 integral to membrane binding breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(17)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 CCTCCAGATGGAGCAGGTGCG 0.622000 11 20 0 0 0.00121646 0 0 ST18 9705 broad.mit.edu 37 8 53079445 53079445 + Missense_Mutation SNP C G G TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr8:53079445C>G uc003xqz.2 - 5 1327 c.1171G>C c.(1171-1173)Ggg>Cgg p.G391R ST18_uc011ldq.1_Missense_Mutation_p.G38R|ST18_uc011ldr.1_Missense_Mutation_p.G356R|ST18_uc011lds.1_Missense_Mutation_p.G296R|ST18_uc003xra.2_Missense_Mutation_p.G391R|ST18_uc003xrb.2_Missense_Mutation_p.G391R NM_014682 NP_055497 O60284 ST18_HUMAN Homo sapiens suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein) (ST18), mRNA. 391 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.S390L(1)|p.S390S(1) NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 85 Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229) TGGGGGCACCCCGAAAGGCTG 0.562000 49 43 0 0 0.0025221 0 0 OTUD7A 161725 broad.mit.edu 37 15 31776795 31776795 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr15:31776795C>T uc001zfq.3 - 10 1576 c.1483G>A c.(1483-1485)Gac>Aac p.D495N OTUD7A_uc001zfr.3_Missense_Mutation_p.D502N NM_130901 NP_570971 Q8TE49 OTU7A_HUMAN Homo sapiens OTU domain containing 7A (OTUD7A), mRNA. 495 cytoplasm|nucleus DNA binding|cysteine-type peptidase activity|zinc ion binding endometrium(7)|large_intestine(4)|lung(11)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(4) 30 all_lung(180;1.6e-09) all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208) ttctccttgtccttGCCGTTC 0.607000 10 10 0 0 0.000978159 0 0 PKP2 5318 broad.mit.edu 37 12 32945632 32945632 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr12:32945632G>A uc001rlj.4 - 12 2638 c.2523C>T c.(2521-2523)tcC>tcT p.S841S PKP2_uc001rlk.4_Silent_p.S797S|PKP2_uc010skj.2_Silent_p.S794S NM_004572 NP_004563 Q99959 PKP2_HUMAN Homo sapiens plakophilin 2 (PKP2), transcript variant 2b, mRNA. 841 cell-cell adhesion desmosome|integral to membrane|nucleus binding NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1) 50 Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239) ACAGAAGGACGGAAGCAGCTT 0.473000 52 48 0 0 0.00361006 0 0 ZBTB7C 201501 broad.mit.edu 37 18 45566726 45566726 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr18:45566726G>A uc010dnv.3 - 2 1255 c.819C>T c.(817-819)ttC>ttT p.F273F ZBTB7C_uc002ldb.3_Silent_p.F251F|ZBTB7C_uc010dnu.3_Silent_p.F260F|ZBTB7C_uc010dnw.3_Silent_p.F251F|ZBTB7C_uc010dnx.1_Silent_p.F251F|ZBTB7C_uc010dny.1_Silent_p.F251F|ZBTB7C_uc010dnz.1_Silent_p.F273F|ZBTB7C_uc010doi.1_Silent_p.F251F|ZBTB7C_uc010doj.1_Silent_p.F260F|ZBTB7C_uc010dok.1_Silent_p.F300F|ZBTB7C_uc010dol.1_Silent_p.F260F|ZBTB7C_uc010doa.1_Silent_p.F273F|ZBTB7C_uc010dob.1_Silent_p.F251F|ZBTB7C_uc010doc.1_Silent_p.F260F|ZBTB7C_uc010dod.1_Silent_p.F273F|ZBTB7C_uc010doe.1_Silent_p.F251F|ZBTB7C_uc010dof.1_Silent_p.F251F|ZBTB7C_uc010dog.1_Silent_p.F251F|ZBTB7C_uc010doh.1_Silent_p.F260F|ZBTB7C_uc010dom.1_Silent_p.F260F|ZBTB7C_uc010don.1_Silent_p.F259F|ZBTB7C_uc010dop.1_Silent_p.F251F|ZBTB7C_uc010doq.1_Silent_p.F260F|ZBTB7C_uc010dor.1_Silent_p.F273F|ZBTB7C_uc010dos.1_Silent_p.F251F|ZBTB7C_uc010dot.1_Silent_p.F251F|ZBTB7C_uc010doo.1_Silent_p.F251F|ZBTB7C_uc010dou.1_Silent_p.F260F NM_001039360 NP_001034449 A1YPR0 ZBT7C_HUMAN Homo sapiens zinc finger and BTB domain containing 7C (ZBTB7C), mRNA. 251 intracellular nucleic acid binding|zinc ion binding endometrium(8)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 23 AGTCCGGGGCGAATGGAGACA 0.597000 30 22 0 0 0.00332997 0 0 CACNA1E 777 broad.mit.edu 37 1 181741296 181741296 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:181741296G>A uc009wxt.3 + 36 5263 c.5068G>A c.(5068-5070)Gag>Aag p.E1690K CACNA1E_uc001gow.3_Missense_Mutation_p.E1690K|CACNA1E_uc009wxs.3_Missense_Mutation_p.E1671K|CACNA1E_uc001gox.1_Missense_Mutation_p.E916K NM_001205293 NP_001192222 Q15878 CAC1E_HUMAN Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA. 1690 energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity p.E1690K(3) NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 204 AGGGCAGAACGAGAACGAACG 0.557000 28 36 0 0 0.000953801 0 0 ATP13A4 84239 broad.mit.edu 37 3 193175222 193175222 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr3:193175222G>A uc003ftd.3 - 14 1815 c.1707C>T c.(1705-1707)atC>atT p.I569I ATP13A4_uc003fte.1_Silent_p.I569I|ATP13A4_uc011bsr.1_Silent_p.I40I|ATP13A4_uc010hzi.3_Non-coding_Transcript NM_032279 NP_115655 Q4VNC1 AT134_HUMAN Homo sapiens ATPase type 13A4 (ATP13A4), mRNA. 569 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2) 71 all_cancers(143;1.76e-08)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;0.000109) GCACTCCCTTGATGTGGAAAT 0.463000 88 82 0 0 0.00361006 0 0 A2M 2 broad.mit.edu 37 12 9248273 9248273 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr12:9248273C>T uc001qvk.1 - 15 1988 c.1875G>A c.(1873-1875)aaG>aaA p.K625K A2M_uc009zgk.1_Silent_p.K475K NM_000014 NP_000005 P01023 A2MG_HUMAN Homo sapiens alpha-2-macroglobulin (A2M), mRNA. 625 blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|extracellular space|platelet alpha granule lumen GTPase activator activity|enzyme binding|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 77 Bacitracin(DB00626)|Becaplermin(DB00102) CAGTGAGGTCCTTTTCTGGTA 0.353000 76 35 0 0 0.00128727 0 0 DNAJC2 27000 broad.mit.edu 37 7 102956221 102956221 + Silent SNP T C C TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr7:102956221T>C uc003vbo.3 - 14 1877 c.1626A>G c.(1624-1626)gaA>gaG p.E542E PMPCB_uc011kll.1_Intron|DNAJC2_uc003vbn.3_Silent_p.E167E|DNAJC2_uc010lix.3_Silent_p.E489E|DNAJC2_uc003vbp.3_Silent_p.E167E NM_014377 NP_055192 Q99543 DNJC2_HUMAN Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 2 (DNAJC2), transcript variant 1, mRNA. 542 'de novo' cotranslational protein folding|chromatin modification|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nuclear membrane DNA binding|Hsp70 protein binding|chromatin binding|histone binding|ubiquitin binding endometrium(1)|kidney(9)|large_intestine(6)|lung(4)|ovary(1) 21 CTTCAAATCGTTCTGAAGGCG 0.383000 22 72 0 0 0.00361006 0 0 WBSCR17 64409 broad.mit.edu 37 7 70800709 70800709 + Missense_Mutation SNP C T T rs146773920 by1000genomes TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr7:70800709C>T uc003tvy.3 + 1 412 c.412C>T c.(412-414)Cgt>Tgt p.R138C WBSCR17_uc003tvz.3_5'UTR NM_022479 NP_071924 Q6IS24 GLTL3_HUMAN Homo sapiens Williams-Beuren syndrome chromosome region 17 (WBSCR17), mRNA. 138 Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 100 all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125) TCCGGATTATCGTCCCACCAA 0.463000 59 29 0 0 0.001512 0 0 PAPPA2 60676 broad.mit.edu 37 1 176668500 176668500 + Missense_Mutation SNP A T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:176668500A>T uc001gkz.3 + 7 4175 c.3011A>T c.(3010-3012)gAc>gTc p.D1004V PAPPA2_uc009www.3_Non-coding_Transcript NM_020318 NP_064714 Q9BXP8 PAPP2_HUMAN Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA. 1004 cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding 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 ACTTTCTGTGACATCCCACTC 0.507000 104 37 0 0 0.000814825 0 0 AKR1B10 57016 broad.mit.edu 37 7 134221440 134221440 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr7:134221440C>T uc003vrr.3 + 4 788 c.468C>T c.(466-468)gcC>gcT p.A156A NM_020299 NP_064695 O60218 AK1BA_HUMAN Homo sapiens aldo-keto reductase family 1, member B10 (aldose reductase) (AKR1B10), mRNA. 156 cellular aldehyde metabolic process|digestion|steroid metabolic process cytoplasm aldo-keto reductase (NADP) activity|protein binding NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(9)|skin(5) 20 TGGTGAAAGCCCTTGGGGTCT 0.493000 113 36 0 0 0.00327116 0 0 HS3ST1 9957 broad.mit.edu 37 4 11401168 11401168 + Silent SNP T C C TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr4:11401168T>C uc003gmq.3 - 1 785 c.462A>G c.(460-462)ctA>ctG p.L154L HS3ST1_uc021xmg.1_Silent_p.L154L NM_005114 NP_005105 O14792 HS3S1_HUMAN Homo sapiens heparan sulfate (glucosamine) 3-O-sulfotransferase 1 (HS3ST1), mRNA. 154 Golgi lumen|integral to membrane [heparan sulfate]-glucosamine 3-sulfotransferase 1 activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|skin(3) 15 TGTAGTCAGATAGCACGCGCT 0.587000 23 15 0 0 0.00316338 0 0 DDX39B 7919 broad.mit.edu 37 6 31503225 31503225 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr6:31503225G>A uc003ntt.3 - 5 1312 c.654C>T c.(652-654)acC>acT p.T218T DDX39B_uc003ntr.3_5'Flank|DDX39B_uc003ntu.3_Silent_p.T218T|DDX39B_uc011dnn.2_Silent_p.T140T|DDX39B_uc003ntv.3_Silent_p.T218T|DDX39B_uc003ntw.2_Silent_p.T218T|DDX39B_uc003ntx.2_Silent_p.T218T|DDX39B_uc011dno.1_Silent_p.T171T|DDX39B_uc011dnp.1_Silent_p.T140T NM_004640 NP_542165 Q13838 DX39B_HUMAN Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 39B (DDX39B), transcript variant 1, mRNA. 218 Helicase ATP-binding. RNA secondary structure unwinding|intronless viral mRNA export from host nucleus|spliceosome assembly nuclear speck|spliceosomal complex|transcription export complex ATP binding|ATP-dependent RNA helicase activity|ATP-dependent protein binding|U4 snRNA binding|U6 snRNA binding|identical protein binding NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 19 TCTCGTGGGGGGTCATGCGAA 0.433000 67 58 0 0 0.00361006 0 0 SLC22A16 85413 broad.mit.edu 37 6 110763506 110763506 + Missense_Mutation SNP G A A rs146329765 byFrequency TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr6:110763506G>A uc003puf.3 - 3 1191 c.1124C>T c.(1123-1125)tCg>tTg p.S375L SLC22A16_uc003pue.3_Missense_Mutation_p.S356L NM_033125 NP_149116 Q86VW1 S22AG_HUMAN Homo sapiens solute carrier family 22 (organic cation/carnitine transporter), member 16 (SLC22A16), mRNA. 375 acid secretion|cell differentiation|multicellular organismal development|single fertilization|sperm motility|spermatogenesis integral to membrane carnitine transporter activity breast(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 34 all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101) OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115) CAAGGAAAACGAGTAGAATCC 0.383000 7 29 0 0 0.00106085 0 0 KRT80 144501 broad.mit.edu 37 12 52565271 52565271 + Missense_Mutation SNP G C C TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr12:52565271G>C uc001rzw.3 - 6 1426 c.1375C>G c.(1375-1377)Cga>Gga p.R459G KRT80_uc001rzy.3_3'UTR|KRT80_uc001rzx.3_Missense_Mutation_p.R424G NM_182507 NP_872313 Q6KB66 K2C80_HUMAN Homo sapiens keratin 80 (KRT80), transcript variant 1, mRNA. 424 keratin filament structural molecule activity endometrium(2)|large_intestine(2)|lung(1) 5 BRCA - Breast invasive adenocarcinoma(357;0.108) TTCTTCTTTCGGGAGGGGGCC 0.562000 51 20 0 0 0.00188189 0 0 USH2A 7399 broad.mit.edu 37 1 216061780 216061780 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:216061780G>A uc001hku.1 - 40 8598 c.8211C>T c.(8209-8211)ccC>ccT p.P2737P NM_206933 NP_996816 O75445 USH2A_HUMAN Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA. 2737 Fibronectin type-III 14. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) GGACTGCATCGGGTTCCAGCA 0.507000 HNSCC(13;0.011) 43 15 0 0 0.00074312 0 0 IZUMO4 113177 broad.mit.edu 37 19 2099315 2099315 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:2099315G>A uc002luw.1 + 9 747 c.670G>A c.(670-672)Gat>Aat p.D224N IZUMO4_uc002lux.1_Missense_Mutation_p.D206N|IZUMO4_uc010xgw.1_3'UTR NM_001039846 NP_001034935 Q1ZYL8 IZUM4_HUMAN Homo sapiens IZUMO family member 4 (IZUMO4), transcript variant 3, mRNA. 224 extracellular region central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1) 6 GACCTTGGAAGATGCTGCTGA 0.642000 25 5 0 0 0.00116845 0 0 OR9A4 130075 broad.mit.edu 37 7 141619558 141619558 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr7:141619558G>A uc003vwu.1 + 0 883 c.883G>A c.(883-885)Gat>Aat p.D295N NM_001001656 NP_001001656 Q8NGU2 OR9A4_HUMAN Homo sapiens olfactory receptor, family 9, subfamily A, member 4 (OR9A4), mRNA. 295 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) CCTCCGGAATGATAAAGTCAT 0.458000 33 84 0 0 0.00361006 0 0 PCDHAC2 56134 broad.mit.edu 37 5 140229475 140229475 + Silent SNP G A A rs17844330 TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr5:140229475G>A uc003lhu.2 + 0 2119 c.1395G>A c.(1393-1395)aaG>aaA p.K465K PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lht.1_Silent_p.K465K NM_031857 NP_114063 Q9Y5I4 PCDC2_HUMAN Homo sapiens protocadherin alpha 9 (PCDHA9), transcript variant 1, mRNA. 479 Cadherin 4. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 45 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGTTCGTGAAGGAGAACAACC 0.662000 2 43 0 0 0.00195071 0 0 MTCH2 23788 broad.mit.edu 37 11 47656245 47656245 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr11:47656245G>A uc010rho.2 - 4 537 c.348C>T c.(346-348)tcC>tcT p.S116S MTCH2_uc010rhp.2_5'UTR NM_014342 NP_055157 Q9Y6C9 MTCH2_HUMAN Homo sapiens mitochondrial carrier 2 (MTCH2), nuclear gene encoding mitochondrial protein, mRNA. 116 transport integral to membrane|mitochondrial inner membrane endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 11 CGTGGTCAAAGGAAGATGAGA 0.363000 29 8 0 0 0.000978159 0 0 KCNQ4 9132 broad.mit.edu 37 1 41300637 41300637 + Splice_Site SNP A C C TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:41300637A>C uc001cgh.2 + 12 1696 c.1614_splice c.e12-2 p.R538_splice KCNQ4_uc001cgi.2_Splice_Site_p.R484_splice NM_004700 NP_004691 P56696 KCNQ4_HUMAN Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 4 (KCNQ4), transcript variant 1, mRNA. 538 sensory perception of sound basal plasma membrane|voltage-gated potassium channel complex central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(13)|skin(1) 26 Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;1.38e-17) CTCCCCCAACAGGATTCTCAA 0.557000 26 51 0 0 0.00361006 0 0 OR10J5 127385 broad.mit.edu 37 1 159505776 159505776 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:159505776C>T uc010piw.2 - 0 22 c.22G>A c.(22-24)Gaa>Aaa p.E8K NM_001004469 NP_001004469 Q8NHC4 O10J5_HUMAN Homo sapiens olfactory receptor, family 10, subfamily J, member 5 (OR10J5), mRNA. 8 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 22 all_hematologic(112;0.0429) TCTGACACTTCTGTGAAGTTC 0.363000 47 10 0 0 0.000673444 0 0 RBM10 8241 broad.mit.edu 37 X 47039676 47039676 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chrX:47039676C>T uc004dhi.3 + 10 1552 c.1323C>T c.(1321-1323)acC>acT p.T441T RBM10_uc004dhf.3_Silent_p.T376T|RBM10_uc004dhh.3_Silent_p.T375T|RBM10_uc010nhq.3_Silent_p.T299T|RBM10_uc004dhg.3_Silent_p.T298T NM_001204468 NP_001191397 P98175 RBM10_HUMAN Homo sapiens RNA binding motif protein 10 (RBM10), transcript variant 5, mRNA. 376 RNA splicing|mRNA processing chromatin remodeling complex RNA binding|nucleotide binding|zinc ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 48 ACGGCAAGACCATCAATGTTG 0.632000 0 9 0 0 0.000442599 0 0 IRF7 3665 broad.mit.edu 37 11 615225 615225 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr11:615225G>A uc001lqg.3 - 0 504 c.94C>T c.(94-96)Ctt>Ttt p.L32F IRF7_uc009ycb.3_5'UTR|IRF7_uc010qwf.2_Missense_Mutation_p.L19F|IRF7_uc001lqf.3_5'UTR|IRF7_uc010qwg.2_5'UTR|IRF7_uc001lqh.3_Missense_Mutation_p.L19F|IRF7_uc001lqi.3_Missense_Mutation_p.L19F|IRF7_uc010qwh.2_5'UTR NM_004031 NP_004022 Q92985 IRF7_HUMAN Homo sapiens interferon regulatory factor 7 (IRF7), transcript variant d, mRNA. 19 MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|positive regulation of interferon-alpha production|positive regulation of transcription from RNA polymerase II promoter|response to virus|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway cytosol|endosome membrane|nucleoplasm|plasma membrane DNA binding|protein binding|sequence-specific DNA binding transcription factor activity endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 8 all_cancers(49;1.69e-08)|all_epithelial(84;1.65e-05)|Breast(177;0.000231)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136) all cancers(45;7.68e-28)|Epithelial(43;7.44e-27)|OV - Ovarian serous cystadenocarcinoma(40;3.53e-21)|BRCA - Breast invasive adenocarcinoma(625;6.96e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703) ATCTCTCCAAGGAGCCACTCT 0.697000 6 6 0 0 0.00198382 0 0 SMPD4 55627 broad.mit.edu 37 2 130911935 130911935 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:130911935G>A uc002tqq.2 - 15 2840 c.1691C>T c.(1690-1692)tCc>tTc p.S564F SMPD4_uc002tqo.2_Missense_Mutation_p.S96F|SMPD4_uc002tqp.2_Missense_Mutation_p.S303F|SMPD4_uc010yzy.2_Missense_Mutation_p.S313F|SMPD4_uc010yzz.2_Missense_Mutation_p.S228F|SMPD4_uc002tqs.2_Missense_Mutation_p.S432F|SMPD4_uc002tqr.2_Missense_Mutation_p.S535F|SMPD4_uc010zaa.2_Missense_Mutation_p.S422F|SMPD4_uc010zab.2_Missense_Mutation_p.S462F|SMPD4_uc002tqt.2_Missense_Mutation_p.S413F|SMPD4_uc010zac.2_Missense_Mutation_p.S305F|SMPD4_uc010zad.2_Missense_Mutation_p.S200F NM_017951 NP_060421 Q9NXE4 NSMA3_HUMAN Homo sapiens sphingomyelin phosphodiesterase 4, neutral membrane (neutral sphingomyelinase-3) (SMPD4), transcript variant 2, mRNA. 525 sphingomyelin catabolic process Golgi membrane|endoplasmic reticulum membrane|integral to membrane|trans-Golgi network metal ion binding|protein binding|sphingomyelin phosphodiesterase D activity|sphingomyelin phosphodiesterase activity breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(17)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 29 Colorectal(110;0.1) Phosphatidylserine(DB00144) CACCTTGAAGGAGGCATCAGT 0.647000 12 9 0 0 0.000978159 0 0 FAM45A 404636 broad.mit.edu 37 X 129629636 129629636 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chrX:129629636G>A uc010nrh.3 + 0 722 c.504G>A c.(502-504)atG>atA p.M168I BC043223_uc004evu.3_Intron NM_207009 NP_996892 Q8TCE6 FA45A_HUMAN Homo sapiens family with sequence similarity 45, member A (FAM45A), mRNA. 168 breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1) 14 Lung NSC(174;0.094)|all_lung(145;0.123) all cancers(201;0.0293) AGTTTGGAATGGAAACTGTTA 0.468000 4 24 0 0 0.00106085 0 0 TTN 7273 broad.mit.edu 37 2 179467247 179467247 + Missense_Mutation SNP T G G TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:179467247T>G uc021vsy.1 - 231 47403 c.47178A>C c.(47176-47178)aaA>aaC p.K15726N MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.K9421N|TTN_uc021vta.1_Missense_Mutation_p.K9354N|TTN_uc021vtb.1_Missense_Mutation_p.K9229N NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 16653 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) TGGCTGGAGGTTTCCATCCTA 0.408000 18 4 0 0 0.00024832 0 0 NAPSA 9476 broad.mit.edu 37 19 50863041 50863041 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:50863041G>A uc002prx.3 - 5 800 c.747C>T c.(745-747)ttC>ttT p.F249F NR1H2_uc002prv.4_Intron NM_004851 NP_004842 O96009 NAPSA_HUMAN Homo sapiens napsin A aspartic peptidase (NAPSA), mRNA. 249 proteolysis extracellular region aspartic-type endopeptidase activity breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(3) 12 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.00743)|GBM - Glioblastoma multiforme(134;0.0183) TGACTGGCACGAAGGTGAGGG 0.647000 93 21 0 0 0.00278032 0 0 SOX10 6663 broad.mit.edu 37 22 38370151 38370151 + Missense_Mutation SNP G A A rs74315518 TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr22:38370151G>A uc003aun.1 - 3 1030 c.752C>T c.(751-753)tCg>tTg p.S251L AK098727_uc003aum.3_Intron|SOX10_uc003auo.1_Missense_Mutation_p.S251L NM_006941 NP_008872 P56693 SOX10_HUMAN Homo sapiens SRY (sex determining region Y)-box 10 (SOX10), mRNA. 251 cytoplasm|nucleus DNA binding|identical protein binding|transcription coactivator activity NS(6)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|skin(2) 20 Melanoma(58;0.045) TGCCTTGCCCGACTGCAGCTC 0.652000 169 102 0 0 0.00361006 0 0 SYT5 6861 broad.mit.edu 37 19 55689657 55689657 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:55689657C>T uc002qjm.1 - 1 1219 c.159G>A c.(157-159)aaG>aaA p.K53K SYT5_uc002qjp.2_Intron|SYT5_uc002qjn.1_Silent_p.K53K|SYT5_uc002qjo.1_Silent_p.K53K NM_003180 NP_003171 O00445 SYT5_HUMAN Homo sapiens synaptotagmin V (SYT5), mRNA. 53 energy reserve metabolic process|regulation of insulin secretion|synaptic transmission cell junction|integral to membrane|recycling endosome membrane|synaptic vesicle membrane metal ion binding|transporter activity kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 18 BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.0452) TCCGACAGCTCTTCCGGTAGA 0.617000 53 5 0 0 0.00198382 0 0 MAP2 4133 broad.mit.edu 37 2 210595033 210595033 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:210595033C>T uc002vde.1 + 14 5644 c.5396C>T c.(5395-5397)tCg>tTg p.S1799L MAP2_uc002vdd.1_Missense_Mutation_p.S531L|MAP2_uc002vdf.1_Missense_Mutation_p.S474L|MAP2_uc002vdg.1_Missense_Mutation_p.S443L|MAP2_uc002vdh.1_Missense_Mutation_p.S500L|MAP2_uc002vdi.1_Missense_Mutation_p.S1795L NM_002374 NP_002365 P11137 MAP2_HUMAN Homo sapiens microtubule-associated protein 2 (MAP2), transcript variant 1, mRNA. 1799 central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization cytoplasm|microtubule|microtubule associated complex beta-dystroglycan binding|calmodulin binding|structural molecule activity breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 124 Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202) UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18) Estramustine(DB01196) AATGTCTCCTCGTCTGGAAGC 0.542000 25 20 0 0 0.00188189 0 0 MUC16 94025 broad.mit.edu 37 19 9066457 9066457 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:9066457G>A uc002mkp.3 - 2 21193 c.20989C>T c.(20989-20991)Cct>Tct p.P6997S NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 6999 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 GAAGGGCCAGGGATGGATGTT 0.483000 68 118 0 0 0.00361006 0 0 KLK9 284366 broad.mit.edu 37 19 51509897 51509898 + Missense_Mutation DNP GG AA AA TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:51509897_51509898GG>AA uc002pux.1 - 2 369_370 c.282_283CC>TT c.(280-285)ttcccc>ttTTcc p.P95S KLK9_uc002puw.1_Non-coding_Transcript|KLK9_uc010eol.1_Missense_Mutation_p.P66S|KLK8_uc002puv.1_5'Flank NM_012315 NP_036447 Q9UKQ9 KLK9_HUMAN Homo sapiens kallikrein-related peptidase 9 (KLK9), mRNA. 95 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(1) 7 all_neural(266;0.0652) OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00885) CCAGGGTGGGGGAAGAAGTCCG 0.604000 62 13 0 0 6.4e-05 0 0 OBSCN 84033 broad.mit.edu 37 1 228525717 228525717 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:228525717G>A uc009xez.1 + 66 16917 c.16873G>A c.(16873-16875)Gaa>Aaa p.E5625K OBSCN_uc001hsn.3_Missense_Mutation_p.E5625K|OBSCN_uc001hsr.1_Missense_Mutation_p.E253K NM_001098623 NP_001092093 Q5VST9 OBSCN_HUMAN Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA. 5625 SH3. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction M band|Z disc|cytosol ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|structural constituent of muscle|titin binding NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) CACGCTGCGGGAAGGCCAGTA 0.632000 6 14 0 0 0.000566183 0 0 ZNF442 79973 broad.mit.edu 37 19 12461073 12461073 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:12461073G>A uc002mtr.1 - 5 1937 c.1326C>T c.(1324-1326)ttC>ttT p.F442F ZNF442_uc010xmk.1_Silent_p.F373F NM_030824 NP_110451 Q9H7R0 ZN442_HUMAN Homo sapiens zinc finger protein 442 (ZNF442), mRNA. 442 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 31 TAGAAATACGGAAGGCTTTAC 0.383000 37 47 0 0 0.00361006 0 0 BCL2L2-PABPN1 100529063 broad.mit.edu 37 14 23792248 23792248 + Silent SNP T C C TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr14:23792248T>C uc001wjh.4 + 4 817 c.588T>C c.(586-588)gcT>gcC p.A196A BCL2L2-PABPN1_uc001wjj.3_Silent_p.A169A|BCL2L2-PABPN1_uc001wjk.3_Silent_p.A169A NM_001199864 NP_001186793 Homo sapiens BCL2L2-PABPN1 readthrough (BCL2L2-PABPN1), mRNA. AGATGGAGGCTGATGCCCGTT 0.433000 96 37 0 0 0.00285205 0 0 TGM6 343641 broad.mit.edu 37 20 2375099 2375099 + Splice_Site SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr20:2375099G>A uc002wfy.1 + 2 69 c.8_splice c.e2-1 p.G3_splice TGM6_uc010gal.1_Splice_Site_p.G3_splice NM_198994 NP_945345 O95932 TGM3L_HUMAN Homo sapiens transglutaminase 6 (TGM6), transcript variant 1, mRNA. 3 cell death|peptide cross-linking acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4) 52 L-Glutamine(DB00130) CCCACCCAGGGATCAGAGTCA 0.612000 29 11 0 0 0.00136819 0 0 DSPP 1834 broad.mit.edu 37 4 88533886 88533886 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr4:88533886G>A uc003hqu.3 + 3 668 c.548G>A c.(547-549)gGa>gAa p.G183E NM_014208 NP_055023 Q9NZW4 DSPP_HUMAN Homo sapiens dentin sialophosphoprotein (DSPP), mRNA. 183 biomineral tissue development|ossification|skeletal system development proteinaceous extracellular matrix calcium ion binding|collagen binding|extracellular matrix structural constituent breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 47 Hepatocellular(203;0.114)|all_hematologic(202;0.236) OV - Ovarian serous cystadenocarcinoma(123;0.000508) CAAGAAGATGGACCTCAAGTA 0.408000 22 21 0 0 0.00152264 0 0 OR5H14 403273 broad.mit.edu 37 3 97868918 97868918 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr3:97868918C>T uc003dsg.1 + 0 689 c.689C>T c.(688-690)tCt>tTt p.S230F NM_001005514 NP_001005514 A6NHG9 O5H14_HUMAN Homo sapiens olfactory receptor, family 5, subfamily H, member 14 (OR5H14), mRNA. 230 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 31 AAAAAGAAGTCTGTCAAAGGT 0.378000 25 24 0 0 0.00127121 0 0 CSRNP1 64651 broad.mit.edu 37 3 39184921 39184921 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr3:39184921G>A uc003cjg.3 - 4 1609 c.1395C>T c.(1393-1395)ttC>ttT p.F465F CSRNP1_uc003cjh.3_Silent_p.F465F NM_033027 NP_149016 Q96S65 CSRN1_HUMAN Homo sapiens cysteine-serine-rich nuclear protein 1 (CSRNP1), mRNA. 465 apoptosis|positive regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|skin(3) 24 CACCATTTAGGAAGCAGCTGG 0.597000 18 11 0 0 0.000673444 0 0 CHTF18 63922 broad.mit.edu 37 16 846795 846795 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr16:846795C>T uc002ckf.4 + 17 2682 c.2619C>T c.(2617-2619)gcC>gcT p.A873A CHTF18_uc002cke.4_Silent_p.A845A|CHTF18_uc010brf.3_Silent_p.A427A|CHTF18_uc002ckg.4_Silent_p.A363A NM_022092 NP_071375 Q8WVB6 CTF18_HUMAN Homo sapiens CTF18, chromosome transmission fidelity factor 18 homolog (S. cerevisiae) (CHTF18), mRNA. 845 DNA replication|cell cycle nucleus ATP binding|DNA binding|nucleoside-triphosphatase activity p.P873Q(1) endometrium(1)|kidney(3)|liver(2)|lung(4)|prostate(1) 11 Hepatocellular(780;0.00335) AGCTCATCGCCCGCGAGATCG 0.662000 16 12 0 0 0.00229938 0 0 IBSP 3381 broad.mit.edu 37 4 88731890 88731890 + Silent SNP T C C TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr4:88731890T>C uc003hqx.4 + 5 477 c.379T>C c.(379-381)Tta>Cta p.L127L NM_004967 NP_004958 P21815 SIAL_HUMAN Homo sapiens integrin-binding sialoprotein (IBSP), mRNA. 127 Asp/Glu-rich (acidic). biomineral tissue development|cell adhesion|ossification breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10) 21 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000333)|COAD - Colon adenocarcinoma(81;0.154) GTATACAGGGTTAGCTGCAAT 0.403000 26 25 0 0 0.000878237 0 0 SCN10A 6336 broad.mit.edu 37 3 38755466 38755466 + Nonsense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr3:38755466G>A uc003ciq.3 - 20 3787 c.3787C>T c.(3787-3789)Cga>Tga p.R1263* NM_006514 NP_006505 Q9Y5Y9 SCNAA_HUMAN Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA. 1263 sensory perception voltage-gated sodium channel complex NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 150 KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945) Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296) CCTTCAAATCGAGAAAGAGCC 0.532000 38 37 0 0 0.00148497 0 0 RBM19 9904 broad.mit.edu 37 12 114395671 114395671 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr12:114395671G>A uc009zwi.2 - 5 900 c.756C>T c.(754-756)gtC>gtT p.V252V RBM19_uc001tvn.4_Silent_p.V252V|RBM19_uc001tvm.3_Silent_p.V252V NM_001146699 NP_057280 Q9Y4C8 RBM19_HUMAN Homo sapiens RNA binding motif protein 19 (RBM19), transcript variant 1, mRNA. 252 multicellular organismal development|positive regulation of embryonic development chromosome|cytoplasm|nucleolus|nucleoplasm RNA binding|nucleotide binding NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(4) 55 Medulloblastoma(191;0.163)|all_neural(191;0.178) TTTCCTGCAGGACTGGGGTGG 0.597000 49 53 0 0 0.00361006 0 0 SERPINA4 5267 broad.mit.edu 37 14 95030225 95030225 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr14:95030225G>A uc010avd.3 + 1 791 c.517G>A c.(517-519)Gaa>Aaa p.E173K SERPINA4_uc001ydk.3_Missense_Mutation_p.E136K|SERPINA4_uc001ydl.3_Missense_Mutation_p.E136K NM_006215 NP_006206 P29622 KAIN_HUMAN Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4 (SERPINA4), mRNA. 136 regulation of proteolysis extracellular space serine-type endopeptidase inhibitor activity breast(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(28)|ovary(3)|skin(1)|urinary_tract(1) 46 COAD - Colon adenocarcinoma(157;0.211) CCATGGGCTGGAAACACGCGT 0.567000 36 44 0 0 0.00361006 0 0 TENC1 23371 broad.mit.edu 37 12 53456001 53456001 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr12:53456001C>T uc001sbp.3 + 22 3774 c.3639C>T c.(3637-3639)atC>atT p.I1213I TENC1_uc001sbl.3_Silent_p.I1089I|TENC1_uc001sbn.3_Silent_p.I1223I|TENC1_uc001sbq.3_Silent_p.I611I|TENC1_uc001sbr.3_Non-coding_Transcript|TENC1_uc009zmr.3_Silent_p.I708I NM_170754 NP_938072 Q63HR2 TENC1_HUMAN Homo sapiens tensin like C1 domain containing phosphatase (tensin 2) (TENC1), transcript variant 2, mRNA. 1213 SH2. intracellular signal transduction|negative regulation of cell proliferation focal adhesion metal ion binding|phosphoprotein phosphatase activity|protein binding central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(19)|ovary(1)|pancreas(1)|stomach(3) 34 GGGTGAAGATCAAGGGCTGCC 0.597000 20 34 0 0 0.00111076 0 0 C3 718 broad.mit.edu 37 19 6685135 6685135 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:6685135G>A uc002mfm.3 - 29 3895 c.3833C>T c.(3832-3834)gCc>gTc p.A1278V NM_000064 NP_000055 P01024 CO3_HUMAN Homo sapiens complement component 3 (C3), mRNA. 1278 G-protein coupled receptor protein signaling pathway|complement activation, alternative pathway|complement activation, classical pathway|inflammatory response|positive regulation vascular endothelial growth factor production extracellular space endopeptidase inhibitor activity|receptor binding breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3) 72 GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661) TTGAGCCAAGGCTTGGAACAC 0.542000 11 14 0 0 0.000422831 0 0 NLRP7 199713 broad.mit.edu 37 19 55451819 55451819 + Nonsense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:55451819C>T uc002qih.4 - 3 444 c.368G>A c.(367-369)tGg>tAg p.W123* NLRP7_uc010esk.3_Nonsense_Mutation_p.W123*|NLRP7_uc002qig.4_Nonsense_Mutation_p.W123*|NLRP7_uc002qii.4_Nonsense_Mutation_p.W123*|NLRP7_uc010esl.3_Nonsense_Mutation_p.W151* NM_206828 NP_996611 Q8WX94 NALP7_HUMAN Homo sapiens NLR family, pyrin domain containing 7 (NLRP7), transcript variant 2, mRNA. 123 ATP binding autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 73 GBM - Glioblastoma multiforme(193;0.0325) TGAATTTCTCCATCCTTCCTT 0.438000 151 393 0 0 0.00361006 0 0 LIN9 286826 broad.mit.edu 37 1 226420283 226420283 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:226420283G>A uc001hqa.2 - 14 1906 c.1596C>T c.(1594-1596)atC>atT p.I532I LIN9_uc001hqb.2_Silent_p.I497I|LIN9_uc001hqc.3_Silent_p.I464I NM_173083 NP_775106 Q5TKA1 LIN9_HUMAN Homo sapiens lin-9 homolog (C. elegans) (LIN9), mRNA. 516 DNA replication|cell cycle nucleoplasm breast(3)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 28 Breast(184;0.158) GBM - Glioblastoma multiforme(131;0.131) GTGCAACATGGATTTCTACAT 0.323000 52 15 0 0 0.00074312 0 0 LRP1B 53353 broad.mit.edu 37 2 141986947 141986947 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:141986947G>A uc002tvj.1 - 5 1627 c.655C>T c.(655-657)Ctt>Ttt p.L219F LRP1B_uc010fnl.1_Intron NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA. 219 protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) CTTCCATTAAGATAGAAAACC 0.289000 TSP Lung(27;0.18) 30 32 0 0 0.00209593 0 0 ZNF780A 284323 broad.mit.edu 37 19 40581424 40581424 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:40581424C>T uc010xvh.2 - 5 1076 c.928G>A c.(928-930)Gaa>Aaa p.E310K ZNF780A_uc002omw.4_Intron|ZNF780A_uc002omy.3_Missense_Mutation_p.E309K|ZNF780A_uc002omz.3_Missense_Mutation_p.E309K NM_001142577 NP_001136049 O75290 Z780A_HUMAN Homo sapiens zinc finger protein 780A (ZNF780A), transcript variant 1, mRNA. 309 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1) 31 all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925) ATCCCACATTCCTTACATACA 0.388000 59 49 0 0 0.00361006 0 0 GRID2 2895 broad.mit.edu 37 4 94006212 94006212 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr4:94006212C>T uc011cdt.2 + 2 569 c.311C>T c.(310-312)tCc>tTc p.S104F GRID2_uc010ikx.3_Missense_Mutation_p.S104F|GRID2_uc011cdu.2_Intron|GRID2_uc011cdv.1_Non-coding_Transcript NM_001510 NP_001501 O43424 GRID2_HUMAN Homo sapiens glutamate receptor, ionotropic, delta 2 (GRID2), mRNA. 104 glutamate signaling pathway cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity p.S104Y(2) NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 Hepatocellular(203;0.114)|all_hematologic(202;0.177) OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191) L-Glutamic Acid(DB00142) TCAGCAGGATCCCTCCAGTCT 0.537000 19 18 0 0 0.00074312 0 0 OR1M1 125963 broad.mit.edu 37 19 9204520 9204520 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:9204520C>T uc010xkj.2 + 0 600 c.600C>T c.(598-600)ctC>ctT p.L200L NM_001004456 NP_001004456 Q8NGA1 OR1M1_HUMAN Homo sapiens olfactory receptor, family 1, subfamily M, member 1 (OR1M1), mRNA. 200 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(4)|large_intestine(3)|lung(17)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 32 TCTTCATCCTCATTGTGGCAG 0.567000 46 50 0 0 0.00361006 0 0 GIMAP8 155038 broad.mit.edu 37 7 150164227 150164227 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr7:150164227C>T uc003whj.3 + 1 771 c.441C>T c.(439-441)ttC>ttT p.F147F NM_175571 NP_783161 Q8ND71 GIMA8_HUMAN Homo sapiens GTPase, IMAP family member 8 (GIMAP8), mRNA. 147 Golgi apparatus|endoplasmic reticulum|mitochondrion GTP binding breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1) 62 OV - Ovarian serous cystadenocarcinoma(82;0.0218) UCEC - Uterine corpus endometrioid carcinoma (81;0.17) TGCAAGATTTCATTGAAAAAA 0.448000 4 22 0 0 0.00229938 0 0 AL117485 0 broad.mit.edu 37 22 18844923 18844923 + RNA SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr22:18844923C>T uc002zoe.3 + 3 c.2177C>T AL117485_uc002zof.3_5'Flank Homo sapiens cDNA FLJ76361 complete cds. GCGTTCACGTCCATCTCGCTC 0.572000 38 22 0 0 0.00178596 0 0 CAPN9 10753 broad.mit.edu 37 1 230930959 230930959 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:230930959G>A uc001htz.1 + 17 2034 c.1921G>A c.(1921-1923)Gat>Aat p.D641N CAPN9_uc009xfg.1_Missense_Mutation_p.D578N|CAPN9_uc001hua.1_Missense_Mutation_p.D615N NM_006615 NP_006606 O14815 CAN9_HUMAN Homo sapiens calpain 9 (CAPN9), transcript variant 1, mRNA. 641 Domain IV. digestion|proteolysis intracellular calcium ion binding|calcium-dependent cysteine-type endopeptidase activity autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 25 Breast(184;0.0871)|Ovarian(103;0.183) Prostate(94;0.167) CAGGTATGCGGATGAGGAGCT 0.612000 16 31 0 0 0.0024448 0 0 FSIP2 401024 broad.mit.edu 37 2 186673333 186673333 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:186673333G>A uc002upl.3 + 16 19567 c.19567G>A c.(19567-19569)Gga>Aga p.G6523R FSIP2_uc002upm.3_Intron NM_173651 NP_775922 Homo sapiens fibrous sheath interacting protein 2 (FSIP2), mRNA. NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2) 69 GCAACAATCAGGAACCAACAA 0.313000 31 36 0 0 0.00375469 0 0 TMEM143 55260 broad.mit.edu 37 19 48845857 48845857 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:48845857G>A uc002pix.1 - 5 914 c.905C>T c.(904-906)aCc>aTc p.T302I TMEM143_uc002piw.1_Intron|TMEM143_uc010xzn.1_Missense_Mutation_p.T237I|TMEM143_uc010elw.1_Missense_Mutation_p.T202I|TMEM143_uc010xzo.1_Missense_Mutation_p.T92I|TMEM143_uc002piy.1_Missense_Mutation_p.T267I|Mir_324_uc021uws.1_5'Flank NM_018273 NP_060743 Q96AN5 TM143_HUMAN Homo sapiens transmembrane protein 143 (TMEM143), mRNA. 302 integral to membrane|mitochondrion endometrium(2)|kidney(1)|large_intestine(2)|lung(9) 14 all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.000149)|all cancers(93;0.000198)|Epithelial(262;0.0151)|GBM - Glioblastoma multiforme(486;0.0157) CTTGAGGTCGGTTAGCACCAC 0.662000 21 10 0 0 0.00136819 0 0 OR10J3 441911 broad.mit.edu 37 1 159284216 159284216 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:159284216G>A uc010piu.2 - 0 234 c.234C>T c.(232-234)atC>atT p.I78I NM_001004467 NP_001004467 Q5JRS4 O10J3_HUMAN Homo sapiens olfactory receptor, family 10, subfamily J, member 3 (OR10J3), mRNA. 78 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.A77D(1) breast(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(19)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 47 all_hematologic(112;0.0429) TATGGGGAATGATGGCCACAG 0.483000 49 55 0 0 0.00361006 0 0 PCDHAC2 56134 broad.mit.edu 37 5 140263830 140263830 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr5:140263830G>A uc003lif.2 + 0 1977 c.1977G>A c.(1975-1977)ctG>ctA p.L659L PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc003lic.2_Intron|PCDHAC2_uc003lie.1_Silent_p.L659L|PCDHAC2_uc003lid.3_Silent_p.L659L NM_018904 NP_061727 Q9Y5I4 PCDC2_HUMAN Homo sapiens protocadherin alpha 13 (PCDHA13), transcript variant 1, mRNA. 670 Cadherin 6. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 45 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGCCCGCGCTGACGGCCACGG 0.697000 64 22 0 0 0.00188189 0 0 GPR123 84435 broad.mit.edu 37 10 134942980 134942980 + Nonsense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr10:134942980C>T uc001llw.3 + 15 3805 c.3805C>T c.(3805-3807)Cga>Tga p.R1269* GPR123_uc001llx.4_Nonsense_Mutation_p.R550* Q86SQ6 GP123_HUMAN Homo sapiens G protein-coupled receptor 123 (GPR123), mRNA. 550 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) CGGCAACATCCGAACGGGACC 0.612000 1 12 0 0 0.00244969 0 0 SAMD7 344658 broad.mit.edu 37 3 169656227 169656227 + Missense_Mutation SNP T A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr3:169656227T>A uc003fgd.3 + 8 1541 c.1274T>A c.(1273-1275)aTg>aAg p.M425K SAMD7_uc003fge.3_Missense_Mutation_p.M425K|SAMD7_uc011bpo.2_Missense_Mutation_p.M326K NM_182610 NP_872416 Q7Z3H4 SAMD7_HUMAN Homo sapiens sterile alpha motif domain containing 7 (SAMD7), mRNA. 425 NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 31 all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106) AGTGATACAATGAACATTTTT 0.388000 35 26 0 0 0.000878237 0 0 CARS2 79587 broad.mit.edu 37 13 111329397 111329397 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr13:111329397G>A uc001vrd.2 - 6 749 c.709C>T c.(709-711)Ccc>Tcc p.P237S CARS2_uc010tjm.1_Non-coding_Transcript NM_024537 NP_078813 Q9HA77 SYCM_HUMAN Homo sapiens cysteinyl-tRNA synthetase 2, mitochondrial (putative) (CARS2), nuclear gene encoding mitochondrial protein, mRNA. 237 cysteinyl-tRNA aminoacylation cytosol|mitochondrial matrix ATP binding|cysteine-tRNA ligase activity|metal ion binding autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|prostate(4)|skin(1) 13 all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148) BRCA - Breast invasive adenocarcinoma(86;0.163) L-Cysteine(DB00151) ACCTCCTGGGGTTTGGCCGCC 0.632000 37 23 0 0 0.00278032 0 0 NMNAT3 349565 broad.mit.edu 37 3 139297845 139297845 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr3:139297845C>T uc003etj.3 - 1 202 c.162G>A c.(160-162)ggG>ggA p.G54G NMNAT3_uc010hul.3_Intron|NMNAT3_uc003etk.3_Silent_p.G17G|NMNAT3_uc003etl.3_Non-coding_Transcript NM_178177 NP_835471 Q96T66 NMNA3_HUMAN Homo sapiens nicotinamide nucleotide adenylyltransferase 3 (NMNAT3), transcript variant 1, mRNA. 54 water-soluble vitamin metabolic process cytosol|mitochondrion ATP binding|nicotinamide-nucleotide adenylyltransferase activity|nicotinate-nucleotide adenylyltransferase activity endometrium(2)|kidney(1)|large_intestine(2)|lung(4) 9 GGTCTTTCTTCCCATAGGTGT 0.567000 23 19 0 0 0.00229938 0 0 CCR4 1233 broad.mit.edu 37 3 32995250 32995250 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr3:32995250G>A uc003cfg.1 + 1 504 c.336G>A c.(334-336)atG>atA p.M112I CCR4_uc021wuw.1_Missense_Mutation_p.M112I NM_005508 NP_005499 P51679 CCR4_HUMAN Homo sapiens chemokine (C-C motif) receptor 4 (CCR4), mRNA. 112 chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response integral to plasma membrane NS(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)|stomach(1) 16 TGTGCAAGATGATTTCCTGGA 0.478000 82 136 0 0 0.00361006 0 0 TEKT1 83659 broad.mit.edu 37 17 6704242 6704242 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr17:6704242G>A uc002gdt.3 - 6 983 c.873C>T c.(871-873)tcC>tcT p.S291S TEKT1_uc010vth.2_Silent_p.S145S NM_053285 NP_444515 Q969V4 TEKT1_HUMAN Homo sapiens tektin 1 (TEKT1), mRNA. 291 microtubule cytoskeleton organization cilium axoneme|flagellar axoneme|microtubule NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1) 20 Myeloproliferative disorder(207;0.0255) TTTTCTCCTGGGAAGCAATCT 0.502000 5 280 0 0 0.00361006 0 0 ADAMTS7 11173 broad.mit.edu 37 15 79064033 79064033 + Nonsense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr15:79064033C>T uc002bej.4 - 14 2481 c.2270G>A c.(2269-2271)tGg>tAg p.W757* ADAMTS7_uc010und.1_Intron|ADAMTS7_uc002bek.1_Nonsense_Mutation_p.W757* NM_014272 NP_055087 Q9UKP4 ATS7_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 7 (ADAMTS7), mRNA. 757 Spacer. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9) 54 GTCCCCGTTCCACTGGATGGT 0.627000 21 14 0 0 0.00121646 0 0 SCN8A 6334 broad.mit.edu 37 12 52174539 52174539 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr12:52174539G>A uc001ryw.3 + 20 4104 c.3926G>A c.(3925-3927)cGa>cAa p.R1309Q SCN8A_uc010snl.2_Intron|SCN8A_uc001rza.1_Intron NM_014191 NP_055006 Q9UQD0 SCN8A_HUMAN Homo sapiens sodium channel, voltage gated, type VIII, alpha subunit (SCN8A), transcript variant 1, mRNA. 1309 axon guidance|myelination|peripheral nervous system development cytoplasmic membrane-bounded vesicle|node of Ranvier ATP binding|voltage-gated sodium channel activity breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 55 BRCA - Breast invasive adenocarcinoma(357;0.181) Lamotrigine(DB00555) GCCTTATCACGATTTGAAGGG 0.458000 28 21 0 0 0.00332997 0 0 TINAGL1 64129 broad.mit.edu 37 1 32051447 32051447 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:32051447G>A uc001bta.3 + 9 1313 c.1187G>A c.(1186-1188)cGg>cAg p.R396Q TINAGL1_uc010ogj.2_Missense_Mutation_p.R365Q|TINAGL1_uc010ogk.1_Missense_Mutation_p.R396Q|TINAGL1_uc021oko.1_Missense_Mutation_p.R291Q NM_022164 NP_001191344 Q9GZM7 TINAL_HUMAN Homo sapiens tubulointerstitial nephritis antigen-like 1 (TINAGL1), transcript variant 1, mRNA. 396 endosome transport|immune response|proteolysis extracellular region cysteine-type endopeptidase activity|extracellular matrix structural constituent|polysaccharide binding|scavenger receptor activity p.R395C(1) breast(2)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(4)|prostate(1)|skin(3)|urinary_tract(1) 18 Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104) STAD - Stomach adenocarcinoma(196;0.0526)|READ - Rectum adenocarcinoma(331;0.145) AGATACCGCCGGCATGGGACC 0.612000 9 10 0 0 0.000673444 0 0 KCNA5 3741 broad.mit.edu 37 12 5155065 5155065 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr12:5155065G>A uc001qni.3 + 0 1981 c.1752G>A c.(1750-1752)gaG>gaA p.E584E NM_002234 NP_002225 P22460 KCNA5_HUMAN Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 5 (KCNA5), mRNA. 584 Golgi apparatus|voltage-gated potassium channel complex delayed rectifier potassium channel activity NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2) 52 GCCCCCTAGAGAAGTGTAACG 0.597000 23 23 0 0 0.00332997 0 0 ZNF562 54811 broad.mit.edu 37 19 9763879 9763879 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:9763879G>A uc002mly.3 - 5 1243 c.1027C>T c.(1027-1029)Ccc>Tcc p.P343S ZNF562_uc010xks.2_Missense_Mutation_p.P343S|ZNF562_uc002mlx.3_Missense_Mutation_p.P271S|ZNF562_uc010xkt.2_Missense_Mutation_p.P306S|ZNF562_uc010xku.2_Missense_Mutation_p.P274S|ZNF562_uc010xkv.1_Missense_Mutation_p.P342S|ZNF562_uc010xkw.1_Missense_Mutation_p.P227S NM_001130031 NP_001123504 Q6V9R5 ZN562_HUMAN Homo sapiens zinc finger protein 562 (ZNF562), transcript variant 1, mRNA. 343 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1) 17 CATTCATAGGGTTTTATTCCA 0.428000 66 36 0 0 0.00111076 0 0 RBM47 54502 broad.mit.edu 37 4 40440446 40440446 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr4:40440446G>A uc003gvc.2 - 3 1175 c.465C>T c.(463-465)atC>atT p.I155I RBM47_uc003gvd.2_Silent_p.I155I|RBM47_uc003gve.2_Non-coding_Transcript|RBM47_uc011bys.1_Silent_p.I117I|RBM47_uc003gvg.1_Silent_p.I155I NM_001098634 NP_001092104 A0AV96 RBM47_HUMAN Homo sapiens RNA binding motif protein 47 (RBM47), transcript variant 1, mRNA. 155 RRM 2. nucleus RNA binding|nucleotide binding breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 29 GGATCCCGCCGATGAAGAGGC 0.652000 26 28 0 0 0.00127121 0 0 SULT1A1 6817 broad.mit.edu 37 16 28618163 28618163 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr16:28618163G>A uc002dqn.3 - 8 1378 c.786C>T c.(784-786)tcC>tcT p.S262S NPIPL1_uc010vct.2_Intron|SULT1A1_uc002dqj.3_Silent_p.S171S|SULT1A1_uc002dqi.3_Silent_p.S171S|SULT1A1_uc002dqk.3_Silent_p.S171S|SULT1A1_uc002dql.3_Silent_p.S171S|SULT1A1_uc002dqm.3_Silent_p.S93S|SULT1A1_uc002dqp.3_Silent_p.S171S NM_177534 NP_803878 P50225 ST1A1_HUMAN Homo sapiens sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1 (SULT1A1), transcript variant 4, mRNA. 171 3'-phosphoadenosine 5'-phosphosulfate metabolic process|catecholamine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|xenobiotic metabolic process cytosol aryl sulfotransferase activity|flavonol 3-sulfotransferase activity endometrium(2)|kidney(7)|large_intestine(2)|lung(2)|ovary(1)|stomach(2) 16 GCTGGTACCAGGATCCGTAGG 0.582000 95 27 0 0 0.00327116 0 0 SGOL2 151246 broad.mit.edu 37 2 201436643 201436643 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:201436643C>T uc002uvw.2 + 6 1687 c.1574C>T c.(1573-1575)tCc>tTc p.S525F SGOL2_uc010zhd.1_Missense_Mutation_p.S525F|SGOL2_uc010zhe.1_Missense_Mutation_p.S525F NM_152524 NP_689737 Q562F6 SGOL2_HUMAN Homo sapiens shugoshin-like 2 (S. pombe) (SGOL2), transcript variant 1, mRNA. 525 cell division|mitotic prometaphase condensed chromosome kinetochore|cytosol|mitotic cohesin complex protein binding NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2) 46 GGTCAGAATTCCCTAACTTGT 0.323000 81 101 0 0 0.00361006 0 0 SCD5 79966 broad.mit.edu 37 4 83602042 83602042 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr4:83602042C>T uc003hna.2 - 2 707 c.387G>A c.(385-387)agG>agA p.R129R SCD5_uc003hnb.4_Silent_p.R129R NM_001037582 NP_001032671 Q86SK9 SCD5_HUMAN Homo sapiens stearoyl-CoA desaturase 5 (SCD5), transcript variant 1, mRNA. 129 fatty acid biosynthetic process endoplasmic reticulum membrane|integral to membrane iron ion binding|stearoyl-CoA 9-desaturase activity endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1) 13 Colorectal(4;0.0323)|Hepatocellular(203;0.115) CTCGGTGGTCCCTGGACCACT 0.587000 44 35 0 0 0.000814825 0 0 ECT2L 345930 broad.mit.edu 37 6 139186242 139186242 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr6:139186242C>T uc003qif.2 + 11 1726 c.1401C>T c.(1399-1401)acC>acT p.T467T ECT2L_uc021zfx.1_Silent_p.T467T|ECT2L_uc011edq.1_Silent_p.T398T NM_001077706 NP_001181966 Q008S8 ECT2L_HUMAN Homo sapiens epithelial cell transforming sequence 2 oncogene-like (ECT2L), transcript variant 1, mRNA. 467 regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(1) 30 TAGAAGAAACCTTGAAAACAG 0.483000 """N, Splice, Mis""" ETP ALL 7 31 0 0 0.00178596 0 0 PLXDC2 84898 broad.mit.edu 37 10 20500617 20500617 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr10:20500617C>T uc001iqg.1 + 9 1718 c.1081C>T c.(1081-1083)Cgt>Tgt p.R361C PLXDC2_uc001iqh.1_Missense_Mutation_p.R312C|PLXDC2_uc009xkc.1_Intron NM_032812 NP_116201 Q6UX71 PXDC2_HUMAN Homo sapiens plexin domain containing 2 (PLXDC2), mRNA. 361 PSI. 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 TGGATTTGATCGTCATCGGCA 0.438000 27 32 0 0 0.00195071 0 0 HPSE 10855 broad.mit.edu 37 4 84240599 84240600 + Missense_Mutation DNP GG AA AA TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr4:84240599_84240600GG>AA uc003hoj.4 - 2 495_496 c.396_397CC>TT c.(394-399)atccct>atTTct p.P133S HPSE_uc003hoi.3_Missense_Mutation_p.P133S|HPSE_uc011ccq.2_Non-coding_Transcript|HPSE_uc011ccr.2_Non-coding_Transcript|HPSE_uc011ccs.2_5'UTR|HPSE_uc003hok.4_Missense_Mutation_p.P133S|HPSE_uc011cct.2_Missense_Mutation_p.P133S|HPSE_uc021xpr.1_Missense_Mutation_p.P133S NM_001098540 NP_006656 Q9Y251 HPSE_HUMAN Homo sapiens heparanase (HPSE), transcript variant 2, mRNA. 133 carbohydrate metabolic process|cell adhesion|proteoglycan metabolic process extracellular region|lysosomal membrane|nucleus beta-glucuronidase activity|cation binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2) 20 Hepatocellular(203;0.114) COAD - Colon adenocarcinoma(81;0.141) Heparin(DB01109) ACATCAGGAGGGATGGATCCAT 0.426000 36 18 0 0 6.4e-05 0 0 FAM131B 9715 broad.mit.edu 37 7 143054043 143054043 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr7:143054043G>A uc010lpa.3 - 6 827 c.683C>T c.(682-684)tCg>tTg p.S228L FAM131B_uc010loz.3_Missense_Mutation_p.S168L|FAM131B_uc003wct.3_Missense_Mutation_p.S200L|FAM131B_uc003wcu.4_Missense_Mutation_p.S200L NM_001031690 NP_055505 Q86XD5 F131B_HUMAN Homo sapiens family with sequence similarity 131, member B (FAM131B), transcript variant a, mRNA. 200 breast(1)|endometrium(4)|large_intestine(3)|lung(13)|ovary(1)|skin(2) 24 Melanoma(164;0.205) GGCATCTGACGACCCCAGACA 0.552000 54 15 0 0 0.000422831 0 0 ATP10A 57194 broad.mit.edu 37 15 26026240 26026240 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr15:26026240G>A uc010ayu.3 - 1 686 c.580C>T c.(580-582)Cac>Tac p.H194Y NM_024490 NP_077816 O60312 AT10A_HUMAN Homo sapiens ATPase, class V, type 10A (ATP10A), mRNA. 194 ATP biosynthetic process|regulation of cell shape integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2) 103 all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125) all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244) GTCTCGATGTGGCATAGCCCG 0.592000 50 31 0 0 0.001512 0 0 CDH20 28316 broad.mit.edu 37 18 59166487 59166487 + Missense_Mutation SNP C G G TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr18:59166487C>G uc010dps.1 + 1 467 c.315C>G c.(313-315)atC>atG p.I105M CDH20_uc002lif.2_Missense_Mutation_p.I99M NM_031891 NP_114097 Q9HBT6 CAD20_HUMAN Homo sapiens cadherin 20, type 2 (CDH20), mRNA. 105 Cadherin 1. 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) GTGCTGGCATCGTGTTTACCA 0.517000 30 13 0 0 0.000422831 0 0 NCKAP5 344148 broad.mit.edu 37 2 133751795 133751795 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:133751795C>T uc002ttp.3 - 6 733 c.359G>A c.(358-360)cGa>cAa p.R120Q NCKAP5_uc002ttq.3_Missense_Mutation_p.R120Q|NCKAP5_uc002tts.1_Missense_Mutation_p.R95Q NM_207363 NP_997246 O14513 NCKP5_HUMAN Homo sapiens NCK-associated protein 5 (NCKAP5), transcript variant 1, mRNA. 120 protein binding NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 118 CAATAGATTTCGTACTGTTTC 0.348000 15 5 0 0 0.000602214 0 0 MAP4K2 5871 broad.mit.edu 37 11 64568600 64568600 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr11:64568600G>A uc001obh.3 - 7 605 c.513C>T c.(511-513)ttC>ttT p.F171F MAP4K2_uc001obi.3_Silent_p.F171F NM_004579 NP_004570 Q12851 M4K2_HUMAN Homo sapiens mitogen-activated protein kinase kinase kinase kinase 2 (MAP4K2), mRNA. 171 Protein kinase. activation of JUN kinase activity|immune response|positive regulation of JNK cascade|vesicle targeting Golgi membrane|basolateral plasma membrane|soluble fraction ATP binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine kinase activity|small GTPase regulator activity cervix(1)|lung(3)|ovary(1)|pancreas(1)|urinary_tract(2) 8 GAGTCCCAATGAAAGACCTCC 0.637000 16 29 0 0 0.00178596 0 0 OR2K2 26248 broad.mit.edu 37 9 114090351 114090351 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr9:114090351G>A uc011lwp.2 - 0 363 c.363C>T c.(361-363)gaC>gaT p.D121D NM_205859 NP_995581 Q8NGT1 OR2K2_HUMAN Homo sapiens olfactory receptor, family 2, subfamily K, member 2 (OR2K2), mRNA. 150 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2) 20 CCACATAACGGTCATATGCCA 0.532000 8 41 0 0 0.00170553 0 0 DUOXA2 405753 broad.mit.edu 37 15 45410015 45410015 + Nonsense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr15:45410015C>T uc001zuo.3 + 5 1152 c.871C>T c.(871-873)Cag>Tag p.Q291* DUOXA2_uc010beb.3_Non-coding_Transcript|DUOXA1_uc010uem.2_Intron|DUOXA1_uc001zup.3_Intron|DUOXA1_uc010bec.3_Intron NM_207581 NP_997464 Q1HG44 DOXA2_HUMAN Homo sapiens dual oxidase maturation factor 2 (DUOXA2), mRNA. 291 protein transport endoplasmic reticulum membrane|integral to membrane all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027) all cancers(107;2.88e-18)|GBM - Glioblastoma multiforme(94;3.95e-07)|COAD - Colon adenocarcinoma(120;0.0652)|Colorectal(133;0.0659) GGACTGCAGCCAGGAGAGAGG 0.612000 OREG0023102 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 67 45 0 0 0.00361006 0 0 SORCS3 22986 broad.mit.edu 37 10 106937871 106937871 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr10:106937871C>T uc001kyi.1 + 13 2176 c.1949C>T c.(1948-1950)tCg>tTg p.S650L SORCS3_uc010qqz.1_Intron NM_014978 NP_055793 Q9UPU3 SORC3_HUMAN Homo sapiens sortilin-related VPS10 domain containing receptor 3 (SORCS3), mRNA. 650 integral to membrane neuropeptide receptor activity autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 131 Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191) Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628) GGTTTCACTTCGGTTCCTCTC 0.473000 8 43 0 0 0.00361006 0 0 CFL1 1072 broad.mit.edu 37 11 65623156 65623156 + Missense_Mutation SNP G T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr11:65623156G>T uc001ofs.3 - 2 888 c.357C>A c.(355-357)agC>agA p.S119R CFL1_uc001oft.3_Missense_Mutation_p.S119R NM_005507 NP_005498 P23528 COF1_HUMAN Homo sapiens cofilin 1 (non-muscle) (CFL1), mRNA. 119 ADF-H. Rho protein signal transduction|actin cytoskeleton organization|anti-apoptosis|axon guidance|platelet activation|platelet degranulation|response to virus cytoplasm|cytoskeleton|nuclear matrix actin binding breast(1)|kidney(1)|large_intestine(2)|lung(2) 6 READ - Rectum adenocarcinoma(159;0.169) CGTCCTTGGAGCTGGCATAAA 0.577000 47 11 2.68362e-12 7.82097e-12 0.00136819 1 0 EPHB1 2047 broad.mit.edu 37 3 134885813 134885813 + Missense_Mutation SNP A T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr3:134885813A>T uc003eqt.3 + 8 2099 c.1724A>T c.(1723-1725)tAc>tTc p.Y575F EPHB1_uc003equ.3_Missense_Mutation_p.Y136F NM_004441 NP_004432 P54762 EPHB1_HUMAN Homo sapiens EPH receptor B1 (EPHB1), mRNA. 575 integral to plasma membrane ATP binding|ephrin receptor activity|protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2) 130 GAGGCTGTGTACAGCGATAAG 0.547000 160 46 0 0 0.00361006 0 0 SIK3 23387 broad.mit.edu 37 11 116824823 116824823 + Splice_Site SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr11:116824823C>T uc001ppy.3 - 3 253 c.217_splice c.e3-1 p.V73_splice SIK3_uc001ppz.3_Splice_Site|SIK3_uc001pqa.3_Splice_Site_p.V73_splice|Mir_548_uc021qqu.1_5'Flank NM_025164 NP_079440 Q9Y2K2 SIK3_HUMAN Homo sapiens SIK family kinase 3 (SIK3), mRNA. 73 Protein kinase. cytoplasm ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 57 GTCTCCATAACCTGGTGCAAA 0.368000 23 161 0 0 0.00361006 0 0 CCDC91 55297 broad.mit.edu 37 12 28412319 28412319 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr12:28412319G>A uc001riq.3 + 1 67 c.53G>A c.(52-54)gGa>gAa p.G18E CCDC91_uc001rio.3_5'UTR|CCDC91_uc009zjk.3_Non-coding_Transcript|CCDC91_uc001rip.1_Missense_Mutation_p.G18E NM_018318 NP_060788 Q7Z6B0 CCD91_HUMAN Homo sapiens coiled-coil domain containing 91 (CCDC91), mRNA. 18 protein transport Golgi apparatus|membrane NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|skin(1) 22 Acute lymphoblastic leukemia(23;0.00718)|all_hematologic(23;0.0113)|Lung SC(9;0.184) TTTGATGGTGGAAGTGGTGAA 0.398000 53 26 0 0 0.0024448 0 0 SLCO1B1 10599 broad.mit.edu 37 12 21353449 21353449 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr12:21353449C>T uc001req.4 + 8 1082 c.978C>T c.(976-978)ttC>ttT p.F326F NM_006446 NP_006437 Q9Y6L6 SO1B1_HUMAN Homo sapiens solute carrier organic anion transporter family, member 1B1 (SLCO1B1), mRNA. 326 bile acid metabolic process|sodium-independent organic anion transport basolateral plasma membrane|integral to plasma membrane|membrane fraction bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1) 70 Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175) CAGGTTTTTTCCAGTCTTTTA 0.274000 18 9 0 0 0.000274275 0 0 IL11 3589 broad.mit.edu 37 19 55879926 55879926 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:55879926G>A uc002qks.1 - 2 328 c.192C>T c.(190-192)ttC>ttT p.F64F IL11_uc010yfx.1_5'UTR NM_000641 NP_000632 P20809 IL11_HUMAN Homo sapiens interleukin 11 (IL11), mRNA. 64 B cell differentiation|fat cell differentiation|megakaryocyte differentiation|negative regulation of hormone secretion|platelet activation|positive regulation of MAPKKK cascade|positive regulation of cell proliferation|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of transcription from RNA polymerase II promoter extracellular space cytokine activity|growth factor activity|interleukin-11 receptor binding large_intestine(1)|skin(1) 2 Breast(117;0.191) Renal(1328;0.245) BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.044) Oprelvekin(DB00038) CGTCAGCTGGGAATTTGTCCC 0.667000 33 14 0 0 0.000422831 0 0 abParts 0 broad.mit.edu 37 22 23264834 23264834 + RNA SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr22:23264834G>A uc021wml.1 + 445 c.18303G>A Parts of antibodies, mostly variable regions. AGCCAACAAGGCCACACTGGT 0.632000 47 26 0 0 0.00106085 0 0 SH3BP4 23677 broad.mit.edu 37 2 235950772 235950772 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:235950772C>T uc002vvp.3 + 3 1752 c.1359C>T c.(1357-1359)gtC>gtT p.V453V SH3BP4_uc010fym.3_Silent_p.V453V|SH3BP4_uc002vvq.3_Silent_p.V453V NM_014521 NP_055336 Q9P0V3 SH3B4_HUMAN Homo sapiens SH3-domain binding protein 4 (SH3BP4), mRNA. 453 endocytosis clathrin-coated vesicle|coated pit|nucleus protein binding central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(6)|stomach(3)|urinary_tract(2) 44 Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419) Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237) ACGTGGCTGTCGTGGCCCATG 0.572000 20 5 0 0 0.00116845 0 0 HSP90AB3P 3327 broad.mit.edu 37 4 88814582 88814582 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr4:88814582G>A uc010iko.1 + 3 1209 c.1209G>A c.(1207-1209)ggG>ggA p.G403G Homo sapiens heat shock protein 90kDa alpha (cytosolic), class B member 3, pseudogene (HSP90AB3P), non-coding RNA. AGTTTGATGGGAAAAGCCTGG 0.498000 9 9 0 0 0.000274275 0 0 TAS1R2 80834 broad.mit.edu 37 1 19181252 19181252 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:19181252C>T uc001bba.1 - 2 713 c.712G>A c.(712-714)Gag>Aag p.E238K NM_152232 NP_689418 Q8TE23 TS1R2_HUMAN Homo sapiens taste receptor, type 1, member 2 (TAS1R2), mRNA. 238 detection of chemical stimulus involved in sensory perception of sweet taste plasma membrane protein heterodimerization activity|taste receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1) 45 Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) Aspartame(DB00168) GGCAGCGTCTCCTGGAAGGCG 0.642000 13 16 0 0 0.000422831 0 0 TAS2R41 259287 broad.mit.edu 37 7 143175862 143175862 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr7:143175862G>A uc003wdc.1 + 0 897 c.897G>A c.(895-897)ttG>ttA p.L299L LOC285965_uc003wda.3_Intron NM_176883 NP_795364 P59536 T2R41_HUMAN Homo sapiens taste receptor, type 2, member 41 (TAS2R41), mRNA. 299 sensory perception of taste integral to membrane G-protein coupled receptor activity endometrium(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(2)|skin(1) 18 Melanoma(164;0.15) AGCTCCTGTTGTTGGCAAGGG 0.537000 35 6 0 0 0.00307968 0 0 TEX13A 56157 broad.mit.edu 37 X 104464876 104464876 + Nonsense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chrX:104464876C>T uc004ema.3 - 1 318 c.206G>A c.(205-207)tGg>tAg p.W69* IL1RAPL2_uc004elz.1_Intron|TEX13A_uc004emb.3_Nonsense_Mutation_p.W69* NM_031274 NP_112564 Q9BXU3 TX13A_HUMAN Homo sapiens testis expressed 13A (TEX13A), mRNA. 69 intracellular zinc ion binding large_intestine(5)|ovary(2)|upper_aerodigestive_tract(1) 8 CAGGCTGCCCCAGGTGCAGGC 0.587000 4 12 0 0 0.000978159 0 0 GABRR1 2569 broad.mit.edu 37 6 89910970 89910970 + Missense_Mutation SNP C T T rs146686910 byFrequency TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr6:89910970C>T uc003pna.2 - 2 643 c.188G>A c.(187-189)cGa>cAa p.R63Q GABRR1_uc011dzv.1_Missense_Mutation_p.R40Q NM_002042 NP_002033 P24046 GBRR1_HUMAN Homo sapiens gamma-aminobutyric acid (GABA) receptor, rho 1 (GABRR1), mRNA. 63 gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(7)|lung(16)|pancreas(1)|prostate(1)|skin(1)|stomach(1) 35 all_cancers(76;9.49e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.46e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114) BRCA - Breast invasive adenocarcinoma(108;0.00917) Picrotoxin(DB00466) GTCAGGACTTCGTCTCAGAAT 0.453000 8 44 0 0 0.00361006 0 0 PER2 8864 broad.mit.edu 37 2 239186556 239186556 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:239186556G>A uc002vyc.3 - 1 259 c.22C>T c.(22-24)Ccg>Tcg p.P8S PER2_uc010znv.1_Missense_Mutation_p.P8S|PER2_uc010znw.1_Missense_Mutation_p.P8S|PER2_uc010fyx.1_Missense_Mutation_p.P8S NM_022817 NP_073728 O15055 PER2_HUMAN Homo sapiens period homolog 2 (Drosophila) (PER2), mRNA. 8 circadian rhythm|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus protein binding|signal transducer activity NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244) Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161) GGGCTGGGCGGAAATTCCGCG 0.607000 21 9 0 0 0.000442599 0 0 CCDC158 339965 broad.mit.edu 37 4 77305440 77305440 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr4:77305440C>T uc003hkb.4 - 4 680 c.527G>A c.(526-528)cGa>cAa p.R176Q CCDC158_uc003hkd.3_Missense_Mutation_p.R176Q NM_001042784 NP_001036249 Q5M9N0 CD158_HUMAN Homo sapiens coiled-coil domain containing 158 (CCDC158), mRNA. 176 breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1) 56 CATCATTTTTCGTAGTTGCTC 0.398000 43 39 0 0 0.0025221 0 0 TSPAN17 26262 broad.mit.edu 37 5 176084625 176084626 + Missense_Mutation DNP CC TT TT rs147674980 byFrequency TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr5:176084625_176084626CC>TT uc003met.3 + 8 1154_1155 c.925_926CC>TT c.(925-927)ccg>TTg p.P309L TSPAN17_uc003mes.3_3'UTR|TSPAN17_uc003meu.3_Missense_Mutation_p.P306L|TSPAN17_uc003mew.3_3'UTR NM_012171 NP_036303 Q96FV3 TSN17_HUMAN Homo sapiens tetraspanin 17 (TSPAN17), transcript variant 1, mRNA. 161 integral to membrane|ubiquitin ligase complex protein binding|ubiquitin-protein ligase activity endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|urinary_tract(1) 13 all_cancers(89;0.00141)|Renal(175;0.000269)|Lung NSC(126;0.00814)|all_lung(126;0.0133) Medulloblastoma(196;0.00498)|all_neural(177;0.0212) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) ggcccctggcccggccccaccc 0.535000 20 6 0 0 6.4e-05 0 0 OR2B3 442184 broad.mit.edu 37 6 29054742 29054742 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr6:29054742G>A uc003nlx.3 - 0 349 c.284C>T c.(283-285)gCt>gTt p.A95V NM_001005226 NP_001005226 Homo sapiens olfactory receptor, family 2, subfamily B, member 3 (OR2B3), mRNA. breast(1)|endometrium(1)|kidney(2)|lung(17)|prostate(1)|skin(2) 24 CACACAGCCAGCATAGCTGAT 0.453000 61 47 0 0 0.00361006 0 0 LRP1B 53353 broad.mit.edu 37 2 141709478 141709478 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:141709478G>A uc002tvj.1 - 18 3891 c.2919C>T c.(2917-2919)ttC>ttT p.F973F LRP1B_uc010fnl.1_Silent_p.F155F NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA. 973 LDL-receptor class A 6. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) TTTTGCATACGAATTGGGTTA 0.418000 TSP Lung(27;0.18) 40 22 0 0 0.00332997 0 0 GPX6 257202 broad.mit.edu 37 6 28483515 28483515 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr6:28483515G>A uc021yrx.1 - 0 56 c.6C>T c.(4-6)ttC>ttT p.F2F GPX6_uc010jrg.1_Non-coding_Transcript NM_182701 NP_874360 P59796 GPX6_HUMAN Homo sapiens glutathione peroxidase 6 (olfactory) (GPX6), mRNA. 2 response to oxidative stress extracellular region glutathione peroxidase activity NS(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 Glutathione(DB00143) GGAACTGCTGGAACATGGCTA 0.537000 25 18 0 0 0.00121646 0 0 ADAM30 11085 broad.mit.edu 37 1 120438567 120438567 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:120438567C>T uc001eij.3 - 0 581 c.393G>A c.(391-393)ggG>ggA p.G131G NM_021794 NP_068566 Q9UKF2 ADA30_HUMAN Homo sapiens ADAM metallopeptidase domain 30 (ADAM30), mRNA. 131 proteolysis integral to membrane metalloendopeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2) 38 all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234) all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138) Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117) CTCGGAGACCCCCCATGCATG 0.463000 553 169 0 0 0.00361006 0 0 APOB 338 broad.mit.edu 37 2 21227176 21227176 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:21227176C>T uc002red.3 - 27 12180 c.12052G>A c.(12052-12054)Gac>Aac p.D4018N NM_000384 NP_000375 P04114 APOB_HUMAN Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA. 4018 cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity p.D4017D(1) NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6) 305 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) TTAGAAAAGTCGTCATCTTCA 0.507000 157 269 0 0 0.00361006 0 0 NBAS 51594 broad.mit.edu 37 2 15307360 15307360 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:15307360G>A uc002rcc.1 - 51 6954 c.6928C>T c.(6928-6930)Cca>Tca p.P2310S NBAS_uc002rcb.1_Missense_Mutation_p.P150S|NBAS_uc010exl.1_Missense_Mutation_p.P1382S|NBAS_uc002rcd.1_Non-coding_Transcript NM_015909 NP_056993 A2RRP1 NBAS_HUMAN Homo sapiens neuroblastoma amplified sequence (NBAS), mRNA. 2310 NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3) 112 ACAATACGTGGATAGAAGGGA 0.547000 9 35 0 0 0.00327116 0 0 PRR12 57479 broad.mit.edu 37 19 50098089 50098089 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:50098089C>T uc002poo.4 + 3 497 c.497C>T c.(496-498)tCg>tTg p.S166L NM_020719 NP_065770 Q9ULL5 PRR12_HUMAN Homo sapiens proline rich 12 (PRR12), mRNA. 579 Pro-rich. DNA binding NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2) 11 all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887) OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132) CCAGTGCCCTCGTCCCTCAGC 0.672000 31 7 0 0 0.00198382 0 0 CENPB 1059 broad.mit.edu 37 20 3765728 3765728 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr20:3765728G>A uc002wjk.3 - 0 1610 c.1403C>T c.(1402-1404)tCg>tTg p.S468L CDC25B_uc010zqk.2_5'Flank|CDC25B_uc010zql.2_5'Flank|CDC25B_uc010zqm.2_5'Flank NM_001810 NP_001801 P07199 CENPB_HUMAN Homo sapiens centromere protein B, 80kDa (CENPB), mRNA. 468 regulation of transcription, DNA-dependent chromosome, centromeric region|nucleus chromatin binding|satellite DNA binding kidney(1)|large_intestine(2)|lung(4)|skin(1) 8 CAAGCCCTCCGAGGAGCTCTC 0.612000 19 15 0 0 0.000958276 0 0 PDIA2 64714 broad.mit.edu 37 16 336925 336925 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr16:336925G>A uc002cgn.1 + 14 2621 c.1513G>A c.(1513-1515)Gag>Aag p.E505K LUC7L_uc021szo.1_Intron|PDIA2_uc002cgo.1_Missense_Mutation_p.E505K|PDIA2_uc010bqt.1_Missense_Mutation_p.E350K NM_006849 NP_006840 Q13087 PDIA2_HUMAN Homo sapiens protein disulfide isomerase family A, member 2 (PDIA2), mRNA. 505 apoptosis|cell redox homeostasis|glycerol ether metabolic process|protein folding|protein retention in ER lumen|response to hypoxia endoplasmic reticulum lumen electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity|steroid binding breast(1)|central_nervous_system(4)|kidney(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 17 all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186) GCCCCCGGAGGAGCCAGCAGC 0.632000 6 11 0 0 0.00185496 0 0 SZT2 23334 broad.mit.edu 37 1 43893239 43893239 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:43893239C>T uc001cjk.2 + 24 3550 c.940C>T c.(940-942)Cgt>Tgt p.R314C NM_015284 NP_056099 Q5T011 SZT2_HUMAN Homo sapiens seizure threshold 2 homolog (mouse) (SZT2), mRNA. 1213 peroxisome NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 113 TCCACCATTCCGTCGAGACTT 0.557000 106 30 0 0 0.00327116 0 0 AMZ1 155185 broad.mit.edu 37 7 2749363 2749363 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr7:2749363G>A uc003smr.1 + 5 1222 c.861G>A c.(859-861)gaG>gaA p.E287E AMZ1_uc003sms.1_Missense_Mutation_p.G231S|AMZ1_uc011jwa.1_Silent_p.E36E NM_133463 NP_597720 Q400G9 AMZ1_HUMAN Homo sapiens archaelysin family metallopeptidase 1 (AMZ1), mRNA. 287 metallopeptidase activity|zinc ion binding breast(2)|kidney(1)|large_intestine(4)|lung(8)|skin(1) 16 Ovarian(82;0.0779) OV - Ovarian serous cystadenocarcinoma(56;5.03e-14) GCCTGGACGAGGCCCTGCGGC 0.667000 OREG0017838 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 27 19 0 0 0.00278032 0 0 CDS2 8760 broad.mit.edu 37 20 5154251 5154251 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr20:5154251C>T uc002wls.3 + 1 472 c.140C>T c.(139-141)tCt>tTt p.S47F CDS2_uc002wlr.2_5'UTR|CDS2_uc002wlw.3_Intron|CDS2_uc002wlv.3_5'Flank NM_003818 NP_003809 O95674 CDS2_HUMAN Homo sapiens CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 2 (CDS2), mRNA. 47 phospholipid biosynthetic process integral to membrane|mitochondrial inner membrane phosphatidate cytidylyltransferase activity cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|stomach(1) 14 CTGCCAGTCTCTGCAGATGAT 0.532000 75 114 0 0 0.00361006 0 0 RNF123 63891 broad.mit.edu 37 3 49753850 49753851 + Missense_Mutation DNP CC TT TT TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr3:49753850_49753851CC>TT uc003cxh.3 + 34 3526_3527 c.3440_3441CC>TT c.(3439-3441)ccc>cTT p.P1147L RNF123_uc003cxi.3_Non-coding_Transcript NM_022064 NP_071347 Q5XPI4 RN123_HUMAN Homo sapiens ring finger protein 123 (RNF123), mRNA. 1147 cytoplasm ligase activity|protein binding|zinc ion binding NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 38 BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255) GACCACTATCCCATTCTGGTGG 0.639000 20 127 0 0 6.4e-05 0 0 HRNR 388697 broad.mit.edu 37 1 152191013 152191013 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:152191013G>A uc001ezt.1 - 2 3168 c.3092C>T c.(3091-3093)tCa>tTa p.S1031L NM_001009931 NP_001009931 Q86YZ3 HORN_HUMAN Homo sapiens hornerin (HRNR), mRNA. 1031 keratinization calcium ion binding|protein binding autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6) 192 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) AGACCACCCTGAGCCAGACCT 0.597000 87 114 0 0 0.00361006 0 0 KIAA1958 158405 broad.mit.edu 37 9 115421780 115421780 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr9:115421780C>T uc011lwx.1 + 4 1841 c.1666C>T c.(1666-1668)Cgc>Tgc p.R556C KIAA1958_uc004bgf.1_Missense_Mutation_p.R528C NM_133465 NP_597722 Q8N8K9 K1958_HUMAN Homo sapiens KIAA1958 (KIAA1958), mRNA. 528 p.L555L(1) endometrium(1)|large_intestine(9)|lung(10)|prostate(2)|skin(3) 25 CGCGCGTTCTCGCAACATCGT 0.572000 2 12 0 0 0.00244969 0 0 IFNAR2 3455 broad.mit.edu 37 21 34635633 34635633 + Missense_Mutation SNP C A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr21:34635633C>A uc002yrd.3 + 8 1704 c.1376C>A c.(1375-1377)cCa>cAa p.P459Q IFNAR2_uc002yre.3_Missense_Mutation_p.P459Q|IFNAR2_uc002yrf.3_3'UTR|IFNAR2_uc002yri.1_Intron|IFNAR2_uc002yrh.1_Intron NM_207585 NP_997468 P48551 INAR2_HUMAN Homo sapiens interferon (alpha, beta and omega) receptor 2 (IFNAR2), transcript variant 1, mRNA. 459 JAK-STAT cascade|regulation of type I interferon-mediated signaling pathway|response to interferon-alpha|response to virus|type I interferon-mediated signaling pathway extracellular region|extracellular space|integral to plasma membrane protein kinase binding|type I interferon binding|type I interferon receptor activity cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1) 11 Interferon Alfa-2a, Recombinant(DB00034)|Interferon Alfa-2b, Recombinant(DB00105)|Interferon alfa-n1(DB00011)|Interferon alfa-n3(DB00018)|Interferon alfacon-1(DB00069)|Interferon beta-1b(DB00068)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022) ATGGTTGACCCAGAGGATCCT 0.512000 300 9 3.86212e-05 0.000111737 0.000673444 1 0 APLNR 187 broad.mit.edu 37 11 57004301 57004301 + Missense_Mutation SNP T C C TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr11:57004301T>C uc001njo.3 - 0 627 c.178A>G c.(178-180)Aag>Gag p.K60E APLNR_uc001njn.4_Non-coding_Transcript NM_005161 NP_005152 P35414 APJ_HUMAN Homo sapiens apelin receptor (APLNR), transcript variant 1, mRNA. 60 integral to plasma membrane G-protein coupled receptor activity p.E59E(1) breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 32 GAGCGCCTCTTCTCCCGGCTG 0.622000 14 25 0 0 0.000720815 0 0 APOB 338 broad.mit.edu 37 2 21231540 21231540 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:21231540G>A uc002red.3 - 25 8328 c.8200C>T c.(8200-8202)Cct>Tct p.P2734S NM_000384 NP_000375 P04114 APOB_HUMAN Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA. 2734 Missing (in Ref. 15; AAA51758). cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity p.P2734S(2) 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) TGAAGGTCAGGAACTTGAAAA 0.418000 217 326 0 0 0.00361006 0 0 TBX2 6909 broad.mit.edu 37 17 59485548 59485548 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr17:59485548C>T uc010wox.2 + 6 2101 c.1820C>T c.(1819-1821)tCc>tTc p.S607F TBX2_uc002ize.3_3'UTR|TBX2_uc002izg.3_Missense_Mutation_p.S453F NM_005994 NP_005985 Q13207 TBX2_HUMAN Homo sapiens T-box 2 (TBX2), mRNA. 607 cell aging|positive regulation of cell proliferation sequence-specific DNA binding endometrium(1)|lung(7)|ovary(1) 9 gGCTCCCTCTCCCGGAGCCCC 0.706000 18 8 0 0 0.000442599 0 0 HSCB 150274 broad.mit.edu 37 22 29139939 29139940 + Missense_Mutation DNP CC TT TT TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr22:29139939_29139940CC>TT uc003aea.3 + 1 347_348 c.306_307CC>TT c.(304-309)caccca>caTTca p.P103S CHEK2_uc003adt.1_5'Flank|CHEK2_uc003adu.1_5'Flank|CHEK2_uc003adv.1_5'Flank|CHEK2_uc003adx.1_5'Flank NM_172002 NP_741999 Q8IWL3 HSC20_HUMAN Homo sapiens HscB iron-sulfur cluster co-chaperone homolog (E. coli) (HSCB), mRNA. 103 J. iron-sulfur cluster assembly|protein folding mitochondrion chaperone binding|heat shock protein binding|metal ion binding p.H102D(1) kidney(1)|lung(2)|skin(1) 4 GTCTTGTCCACCCAGATTTCTT 0.485000 105 46 0 0 6.4e-05 0 0 BRPF3 27154 broad.mit.edu 37 6 36198362 36198362 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr6:36198362C>T uc003olv.4 + 12 3818 c.3594C>T c.(3592-3594)tcC>tcT p.S1198S BRPF3_uc010jwb.3_Silent_p.S928S|BRPF3_uc011dtj.2_Non-coding_Transcript|BRPF3_uc010jwc.3_Non-coding_Transcript|BRPF3_uc011dtk.2_Silent_p.S864S|BRPF3_uc010jwd.3_Silent_p.S100S NM_015695 NP_056510 Q9ULD4 BRPF3_HUMAN Homo sapiens bromodomain and PHD finger containing, 3 (BRPF3), mRNA. 1198 histone H3 acetylation|platelet activation|platelet degranulation MOZ/MORF histone acetyltransferase complex|cytosol|extracellular region protein binding|zinc ion binding breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2) 40 GGCCCCACTCCTTCGTCACTT 0.632000 25 20 0 0 0.00278032 0 0 PLBD2 196463 broad.mit.edu 37 12 113824828 113824829 + Missense_Mutation DNP GG AA AA TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr12:113824828_113824829GG>AA uc001tve.2 + 9 1408_1409 c.1373_1374GG>AA c.(1372-1374)cgg>cAA p.R458Q PLBD2_uc001tvf.2_Missense_Mutation_p.R426Q NM_173542 NP_775813 Q8NHP8 PLBL2_HUMAN Homo sapiens phospholipase B domain containing 2 (PLBD2), transcript variant 1, mRNA. 458 lipid catabolic process lysosomal lumen hydrolase activity breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1) 13 GGGAGCCCCCGGGCCCAGATCT 0.609000 41 39 0 0 6.4e-05 0 0 KCND2 3751 broad.mit.edu 37 7 119915781 119915781 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr7:119915781C>T uc003vjj.1 + 0 2060 c.1095C>T c.(1093-1095)atC>atT p.I365I NM_012281 NP_036413 Q9NZV8 KCND2_HUMAN Homo sapiens potassium voltage-gated channel, Shal-related subfamily, member 2 (KCND2), mRNA. 365 regulation of action potential|synaptic transmission cell surface|dendritic spine metal ion binding NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 75 all_neural(327;0.117) GGTATACCATCGTCACCATGA 0.507000 79 12 0 0 0.00244969 0 0 KRT74 121391 broad.mit.edu 37 12 52963677 52963677 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr12:52963677C>T uc001sap.1 - 5 1148 c.1100G>A c.(1099-1101)aGg>aAg p.R367K NM_175053 NP_778223 Q7RTS7 K2C74_HUMAN Homo sapiens keratin 74 (KRT74), mRNA. 367 Coil 2.|Rod. keratin filament structural molecule activity kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 28 BRCA - Breast invasive adenocarcinoma(357;0.191) ACACCGGATCCTCTGGATGAG 0.602000 58 23 0 0 0.00332997 0 0 DNAH10 196385 broad.mit.edu 37 12 124393903 124393903 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr12:124393903G>A uc001uft.4 + 56 9582 c.9557G>A c.(9556-9558)gGc>gAc p.G3186D NM_207437 NP_997320 Q8IVF4 DYH10_HUMAN Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA. 3186 Stalk (By similarity). microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346) ACAGCCAAGGGCGTGATGTCC 0.507000 15 6 0 0 0.00116845 0 0 CXCR3 2833 broad.mit.edu 37 X 70836566 70836566 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chrX:70836566C>T uc022bys.1 - 0 897 c.897G>A c.(895-897)cgG>cgA p.R299R BCYRN1_uc011mpt.1_Intron|CXCR3_uc004eaf.3_Silent_p.R252R|CXCR3_uc011mpx.2_Silent_p.R299R NM_001142797 NP_001136269 P49682 CXCR3_HUMAN Homo sapiens chemokine (C-X-C motif) receptor 3 (CXCR3), transcript variant 2, mRNA. 252 cell adhesion|cellular component movement|chemotaxis|elevation of cytosolic calcium ion concentration cytoplasm|integral to plasma membrane C-X-C chemokine receptor activity breast(1)|central_nervous_system(2)|large_intestine(2)|lung(3)|ovary(2) 10 Renal(35;0.156) GCCGCATGGCCCGCAGGCGCC 0.662000 1 5 0 0 0.00116845 0 0 L1TD1 54596 broad.mit.edu 37 1 62677026 62677026 + Silent SNP G C C TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:62677026G>C uc021ooc.1 + 4 3015 c.2580G>C c.(2578-2580)ctG>ctC p.L860L L1TD1_uc001dae.4_Silent_p.L860L NM_001164835 NP_061952 Q5T7N2 LITD1_HUMAN Homo sapiens LINE-1 type transposase domain containing 1 (L1TD1), transcript variant 1, mRNA. 860 L -> V (in dbSNP:rs11207934). breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 35 gagaattactggggaatAATA 0.368000 52 22 0 0 0.00278032 0 0 ATP2A1 487 broad.mit.edu 37 16 28914725 28914725 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr16:28914725G>A uc002dro.1 + 20 3128 c.2944G>A c.(2944-2946)Gaa>Aaa p.E982K NPIPL1_uc010vct.2_Intron|ATP2A1_uc002drn.1_Missense_Mutation_p.E982K|ATP2A1_uc002drp.1_Missense_Mutation_p.E857K NM_173201 NP_775293 O14983 AT2A1_HUMAN Homo sapiens ATPase, Ca++ transporting, cardiac muscle, fast twitch 1 (ATP2A1), transcript variant b, mRNA. 982 ATP biosynthetic process|apoptosis in response to endoplasmic reticulum stress|apoptotic mitochondrial changes|calcium ion import|elevation of endoplasmic reticulum calcium ion concentration|elevation of mitochondrial calcium ion concentration|maintenance of mitochondrion location|negative regulation of striated muscle contraction|platelet activation|positive regulation of fast-twitch skeletal muscle fiber contraction|reduction of endoplasmic reticulum calcium ion concentration|relaxation of skeletal muscle|response to endoplasmic reticulum stress ER-Golgi intermediate compartment|H zone|I band|endoplasmic reticulum membrane|microsome|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum|sarcoplasmic reticulum membrane ATP binding|calcium ion binding|calcium-transporting ATPase activity|protein homodimerization activity p.D981D(1) breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2) 38 TGGGCTCGACGAAATCCTCAA 0.612000 70 21 0 0 0.00188189 0 0 CORO7-PAM16 100529144 broad.mit.edu 37 16 4411374 4411374 + Missense_Mutation SNP G A A rs147901888 TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr16:4411374G>A uc002cwf.3 - 16 2118 c.1675C>T c.(1675-1677)Cgc>Tgc p.R559C CORO7-PAM16_uc002cwe.3_Non-coding_Transcript|CORO7-PAM16_uc002cwg.4_Missense_Mutation_p.R339C|CORO7-PAM16_uc002cwh.4_Missense_Mutation_p.R559C|CORO7-PAM16_uc010uxh.2_Missense_Mutation_p.R541C|CORO7-PAM16_uc010uxi.2_Missense_Mutation_p.R474C|CORO7-PAM16_uc002cwi.1_Missense_Mutation_p.R339C|CORO7-PAM16_uc010uxj.1_Non-coding_Transcript NM_001201479 NP_001188408 Homo sapiens CORO7-PAM16 readthrough (CORO7-PAM16), mRNA. ACAGCGAGGCGATGGGGGTCA 0.667000 48 16 0 0 0.000958276 0 0 SGK223 157285 broad.mit.edu 37 8 8234162 8234162 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr8:8234162G>A uc003wsh.4 - 1 1757 c.1757C>T c.(1756-1758)cCa>cTa p.P586L NM_001080826 NP_001074295 Q86YV5 SG223_HUMAN Homo sapiens homolog of rat pragma of Rnd2 (SGK223), mRNA. 586 ATP binding|non-membrane spanning protein tyrosine kinase activity ACCTTGGGATGGAGGCTGGGG 0.677000 10 17 0 0 0.00152264 0 0 DYNC2H1 79659 broad.mit.edu 37 11 103026069 103026069 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr11:103026069C>T uc001phn.1 + 24 3727 c.3583C>T c.(3583-3585)Cct>Tct p.P1195S DYNC2H1_uc009yxe.1_Intron|DYNC2H1_uc001pho.2_Missense_Mutation_p.P1195S NM_001080463 NP_001073932 Q8NCM8 DYHC2_HUMAN Homo sapiens dynein, cytoplasmic 2, heavy chain 1 (DYNC2H1), transcript variant 2, mRNA. 1195 Stem (By similarity). Golgi organization|cell projection organization|microtubule-based movement|multicellular organismal development Golgi apparatus|cilium axoneme|dynein complex|microtubule|plasma membrane ATP binding|ATPase activity|microtubule motor activity NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2) 33 Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348) BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785) GATCGTAATTCCTATCTTGAA 0.333000 3 18 0 0 0.000566183 0 0 ACACB 32 broad.mit.edu 37 12 109692107 109692107 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr12:109692107C>T uc001tob.3 + 43 6253 c.6134C>T c.(6133-6135)cCc>cTc p.P2045L ACACB_uc001toc.3_Missense_Mutation_p.P2045L|ACACB_uc010sxl.1_Non-coding_Transcript|ACACB_uc001tod.3_Non-coding_Transcript|ACACB_uc010sxm.2_Missense_Mutation_p.P711L NM_001093 NP_001084 O00763 ACACB_HUMAN Homo sapiens acetyl-CoA carboxylase beta (ACACB), mRNA. 2045 Carboxyltransferase. acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation Golgi apparatus|cytosol|endomembrane system|membrane ATP binding|acetyl-CoA carboxylase activity|biotin carboxylase activity|metal ion binding|protein binding NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 Biotin(DB00121) CCCTACGACCCCCGGTGGATG 0.493000 62 75 0 0 0.00361006 0 0 THSD7B 80731 broad.mit.edu 37 2 137814638 137814638 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:137814638G>A uc002tva.1 + 1 695 c.695G>A c.(694-696)gGa>gAa p.G232E THSD7B_uc010zbj.1_Non-coding_Transcript|THSD7B_uc002tvb.3_Missense_Mutation_p.G122E NM_001080427 NP_001073896 Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA. NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 134 BRCA - Breast invasive adenocarcinoma(221;0.19) AATCCAAGCGGAAGAACTGTT 0.393000 101 65 0 0 0.00361006 0 0 EPG5 57724 broad.mit.edu 37 18 43445620 43445620 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr18:43445620C>T uc002lbm.3 - 38 6826 c.6726G>A c.(6724-6726)atG>atA p.M2242I EPG5_uc010xcr.1_Non-coding_Transcript|EPG5_uc010xcs.1_Non-coding_Transcript|EPG5_uc010xcq.1_Missense_Mutation_p.M796I|EPG5_uc002lbn.2_Missense_Mutation_p.M1117I NM_020964 NP_066015 Q9HCE0 EPG5_HUMAN Homo sapiens ectopic P-granules autophagy protein 5 homolog (C. elegans) (EPG5), mRNA. 2242 autophagy NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 95 AGAGCTTAGACATTTCCTGTT 0.438000 48 41 0 0 0.00148497 0 0 CD163L1 283316 broad.mit.edu 37 12 7528454 7528454 + Missense_Mutation SNP G C C TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr12:7528454G>C uc010sge.2 - 9 2584 c.2558C>G c.(2557-2559)tCt>tGt p.S853C CD163L1_uc001qsy.3_Missense_Mutation_p.S843C NM_174941 NP_777601 Q9NR16 C163B_HUMAN Homo sapiens CD163 molecule-like 1 (CD163L1), mRNA. 843 SRCR 8. extracellular region|integral to membrane|plasma membrane scavenger receptor activity breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4) 96 CACAGAAAGAGATATGGCATC 0.458000 27 44 0 0 0.00361006 0 0 HSPA9 3313 broad.mit.edu 37 5 137893590 137893590 + Missense_Mutation SNP G C C TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr5:137893590G>C uc003ldf.3 - 12 1912 c.1601C>G c.(1600-1602)gCt>gGt p.A534G HSPA9_uc011cyw.2_Intron NM_004134 NP_004125 P38646 GRP75_HUMAN Homo sapiens heat shock 70kDa protein 9 (mortalin) (HSPA9), nuclear gene encoding mitochondrial protein, mRNA. 534 anti-apoptosis|protein folding cell surface|mitochondrial nucleoid ATP binding|unfolded protein binding breast(2)|endometrium(1)|kidney(4)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(1) 28 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325) TTTATCTTTAGCAGAAACATG 0.428000 74 20 0 0 0.00121646 0 0 IFNAR2 3455 broad.mit.edu 37 21 34635104 34635104 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr21:34635104C>T uc002yrd.3 + 8 1175 c.847C>T c.(847-849)Cat>Tat p.H283Y IFNAR2_uc002yre.3_Missense_Mutation_p.H283Y|IFNAR2_uc002yrf.3_Missense_Mutation_p.S239L|IFNAR2_uc002yri.1_Intron|IFNAR2_uc002yrh.1_Intron NM_207585 NP_997468 P48551 INAR2_HUMAN Homo sapiens interferon (alpha, beta and omega) receptor 2 (IFNAR2), transcript variant 1, mRNA. 283 JAK-STAT cascade|regulation of type I interferon-mediated signaling pathway|response to interferon-alpha|response to virus|type I interferon-mediated signaling pathway extracellular region|extracellular space|integral to plasma membrane protein kinase binding|type I interferon binding|type I interferon receptor activity cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1) 11 Interferon Alfa-2a, Recombinant(DB00034)|Interferon Alfa-2b, Recombinant(DB00105)|Interferon alfa-n1(DB00011)|Interferon alfa-n3(DB00018)|Interferon alfacon-1(DB00069)|Interferon beta-1b(DB00068)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022) TAAGAATTTTCATAACTTTTT 0.373000 50 36 0 0 0.00148497 0 0 DEPDC4 120863 broad.mit.edu 37 12 100657659 100657659 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr12:100657659G>A uc009ztv.1 - 1 173 c.170C>T c.(169-171)cCt>cTt p.P57L DEPDC4_uc001thh.1_Non-coding_Transcript|DEPDC4_uc001thi.3_Missense_Mutation_p.P57L|DEPDC4_uc001thj.1_Intron|DEPDC4_uc001thk.1_Intron|DEPDC4_uc001thl.1_Intron NM_152317 NP_689530 Q8N2C3 DEPD4_HUMAN Homo sapiens DEP domain containing 4 (DEPDC4), mRNA. 57 intracellular signal transduction p.P57S(1) NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1)|urinary_tract(1) 15 AGCTTGAAAAGGACCAGAGCA 0.338000 23 27 0 0 0.00178596 0 0 MFSD4 148808 broad.mit.edu 37 1 205549071 205549071 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:205549071C>T uc001hcv.4 + 1 509 c.423C>T c.(421-423)ttC>ttT p.F141F MFSD4_uc010prk.2_Silent_p.F141F|MFSD4_uc010prl.2_Non-coding_Transcript|MFSD4_uc010prm.2_Silent_p.F86F NM_181644 NP_857595 Q8N468 MFSD4_HUMAN Homo sapiens major facilitator superfamily domain containing 4 (MFSD4), mRNA. 141 transmembrane transport integral to membrane central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 Breast(84;0.07) BRCA - Breast invasive adenocarcinoma(75;0.0908) CGGCCGTCTTCCTCCAGGTAA 0.672000 4 15 0 0 0.000422831 0 0 ANKDD1A 348094 broad.mit.edu 37 15 65208001 65208001 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr15:65208001C>T uc002aoa.3 + 1 69 c.40C>T c.(40-42)Cct>Tct p.P14S ANKDD1A_uc002anx.1_Missense_Mutation_p.P14S|ANKDD1A_uc002any.3_5'UTR|ANKDD1A_uc002anz.3_Intron|ANKDD1A_uc002aob.3_5'UTR NM_182703 NP_874362 Q495B1 AKD1A_HUMAN Homo sapiens ankyrin repeat and death domain containing 1A (ANKDD1A), mRNA. 14 signal transduction NS(1)|endometrium(1)|large_intestine(10)|liver(2)|lung(4)|ovary(1)|prostate(2) 21 CACAGTGCTTCCTCTGGAGAG 0.577000 27 33 0 0 0.00128727 0 0 ADAM18 8749 broad.mit.edu 37 8 39564414 39564414 + Nonsense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr8:39564414C>T uc003xni.3 + 17 2063 c.2008C>T c.(2008-2010)Cag>Tag p.Q670* ADAM18_uc010lww.3_Non-coding_Transcript|ADAM18_uc010lwx.3_Nonsense_Mutation_p.Q646* NM_014237 NP_055052 Q9Y3Q7 ADA18_HUMAN Homo sapiens ADAM metallopeptidase domain 18 (ADAM18), transcript variant 1, mRNA. 670 cell differentiation|multicellular organismal development|proteolysis|spermatogenesis integral to membrane|membrane fraction metalloendopeptidase activity|zinc ion binding NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3) 71 all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112) LUSC - Lung squamous cell carcinoma(45;0.000199) TGGAAATTTTCAGAAATCTGG 0.328000 51 38 0 0 0.000953801 0 0 NAV3 89795 broad.mit.edu 37 12 78573391 78573391 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr12:78573391G>A uc001syp.3 + 28 5619 c.5446G>A c.(5446-5448)Gat>Aat p.D1816N NAV3_uc001syo.3_Missense_Mutation_p.D1794N|NAV3_uc010sub.2_Missense_Mutation_p.D1273N|NAV3_uc009zsf.3_Missense_Mutation_p.D625N NM_014903 NP_055718 Q8IVL0 NAV3_HUMAN Homo sapiens neuron navigator 3 (NAV3), mRNA. 1816 nuclear outer membrane ATP binding|nucleoside-triphosphatase activity p.D1794Y(1) NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1) 236 AAAATTAACGGATATTCGGCT 0.463000 HNSCC(70;0.22) 60 31 0 0 0.00127121 0 0 COL12A1 1303 broad.mit.edu 37 6 75855928 75855928 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr6:75855928C>T uc021zbv.1 - 22 4485 c.4450G>A c.(4450-4452)Gat>Aat p.D1484N COL12A1_uc021zbw.1_Missense_Mutation_p.D320N|COL12A1_uc003phs.3_Missense_Mutation_p.D1484N|COL12A1_uc003pht.3_Missense_Mutation_p.D320N NM_004370 NP_004361 Q99715 COCA1_HUMAN Homo sapiens collagen, type XII, alpha 1 (COL12A1), transcript variant long, mRNA. 1484 Fibronectin type-III 10. cell adhesion|collagen fibril organization|skeletal system development collagen type XII|extracellular space extracellular matrix structural constituent conferring tensile strength breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2) 169 GGGCCAACATCATAAATATTC 0.453000 6 24 0 0 0.00395357 0 0 EMILIN2 84034 broad.mit.edu 37 18 2892007 2892007 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr18:2892007G>A uc002kln.3 + 3 2041 c.1882G>A c.(1882-1884)Gaa>Aaa p.E628K NM_032048 NP_114437 Q9BXX0 EMIL2_HUMAN Homo sapiens elastin microfibril interfacer 2 (EMILIN2), mRNA. 628 cell adhesion collagen extracellular matrix constituent conferring elasticity|protein binding p.E628K(2) breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4) 48 READ - Rectum adenocarcinoma(2;0.1) TCTTCAAAAGGAAATGAGCAA 0.438000 7 21 0 0 0.00106085 0 0 SLC12A8 84561 broad.mit.edu 37 3 124906250 124906251 + Missense_Mutation DNP CC AT AT TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr3:124906250_124906251CC>AT uc003ehw.4 - 3 377_378 c.307_308GG>AT c.(307-309)ggc>ATc p.G103I SLC12A8_uc003ehv.4_Missense_Mutation_p.G74I|SLC12A8_uc010hrz.1_5'UTR NM_024628 NP_078904 A0AV02 S12A8_HUMAN Homo sapiens solute carrier family 12 (potassium/chloride transporters), member 8 (SLC12A8), transcript variant 1, mRNA. 74 potassium ion transport integral to membrane symporter activity endometrium(2)|kidney(2)|lung(12) 16 CAGGAACATGCCCAGGAGCACT 0.629000 20 17 0 0 6.4e-05 0 0 TRRAP 8295 broad.mit.edu 37 7 98575900 98575900 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr7:98575900C>T uc003upp.3 + 55 8640 c.8431C>T c.(8431-8433)Cct>Tct p.P2811S TRRAP_uc011kis.2_Missense_Mutation_p.P2793S|TRRAP_uc003upr.3_Missense_Mutation_p.P2510S NM_001244580 NP_001231509 Q9Y4A5 TRRAP_HUMAN Homo sapiens transformation/transcription domain-associated protein (TRRAP), transcript variant 1, mRNA. 2811 FAT. histone H2A acetylation|histone H4 acetylation|histone deubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2) 176 all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274) STAD - Stomach adenocarcinoma(171;0.215) TAACGCCTCCCCTGCTATTTT 0.418000 119 20 0 0 0.00121646 0 0 NPAT 4863 broad.mit.edu 37 11 108031638 108031638 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr11:108031638G>A uc001pjz.4 - 16 4277 c.4175C>T c.(4174-4176)tCa>tTa p.S1392L NPAT_uc010rvv.2_Missense_Mutation_p.S448L NM_002519 NP_002510 Q14207 NPAT_HUMAN Homo sapiens nuclear protein, ataxia-telangiectasia locus (NPAT), mRNA. 1392 positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle Cajal body protein C-terminus binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(21)|ovary(2)|prostate(2)|skin(5) 46 all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116) TGGTATTGATGAATTTGTAAG 0.338000 0 24 0 0 0.00395357 0 0 TMEM244 253582 broad.mit.edu 37 6 130164701 130164701 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr6:130164701G>A uc003qbs.3 - 2 250 c.167C>T c.(166-168)cCc>cTc p.P56L ARHGAP18_uc021zfe.1_Intron NM_001010876 NP_001010876 Q5VVB8 CF191_HUMAN Homo sapiens chromosome 6 open reading frame 191 (C6orf191), mRNA. 56 integral to membrane GAGCCATGAGGGATTTGTTTT 0.303000 9 62 0 0 0.00361006 0 0 MUC5B 727897 broad.mit.edu 37 11 1272721 1272721 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr11:1272721C>T uc001lta.3 + 30 14670 c.14611C>T c.(14611-14613)Ctg>Ttg p.L4871L NM_002458 NP_002449 Q9HC84 MUC5B_HUMAN Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA. 4871 23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich. cell adhesion extracellular region extracellular matrix structural constituent|protein binding cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1) 137 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) CTCCTCCACTCTGGGAACAGC 0.657000 13 11 0 0 0.000978159 0 0 PIK3R5 23533 broad.mit.edu 37 17 8814745 8814745 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr17:8814745C>T uc002glt.3 - 1 134 c.67G>A c.(67-69)Gga>Aga p.G23R PIK3R5_uc010vuz.2_Missense_Mutation_p.G23R|PIK3R5_uc021tqc.1_5'UTR|PIK3R5_uc010cob.2_Intron|PIK3R5_uc010coa.2_5'UTR|PIK3R5_uc002glu.4_5'UTR NM_014308 NP_001238784 Q8WYR1 PI3R5_HUMAN Homo sapiens phosphoinositide-3-kinase, regulatory subunit 5 (PIK3R5), transcript variant 2, mRNA. 23 platelet activation cytosol|membrane|nucleus breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1) 34 AGGCTGAGTCCATGCAGGCAG 0.682000 7 88 0 0 0.00361006 0 0 SLCO6A1 133482 broad.mit.edu 37 5 101735366 101735366 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr5:101735366C>T uc003knn.3 - 9 1879 c.1707G>A c.(1705-1707)ggG>ggA p.G569G SLCO6A1_uc003kno.3_Silent_p.G316G|SLCO6A1_uc003knp.3_Silent_p.G569G|SLCO6A1_uc003knq.3_Silent_p.G507G NM_173488 NP_775759 Q86UG4 SO6A1_HUMAN Homo sapiens solute carrier organic anion transporter family, member 6A1 (SLCO6A1), mRNA. 569 integral to membrane|plasma membrane transporter activity p.G569G(2) 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) CATCACATTTCCCGGGTCTGG 0.368000 32 40 0 0 0.0025221 0 0 UPK1A 11045 broad.mit.edu 37 19 36168744 36168744 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:36168744G>A uc010eeh.3 + 6 777 c.777G>A c.(775-777)tcG>tcA p.S259S UPK1A_uc002oaw.3_Missense_Mutation_p.D227N O00322 UPK1A_HUMAN Homo sapiens uroplakin 1A (UPK1A), mRNA. 0 epithelial cell differentiation|protein oligomerization endoplasmic reticulum|integral to membrane monosaccharide binding|protein homodimerization activity breast(1)|large_intestine(4)|lung(2)|stomach(2) 9 all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) CCACGCCATCGACAGCTACAC 0.637000 16 6 0 0 0.00198382 0 0 TMC5 79838 broad.mit.edu 37 16 19451763 19451763 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr16:19451763C>T uc002dgc.4 + 2 1152 c.403C>T c.(403-405)Cct>Tct p.P135S TMC5_uc010vaq.2_Missense_Mutation_p.P135S|TMC5_uc002dgb.4_Missense_Mutation_p.P135S|TMC5_uc010var.2_Missense_Mutation_p.P135S NM_001105248 NP_001098718 Q6UXY8 TMC5_HUMAN Homo sapiens transmembrane channel-like 5 (TMC5), transcript variant 1, mRNA. 135 integral to membrane NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 31 TCAACGAAATCCTGATTTTGC 0.498000 80 128 0 0 0.00361006 0 0 PEBP4 157310 broad.mit.edu 37 8 22675180 22675180 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr8:22675180G>A uc003xcn.1 - 3 419 c.327C>T c.(325-327)ttC>ttT p.F109F NM_144962 NP_659399 Q96S96 PEBP4_HUMAN Homo sapiens phosphatidylethanolamine-binding protein 4 (PEBP4), mRNA. 109 lysosome breast(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)|stomach(2) 10 Prostate(55;0.0453)|Breast(100;0.103) Colorectal(74;0.0434)|COAD - Colon adenocarcinoma(73;0.124) AATGTCTCCAGAATCTCTGTC 0.483000 42 57 0 0 0.00361006 0 0 PTPRZ1 5803 broad.mit.edu 37 7 121612675 121612675 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr7:121612675C>T uc003vjy.3 + 3 780 c.385C>T c.(385-387)Cac>Tac p.H129Y PTPRZ1_uc011knt.2_Missense_Mutation_p.H129Y|PTPRZ1_uc003vjz.3_Missense_Mutation_p.H129Y NM_002851 NP_002842 P23471 PTPRZ_HUMAN Homo sapiens protein tyrosine phosphatase, receptor-type, Z polypeptide 1 (PTPRZ1), transcript variant 1, mRNA. 129 Alpha-carbonic anhydrase. central nervous system development integral to plasma membrane protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2) 106 GATAACTTTTCACTGGGGAAA 0.363000 108 62 0 0 0.00361006 0 0 NLRP13 126204 broad.mit.edu 37 19 56436372 56436372 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:56436372G>A uc010ygg.2 - 1 374 c.349C>T c.(349-351)Cca>Tca p.P117S NM_176810 NP_789780 Q86W25 NAL13_HUMAN Homo sapiens NLR family, pyrin domain containing 13 (NLRP13), mRNA. 117 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) TCCTGGGTTGGATCTTGCAGC 0.443000 32 38 0 0 0.00361006 0 0 DHX57 90957 broad.mit.edu 37 2 39029995 39029995 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:39029995G>A uc002rrf.3 - 22 3978 c.3879C>T c.(3877-3879)ttC>ttT p.F1293F DHX57_uc002rrd.4_Silent_p.F632F|DHX57_uc002rre.3_Silent_p.F726F NM_198963 NP_945314 Q6P158 DHX57_HUMAN Homo sapiens DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57 (DHX57), mRNA. 1293 ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 62 all_hematologic(82;0.248) AGTCTCGGATGAATACTCGAC 0.483000 57 81 0 0 0.00361006 0 0 ODAM 54959 broad.mit.edu 37 4 71068511 71068511 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr4:71068511G>A uc003hfc.3 + 8 704 c.687G>A c.(685-687)gcG>gcA p.A229A NM_017855 NP_060325 A1E959 ODAM_HUMAN Homo sapiens odontogenic, ameloblast asssociated (ODAM), mRNA. 229 biomineral tissue development|odontogenesis of dentine-containing tooth fibril NS(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(8)|ovary(3)|skin(2) 20 AAAAAGAAGCGATCAACTTTA 0.388000 20 7 0 0 0.00198382 0 0 CWH43 80157 broad.mit.edu 37 4 49019273 49019273 + Nonsense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr4:49019273G>A uc003gyv.3 + 8 1376 c.1194G>A c.(1192-1194)tgG>tgA p.W398* CWH43_uc011bzl.2_Nonsense_Mutation_p.W371* NM_025087 NP_079363 Q9H720 PG2IP_HUMAN Homo sapiens cell wall biogenesis 43 C-terminal homolog (S. cerevisiae) (CWH43), mRNA. 398 GPI anchor biosynthetic process integral to membrane cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1) 43 TAGTTCTGTGGCTGCTTGTTG 0.358000 28 27 0 0 0.0024448 0 0 PRAM1 84106 broad.mit.edu 37 19 8563512 8563512 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:8563512G>A uc002mkd.3 - 1 1243 c.1180C>T c.(1180-1182)Cct>Tct p.P394S NM_032152 NP_115528 Q96QH2 PRAM_HUMAN Homo sapiens PML-RARA regulated adaptor molecule 1 (PRAM1), mRNA. 442 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 ACGGCCGCAGGCAGTGAGCTC 0.672000 8 19 0 0 0.00188189 0 0 STOX1 219736 broad.mit.edu 37 10 70645751 70645751 + Silent SNP T C C TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr10:70645751T>C uc001jos.2 + 2 2286 c.2199T>C c.(2197-2199)agT>agC p.S733S STOX1_uc001joq.3_Silent_p.S623S|STOX1_uc001jor.3_Intron|STOX1_uc009xpy.3_Intron|STOX1_uc021prw.1_Silent_p.S623S NM_001130161 NP_689922 Q6ZVD7 STOX1_HUMAN Homo sapiens storkhead box 1 (STOX1), transcript variant 2, mRNA. 733 cytoplasm|nucleolus DNA binding breast(5)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|prostate(1)|skin(3) 28 GTGCCTGTAGTTCATTATATC 0.453000 39 43 0 0 0.00285205 0 0 PPP1R3A 5506 broad.mit.edu 37 7 113519373 113519373 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr7:113519373C>T uc010ljy.1 - 3 1805 c.1774G>A c.(1774-1776)Gaa>Aaa p.E592K NM_002711 NP_002702 Q16821 PPR3A_HUMAN Homo sapiens protein phosphatase 1, regulatory subunit 3A (PPP1R3A), mRNA. 592 glycogen metabolic process integral to membrane NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2) 121 ACAGCTTCTTCCCAACTTAAA 0.468000 115 21 0 0 0.00278032 0 0 PIR 8544 broad.mit.edu 37 X 15477785 15477785 + Silent SNP A G G TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chrX:15477785A>G uc004cwu.3 - 3 753 c.268T>C c.(268-270)Ttg>Ctg p.L90L FIGF_uc022bth.1_Non-coding_Transcript|PIR_uc004cwv.3_Silent_p.L90L NM_003662 NP_003653 O00625 PIR_HUMAN Homo sapiens pirin (iron-binding nuclear protein) (PIR), transcript variant 1, mRNA. 90 transcription from RNA polymerase II promoter cytoplasm|nucleus metal ion binding|protein binding|quercetin 2,3-dioxygenase activity|transcription cofactor activity p.D89H(1) endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 9 Hepatocellular(33;0.183) CATACCTGCAAATCTCCTGGG 0.483000 17 118 0 0 0.00361006 0 0 TIE1 7075 broad.mit.edu 37 1 43774700 43774700 + Silent SNP C T T rs150072485 TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:43774700C>T uc001ciu.3 + 7 1263 c.1086C>T c.(1084-1086)ttC>ttT p.F362F TIE1_uc010okd.2_Silent_p.F362F|TIE1_uc010oke.2_Silent_p.F317F|TIE1_uc009vwq.3_Silent_p.F318F|TIE1_uc010okf.1_Silent_p.F7F|TIE1_uc010okg.2_Silent_p.F7F|TIE1_uc010okc.2_Intron NM_005424 NP_005415 P35590 TIE1_HUMAN Homo sapiens tyrosine kinase with immunoglobulin-like and EGF-like domains 1 (TIE1), transcript variant 1, mRNA. 362 mesoderm development integral to plasma membrane ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 70 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) AACTGGAGTTCAACTTAGAGA 0.607000 14 49 0 0 0.00361006 0 0 OVGP1 5016 broad.mit.edu 37 1 111957394 111957394 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:111957394G>A uc001eba.3 - 10 1785 c.1729C>T c.(1729-1731)Ccc>Tcc p.P577S OVGP1_uc001eaz.3_Missense_Mutation_p.P539S|OVGP1_uc010owb.2_Missense_Mutation_p.P225S NM_002557 NP_002548 Q12889 OVGP1_HUMAN Homo sapiens oviductal glycoprotein 1, 120kDa (OVGP1), mRNA. 577 chitin catabolic process|female pregnancy|single fertilization transport vesicle cation binding|chitinase activity NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1) 39 all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302) Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14) TTTCTGGAGGGGACAGTCACC 0.517000 49 88 0 0 0.00361006 0 0 OR2A2 442361 broad.mit.edu 37 7 143807053 143807053 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr7:143807053C>T uc011ktz.2 + 0 378 c.378C>T c.(376-378)tgC>tgT p.C126C NM_001005480 NP_001005480 Q6IF42 OR2A2_HUMAN Homo sapiens olfactory receptor, family 2, subfamily A, member 2 (OR2A2), mRNA. 126 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)|skin(4) 22 Melanoma(164;0.0783) TGGCCATCTGCCACCCTTTCC 0.473000 120 34 0 0 0.0024448 0 0 VHL 7428 broad.mit.edu 37 3 10191547 10191547 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr3:10191547C>T uc003bvc.3 + 2 753 c.540C>T c.(538-540)atC>atT p.I180I VHL_uc003bvd.3_Silent_p.I139I NM_000551 NP_000542 P40337 VHL_HUMAN Homo sapiens von Hippel-Lindau tumor suppressor (VHL), transcript variant 1, mRNA. 180 I -> V (in VHLD; type I). anti-apoptosis|cell morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cell differentiation|positive regulation of transcription, DNA-dependent|protein stabilization|protein ubiquitination|proteolysis cytosol|endoplasmic reticulum|membrane|mitochondrion|nucleus protein binding|transcription factor binding p.I180fs*22(4)|p.I180N(4)|p.D179fs*23(3)|p.L178_V181del(2)|p.I180fs*21(2)|p.D179_I180del(2)|p.D179fs*>36(2)|p.D179A(1)|p.D179N(1)|p.D179fs*36(1) adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3) 1769 Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569) GACTGGACATCGTCAGGTCGC 0.517000 1 """D, Mis, N, F, S""" """renal, hemangioma, pheochromocytoma""" """renal, hemangioma, pheochromocytoma""" von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia 28 10 0 0 0.000442599 0 0 BMP5 653 broad.mit.edu 37 6 55659192 55659192 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr6:55659192C>T uc003pcq.3 - 2 1429 c.717G>A c.(715-717)aaG>aaA p.K239K BMP5_uc011dxf.2_Silent_p.K239K NM_021073 NP_066551 P22003 BMP5_HUMAN Homo sapiens bone morphogenetic protein 5 (BMP5), mRNA. 239 cartilage development|cell differentiation|growth|ossification extracellular space BMP receptor binding|cytokine activity|growth factor activity cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1) 45 Lung NSC(77;0.0462) LUSC - Lung squamous cell carcinoma(124;0.181) AAGCTTGGGCCTTTCTTGTGT 0.373000 79 57 0 0 0.00361006 0 0 JAKMIP1 152789 broad.mit.edu 37 4 6081952 6081952 + Missense_Mutation SNP A G G TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr4:6081952A>G uc010idb.1 - 6 1675 c.1189T>C c.(1189-1191)Ttc>Ctc p.F397L JAKMIP1_uc010idc.1_Missense_Mutation_p.F232L|JAKMIP1_uc010idd.1_Missense_Mutation_p.F397L|JAKMIP1_uc003giu.4_Missense_Mutation_p.F397L|JAKMIP1_uc011bwc.2_Missense_Mutation_p.F232L|JAKMIP1_uc003giv.4_Missense_Mutation_p.F397L|JAKMIP1_uc010ide.3_Missense_Mutation_p.F397L NM_001099433 NP_001092903 Q96N16 JKIP1_HUMAN Homo sapiens janus kinase and microtubule interacting protein 1 (JAKMIP1), transcript variant 1, mRNA. 397 Mediates interaction with TYK2 and GABBR1. protein transport cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex GABA receptor binding|RNA binding NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 AGCCTCAGGAACTCGATCTCC 0.607000 13 15 0 0 0.00316338 0 0 SLC22A20 440044 broad.mit.edu 37 11 64985083 64985083 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr11:64985083C>T uc021qlg.1 + 2 596 c.563C>T c.(562-564)tCc>tTc p.S188F SLC22A20_uc021qlh.1_5'UTR NM_001004326 NP_001004326 A6NK97 S22AK_HUMAN Homo sapiens solute carrier family 22, member 20 (SLC22A20), transcript variant 1, mRNA. 186 ion transport integral to membrane transmembrane transporter activity central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(2) 8 TATTTCAGCTCCTTCAGTGCC 0.617000 19 13 0 0 0.00244969 0 0 PRPF4B 8899 broad.mit.edu 37 6 4041016 4041016 + Missense_Mutation SNP C T T rs143126415 TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr6:4041016C>T uc003mvv.3 + 3 1514 c.1423C>T c.(1423-1425)Cgg>Tgg p.R475W PRPF4B_uc003mvw.3_Non-coding_Transcript|PRPF4B_uc011dhv.1_Non-coding_Transcript NM_003913 NP_003904 Q13523 PRP4B_HUMAN Homo sapiens PRP4 pre-mRNA processing factor 4 homolog B (yeast) (PRPF4B), mRNA. 475 Arg/Lys-rich (basic). catalytic step 2 spliceosome ATP binding|protein binding|protein serine/threonine kinase activity breast(6)|endometrium(3)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 22 Ovarian(93;0.0925) all_hematologic(90;0.0895) GGACAGAGGTCGGAGGAGCAG 0.438000 90 19 0 0 0.00152264 0 0 PHF17 79960 broad.mit.edu 37 4 129783278 129783278 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr4:129783278C>T uc011cgy.2 + 8 1715 c.1401C>T c.(1399-1401)atC>atT p.I467I PHF17_uc003igj.3_Silent_p.I467I|PHF17_uc003igk.3_Silent_p.I467I|PHF17_uc003igl.3_Silent_p.I455I|PHF17_uc003igm.3_Silent_p.I467I NM_199320 NP_955352 Q6IE81 JADE1_HUMAN Homo sapiens PHD finger protein 17 (PHF17), transcript variant L, mRNA. 467 apoptosis|histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation|negative regulation of cell growth|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent histone acetyltransferase complex|mitochondrion protein binding|zinc ion binding NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 29 AGCCCCTGATCACCCCAAAGA 0.532000 33 29 0 0 0.00127121 0 0 SLC39A5 283375 broad.mit.edu 37 12 56631453 56631454 + Missense_Mutation DNP GG AA AA TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr12:56631453_56631454GG>AA uc010sqj.2 + 12 1818_1819 c.1561_1562GG>AA c.(1561-1563)ggc>AAc p.G521N SLC39A5_uc010sqk.2_Missense_Mutation_p.G521N NM_173596 NP_775867 Q6ZMH5 S39A5_HUMAN Homo sapiens solute carrier family 39 (metal ion transporter), member 5 (SLC39A5), transcript variant 1, mRNA. 521 zinc ion transport basolateral plasma membrane|integral to membrane metal ion transmembrane transporter activity NS(1)|cervix(6)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 GCTGGGGGGCGGCCTCATGCTT 0.653000 28 6 0 0 6.4e-05 0 0 ALPK2 115701 broad.mit.edu 37 18 56203768 56203768 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr18:56203768G>A uc002lhj.4 - 4 3865 c.3651C>T c.(3649-3651)atC>atT p.I1217I ALPK2_uc002lhk.1_Silent_p.I548I NM_052947 NP_443179 Q86TB3 ALPK2_HUMAN Homo sapiens alpha-kinase 2 (ALPK2), mRNA. 1217 I -> T (in Ref. 4; BAC03812). ATP binding|protein serine/threonine kinase activity p.Y1217N(1) 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 CTTCCAAAAGGATATCAGAGA 0.512000 98 90 0 0 0.00361006 0 0 PSG8 440533 broad.mit.edu 37 19 43268180 43268180 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:43268180G>A uc002ouo.2 - 1 416 c.318C>T c.(316-318)tcC>tcT p.S106S PSG3_uc002ouf.3_Intron|PSG3_uc002oug.1_Intron|PSG8_uc002ouh.3_Silent_p.S106S|PSG8_uc010ein.3_Intron|PSG3_uc002oun.3_Intron NM_182707 NP_874366 Q9UQ74 PSG8_HUMAN Homo sapiens pregnancy specific beta-1-glycoprotein 8 (PSG8), transcript variant 1, mRNA. 106 Ig-like V-type. extracellular region breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 40 Prostate(69;0.00899) GGATCAGCAGGGATGCATTGG 0.428000 125 89 0 0 0.00361006 0 0 FADS3 3995 broad.mit.edu 37 11 61643405 61643405 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr11:61643405G>A uc001nsm.3 - 10 1357 c.1204C>T c.(1204-1206)Ccg>Tcg p.P402S NM_021727 NP_068373 Q9Y5Q0 FADS3_HUMAN Homo sapiens fatty acid desaturase 3 (FADS3), mRNA. 402 electron transport chain|transport|unsaturated fatty acid biosynthetic process endoplasmic reticulum membrane|integral to membrane|membrane fraction heme binding|oxidoreductase activity, acting on paired donors, with oxidation of a pair of donors resulting in the reduction of molecular oxygen to two molecules of water central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 TTGACCAGCGGGGCCACCCGG 0.652000 79 40 0 0 0.00222228 0 0 PSMD10 5716 broad.mit.edu 37 X 107331010 107331010 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chrX:107331010G>A uc004enp.2 - 3 557 c.433C>T c.(433-435)Cgg>Tgg p.R145W PSMD10_uc004enq.2_Missense_Mutation_p.R145W|PSMD10_uc010nph.2_Missense_Mutation_p.R96W NM_002814 NP_002805 O75832 PSD10_HUMAN Homo sapiens proteasome (prosome, macropain) 26S subunit, non-ATPase, 10 (PSMD10), transcript variant 1, mRNA. 145 Interaction with RELA. DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cytoplasmic sequestering of NF-kappaB|mRNA metabolic process|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of MAPKKK cascade|negative regulation of NF-kappaB transcription factor activity|negative regulation of apoptosis|negative regulation of release of cytochrome c from mitochondria|negative regulation of transcription from RNA polymerase II promoter|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of cell growth|positive regulation of cyclin-dependent protein kinase activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|proteasome regulatory particle assembly|regulation of cellular amino acid metabolic process|viral reproduction actin cytoskeleton|cytoplasm|intermediate filament cytoskeleton|nucleus|proteasome regulatory particle transcription factor binding endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 9 GCTGCTGCCCGGTGCATTGCT 0.458000 6 44 0 0 0.00361006 0 0 SLC26A3 1811 broad.mit.edu 37 7 107408085 107408085 + Missense_Mutation SNP T G G TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr7:107408085T>G uc003ver.2 - 19 2421 c.2210A>C c.(2209-2211)aAa>aCa p.K737T SLC26A3_uc003ves.2_Missense_Mutation_p.K624T NM_000111 NP_000102 P40879 S26A3_HUMAN Homo sapiens solute carrier family 26, member 3 (SLC26A3), mRNA. 737 excretion integral to membrane|membrane fraction inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 46 TTTTCCATCTTTTTCCTGAGA 0.328000 13 41 0 0 0.00148497 0 0 CD276 80381 broad.mit.edu 37 15 73996076 73996076 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr15:73996076C>T uc002avv.1 + 4 1044 c.810C>T c.(808-810)ttC>ttT p.F270F CD276_uc010bjd.1_Silent_p.F124F|CD276_uc002avu.1_Silent_p.F270F|CD276_uc002avw.1_Intron|CD276_uc010ulb.1_Silent_p.F216F NM_001024736 NP_001019907 Q5ZPR3 CD276_HUMAN Homo sapiens CD276 molecule (CD276), transcript variant 1, mRNA. 270 Ig-like V-type 2. T cell activation|cell proliferation|immune response|positive regulation of T cell proliferation|positive regulation of interferon-gamma biosynthetic process|regulation of immune response external side of plasma membrane|integral to membrane receptor binding endometrium(3)|lung(5)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1) 13 GCTGCTCCTTCTCCCCCGAGC 0.672000 10 23 0 0 0.000720815 0 0 IL18R1 8809 broad.mit.edu 37 2 103001405 103001405 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:103001405G>A uc002tbw.4 + 6 906 c.756G>A c.(754-756)ggG>ggA p.G252G IL18R1_uc010ywd.2_Silent_p.G97G|IL18R1_uc010fiy.3_Silent_p.G252G|IL18R1_uc010ywc.2_Silent_p.G252G NM_003855 NP_003846 Q13478 IL18R_HUMAN Homo sapiens interleukin 18 receptor 1 (IL18R1), mRNA. 252 Ig-like C2-type 3. innate immune response integral to membrane|plasma membrane interleukin-1 receptor activity breast(1)|endometrium(3)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 34 GGATGTTCGGGGAAGAAAATG 0.328000 73 64 0 0 0.00361006 0 0 CTNNBL1 56259 broad.mit.edu 37 20 36468529 36468529 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr20:36468529C>T uc021wdj.1 + 11 1330 c.1239C>T c.(1237-1239)tcC>tcT p.S413S CTNNBL1_uc002xhh.3_Silent_p.S226S|CTNNBL1_uc002xhi.3_Non-coding_Transcript|CTNNBL1_uc002xhj.3_Silent_p.S161S NM_030877 NP_110517 Q8WYA6 CTBL1_HUMAN Homo sapiens catenin, beta like 1 (CTNNBL1), mRNA. 413 apoptosis|positive regulation of apoptosis|somatic diversification of immunoglobulins nucleus enzyme binding autonomic_ganglia(1)|breast(2)|endometrium(9)|large_intestine(6)|lung(6)|ovary(3)|urinary_tract(1) 28 Myeloproliferative disorder(115;0.00878) TCCTGGCTTCCCTCCTGCGGA 0.502000 41 56 0 0 0.00361006 0 0 MAGEC3 139081 broad.mit.edu 37 X 140953310 140953310 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chrX:140953310G>A uc011mwp.2 + 1 177 c.177G>A c.(175-177)ctG>ctA p.L59L NM_138702 NP_619647 Q8TD91 MAGC3_HUMAN Homo sapiens melanoma antigen family C, 3 (MAGEC3), transcript variant 1, mRNA. 59 p.H58N(1) NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2) 69 Acute lymphoblastic leukemia(192;6.56e-05) TTGGGCATCTGAGGGAGGTGA 0.507000 8 32 0 0 0.000953801 0 0 TTN 7273 broad.mit.edu 37 2 179428361 179428361 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:179428361C>T uc021vsy.1 - 274 75019 c.74794G>A c.(74794-74796)Gaa>Aaa p.E24932K MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.E18627K|TTN_uc021vta.1_Missense_Mutation_p.E18560K|TTN_uc021vtb.1_Missense_Mutation_p.E18435K NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 25859 Fibronectin type-III 81. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.E18435K(1) NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CCCTCAATTTCGGTACCTCCG 0.478000 110 72 0 0 0.00361006 0 0 TNFRSF10C 8794 broad.mit.edu 37 8 22969277 22969277 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr8:22969277C>T uc003xcy.3 + 1 413 c.105C>T c.(103-105)ccC>ccT p.P35P TNFRSF10C_uc011kzr.2_Intron NM_003841 NP_003832 O14798 TR10C_HUMAN Homo sapiens tumor necrosis factor receptor superfamily, member 10c, decoy without an intracellular domain (TNFRSF10C), mRNA. 35 apoptosis anchored to membrane|integral to plasma membrane TRAIL binding|transmembrane receptor activity endometrium(1)|large_intestine(6)|lung(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2) 15 Prostate(55;0.0421)|Breast(100;0.067) Colorectal(74;0.0147)|COAD - Colon adenocarcinoma(73;0.0612) AGGAAGTTCCCCAGCAGACAG 0.532000 15 8 0 0 0.000978159 0 0 SLC2A5 6518 broad.mit.edu 37 1 9100210 9100210 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:9100210C>T uc001apo.3 - 5 902 c.610G>A c.(610-612)Gcg>Acg p.A204T SLC2A5_uc010nzy.2_Missense_Mutation_p.A145T|SLC2A5_uc010nzz.2_Missense_Mutation_p.A89T|SLC2A5_uc010oaa.2_Missense_Mutation_p.A160T NM_003039 NP_003030 P22732 GTR5_HUMAN Homo sapiens solute carrier family 2 (facilitated glucose/fructose transporter), member 5 (SLC2A5), transcript variant 1, mRNA. 204 carbohydrate metabolic process integral to membrane|plasma membrane fructose transmembrane transporter activity|glucose transmembrane transporter activity endometrium(6)|kidney(15)|large_intestine(6)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|urinary_tract(1) 36 Ovarian(185;0.112)|all_lung(157;0.185) all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.78e-07)|COAD - Colon adenocarcinoma(227;8.83e-05)|Kidney(185;0.000286)|KIRC - Kidney renal clear cell carcinoma(229;0.00103)|STAD - Stomach adenocarcinoma(132;0.0019)|BRCA - Breast invasive adenocarcinoma(304;0.00199)|READ - Rectum adenocarcinoma(331;0.0649) AGCTGCAGCGCCGCGGGGACC 0.682000 0 3 0 0 6.4e-05 0 0 USP29 57663 broad.mit.edu 37 19 57640713 57640713 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:57640713C>T uc002qny.3 + 3 1026 c.670C>T c.(670-672)Ctc>Ttc p.L224F USP29_uc021vci.1_Missense_Mutation_p.L224F NM_020903 NP_065954 Q9HBJ7 UBP29_HUMAN Homo sapiens ubiquitin specific peptidase 29 (USP29), mRNA. 224 protein modification process|ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity p.L224F(2) breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 85 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) AGATTTGAAACTCGGGCCTTC 0.363000 46 67 0 0 0.00361006 0 0 PKMYT1 9088 broad.mit.edu 37 16 3023012 3023012 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr16:3023012G>A uc002csn.3 - 8 1951 c.1442C>T c.(1441-1443)cCc>cTc p.P481L PAQR4_uc002csj.4_3'UTR|PAQR4_uc002csk.4_3'UTR|PAQR4_uc002csl.4_3'UTR|PAQR4_uc010uwm.2_3'UTR|PKMYT1_uc010uwn.2_Non-coding_Transcript|PKMYT1_uc002csm.3_3'UTR|PKMYT1_uc002cso.3_Missense_Mutation_p.P412L|PKMYT1_uc002csq.3_Missense_Mutation_p.P472L NM_004203 NP_004194 Q99640 PMYT1_HUMAN Homo sapiens protein kinase, membrane associated tyrosine/threonine 1 (PKMYT1), transcript variant 1, mRNA. 481 Interaction with CDC2-CCNB1.|Interaction with PIN1. G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of mitosis Golgi membrane|endoplasmic reticulum membrane|membrane fraction|nucleoplasm ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity NS(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 10 CTCAAAGGAGGGGAAGGAGCC 0.562000 19 14 0 0 0.000566183 0 0 USP29 57663 broad.mit.edu 37 19 57641411 57641411 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:57641411C>T uc002qny.3 + 3 1724 c.1368C>T c.(1366-1368)atC>atT p.I456I USP29_uc021vci.1_Silent_p.I456I NM_020903 NP_065954 Q9HBJ7 UBP29_HUMAN Homo sapiens ubiquitin specific peptidase 29 (USP29), mRNA. 456 protein modification process|ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 85 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) ATCTCTCCATCAACCTGCACC 0.358000 69 102 0 0 0.00361006 0 0 LPP 4026 broad.mit.edu 37 3 188584049 188584050 + Missense_Mutation DNP CC TT TT rs138205223 byFrequency TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr3:188584049_188584050CC>TT uc003frs.2 + 8 1718_1719 c.1472_1473CC>TT c.(1471-1473)acc>aTT p.T491I LPP_uc011bsg.2_Missense_Mutation_p.T344I|LPP_uc011bsi.2_Missense_Mutation_p.T491I|LPP_uc011bsj.2_Missense_Mutation_p.T328I NM_005578 NP_005569 Q93052 LPP_HUMAN Homo sapiens LIM domain containing preferred translocation partner in lipoma (LPP), transcript variant 1, mRNA. 491 LIM zinc-binding 2. cell adhesion cytoplasm|focal adhesion|nucleus protein binding|zinc ion binding p.A490V(1) HMGA2/LPP(161) NS(1)|breast(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2) 10 all_cancers(143;1.37e-09)|all_hematologic(3;0.0429)|Ovarian(172;0.088) all_lung(153;0.00139)|Lung NSC(153;0.00202) GBM - Glioblastoma multiforme(93;0.00602) CTCCGAGCCACCGGGAAGGCCT 0.559000 T """HMGA2, MLL, C12orf9""" """lipoma, leukemia""" 62 43 0 0 6.4e-05 0 0 APOBEC3D 140564 broad.mit.edu 37 22 39427956 39427956 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr22:39427956C>T uc003awt.4 + 5 1427 c.1020C>T c.(1018-1020)tcC>tcT p.S340S APOBEC3D_uc010gxu.3_Silent_p.S136S|APOBEC3D_uc003awu.4_Silent_p.S156S NM_152426 NP_689639 Q96AK3 ABC3D_HUMAN Homo sapiens apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3D (APOBEC3D), mRNA. 340 negative regulation of transposition hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|zinc ion binding breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2) 11 Melanoma(58;0.04) AAGGGGCCTCCGTGAAGATCA 0.612000 46 55 0 0 0.00361006 0 0 DNAH5 1767 broad.mit.edu 37 5 13781030 13781030 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr5:13781030G>A uc003jfd.2 - 52 8901 c.8859C>T c.(8857-8859)ctC>ctT p.L2953L NM_001369 NP_001360 Q8TE73 DYH5_HUMAN Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA. 2953 AAA 4 (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) CCCCGACCAGGAGGGCATTTC 0.458000 Kartagener syndrome 5 22 0 0 0.000720815 0 0 TMPRSS6 164656 broad.mit.edu 37 22 37485790 37485790 + Nonsense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr22:37485790G>A uc003aqt.1 - 6 726 c.664C>T c.(664-666)Cag>Tag p.Q222* TMPRSS6_uc003aqs.1_Nonsense_Mutation_p.Q231*|TMPRSS6_uc003aqu.3_Nonsense_Mutation_p.Q222* NM_153609 NP_705837 Q8IU80 TMPS6_HUMAN Homo sapiens transmembrane protease, serine 6 (TMPRSS6), mRNA. 231 CUB 1. angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis integral to membrane|intracellular|plasma membrane serine-type endopeptidase activity breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3) 40 CGGAGGACCTGGCCCTGGCCC 0.672000 16 18 0 0 0.000958276 0 0 EIF2AK1 27102 broad.mit.edu 37 7 6084289 6084289 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr7:6084289G>A uc003spp.3 - 6 780 c.634C>T c.(634-636)Cta>Tta p.L212L EIF2AK1_uc003spq.3_Silent_p.L212L|EIF2AK1_uc011jwm.1_Silent_p.L88L|EIF2AK1_uc003spr.1_Silent_p.L4L NM_014413 NP_055228 Q9BQI3 E2AK1_HUMAN Homo sapiens eukaryotic translation initiation factor 2-alpha kinase 1 (EIF2AK1), transcript variant 1, mRNA. 212 Protein kinase. negative regulation of hemoglobin biosynthetic process|negative regulation of translational initiation by iron|protein autophosphorylation|response to external stimulus|response to stress cytoplasm ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|heme binding|protein homodimerization activity central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2) 27 Ovarian(82;0.0423) UCEC - Uterine corpus endometrioid carcinoma (126;0.106)|OV - Ovarian serous cystadenocarcinoma(56;5.22e-14) ACTTCCCGTAGGACCTAGAAA 0.443000 37 30 0 0 0.00209593 0 0 ARHGAP33 115703 broad.mit.edu 37 19 36278102 36278102 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:36278102C>T uc002obs.2 + 20 2296 c.2152C>T c.(2152-2154)Ccc>Tcc p.P718S ARHGAP33_uc002obt.2_Missense_Mutation_p.P743S|ARHGAP33_uc002obv.1_Missense_Mutation_p.P467S NM_052948 NP_443180 O14559 RHG33_HUMAN Homo sapiens Rho GTPase activating protein 33 (ARHGAP33), transcript variant 1, mRNA. 766 cell communication|protein transport|signal transduction intracellular GTPase activator activity|phosphatidylinositol binding|protein binding p.P718L(1) endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 37 GCCACCCCCTCCCCTGTCTCT 0.662000 16 24 0 0 0.000878237 0 0 TYK2 7297 broad.mit.edu 37 19 10475409 10475409 + Silent SNP G A A rs138350396 by1000genomes TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:10475409G>A uc002moc.4 - 8 1626 c.1248C>T c.(1246-1248)ttC>ttT p.F416F TYK2_uc010dxe.3_Silent_p.F231F|TYK2_uc002mod.2_Silent_p.F416F NM_003331 NP_003322 P29597 TYK2_HUMAN Homo sapiens tyrosine kinase 2 (TYK2), mRNA. 416 FERM. intracellular protein kinase cascade|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway cytoskeleton|cytosol|membrane|nucleus ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity p.F416F(2) breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 64 OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06) CCAGCGACACGAAGGACAGCG 0.682000 18 20 0 0 0.00121646 0 0 EPHA4 2043 broad.mit.edu 37 2 222436924 222436924 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:222436924C>T uc002vmq.3 - 0 87 c.45G>A c.(43-45)ggG>ggA p.G15G EPHA4_uc002vmr.2_Silent_p.G15G|EPHA4_uc010zlm.1_5'UTR|AX747413_uc002vms.1_5'Flank NM_004438 NP_004429 P54764 EPHA4_HUMAN Homo sapiens EPH receptor A4 (EPHA4), mRNA. 15 integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 Renal(207;0.0183) Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154) CGTCGCAAATCCCGAAGAGAC 0.572000 36 16 0 0 0.000566183 0 0 LCE1E 353135 broad.mit.edu 37 1 152760030 152760030 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:152760030C>T uc021ozg.1 + 0 255 c.255C>T c.(253-255)tcC>tcT p.S85S LCE1E_uc001fan.3_Silent_p.S85S NM_178353 NP_848130 Q5T753 LCE1E_HUMAN Homo sapiens late cornified envelope 1E (LCE1E), mRNA. 85 Cys-rich. keratinization lung(5)|stomach(1) 6 Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) ACCACAGGTCCCACCGTCACA 0.697000 55 19 0 0 0.00121646 0 0 ZNF714 148206 broad.mit.edu 37 19 21300638 21300638 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:21300638C>T uc002npo.4 + 4 1546 c.1168C>T c.(1168-1170)Cat>Tat p.H390Y ZNF714_uc002npl.3_Missense_Mutation_p.H236Y|ZNF714_uc002npn.3_Non-coding_Transcript|ZNF714_uc010ecp.2_Non-coding_Transcript|ZNF714_uc021urp.1_5'Flank NM_182515 NP_872321 Q96N38 ZN714_HUMAN Homo sapiens zinc finger protein 714 (ZNF714), mRNA. 391 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(3)|lung(11)|urinary_tract(2) 18 TAAGATAATTCATACTGGAGA 0.348000 13 13 0 0 0.00185496 0 0 GRIN2A 2903 broad.mit.edu 37 16 9857546 9857546 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr16:9857546C>T uc010uym.2 - 13 4165 c.3855G>A c.(3853-3855)agG>agA p.R1285R GRIN2A_uc002czo.4_Silent_p.R1285R|GRIN2A_uc010uyn.2_Intron|GRIN2A_uc002czr.4_Intron NM_000833 NP_001127879 Q12879 NMDE1_HUMAN Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA. 1285 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.R1285K(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) GACGGCTAATCCTTAGCTTGT 0.532000 57 22 0 0 0.00278032 0 0 THSD7B 80731 broad.mit.edu 37 2 137917850 137917850 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:137917850C>T uc002tva.1 + 4 1344 c.1344C>T c.(1342-1344)atC>atT p.I448I THSD7B_uc010zbj.1_Intron|THSD7B_uc002tvb.3_Silent_p.I338I NM_001080427 NP_001073896 Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA. NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 134 BRCA - Breast invasive adenocarcinoma(221;0.19) TCTGCAATATCCCTTGCTCTA 0.517000 44 27 0 0 0.00127121 0 0 ZNF283 284349 broad.mit.edu 37 19 44352446 44352446 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:44352446C>T uc002oxr.4 + 6 1961 c.1693C>T c.(1693-1695)Cat>Tat p.H565Y ZNF283_uc002oxp.4_Missense_Mutation_p.H426Y NM_181845 NP_862828 Q8N7M2 ZN283_HUMAN Homo sapiens zinc finger protein 283 (ZNF283), mRNA. 565 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|large_intestine(3)|lung(4) 8 Prostate(69;0.0352) TCAGAAAATTCATACCGGTGA 0.418000 31 10 0 0 0.000673444 0 0 DROSHA 29102 broad.mit.edu 37 5 31422952 31422952 + Missense_Mutation SNP C A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr5:31422952C>A uc003jhg.2 - 27 3720 c.3361G>T c.(3361-3363)Gtt>Ttt p.V1121F DROSHA_uc003jhh.2_Missense_Mutation_p.V1084F|DROSHA_uc003jhi.2_Missense_Mutation_p.V1084F NM_013235 NP_037367 Q9NRR4 RNC_HUMAN Homo sapiens drosha, ribonuclease type III (DROSHA), transcript variant 1, mRNA. 1121 Necessary for interaction with DGCR8 and pri-miRNA processing activity.|RNase III 2. RNA processing|gene silencing by RNA|ribosome biogenesis nucleolus|nucleoplasm double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(19)|lung(33)|ovary(2)|skin(1) 66 AGAAGTCGAACATGAGTAAAA 0.388000 2 26 9.04412e-07 2.62221e-06 0.000720815 1 0 OR2F1 26211 broad.mit.edu 37 7 143657981 143657981 + Nonsense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr7:143657981G>A uc003wds.1 + 0 962 c.918G>A c.(916-918)tgG>tgA p.W306* NM_012369 NP_036501 Q13607 OR2F1_HUMAN Homo sapiens olfactory receptor, family 2, subfamily F, member 1 (OR2F1), mRNA. 306 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.W306C(2) breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|skin(4) 34 Melanoma(164;0.0903) AACTATTATGGAAATTCTCTG 0.433000 20 61 0 0 0.00361006 0 0 RSPO1 284654 broad.mit.edu 37 1 38079995 38079995 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:38079995G>A uc001cbl.2 - 5 1189 c.297C>T c.(295-297)atC>atT p.I99I RSPO1_uc009vvf.2_Silent_p.I72I|RSPO1_uc001cbm.2_Silent_p.I99I|RSPO1_uc009vvg.2_Silent_p.I99I NM_001038633 NP_001229837 Q2MKA7 RSPO1_HUMAN Homo sapiens R-spondin 1 (RSPO1), transcript variant 1, mRNA. 99 positive regulation of canonical Wnt receptor signaling pathway|regulation of receptor internalization heparin binding breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5) 12 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) CACAGTGCTCGATCTTGCATT 0.577000 20 46 0 0 0.00361006 0 0 PPP4R4 57718 broad.mit.edu 37 14 94722887 94722887 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr14:94722887G>A uc001ycs.1 + 16 2110 c.1956G>A c.(1954-1956)gtG>gtA p.V652V NM_058237 NP_478144 Q6NUP7 PP4R4_HUMAN Homo sapiens protein phosphatase 4, regulatory subunit 4 (PPP4R4), transcript variant 1, mRNA. 652 cytoplasm|protein serine/threonine phosphatase complex protein binding NS(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(15)|lung(10)|skin(7)|upper_aerodigestive_tract(2) 40 AAATGTGTGTGAGGAAACTCC 0.363000 19 20 0 0 0.00152264 0 0 KANSL1 284058 broad.mit.edu 37 17 44144014 44144014 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr17:44144014G>A uc002ikc.3 - 5 2208 c.1737C>T c.(1735-1737)ctC>ctT p.L579L KANSL1_uc002ikd.3_Silent_p.L579L|KANSL1_uc010dav.3_Silent_p.L579L NM_001193466 NP_056258 Q7Z3B3 K1267_HUMAN Homo sapiens KIAA1267 (KIAA1267), transcript variant 1, mRNA. 579 MLL1 complex protein binding ATGAAGAGACGAGATTCAGTC 0.517000 29 15 0 0 0.00074312 0 0 MYOM3 127294 broad.mit.edu 37 1 24388451 24388451 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:24388451C>T uc001bin.4 - 32 4082 c.3919G>A c.(3919-3921)Gat>Aat p.D1307N MYOM3_uc001bil.4_Missense_Mutation_p.D200N|MYOM3_uc001bim.4_Missense_Mutation_p.D964N NM_152372 NP_689585 Q5VTT5 MYOM3_HUMAN Homo sapiens myomesin family, member 3 (MYOM3), mRNA. 1307 NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2) 68 Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153) CCTGAGAGATCTGTTGAGAGC 0.527000 115 33 0 0 0.00375469 0 0 DCC 1630 broad.mit.edu 37 18 50705414 50705414 + Nonsense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr18:50705414C>T uc002lfe.2 + 8 2117 c.1501C>T c.(1501-1503)Cga>Tga p.R501* DCC_uc010xdr.1_Nonsense_Mutation_p.R349*|DCC_uc010dpf.2_Nonsense_Mutation_p.R156* NM_005215 NP_005206 P43146 DCC_HUMAN Homo sapiens deleted in colorectal carcinoma (DCC), mRNA. 501 Fibronectin type-III 1. apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development cytosol|integral to membrane NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6) 148 all_cancers(7;0.11)|all_epithelial(6;0.00126) Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942) GTACACCTTTCGAGTTGTGGC 0.507000 22 16 0 0 0.000958276 0 0 NCOA1 8648 broad.mit.edu 37 2 24952581 24952581 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:24952581C>T uc002rfk.3 + 14 3357 c.3098C>T c.(3097-3099)tCa>tTa p.S1033L NCOA1_uc010eye.3_Missense_Mutation_p.S1033L|NCOA1_uc002rfi.3_Missense_Mutation_p.S882L|NCOA1_uc002rfj.3_Missense_Mutation_p.S1033L|NCOA1_uc002rfl.3_Missense_Mutation_p.S1033L NM_003743 NP_003734 Q15788 NCOA1_HUMAN Homo sapiens nuclear receptor coactivator 1 (NCOA1), transcript variant 1, mRNA. 1033 PAX3/NCOA1(8) breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 53 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GGTGCTTTTTCACCTGGCATG 0.542000 T PAX3 alveolar rhadomyosarcoma 94 24 0 0 0.00332997 0 0 XPR1 9213 broad.mit.edu 37 1 180775261 180775261 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:180775261C>T uc001goi.3 + 4 703 c.511C>T c.(511-513)Cgt>Tgt p.R171C XPR1_uc009wxm.2_Missense_Mutation_p.R171C|XPR1_uc009wxn.3_Missense_Mutation_p.R171C NM_004736 NP_004727 Q9UBH6 XPR1_HUMAN Homo sapiens xenotropic and polytropic retrovirus receptor 1 (XPR1), transcript variant 1, mRNA. 171 SPX. integral to plasma membrane G-protein coupled receptor activity breast(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 35 GGAAACATCTCGTGGAGCAGA 0.393000 17 31 0 0 0.001512 0 0 OR51S1 119692 broad.mit.edu 37 11 4869782 4869782 + Silent SNP C A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr11:4869782C>A uc010qyo.2 - 0 657 c.657G>T c.(655-657)ctG>ctT p.L219L NM_001004758 NP_001004758 Q8NGJ8 O51S1_HUMAN Homo sapiens olfactory receptor, family 51, subfamily S, member 1 (OR51S1), mRNA. 219 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 33 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19) AGAAAATAAGCAGGGGGTCCA 0.542000 27 26 0.00047179 0.00136205 0.00332997 1 0 SLC7A14 57709 broad.mit.edu 37 3 170201138 170201138 + Silent SNP G T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr3:170201138G>T uc003fgz.2 - 5 1396 c.1080C>A c.(1078-1080)gtC>gtA p.V360V CLDN11_uc011bpt.1_Intron|CLDN11_uc003fha.1_Intron NM_020949 NP_066000 Q8TBB6 S7A14_HUMAN Homo sapiens solute carrier family 7 (orphan transporter), member 14 (SLC7A14), mRNA. 360 integral to membrane amino acid transmembrane transporter activity central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4) 53 all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137) Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12) TGGCATAAATGACCCTCGGCA 0.547000 OREG0015917 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 76 32 9.17885e-22 2.69124e-21 0.00327116 1 0 RIMS2 9699 broad.mit.edu 37 8 105257214 105257214 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr8:105257214G>A uc003yls.3 + 23 3700 c.3459G>A c.(3457-3459)agG>agA p.R1153R RIMS2_uc003ylp.3_Silent_p.R1135R|RIMS2_uc003ylw.2_Silent_p.R1142R|RIMS2_uc003ylq.3_Silent_p.R949R|RIMS2_uc003ylr.3_Silent_p.R974R NM_014677 NP_055492 Q9UQ26 RIMS2_HUMAN Homo sapiens regulating synaptic membrane exocytosis 2 (RIMS2), transcript variant 2, mRNA. 1197 intracellular protein transport cell junction|presynaptic membrane Rab GTPase binding|metal ion binding NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1) 144 OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229) TGGAAATGAGGAACTGGATGA 0.473000 HNSCC(12;0.0054) 86 113 0 0 0.00361006 0 0 FAM46D 169966 broad.mit.edu 37 X 79698131 79698131 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chrX:79698131G>A uc022bzm.1 + 0 93 c.93G>A c.(91-93)ggG>ggA p.G31G FAM46D_uc004edl.1_Silent_p.G31G|FAM46D_uc004edm.2_Silent_p.G31G NM_152630 NP_689843 Q8NEK8 FA46D_HUMAN Homo sapiens family with sequence similarity 46, member D (FAM46D), transcript variant 2, mRNA. 31 kidney(1)|large_intestine(6)|liver(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1) 23 ATGGAAAGGGGAATTTCCCCA 0.368000 3 21 0 0 0.00121646 0 0 CX3CR1 1524 broad.mit.edu 37 3 39307251 39307251 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr3:39307251C>T uc021wwc.1 - 1 886 c.846G>A c.(844-846)atG>atA p.M282I CX3CR1_uc021wwa.1_Missense_Mutation_p.M250I|CX3CR1_uc021wwb.1_Missense_Mutation_p.M250I|CX3CR1_uc003cjl.3_Missense_Mutation_p.M250I|CX3CR1_uc021wwd.1_Missense_Mutation_p.M250I NM_001171174 NP_001164645 P49238 CX3C1_HUMAN Homo sapiens chemokine (C-X3-C motif) receptor 1 (CX3CR1), transcript variant 1, mRNA. 250 cell adhesion|cellular defense response|chemotaxis|interspecies interaction between organisms|response to wounding integral to plasma membrane chemokine receptor activity p.V281F(1) endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1) 24 KIRC - Kidney renal clear cell carcinoma(284;0.0557)|Kidney(284;0.0699) CCAGGAAAATCATAACGTTGT 0.468000 36 59 0 0 0.00361006 0 0 ARHGAP1 392 broad.mit.edu 37 11 46702650 46702650 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr11:46702650G>A uc001ndd.3 - 6 615 c.546C>T c.(544-546)ttC>ttT p.F182F NM_004308 NP_004299 Q07960 RHG01_HUMAN Homo sapiens Rho GTPase activating protein 1 (ARHGAP1), mRNA. 182 CRAL-TRIO. Rho protein signal transduction cytosol|intracellular membrane-bounded organelle SH3 domain binding|SH3/SH2 adaptor activity endometrium(1)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 11 Lung NSC(402;1.76e-12)|all_lung(304;1.3e-11) GBM - Glioblastoma multiforme(35;5.17e-06)|BRCA - Breast invasive adenocarcinoma(625;0.00112)|Lung(87;0.153) TCTTCTGCCCGAACTTGAAGC 0.602000 44 15 0 0 0.000422831 0 0 C22orf29 79680 broad.mit.edu 37 22 19839296 19839297 + Missense_Mutation DNP GG AA AA TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr22:19839296_19839297GG>AA uc002zqg.3 - 1 1087_1088 c.488_489CC>TT c.(487-489)ccc>cTT p.P163L GNB1L_uc002zqf.1_Intron|C22orf29_uc002zqh.3_Missense_Mutation_p.P163L|C22orf29_uc002zqi.3_Missense_Mutation_p.P163L|C22orf29_uc021wli.1_Missense_Mutation_p.P163L NM_024627 NP_078903 Q7L3V2 CV029_HUMAN Homo sapiens chromosome 22 open reading frame 29 (C22orf29), mRNA. 163 NS(1)|large_intestine(1)|lung(3)|prostate(1)|urinary_tract(1) 7 Colorectal(54;0.0993) CGTCAGGCAGGGGCAGGTCCCC 0.584000 60 35 0 0 6.4e-05 0 0 DCC 1630 broad.mit.edu 37 18 50278697 50278697 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr18:50278697G>A uc002lfe.2 + 1 981 c.365G>A c.(364-366)gGa>gAa p.G122E DCC_uc010xdr.1_5'UTR NM_005215 NP_005206 P43146 DCC_HUMAN Homo sapiens deleted in colorectal carcinoma (DCC), mRNA. 122 Ig-like C2-type 1. apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development cytosol|integral to membrane p.G122E(2) NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6) 148 all_cancers(7;0.11)|all_epithelial(6;0.00126) Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942) GCATCTTTAGGAGATTCTGGC 0.438000 62 56 0 0 0.00361006 0 0 SYNPO2 171024 broad.mit.edu 37 4 119951458 119951458 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr4:119951458G>A uc010inb.3 + 3 1724 c.1528G>A c.(1528-1530)Gaa>Aaa p.E510K SYNPO2_uc010ina.3_Missense_Mutation_p.E510K|SYNPO2_uc003icm.4_Missense_Mutation_p.E510K|SYNPO2_uc011cgh.2_Intron|SYNPO2_uc010inc.3_Missense_Mutation_p.E438K|SYNPO2_uc021xrd.1_5'Flank NM_133477 NP_597734 Q9UMS6 SYNP2_HUMAN Homo sapiens synaptopodin 2 (SYNPO2), transcript variant 1, mRNA. 510 Z disc|nucleus 14-3-3 protein binding|actin binding|muscle alpha-actinin binding breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 AGCCCAAAAAGAAGAGGACAA 0.522000 13 8 0 0 0.00307968 0 0 ANKK1 255239 broad.mit.edu 37 11 113265676 113265676 + Nonsense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr11:113265676G>A uc001pny.3 + 2 600 c.506G>A c.(505-507)tGg>tAg p.W169* NM_178510 NP_848605 Q8NFD2 ANKK1_HUMAN Homo sapiens ankyrin repeat and kinase domain containing 1 (ANKK1), mRNA. 169 Protein kinase. ATP binding|protein serine/threonine kinase activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|stomach(1) 29 all_cancers(61;1.53e-11)|all_epithelial(67;3e-06)|Melanoma(852;4.04e-05)|all_hematologic(158;0.000315)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0461)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Prostate(24;0.194) BRCA - Breast invasive adenocarcinoma(274;4.82e-06)|Epithelial(105;5.41e-05)|all cancers(92;0.000442)|OV - Ovarian serous cystadenocarcinoma(223;0.238) CTGTCCAAGTGGATGGAACAG 0.567000 2 19 0 0 0.00188189 0 0 SCAMP3 10067 broad.mit.edu 37 1 155230384 155230384 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:155230384G>A uc001fjs.3 - 2 445 c.211C>T c.(211-213)Ccc>Tcc p.P71S SCAMP3_uc001fjt.3_Missense_Mutation_p.P45S NM_005698 NP_005689 O14828 SCAM3_HUMAN Homo sapiens secretory carrier membrane protein 3 (SCAMP3), transcript variant 1, mRNA. 71 post-Golgi vesicle-mediated transport|protein transport integral to membrane breast(1)|endometrium(3)|large_intestine(3)|lung(7)|ovary(4)|urinary_tract(1) 19 all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088) Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193) TTTCTCGAGGGCTGCAAGGAG 0.582000 82 35 0 0 0.00148497 0 0 WWC1 23286 broad.mit.edu 37 5 167850869 167850869 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr5:167850869C>T uc003lzu.3 + 10 1699 c.1606C>T c.(1606-1608)Cca>Tca p.P536S WWC1_uc003lzv.3_Missense_Mutation_p.P536S|WWC1_uc011den.2_Missense_Mutation_p.P536S|WWC1_uc003lzw.3_Missense_Mutation_p.P335S NM_015238 NP_056053 Q8IX03 KIBRA_HUMAN Homo sapiens WW and C2 domain containing 1 (WWC1), transcript variant 3, mRNA. 536 cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|perinuclear region of cytoplasm|ruffle membrane protein binding|transcription coactivator activity breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4) 43 Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166) Medulloblastoma(196;0.0399)|all_neural(177;0.0577) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918) CTCCCTATCCCCACGTTCCTC 0.622000 25 27 0 0 0.000720815 0 0 C15orf2 23742 broad.mit.edu 37 15 24923694 24923694 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr15:24923694G>A uc001ywo.3 + 0 3154 c.2680G>A c.(2680-2682)Gga>Aga p.G894R NM_018958 NP_061831 Q9NZP6 CO002_HUMAN Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA. 894 cell differentiation|multicellular organismal development|spermatogenesis NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(1)|large_intestine(28)|lung(77)|ovary(5)|pancreas(1)|skin(8) 140 all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086) all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229) TTTAAATACAGGATCCATCTC 0.502000 84 87 0 0 0.00361006 0 0 ITGA4 3676 broad.mit.edu 37 2 182363425 182363425 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:182363425G>A uc002unu.3 + 14 2379 c.1616G>A c.(1615-1617)gGa>gAa p.G539E ITGA4_uc010frj.1_Missense_Mutation_p.G21E NM_000885 NP_000876 P13612 ITA4_HUMAN Homo sapiens integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor) (ITGA4), mRNA. 539 blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response integrin complex identical protein binding|receptor activity breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 58 OV - Ovarian serous cystadenocarcinoma(117;0.0593) Natalizumab(DB00108) TCTTCTAATGGAACTTCTGAC 0.363000 34 43 0 0 0.00321405 0 0 GRIN3B 116444 broad.mit.edu 37 19 1005144 1005144 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:1005144C>T uc002lqo.1 + 2 1644 c.1644C>T c.(1642-1644)ttC>ttT p.F548F NM_138690 NP_619635 O60391 NMD3B_HUMAN Homo sapiens glutamate receptor, ionotropic, N-methyl-D-aspartate 3B (GRIN3B), mRNA. 548 ionotropic glutamate receptor signaling pathway|protein insertion into membrane|regulation of calcium ion transport N-methyl-D-aspartate selective glutamate receptor complex|cell junction|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|glycine binding|ionotropic glutamate receptor activity|neurotransmitter receptor activity breast(1)|kidney(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1) 11 Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000226)|all_lung(49;0.000353)|Breast(49;0.00066) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) Glycine(DB00145)|L-Glutamic Acid(DB00142)|Orphenadrine(DB01173) CCAGCCCCTTCTTCTCCACCA 0.672000 38 17 0 0 0.000958276 0 0 COL5A2 1290 broad.mit.edu 37 2 189931166 189931166 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:189931166G>A uc002uqk.3 - 22 1788 c.1513C>T c.(1513-1515)Ccc>Tcc p.P505S COL5A2_uc010frx.3_Intron NM_000393 NP_000384 P05997 CO5A2_HUMAN Homo sapiens collagen, type V, alpha 2 (COL5A2), mRNA. 505 axon guidance|collagen fibril organization|eye morphogenesis|skin development collagen type V extracellular matrix structural constituent NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3) 95 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127) TCACCTCTGGGACCTCTTTTG 0.483000 112 120 0 0 0.00361006 0 0 CSF2RB 1439 broad.mit.edu 37 22 37333949 37333949 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr22:37333949G>A uc003aqa.4 + 13 2316 c.2099G>A c.(2098-2100)gGg>gAg p.G700E CSF2RB_uc003aqc.4_Missense_Mutation_p.G706E NM_000395 NP_000386 P32927 IL3RB_HUMAN Homo sapiens colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage) (CSF2RB), mRNA. 700 respiratory gaseous exchange granulocyte macrophage colony-stimulating factor receptor complex cytokine receptor activity breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2) 42 Sargramostim(DB00020) ATGAGCTCTGGGGACACTGAG 0.617000 49 42 0 0 0.0025221 0 0 SH2D3C 10044 broad.mit.edu 37 9 130536329 130536329 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr9:130536329G>A uc004bsc.3 - 1 597 c.455C>T c.(454-456)cCt>cTt p.P152L SH2D3C_uc004bsb.3_5'Flank|SH2D3C_uc004bsa.3_5'Flank|SH2D3C_uc004bsd.1_Missense_Mutation_p.P96L NM_170600 NP_733745 Q8N5H7 SH2D3_HUMAN Homo sapiens SH2 domain containing 3C (SH2D3C), transcript variant 1, mRNA. 152 JNK cascade|small GTPase mediated signal transduction cytoplasm|membrane SH3/SH2 adaptor activity|guanyl-nucleotide exchange factor activity breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 GGGGACCTCAGGCTTTCTGAT 0.602000 6 33 0 0 0.00209593 0 0 NCKAP5 344148 broad.mit.edu 37 2 133489581 133489581 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:133489581G>A uc002ttp.3 - 16 5546 c.5172C>T c.(5170-5172)acC>acT p.T1724T NCKAP5_uc002ttq.3_Silent_p.T405T NM_207363 NP_997246 O14513 NCKP5_HUMAN Homo sapiens NCK-associated protein 5 (NCKAP5), transcript variant 1, mRNA. 1724 protein binding NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 118 GGAGTGGAAAGGTTCCGATCC 0.532000 21 18 0 0 0.00074312 0 0 KIAA0430 9665 broad.mit.edu 37 16 15702213 15702213 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr16:15702213G>A uc002ddr.3 - 20 4324 c.4117C>T c.(4117-4119)Cgt>Tgt p.R1373C KIAA0430_uc002ddq.3_Missense_Mutation_p.R1207C|KIAA0430_uc010uzv.2_Missense_Mutation_p.R1370C|KIAA0430_uc010uzw.2_Missense_Mutation_p.R1373C NM_014647 NP_055462 Q9Y4F3 LKAP_HUMAN Homo sapiens KIAA0430 (KIAA0430), transcript variant 1, mRNA. 1372 peroxisome RNA binding|nucleotide binding breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1) 40 TCTTGGAGACGAAATGTATAA 0.363000 48 28 0 0 0.001512 0 0 GPR65 8477 broad.mit.edu 37 14 88477762 88477762 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr14:88477762G>A uc021rxh.1 + 0 571 c.571G>A c.(571-573)Ggc>Agc p.G191S GPR65_uc001xvv.3_Missense_Mutation_p.G191S NM_003608 NP_003599 Q8IYL9 PSYR_HUMAN Homo sapiens G protein-coupled receptor 65 (GPR65), mRNA. 191 actin cytoskeleton reorganization|activation of Rho GTPase activity|apoptosis|immune response|multicellular organismal development|positive regulation of cAMP biosynthetic process|positive regulation of stress fiber assembly|response to acidity integral to plasma membrane G-protein coupled receptor activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(1) 16 GACGTGTACAGGCTATGCAAT 0.413000 32 40 0 0 0.00222228 0 0 SFXN3 81855 broad.mit.edu 37 10 102799263 102799263 + Missense_Mutation SNP A G G TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr10:102799263A>G uc010qpx.2 + 10 1071 c.911A>G c.(910-912)aAc>aGc p.N304S SFXN3_uc001ksp.3_Missense_Mutation_p.N300S NM_030971 NP_112233 Q9BWM7 SFXN3_HUMAN Homo sapiens sideroflexin 3 (SFXN3), mRNA. 300 iron ion homeostasis integral to membrane|mitochondrial membrane cation transmembrane transporter activity central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 9 Colorectal(252;0.234) Epithelial(162;6.98e-09)|all cancers(201;3.55e-07) CACATAAGCAACCTGGAACCA 0.557000 15 68 0 0 0.00361006 0 0 GP9 2815 broad.mit.edu 37 3 128780669 128780669 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr3:128780669G>A uc003elm.2 + 2 274 c.87G>A c.(85-87)ctG>ctA p.L29L GP9_uc021xdn.1_Silent_p.L29L NM_000174 NP_000165 P14770 GPIX_HUMAN Homo sapiens glycoprotein IX (platelet) (GP9), mRNA. 29 LRRNT. blood coagulation, intrinsic pathway|cell adhesion|platelet activation integral to plasma membrane protein binding NS(1)|central_nervous_system(1)|lung(4) 6 Quinine(DB00468) GCCGCGCCCTGGAAACCATGG 0.701000 10 9 0 0 0.000442599 0 0 HMCN1 83872 broad.mit.edu 37 1 186022088 186022088 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:186022088C>T uc001grq.1 + 42 6811 c.6582C>T c.(6580-6582)ccC>ccT p.P2194P NM_031935 NP_114141 Q96RW7 HMCN1_HUMAN Homo sapiens hemicentin 1 (HMCN1), mRNA. 2194 response to stimulus|visual perception basement membrane calcium ion binding NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18) 308 TTCTAGTCCCCCCAAATATTG 0.338000 44 48 0 0 0.00361006 0 0 GUCY2C 2984 broad.mit.edu 37 12 14839148 14839148 + Silent SNP C A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr12:14839148C>A uc001rcd.3 - 2 479 c.342G>T c.(340-342)cgG>cgT p.R114R GUCY2C_uc009zhz.2_Silent_p.R114R NM_004963 NP_004954 P25092 GUC2C_HUMAN Homo sapiens guanylate cyclase 2C (heat stable enterotoxin receptor) (GUCY2C), mRNA. 114 R -> Q (in dbSNP:rs56275235). intracellular signal transduction|receptor guanylyl cyclase signaling pathway integral to membrane ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1) 51 CACAGCCCATCCGTTGTGCAT 0.438000 6 17 3.41278e-10 9.92463e-10 0.000566183 1 0 PTCH2 8643 broad.mit.edu 37 1 45295150 45295150 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:45295150G>A uc010olf.2 - 8 1151 c.1139C>T c.(1138-1140)tCc>tTc p.S380F PTCH2_uc021omv.1_Missense_Mutation_p.S380F|PTCH2_uc010olg.2_Missense_Mutation_p.S79F NM_003738 NP_003729 Q9Y6C5 PTC2_HUMAN Homo sapiens patched 2 (PTCH2), transcript variant 1, mRNA. 380 protein complex assembly|spermatogenesis integral to plasma membrane hedgehog receptor activity NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 50 Acute lymphoblastic leukemia(166;0.155) CAGGGTGGTGGAGGAGAAGGC 0.612000 Basal Cell Nevus syndrome 45 93 0 0 0.00361006 0 0 RPA1 6117 broad.mit.edu 37 17 1747224 1747224 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr17:1747224C>T uc002fto.2 + 2 210 c.95C>T c.(94-96)cCc>cTc p.P32L NM_002945 NP_002936 P27694 RFA1_HUMAN Homo sapiens replication protein A1, 70kDa (RPA1), mRNA. 32 DNA recombinase assembly|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|cell cycle checkpoint|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA gap filling|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair DNA replication factor A complex|PML body|actin cytoskeleton|cytoplasm metal ion binding|protein binding|single-stranded DNA binding breast(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(2) 10 AACATCCGTCCCATTACTACG 0.493000 Nucleotide excision repair (NER) 7 128 0 0 0.00361006 0 0 MGAM 8972 broad.mit.edu 37 7 141754673 141754673 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr7:141754673G>A uc003vwy.3 + 26 3333 c.3279G>A c.(3277-3279)ggG>ggA p.G1093G NM_004668 NP_004659 O43451 MGA_HUMAN Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA. 1093 Glucoamylase. polysaccharide digestion|starch catabolic process apical plasma membrane|integral to membrane carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2) 13 Melanoma(164;0.0272) Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878) ATCCATTTGGGATTGAAATTC 0.493000 107 21 0 0 0.00152264 0 0 C10orf90 118611 broad.mit.edu 37 10 128114453 128114454 + Missense_Mutation DNP GG AA AA TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr10:128114453_128114454GG>AA uc010qum.2 - 9 2400_2401 c.2370_2371CC>TT c.(2368-2373)ctcctt>ctTTtt p.L791F C10orf90_uc001ljp.3_Missense_Mutation_p.L550F|C10orf90_uc001ljq.3_Missense_Mutation_p.L694F NM_001004298 NP_001004298 Q96M02 CJ090_HUMAN Homo sapiens chromosome 10 open reading frame 90 (C10orf90), mRNA. 694 NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(19)|liver(1)|lung(29)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 65 all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203) COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479) TTCCTTTGAAGGAGCTGGTCCA 0.500000 2 17 0 0 6.4e-05 0 0 ZNF780B 163131 broad.mit.edu 37 19 40541351 40541351 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:40541351G>A uc002omu.3 - 4 1480 c.1415C>T c.(1414-1416)cCc>cTc p.P472L ZNF780B_uc002omv.3_Missense_Mutation_p.P324L NM_001005851 NP_001005851 Q9Y6R6 Z780B_HUMAN Homo sapiens zinc finger protein 780B (ZNF780B), mRNA. 472 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 23 all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925) ACATTCAAAGGGTTTCCCACC 0.388000 27 27 0 0 0.00127121 0 0 ABCA4 24 broad.mit.edu 37 1 94476459 94476459 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:94476459G>A uc001dqh.3 - 39 5715 c.5611C>T c.(5611-5613)Cac>Tac p.H1871Y ABCA4_uc001dqi.1_5'UTR|ABCA4_uc009wdp.1_Missense_Mutation_p.H139Y NM_000350 NP_000341 P78363 ABCA4_HUMAN Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 4 (ABCA4), mRNA. 1871 phototransduction, visible light|visual perception integral to plasma membrane|membrane fraction ATP binding|ATPase activity, coupled to transmembrane movement of substances NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 147 all_lung(203;0.000757)|Lung NSC(277;0.00335) all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171) AGGTCCCAGTGGAACGGATTT 0.597000 30 43 0 0 0.00361006 0 0 MUC17 140453 broad.mit.edu 37 7 100676940 100676940 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr7:100676940C>T uc003uxp.1 + 2 2296 c.2243C>T c.(2242-2244)cCa>cTa p.P748L MUC17_uc010lho.1_Non-coding_Transcript NM_001040105 NP_001035194 Q685J3 MUC17_HUMAN Homo sapiens mucin 17, cell surface associated (MUC17), mRNA. 748 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) GGAAGCACTCCATTAACAAGT 0.488000 337 85 0 0 0.00361006 0 0 MINK1 50488 broad.mit.edu 37 17 4789758 4789758 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr17:4789758C>T uc010vsl.2 + 9 1030 c.786C>T c.(784-786)ttC>ttT p.F262F MINK1_uc010vsk.2_Silent_p.F262F|MINK1_uc010vsm.2_Silent_p.F262F|MINK1_uc010vsn.2_Silent_p.F262F|MINK1_uc010vso.2_Silent_p.F207F|MINK1_uc010vsp.2_5'UTR NM_153827 NP_722549 Q8N4C8 MINK1_HUMAN Homo sapiens misshapen-like kinase 1 (MINK1), transcript variant 3, mRNA. 262 Protein kinase. JNK cascade cytoplasm ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1)|stomach(1) 6 CTAAGAAGTTCATTGACTTCA 0.552000 12 330 0 0 0.00361006 0 0 TAP2 6891 broad.mit.edu 37 6 32805777 32805777 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr6:32805777G>A uc011dqf.1 - 1 356 c.234C>T c.(232-234)tcC>tcT p.S78S TAP2_uc003ocb.1_Silent_p.S78S|TAP2_uc003occ.3_Silent_p.S78S|TAP2_uc003ocd.3_Silent_p.S78S NM_018833 NP_061313 Q03519 TAP2_HUMAN Homo sapiens transporter 2, ATP-binding cassette, sub-family B (MDR/TAP) (TAP2), transcript variant 2, mRNA. 78 antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent|cytosol to ER transport|intracellular transport of viral proteins in host cell|peptide antigen transport|positive regulation of T cell mediated cytotoxicity|positive regulation of antigen processing and presentation of peptide antigen via MHC class I TAP complex|nucleus|plasma membrane ATP binding|MHC class I protein binding|TAP1 binding|TAP2 binding|oligopeptide-transporting ATPase activity|peptide antigen binding|peptide antigen-transporting ATPase activity|tapasin binding GGGCTCTCAGGGAGACAGTCA 0.687000 32 22 0 0 0.00332997 0 0 ART1 417 broad.mit.edu 37 11 3685408 3685408 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr11:3685408G>A uc001lye.1 + 4 1074 c.973G>A c.(973-975)Ggc>Agc p.G325S NM_004314 NP_004305 P52961 NAR1_HUMAN Homo sapiens ADP-ribosyltransferase 1 (ART1), mRNA. 325 protein ADP-ribosylation anchored to membrane|integral to plasma membrane|sarcoplasmic reticulum membrane NAD(P)+-protein-arginine ADP-ribosyltransferase activity|NAD+ ADP-ribosyltransferase activity endometrium(1)|large_intestine(2)|liver(1)|lung(3)|skin(1) 8 Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227) BRCA - Breast invasive adenocarcinoma(625;0.0351)|LUSC - Lung squamous cell carcinoma(625;0.195) Becaplermin(DB00102) AGATGGTCCAGGCCTCCTTTG 0.577000 56 41 0 0 0.00361006 0 0 DPP4 1803 broad.mit.edu 37 2 162865131 162865131 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:162865131C>T uc002ubz.3 - 21 2489 c.1928G>A c.(1927-1929)gGa>gAa p.G643E DPP4_uc010fpb.3_Missense_Mutation_p.G319E NM_001935 NP_001926 P27487 DPP4_HUMAN Homo sapiens dipeptidyl-peptidase 4 (DPP4), mRNA. 643 T cell activation|T cell costimulation|cell adhesion|endothelial cell migration|negative regulation of extracellular matrix disassembly|positive regulation of cell proliferation|proteolysis|regulation of cell-cell adhesion mediated by integrin|response to hypoxia apical plasma membrane|cell surface|endocytic vesicle|extracellular region|integral to membrane|invadopodium membrane|lamellipodium membrane|membrane raft aminopeptidase activity|dipeptidyl-peptidase activity|protease binding|protein homodimerization activity|receptor activity|receptor binding|serine-type endopeptidase activity p.S642S(1) breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 48 Sitagliptin(DB01261) CACGCCACTTCCCGATCCCAG 0.463000 60 50 0 0 0.00361006 0 0 SI 6476 broad.mit.edu 37 3 164724636 164724636 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr3:164724636G>A uc003fei.3 - 36 4437 c.4374C>T c.(4372-4374)ctC>ctT p.L1458L NM_001041 NP_001032 P14410 SUIS_HUMAN Homo sapiens sucrase-isomaltase (alpha-glucosidase) (SI), mRNA. 1458 Sucrase. carbohydrate metabolic process|polysaccharide digestion Golgi apparatus|apical plasma membrane|brush border|integral to membrane carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1) 218 Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199) Acarbose(DB00284) ACCATCCATAGAGATTGTGAA 0.348000 HNSCC(35;0.089) 27 26 0 0 0.000878237 0 0 SPTA1 6708 broad.mit.edu 37 1 158607858 158607858 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:158607858G>A uc001fst.1 - 35 5353 c.5154C>T c.(5152-5154)ttC>ttT p.F1718F NM_003126 NP_003117 P02549 SPTA1_HUMAN Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA. 1718 actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6) 307 all_hematologic(112;0.0378) GATCCTGGAAGAACTGGAACA 0.413000 86 32 0 0 0.00327116 0 0 ZNF257 113835 broad.mit.edu 37 19 22271622 22271622 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:22271622C>T uc010ecx.3 + 3 1239 c.1070C>T c.(1069-1071)tCa>tTa p.S357L ZNF257_uc010ecy.3_Missense_Mutation_p.S325L NM_033468 NP_258429 Q9Y2Q1 ZN257_HUMAN Homo sapiens zinc finger protein 257 (ZNF257), mRNA. 357 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding haematopoietic_and_lymphoid_tissue(2)|lung(4) 6 all_lung(12;0.0961)|Lung NSC(12;0.103) AACCGGTCTTCACACCTTACT 0.408000 14 25 0 0 0.00332997 0 0 FNDC3B 64778 broad.mit.edu 37 3 172016555 172016555 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr3:172016555C>T uc003fhy.3 + 8 1211 c.1039C>T c.(1039-1041)Cca>Tca p.P347S FNDC3B_uc003fhz.4_Missense_Mutation_p.P347S|FNDC3B_uc003fia.3_Missense_Mutation_p.P278S NM_022763 NP_073600 Q53EP0 FND3B_HUMAN Homo sapiens fibronectin type III domain containing 3B (FNDC3B), transcript variant 1, mRNA. 347 Fibronectin type-III 1. endoplasmic reticulum|integral to membrane breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(26)|ovary(3)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1) 69 all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165) LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14) GBM - Glioblastoma multiforme(1;0.0494) AGATCTTAGACCAGCAACAGA 0.358000 81 37 0 0 0.00222228 0 0 C1orf168 199920 broad.mit.edu 37 1 57219538 57219538 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:57219538C>T uc001cym.4 - 7 1607 c.1201G>A c.(1201-1203)Gaa>Aaa p.E401K C1orf168_uc009vzu.1_Intron|C1orf168_uc001cyl.3_Non-coding_Transcript NM_001004303 NP_001004303 Q5VWT5 CA168_HUMAN Homo sapiens chromosome 1 open reading frame 168 (C1orf168), mRNA. 401 NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2) 46 GAATATGGTTCCTTTTCTGTG 0.353000 23 30 0 0 0.00209593 0 0 MTUS2 23281 broad.mit.edu 37 13 29599316 29599316 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr13:29599316G>A uc001usl.4 + 0 569 c.511G>A c.(511-513)Gat>Aat p.D171N NM_001033602 NP_001028774 Q5JR59 MTUS2_HUMAN Homo sapiens microtubule associated tumor suppressor candidate 2 (MTUS2), transcript variant 1, mRNA. 161 cytoplasm|microtubule microtubule binding|protein homodimerization activity NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1) 20 TGTTCCCAAGGATAAACTGGC 0.517000 58 25 0 0 0.00106085 0 0 TSIX 9383 broad.mit.edu 37 X 73046552 73046552 + RNA SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chrX:73046552C>T uc004ebn.2 + 0 c.34513C>T XIST_uc004ebm.1_Non-coding_Transcript Homo sapiens TSIX transcript, XIST antisense RNA (non-protein coding) (TSIX), antisense RNA. CTCCAGATTCCGGCCGTTAGT 0.507000 8 49 0 0 0.00361006 0 0 ARAP3 64411 broad.mit.edu 37 5 141033693 141033693 + Nonsense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr5:141033693G>A uc003llm.3 - 32 4537 c.4459C>T c.(4459-4461)Cag>Tag p.Q1487* ARAP3_uc003lll.3_Nonsense_Mutation_p.Q438*|ARAP3_uc011dbe.2_Nonsense_Mutation_p.Q1136*|ARAP3_uc003lln.3_Nonsense_Mutation_p.Q1318* NM_022481 NP_071926 Q8WWN8 ARAP3_HUMAN Homo sapiens ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3 (ARAP3), mRNA. 1487 Pro-rich. cytoskeleton organization|negative regulation of Rho protein signal transduction|negative regulation of cell migration|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle ARF GTPase activator activity|Rho GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|zinc ion binding NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1) 53 CTGAGCTCCTGGAGCAGCTGT 0.657000 47 16 0 0 0.000566183 0 0 FPR2 2358 broad.mit.edu 37 19 52272199 52272199 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:52272199C>T uc002pxr.3 + 1 333 c.288C>T c.(286-288)ttC>ttT p.F96F FPR2_uc002pxs.4_Silent_p.F96F|FPR2_uc010epf.3_Silent_p.F96F|FPR2_uc021uyp.1_Silent_p.F96F NM_001005738 NP_001453 P25090 FPR2_HUMAN Homo sapiens formyl peptide receptor 2 (FPR2), transcript variant 2, mRNA. 96 cell adhesion|cellular component movement|chemotaxis|inflammatory response integral to membrane|plasma membrane N-formyl peptide receptor activity p.W95S(1)|p.W95C(1) endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 33 TTGGCTGGTTCCTGTGTAAGT 0.478000 129 30 0 0 0.00327116 0 0 AQR 9716 broad.mit.edu 37 15 35202380 35202380 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr15:35202380G>A uc001ziv.3 - 16 1800 c.1619C>T c.(1618-1620)aCc>aTc p.T540I NM_014691 NP_055506 O60306 AQR_HUMAN Homo sapiens aquarius homolog (mouse) (AQR), mRNA. 540 catalytic step 2 spliceosome RNA binding breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2) 57 Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08) all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283) GAGATTTATGGTAACATCTGC 0.438000 84 62 0 0 0.00361006 0 0 FAM135B 51059 broad.mit.edu 37 8 139380153 139380153 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr8:139380153C>T uc003yuy.3 - 1 245 c.74G>A c.(73-75)aGa>aAa p.R25K FAM135B_uc003yux.3_5'UTR|FAM135B_uc003yuz.3_Non-coding_Transcript NM_015912 NP_056996 Q49AJ0 F135B_HUMAN Homo sapiens family with sequence similarity 135, member B (FAM135B), mRNA. 25 p.R25T(3) NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 238 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) TACTTACCCTCTCTGAAAGAG 0.388000 HNSCC(54;0.14) 74 25 0 0 0.00395357 0 0 LYZL2 119180 broad.mit.edu 37 10 30901757 30901757 + Missense_Mutation SNP T A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr10:30901757T>A uc001ivk.3 - 3 522 c.509A>T c.(508-510)aAc>aTc p.N170I NM_183058 NP_898881 Q7Z4W2 LYZL2_HUMAN Homo sapiens lysozyme-like 2 (LYZL2), mRNA. 124 cell wall macromolecule catabolic process extracellular region lysozyme activity p.N170Y(1) NS(2)|central_nervous_system(1)|large_intestine(1)|lung(14)|prostate(1) 19 Prostate(175;0.151) TTACCAATAGTTCATTCCTTG 0.423000 38 12 0 0 0.00185496 0 0 OTOGL 283310 broad.mit.edu 37 12 80717528 80717528 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr12:80717528G>A uc001szd.3 + 33 4086 c.4080G>A c.(4078-4080)agG>agA p.R1360R NM_173591 NP_775862 Homo sapiens otogelin-like (OTOGL), mRNA. breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1) 23 TGCCTTACAGGAAGATGTGTG 0.368000 22 27 0 0 0.00106085 0 0 PDAP1 11333 broad.mit.edu 37 7 98995509 98995509 + Silent SNP G T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr7:98995509G>T uc003uqe.3 - 4 597 c.463C>A c.(463-465)Cgg>Agg p.R155R NM_014891 NP_055706 Q13442 HAP28_HUMAN Homo sapiens PDGFA associated protein 1 (PDAP1), mRNA. 155 cell proliferation|signal transduction p.R155Q(1) breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|ovary(2)|prostate(1)|skin(1) 9 all_cancers(62;3.49e-09)|all_epithelial(64;2.57e-10)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166) STAD - Stomach adenocarcinoma(171;0.215) Becaplermin(DB00102) TCCTTCTTCCGGGCAGCCTCC 0.607000 107 7 0.00307968 0.00884575 0.00307968 1 0 KDM3B 51780 broad.mit.edu 37 5 137727415 137727415 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr5:137727415C>T uc003lcy.1 + 7 2294 c.2094C>T c.(2092-2094)tcC>tcT p.S698S KDM3B_uc010jew.1_Silent_p.S354S|KDM3B_uc011cys.1_Intron NM_016604 NP_057688 Q7LBC6 KDM3B_HUMAN Homo sapiens lysine (K)-specific demethylase 3B (KDM3B), mRNA. 698 Ser-rich. chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 65 CAACTGACTCCTCCAAGCTAG 0.582000 22 32 0 0 0.00178596 0 0 IPO13 9670 broad.mit.edu 37 1 44415498 44415498 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:44415498C>T uc001ckx.3 + 1 1289 c.494C>T c.(493-495)gCc>gTc p.A165V NM_014652 NP_055467 O94829 IPO13_HUMAN Homo sapiens importin 13 (IPO13), mRNA. 165 protein import into nucleus cytoplasm|nucleus protein binding|protein transporter activity NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 40 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0821) CGCTGCCTAGCCCTGTTAGAG 0.612000 10 20 0 0 0.00152264 0 0 ATP1B4 23439 broad.mit.edu 37 X 119513344 119513344 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chrX:119513344C>T uc004esr.3 + 7 1013 c.929C>T c.(928-930)cCc>cTc p.P310L ATP1B4_uc004esq.3_Missense_Mutation_p.P306L|ATP1B4_uc011mtx.2_Missense_Mutation_p.P275L|ATP1B4_uc011mty.2_Missense_Mutation_p.P267L NM_001142447 NP_001135919 Q9UN42 AT1B4_HUMAN Homo sapiens ATPase, Na+/K+ transporting, beta 4 polypeptide (ATP1B4), transcript variant 1, mRNA. 310 ATP biosynthetic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to plasma membrane|nuclear inner membrane sodium:potassium-exchanging ATPase activity breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1) 33 TACACATCCCCCTTGGTGGCA 0.473000 5 36 0 0 0.00148497 0 0 OR5T3 390154 broad.mit.edu 37 11 56020467 56020467 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr11:56020467G>A uc010rjd.2 + 0 792 c.792G>A c.(790-792)agG>agA p.R264R NM_001004747 NP_001004747 Q8NGG3 OR5T3_HUMAN Homo sapiens olfactory receptor, family 5, subfamily T, member 3 (OR5T3), mRNA. 264 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.G263R(1) breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3) 39 Esophageal squamous(21;0.00448) CTAAGGGAAGGCAAAAGGCCT 0.413000 93 75 0 0 0.00361006 0 0 C14orf177 283598 broad.mit.edu 37 14 99183513 99183513 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr14:99183513C>T uc001yfz.2 + 3 699 c.280C>T c.(280-282)Cac>Tac p.H94Y NM_182560 NP_872366 Q52M58 CN177_HUMAN Homo sapiens chromosome 14 open reading frame 177 (C14orf177), mRNA. 94 endometrium(1)|kidney(1)|large_intestine(1)|lung(10) 13 Melanoma(154;0.128) GTCATGTAATCACCAAATAAT 0.423000 28 39 0 0 0.00170553 0 0 MKRN2 23609 broad.mit.edu 37 3 12616298 12616298 + Missense_Mutation SNP T A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr3:12616298T>A uc003bxd.3 + 4 706 c.650T>A c.(649-651)aTg>aAg p.M217K MKRN2_uc011aus.2_Missense_Mutation_p.M174K NM_014160 NP_054879 Q9H000 MKRN2_HUMAN Homo sapiens makorin ring finger protein 2 (MKRN2), mRNA. 217 Makorin-type Cys-His. intracellular ligase activity|nucleic acid binding|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(3) 16 CAGATCTGCATGTTGACGTTC 0.547000 39 46 0 0 0.00361006 0 0 SEZ6L2 26470 broad.mit.edu 37 16 29907160 29907160 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr16:29907160G>A uc010vec.2 - 3 778 c.533C>T c.(532-534)tCc>tTc p.S178F BOLA2_uc010bzb.1_Intron|SEZ6L2_uc002dup.4_Missense_Mutation_p.S108F|SEZ6L2_uc002dur.4_Missense_Mutation_p.S108F|SEZ6L2_uc002duq.4_Missense_Mutation_p.S178F|SEZ6L2_uc010ved.2_Missense_Mutation_p.S134F|SEZ6L2_uc002dus.4_Intron NM_001243332 NP_001230261 Q6UXD5 SE6L2_HUMAN Homo sapiens seizure related 6 homolog (mouse)-like 2 (SEZ6L2), transcript variant 5, mRNA. 178 CUB 1. endoplasmic reticulum membrane|integral to membrane|plasma membrane p.S178S(1) breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 TTCGCCCTCGGAGATGTTGTT 0.562000 27 36 0 0 0.0025221 0 0 NFRKB 4798 broad.mit.edu 37 11 129734737 129734737 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr11:129734737G>A uc001qfg.3 - 24 3979 c.3858C>T c.(3856-3858)atC>atT p.I1286I NFRKB_uc001qfi.3_Silent_p.I1261I|NFRKB_uc001qfh.3_Silent_p.I1284I|NFRKB_uc009zcr.3_Silent_p.I547I NM_006165 NP_006156 Q6P4R8 NFRKB_HUMAN Homo sapiens nuclear factor related to kappaB binding protein (NFRKB), transcript variant 2, mRNA. 1261 DNA recombination|DNA repair|inflammatory response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter Ino80 complex DNA binding|protease binding breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(13)|ovary(4)|skin(3)|urinary_tract(1) 32 all_hematologic(175;0.0537) Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186) OV - Ovarian serous cystadenocarcinoma(99;0.0167)|Lung(977;0.171)|LUSC - Lung squamous cell carcinoma(976;0.184) GGACAGTCTGGATGCGCACCT 0.532000 9 48 0 0 0.00361006 0 0 AMPH 273 broad.mit.edu 37 7 38433665 38433665 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr7:38433665G>A uc003tgu.3 - 17 1764 c.1548C>T c.(1546-1548)acC>acT p.T516T AMPH_uc003tgv.3_Silent_p.T474T|AMPH_uc003tgt.3_Silent_p.T401T|AMPH_uc003tgw.1_Silent_p.T539T|AMPH_uc010kxl.1_Non-coding_Transcript NM_001635 NP_001626 P49418 AMPH_HUMAN Homo sapiens amphiphysin (AMPH), transcript variant 1, mRNA. 516 endocytosis|synaptic transmission actin cytoskeleton|cell junction|synaptic vesicle membrane breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2) 62 CACCCTCAGTGGTTTCAGTTC 0.602000 85 64 0 0 0.00361006 0 0 SCRN1 9805 broad.mit.edu 37 7 29966239 29966239 + Missense_Mutation SNP G T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr7:29966239G>T uc011kaa.2 - 6 1024 c.975C>A c.(973-975)ttC>ttA p.F325L SCRN1_uc011jzy.2_Missense_Mutation_p.F237L|SCRN1_uc003tak.3_Missense_Mutation_p.F305L|SCRN1_uc011jzz.2_Missense_Mutation_p.F305L|SCRN1_uc011jzw.2_Missense_Mutation_p.F172L|SCRN1_uc010kvp.3_Missense_Mutation_p.F305L|SCRN1_uc011jzx.2_Missense_Mutation_p.F128L NM_001145514 NP_001138986 Q12765 SCRN1_HUMAN Homo sapiens secernin 1 (SCRN1), transcript variant 3, mRNA. 305 exocytosis|proteolysis cytoplasm|nuclear membrane dipeptidase activity breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|ovary(2)|prostate(2)|skin(2) 25 TGAAAGGCTTGAATATGGACC 0.512000 34 27 4.22769e-11 1.23103e-10 0.00106085 1 0 IPO7 10527 broad.mit.edu 37 11 9459706 9459706 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr11:9459706G>A uc001mho.3 + 21 2711 c.2569G>A c.(2569-2571)Gtt>Att p.V857I NM_006391 NP_006382 O95373 IPO7_HUMAN Homo sapiens importin 7 (IPO7), mRNA. 857 interspecies interaction between organisms|signal transduction Golgi apparatus|nuclear pore|soluble fraction Ran GTPase binding|protein transporter activity|small GTPase regulator activity NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217) TTTAAATCAGGTTTCTGGACA 0.363000 73 67 0 0 0.00361006 0 0 CFH 3075 broad.mit.edu 37 1 196694353 196694353 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:196694353G>A uc001gtj.4 + 11 2039 c.1799G>A c.(1798-1800)gGa>gAa p.G600E CFH_uc021pgt.1_Intron NM_000186 NP_000177 P08603 CFAH_HUMAN Homo sapiens complement factor H (CFH), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 600 Sushi 10. complement activation, alternative pathway extracellular space NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 101 TGCAAACCAGGATTTACAATA 0.398000 19 35 0 0 0.00327116 0 0 KRT6C 286887 broad.mit.edu 37 12 52867508 52867508 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr12:52867508G>A uc001sal.4 - 0 62 c.14C>T c.(13-15)tCc>tTc p.S5F NM_173086 NP_775109 P48668 K2C6C_HUMAN Homo sapiens keratin 6C (KRT6C), mRNA. 5 Head. cytoskeleton organization keratin filament structural molecule activity cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|prostate(2)|skin(2) 23 BRCA - Breast invasive adenocarcinoma(357;0.0828) GATGGTGGTGGATGTGCTGGC 0.642000 23 16 0 0 0.000720815 0 0 CYFIP1 23191 broad.mit.edu 37 15 22945107 22945107 + Missense_Mutation SNP T A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr15:22945107T>A uc001yus.3 + 11 1282 c.1178T>A c.(1177-1179)cTg>cAg p.L393Q CYFIP1_uc001yut.3_Missense_Mutation_p.L393Q|CYFIP1_uc010aya.1_Missense_Mutation_p.L421Q NM_014608 NP_055423 Q7L576 CYFP1_HUMAN Homo sapiens cytoplasmic FMR1 interacting protein 1 (CYFIP1), transcript variant 1, mRNA. 393 axon extension|lamellipodium assembly|regulation of cell shape|ruffle organization cell junction|lamellipodium|mRNA cap binding complex|perinuclear region of cytoplasm|ruffle|synapse|synaptosome Rac GTPase binding|actin filament binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 40 all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488) all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101) CTCTTCGACCTGGCGCTGCAG 0.701000 9 10 0 0 0.000673444 0 0 ARRDC4 91947 broad.mit.edu 37 15 98512549 98512549 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr15:98512549C>T uc010bom.3 + 4 981 c.822C>T c.(820-822)atC>atT p.I274I ARRDC4_uc002bui.4_Silent_p.I187I NM_183376 NP_899232 Q8NCT1 ARRD4_HUMAN Homo sapiens arrestin domain containing 4 (ARRDC4), mRNA. 274 signal transduction breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|skin(3) 16 Melanoma(26;0.00539)|Lung NSC(78;0.0125)|all_lung(78;0.0222) OV - Ovarian serous cystadenocarcinoma(32;0.0417) CGCTAAAAATCCCACCTGTTA 0.433000 24 37 0 0 0.00128727 0 0 SHC3 53358 broad.mit.edu 37 9 91666967 91666967 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr9:91666967G>A uc004aqf.2 - 6 1254 c.947C>T c.(946-948)cCc>cTc p.P316L NM_016848 NP_058544 Q92529 SHC3_HUMAN Homo sapiens SHC (Src homology 2 domain containing) transforming protein 3 (SHC3), mRNA. 316 PID. Ras protein signal transduction|central nervous system development|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway cytosol protein binding|signal transducer activity breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|skin(3) 28 ATGGAGAGCGGGAATCTTGGT 0.488000 8 51 0 0 0.00361006 0 0 AGPAT6 137964 broad.mit.edu 37 8 41470463 41470463 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr8:41470463C>T uc003xnz.2 + 7 1834 c.895C>T c.(895-897)Cac>Tac p.H299Y NM_178819 NP_848934 Q86UL3 GPAT4_HUMAN Homo sapiens 1-acylglycerol-3-phosphate O-acyltransferase 6 (lysophosphatidic acid acyltransferase, zeta) (AGPAT6), mRNA. 299 acyl-CoA metabolic process|lactation|phosphatidylcholine biosynthetic process|triglyceride biosynthetic process endoplasmic reticulum membrane|integral to membrane|membrane fraction glycerol-3-phosphate O-acyltransferase activity endometrium(3)|kidney(2)|large_intestine(3)|lung(6) 14 Ovarian(28;0.00769)|Colorectal(14;0.0202)|Lung SC(25;0.211) all_lung(54;0.0131)|Lung NSC(58;0.0363)|Hepatocellular(245;0.0462)|Esophageal squamous(32;0.0844) OV - Ovarian serous cystadenocarcinoma(14;0.00126)|Colorectal(10;0.0014)|Lung(22;0.00177)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0147) GAAGGATCGCCACCTGGTGGC 0.542000 OREG0018739 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 13 7 0 0 0.000274275 0 0 NAGA 4668 broad.mit.edu 37 22 42463911 42463912 + Missense_Mutation DNP CG AT AT TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr22:42463911_42463912CG>AT uc003bbw.4 - 2 726_727 c.181_182CG>AT c.(181-183)cgg>ATg p.R61M NM_000262 NP_000253 P17050 NAGAB_HUMAN Homo sapiens N-acetylgalactosaminidase, alpha- (NAGA), mRNA. 61 glycoside catabolic process|glycosylceramide catabolic process|oligosaccharide metabolic process lysosome alpha-N-acetylgalactosaminidase activity|alpha-galactosidase activity|cation binding|protein homodimerization activity central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1) 11 CTGTGCCATCCGGTCAGCCATC 0.614000 259 10 0 0 6.4e-05 0 0 MYOM3 127294 broad.mit.edu 37 1 24426247 24426247 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:24426247C>T uc001bin.4 - 5 742 c.579G>A c.(577-579)cgG>cgA p.R193R MYOM3_uc001bio.3_Silent_p.R193R|MYOM3_uc001bip.1_5'UTR NM_152372 NP_689585 Q5VTT5 MYOM3_HUMAN Homo sapiens myomesin family, member 3 (MYOM3), mRNA. 193 Ig-like C2-type 1. NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2) 68 Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153) GGGGATCAATCCGTGTGTCAT 0.567000 50 14 0 0 0.00074312 0 0 MCAM 4162 broad.mit.edu 37 11 119181572 119181572 + Missense_Mutation SNP C G G TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr11:119181572C>G uc001pwf.3 - 13 1716 c.1687G>C c.(1687-1689)Gtg>Ctg p.V563L MCAM_uc001pwg.1_Non-coding_Transcript NM_006500 NP_006491 P43121 MUC18_HUMAN Homo sapiens melanoma cell adhesion molecule (MCAM), mRNA. 563 anatomical structure morphogenesis|cell adhesion integral to membrane|plasma membrane breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|skin(1) 22 Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;3.78e-05) ATCACAGCCACGATGACCACG 0.617000 70 24 0 0 0.000720815 0 0 OR10H1 26539 broad.mit.edu 37 19 15918208 15918208 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:15918208G>A uc002nbq.2 - 0 729 c.640C>T c.(640-642)Ctc>Ttc p.L214F NM_013940 NP_039228 Q9Y4A9 O10H1_HUMAN Homo sapiens olfactory receptor, family 10, subfamily H, member 1 (OR10H1), mRNA. 214 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.L214F(2)|p.L214L(1) cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|skin(2)|urinary_tract(1) 29 AGGAGGATGAGGAGAAAACAG 0.577000 40 17 0 0 0.000720815 0 0 PCNX 22990 broad.mit.edu 37 14 71435813 71435813 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr14:71435813G>A uc001xmo.2 + 4 1036 c.590G>A c.(589-591)gGa>gAa p.G197E PCNX_uc001xmn.4_Missense_Mutation_p.G197E|PCNX_uc010are.1_Missense_Mutation_p.G197E NM_014982 NP_055797 Q96RV3 PCX1_HUMAN Homo sapiens pecanex homolog (Drosophila) (PCNX), mRNA. 197 integral to membrane NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1) 87 KIRC - Kidney renal clear cell carcinoma(12;0.206) all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417) TGTAAGGAAGGAAGTGAAGAA 0.368000 84 99 0 0 0.00361006 0 0 LINGO4 339398 broad.mit.edu 37 1 151773936 151773936 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:151773936G>A uc001ezf.1 - 1 1435 c.1245C>T c.(1243-1245)atC>atT p.I415I LINGO4_uc021oyu.1_Silent_p.I415I NM_001004432 NP_001004432 Q6UY18 LIGO4_HUMAN Homo sapiens leucine rich repeat and Ig domain containing 4 (LINGO4), mRNA. 415 Ig-like C2-type. integral to membrane breast(2)|cervix(1)|endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 21 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14) LUSC - Lung squamous cell carcinoma(543;0.181) CCGACTTTCGGATCAGGGCTG 0.612000 30 44 0 0 0.00361006 0 0 CELSR2 1952 broad.mit.edu 37 1 109810212 109810212 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:109810212C>T uc001dxa.4 + 15 6117 c.6056C>T c.(6055-6057)cCc>cTc p.P2019L NM_001408 NP_001399 Q9HCU4 CELR2_HUMAN Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 2 (flamingo homolog, Drosophila) (CELSR2), mRNA. 2019 Wnt receptor signaling pathway|dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent cytoplasm|integral to membrane|plasma membrane G-protein coupled receptor activity|calcium ion binding|protein binding NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2) 82 all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244) Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219) GGGTGGCTCCCCCCAAACCTC 0.587000 341 83 0 0 0.00361006 0 0 OR4B1 119765 broad.mit.edu 37 11 48239290 48239290 + Splice_Site SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr11:48239290G>A uc010rhs.2 + 1 930 c.930_splice c.e1+1 p.*310_splice NM_001005470 NP_001005470 Q8NGF8 OR4B1_HUMAN Homo sapiens olfactory receptor, family 4, subfamily B, member 1 (OR4B1), mRNA. 0 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.*310*(1) breast(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 28 GGGAGGGAGTGAAAAAAGAGC 0.398000 11 18 0 0 0.000958276 0 0 BDP1 55814 broad.mit.edu 37 5 70837355 70837355 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr5:70837355C>T uc003kbp.1 + 28 6360 c.6097C>T c.(6097-6099)Cac>Tac p.H2033Y BDP1_uc003kbo.3_Missense_Mutation_p.H2033Y|BDP1_uc003kbq.1_Non-coding_Transcript|BDP1_uc003kbr.1_Non-coding_Transcript NM_018429 NP_060899 A6H8Y1 BDP1_HUMAN Homo sapiens B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB (BDP1), mRNA. 2033 regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter nucleoplasm DNA binding NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 72 Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50) TAATGTAAATCACAAAATTGT 0.313000 126 74 0 0 0.00361006 0 0 PCDHAC2 56134 broad.mit.edu 37 5 140263148 140263148 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr5:140263148C>T uc003lif.2 + 0 1295 c.1295C>T c.(1294-1296)tCg>tTg p.S432L PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc003lic.2_Intron|PCDHAC2_uc003lie.1_Missense_Mutation_p.S432L|PCDHAC2_uc003lid.3_Missense_Mutation_p.S432L NM_018904 NP_061727 Q9Y5I4 PCDC2_HUMAN Homo sapiens protocadherin alpha 13 (PCDHA13), transcript variant 1, mRNA. 446 Cadherin 4. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 45 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GACGGGGGCTCGCCTTCGCTG 0.652000 65 57 0 0 0.00361006 0 0 KRTAP11-1 337880 broad.mit.edu 37 21 32253821 32253821 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr21:32253821C>T uc002yov.3 - 0 54 c.23G>A c.(22-24)aGa>aAa p.R8K NM_175858 NP_787054 Q8IUC1 KR111_HUMAN Homo sapiens keratin associated protein 11-1 (KRTAP11-1), mRNA. 8 keratin filament structural molecule activity p.R8I(2) breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(12)|pancreas(1) 18 AGAGCAATTTCTTGTGGAGCA 0.532000 78 52 0 0 0.00361006 0 0 TECTA 7007 broad.mit.edu 37 11 121008598 121008598 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr11:121008598C>T uc010rzo.2 + 9 3410 c.3410C>T c.(3409-3411)tCt>tTt p.S1137F NM_005422 NP_005413 O75443 TECTA_HUMAN Homo sapiens tectorin alpha (TECTA), mRNA. 1137 VWFD 3. cell-matrix adhesion|sensory perception of sound anchored to membrane|plasma membrane|proteinaceous extracellular matrix TECTA/TBCEL(2) NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 135 all_hematologic(175;0.208) Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166) AGCTCAGACTCTTTCCCCAAG 0.567000 1 22 0 0 0.00229938 0 0 SLC52A3 113278 broad.mit.edu 37 20 746275 746275 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr20:746275G>A uc002wed.4 - 1 483 c.144C>T c.(142-144)atC>atT p.I48I SLC52A3_uc002wee.2_Silent_p.I48I NM_033409 NP_212134 Q9NQ40 RFT2_HUMAN Homo sapiens chromosome 20 open reading frame 54 (C20orf54), mRNA. 48 sensory perception of sound integral to plasma membrane riboflavin transporter activity TGGCCAGCTGGATGACCACCG 0.647000 10 11 0 0 0.000978159 0 0 KRT2 3849 broad.mit.edu 37 12 53038892 53038892 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr12:53038892C>T uc001sat.3 - 8 1864 c.1831G>A c.(1831-1833)Gga>Aga p.G611R NM_000423 NP_000414 P35908 K22E_HUMAN Homo sapiens keratin 2 (KRT2), mRNA. 611 Tail. keratinization|keratinocyte activation|keratinocyte migration|keratinocyte proliferation Golgi apparatus|keratin filament protein binding|structural constituent of cytoskeleton endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(18)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 32 BRCA - Breast invasive adenocarcinoma(357;0.19) GAGCCATATCCTCCTCCAGAG 0.542000 79 27 0 0 0.000720815 0 0 NFATC1 4772 broad.mit.edu 37 18 77170711 77170711 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr18:77170711C>T uc010xfg.2 + 1 889 c.436C>T c.(436-438)Cct>Tct p.P146S NFATC1_uc002lnc.1_Missense_Mutation_p.P146S|NFATC1_uc010xff.1_Missense_Mutation_p.P146S|NFATC1_uc002lnd.3_Missense_Mutation_p.P146S|NFATC1_uc002lne.3_Intron|NFATC1_uc010xfh.2_Missense_Mutation_p.P146S|NFATC1_uc010xfi.1_Missense_Mutation_p.P133S|NFATC1_uc010xfj.2_Intron|NFATC1_uc002lnf.3_Missense_Mutation_p.P133S|NFATC1_uc002lng.3_Missense_Mutation_p.P133S|NFATC1_uc010xfk.2_Missense_Mutation_p.P133S NM_006162 NP_006153 O95644 NFAC1_HUMAN Homo sapiens nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1 (NFATC1), transcript variant 2, mRNA. 146 Trans-activation domain A (TAD-A). intracellular signal transduction|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter cytoplasm|nucleus FK506 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1) 40 Esophageal squamous(42;0.0157)|Melanoma(33;0.144) OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257) AGACGTCCTCCCTAGCTCCAA 0.622000 18 23 0 0 0.00395357 0 0 HEATR8 374977 broad.mit.edu 37 1 55158216 55158216 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:55158216G>A uc010ooe.1 + 15 3155 c.2831G>A c.(2830-2832)gGa>gAa p.G944E HEATR8_uc001cxq.3_Non-coding_Transcript|HEATR8_uc010ooc.1_Missense_Mutation_p.G512E|HEATR8_uc010ood.1_Missense_Mutation_p.G462E|HEATR8_uc001cxs.2_Non-coding_Transcript|HEATR8_uc010oof.1_Non-coding_Transcript|HEATR8_uc001cxr.1_Non-coding_Transcript|HEATR8_uc010oog.1_Missense_Mutation_p.G944E|HEATR8_uc010ooh.1_Non-coding_Transcript|HEATR8_uc009vzq.1_Non-coding_Transcript|HEATR8_uc001cxt.1_Non-coding_Transcript|HEATR8_uc009vzr.1_Missense_Mutation_p.G146E|HEATR8_uc001cxu.3_Missense_Mutation_p.G90E NM_001039464 NP_001034553 Q68CQ1 HEAT8_HUMAN Homo sapiens HEAT repeat containing 8 (HEATR8), transcript variant 1, mRNA. 944 integral to membrane binding p.R943R(1) breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(17)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 CACCACCGCGGAGTGGCCTTG 0.612000 34 16 0 0 0.000422831 0 0 FGFRL1 53834 broad.mit.edu 37 4 1018188 1018188 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr4:1018188G>A uc003gce.3 + 5 969 c.808G>A c.(808-810)Gtg>Atg p.V270M FGFRL1_uc003gcf.3_Missense_Mutation_p.V270M|FGFRL1_uc003gcg.3_Missense_Mutation_p.V270M|FGFRL1_uc010ibo.3_Missense_Mutation_p.V270M NM_021923 NP_068742 Q8N441 FGRL1_HUMAN Homo sapiens fibroblast growth factor receptor-like 1 (FGFRL1), transcript variant 3, mRNA. 270 Ig-like C2-type 3. regulation of cell growth integral to membrane|plasma membrane fibroblast growth factor receptor activity|heparin binding endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(1) 13 OV - Ovarian serous cystadenocarcinoma(23;0.0158) CCAGTGCAAGGTGCGCAGCGA 0.662000 35 17 0 0 0.00152264 0 0 MTOR 2475 broad.mit.edu 37 1 11190630 11190630 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:11190630C>T uc001asd.3 - 38 5690 c.5569G>A c.(5569-5571)Gag>Aag p.E1857K MTOR_uc001asc.3_Missense_Mutation_p.E62K NM_004958 NP_004949 P42345 MTOR_HUMAN Homo sapiens mechanistic target of rapamycin (serine/threonine kinase) (MTOR), mRNA. 1857 FAT. T cell costimulation|TOR signaling cascade|cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient Golgi membrane|PML body|TORC1 complex|TORC2 complex|endoplasmic reticulum membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex ATP binding|phosphoprotein binding|protein serine/threonine kinase activity breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 149 GGGCTGTTCTCGGTGCTCTCG 0.612000 7 59 0 0 0.00361006 0 0 ZNF711 7552 broad.mit.edu 37 X 84526691 84526691 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chrX:84526691G>A uc004eeq.3 + 9 3167 c.2281G>A c.(2281-2283)Gat>Aat p.D761N ZNF711_uc004eep.3_Missense_Mutation_p.D715N|ZNF711_uc004eeo.3_Missense_Mutation_p.D715N|ZNF711_uc011mqy.1_Missense_Mutation_p.D314N NM_021998 NP_068838 Q9Y462 ZN711_HUMAN Homo sapiens zinc finger protein 711 (ZNF711), mRNA. 715 positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding|sequence-specific DNA binding|zinc ion binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(3)|skin(4) 28 CAGCACTACAGATGCATCTGG 0.378000 3 25 0 0 0.00395357 0 0 TG 7038 broad.mit.edu 37 8 134042158 134042158 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr8:134042158C>T uc003ytw.3 + 40 7170 c.7129C>T c.(7129-7131)Cct>Tct p.P2377S TG_uc010mdw.3_Missense_Mutation_p.P1136S|TG_uc011ljb.2_Missense_Mutation_p.P746S|TG_uc011ljc.2_Missense_Mutation_p.P510S NM_003235 NP_003226 P01266 THYG_HUMAN Homo sapiens thyroglobulin (TG), mRNA. 2377 hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation extracellular space hormone activity NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8) 168 Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735) BRCA - Breast invasive adenocarcinoma(115;0.000701) KIRC - Kidney renal clear cell carcinoma(542;0.0546) TGGCGGGGACCCTCGGCGCGT 0.662000 44 17 0 0 0.00074312 0 0 CLK1 1195 broad.mit.edu 37 2 201718127 201718127 + Missense_Mutation SNP G T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:201718127G>T uc002uwe.2 - 12 1538 c.1357C>A c.(1357-1359)Ctc>Atc p.L453I CLK1_uc010zhi.1_Missense_Mutation_p.L495I|CLK1_uc002uwf.2_Missense_Mutation_p.L227I|CLK1_uc002uwg.2_Missense_Mutation_p.L302I NM_004071 NP_004062 P49759 CLK1_HUMAN Homo sapiens CDC-like kinase 1 (CLK1), transcript variant 1, mRNA. 453 Protein kinase. cell proliferation nucleus ATP binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity NS(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(12)|ovary(1)|pancreas(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 33 TTCTGAATGAGGTCAAAGAGA 0.363000 45 54 4.6707e-30 1.37183e-29 0.00361006 1 0 SCN4A 6329 broad.mit.edu 37 17 62018802 62018802 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr17:62018802C>T uc002jds.1 - 23 4917 c.4840G>A c.(4840-4842)Gaa>Aaa p.E1614K NM_000334 NP_000325 P35499 SCN4A_HUMAN Homo sapiens sodium channel, voltage-gated, type IV, alpha subunit (SCN4A), mRNA. 1614 muscle contraction voltage-gated sodium channel complex voltage-gated sodium channel activity breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 101 Lamotrigine(DB00555) AAGTCATCTTCACCAAGGGGC 0.532000 21 29 0 0 0.00106085 0 0 GRIN2B 2904 broad.mit.edu 37 12 13716388 13716388 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr12:13716388C>T uc001rbt.2 - 12 3963 c.3784G>A c.(3784-3786)Gaa>Aaa p.E1262K NM_000834 NP_000825 Q13224 NMDE2_HUMAN Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2B (GRIN2B), mRNA. 1262 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|glycine binding|zinc ion binding p.Q1261*(1) NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1) 143 Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) TGGTCCAGTTCCTGCAGGGAG 0.597000 44 15 0 0 0.00316338 0 0 TRANK1 9881 broad.mit.edu 37 3 36872628 36872628 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr3:36872628C>T uc003cgj.3 - 20 8562 c.8314G>A c.(8314-8316)Gag>Aag p.E2772K NM_014831 NP_055646 O15050 TRNK1_HUMAN Homo sapiens tetratricopeptide repeat and ankyrin repeat containing 1 (TRANK1), mRNA. 2772 DNA repair ATP binding|ATP-dependent DNA helicase activity|DNA binding p.E2215*(1)|p.E2772*(1)|p.E2222*(1) NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 73 TCGTAAGACTCGCTGTTCCTC 0.547000 85 32 0 0 0.00111076 0 0 LPCAT4 254531 broad.mit.edu 37 15 34651861 34651861 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr15:34651861G>A uc001zig.3 - 12 1422 c.1328C>T c.(1327-1329)tCa>tTa p.S443L NM_153613 NP_705841 Q643R3 LPCT4_HUMAN Homo sapiens lysophosphatidylcholine acyltransferase 4 (LPCAT4), mRNA. 443 phospholipid biosynthetic process endoplasmic reticulum membrane|integral to membrane acyltransferase activity|calcium ion binding NS(1)|breast(1)|large_intestine(2)|lung(5)|prostate(1) 10 AGGGTGGGGTGAACCCAGCAG 0.602000 29 21 0 0 0.00121646 0 0 CABP1 9478 broad.mit.edu 37 12 121098548 121098548 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr12:121098548G>A uc001tyu.3 + 3 911 c.844G>A c.(844-846)Gat>Aat p.D282N CABP1_uc001tyv.3_Missense_Mutation_p.D139N|CABP1_uc001tyw.3_Missense_Mutation_p.D79N|CABP1_uc001tyx.3_Missense_Mutation_p.D124N NM_001033677 NP_001028849 Q9NZU7 CABP1_HUMAN Homo sapiens calcium binding protein 1 (CABP1), transcript variant 3, mRNA. 282 EF-hand 2. Golgi apparatus|cell cortex|cell junction|perinuclear region of cytoplasm|postsynaptic density|postsynaptic membrane calcium ion binding|calcium-dependent protein binding|enzyme inhibitor activity|protein binding central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(6) 9 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) TGGCCATGTAGATTTTGATGA 0.502000 240 84 0 0 0.00361006 0 0 ZNF701 55762 broad.mit.edu 37 19 53085749 53085749 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:53085749C>T uc010ydn.2 + 4 698 c.635C>T c.(634-636)tCg>tTg p.S212L ZNF701_uc002pzs.2_Missense_Mutation_p.S146L|ZNF701_uc021uyw.1_Missense_Mutation_p.S212L NM_018260 NP_060730 Q9NV72 ZN701_HUMAN Homo sapiens zinc finger protein 701 (ZNF701), transcript variant 2, mRNA. 146 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(5)|kidney(1)|large_intestine(2)|lung(6) 14 OV - Ovarian serous cystadenocarcinoma(262;0.0105)|GBM - Glioblastoma multiforme(134;0.0402) AGCTTTCATTCGCATCTGCCT 0.408000 122 24 0 0 0.00106085 0 0 IK 3550 broad.mit.edu 37 5 140035472 140035472 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr5:140035472C>T uc003lgq.3 + 8 806 c.696C>T c.(694-696)ttC>ttT p.F232F IK_uc011czk.1_Silent_p.F232F|IK_uc021yen.1_Silent_p.F173F NM_006083 NP_006074 Q13123 RED_HUMAN Homo sapiens IK cytokine, down-regulator of HLA II (IK), mRNA. 232 cell-cell signaling|immune response extracellular space|nucleus|soluble fraction large_intestine(1) 1 all_hematologic(541;4.8e-07)|all_lung(500;0.000434)|Lung NSC(810;0.00161)|Breast(839;0.128) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ATGAGTTGTTCCTGCCGGGCC 0.502000 10 9 0 0 0.000673444 0 0 SIGLEC1 6614 broad.mit.edu 37 20 3678723 3678724 + Missense_Mutation DNP CC TT TT TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr20:3678723_3678724CC>TT uc002wja.3 - 7 1843_1844 c.1843_1844GG>AA c.(1843-1845)ggg>AAg p.G615K SIGLEC1_uc002wiz.4_Missense_Mutation_p.G615K NM_023068 NP_075556 Q9BZZ2 SN_HUMAN Homo sapiens sialic acid binding Ig-like lectin 1, sialoadhesin (SIGLEC1), mRNA. 615 Ig-like C2-type 6. cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response extracellular region|integral to membrane|plasma membrane sugar binding NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1) 70 CCGTCCAGCCCCGGCCCCAGCG 0.653000 10 8 0 0 6.4e-05 0 0 TNK1 8711 broad.mit.edu 37 17 7287889 7287889 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr17:7287889C>T uc002ggi.4 + 6 1185 c.953C>T c.(952-954)tCc>tTc p.S318F TNK1_uc002ggj.4_Missense_Mutation_p.S318F|TNK1_uc010cmf.3_Non-coding_Transcript NM_001251902 NP_001238831 Q13470 TNK1_HUMAN Homo sapiens tyrosine kinase, non-receptor, 1 (TNK1), transcript variant 1, mRNA. 318 Protein kinase. protein autophosphorylation membrane ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding|signal transducer activity central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(2)|pancreas(1) 16 Prostate(122;0.157) GAGATGTTCTCCGGGGGCGAG 0.682000 2 19 0 0 0.00188189 0 0 SLCO5A1 81796 broad.mit.edu 37 8 70585174 70585174 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr8:70585174G>A uc003xyl.3 - 9 3184 c.2477C>T c.(2476-2478)cCa>cTa p.P826L SLCO5A1_uc010lzb.3_Missense_Mutation_p.P771L|SLCO5A1_uc011lfa.2_Non-coding_Transcript|SLCO5A1_uc003xyk.3_3'UTR NM_030958 NP_112220 Q9H2Y9 SO5A1_HUMAN Homo sapiens solute carrier organic anion transporter family, member 5A1 (SLCO5A1), transcript variant 1, mRNA. 826 integral to membrane|plasma membrane transporter activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 53 Breast(64;0.0654) Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594) TATTGCTTCTGGGAAGGGCCC 0.562000 54 45 0 0 0.00361006 0 0 PLCH2 9651 broad.mit.edu 37 1 2421304 2421304 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:2421304G>A uc001aji.1 + 9 1784 c.1510G>A c.(1510-1512)Gat>Aat p.D504N PLCH2_uc010nyz.2_Missense_Mutation_p.D293N|PLCH2_uc009vle.1_Missense_Mutation_p.D293N|PLCH2_uc001ajj.1_Missense_Mutation_p.D293N|PLCH2_uc001ajk.1_Missense_Mutation_p.D293N NM_014638 NP_055453 O75038 PLCH2_HUMAN Homo sapiens phospholipase C, eta 2 (PLCH2), mRNA. 505 intracellular signal transduction|lipid catabolic process cytoplasm|plasma membrane calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(3)|skin(1) 20 all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634) all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217) Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2) CCTCAATGGGGATGTGAGTCG 0.592000 26 50 0 0 0.00361006 0 0 PAQR5 54852 broad.mit.edu 37 15 69695940 69695940 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr15:69695940C>T uc002arz.2 + 8 1150 c.772C>T c.(772-774)Cac>Tac p.H258Y PAQR5_uc002asa.2_Missense_Mutation_p.H258Y NM_017705 NP_060175 Q9NXK6 MPRG_HUMAN Homo sapiens progestin and adipoQ receptor family member V (PAQR5), transcript variant 2, mRNA. 258 cell differentiation|multicellular organismal development|oogenesis integral to membrane receptor activity|steroid binding endometrium(3)|kidney(2)|large_intestine(1)|lung(2)|ovary(2)|skin(1) 11 CCAGCTGTTTCACGTGTGTGT 0.493000 26 32 0 0 0.000953801 0 0 KIFC1 3833 broad.mit.edu 37 6 33372875 33372875 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr6:33372875C>T uc003oef.4 + 6 1453 c.1003C>T c.(1003-1005)Ccc>Tcc p.P335S KIFC1_uc011drf.2_Missense_Mutation_p.P327S NM_002263 NP_002254 Q9BW19 KIFC1_HUMAN Homo sapiens kinesin family member C1 (KIFC1), mRNA. 335 Kinesin-motor. blood coagulation|cell division|microtubule-based movement|mitotic sister chromatid segregation early endosome|microtubule|microtubule associated complex|microtubule organizing center|nucleus|spindle ATP binding|microtubule motor activity endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1) 13 CCTCCTGTTTCCCTCTGGCCC 0.677000 72 54 0 0 0.00361006 0 0 INPPL1 3636 broad.mit.edu 37 11 71948326 71948326 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr11:71948326C>T uc001osf.3 + 25 3185 c.3038C>T c.(3037-3039)aCc>aTc p.T1013I INPPL1_uc001osg.3_Missense_Mutation_p.T771I NM_001567 NP_001558 O15357 SHIP2_HUMAN Homo sapiens inositol polyphosphate phosphatase-like 1 (INPPL1), mRNA. 1013 Pro-rich. actin filament organization|cell adhesion|endocytosis actin cortical patch|cytosol SH2 domain binding|SH3 domain binding|actin binding breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 44 CCATCTGCCACCAAGAACAAA 0.627000 91 40 0 0 0.00195071 0 0 SPATA13 221178 broad.mit.edu 37 13 24874551 24874551 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr13:24874551C>T uc001upd.2 + 13 4174 c.3596C>T c.(3595-3597)tCa>tTa p.S1199L SPATA13_uc001upe.3_Non-coding_Transcript|SPATA13_uc021rhg.1_Missense_Mutation_p.S1199L|SPATA13_uc001upg.2_Missense_Mutation_p.S574L|SPATA13_uc010tcy.1_Missense_Mutation_p.S520L|SPATA13_uc010tcz.2_Missense_Mutation_p.S458L|SPATA13_uc010tdb.2_Missense_Mutation_p.S434L|SPATA13_uc010tda.2_Missense_Mutation_p.S518L|SPATA13_uc001uph.3_Missense_Mutation_p.S496L|SPATA13_uc009zzz.2_Silent_p.F131F|SPATA13_uc001upi.1_Missense_Mutation_p.S80L NM_153023 NP_694568 Q96N96 SPT13_HUMAN Homo sapiens spermatogenesis associated 13 (SPATA13), transcript variant 2, mRNA. 574 cell migration|filopodium assembly|lamellipodium assembly|regulation of Rho protein signal transduction|regulation of cell migration cytoplasm|filopodium|lamellipodium|ruffle membrane Rac guanyl-nucleotide exchange factor activity|protein binding breast(4)|endometrium(2)|large_intestine(9)|lung(4)|ovary(1)|prostate(1)|skin(2) 23 all_cancers(29;4.05e-15)|all_lung(29;2.77e-14)|all_epithelial(30;7.77e-13)|Lung SC(185;0.0279) all cancers(112;0.00616)|Epithelial(112;0.0195)|OV - Ovarian serous cystadenocarcinoma(117;0.0705)|Lung(94;0.231) ATGGAAATTTCAGAAAACCAG 0.368000 22 15 0 0 0.00121646 0 0 COL13A1 1305 broad.mit.edu 37 10 71707091 71707091 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr10:71707091G>A uc001jql.3 + 36 2554 c.2018G>A c.(2017-2019)gGa>gAa p.G673E COL13A1_uc021prz.1_Missense_Mutation_p.G624E|COL13A1_uc021psa.1_Missense_Mutation_p.G601E|COL13A1_uc021psb.1_Missense_Mutation_p.G595E|COL13A1_uc001jqk.2_Missense_Mutation_p.G651E|COL13A1_uc021psc.1_Missense_Mutation_p.G642E|COL13A1_uc021psd.1_Missense_Mutation_p.G624E|COL13A1_uc010qjf.2_Missense_Mutation_p.G601E|COL13A1_uc021pse.1_Missense_Mutation_p.G595E|COL13A1_uc021psf.1_Missense_Mutation_p.G673E|COL13A1_uc021psg.1_Missense_Mutation_p.G651E|COL13A1_uc021psh.1_Missense_Mutation_p.G642E NM_001130103 NP_001123575 Q5TAT6 CODA1_HUMAN Homo sapiens collagen, type XIII, alpha 1 (COL13A1), transcript variant 1, mRNA. 673 Triple-helical region 3 (COL3). cell differentiation|cell-cell adhesion|cell-matrix adhesion|endochondral ossification|morphogenesis of a branching structure collagen type XIII|integral to membrane extracellular matrix structural constituent|heparin binding|protein binding endometrium(5)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 28 Atorvastatin(DB01076)|Simvastatin(DB00641) GGGGACAAGGGAAACCGGGTG 0.517000 2 13 0 0 0.000422831 0 0 PROX2 283571 broad.mit.edu 37 14 75329637 75329637 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr14:75329637C>T uc021rwo.1 - 0 901 c.901G>A c.(901-903)Gga>Aga p.G301R PROX2_uc001xqp.2_Missense_Mutation_p.G301R|PROX2_uc001xqq.2_Intron NM_001080408 NP_001229936 Q3B8N5 PROX2_HUMAN Homo sapiens prospero homeobox 2 (PROX2), transcript variant 2, mRNA. 301 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding kidney(1)|large_intestine(2)|lung(3) 6 KIRC - Kidney renal clear cell carcinoma(43;0.238) BRCA - Breast invasive adenocarcinoma(234;0.00652) GATAAATTTCCTACTGGGACC 0.552000 37 59 0 0 0.00361006 0 0 SIN3A 25942 broad.mit.edu 37 15 75692436 75692436 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr15:75692436G>A uc002bai.3 - 11 2058 c.1799C>T c.(1798-1800)tCc>tTc p.S600F SIN3A_uc002baj.3_Missense_Mutation_p.S600F|SIN3A_uc010uml.2_Missense_Mutation_p.S600F NM_015477 NP_056292 Q96ST3 SIN3A_HUMAN Homo sapiens SIN3 transcription regulator homolog A (yeast) (SIN3A), transcript variant 2, mRNA. 600 Interaction with NCOR1 (By similarity).|Interactions with SUDS3 and SAP130. blood coagulation|cellular lipid metabolic process|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent Sin3 complex|nucleolus protein binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2) 63 AGTCTTCTTGGAACTCACAAA 0.413000 31 48 0 0 0.00321405 0 0 EGFR 1956 broad.mit.edu 37 7 55266528 55266528 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr7:55266528C>T uc003tqk.3 + 22 3066 c.2820C>T c.(2818-2820)acC>acT p.T940T EGFR_uc022adm.1_Silent_p.T940T|EGFR_uc010kzg.2_Silent_p.T895T|EGFR_uc022adn.1_Silent_p.T895T|EGFR_uc011kco.2_Silent_p.T887T NM_005228 NP_005219 P00533 EGFR_HUMAN Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA. 940 Protein kinase. activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of MAP kinase activity|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to UV-A|response to stress Golgi membrane|Shc-EGFR complex|basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|integral to membrane|nuclear membrane ATP binding|MAP/ERK kinase kinase activity|actin filament binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6) 14110 all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318) GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607) Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072) CCATATGTACCATCGATGTCT 0.537000 8 """A, O, Mis""" """glioma, NSCLC""" NSCLC Lung Cancer, Familial Clustering of TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08) 31 31 0 0 0.00209593 0 0 CPA5 93979 broad.mit.edu 37 7 129987662 129987662 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr7:129987662G>A uc010lmd.1 + 4 792 c.172G>A c.(172-174)Gat>Aat p.D58N CPA5_uc003vps.2_Missense_Mutation_p.D58N|CPA5_uc003vpt.2_Missense_Mutation_p.D58N|CPA5_uc010lme.1_Missense_Mutation_p.D58N|CPA5_uc003vpu.1_Missense_Mutation_p.D58N NM_001127441 NP_525124 Q8WXQ8 CBPA5_HUMAN Homo sapiens carboxypeptidase A5 (CPA5), transcript variant 2, mRNA. 58 proteolysis extracellular region metallocarboxypeptidase activity|zinc ion binding NS(2)|breast(2)|endometrium(2)|large_intestine(7)|lung(4)|ovary(3)|pancreas(1)|skin(2) 23 Melanoma(18;0.0435) ACTTCTCGGGGATCTGGAGGG 0.577000 38 9 0 0 0.00136819 0 0 COX6B1 1340 broad.mit.edu 37 19 36142191 36142191 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:36142191C>T uc002oav.3 + 1 238 c.46C>T c.(46-48)Cct>Tct p.P16S NM_001863 NP_001854 P14854 CX6B1_HUMAN Homo sapiens cytochrome c oxidase subunit VIb polypeptide 1 (ubiquitous) (COX6B1), nuclear gene encoding mitochondrial protein, mRNA. 16 respiratory electron transport chain mitochondrial inner membrane|mitochondrial intermembrane space cytochrome-c oxidase activity lung(6)|prostate(1)|stomach(1) 8 all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) CAAGACCGCCCCTTTTGACAG 0.572000 26 12 0 0 0.00316338 0 0 SNCAIP 9627 broad.mit.edu 37 5 121787254 121787254 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr5:121787254G>A uc003ksw.1 + 9 2918 c.2712G>A c.(2710-2712)aaG>aaA p.K904K SNCAIP_uc011cwl.1_Silent_p.K462K|SNCAIP_uc003ksy.1_Silent_p.K538K|SNCAIP_uc003ksx.1_Silent_p.K951K|SNCAIP_uc003ksz.1_Silent_p.K538K|SNCAIP_uc010jcu.2_Silent_p.K500K|SNCAIP_uc011cwm.1_Silent_p.K538K|SNCAIP_uc003kta.1_Silent_p.K536K|SNCAIP_uc010jcv.1_Non-coding_Transcript|SNCAIP_uc010jcw.1_Silent_p.K598K|SNCAIP_uc010jcx.1_Silent_p.K844K|BC029465_uc003ktb.1_Intron|SNCAIP_uc003ktc.1_Silent_p.K420K NM_005460 NP_005451 Q9Y6H5 SNCAP_HUMAN Homo sapiens synuclein, alpha interacting protein (SNCAIP), transcript variant 1, mRNA. 904 cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion cytoplasm|neuronal cell body|nucleolus|presynaptic membrane ubiquitin protein ligase binding NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1) 39 all_cancers(142;0.00787)|Prostate(80;0.0327) KIRC - Kidney renal clear cell carcinoma(527;0.206) OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232) CAGATGCCAAGGGAAACCCTG 0.423000 45 44 0 0 0.00361006 0 0 OR4C3 256144 broad.mit.edu 37 11 48346564 48346564 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr11:48346564C>T uc010rhv.2 + 0 72 c.72C>T c.(70-72)acC>acT p.T24T NM_001004702 NP_001004702 Q8NH37 OR4C3_HUMAN Homo sapiens olfactory receptor, family 4, subfamily C, member 3 (OR4C3), mRNA. 178 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1) 32 TCTCAGTGACCTTGGAATCTA 0.393000 76 41 0 0 0.00170553 0 0 WBP11P1 441818 broad.mit.edu 37 18 30093053 30093053 + RNA SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr18:30093053C>T uc010dmc.3 + 0 c.1428C>T Homo sapiens WW domain binding protein 11 pseudogene 1 (WBP11P1), non-coding RNA. TGAACCTTCCCCCTGGACCAC 0.577000 5 8 0 0 0.00307968 0 0 ITGB7 3695 broad.mit.edu 37 12 53594063 53594063 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr12:53594063G>A uc009zmv.3 - 1 236 c.165C>T c.(163-165)atC>atT p.I55I ITGB7_uc001scc.3_Silent_p.I55I|ITGB7_uc010snz.2_Non-coding_Transcript|ITGB7_uc010soa.1_Silent_p.I55I NM_000889 NP_000880 P26010 ITB7_HUMAN Homo sapiens integrin, beta 7 (ITGB7), mRNA. 55 cell-matrix adhesion|integrin-mediated signaling pathway|multicellular organismal development|regulation of immune response integrin complex identical protein binding|metal ion binding|receptor activity NS(2)|breast(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 GGTGTGAGAGGATGCACTTCT 0.542000 57 12 0 0 0.000978159 0 0 DBH 1621 broad.mit.edu 37 9 136505099 136505099 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr9:136505099G>A uc004cel.3 + 1 480 c.471G>A c.(469-471)aaG>aaA p.K157K NM_000787 NP_000778 P09172 DOPO_HUMAN Homo sapiens dopamine beta-hydroxylase (dopamine beta-monooxygenase) (DBH), mRNA. 157 DOMON. hormone biosynthetic process chromaffin granule lumen|chromaffin granule membrane|extracellular region|integral to membrane|membrane fraction|soluble fraction|transport vesicle membrane L-ascorbic acid binding|dopamine beta-monooxygenase activity central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2) 36 OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05) Dopamine(DB00988)|Vitamin C(DB00126) GCGACCCCAAGGATTACCTCA 0.587000 2 17 0 0 0.00152264 0 0 FRG1 2483 broad.mit.edu 37 4 190876192 190876192 + Splice_Site SNP A C C TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr4:190876192A>C uc003izs.3 + 5 509 c.318_splice c.e5-1 p.R106_splice NM_004477 NP_004468 Q14331 FRG1_HUMAN Homo sapiens FSHD region gene 1 (FRG1), mRNA. 106 rRNA processing Cajal body|catalytic step 2 spliceosome|nuclear speck|nucleolus NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1) 32 all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147) all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161) TAATGTACAGAATCGCCCTGA 0.373000 18 3 0 0 0.00136819 0 0 DCP2 167227 broad.mit.edu 37 5 112339742 112339742 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr5:112339742C>T uc003kqh.3 + 7 1134 c.910C>T c.(910-912)Cat>Tat p.H304Y DCP2_uc010jcc.3_Missense_Mutation_p.H304Y|DCP2_uc011cwa.2_Missense_Mutation_p.H93Y NM_152624 NP_689837 Q8IU60 DCP2_HUMAN Homo sapiens DCP2 decapping enzyme homolog (S. cerevisiae) (DCP2), transcript variant 1, mRNA. 304 exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay RNA-induced silencing complex|cytoplasmic mRNA processing body|cytosol|nucleus RNA binding|exoribonuclease activity, producing 5'-phosphomonoesters|manganese ion binding|protein binding endometrium(3)|large_intestine(6)|lung(1) 10 all_cancers(142;4.41e-05)|all_epithelial(76;3.65e-07)|Colorectal(10;0.00115)|Prostate(80;0.00133)|Ovarian(225;0.0443) OV - Ovarian serous cystadenocarcinoma(64;6.98e-08)|Epithelial(69;7.87e-08)|all cancers(49;1.06e-05)|COAD - Colon adenocarcinoma(37;0.0123)|Colorectal(14;0.0171) ATATAATAATCATTCTGAAAT 0.388000 27 12 0 0 0.00185496 0 0 C6orf10 10665 broad.mit.edu 37 6 32261633 32261633 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr6:32261633C>T uc021yvt.1 - 22 990 c.817G>A c.(817-819)Gag>Aag p.E273K C6orf10_uc011dpx.2_Missense_Mutation_p.E264K|C6orf10_uc021yvs.1_Missense_Mutation_p.E190K|C6orf10_uc011dpz.2_Missense_Mutation_p.E271K|C6orf10_uc021yvu.1_Missense_Mutation_p.E271K|C6orf10_uc021yvv.1_Missense_Mutation_p.E257K NM_006781 NP_006772 Q5SRN2 CF010_HUMAN Homo sapiens chromosome 6 open reading frame 10 (C6orf10), mRNA. 273 integral to membrane cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|skin(1) 25 CTTTCTGGCTCCTTTATGTGT 0.398000 102 96 0 0 0.00361006 0 0 PDE2A 5138 broad.mit.edu 37 11 72300278 72300278 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr11:72300278C>T uc010rrc.2 - 11 1126 c.880G>A c.(880-882)Gga>Aga p.G294R PDE2A_uc001oso.3_Missense_Mutation_p.G273R|PDE2A_uc010rra.2_Missense_Mutation_p.G287R|PDE2A_uc001osn.3_Intron|PDE2A_uc010rrb.2_Missense_Mutation_p.G285R|PDE2A_uc010rrd.2_Missense_Mutation_p.G179R NM_002599 NP_002590 O00408 PDE2A_HUMAN Homo sapiens phosphodiesterase 2A, cGMP-stimulated (PDE2A), transcript variant 1, mRNA. 294 GAF 1. platelet activation|signal transduction cytosol 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity|metal ion binding breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 36 BRCA - Breast invasive adenocarcinoma(5;3.55e-05) Sildenafil(DB00203)|Sulindac(DB00605) CCCAGGCATCCTGTCAACTAG 0.572000 131 45 0 0 0.00361006 0 0 C12orf54 121273 broad.mit.edu 37 12 48882737 48882737 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr12:48882737G>A uc001rrr.3 + 4 297 c.166G>A c.(166-168)Gag>Aag p.E56K C12orf54_uc009zky.1_Non-coding_Transcript NM_152319 NP_689532 Q6X4T0 CL054_HUMAN Homo sapiens chromosome 12 open reading frame 54 (C12orf54), mRNA. 56 endometrium(1)|large_intestine(4) 5 TATACAAAAGGAGGTGAGATT 0.368000 177 113 0 0 0.00361006 0 0 GPX6 257202 broad.mit.edu 37 6 28474150 28474150 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr6:28474150G>A uc021yrx.1 - 2 348 c.298C>T c.(298-300)Ccc>Tcc p.P100S GPX6_uc010jrg.1_Non-coding_Transcript NM_182701 NP_874360 P59796 GPX6_HUMAN Homo sapiens glutathione peroxidase 6 (olfactory) (GPX6), mRNA. 100 response to oxidative stress extracellular region glutathione peroxidase activity NS(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 Glutathione(DB00143) TGGTTGCAGGGAAAGGCCAAC 0.498000 50 39 0 0 0.00148497 0 0 CACNA2D4 93589 broad.mit.edu 37 12 2016677 2016677 + Missense_Mutation SNP T C C TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr12:2016677T>C uc021qsx.1 - 5 941 c.710A>G c.(709-711)aAc>aGc p.N237S CACNA2D4_uc009zds.2_Non-coding_Transcript|CACNA2D4_uc009zdt.1_Missense_Mutation_p.N237S NM_172364 NP_758952 Q7Z3S7 CA2D4_HUMAN Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 4 (CACNA2D4), mRNA. 237 integral to membrane calcium channel activity|metal ion binding|voltage-gated ion channel activity endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 39 Ovarian(42;0.107) Myeloproliferative disorder(1001;0.206) OV - Ovarian serous cystadenocarcinoma(31;0.00113) Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451) TCTCTGGAAGTTCTCCACGAA 0.453000 24 5 0 0 0.00198382 0 0 DPPA3 359787 broad.mit.edu 37 12 7867807 7867807 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr12:7867807G>A uc001qtf.3 + 1 189 c.111G>A c.(109-111)ttG>ttA p.L37L NM_199286 NP_954980 Q6W0C5 DPPA3_HUMAN Homo sapiens developmental pluripotency associated 3 (DPPA3), mRNA. 37 cytoplasm|nucleus endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(2) 8 Kidney(36;0.0887) CCGAGACGTTGATAAAGAACC 0.458000 46 60 0 0 0.00361006 0 0 PCDHB8 56128 broad.mit.edu 37 5 140558523 140558523 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr5:140558523G>A uc011dai.2 + 0 1153 c.908G>A c.(907-909)cGa>cAa p.R303Q PCDHB16_uc003liv.3_5'Flank NM_019120 NP_061993 Q9UN66 PCDB8_HUMAN Homo sapiens protocadherin beta 8 (PCDHB8), mRNA. 303 Cadherin 3. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 83 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GGAGAAATTCGACTAAAGAAA 0.393000 57 37 0 0 0.000953801 0 0 KCNH7 90134 broad.mit.edu 37 2 163374525 163374525 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:163374525G>A uc002uch.2 - 3 836 c.607C>T c.(607-609)Cct>Tct p.P203S KCNH7_uc002uci.3_Missense_Mutation_p.P203S NM_033272 NP_150375 Q9NS40 KCNH7_HUMAN Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 7 (KCNH7), transcript variant 1, mRNA. 203 regulation of transcription, DNA-dependent integral to membrane protein binding|signal transducer activity NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 108 Ibutilide(DB00308) TCTTTTGTAGGAGACTTAAAA 0.443000 71 43 0 0 0.00321405 0 0 ATP13A5 344905 broad.mit.edu 37 3 193019069 193019069 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr3:193019069G>A uc011bsq.2 - 23 2706 c.2706C>T c.(2704-2706)tcC>tcT p.S902S NM_198505 NP_940907 Q4VNC0 AT135_HUMAN Homo sapiens ATPase type 13A5 (ATP13A5), mRNA. 902 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 76 all_cancers(143;1.08e-08)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06) GBM - Glioblastoma multiforme(46;0.000307) ATACTCCAAAGGATGAAACCA 0.323000 153 94 0 0 0.00361006 0 0 COL22A1 169044 broad.mit.edu 37 8 139603680 139603680 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr8:139603680G>A uc003yvd.3 - 63 5127 c.4680C>T c.(4678-4680)ccC>ccT p.P1560P COL22A1_uc011ljo.2_Silent_p.P840P NM_152888 NP_690848 Q8NFW1 COMA1_HUMAN Homo sapiens collagen, type XXII, alpha 1 (COL22A1), mRNA. 1560 Gly-rich.|Pro-rich. cell adhesion collagen|cytoplasm structural molecule activity breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4) 211 all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0517) GGATTCCAGGGGGTCCCATCT 0.602000 HNSCC(7;0.00092) 20 10 0 0 0.000978159 0 0 PUM1 9698 broad.mit.edu 37 1 31409621 31409621 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:31409621C>T uc001bsi.1 - 20 3411 c.3298G>A c.(3298-3300)Gag>Aag p.E1100K PUM1_uc001bsf.1_Missense_Mutation_p.E768K|PUM1_uc001bsh.1_Missense_Mutation_p.E1102K|PUM1_uc001bsj.1_Missense_Mutation_p.E1076K|PUM1_uc010oga.1_Missense_Mutation_p.E958K|PUM1_uc001bsk.1_Missense_Mutation_p.E1138K|PUM1_uc010ogb.1_Missense_Mutation_p.E1041K|SNORD103A_uc021okk.1_5'Flank NM_014676 NP_055491 Q14671 PUM1_HUMAN Homo sapiens pumilio homolog 1 (Drosophila) (PUM1), transcript variant 2, mRNA. 1100 PUM-HD. cellular membrane organization|post-Golgi vesicle-mediated transport|regulation of translation cytosol RNA binding breast(1)|central_nervous_system(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(17)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123) STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681) GTGCACACCTCATCGATGAGC 0.507000 29 68 0 0 0.00361006 0 0 TATDN2 9797 broad.mit.edu 37 3 10311961 10311961 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr3:10311961C>T uc011atr.2 + 3 1676 c.1095C>T c.(1093-1095)acC>acT p.T365T TATDN2_uc003bvg.2_Silent_p.T365T|TATDN2_uc003bvf.3_Silent_p.T365T|TATDN2_uc011ats.1_Non-coding_Transcript|TATDN2_uc011att.1_Non-coding_Transcript NM_014760 NP_055575 Q93075 TATD2_HUMAN Homo sapiens TatD DNase domain containing 2 (TATDN2), mRNA. 365 nucleus endodeoxyribonuclease activity, producing 5'-phosphomonoesters|metal ion binding autonomic_ganglia(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(9)|pancreas(2)|prostate(1)|stomach(2) 28 CCTTCACCACCGACTATGTCA 0.532000 58 67 0 0 0.00361006 0 0 JAKMIP3 282973 broad.mit.edu 37 10 133948557 133948557 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr10:133948557G>A uc001lkx.4 + 3 862 c.862G>A c.(862-864)Gat>Aat p.D288N NM_001105521 NP_001098991 Homo sapiens Janus kinase and microtubule interacting protein 3 (JAKMIP3), mRNA. breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2) 31 all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175) OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224) ACAGCAGTTGGATGAAAAAGA 0.483000 5 29 0 0 0.00178596 0 0 PROKR2 128674 broad.mit.edu 37 20 5282938 5282938 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr20:5282938G>A uc010zqw.2 - 1 911 c.903C>T c.(901-903)ttC>ttT p.F301F PROKR2_uc010zqx.2_Silent_p.F301F|PROKR2_uc010zqy.2_Silent_p.F301F NM_144773 NP_658986 Q8NFJ6 PKR2_HUMAN Homo sapiens prokineticin receptor 2 (PROKR2), mRNA. 301 integral to membrane|plasma membrane neuropeptide Y receptor activity autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4) 53 ACACAGTGGGGAAGAAGTCAC 0.552000 HNSCC(71;0.22) 18 44 0 0 0.00170553 0 0 ARAP1 116985 broad.mit.edu 37 11 72410593 72410593 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr11:72410593G>A uc001osu.3 - 16 2496 c.2307C>T c.(2305-2307)ttC>ttT p.F769F ARAP1_uc001osv.3_Silent_p.F769F|ARAP1_uc001osr.3_Silent_p.F529F|ARAP1_uc001oss.3_Silent_p.F524F|ARAP1_uc009yth.3_Silent_p.F463F|ARAP1_uc010rre.2_Silent_p.F524F NM_001040118 NP_056057 Q96P48 ARAP1_HUMAN Homo sapiens ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1 (ARAP1), transcript variant 3, mRNA. 769 PH 3. actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction Golgi cisterna membrane|cytosol|plasma membrane ARF GTPase activator activity|Rho GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|zinc ion binding cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1) 27 AGCGCCGGCTGAACTCTGGGG 0.617000 111 51 0 0 0.00361006 0 0 ABCB5 340273 broad.mit.edu 37 7 20698167 20698167 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr7:20698167G>A uc010kuh.3 + 13 1812 c.1575G>A c.(1573-1575)atG>atA p.M525I ABCB5_uc003suw.4_Missense_Mutation_p.M80I|ABCB5_uc003suv.4_Missense_Mutation_p.M80I|ABCB5_uc011jyi.1_Missense_Mutation_p.M80I NM_001163941 NP_848654 Q2M3G0 ABCB5_HUMAN Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 5 (ABCB5), transcript variant 1, mRNA. 80 ABC transmembrane type-1. E -> K (in dbSNP:rs6461515). regulation of membrane potential Golgi membrane|apical plasma membrane|integral to plasma membrane|intercellular canaliculus ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1) 77 GAGCTCAAATGAGTGGAGGGC 0.423000 36 32 0 0 0.00375469 0 0 C20orf112 140688 broad.mit.edu 37 20 31044121 31044121 + Missense_Mutation SNP C A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr20:31044121C>A uc002wxu.4 - 2 344 c.187G>T c.(187-189)Gac>Tac p.D63Y NM_080616 NP_542183 Q96MY1 CT112_HUMAN Homo sapiens chromosome 20 open reading frame 112 (C20orf112), mRNA. 63 endometrium(3)|kidney(2)|large_intestine(5)|lung(5) 15 AAGGCAGGGTCGCCCTGCGTG 0.642000 50 20 9.7654e-05 0.000282167 0.000958276 1 0 ZNF812 729648 broad.mit.edu 37 19 9801900 9801900 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:9801900C>T uc021uop.1 - 5 925 c.279G>A c.(277-279)gaG>gaA p.E93E ZNF812_uc010xkx.2_5'UTR NM_001199814 NP_001186743 P0C7V5 ZN812_HUMAN Homo sapiens zinc finger protein 812 (ZNF812), mRNA. 93 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 CACTGAAGACCTCTCCACAAT 0.398000 16 15 0 0 0.000958276 0 0 ZDHHC2 51201 broad.mit.edu 37 8 17053131 17053131 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr8:17053131G>A uc003wxe.3 + 3 768 c.371G>A c.(370-372)gGa>gAa p.G124E NM_016353 NP_057437 Q9UIJ5 ZDHC2_HUMAN Homo sapiens zinc finger, DHHC-type containing 2 (ZDHHC2), mRNA. 124 integral to membrane acyltransferase activity|zinc ion binding endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|pancreas(1)|stomach(1) 8 Colorectal(111;0.0697)|COAD - Colon adenocarcinoma(73;0.244) ACCATGTCTGGAGGTAAATGT 0.413000 28 43 0 0 0.00361006 0 0 KIAA1549 57670 broad.mit.edu 37 7 138591708 138591708 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr7:138591708C>T uc011kql.2 - 5 3466 c.3417G>A c.(3415-3417)gaG>gaA p.E1139E KIAA1549_uc011kqj.2_Silent_p.E1139E NM_001164665 NP_001158137 Q9HCM3 K1549_HUMAN Homo sapiens KIAA1549 (KIAA1549), transcript variant 2, mRNA. 1139 integral to membrane KIAA1549/BRAF(703) large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2) 7 AGAAACTGAACTCCACCACAC 0.532000 O BRAF pilocytic astrocytoma 68 30 0 0 0.00375469 0 0 ATP8B1 5205 broad.mit.edu 37 18 55368546 55368546 + Splice_Site SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr18:55368546C>T uc002lgw.3 - 5 514 c.394_splice c.e5-1 p.A132_splice LOC100505549_uc002lgv.1_Intron NM_005603 NP_005594 O43520 AT8B1_HUMAN Homo sapiens ATPase, aminophospholipid transporter, class I, type 8B, member 1 (ATP8B1), mRNA. 132 ATP biosynthetic process|bile acid and bile salt transport|negative regulation of transcription, DNA-dependent apical plasma membrane|integral to plasma membrane|membrane fraction ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity breast(6)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(19)|ovary(3)|prostate(1) 53 Colorectal(73;0.229) GAGGAACTGCCTAAAAGAATA 0.463000 31 32 0 0 0.00327116 0 0 LRP1 4035 broad.mit.edu 37 12 57598914 57598914 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr12:57598914C>T uc001snd.3 + 72 11683 c.11217C>T c.(11215-11217)acC>acT p.T3739T NM_002332 NP_002323 Q07954 LRP1_HUMAN Homo sapiens low density lipoprotein receptor-related protein 1 (LRP1), mRNA. 3739 LDL-receptor class A 31. aorta morphogenesis|apoptotic cell clearance|negative regulation of Wnt receptor signaling pathway|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity coated pit|integral to plasma membrane|nucleus apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity p.T3738S(1) NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 184 BRCA - Breast invasive adenocarcinoma(357;0.0103) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031) CCCACACCACCCACTGCAAAG 0.617000 10 33 0 0 0.00375469 0 0 LRRC3B 116135 broad.mit.edu 37 3 26751886 26751886 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr3:26751886C>T uc003cdp.3 + 1 1312 c.723C>T c.(721-723)tcC>tcT p.S241S LRRC3B_uc003cdq.3_Silent_p.S241S|LRRC3B_uc021wuj.1_Silent_p.S241S NM_052953 NP_443185 Q96PB8 LRC3B_HUMAN Homo sapiens leucine rich repeat containing 3B (LRRC3B), mRNA. 241 integral to membrane breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|skin(4) 21 ACTTGAAATCCCTGCCAAGCA 0.433000 9 21 0 0 0.00229938 0 0 RIMS2 9699 broad.mit.edu 37 8 104897612 104897612 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr8:104897612C>T uc003yls.3 + 1 360 c.119C>T c.(118-120)tCg>tTg p.S40L RIMS2_uc003ylp.3_Missense_Mutation_p.S262L|RIMS2_uc003ylw.2_Missense_Mutation_p.S70L|RIMS2_uc003ylq.3_Missense_Mutation_p.S70L|RIMS2_uc003ylr.3_Missense_Mutation_p.S70L NM_014677 NP_055492 Q9UQ26 RIMS2_HUMAN Homo sapiens regulating synaptic membrane exocytosis 2 (RIMS2), transcript variant 2, mRNA. 293 RabBD. intracellular protein transport cell junction|presynaptic membrane Rab GTPase binding|metal ion binding p.A40T(1) NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1) 144 OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229) TATGCTACTTCGGATACCGCA 0.408000 HNSCC(12;0.0054) 32 21 0 0 0.00152264 0 0 ANK2 287 broad.mit.edu 37 4 114275446 114275446 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr4:114275446C>T uc003ibe.4 + 37 5772 c.5672C>T c.(5671-5673)tCt>tTt p.S1891F ANK2_uc003ibd.4_Intron|ANK2_uc003ibf.4_Intron|ANK2_uc011cgc.2_Intron|ANK2_uc003ibg.4_Intron|ANK2_uc003ibh.4_Intron|ANK2_uc011cgb.1_Missense_Mutation_p.S1906F NM_001148 NP_001139 Q01484 ANK2_HUMAN Homo sapiens ankyrin 2, neuronal (ANK2), transcript variant 1, mRNA. 1858 Repeat-rich region. axon guidance|signal transduction apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere protein binding NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10) 248 Ovarian(17;0.0448)|Hepatocellular(203;0.218) OV - Ovarian serous cystadenocarcinoma(123;4.92e-05) GAAAGGCACTCTCCTGTGTCA 0.473000 48 45 0 0 0.00321405 0 0 SUDS3 64426 broad.mit.edu 37 12 118827739 118827739 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr12:118827739C>T uc001twz.3 + 4 487 c.348C>T c.(346-348)ttC>ttT p.F116F NM_022491 NP_071936 Q9H7L9 SDS3_HUMAN Homo sapiens suppressor of defective silencing 3 homolog (S. cerevisiae) (SUDS3), mRNA. 116 chromatin modification|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent Sin3 complex histone deacetylase binding breast(1)|lung(1) 2 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) CAGAACTCTTCCTCCAGCTGG 0.448000 24 18 0 0 0.000566183 0 0 PIP5K1B 8395 broad.mit.edu 37 9 71555568 71555568 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr9:71555568G>A uc004agu.3 + 13 1669 c.1364G>A c.(1363-1365)gGa>gAa p.G455E PIP5K1B_uc011lrq.2_Missense_Mutation_p.G455E|PIP5K1B_uc004agv.3_Non-coding_Transcript NM_003558 NP_003549 O14986 PI51B_HUMAN Homo sapiens phosphatidylinositol-4-phosphate 5-kinase, type I, beta (PIP5K1B), transcript variant 2, mRNA. 455 endomembrane system|membrane|uropod 1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|protein binding breast(1)|large_intestine(2)|stomach(1) 4 Lung(182;0.133) CTAGCCCTGGGATCCCGACAC 0.423000 12 83 0 0 0.00361006 0 0 CAMK2B 816 broad.mit.edu 37 7 44283092 44283092 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr7:44283092C>T uc003tkq.2 - 6 659 c.449G>A c.(448-450)gGg>gAg p.G150E CAMK2B_uc003tkp.2_Missense_Mutation_p.G150E|CAMK2B_uc003tkr.2_Missense_Mutation_p.G150E|CAMK2B_uc003tks.2_Missense_Mutation_p.G150E|CAMK2B_uc003tku.2_Missense_Mutation_p.G150E|CAMK2B_uc003tkv.2_Missense_Mutation_p.G150E|CAMK2B_uc003tkt.2_Missense_Mutation_p.G150E|CAMK2B_uc003tkw.2_Missense_Mutation_p.G150E|CAMK2B_uc010kyc.2_Missense_Mutation_p.G150E NM_001220 NP_001211 Q13554 KCC2B_HUMAN Homo sapiens calcium/calmodulin-dependent protein kinase II beta (CAMK2B), transcript variant 1, mRNA. 150 Protein kinase. interferon-gamma-mediated signaling pathway|synaptic transmission cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1) 18 CACTGCAGCCCCTTTGCACTT 0.607000 56 25 0 0 0.000720815 0 0 CNTN4 152330 broad.mit.edu 37 3 2908625 2908625 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr3:2908625G>A uc003bpc.3 + 7 983 c.644G>A c.(643-645)aGa>aAa p.R215K CNTN4_uc003bpb.1_5'UTR|CNTN4_uc021wsg.1_Missense_Mutation_p.R215K|CNTN4_uc003bpd.1_Missense_Mutation_p.R215K NM_175607 NP_783302 Q8IWV2 CNTN4_HUMAN Homo sapiens contactin 4 (CNTN4), transcript variant 1, mRNA. 215 axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity anchored to membrane|axon|extracellular region|plasma membrane protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 61 Ovarian(110;0.156) Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01) CTAATATTGAGAAATGATGGT 0.393000 31 13 0 0 0.00185496 0 0 GTPBP4 23560 broad.mit.edu 37 10 1054962 1054962 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr10:1054962C>T uc001ift.3 + 10 1249 c.1178C>T c.(1177-1179)tCc>tTc p.S393F GTPBP4_uc010qac.1_Missense_Mutation_p.S184F|GTPBP4_uc010qad.2_Missense_Mutation_p.S277F|GTPBP4_uc010qae.2_Missense_Mutation_p.S346F NM_012341 NP_036473 Q9BZE4 NOG1_HUMAN Homo sapiens GTP binding protein 4 (GTPBP4), mRNA. 393 negative regulation of DNA replication|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of collagen binding|negative regulation of protein ubiquitination|protein stabilization|regulation of cyclin-dependent protein kinase activity|ribosome biogenesis nucleolus|perinuclear region of cytoplasm GTP binding|GTPase activity|protein binding endometrium(2)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(1) 21 all_epithelial(10;0.107)|Colorectal(49;0.14) OV - Ovarian serous cystadenocarcinoma(33;0.0814) Epithelial(11;0.0513)|all cancers(11;0.135)|OV - Ovarian serous cystadenocarcinoma(14;0.173) ACTGAGGAGTCCAGGAAGAAG 0.557000 15 34 0 0 0.000814825 0 0 OR5T2 219464 broad.mit.edu 37 11 56000154 56000154 + Silent SNP G A A rs142863951 byFrequency TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr11:56000154G>A uc010rjc.2 - 0 508 c.508C>T c.(508-510)Ctg>Ttg p.L170L NM_001004746 NP_001004746 Q8NGG2 OR5T2_HUMAN Homo sapiens olfactory receptor, family 5, subfamily T, member 2 (OR5T2), mRNA. 170 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(6)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(3) 41 Esophageal squamous(21;0.00448) ACTGAATACAGGAGAGGGTTG 0.438000 74 59 0 0 0.00361006 0 0 MUC16 94025 broad.mit.edu 37 19 9075413 9075414 + Missense_Mutation DNP GG AA AA TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:9075413_9075414GG>AA uc002mkp.3 - 2 12236_12237 c.12032_12033CC>TT c.(12031-12033)tcc>tTT p.S4011F NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 4013 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 TAGTCAAGAAGGAATTAGGCTC 0.475000 53 15 0 0 6.4e-05 0 0 PLEKHA7 144100 broad.mit.edu 37 11 16838358 16838358 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr11:16838358G>A uc010rcu.1 - 10 1870 c.1855C>T c.(1855-1857)Cac>Tac p.H619Y PLEKHA7_uc001mmo.3_Missense_Mutation_p.H619Y|PLEKHA7_uc010rcv.2_Missense_Mutation_p.H193Y|PLEKHA7_uc001mmn.3_Missense_Mutation_p.H327Y NM_175058 NP_778228 Q6IQ23 PKHA7_HUMAN Homo sapiens pleckstrin homology domain containing, family A member 7 (PLEKHA7), mRNA. 619 Interaction with CTNND1. 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 TTGACAGCGTGGCCCCGTGCC 0.597000 43 19 0 0 0.00121646 0 0 ARHGAP5 394 broad.mit.edu 37 14 32562319 32562319 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr14:32562319C>T uc001wrl.3 + 1 2683 c.2444C>T c.(2443-2445)tCc>tTc p.S815F ARHGAP5_uc001wrm.3_Missense_Mutation_p.S815F|ARHGAP5_uc001wrn.3_Missense_Mutation_p.S815F|ARHGAP5_uc001wro.3_Intron|ARHGAP5_uc001wrp.3_Intron NM_001173 NP_001025226 Q13017 RHG05_HUMAN Homo sapiens Rho GTPase activating protein 5 (ARHGAP5), transcript variant 2, mRNA. 815 Rho protein signal transduction|cell adhesion cytosol|membrane GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4) 55 Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186) LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173) GBM - Glioblastoma multiforme(265;0.00566) CAGAATAATTCCCTAATGCTT 0.383000 35 46 0 0 0.00361006 0 0 CACNA1C 775 broad.mit.edu 37 12 2162765 2162765 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr12:2162765G>A uc009zdu.1 + 0 350 c.37G>A c.(37-39)Gaa>Aaa p.E13K CACNA1C_uc001qkc.2_Missense_Mutation_p.E13K|CACNA1C_uc001qjz.2_Missense_Mutation_p.E13K|CACNA1C_uc001qkd.2_Missense_Mutation_p.E13K|CACNA1C_uc001qke.2_Missense_Mutation_p.E13K|CACNA1C_uc001qkf.2_Missense_Mutation_p.E13K|CACNA1C_uc009zdw.1_Missense_Mutation_p.E13K|CACNA1C_uc001qkg.2_Missense_Mutation_p.E13K|CACNA1C_uc001qkh.2_Missense_Mutation_p.E13K|CACNA1C_uc001qkl.2_Missense_Mutation_p.E13K|CACNA1C_uc001qkj.2_Missense_Mutation_p.E13K|CACNA1C_uc001qkk.2_Missense_Mutation_p.E13K|CACNA1C_uc001qkn.2_Missense_Mutation_p.E13K|CACNA1C_uc001qkm.2_Missense_Mutation_p.E13K|CACNA1C_uc001qko.2_Missense_Mutation_p.E13K|CACNA1C_uc001qkp.2_Missense_Mutation_p.E13K|CACNA1C_uc001qkq.2_Missense_Mutation_p.E13K|CACNA1C_uc001qku.2_Missense_Mutation_p.E13K|CACNA1C_uc001qkr.2_Missense_Mutation_p.E13K|CACNA1C_uc001qks.2_Missense_Mutation_p.E13K|CACNA1C_uc001qkt.2_Missense_Mutation_p.E13K|CACNA1C_uc009zdv.1_Missense_Mutation_p.E13K|CACNA1C_uc001qkb.2_Missense_Mutation_p.E13K NM_199460 NP_955630 Q13936 CAC1C_HUMAN Homo sapiens calcium channel, voltage-dependent, L type, alpha 1C subunit (CACNA1C), transcript variant 1, mRNA. 13 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) CATTCCAGAGGAAAACCACCA 0.597000 7 4 0 0 0.00116845 0 0 PTCHD3 374308 broad.mit.edu 37 10 27702640 27702640 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr10:27702640C>T uc001itu.2 - 0 658 c.540G>A c.(538-540)gcG>gcA p.A180A NM_001034842 NP_001030014 Q3KNS1 PTHD3_HUMAN Homo sapiens patched domain containing 3 (PTCHD3), mRNA. 180 spermatid development integral to membrane hedgehog receptor activity NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3) 55 AGCGCCGCTCCGCCTTGGCCG 0.632000 57 111 0 0 0.00361006 0 0 BTN2A1 11120 broad.mit.edu 37 6 26465416 26465416 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr6:26465416C>T uc003nib.2 + 4 964 c.716C>T c.(715-717)tCc>tTc p.S239F BTN2A1_uc021yni.1_Missense_Mutation_p.S239F|BTN2A1_uc003nic.2_Missense_Mutation_p.S239F|BTN2A1_uc011dko.2_Missense_Mutation_p.S178F NM_007049 NP_001184162 Q7KYR7 BT2A1_HUMAN Homo sapiens butyrophilin, subfamily 2, member A1 (BTN2A1), transcript variant 1, mRNA. 239 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 TTTTCAGAATCCTTTATGCCC 0.478000 68 49 0 0 0.00361006 0 0 OBSCN 84033 broad.mit.edu 37 1 228560448 228560448 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:228560448G>A uc009xez.1 + 93 22013 c.21969G>A c.(21967-21969)atG>atA p.M7323I OBSCN_uc001hsr.1_Missense_Mutation_p.M1952I NM_001098623 NP_001092093 Q5VST9 OBSCN_HUMAN Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA. 7323 apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction M band|Z disc|cytosol ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|structural constituent of muscle|titin binding NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) TCGAGTTTATGATCTTCAGGA 0.607000 8 13 0 0 0.00185496 0 0 KRT27 342574 broad.mit.edu 37 17 38936698 38936698 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr17:38936698C>T uc002hvg.3 - 2 579 c.538G>A c.(538-540)Gag>Aag p.E180K NM_181537 NP_853515 Q7Z3Y8 K1C27_HUMAN Homo sapiens keratin 27 (KRT27), mRNA. 180 Coil 1B.|Rod. cytoplasm|intermediate filament structural molecule activity NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(3)|skin(1)|stomach(1) 21 Breast(137;0.000812) AGCGCTAGCTCGTTTTCAAAC 0.453000 24 7 0 0 0.00198382 0 0 RANBP17 64901 broad.mit.edu 37 5 170668034 170668034 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr5:170668034G>A uc003mba.3 + 22 2667 c.2525G>A c.(2524-2526)tGt>tAt p.C842Y RANBP17_uc003mbb.3_Missense_Mutation_p.C167Y|RANBP17_uc003mbd.3_Missense_Mutation_p.C205Y|RANBP17_uc010jjs.3_Non-coding_Transcript NM_022897 NP_075048 Q9H2T7 RBP17_HUMAN Homo sapiens RAN binding protein 17 (RANBP17), mRNA. 842 mRNA transport|protein import into nucleus|transmembrane transport cytoplasm|nuclear pore GTP binding|protein transporter activity breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 50 Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) TCTGCCTTGTGTGGAAATTAT 0.448000 T TRD@ ALL 149 69 0 0 0.00361006 0 0 PAPPA2 60676 broad.mit.edu 37 1 176740314 176740314 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:176740314G>A uc001gkz.3 + 16 5877 c.4713G>A c.(4711-4713)agG>agA p.R1571R PAPPA2_uc009www.3_Non-coding_Transcript NM_020318 NP_064714 Q9BXP8 PAPP2_HUMAN Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA. 1571 Sushi 3. cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding 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 GTAAAGTCAGGAAGTAAGTTG 0.458000 17 12 0 0 0.00136819 0 0 MRPS18A 55168 broad.mit.edu 37 6 43639616 43639617 + Missense_Mutation DNP GG AA AA TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr6:43639616_43639617GG>AA uc003owa.2 - 4 728_729 c.695_696CC>TT c.(694-696)tcc>tTT p.S232F MRPS18A_uc003ovy.2_Missense_Mutation_p.S158F|MRPS18A_uc003ovz.2_3'UTR NM_018135 NP_060605 Q9NVS2 RT18A_HUMAN Homo sapiens mitochondrial ribosomal protein S18A (MRPS18A), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 158 translation mitochondrial small ribosomal subunit structural constituent of ribosome kidney(3)|large_intestine(1) 4 all_cancers(18;6.56e-06)|Lung NSC(15;0.00161)|all_lung(25;0.004) all cancers(41;0.000479)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0102)|OV - Ovarian serous cystadenocarcinoma(102;0.137) TGGGCTTGACGGAGCCAGGAGC 0.614000 15 12 0 0 6.4e-05 0 0 PSG3 5671 broad.mit.edu 37 19 43382351 43382351 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:43382351C>T uc002ovd.1 - 1 282 c.144G>A c.(142-144)ggG>ggA p.G48G PSG3_uc002ouf.3_Intron|PSG3_uc002oug.1_Silent_p.G48G|PSG3_uc002oun.3_Non-coding_Transcript|PSG3_uc002ovc.3_Silent_p.G48G|PSG3_uc002ova.2_Silent_p.G48G|PSG3_uc002ouz.2_Silent_p.G48G|PSG3_uc002ovb.3_Silent_p.G48G NM_006905 NP_008836 Q16557 PSG3_HUMAN Homo sapiens pregnancy specific beta-1-glycoprotein 1 (PSG1), transcript variant 1, mRNA. 48 Ig-like V-type. defense response|female pregnancy extracellular region p.G48W(1) central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 36 Prostate(69;0.00682) GAACATCCTTCCCCTCGGAAA 0.478000 63 22 0 0 0.0024448 0 0 NXF5 55998 broad.mit.edu 37 X 101096486 101096486 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chrX:101096486C>T uc011mrk.1 - 5 645 c.285G>A c.(283-285)aaG>aaA p.K95K NXF5_uc004eih.1_Non-coding_Transcript|NXF5_uc004eii.1_Non-coding_Transcript|NXF5_uc004eij.1_Non-coding_Transcript|NXF5_uc004eik.1_Non-coding_Transcript|NXF5_uc004eil.1_Non-coding_Transcript NM_032946 NP_116564 Q9H1B4 NXF5_HUMAN Homo sapiens nuclear RNA export factor 5 (NXF5), transcript variant 1, mRNA. 95 mRNA export from nucleus|multicellular organismal development actin cytoskeleton|cytoplasm|nucleus RNA binding|nucleocytoplasmic transporter activity|nucleotide binding|protein binding breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|skin(1) 30 TCAACTTATTCTTCACAGAGT 0.473000 4 29 0 0 0.000814825 0 0 CCDC19 25790 broad.mit.edu 37 1 159860385 159860385 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:159860385G>A uc001fui.3 - 2 175 c.157C>T c.(157-159)Ccc>Tcc p.P53S CCDC19_uc009wtb.3_Non-coding_Transcript|CCDC19_uc001fuk.3_5'UTR|CCDC19_uc001fuj.3_Non-coding_Transcript|CCDC19_uc009wtc.1_Missense_Mutation_p.P53S NM_012337 NP_036469 Q9UL16 CCD19_HUMAN Homo sapiens coiled-coil domain containing 19 (CCDC19), mRNA. 53 mitochondrion|soluble fraction endometrium(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2) 26 all_hematologic(112;0.0597) BRCA - Breast invasive adenocarcinoma(70;0.151) AGCACAATGGGGCTGTCGCTC 0.527000 42 62 0 0 0.00361006 0 0 DMD 1756 broad.mit.edu 37 X 31222096 31222096 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chrX:31222096G>A uc004dda.1 - 66 10033 c.9789C>T c.(9787-9789)gtC>gtT p.V3263V DMD_uc004dcq.1_Silent_p.V534V|DMD_uc004dcr.1_Silent_p.V803V|DMD_uc004dcs.1_Silent_p.V803V|DMD_uc004dct.1_Silent_p.V803V|DMD_uc004dcu.1_Silent_p.V803V|DMD_uc004dcv.1_Silent_p.V803V|DMD_uc004dcw.2_Silent_p.V1919V|DMD_uc004dcx.2_Silent_p.V1922V|DMD_uc004dcz.2_Silent_p.V3140V|DMD_uc004dcy.1_Silent_p.V3259V|DMD_uc004ddb.1_Silent_p.V3255V|DMD_uc004dcp.1_Silent_p.V195V|DMD_uc011mkb.1_Silent_p.V195V|DMD_uc004dcm.1_Silent_p.V195V|DMD_uc004dcn.1_Silent_p.V195V|DMD_uc004dco.1_Silent_p.V195V|DMD_uc010ngm.3_Silent_p.V195V NM_004006 NP_004001 P11532 DMD_HUMAN Homo sapiens dystrophin (DMD), transcript variant Dp427m, mRNA. 3263 Interaction with SYNM (By similarity). muscle filament sliding|peptide biosynthetic process cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2) 77 all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203) AGCAGCTCCGGACACTTGGCT 0.413000 1 30 0 0 0.00375469 0 0 BZRAP1 9256 broad.mit.edu 37 17 56405038 56405038 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr17:56405038C>T uc002ivx.4 - 0 1115 c.244G>A c.(244-246)Gct>Act p.A82T BZRAP1_uc010dcs.3_Missense_Mutation_p.A82T|BZRAP1_uc010wnt.2_Missense_Mutation_p.A82T|LOC100506779_uc021uan.1_Intron|LOC100506779_uc010dct.2_5'Flank|LOC100506779_uc010dcu.2_5'Flank|LOC100506779_uc021uao.1_5'Flank NM_004758 NP_004749 O95153 RIMB1_HUMAN Homo sapiens benzodiazapine receptor (peripheral) associated protein 1 (BZRAP1), transcript variant 1, mRNA. 82 mitochondrion benzodiazepine receptor binding cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 54 Medulloblastoma(34;0.127)|all_neural(34;0.237) GGCAGACAAGCCTCTGCTCCT 0.607000 24 32 0 0 0.001512 0 0 PDE9A 5152 broad.mit.edu 37 21 44188352 44188352 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr21:44188352G>A uc002zbm.3 + 15 1474 c.1411G>A c.(1411-1413)Gaa>Aaa p.E471K PDE9A_uc002zbn.3_Missense_Mutation_p.E344K|PDE9A_uc002zbo.3_Missense_Mutation_p.E418K|PDE9A_uc002zbp.3_Missense_Mutation_p.E264K|PDE9A_uc002zbq.3_Missense_Mutation_p.E369K|PDE9A_uc002zbs.3_Missense_Mutation_p.E264K|PDE9A_uc002zbr.3_Missense_Mutation_p.E264K|PDE9A_uc002zbt.3_Missense_Mutation_p.E343K|PDE9A_uc002zbu.3_Missense_Mutation_p.E337K|PDE9A_uc002zbv.3_Missense_Mutation_p.E311K|PDE9A_uc002zbw.3_Missense_Mutation_p.E254K|PDE9A_uc002zbx.3_Missense_Mutation_p.E411K|PDE9A_uc002zby.3_Missense_Mutation_p.E254K|PDE9A_uc002zbz.3_Missense_Mutation_p.E363K|PDE9A_uc002zca.3_Missense_Mutation_p.E430K|PDE9A_uc002zcb.3_Missense_Mutation_p.E445K|PDE9A_uc002zcc.3_Missense_Mutation_p.E370K|PDE9A_uc002zcd.3_Missense_Mutation_p.E385K|PDE9A_uc002zce.3_Missense_Mutation_p.E404K|PDE9A_uc002zcf.3_Missense_Mutation_p.E264K|PDE9A_uc002zcg.3_Missense_Mutation_p.E264K NM_002606 NP_001001585 O76083 PDE9A_HUMAN Homo sapiens phosphodiesterase 9A (PDE9A), transcript variant 1, mRNA. 471 Catalytic (By similarity). platelet activation|signal transduction Golgi apparatus|cytosol|endoplasmic reticulum|perinuclear region of cytoplasm|ruffle membrane 3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding|protein binding breast(1)|endometrium(4)|large_intestine(6)|lung(8)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 27 CCGTCCAATGGAAGTCGCAGA 0.433000 33 44 0 0 0.00361006 0 0 PSMB10 5699 broad.mit.edu 37 16 67968801 67968801 + Missense_Mutation SNP C A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr16:67968801C>A uc002eux.2 - 6 737 c.609G>T c.(607-609)ttG>ttT p.L203F NM_002801 NP_002792 P40306 PSB10_HUMAN Homo sapiens proteasome (prosome, macropain) subunit, beta type, 10 (PSMB10), mRNA. 203 DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|humoral immune response|interspecies interaction between organisms|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|viral reproduction cytoplasm|nucleus|proteasome core complex threonine-type endopeptidase activity NS(2)|endometrium(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1) 6 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.00415)|Epithelial(162;0.0182)|all cancers(182;0.119) CCAGGTCACCCAAGATCCCGG 0.617000 171 7 0.000673444 0.00194257 0.000673444 1 0 TBC1D17 79735 broad.mit.edu 37 19 50385371 50385371 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:50385371C>T uc002pqo.3 + 5 900 c.601C>T c.(601-603)Ctg>Ttg p.L201L TBC1D17_uc010enn.2_Non-coding_Transcript|TBC1D17_uc010ybg.2_Silent_p.L168L|TBC1D17_uc002pqp.3_5'UTR|TBC1D17_uc002pqr.3_5'UTR NM_024682 NP_078958 Q9HA65 TBC17_HUMAN Homo sapiens TBC1 domain family, member 17 (TBC1D17), transcript variant 1, mRNA. 201 intracellular Rab GTPase activator activity NS(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 15 all_lung(116;0.000338)|Lung NSC(112;0.000446)|all_neural(266;0.107)|Ovarian(192;0.231) GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.017) CTTCCACCACCTGCAGCTCTT 0.657000 276 48 0 0 0.00361006 0 0 NPTX2 4885 broad.mit.edu 37 7 98249027 98249027 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr7:98249027G>A uc003upl.2 + 1 676 c.499G>A c.(499-501)Ggg>Agg p.G167R NM_002523 NP_002514 P47972 NPTX2_HUMAN Homo sapiens neuronal pentraxin II (NPTX2), mRNA. 167 synaptic transmission extracellular region metal ion binding|sugar binding breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 18 all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142) STAD - Stomach adenocarcinoma(171;0.215) GCAGCGGCTGGGGGAGCTGGA 0.657000 74 40 0 0 0.00170553 0 0 DCST2 127579 broad.mit.edu 37 1 155002639 155002639 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:155002639C>T uc001fgm.3 - 6 1178 c.1098G>A c.(1096-1098)atG>atA p.M366I DCST2_uc009wpb.3_Non-coding_Transcript NM_144622 NP_653223 Q5T1A1 DCST2_HUMAN Homo sapiens DC-STAMP domain containing 2 (DCST2), mRNA. 366 integral to membrane breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|prostate(1)|skin(1) 38 all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) BRCA - Breast invasive adenocarcinoma(34;0.00034) GCACAGCCTCCATGCGCAGGA 0.597000 40 62 0 0 0.00361006 0 0 abParts 0 broad.mit.edu 37 14 106733218 106733218 + RNA SNP T C C TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr14:106733218T>C uc021ser.1 - 876 c.21328A>G Parts of antibodies, mostly variable regions. TCTGTAGATGTGTCCTCGGTC 0.512000 100 116 0 0 0.00361006 0 0 ZNF808 388558 broad.mit.edu 37 19 53056970 53056970 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:53056970C>T uc010epq.1 + 4 978 c.801C>T c.(799-801)ctC>ctT p.L267L ZNF808_uc002pzq.2_Non-coding_Transcript|ZNF808_uc010epr.2_5'Flank NM_001039886 NP_001034975 Q8N4W9 ZN808_HUMAN Homo sapiens zinc finger protein 808 (ZNF808), mRNA. 267 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(8)|kidney(3)|lung(12)|urinary_tract(1) 24 OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213) GTGGCAAGCTCTTTAATCACA 0.398000 194 34 0 0 0.00327116 0 0 SLC22A1 6580 broad.mit.edu 37 6 160575853 160575853 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr6:160575853C>T uc003qtc.3 + 8 1514 c.1409C>T c.(1408-1410)tCc>tTc p.S470F SLC22A1_uc003qtd.3_Intron NM_003057 NP_003048 O15245 S22A1_HUMAN Homo sapiens solute carrier family 22 (organic cation transporter), member 1 (SLC22A1), transcript variant 1, mRNA. 470 basolateral plasma membrane|integral to plasma membrane|membrane fraction organic cation transmembrane transporter activity|protein binding SLC22A1/CUTA(2) breast(1)|endometrium(3)|large_intestine(3)|lung(13)|upper_aerodigestive_tract(1) 21 Breast(66;0.000776)|Ovarian(120;0.00556) OV - Ovarian serous cystadenocarcinoma(65;2.73e-17)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06) ATGGTGTGTTCCTCCCTGTGT 0.428000 7 28 0 0 0.00209593 0 0 ZNF606 80095 broad.mit.edu 37 19 58511242 58511242 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:58511242G>A uc002qqw.3 - 3 729 c.111C>T c.(109-111)gcC>gcT p.A37A ZNF606_uc010yhp.2_Intron|ZNF606_uc002qqx.1_3'UTR NM_025027 NP_079303 Q8WXB4 ZN606_HUMAN Homo sapiens zinc finger protein 606 (ZNF606), mRNA. 37 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168) CCACGTGCCAGGCAGGATACT 0.597000 13 47 0 0 0.00321405 0 0 PDE11A 50940 broad.mit.edu 37 2 178592780 178592780 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:178592780C>T uc002ulq.3 - 10 2227 c.1909G>A c.(1909-1911)Gta>Ata p.V637I PDE11A_uc002ulp.3_Missense_Mutation_p.V193I|PDE11A_uc002ulr.3_Missense_Mutation_p.V387I|PDE11A_uc002uls.1_Missense_Mutation_p.V279I|PDE11A_uc002ult.1_Missense_Mutation_p.V387I|PDE11A_uc002ulu.1_Missense_Mutation_p.V279I NM_016953 NP_001070664 Q9HCR9 PDE11_HUMAN Homo sapiens phosphodiesterase 11A (PDE11A), transcript variant 4, mRNA. 637 platelet activation|signal transduction cytosol 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3) 58 OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02) AATTTCTGTACCATCCCCAGC 0.458000 Primary Pigmented Nodular Adrenocortical Disease, Familial 32 14 0 0 0.00244969 0 0 AHNAK 79026 broad.mit.edu 37 11 62298472 62298472 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr11:62298472G>A uc001ntl.3 - 4 3717 c.3417C>T c.(3415-3417)ctC>ctT p.L1139L AHNAK_uc001ntk.1_Intron NM_001620 NP_001611 Q09666 AHNK_HUMAN Homo sapiens AHNAK nucleoprotein (AHNAK), transcript variant 1, mRNA. 1139 nervous system development nucleus protein binding NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 268 Melanoma(852;0.155) CCTCGCCTTTGAGGCTGGGCA 0.532000 60 88 0 0 0.00361006 0 0 C12orf66 144577 broad.mit.edu 37 12 64588126 64588126 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr12:64588126G>A uc001srw.4 - 2 893 c.834C>T c.(832-834)agC>agT p.S278S NM_152440 NP_689653 Q96MD2 CL066_HUMAN Homo sapiens chromosome 12 open reading frame 66 (C12orf66), mRNA. 278 central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1) 5 TCGTTTGTCGGCTCAGAGCCT 0.433000 19 48 0 0 0.00361006 0 0 DNAH7 56171 broad.mit.edu 37 2 196822153 196822153 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:196822153G>A uc002utj.4 - 18 3011 c.2910C>T c.(2908-2910)ctC>ctT p.L970L NM_018897 NP_061720 Q8WXX0 DYH7_HUMAN Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA. 970 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3) 205 GAAGCAGTAGGAGCTTGCCCT 0.458000 22 23 0 0 0.00395357 0 0 ARID2 196528 broad.mit.edu 37 12 46246257 46246257 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr12:46246257C>T uc001ros.1 + 14 4351 c.4351C>T c.(4351-4353)Cct>Tct p.P1451S ARID2_uc001ror.3_Missense_Mutation_p.P1451S|ARID2_uc009zkg.1_Missense_Mutation_p.P907S|ARID2_uc009zkh.1_Missense_Mutation_p.P1078S|ARID2_uc001rou.1_Missense_Mutation_p.P785S NM_152641 NP_689854 Q68CP9 ARID2_HUMAN Homo sapiens AT rich interactive domain 2 (ARID, RFX-like) (ARID2), mRNA. 1451 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 116 Lung SC(27;0.192)|Renal(347;0.236) Lung NSC(34;0.106)|all_lung(34;0.22) OV - Ovarian serous cystadenocarcinoma(5;0.00691) GBM - Glioblastoma multiforme(48;0.0153) GCTTAATGGACCTCTAGCTTC 0.433000 """N, S, F""" hepatocellular carcinoma 70 24 0 0 0.000720815 0 0 SHROOM1 134549 broad.mit.edu 37 5 132161783 132161783 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr5:132161783G>A uc003kxx.3 - 3 855 c.50C>T c.(49-51)aCt>aTt p.T17I SHROOM1_uc003kxy.2_Missense_Mutation_p.T17I NM_001172700 NP_001166171 Q2M3G4 SHRM1_HUMAN Homo sapiens shroom family member 1 (SHROOM1), transcript variant 1, mRNA. 17 actin filament bundle assembly|cell morphogenesis cytoplasm|microtubule actin filament binding p.T17S(1) endometrium(1)|kidney(4)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 17 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) CAGGCTGCTAGTGGACGAGGC 0.711000 6 16 0 0 0.00121646 0 0 ZFHX3 463 broad.mit.edu 37 16 72828002 72828002 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr16:72828002C>T uc002fck.3 - 8 9252 c.8579G>A c.(8578-8580)gGa>gAa p.G2860E ZFHX3_uc002fcl.3_Missense_Mutation_p.G1946E NM_006885 NP_008816 Q15911 ZFHX3_HUMAN Homo sapiens zinc finger homeobox 3 (ZFHX3), transcript variant A, mRNA. 2860 muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation transcription factor complex enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11) 153 Ovarian(137;0.13) AGTTGCTATTCCCGTTGCACT 0.488000 96 38 0 0 0.00170553 0 0 ENPEP 2028 broad.mit.edu 37 4 111397747 111397747 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr4:111397747C>T uc003iab.4 + 0 519 c.177C>T c.(175-177)caC>caT p.H59H NM_001977 NP_001968 Q07075 AMPE_HUMAN Homo sapiens glutamyl aminopeptidase (aminopeptidase A) (ENPEP), mRNA. 59 cell migration|cell proliferation|cell-cell signaling|proteolysis integral to plasma membrane aminopeptidase activity|metalloexopeptidase activity|zinc ion binding breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1) 54 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.0031) L-Glutamic Acid(DB00142) CTCCTTCCCACCTGCCTTCTT 0.632000 45 33 0 0 0.000814825 0 0 FKBP15 23307 broad.mit.edu 37 9 115940928 115940928 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr9:115940928C>T uc004bgs.2 - 19 2221 c.2068G>A c.(2068-2070)Gtg>Atg p.V690M FKBP15_uc010muu.1_Missense_Mutation_p.V754M|FKBP15_uc004bgr.2_Missense_Mutation_p.V127M|FKBP15_uc011lxc.1_Missense_Mutation_p.V271M|FKBP15_uc011lxd.1_Missense_Mutation_p.V622M|FKBP15_uc010mut.1_Missense_Mutation_p.V558M NM_015258 NP_056073 Q5T1M5 FKB15_HUMAN Homo sapiens FK506 binding protein 15, 133kDa (FKBP15), mRNA. 690 endocytosis|protein folding axon|early endosome actin binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(9)|ovary(3)|urinary_tract(1) 26 TTTGCCTGCACTTTGGTGAGC 0.463000 1 10 0 0 0.000978159 0 0 RUNX1T1 862 broad.mit.edu 37 8 93029550 93029550 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr8:93029550C>T uc022axs.1 - 2 494 c.307G>A c.(307-309)Gat>Aat p.D103N RUNX1T1_uc003yfc.2_Missense_Mutation_p.D17N|RUNX1T1_uc010mam.3_Missense_Mutation_p.D17N|RUNX1T1_uc003yfe.2_Missense_Mutation_p.D7N|RUNX1T1_uc003yfd.3_Missense_Mutation_p.D44N|RUNX1T1_uc022axo.1_Missense_Mutation_p.D44N|RUNX1T1_uc010mao.3_Missense_Mutation_p.D17N|RUNX1T1_uc011lgi.2_Missense_Mutation_p.D55N|RUNX1T1_uc022axp.1_Missense_Mutation_p.D44N|RUNX1T1_uc022axq.1_Missense_Mutation_p.D44N|RUNX1T1_uc022axr.1_Missense_Mutation_p.D44N|RUNX1T1_uc022axt.1_Missense_Mutation_p.D44N|RUNX1T1_uc022axu.1_Missense_Mutation_p.D24N|RUNX1T1_uc022axv.1_Missense_Mutation_p.D44N|RUNX1T1_uc003yfb.2_Missense_Mutation_p.D7N|RUNX1T1_uc003yff.1_Missense_Mutation_p.D7N|RUNX1T1_uc003yfg.2_Missense_Mutation_p.D7N NM_001198679 NP_001185608 Q06455 MTG8_HUMAN Homo sapiens runt-related transcription factor 1; translocated to, 1 (cyclin D-related) (RUNX1T1), transcript variant 15, mRNA. 44 Poly-Ser. generation of precursor metabolites and energy nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2) 86 BRCA - Breast invasive adenocarcinoma(11;0.0141) GTCTTCACATCCACAGGTGAG 0.473000 30 31 0 0 0.0024448 0 0 MAP2K1 5604 broad.mit.edu 37 15 66727569 66727569 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr15:66727569C>T uc010bhq.3 + 1 760 c.285C>T c.(283-285)gcC>gcT p.A95A MAP2K1_uc010ujp.2_Silent_p.A73A NM_002755 NP_002746 Q02750 MP2K1_HUMAN Homo sapiens mitogen-activated protein kinase kinase 1 (MAP2K1), mRNA. 95 Protein kinase. MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Ras protein signal transduction|Toll signaling pathway|activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|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|plasma membrane ATP binding|MAP kinase kinase activity|protein serine/threonine kinase activity|protein tyrosine kinase activity endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(8)|urinary_tract(1) 20 TGGTCATGGCCAGAAAGGTGA 0.488000 43 70 0 0 0.00361006 0 0 PLEKHG2 64857 broad.mit.edu 37 19 39911444 39911444 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:39911444C>T uc010xuz.2 + 12 1676 c.1351C>T c.(1351-1353)Cct>Tct p.P451S PLEKHG2_uc010xuy.2_Missense_Mutation_p.P392S|PLEKHG2_uc002olj.3_Missense_Mutation_p.P451S|PLEKHG2_uc010xva.2_Missense_Mutation_p.P258S NM_022835 NP_073746 Q9H7P9 PKHG2_HUMAN Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 2 (PLEKHG2), mRNA. 451 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol Rho guanyl-nucleotide exchange factor activity breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 40 all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569) Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657) ACTTGGGTCTCCTCGACCTCG 0.562000 33 20 0 0 0.00332997 0 0 MUC16 94025 broad.mit.edu 37 19 9015627 9015627 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:9015627C>T uc002mkp.3 - 28 38400 c.38196G>A c.(38194-38196)caG>caA p.Q12732Q MUC16_uc021uog.1_5'Flank NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 12734 SEA 5. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 TAACCAGACTCTGCAGGACTC 0.527000 39 61 0 0 0.00361006 0 0 ZNF518B 85460 broad.mit.edu 37 4 10447658 10447658 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr4:10447658G>A uc003gmn.3 - 2 782 c.295C>T c.(295-297)Cat>Tat p.H99Y ZNF518B_uc021xme.1_Missense_Mutation_p.H99Y NM_053042 NP_444270 Q9C0D4 Z518B_HUMAN Homo sapiens zinc finger protein 518B (ZNF518B), mRNA. 99 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1) 42 CTCACAAAATGAAAATTGGGA 0.418000 45 33 0 0 0.000953801 0 0 ABCB11 8647 broad.mit.edu 37 2 169780212 169780212 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:169780212C>T uc002ueo.1 - 27 4012 c.3886G>A c.(3886-3888)Gaa>Aaa p.E1296K ABCB11_uc010zda.1_Missense_Mutation_p.E714K|ABCB11_uc010zdb.1_Missense_Mutation_p.E772K NM_003742 NP_003733 O95342 ABCBB_HUMAN Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 11 (ABCB11), mRNA. 1296 ABC transporter 2. bile acid biosynthetic process Golgi membrane|apical plasma membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1) 57 Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016) GTCCCCTTTTCAATCACCACC 0.517000 20 27 0 0 0.000878237 0 0 TIMP4 7079 broad.mit.edu 37 3 12195891 12195891 + Missense_Mutation SNP T C C TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr3:12195891T>C uc003bwo.3 - 3 924 c.413A>G c.(412-414)gAg>gGg p.E138G SYN2_uc003bwl.1_Intron|SYN2_uc003bwm.3_Intron|SYN2_uc003bwn.3_Intron NM_003256 NP_003247 Q99727 TIMP4_HUMAN Homo sapiens TIMP metallopeptidase inhibitor 4 (TIMP4), mRNA. 138 NTR. metal ion binding|metalloendopeptidase inhibitor activity p.W137C(1) central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1) 11 GGACAGGTCCTCCCAGGGCTC 0.493000 259 57 0 0 0.00361006 0 0 SV2C 22987 broad.mit.edu 37 5 75427893 75427893 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr5:75427893C>T uc003kei.1 + 1 452 c.318C>T c.(316-318)atC>atT p.I106I NM_014979 NP_055794 Q496J9 SV2C_HUMAN Homo sapiens synaptic vesicle glycoprotein 2C (SV2C), mRNA. 106 neurotransmitter transport cell junction|integral to membrane|synaptic vesicle membrane transmembrane transporter activity NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184) OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40) AGGACAGCATCGTGTCAGTGG 0.552000 21 22 0 0 0.00152264 0 0 COL4A2 1284 broad.mit.edu 37 13 111111224 111111224 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr13:111111224G>A uc001vqx.3 + 21 1828 c.1539G>A c.(1537-1539)agG>agA p.R513R NM_001846 NP_001837 P08572 CO4A2_HUMAN Homo sapiens collagen, type IV, alpha 2 (COL4A2), mRNA. 513 Triple-helical region. angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis collagen type IV extracellular matrix structural constituent|protein binding NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922) Breast(118;0.212) BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151) AGCCGGGGAGGAAAGGGGACA 0.602000 28 27 0 0 0.000720815 0 0 RCOR3 55758 broad.mit.edu 37 1 211462668 211462668 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:211462668C>T uc010psw.2 + 7 1064 c.869C>T c.(868-870)tCc>tTc p.S290F RCOR3_uc010psv.1_Non-coding_Transcript|RCOR3_uc001hie.3_Missense_Mutation_p.S290F|RCOR3_uc001hif.3_Missense_Mutation_p.S290F|RCOR3_uc001hig.3_Missense_Mutation_p.S232F NM_001136223 NP_060724 Q9P2K3 RCOR3_HUMAN Homo sapiens REST corepressor 3 (RCOR3), transcript variant 1, mRNA. 232 SANT 2. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 21 OV - Ovarian serous cystadenocarcinoma(81;0.00961)|all cancers(67;0.0999)|Epithelial(68;0.171) GTAGCAGTTTCCTGTAGTCCC 0.413000 45 20 0 0 0.00121646 0 0 ZNF528 84436 broad.mit.edu 37 19 52918976 52918976 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:52918976C>T uc002pzh.3 + 6 1297 c.871C>T c.(871-873)Cat>Tat p.H291Y ZNF528_uc002pzi.3_Missense_Mutation_p.H58Y NM_032423 NP_115799 Q3MIS6 ZN528_HUMAN Homo sapiens zinc finger protein 528 (ZNF528), mRNA. 291 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(6)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 39 GBM - Glioblastoma multiforme(134;0.00249)|OV - Ovarian serous cystadenocarcinoma(262;0.00817) TCAAAGAATTCATACTGGAGA 0.378000 88 90 0 0 0.00361006 0 0 SETDB2 83852 broad.mit.edu 37 13 50062521 50062521 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr13:50062521C>T uc001vcz.3 + 12 2614 c.1708C>T c.(1708-1710)Cca>Tca p.P570S SETDB2_uc010adh.2_3'UTR|SETDB2_uc001vda.3_Missense_Mutation_p.P558S NM_031915 NP_114121 Q96T68 SETB2_HUMAN Homo sapiens SET domain, bifurcated 2 (SETDB2), transcript variant 1, mRNA. 570 SET. cell division|chromosome segregation|heart looping|left/right axis specification|mitosis|negative regulation of transcription, DNA-dependent chromosome|nucleus DNA binding|histone methyltransferase activity (H3-K9 specific)|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1) 15 Lung NSC(96;0.000408)|Breast(56;0.00131)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236) KIRC - Kidney renal clear cell carcinoma(9;0.206) GBM - Glioblastoma multiforme(99;3.1e-09) AGAAACTCCACCAAGGAGCAG 0.378000 66 37 0 0 0.00148497 0 0 RTF1 23168 broad.mit.edu 37 15 41750008 41750008 + Missense_Mutation SNP T G G TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr15:41750008T>G uc001zny.3 + 3 608 c.596T>G c.(595-597)aTg>aGg p.M199R NM_015138 NP_055953 Q92541 RTF1_HUMAN Homo sapiens Rtf1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae) (RTF1), mRNA. 199 Glu-rich. histone modification|regulation of transcription, DNA-dependent|transcription initiation, DNA-dependent nucleoplasm protein binding|single-stranded DNA binding central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1) 18 all_cancers(109;1.79e-19)|all_epithelial(112;8.18e-17)|Lung NSC(122;3.16e-11)|all_lung(180;8.14e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143) OV - Ovarian serous cystadenocarcinoma(18;1.15e-16)|GBM - Glioblastoma multiforme(113;1.81e-06)|BRCA - Breast invasive adenocarcinoma(123;0.119) CTGGAACAGATGACAGAGAAA 0.502000 89 61 0 0 0.00361006 0 0 ZNF682 91120 broad.mit.edu 37 19 20117385 20117385 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:20117385C>T uc002noq.3 - 3 1049 c.926G>A c.(925-927)gGa>gAa p.G309E ZNF682_uc002noo.3_Missense_Mutation_p.G277E|ZNF682_uc002nop.3_Missense_Mutation_p.G277E|ZNF682_uc010eck.3_Missense_Mutation_p.G233E NM_033196 NP_001070817 O95780 ZN682_HUMAN Homo sapiens zinc finger protein 682 (ZNF682), transcript variant 1, mRNA. 309 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1) 14 GGGTTTCTTTCCAGTGTGAAT 0.403000 46 50 0 0 0.00361006 0 0 FAM83B 222584 broad.mit.edu 37 6 54806498 54806498 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr6:54806498G>A uc003pck.3 + 4 2845 c.2729G>A c.(2728-2730)aGa>aAa p.R910K NM_001010872 NP_001010872 Q5T0W9 FA83B_HUMAN Homo sapiens family with sequence similarity 83, member B (FAM83B), mRNA. 910 autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1) 71 Lung NSC(77;0.0178)|Renal(3;0.122) ACCCCTGAAAGAAGACCTACT 0.453000 47 39 0 0 0.00128727 0 0 ULK2 9706 broad.mit.edu 37 17 19680995 19680995 + Missense_Mutation SNP T G G TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr17:19680995T>G uc002gwm.4 - 25 3460 c.2951A>C c.(2950-2952)cAg>cCg p.Q984P ULK2_uc002gwn.3_Missense_Mutation_p.Q984P NM_001142610 NP_055498 Q8IYT8 ULK2_HUMAN Homo sapiens unc-51-like kinase 2 (C. elegans) (ULK2), transcript variant 2, mRNA. 984 signal transduction ATP binding|protein binding|protein serine/threonine kinase activity large_intestine(1)|skin(4)|stomach(1) 6 all_cancers(12;4.97e-05)|all_epithelial(12;0.00362)|Breast(13;0.186) ATCTTCGGTCTGCTGAAACAT 0.408000 4 13 0 0 0.00185496 0 0 FLG 2312 broad.mit.edu 37 1 152281741 152281741 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:152281741G>A uc001ezu.1 - 2 5657 c.5621C>T c.(5620-5622)tCa>tTa p.S1874L NM_002016 NP_002007 P20930 FILA_HUMAN Homo sapiens filaggrin (FLG), mRNA. 1874 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity p.S1874L(2) autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GCCGTCTCCTGATTGTTTCTC 0.572000 Ichthyosis 118 200 0 0 0.00361006 0 0 ALDH1L1 10840 broad.mit.edu 37 3 125844543 125844543 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr3:125844543G>A uc003eim.1 - 14 1906 c.1716C>T c.(1714-1716)ccC>ccT p.P572P ALDH1L1_uc010hse.1_Non-coding_Transcript|ALDH1L1_uc011bki.1_Silent_p.P471P NM_012190 NP_036322 O75891 AL1L1_HUMAN Homo sapiens aldehyde dehydrogenase 1 family, member L1 (ALDH1L1), mRNA. 572 Aldehyde dehydrogenase. 10-formyltetrahydrofolate catabolic process|biosynthetic process acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 52 GBM - Glioblastoma multiforme(114;0.0462) Tetrahydrofolic acid(DB00116) GATAGTTCCAGGGGATGATGA 0.577000 34 26 0 0 0.000720815 0 0 PCDHB7 56129 broad.mit.edu 37 5 140554346 140554346 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr5:140554346G>A uc003lit.3 + 0 2104 c.1930G>A c.(1930-1932)Gtc>Atc p.V644I NM_018940 NP_061763 Q9Y5E2 PCDB7_HUMAN Homo sapiens protocadherin beta 7 (PCDHB7), mRNA. 644 Cadherin 6. calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1) 119 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GGTGGTGCTGGTCAAGGACAA 0.711000 20 22 0 0 0.00178596 0 0 TTN 7273 broad.mit.edu 37 2 179567192 179567193 + Missense_Mutation DNP GG TT TT TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:179567192_179567193GG>TT uc021vsy.1 - 103 26914_26915 c.26689_26690CC>AA c.(26689-26691)cca>AAa p.P8897K TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.P5558K|TTN_uc010fre.1_Missense_Mutation_p.P8K NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 9824 Ig-like 72. 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) TTCATCGTCTGGGGTCACATTG 0.426000 331 10 0 0 6.4e-05 0 0 TRPV1 7442 broad.mit.edu 37 17 3477212 3477212 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr17:3477212G>A uc010vro.2 - 12 1884 c.1851C>T c.(1849-1851)tcC>tcT p.S617S TRPV1_uc010vrp.2_Silent_p.S546S|TRPV1_uc010vrq.2_Silent_p.S604S|TRPV1_uc010vrr.2_Silent_p.S606S|TRPV1_uc010vrs.2_Silent_p.S606S|TRPV1_uc010vrt.2_Silent_p.S606S|TRPV1_uc010vru.2_Silent_p.S606S NM_080706 NP_542437 Q8NER1 TRPV1_HUMAN Homo sapiens transient receptor potential cation channel, subfamily V, member 1 (TRPV1), transcript variant 3, mRNA. 606 cell surface receptor linked signaling pathway|chemosensory behavior|thermoception cell junction|dendritic spine membrane|integral to plasma membrane|postsynaptic membrane ATP binding|calcium channel activity|calmodulin binding central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1) 17 Lung(1;0.055)|COAD - Colon adenocarcinoma(5;0.0896)|LUAD - Lung adenocarcinoma(1115;0.131) Alpha-Linolenic Acid(DB00132)|Aspartame(DB00168)|Icosapent(DB00159) CAGACGGCAGGGAGTCATTCT 0.622000 1 46 0 0 0.00361006 0 0 SIK1 150094 broad.mit.edu 37 21 44839251 44839251 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr21:44839251G>A uc002zdf.2 - 9 1354 c.1227C>T c.(1225-1227)ctC>ctT p.L409L NM_173354 NP_775490 P57059 SIK1_HUMAN Homo sapiens salt-inducible kinase 1 (SIK1), mRNA. 409 anoikis|cell cycle|cell differentiation|intracellular protein kinase cascade|multicellular organismal development|regulation of cell differentiation|regulation of mitotic cell cycle nucleus ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|testis(2)|urinary_tract(1) 21 GCGAGCTCTGGAGCTCACAGT 0.677000 14 13 0 0 0.00136819 0 0 ZNF677 342926 broad.mit.edu 37 19 53740812 53740812 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:53740812G>A uc002qbg.1 - 4 1319 c.1168C>T c.(1168-1170)Ctt>Ttt p.L390F ZNF677_uc002qbf.1_Missense_Mutation_p.L390F NM_182609 NP_872415 Q86XU0 ZN677_HUMAN Homo sapiens zinc finger protein 677 (ZNF677), mRNA. 390 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(13)|lung(6)|ovary(1)|pancreas(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 GBM - Glioblastoma multiforme(134;0.00352) TGTTGGGTAAGGCTTGAACGT 0.413000 53 60 0 0 0.00361006 0 0 MGAT5B 146664 broad.mit.edu 37 17 74922790 74922790 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr17:74922790C>T uc002jti.3 + 8 1405 c.1302C>T c.(1300-1302)ccC>ccT p.P434P MGAT5B_uc002jth.3_Silent_p.P423P NM_198955 NP_945193 Q3V5L5 MGT5B_HUMAN Homo sapiens mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B (MGAT5B), transcript variant 2, mRNA. 423 Golgi membrane|integral to membrane alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity|metal ion binding breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(15)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 ACCTCAACCCCAAGCAGTTCA 0.627000 49 66 0 0 0.00361006 0 0 PI15 51050 broad.mit.edu 37 8 75756215 75756215 + Splice_Site SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr8:75756215G>A uc003yal.3 + 3 453 c.274_splice c.e3-1 p.V92_splice AK024242_uc003yak.1_Intron|PI15_uc003yam.3_Splice_Site_p.V92_splice NM_015886 NP_056970 O43692 PI15_HUMAN Homo sapiens peptidase inhibitor 15 (PI15), mRNA. 92 extracellular region peptidase inhibitor activity p.?(1) breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|skin(1) 30 Breast(64;0.137) BRCA - Breast invasive adenocarcinoma(89;0.104)|Epithelial(68;0.118) TTCCCCTACAGGTTTGGGATG 0.393000 56 62 0 0 0.00361006 0 0 TINAGL1 64129 broad.mit.edu 37 1 32052509 32052509 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:32052509G>A uc001bta.3 + 11 1459 c.1333G>A c.(1333-1335)Gag>Aag p.E445K TINAGL1_uc010ogj.2_Missense_Mutation_p.E414K|TINAGL1_uc021oko.1_Missense_Mutation_p.E340K NM_022164 NP_001191344 Q9GZM7 TINAL_HUMAN Homo sapiens tubulointerstitial nephritis antigen-like 1 (TINAGL1), transcript variant 1, mRNA. 445 endosome transport|immune response|proteolysis extracellular region cysteine-type endopeptidase activity|extracellular matrix structural constituent|polysaccharide binding|scavenger receptor activity breast(2)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(4)|prostate(1)|skin(3)|urinary_tract(1) 18 Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104) STAD - Stomach adenocarcinoma(196;0.0526)|READ - Rectum adenocarcinoma(331;0.145) CGGCGTCAATGAGTGCGACAT 0.682000 4 9 0 0 0.000673444 0 0 CDR1 1038 broad.mit.edu 37 X 139865906 139865906 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chrX:139865906G>A uc004fbg.1 - 0 818 c.626C>T c.(625-627)tCc>tTc p.S209F AK054921_uc004fbf.1_Non-coding_Transcript NM_004065 NP_004056 P51861 CDR1_HUMAN Homo sapiens cerebellar degeneration-related protein 1, 34kDa (CDR1), mRNA. 209 breast(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(2)|skin(4)|urinary_tract(1) 25 Acute lymphoblastic leukemia(192;7.65e-05) Lung SC(4;0.051) ACATCTTCCGGAAAAAATCCA 0.443000 7 51 0 0 0.00361006 0 0 MYSM1 114803 broad.mit.edu 37 1 59147793 59147793 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:59147793G>A uc009wab.2 - 7 946 c.923C>T c.(922-924)tCa>tTa p.S308L MYSM1_uc001czc.3_Non-coding_Transcript NM_001085487 NP_001078956 Q5VVJ2 MYSM1_HUMAN Homo sapiens Myb-like, SWIRM and MPN domains 1 (MYSM1), mRNA. 308 histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent chromatin remodeling complex DNA binding|histone binding|metal ion binding|metallopeptidase activity|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 all_cancers(7;9.36e-06) TAATTCAATTGATTTTTTGTC 0.373000 58 103 0 0 0.00361006 0 0 UBC 7316 broad.mit.edu 37 17 21731254 21731254 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr17:21731254G>A uc002gyy.3 + 1 681 c.556G>A c.(556-558)Gaa>Aaa p.E186K P0CG48 UBC_HUMAN SubName: Full=Uncharacterized protein; 338 Ubiquitin-like 3. DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|JNK cascade|M/G1 transition of mitotic cell cycle|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|S phase of mitotic cell cycle|T cell receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|innate immune response|mRNA metabolic process|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane protein binding breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308) CCAAGATAAAGAAGGCATCCC 0.527000 7 28 0 0 0.001512 0 0 SNCAIP 9627 broad.mit.edu 37 5 121759307 121759307 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr5:121759307C>T uc003ksw.1 + 3 1081 c.875C>T c.(874-876)tCc>tTc p.S292F SNCAIP_uc011cwl.1_Intron|SNCAIP_uc010jct.3_Missense_Mutation_p.S292F|SNCAIP_uc003ksy.1_Intron|SNCAIP_uc003ksx.1_Missense_Mutation_p.S339F|SNCAIP_uc003ksz.1_Intron|SNCAIP_uc010jcu.2_Intron|SNCAIP_uc011cwm.1_Intron|SNCAIP_uc003kta.1_Intron|SNCAIP_uc010jcv.1_Non-coding_Transcript|SNCAIP_uc010jcw.1_Intron|SNCAIP_uc010jcx.1_Missense_Mutation_p.S292F NM_005460 NP_005451 Q9Y6H5 SNCAP_HUMAN Homo sapiens synuclein, alpha interacting protein (SNCAIP), transcript variant 1, mRNA. 292 cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion cytoplasm|neuronal cell body|nucleolus|presynaptic membrane ubiquitin protein ligase binding NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1) 39 all_cancers(142;0.00787)|Prostate(80;0.0327) KIRC - Kidney renal clear cell carcinoma(527;0.206) OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232) GCAGCAGAATCCAAACCAGAA 0.473000 32 10 0 0 0.000442599 0 0 SLC46A3 283537 broad.mit.edu 37 13 29287225 29287225 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr13:29287225G>A uc001usj.3 - 2 1194 c.652C>T c.(652-654)Ctc>Ttc p.L218F SLC46A3_uc001usg.3_Missense_Mutation_p.L143F|SLC46A3_uc001usi.3_Missense_Mutation_p.L218F|SLC46A3_uc001ush.3_Missense_Mutation_p.L218F|SLC46A3_uc001usk.3_Missense_Mutation_p.L143F NM_001135919 NP_001129391 Q7Z3Q1 S46A3_HUMAN Homo sapiens solute carrier family 46, member 3 (SLC46A3), transcript variant 2, mRNA. 218 transmembrane transport integral to membrane central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(2)|prostate(1)|skin(1) 15 Lung SC(185;0.0367) all cancers(112;0.159) GGATCTCCGAGAAAAAATAAA 0.338000 20 24 0 0 0.00332997 0 0 TPRG1 285386 broad.mit.edu 37 3 188933083 188933083 + Silent SNP G A A rs141310543 TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr3:188933083G>A uc003frv.2 + 7 1440 c.213G>A c.(211-213)ccG>ccA p.P71P TPRG1_uc003frw.2_Silent_p.P71P NM_198485 NP_940887 Q6ZUI0 TPRG1_HUMAN Homo sapiens tumor protein p63 regulated 1 (TPRG1), mRNA. 71 endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|skin(2)|urinary_tract(1) 16 all_cancers(143;6.12e-12)|all_hematologic(3;0.0359)|Ovarian(172;0.0925) all_lung(153;8.23e-09)|Lung NSC(153;3.55e-06)|all_neural(597;0.0019)|Myeloproliferative disorder(1037;0.0255) Lung(62;6.93e-06) GBM - Glioblastoma multiforme(93;4.77e-14) CCACACAGCCGGGGGCCATTG 0.488000 51 32 0 0 0.00327116 0 0 ICA1 3382 broad.mit.edu 37 7 8178486 8178486 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr7:8178486C>T uc003sro.4 - 11 1180 c.1044G>A c.(1042-1044)atG>atA p.M348I ICA1_uc010ktr.3_Missense_Mutation_p.M377I|ICA1_uc003srm.3_Missense_Mutation_p.M348I|ICA1_uc003srn.4_Missense_Mutation_p.M274I|ICA1_uc003srq.3_Missense_Mutation_p.M348I|ICA1_uc003srr.3_Missense_Mutation_p.M347I|ICA1_uc010kts.3_Intron NM_001136020 NP_071682 Q05084 ICA69_HUMAN Homo sapiens islet cell autoantigen 1, 69kDa (ICA1), mRNA. 348 neurotransmitter transport Golgi membrane|cell junction|cytosol|nucleus|secretory granule membrane|synaptic vesicle membrane|transport vesicle membrane breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1) 23 Ovarian(82;0.0612) UCEC - Uterine corpus endometrioid carcinoma (126;0.246) CCTCAGATTTCATGTCTAATA 0.279000 74 67 0 0 0.00361006 0 0 OPRL1 4987 broad.mit.edu 37 20 62729457 62729457 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr20:62729457C>T uc002yic.3 + 3 955 c.536C>T c.(535-537)tCt>tTt p.S179F OPRL1_uc002yid.3_Missense_Mutation_p.S179F|OPRL1_uc021wgs.1_Missense_Mutation_p.S179F|OPRL1_uc002yif.4_Missense_Mutation_p.S174F NM_182647 NP_872588 P41146 OPRX_HUMAN Homo sapiens opiate receptor-like 1 (OPRL1), transcript variant 1, mRNA. 179 elevation of cytosolic calcium ion concentration|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception integral to plasma membrane X-opioid receptor activity|protein binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(2)|urinary_tract(1) 19 all_cancers(38;4.74e-11)|all_epithelial(29;1.33e-12)|Lung NSC(23;3.27e-09)|all_lung(23;1.02e-08) GCCCTGGCCTCTGTTGTCGGT 0.647000 68 20 0 0 0.00152264 0 0 RFPL4B 442247 broad.mit.edu 37 6 112671178 112671178 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr6:112671178C>T uc003pvx.1 + 2 580 c.268C>T c.(268-270)Ctc>Ttc p.L90F RFPL4B_uc021zdy.1_Missense_Mutation_p.L90F NM_001013734 NP_001013756 Q6ZWI9 RFPLB_HUMAN Homo sapiens ret finger protein-like 4B (RFPL4B), mRNA. 90 B30.2/SPRY. zinc ion binding p.L90L(1) breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|skin(1) 14 all_cancers(87;9.44e-05)|all_hematologic(75;0.000114)|all_epithelial(87;0.00265)|Colorectal(196;0.0209) all cancers(137;0.0202)|OV - Ovarian serous cystadenocarcinoma(136;0.0477)|Epithelial(106;0.0646)|GBM - Glioblastoma multiforme(226;0.0866)|BRCA - Breast invasive adenocarcinoma(108;0.244) GAGGGAGGAGCTCCGGCATTT 0.522000 3 35 0 0 0.000953801 0 0 TBC1D10A 83874 broad.mit.edu 37 22 30722746 30722746 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr22:30722746C>T uc010gvu.3 - 0 210 c.125G>A c.(124-126)gGg>gAg p.G42E TBC1D10A_uc003ahk.4_Missense_Mutation_p.G42E NM_001204240 NP_001191169 Q9BXI6 TB10A_HUMAN Homo sapiens TBC1 domain family, member 10A (TBC1D10A), transcript variant 1, mRNA. 42 intracellular|microvillus PDZ domain binding|Rab GTPase activator activity|guanyl-nucleotide exchange factor activity cervix(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 23 CGAGTCAGACCCGAGAGAGCT 0.741000 50 20 0 0 0.000878237 0 0 C12orf53 196500 broad.mit.edu 37 12 6806591 6806591 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr12:6806591C>T uc021quc.1 - 2 724 c.385G>A c.(385-387)Gac>Aac p.D129N C12orf53_uc001qqf.2_Missense_Mutation_p.D129N|C12orf53_uc001qqg.2_Missense_Mutation_p.D129N NM_001244015 NP_001230944 Q8IYJ0 CL053_HUMAN Homo sapiens chromosome 12 open reading frame 53 (C12orf53), transcript variant 3, mRNA. 129 integral to membrane kidney(2)|large_intestine(1)|lung(3) 6 AAACCATAGTCCAGAAATCCG 0.612000 33 14 0 0 0.000566183 0 0 MUC5B 727897 broad.mit.edu 37 11 1271018 1271018 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr11:1271018G>A uc001lta.3 + 30 12967 c.12908G>A c.(12907-12909)aGg>aAg p.R4303K NM_002458 NP_002449 Q9HC84 MUC5B_HUMAN Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA. 4303 23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich. cell adhesion extracellular region extracellular matrix structural constituent|protein binding cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1) 137 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) TCCAGTCCAAGGACTGCAACC 0.627000 55 40 0 0 0.00170553 0 0 ARHGAP29 9411 broad.mit.edu 37 1 94650499 94650500 + Missense_Mutation DNP CC TT TT TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:94650499_94650500CC>TT uc001dqj.4 - 17 2406_2407 c.2037_2038GG>AA c.(2035-2040)aaggaa>aaAAaa p.E680K ARHGAP29_uc009wdq.1_Non-coding_Transcript|ARHGAP29_uc001dqk.3_Missense_Mutation_p.E246K NM_004815 NP_004806 Q52LW3 RHG29_HUMAN Homo sapiens Rho GTPase activating protein 29 (ARHGAP29), mRNA. 680 Rho-GAP. Rho protein signal transduction cytosol Rho GTPase activator activity|metal ion binding NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 54 all_lung(203;0.000732)|Lung NSC(277;0.00328) all cancers(265;0.0187)|Epithelial(280;0.159) CCATCTGGTTCCTTTTTTGCAA 0.317000 74 19 0 0 6.4e-05 0 0 SRRM4 84530 broad.mit.edu 37 12 119540140 119540140 + Nonsense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr12:119540140G>A uc001txa.2 + 1 619 c.231G>A c.(229-231)tgG>tgA p.W77* NM_194286 NP_919262 A7MD48 SRRM4_HUMAN Homo sapiens serine/arginine repetitive matrix 4 (SRRM4), mRNA. 77 RNA splicing|cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing nucleus mRNA binding breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1) 24 CCAACAGTTGGGAGAGAGACA 0.552000 10 11 0 0 0.000673444 0 0 MTL5 9633 broad.mit.edu 37 11 68514739 68514739 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr11:68514739G>A uc001ooc.3 - 2 707 c.567C>T c.(565-567)ttC>ttT p.F189F MTL5_uc001ood.1_Silent_p.F189F|MTL5_uc009ysi.1_Silent_p.F189F|MTL5_uc001ooe.3_Silent_p.F189F NM_004923 NP_004914 Q9Y4I5 MTL5_HUMAN Homo sapiens metallothionein-like 5, testis-specific (tesmin) (MTL5), transcript variant 1, mRNA. 189 cell differentiation|cellular metal ion homeostasis|multicellular organismal development|response to metal ion|spermatogenesis cytoplasm|nucleus|soluble fraction metal ion binding breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2) 15 Esophageal squamous(3;4.37e-12) LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.185) GGGACGATGGGAACTTGCAAC 0.418000 18 31 0 0 0.00209593 0 0 COL1A2 1278 broad.mit.edu 37 7 94049548 94049548 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr7:94049548G>A uc003ung.1 + 34 2554 c.2083G>A c.(2083-2085)Gaa>Aaa p.E695K COL1A2_uc011kib.1_Intron|COL1A2_uc010lfi.1_Intron NM_000089 NP_000080 P08123 CO1A2_HUMAN Homo sapiens collagen, type I, alpha 2 (COL1A2), mRNA. 695 Missing (in OI2A). Rho protein signal transduction|axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway collagen type I|extracellular space|plasma membrane extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging COL1A2/PLAG1(3) NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 115 all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08) STAD - Stomach adenocarcinoma(171;0.0031) Collagenase(DB00048) ATTATAGGGCGAAGCTGGGGc 0.502000 HNSCC(75;0.22) 108 34 0 0 0.00209593 0 0 CORO2A 7464 broad.mit.edu 37 9 100897226 100897226 + Nonsense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr9:100897226C>T uc004aym.3 - 3 446 c.330G>A c.(328-330)tgG>tgA p.W110* CORO2A_uc004ayl.3_Nonsense_Mutation_p.W110* NM_052820 NP_438171 Q92828 COR2A_HUMAN Homo sapiens coronin, actin binding protein, 2A (CORO2A), transcript variant 2, mRNA. 110 actin cytoskeleton organization|intracellular signal transduction actin cytoskeleton|transcriptional repressor complex actin filament binding endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|skin(4)|urinary_tract(1) 26 Acute lymphoblastic leukemia(62;0.0559) TGGGGATGCTCCAGATCTTAA 0.632000 5 42 0 0 0.00361006 0 0 CUBN 8029 broad.mit.edu 37 10 16967596 16967596 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr10:16967596C>T uc001ioo.3 - 41 6501 c.6449G>A c.(6448-6450)gGg>gAg p.G2150E NM_001081 NP_001072 O60494 CUBN_HUMAN Homo sapiens cubilin (intrinsic factor-cobalamin receptor) (CUBN), mRNA. 2150 CUB 15. cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity p.G2150V(2) breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8) 241 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) CAAGTAATCCCCCTGGTTGCA 0.423000 28 8 0 0 0.000274275 0 0 NLRP13 126204 broad.mit.edu 37 19 56424369 56424369 + Nonsense_Mutation SNP T A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:56424369T>A uc010ygg.2 - 4 839 c.814A>T c.(814-816)Aaa>Taa p.K272* NM_176810 NP_789780 Q86W25 NAL13_HUMAN Homo sapiens NLR family, pyrin domain containing 13 (NLRP13), mRNA. 272 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) TACCTTATTTTATGGCAGCTG 0.443000 117 19 0 0 0.00074312 0 0 FAM123C 205147 broad.mit.edu 37 2 131520787 131520787 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:131520787C>T uc021voy.1 + 0 1142 c.1142C>T c.(1141-1143)tCc>tTc p.S381F FAM123C_uc002trw.2_Missense_Mutation_p.S381F|FAM123C_uc010fmv.2_Missense_Mutation_p.S381F|FAM123C_uc010fms.1_Missense_Mutation_p.S381F|FAM123C_uc010fmt.1_Missense_Mutation_p.S381F|FAM123C_uc010fmu.1_Missense_Mutation_p.S381F NM_152698 NP_689911 Q8N944 F123C_HUMAN Homo sapiens family with sequence similarity 123C (FAM123C), transcript variant 1, mRNA. 381 p.V380M(1) breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(43)|ovary(2)|pancreas(4)|prostate(3)|skin(8) 73 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.13) GAATCCGTGTCCACAAGTGAC 0.637000 20 16 0 0 0.000422831 0 0 EDN2 1907 broad.mit.edu 37 1 41948200 41948200 + Missense_Mutation SNP C G G TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:41948200C>G uc001cgx.3 - 2 353 c.281G>C c.(280-282)aGg>aCg p.R94T EDN2_uc001cgu.3_Non-coding_Transcript|EDN2_uc001cgv.3_Non-coding_Transcript|EDN2_uc009vwh.3_5'UTR|EDN2_uc001cgw.3_Non-coding_Transcript|EDN2_uc009vwi.3_Intron|EDN2_uc009vwj.3_Intron NM_001956 NP_001947 P20800 EDN2_HUMAN Homo sapiens endothelin 2 (EDN2), mRNA. 94 artery smooth muscle contraction|calcium-mediated signaling|cytokine-mediated signaling pathway|elevation of cytosolic calcium ion concentration|hormonal regulation of the force of heart contraction|inositol phosphate-mediated signaling|macrophage activation|macrophage chemotaxis|neutrophil chemotaxis|positive regulation of cell proliferation|positive regulation of heart rate|positive regulation of leukocyte chemotaxis|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of the force of heart contraction by chemical signal|prostaglandin biosynthetic process|regulation of systemic arterial blood pressure by endothelin|regulation of vasoconstriction|vein smooth muscle contraction extracellular space endothelin B receptor binding|hormone activity endometrium(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1) 8 Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) CTGACAGCGCCTTGGCAGGGA 0.682000 31 91 0 0 0.00361006 0 0 ESRP1 54845 broad.mit.edu 37 8 95653570 95653570 + Missense_Mutation SNP G T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr8:95653570G>T uc003ygq.4 + 0 207 c.24G>T c.(22-24)ttG>ttT p.L8F ESRP1_uc003ygr.4_Missense_Mutation_p.L8F|ESRP1_uc003ygs.4_Missense_Mutation_p.L8F|ESRP1_uc003ygt.4_Missense_Mutation_p.L8F|ESRP1_uc003ygu.4_Missense_Mutation_p.L8F|LOC100288748_uc022ayh.1_5'Flank NM_017697 NP_060167 Q6NXG1 ESRP1_HUMAN Homo sapiens epithelial splicing regulatory protein 1 (ESRP1), transcript variant 1, mRNA. 8 RNA splicing|mRNA processing|regulation of RNA splicing nucleus|plasma membrane mRNA binding|nucleotide binding ESRP1/RAF1(4) NS(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(2) 20 CGGATTACTTGGTGGTGCTTT 0.587000 420 12 0.000308642 0.000891427 0.00316338 1 0 CHDH 55349 broad.mit.edu 37 3 53852986 53852986 + Nonsense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr3:53852986G>A uc003dgz.3 - 7 1786 c.1345C>T c.(1345-1347)Cag>Tag p.Q449* NM_018397 NP_060867 Q8NE62 CHDH_HUMAN Homo sapiens choline dehydrogenase (CHDH), nuclear gene encoding mitochondrial protein, mRNA. 449 alcohol metabolic process choline dehydrogenase activity|flavin adenine dinucleotide binding NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1) 17 Hepatocellular(537;0.152) BRCA - Breast invasive adenocarcinoma(193;0.000158)|KIRC - Kidney renal clear cell carcinoma(284;0.00588)|Kidney(284;0.00673)|OV - Ovarian serous cystadenocarcinoma(275;0.118) Choline(DB00122) TAGTTGGGCTGGATCACAGGG 0.527000 7 38 0 0 0.00170553 0 0 PNCK 139728 broad.mit.edu 37 X 152936627 152936627 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chrX:152936627G>A uc011myu.2 - 7 1068 c.882C>T c.(880-882)ccC>ccT p.P294P PNCK_uc011myt.2_Silent_p.P228P|PNCK_uc004fhz.4_Silent_p.P109P|PNCK_uc010nuh.2_3'UTR|PNCK_uc011myv.2_3'UTR|PNCK_uc011myw.2_3'UTR NM_001039582 NP_001034671 Q6P2M8 KCC1B_HUMAN Homo sapiens pregnancy up-regulated non-ubiquitously expressed CaM kinase (PNCK), transcript variant 1, mRNA. 211 Calmodulin-binding (By similarity). cytoplasm|nucleus ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity breast(2)|lung(3)|skin(1) 6 all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) CGTCGTAGAAGGGGGGGTACC 0.592000 4 16 0 0 0.000566183 0 0 OR4X2 119764 broad.mit.edu 37 11 48266696 48266696 + Missense_Mutation SNP A C C TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr11:48266696A>C uc001ngs.1 + 0 41 c.41A>C c.(40-42)gAg>gCg p.E14A NM_001004727 NP_001004727 Q8NGF9 OR4X2_HUMAN Homo sapiens olfactory receptor, family 4, subfamily X, member 2 (OR4X2), mRNA. 14 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|large_intestine(4)|lung(12)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1) 20 CCCAACCAGGAGGTGCAGAGG 0.448000 55 17 0 0 0.000958276 0 0 ARHGAP44 9912 broad.mit.edu 37 17 12823137 12823137 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr17:12823137C>T uc002gnr.4 + 5 780 c.453C>T c.(451-453)tcC>tcT p.S151S ARHGAP44_uc010vvk.2_Silent_p.S151S|ARHGAP44_uc010vvl.2_Silent_p.S151S|ARHGAP44_uc002gns.4_5'UTR|ARHGAP44_uc010vvm.2_Silent_p.S151S|ARHGAP44_uc010vvn.2_Non-coding_Transcript NM_014859 NP_055674 Q17R89 RHG44_HUMAN Homo sapiens Rho GTPase activating protein 44 (ARHGAP44), mRNA. 151 BAR. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|urinary_tract(1) 31 ACATGGATTCCTCACGAACCA 0.388000 0 26 0 0 0.00106085 0 0 PTPRR 5801 broad.mit.edu 37 12 71286618 71286618 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr12:71286618G>A uc001swi.2 - 1 612 c.198C>T c.(196-198)taC>taT p.Y66Y NM_002849 NP_570897 Q15256 PTPRR_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, R (PTPRR), transcript variant 1, mRNA. 66 in utero embryonic development Golgi apparatus|cell surface|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity p.S65N(1) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 41 GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132) COAD - Colon adenocarcinoma(1;0.136) AAGAGGAATGGTAGCTATGTC 0.453000 123 50 0 0 0.00361006 0 0 FAM125B 89853 broad.mit.edu 37 9 129143402 129143402 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr9:129143402C>T uc004bqh.2 + 2 350 c.264C>T c.(262-264)tcC>tcT p.S88S FAM125B_uc004bqg.2_Silent_p.S88S|FAM125B_uc011lzy.2_Silent_p.S73S|FAM125B_uc010mxd.3_Silent_p.S81S|FAM125B_uc011lzz.1_Silent_p.S81S NM_033446 NP_258257 Q9H7P6 F125B_HUMAN Homo sapiens family with sequence similarity 125, member B (FAM125B), transcript variant 1, mRNA. 88 MABP. protein transport late endosome membrane kidney(1)|large_intestine(4)|lung(4)|urinary_tract(1) 10 TATTTAAATCCAAGGTTACCA 0.423000 3 16 0 0 0.00152264 0 0 ADAMTS10 81794 broad.mit.edu 37 19 8657694 8657694 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:8657694G>A uc002mkj.1 - 12 1814 c.1540C>T c.(1540-1542)Ccg>Tcg p.P514S ADAMTS10_uc002mki.1_5'Flank|ADAMTS10_uc002mkk.1_Missense_Mutation_p.P146S NM_030957 NP_112219 Q9H324 ATS10_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 10 (ADAMTS10), mRNA. 514 Disintegrin. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1) 53 TCGGCGGCCGGGATGCTGTTG 0.716000 39 31 0 0 0.00327116 0 0 POLR3B 55703 broad.mit.edu 37 12 106824229 106824229 + Missense_Mutation SNP C G G TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr12:106824229C>G uc001tlp.3 + 13 1664 c.1442C>G c.(1441-1443)cCt>cGt p.P481R POLR3B_uc001tlq.3_Missense_Mutation_p.P423R NM_018082 NP_001154180 Q9NW08 RPC2_HUMAN Homo sapiens polymerase (RNA) III (DNA directed) polypeptide B (POLR3B), transcript variant 1, mRNA. 481 innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter nucleoplasm DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2) 57 ATGCTGTGTCCTTCGGACACT 0.527000 44 16 0 0 0.00074312 0 0 EIF2AK4 440275 broad.mit.edu 37 15 40259920 40259920 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr15:40259920C>T uc001zkm.1 + 8 1443 c.1393C>T c.(1393-1395)Cgt>Tgt p.R465C EIF2AK4_uc001zkl.3_Missense_Mutation_p.R465C|EIF2AK4_uc010bbj.1_Missense_Mutation_p.R194C NM_001013703 NP_001013725 Q9P2K8 E2AK4_HUMAN Homo sapiens eukaryotic translation initiation factor 2 alpha kinase 4 (EIF2AK4), mRNA. 465 Protein kinase 1. translation cytosolic ribosome ATP binding|aminoacyl-tRNA ligase activity|eukaryotic translation initiation factor 2alpha kinase activity|protein homodimerization activity p.R465C(2) NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1) 40 all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119) GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616) AACCCGAGTTCGTTTTAGTGA 0.498000 52 44 0 0 0.00361006 0 0 WFDC10B 280664 broad.mit.edu 37 20 44313538 44313538 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr20:44313538G>A uc002xpc.3 - 2 229 c.201C>T c.(199-201)ttC>ttT p.F67F WFDC10B_uc002xpb.3_Silent_p.F51F NM_172131 NP_742143 Q8IUB3 WF10B_HUMAN Homo sapiens WAP four-disulfide core domain 10B (WFDC10B), transcript variant 2, mRNA. 51 WAP. extracellular region peptidase inhibitor activity lung(2)|ovary(1)|stomach(1) 4 Myeloproliferative disorder(115;0.0122) CACACTTTTGGAAATATGAAC 0.463000 54 82 0 0 0.00361006 0 0 LEKR1 389170 broad.mit.edu 37 3 156710923 156710923 + Missense_Mutation SNP A T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr3:156710923A>T uc021xgh.1 + 8 1080 c.966A>T c.(964-966)aaA>aaT p.K322N LEKR1_uc003fba.1_Non-coding_Transcript NM_001004316 NP_001004316 D3DNK7 D3DNK7_HUMAN Homo sapiens leucine, glutamate and lysine rich 1 (LEKR1), transcript variant 1, mRNA. 38 breast(1)|large_intestine(5)|lung(3)|ovary(1)|skin(1) 11 LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465) AGATATATAAAGCATTACAGG 0.338000 68 44 0 0 0.0025221 0 0 SLC19A1 6573 broad.mit.edu 37 21 46951972 46951972 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr21:46951972G>A uc002zhl.2 - 2 433 c.280C>T c.(280-282)Ccg>Tcg p.P94S SLC19A1_uc010gpy.1_Missense_Mutation_p.P94S|SLC19A1_uc011aft.2_Missense_Mutation_p.P54S|SLC19A1_uc002zhm.2_Missense_Mutation_p.P94S|SLC19A1_uc010gpz.2_5'UTR NM_194255 NP_919231 P41440 S19A1_HUMAN Homo sapiens solute carrier family 19 (folate transporter), member 1 (SLC19A1), transcript variant 1, mRNA. 94 folic acid metabolic process integral to plasma membrane|membrane fraction folic acid binding|folic acid transporter activity|methotrexate transporter activity|reduced folate carrier activity endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|urinary_tract(1) 10 Colorectal(79;0.0569)|READ - Rectum adenocarcinoma(84;0.172) AGCAGCACCGGCGTGTAGCGC 0.647000 39 16 0 0 0.00074312 0 0 H6PD 9563 broad.mit.edu 37 1 9324630 9324630 + Missense_Mutation SNP T C C TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:9324630T>C uc001apt.3 + 4 2351 c.2078T>C c.(2077-2079)aTg>aCg p.M693T NM_004285 NP_004276 O95479 G6PE_HUMAN Homo sapiens hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase) (H6PD), mRNA. 693 6-phosphogluconolactonase. endoplasmic reticulum lumen 6-phosphogluconolactonase activity|NADP binding|glucose 1-dehydrogenase|glucose-6-phosphate dehydrogenase activity breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(1) 23 all_lung(157;0.23) all_epithelial(116;1.28e-19)|all_lung(118;5.22e-06)|Lung NSC(185;1.98e-05)|Renal(390;0.000147)|Breast(348;0.00109)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.88e-07)|COAD - Colon adenocarcinoma(227;7.47e-05)|Kidney(185;0.000244)|KIRC - Kidney renal clear cell carcinoma(229;0.000905)|STAD - Stomach adenocarcinoma(132;0.00176)|BRCA - Breast invasive adenocarcinoma(304;0.00183)|READ - Rectum adenocarcinoma(331;0.0419) NADH(DB00157) CTGCTGGGCATGGGTGCCGAC 0.677000 8 84 0 0 0.00361006 0 0 ARMC4 55130 broad.mit.edu 37 10 28272861 28272861 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr10:28272861G>A uc009xky.3 - 5 828 c.730C>T c.(730-732)Cgt>Tgt p.R244C ARMC4_uc010qds.2_5'Flank|ARMC4_uc010qdt.2_5'Flank|ARMC4_uc001itz.3_Missense_Mutation_p.R244C|ARMC4_uc010qdu.1_5'Flank NM_018076 NP_060546 Q5T2S8 ARMC4_HUMAN Homo sapiens armadillo repeat containing 4 (ARMC4), mRNA. 244 binding NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3) 75 ATTTCCCCACGAATTTGTCTC 0.403000 19 27 0 0 0.000878237 0 0 NRAP 4892 broad.mit.edu 37 10 115374691 115374691 + Silent SNP T C C TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr10:115374691T>C uc001lal.3 - 27 3257 c.3093A>G c.(3091-3093)gaA>gaG p.E1031E NRAP_uc009xyb.3_Intron|NRAP_uc001laj.3_Silent_p.E1031E|NRAP_uc001lak.3_Silent_p.E996E NM_198060 NP_932326 Q86VF7 NRAP_HUMAN Homo sapiens nebulin-related anchoring protein (NRAP), transcript variant 2, mRNA. 1031 fascia adherens|muscle tendon junction actin binding|muscle alpha-actinin binding|zinc ion binding autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 95 Colorectal(252;0.0233)|Breast(234;0.188) Epithelial(162;0.00392)|all cancers(201;0.00569) TGCTCCAGGATTCCTTATAAC 0.458000 6 39 0 0 0.0025221 0 0 SKIV2L 6499 broad.mit.edu 37 6 31930846 31930846 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr6:31930846C>T uc003nyn.1 + 12 1770 c.1381C>T c.(1381-1383)Ctt>Ttt p.L461F SKIV2L_uc011dou.1_Missense_Mutation_p.L303F|SKIV2L_uc011dov.1_Missense_Mutation_p.L268F NM_006929 NP_008860 Q15477 SKIV2_HUMAN Homo sapiens superkiller viralicidic activity 2-like (S. cerevisiae) (SKIV2L), mRNA. 461 Helicase ATP-binding. nucleus ATP binding|ATP-dependent RNA helicase activity|RNA binding|protein binding breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1) 4 CCCCAACGCCCTTGAGTTTGC 0.582000 193 164 0 0 0.00361006 0 0 DNAH8 1769 broad.mit.edu 37 6 38813486 38813486 + Nonsense_Mutation SNP C A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr6:38813486C>A uc021yzh.1 + 35 5091 c.4982C>A c.(4981-4983)tCg>tAg p.S1661* DNAH8_uc003ooe.2_Nonsense_Mutation_p.S1444* NM_001206927 NP_001193856 Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA. p.K1660N(1) NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4) 260 GGAACCGAATCGGGAGAAATT 0.398000 85 5 0.00198382 0.00571265 0.00198382 1 0 CSMD3 114788 broad.mit.edu 37 8 114326957 114326957 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr8:114326957G>A uc003ynu.3 - 1 403 c.244C>T c.(244-246)Cca>Tca p.P82S CSMD3_uc003ynt.3_Missense_Mutation_p.P42S|CSMD3_uc011lhx.2_Missense_Mutation_p.P82S|CSMD3_uc010mcx.1_Missense_Mutation_p.P82S|CSMD3_uc003ynx.4_Missense_Mutation_p.P82S NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA. 82 CUB 1. integral to membrane|plasma membrane p.P82S(2) breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 TATCCATATGGAAAACCAGGG 0.328000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 178 82 0 0 0.00361006 0 0 DNAH5 1767 broad.mit.edu 37 5 13931332 13931332 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr5:13931332C>T uc003jfd.2 - 1 121 c.79G>A c.(79-81)Gaa>Aaa p.E27K DNAH5_uc003jfe.1_Non-coding_Transcript NM_001369 NP_001360 Q8TE73 DYH5_HUMAN Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA. 27 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) CGCTTGGCTTCCTTCTCTCCC 0.393000 Kartagener syndrome 7 72 0 0 0.00361006 0 0 ADAM30 11085 broad.mit.edu 37 1 120438381 120438381 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:120438381C>T uc001eij.3 - 0 767 c.579G>A c.(577-579)agG>agA p.R193R NM_021794 NP_068566 Q9UKF2 ADA30_HUMAN Homo sapiens ADAM metallopeptidase domain 30 (ADAM30), mRNA. 193 proteolysis integral to membrane metalloendopeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2) 38 all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234) all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138) Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117) CAGGAAAGTCCCTTAGCCTCG 0.408000 549 173 0 0 0.00361006 0 0 SOWAHA 134548 broad.mit.edu 37 5 132150734 132150734 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr5:132150734C>T uc003kxw.3 + 0 1702 c.1421C>T c.(1420-1422)tCc>tTc p.S474F NM_175873 NP_787069 Q2M3V2 ANR43_HUMAN Homo sapiens sosondowah ankyrin repeat domain family member A (SOWAHA), mRNA. 474 ATCCTCAGTTCCACCACCAGT 0.637000 10 10 0 0 0.000442599 0 0 NUP133 55746 broad.mit.edu 37 1 229606485 229606486 + Missense_Mutation DNP GC CG CG TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:229606485_229606486GC>CG uc001htn.3 - 14 2009_2010 c.1917_1918GC>CG c.(1915-1920)ttgctc>ttCGtc p.639_640LL>FV NM_018230 NP_060700 Q8WUM0 NU133_HUMAN Homo sapiens nucleoporin 133kDa (NUP133), mRNA. 639 carbohydrate metabolic process|glucose transport|mRNA export from nucleus|mitotic prometaphase|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction Nup107-160 complex|condensed chromosome kinetochore|cytosol nucleocytoplasmic transporter activity|protein binding NS(1)|breast(7)|endometrium(1)|kidney(6)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(4) 56 Breast(184;0.104)|Ovarian(103;0.249) Prostate(94;0.167) TGCTCACAGAGCAACAGTCGAG 0.480000 53 14 0 0 6.4e-05 0 0 ANO2 57101 broad.mit.edu 37 12 5685149 5685149 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr12:5685149G>A uc001qnm.2 - 23 2544 c.2472C>T c.(2470-2472)atC>atT p.I824I NM_020373 NP_065106 Q9NQ90 ANO2_HUMAN Homo sapiens anoctamin 2 (ANO2), mRNA. 829 chloride channel complex|plasma membrane intracellular calcium activated chloride channel activity central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1) 58 CCAGGCGGGGGATAAAGTCGG 0.517000 9 7 0 0 0.00198382 0 0 AHNAK 79026 broad.mit.edu 37 11 62291668 62291668 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr11:62291668G>A uc001ntl.3 - 4 10521 c.10221C>T c.(10219-10221)ttC>ttT p.F3407F AHNAK_uc001ntk.1_Intron NM_001620 NP_001611 Q09666 AHNK_HUMAN Homo sapiens AHNAK nucleoprotein (AHNAK), transcript variant 1, mRNA. 3407 nervous system development nucleus protein binding NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 268 Melanoma(852;0.155) AAATACTCAGGAAAGGCATTT 0.388000 33 48 0 0 0.00361006 0 0 NBEA 26960 broad.mit.edu 37 13 35619500 35619500 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr13:35619500C>T uc021rid.1 + 3 1219 c.685C>T c.(685-687)Cct>Tct p.P229S NBEA_uc021ric.1_Missense_Mutation_p.P229S NM_015678 NP_056493 Q8NFP9 NBEA_HUMAN Homo sapiens neurobeachin (NBEA), transcript variant 1, mRNA. 229 cytosol|endomembrane system|plasma membrane|trans-Golgi network protein binding NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 108 Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207) all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199) GAGACACGGTCCTGATACTTT 0.333000 11 18 0 0 0.00188189 0 0 FAM169A 26049 broad.mit.edu 37 5 74130379 74130379 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr5:74130379C>T uc003kdm.3 - 4 405 c.362G>A c.(361-363)cGa>cAa p.R121Q FAM169A_uc010izm.3_Missense_Mutation_p.R121Q|FAM169A_uc003kdl.3_Intron NM_015566 NP_056381 Q9Y6X4 F169A_HUMAN Homo sapiens family with sequence similarity 169, member A (FAM169A), mRNA. 121 breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1) 27 ATAAATAATTCGATTCAGAAC 0.408000 22 18 0 0 0.00121646 0 0 TTN 7273 broad.mit.edu 37 2 179603052 179603052 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:179603052C>T uc021vsy.1 - 45 10621 c.10396G>A c.(10396-10398)Gaa>Aaa p.E3466K TTN_uc021vsz.1_Missense_Mutation_p.E4539K|TTN_uc021vta.1_Missense_Mutation_p.E4472K|TTN_uc021vtb.1_Missense_Mutation_p.E4347K|TTN_uc002umz.1_Missense_Mutation_p.E127K NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 4393 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) AGTGCTACTTCCAGGGGTTCG 0.468000 10 18 0 0 0.00152264 0 0 CCND3 896 broad.mit.edu 37 6 41904341 41904341 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr6:41904341C>T uc003orn.3 - 3 832 c.667G>A c.(667-669)Gat>Aat p.D223N CCND3_uc003orp.3_Missense_Mutation_p.D142N|CCND3_uc011duk.2_Missense_Mutation_p.D27N|CCND3_uc003orm.3_Missense_Mutation_p.D173N|CCND3_uc003oro.3_Missense_Mutation_p.D151N NM_001760 NP_001129489 P30281 CCND3_HUMAN Homo sapiens cyclin D3 (CCND3), transcript variant 2, mRNA. 223 cell division|positive regulation of cyclin-dependent protein kinase activity|positive regulation of protein phosphorylation cyclin-dependent protein kinase holoenzyme complex|cytoplasm|membrane|nucleus protein kinase binding endometrium(2)|haematopoietic_and_lymphoid_tissue(13)|kidney(1)|large_intestine(1)|lung(2)|skin(1) 20 Colorectal(47;0.121) Epithelial(12;0.000178)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152) GTGAGCTCATCCCCGGACATG 0.582000 T IGH@ MM OREG0017437 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 36 20 0 0 0.00121646 0 0 PLXDC1 57125 broad.mit.edu 37 17 37234198 37234198 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr17:37234198G>A uc002hrg.2 - 10 1366 c.1154C>T c.(1153-1155)tCc>tTc p.S385F LOC100131347_uc002hre.1_Intron|LOC100131347_uc002hrf.1_Intron|PLXDC1_uc010cvr.1_Missense_Mutation_p.S93F|PLXDC1_uc002hrh.2_Non-coding_Transcript|PLXDC1_uc002hri.2_Non-coding_Transcript|PLXDC1_uc002hrj.1_Non-coding_Transcript|PLXDC1_uc002hrk.1_Non-coding_Transcript NM_020405 NP_065138 Q8IUK5 PXDC1_HUMAN Homo sapiens plexin domain containing 1 (PLXDC1), mRNA. 385 angiogenesis cytoplasm|extracellular region|integral to membrane|tight junction kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 23 GAAGAGGGAGGAGGAGGTAGT 0.607000 5 43 0 0 0.00361006 0 0 DGCR8 54487 broad.mit.edu 37 22 20094149 20094149 + Missense_Mutation SNP G C C TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr22:20094149G>C uc002zri.3 + 10 2353 c.1924G>C c.(1924-1926)Gaa>Caa p.E642Q DGCR8_uc010grz.3_Missense_Mutation_p.E609Q|DGCR8_uc002zrj.3_Missense_Mutation_p.E285Q NM_022720 NP_073557 Q8WYQ5 DGCR8_HUMAN Homo sapiens DiGeorge syndrome critical region gene 8 (DGCR8), transcript variant 1, mRNA. 642 DRBM 2.|Necessary for heme-binding and pri-miRNA processing.|Necessary for interaction with DROSHA. primary miRNA processing cytoplasm|microtubule cytoskeleton|nucleolus|nucleoplasm double-stranded RNA binding|metal ion binding|protein binding NS(2)|breast(1)|endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 22 Colorectal(54;0.0993) TATCAAGTTTGAAGTGGTTCC 0.537000 45 24 0 0 0.000720815 0 0 CYP4F12 66002 broad.mit.edu 37 19 15784509 15784509 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:15784509G>A uc002nbl.3 + 1 289 c.170G>A c.(169-171)cGg>cAg p.R57Q CYP4F12_uc010xoo.2_Missense_Mutation_p.R57Q|CYP4F12_uc010xop.2_Missense_Mutation_p.R57Q NM_023944 NP_076433 Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 12 (CYP4F12), mRNA. NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 41 Acute lymphoblastic leukemia(2;0.0367) CCCCCAAAACGGAACTGGTTT 0.587000 40 73 0 0 0.00361006 0 0 POU5F1 5460 broad.mit.edu 37 6 31138066 31138066 + RNA SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr6:31138066G>A uc011dng.1 + 0 c.74G>A POU5F1_uc003nsv.3_Missense_Mutation_p.S111F Q01860 PO5F1_HUMAN Homo sapiens partial mRNA for POU class 5 homeobox 1 (POU5F1 gene), clone ARO0003057_AS. BMP signaling pathway involved in heart induction|anatomical structure morphogenesis|blastocyst development|cardiac cell fate determination|cell fate commitment involved in formation of primary germ layers|mRNA transcription from RNA polymerase II promoter|negative regulation of gene silencing by miRNA|positive regulation of SMAD protein import into nucleus|positive regulation of catenin import into nucleus|positive regulation of transcription from RNA polymerase II promoter|regulation of asymmetric cell division|regulation of heart induction by regulation of canonical Wnt receptor signaling pathway|regulation of methylation-dependent chromatin silencing|response to wounding|somatic stem cell maintenance cytosol|nucleoplasm|transcription factor complex miRNA binding|sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|ubiquitin protein ligase binding EWSR1/POU5F1(10) breast(1)|large_intestine(2)|lung(3)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 13 GGGCTCCGGGGAGGCCCCATC 0.662000 T EWSR1 sarcoma 25 21 0 0 0.00152264 0 0 IRF6 3664 broad.mit.edu 37 1 209964072 209964072 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:209964072G>A uc001hhq.2 - 6 1132 c.828C>T c.(826-828)ttC>ttT p.F276F IRF6_uc010psm.2_Silent_p.F181F NM_006147 NP_001193625 O14896 IRF6_HUMAN Homo sapiens interferon regulatory factor 6 (IRF6), transcript variant 1, mRNA. 276 cell cycle arrest|interferon-gamma-mediated signaling pathway|mammary gland epithelial cell differentiation|negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|type I interferon-mediated signaling pathway cytoplasm|nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity cervix(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4) 28 OV - Ovarian serous cystadenocarcinoma(81;0.0351) CAGGACCTGGGAATTTGACCT 0.567000 HNSCC(57;0.16) 31 35 0 0 0.000814825 0 0 MADD 8567 broad.mit.edu 37 11 47330884 47330884 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr11:47330884C>T uc001ner.1 + 26 4175 c.3984C>T c.(3982-3984)ttC>ttT p.F1328F MADD_uc001neq.2_Silent_p.F1269F|MADD_uc001nev.1_Silent_p.F1226F|MADD_uc001nes.1_Silent_p.F1246F|MADD_uc001net.1_Silent_p.F1289F|MADD_uc009yln.1_Silent_p.F1222F|MADD_uc001neu.1_Silent_p.F1226F|MADD_uc001nez.2_Silent_p.F1225F|MADD_uc001new.2_Silent_p.F1268F|MADD_uc001nex.2_Silent_p.F1328F|MADD_uc009ylo.3_Silent_p.F242F NM_003682 NP_003673 Q8WXG6 MADD_HUMAN Homo sapiens MAP-kinase activating death domain (MADD), transcript variant 4, mRNA. 1328 activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle cytoplasm|integral to membrane|plasma membrane Rab guanyl-nucleotide exchange factor activity|death receptor binding|protein kinase activator activity breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2) 84 Lung(87;0.182) AAGATGCCTTCTTAGATGCTG 0.453000 22 53 0 0 0.00361006 0 0 LHX9 56956 broad.mit.edu 37 1 197889293 197889293 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:197889293G>A uc001guk.1 + 1 803 c.366G>A c.(364-366)gaG>gaA p.E122E LHX9_uc001gui.1_Silent_p.E113E NM_020204 NP_064589 Q9NQ69 LHX9_HUMAN Homo sapiens LIM homeobox 9 (LHX9), transcript variant 1, mRNA. 122 LIM zinc-binding 1. motor axon guidance|negative regulation of transcription, DNA-dependent nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding endometrium(8)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|skin(1)|stomach(1) 35 ACTGCAAGGAGGATTACTACA 0.577000 84 27 0 0 0.0024448 0 0 FBN2 2201 broad.mit.edu 37 5 127616001 127616001 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr5:127616001C>T uc003kuu.3 - 55 7460 c.7021G>A c.(7021-7023)Gaa>Aaa p.E2341K NM_001999 NP_001990 P35556 FBN2_HUMAN Homo sapiens fibrillin 2 (FBN2), mRNA. 2341 EGF-like 40; calcium-binding. bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation microfibril calcium ion binding|extracellular matrix structural constituent NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 197 all_cancers(142;0.0216)|Prostate(80;0.0551) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146) GTCCTGCATTCATTTTCATCT 0.318000 41 14 0 0 0.00316338 0 0 CPAMD8 27151 broad.mit.edu 37 19 17039796 17039796 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:17039796C>T uc002nfb.3 - 23 3273 c.3241G>A c.(3241-3243)Gaa>Aaa p.E1081K NM_015692 NP_056507 Q8IZJ3 CPMD8_HUMAN Homo sapiens C3 and PZP-like, alpha-2-macroglobulin domain containing 8 (CPAMD8), mRNA. 1034 extracellular space|plasma membrane serine-type endopeptidase inhibitor activity breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5) 82 GTTCTGAATTCATCCCAGGAG 0.562000 39 17 0 0 0.00121646 0 0 C20orf118 140711 broad.mit.edu 37 20 35507473 35507473 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr20:35507473C>T uc002xgg.1 + 2 227 c.219C>T c.(217-219)acC>acT p.T73T C20orf118_uc021wcz.1_Silent_p.T73T NM_080628 NP_542195 A0PJX2 CT118_HUMAN Homo sapiens chromosome 20 open reading frame 118 (C20orf118), mRNA. 73 p.T73T(2) kidney(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 9 Myeloproliferative disorder(115;0.00874) CAAGAGTCACCGGCCATCCCT 0.632000 131 37 0 0 0.0025221 0 0 LAMB1 3912 broad.mit.edu 37 7 107601006 107601006 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr7:107601006G>A uc003vev.2 - 15 2431 c.2270C>T c.(2269-2271)aCc>aTc p.T757I LAMB1_uc003vew.2_Missense_Mutation_p.T733I|LAMB1_uc003vex.3_Missense_Mutation_p.T733I NM_002291 NP_002282 P07942 LAMB1_HUMAN Homo sapiens laminin, beta 1 (LAMB1), mRNA. 733 Laminin IV type B. axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm extracellular matrix structural constituent NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3) 82 Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) TCTCTGAAAGGTTTCCCAGGC 0.458000 88 35 0 0 0.000814825 0 0 CA8 767 broad.mit.edu 37 8 61178606 61178606 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr8:61178606G>A uc003xtz.1 - 2 543 c.295C>T c.(295-297)Ctt>Ttt p.L99F CA8_uc003xua.1_Missense_Mutation_p.L99F|CA8_uc003xub.3_Missense_Mutation_p.L99F NM_004056 NP_004047 P35219 CAH8_HUMAN Homo sapiens carbonic anhydrase VIII (CA8), mRNA. 99 one-carbon metabolic process carbonate dehydratase activity|zinc ion binding endometrium(2)|large_intestine(5)|lung(6)|prostate(2)|skin(1) 16 all_cancers(86;0.172)|all_epithelial(80;0.0383)|all_lung(136;0.0413)|Lung NSC(129;0.0474) CCTCCCGAAAGAACTGAAAAA 0.393000 23 14 0 0 0.000422831 0 0 FAM171A1 221061 broad.mit.edu 37 10 15317887 15317887 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr10:15317887C>T uc001iob.3 - 2 392 c.385G>A c.(385-387)Gaa>Aaa p.E129K NM_001010924 NP_001010924 Q5VUB5 F1711_HUMAN Homo sapiens family with sequence similarity 171, member A1 (FAM171A1), mRNA. 129 integral to membrane breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 52 ACGACATCTTCATATACCATT 0.338000 65 18 0 0 0.00152264 0 0 RAP1GAP2 23108 broad.mit.edu 37 17 2901655 2901655 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr17:2901655G>A uc010ckd.3 + 13 1275 c.1185G>A c.(1183-1185)gaG>gaA p.E395E RAP1GAP2_uc010cke.3_Silent_p.E380E NM_015085 NP_055900 Q684P5 RPGP2_HUMAN Homo sapiens RAP1 GTPase activating protein 2 (RAP1GAP2), transcript variant 1, mRNA. 395 Rap-GAP. regulation of small GTPase mediated signal transduction centrosome|cytosol|perinuclear region of cytoplasm GTPase activator activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1) 11 CAGGCACAGAGACCCCATCCT 0.537000 9 133 0 0 0.00361006 0 0 TAS2R41 259287 broad.mit.edu 37 7 143175679 143175679 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr7:143175679C>T uc003wdc.1 + 0 714 c.714C>T c.(712-714)tcC>tcT p.S238S LOC285965_uc003wda.3_Intron NM_176883 NP_795364 P59536 T2R41_HUMAN Homo sapiens taste receptor, type 2, member 41 (TAS2R41), mRNA. 238 sensory perception of taste integral to membrane G-protein coupled receptor activity endometrium(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(2)|skin(1) 18 Melanoma(164;0.15) CCCTCATCTCCTTCCTCATTC 0.507000 77 46 0 0 0.00361006 0 0 DOPEY2 9980 broad.mit.edu 37 21 37660349 37660349 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr21:37660349C>T uc002yvg.3 + 32 6277 c.6198C>T c.(6196-6198)tcC>tcT p.S2066S DOPEY2_uc011aeb.2_Silent_p.S2015S NM_005128 NP_005119 Q9Y3R5 DOP2_HUMAN Homo sapiens dopey family member 2 (DOPEY2), mRNA. 2066 Golgi to endosome transport|endoplasmic reticulum organization|multicellular organismal development|protein transport Golgi membrane autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 GACAGACATCCATAGTTGCTG 0.378000 74 57 0 0 0.00361006 0 0 MGAM 8972 broad.mit.edu 37 7 141763352 141763352 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr7:141763352G>A uc003vwy.3 + 35 4365 c.4311G>A c.(4309-4311)agG>agA p.R1437R NM_004668 NP_004659 O43451 MGA_HUMAN Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA. 1437 Glucoamylase. polysaccharide digestion|starch catabolic process apical plasma membrane|integral to membrane carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2) 13 Melanoma(164;0.0272) Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878) CAGGCTGCAGGGACGCCTCTC 0.502000 26 6 0 0 0.00307968 0 0 SLC13A1 6561 broad.mit.edu 37 7 122787360 122787360 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr7:122787360G>A uc003vkm.3 - 6 690 c.665C>T c.(664-666)tCa>tTa p.S222L SLC13A1_uc010lks.3_Missense_Mutation_p.S98L NM_022444 NP_071889 Q9BZW2 S13A1_HUMAN Homo sapiens solute carrier family 13 (sodium/sulfate symporters), member 1 (SLC13A1), mRNA. 222 integral to membrane|plasma membrane sodium:sulfate symporter activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 45 Succinic acid(DB00139) TCTCATGCCTGAGTTCTGTTC 0.418000 21 10 0 0 0.00136819 0 0 PCLO 27445 broad.mit.edu 37 7 82544905 82544905 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr7:82544905G>A uc003uhx.2 - 6 12686 c.12397C>T c.(12397-12399)Cgt>Tgt p.R4133C PCLO_uc003uhv.2_Missense_Mutation_p.R4133C|PCLO_uc010lec.3_Missense_Mutation_p.R1098C NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA. 4064 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 GTCCCTCTACGAAATTCCTGT 0.408000 30 93 0 0 0.00361006 0 0 MAVS 57506 broad.mit.edu 37 20 3844958 3844958 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr20:3844958C>T uc002wjw.4 + 5 853 c.681C>T c.(679-681)ttC>ttT p.F227F MAVS_uc002wjx.4_Silent_p.F86F|MAVS_uc002wjy.4_5'UTR NM_020746 NP_001193420 Q7Z434 MAVS_HUMAN Homo sapiens mitochondrial antiviral signaling protein (MAVS), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 227 activation of innate immune response|cellular response to exogenous dsRNA|defense response to bacterium|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of IP-10 production|positive regulation of chemokine (C-C motif) ligand 5 production|positive regulation of defense response to virus by host|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interleukin-8 production|positive regulation of protein import into nucleus, translocation|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of type I interferon-mediated signaling pathway|response to virus integral to membrane|mitochondrial outer membrane CARD domain binding|protein kinase binding|signal transducer activity autonomic_ganglia(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1) 14 CTGTCTCCTTCCAGCCCCTGG 0.607000 88 37 0 0 0.00148497 0 0 FLJ43860 389690 broad.mit.edu 37 8 142486025 142486025 + Splice_Site SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr8:142486025C>T uc003ywi.2 - 13 1749 c.1668_splice c.e13+1 p.Q556_splice FLJ43860_uc011ljs.1_Intron|FLJ43860_uc010meu.1_Intron NM_207414 NP_997297 Q6ZUA9 Q6ZUA9_HUMAN Homo sapiens FLJ43860 protein (FLJ43860), mRNA. 556 binding all_cancers(97;7.79e-15)|all_epithelial(106;4.52e-13)|Lung NSC(106;2.07e-05)|all_lung(105;2.89e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0493) CACAGCAAACCTGTAGGTGCT 0.577000 18 6 0 0 0.00116845 0 0 ZNF658 26149 broad.mit.edu 37 9 40773090 40773090 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr9:40773090G>A uc004abs.2 - 4 2337 c.2185C>T c.(2185-2187)Ctt>Ttt p.L729F ZNF658_uc010mmm.2_Intron|ZNF658_uc010mmn.1_Missense_Mutation_p.L729F NM_033160 NP_149350 Q5TYW1 ZN658_HUMAN Homo sapiens zinc finger protein 658 (ZNF658), mRNA. 729 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2) 46 GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681) TGTGCTCTAAGGGCTGAATTA 0.418000 17 113 0 0 0.00361006 0 0 EGR4 1961 broad.mit.edu 37 2 73518712 73518712 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:73518712C>T uc010yrj.2 - 1 1718 c.1643G>A c.(1642-1644)cGc>cAc p.R548H EGR4_uc010yrk.1_Missense_Mutation_p.R547H NM_001965 NP_001956 B7ZKU3 B7ZKU3_HUMAN Homo sapiens early growth response 4 (EGR4), mRNA. 444 intracellular nucleic acid binding|zinc ion binding breast(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 11 CGCGAAGCGGCGGCCGCACAC 0.662000 29 20 0 0 0.00229938 0 0 NR4A1 3164 broad.mit.edu 37 12 52448684 52448684 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr12:52448684C>T uc001rzs.3 + 2 891 c.572C>T c.(571-573)tCc>tTc p.S191F NR4A1_uc010sno.2_Missense_Mutation_p.S204F|NR4A1_uc001rzr.2_Missense_Mutation_p.S191F|NR4A1_uc009zmb.2_Missense_Mutation_p.S191F|NR4A1_uc001rzt.3_Missense_Mutation_p.S191F|NR4A1_uc009zmc.3_5'Flank NM_002135 NP_775180 P22736 NR4A1_HUMAN Homo sapiens nuclear receptor subfamily 4, group A, member 1 (NR4A1), transcript variant 1, mRNA. 191 nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor steroid hormone receptor activity|zinc ion binding endometrium(2)|kidney(2)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2) 16 BRCA - Breast invasive adenocarcinoma(357;0.0967) GCCTTCTTTTCCTTCAGTCCT 0.657000 76 41 0 0 0.00170553 0 0 RERGL 79785 broad.mit.edu 37 12 18234351 18234351 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr12:18234351C>T uc001rdq.3 - 5 586 c.392G>A c.(391-393)cGa>cAa p.R131Q NM_024730 NP_079006 Q9H628 RERGL_HUMAN Homo sapiens RERG/RAS-like (RERGL), mRNA. 131 Small GTPase-like. signal transduction membrane GTP binding|GTPase activity endometrium(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|urinary_tract(1) 17 GCCAACCTCTCGCACATGACA 0.448000 40 13 0 0 0.00136819 0 0 CUL9 23113 broad.mit.edu 37 6 43184064 43184064 + Silent SNP T A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr6:43184064T>A uc003ouk.3 + 30 6180 c.6105T>A c.(6103-6105)gcT>gcA p.A2035A CUL9_uc003oul.3_Silent_p.A2007A|CUL9_uc010jyk.3_Silent_p.A1187A|CUL9_uc003oun.3_5'UTR NM_015089 NP_055904 Q8IWT3 CUL9_HUMAN Homo sapiens cullin 9 (CUL9), mRNA. 2035 ubiquitin-dependent protein catabolic process cullin-RING ubiquitin ligase complex|cytoplasm ATP binding|ubiquitin protein ligase binding|zinc ion binding p.G2034G(1) breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4) 92 ACTGGGGCGCTGAACAGCTGC 0.602000 22 12 0 0 0.00136819 0 0 LPAL2 80350 broad.mit.edu 37 6 160908435 160908435 + RNA SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr6:160908435G>A uc003qtj.2 - 3 c.538C>T LPAL2_uc011efy.2_Non-coding_Transcript Homo sapiens lipoprotein, Lp(a)-like 2, pseudogene (LPAL2), transcript variant 2, non-coding RNA. large_intestine(1)|lung(4) 5 Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.214) OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06) CGAACAATCCGGATTCCTGCA 0.493000 4 18 0 0 0.000958276 0 0 TRPC4 7223 broad.mit.edu 37 13 38237701 38237701 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr13:38237701G>A uc010abx.3 - 5 1775 c.1540C>T c.(1540-1542)Ctg>Ttg p.L514L TRPC4_uc010abv.3_Silent_p.L94L|TRPC4_uc001uwt.3_Silent_p.L514L|TRPC4_uc001uws.3_Silent_p.L514L|TRPC4_uc010tey.2_Silent_p.L514L|TRPC4_uc010abw.3_Silent_p.L341L|TRPC4_uc010aby.3_Silent_p.L514L NM_003306 NP_003297 Q9UBN4 TRPC4_HUMAN Homo sapiens transient receptor potential cation channel, subfamily C, member 4 (TRPC4), transcript variant epsilon, mRNA. 514 axon guidance|calcium ion import basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton beta-catenin binding|cadherin binding|store-operated calcium channel activity NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2) 83 all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126) AAAATGTCCAGGAGCATTCTT 0.388000 11 25 0 0 0.00395357 0 0 SNTG2 54221 broad.mit.edu 37 2 1094073 1094073 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:1094073C>T uc002qwq.3 + 3 431 c.302C>T c.(301-303)tCa>tTa p.S101L SNTG2_uc002qwp.3_Non-coding_Transcript|SNTG2_uc010ewi.3_Intron NM_018968 NP_061841 Q9NY99 SNTG2_HUMAN Homo sapiens syntrophin, gamma 2 (SNTG2), mRNA. 101 PDZ. central nervous system development cytoplasm|cytoskeleton|sarcolemma|syntrophin complex PDZ domain binding|actin binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 52 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.00469) all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173) GTCGTCATATCAAAAATATTC 0.378000 48 21 0 0 0.00278032 0 0 RILP 83547 broad.mit.edu 37 17 1551726 1551726 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr17:1551726C>T uc002ftd.3 - 4 1033 c.739G>A c.(739-741)Gag>Aag p.E247K SCARF1_uc002fsy.1_5'Flank|SCARF1_uc002fsz.1_5'Flank|SCARF1_uc002fta.1_5'Flank|SCARF1_uc010cjv.1_5'Flank NM_031430 NP_113618 Q96NA2 RILP_HUMAN Homo sapiens Rab interacting lysosomal protein (RILP), mRNA. 247 RILP-like. endosome to lysosome transport|protein transport late endosome membrane|lysosomal membrane|phagocytic vesicle membrane Rab GTPase binding endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(4) 15 UCEC - Uterine corpus endometrioid carcinoma (25;0.0822) TGCTCAAACTCCTCCCGACTG 0.632000 7 111 0 0 0.00361006 0 0 RAPGEF5 9771 broad.mit.edu 37 7 22259571 22259571 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr7:22259571C>T uc003svg.3 - 8 764 c.451G>A c.(451-453)Gga>Aga p.G151R NM_012294 NP_036426 Q92565 RPGF5_HUMAN Homo sapiens Rap guanine nucleotide exchange factor (GEF) 5 (RAPGEF5), mRNA. 0 N-terminal Ras-GEF. nervous system development|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction nucleus GTP-dependent protein binding|Rap guanyl-nucleotide exchange factor activity p.V151F(1) central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)|ovary(1) 6 TCAATTCGTCCGATTTCATCT 0.438000 28 16 0 0 0.000422831 0 0 ZNF510 22869 broad.mit.edu 37 9 99521932 99521932 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr9:99521932G>A uc004awn.1 - 5 1369 c.1180C>T c.(1180-1182)Cgc>Tgc p.R394C ZNF510_uc004awo.1_Missense_Mutation_p.R394C NM_014930 NP_055745 Q9Y2H8 ZN510_HUMAN Homo sapiens zinc finger protein 510 (ZNF510), mRNA. 394 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|stomach(1)|urinary_tract(1) 21 Acute lymphoblastic leukemia(62;0.0527) CTTCTTCGGCGAACTCTGTGA 0.398000 17 91 0 0 0.00361006 0 0 AMIGO1 57463 broad.mit.edu 37 1 110050499 110050499 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:110050499C>T uc021org.1 - 0 1036 c.1036G>A c.(1036-1038)Gag>Aag p.E346K AMIGO1_uc001dxx.4_Missense_Mutation_p.E346K NM_020703 NP_065754 Q86WK6 AMGO1_HUMAN Homo sapiens adhesion molecule with Ig-like domain 1 (AMIGO1), mRNA. 346 Ig-like C2-type. axonal fasciculation|heterophilic cell-cell adhesion|homophilic cell adhesion|myelination|positive regulation of axonogenesis axon|integral to membrane autonomic_ganglia(1)|breast(2)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244) Colorectal(144;0.0129)|Lung(183;0.0182)|Epithelial(280;0.046)|all cancers(265;0.0492)|READ - Rectum adenocarcinoma(129;0.0689)|LUSC - Lung squamous cell carcinoma(189;0.227) TTGAAAGTCTCTCCCATGGCA 0.512000 28 53 0 0 0.00361006 0 0 RGS9BP 388531 broad.mit.edu 37 19 33167846 33167846 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:33167846C>T uc002ntp.1 + 0 1534 c.677C>T c.(676-678)gCc>gTc p.A226V ANKRD27_uc002ntn.1_5'Flank|ANKRD27_uc002nto.1_5'Flank NM_207391 NP_997274 Q6ZS82 R9BP_HUMAN Homo sapiens regulator of G protein signaling 9 binding protein (RGS9BP), mRNA. 226 negative regulation of signal transduction integral to membrane central_nervous_system(1)|lung(2) 3 Esophageal squamous(110;0.137) GCGGCTGTGGCCCTAGCCGTG 0.706000 8 12 0 0 0.00316338 0 0 PCSK5 5125 broad.mit.edu 37 9 78804657 78804657 + Missense_Mutation SNP A G G TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr9:78804657A>G uc004akc.2 + 19 3159 c.2621A>G c.(2620-2622)aAg>aGg p.K874R PCSK5_uc004ajz.3_Missense_Mutation_p.K874R|PCSK5_uc004aka.3_Non-coding_Transcript|PCSK5_uc004akb.3_Missense_Mutation_p.K148R NM_001190482 NP_001177411 Q92824 PCSK5_HUMAN Homo sapiens proprotein convertase subtilisin/kexin type 5 (PCSK5), transcript variant 1, mRNA. 874 PLAC. anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release Golgi lumen|extracellular space|stored secretory granule peptide binding|serine-type endopeptidase activity p.C873F(1) NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 55 GCCATTTGCAAGGATGGTGAG 0.408000 5 34 0 0 0.00283554 0 0 TNXB 7148 broad.mit.edu 37 6 32032812 32032812 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr6:32032812G>A uc003nzl.2 - 18 6829 c.6627C>T c.(6625-6627)tcC>tcT p.S2209S NM_019105 NP_061978 P22105 TENX_HUMAN Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA. 2281 Fibronectin type-III 14. 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 AGAGGCTGAGGGAGTCGGAGG 0.597000 241 65 0 0 0.00361006 0 0 PTPN5 84867 broad.mit.edu 37 11 18759452 18759452 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr11:18759452C>T uc001mpd.3 - 8 1406 c.975G>A c.(973-975)aaG>aaA p.K325K PTPN5_uc001mpb.3_Silent_p.K293K|PTPN5_uc001mpc.3_Silent_p.K325K|PTPN5_uc010rdj.2_Silent_p.K269K|PTPN5_uc001mpf.3_Silent_p.K301K|PTPN5_uc001mpe.3_Silent_p.K293K|PTPN5_uc010rdk.2_Silent_p.K270K NM_006906 NP_116170 P54829 PTN5_HUMAN Homo sapiens protein tyrosine phosphatase, non-receptor type 5 (striatum-enriched) (PTPN5), transcript variant 1, mRNA. 325 Tyrosine-protein phosphatase. integral to membrane phosphotyrosine binding|protein tyrosine phosphatase activity breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(4) 27 TGTACCGGTTCTTCCGCACCA 0.582000 20 26 0 0 0.000878237 0 0 ZNF585B 92285 broad.mit.edu 37 19 37676170 37676170 + Nonsense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:37676170G>A uc002ofq.3 - 4 2521 c.2269C>T c.(2269-2271)Cag>Tag p.Q757* ZNF585B_uc002ofr.1_Nonsense_Mutation_p.Q571* NM_152279 NP_689492 Q52M93 Z585B_HUMAN Homo sapiens zinc finger protein 585B (ZNF585B), mRNA. 757 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding NS(1)|breast(3)|endometrium(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1) 29 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) ACTGATTTCTGAACGAAGCCT 0.483000 38 25 0 0 0.00178596 0 0 PCDHGC5 56097 broad.mit.edu 37 5 140746171 140746171 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr5:140746171C>T uc003lju.2 + 0 2274 c.2274C>T c.(2272-2274)tcC>tcT p.S758S PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc011das.2_Silent_p.S758S NM_018918 NP_061741 Q9Y5F6 PCDGM_HUMAN Homo sapiens protocadherin gamma subfamily A, 5 (PCDHGA5), transcript variant 1, mRNA. 763 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 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) ACGAGGTCTCCCTCACCGCGG 0.597000 46 65 0 0 0.00361006 0 0 SUPT6H 6830 broad.mit.edu 37 17 27015132 27015132 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr17:27015132G>A uc010crt.3 + 24 3222 c.3030G>A c.(3028-3030)cgG>cgA p.R1010R SUPT6H_uc002hby.3_Silent_p.R1010R|SUPT6H_uc002hbz.1_5'Flank NM_003170 NP_003161 Q7KZ85 SPT6H_HUMAN Homo sapiens suppressor of Ty 6 homolog (S. cerevisiae) (SUPT6H), mRNA. 1010 chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter nucleus RNA binding|hydrolase activity, acting on ester bonds|sequence-specific DNA binding transcription factor activity NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 Lung NSC(42;0.00431) ACAACACCCGGCTCGAGAGCC 0.592000 3 48 0 0 0.00361006 0 0 FLG 2312 broad.mit.edu 37 1 152285860 152285860 + Missense_Mutation SNP C T T rs145828067 TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:152285860C>T uc001ezu.1 - 2 1538 c.1502G>A c.(1501-1503)cGa>cAa p.R501Q AK056431_uc001ezv.3_5'Flank NM_002016 NP_002007 P20930 FILA_HUMAN Homo sapiens filaggrin (FLG), mRNA. 501 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity p.R501Q(2) autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GGAGCTGTCTCGTGCCTGCTC 0.612000 Ichthyosis 88 150 0 0 0.00361006 0 0 ANKRD30A 91074 broad.mit.edu 37 10 37441020 37441020 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr10:37441020G>A uc021ppc.1 + 11 1609 c.1510G>A c.(1510-1512)Gac>Aac p.D504N ANKRD30A_uc001iza.1_Missense_Mutation_p.D504N NM_052997 NP_443723 Q9BXX3 AN30A_HUMAN Homo sapiens ankyrin repeat domain 30A (ANKRD30A), mRNA. 560 nucleus DNA binding|sequence-specific DNA binding transcription factor activity p.K503N(1) NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3) 158 CAAACAAAAGGACTATGAAGA 0.299000 58 14 0 0 0.000422831 0 0 NTF4 4909 broad.mit.edu 37 19 49565005 49565005 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:49565005C>T uc002pmf.4 - 1 386 c.250G>A c.(250-252)Gaa>Aaa p.E84K NTF4_uc010yah.1_Intron|NTF4_uc021uxg.1_Missense_Mutation_p.E84K NM_006179 NP_006170 P34130 NTF4_HUMAN Homo sapiens neurotrophin 4 (NTF4), mRNA. 84 E -> K (in a patient with primary open- angle glaucoma; uncertain pathological significance). adult locomotory behavior|epidermis development|ganglion mother cell fate determination|long-term memory|sensory organ boundary specification endoplasmic reticulum lumen|extracellular region growth factor activity kidney(1)|lung(4)|upper_aerodigestive_tract(1) 6 all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_epithelial(76;3.83e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) all cancers(93;0.000371)|OV - Ovarian serous cystadenocarcinoma(262;0.000503)|GBM - Glioblastoma multiforme(486;0.00518)|Epithelial(262;0.0427) GGTGCAGTTTCGCTCACCCCA 0.701000 6 4 0 0 0.00116845 0 0 MNDA 4332 broad.mit.edu 37 1 158819007 158819007 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:158819007G>A uc001fsz.1 + 6 1404 c.1204G>A c.(1204-1206)Gga>Aga p.G402R NM_002432 NP_002423 P41218 MNDA_HUMAN Homo sapiens myeloid cell nuclear differentiation antigen (MNDA), mRNA. 402 B cell receptor signaling pathway|cellular defense response|negative regulation of B cell proliferation|positive regulation of apoptosis|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent cytoplasm|nucleus DNA binding p.G402fs*3(2) NS(2)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(26)|ovary(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 65 all_hematologic(112;0.0378) AAACAAGGAAGGACCAATGAA 0.318000 19 22 0 0 0.00106085 0 0 ITGA4 3676 broad.mit.edu 37 2 182392056 182392056 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:182392056C>T uc002unu.3 + 21 3135 c.2372C>T c.(2371-2373)tCa>tTa p.S791L ITGA4_uc010frj.1_Missense_Mutation_p.S273L|ITGA4_uc002unv.3_Missense_Mutation_p.S36L NM_000885 NP_000876 P13612 ITA4_HUMAN Homo sapiens integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor) (ITGA4), mRNA. 791 blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response integrin complex identical protein binding|receptor activity breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 58 OV - Ovarian serous cystadenocarcinoma(117;0.0593) Natalizumab(DB00108) GTGTATGGATCAAATGATGAA 0.294000 24 21 0 0 0.000720815 0 0 BHMT2 23743 broad.mit.edu 37 5 78379595 78379596 + Missense_Mutation DNP GG AA AA TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr5:78379595_78379596GG>AA uc003kft.3 + 6 985_986 c.926_927GG>AA c.(925-927)agg>aAA p.R309K BHMT2_uc011cth.2_Missense_Mutation_p.R245K NM_017614 NP_060084 Q9H2M3 BHMT2_HUMAN Homo sapiens betaine--homocysteine S-methyltransferase 2 (BHMT2), transcript variant 1, mRNA. 309 methionine biosynthetic process cytoplasm betaine-homocysteine S-methyltransferase activity|homocysteine S-methyltransferase activity|zinc ion binding endometrium(2)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|urinary_tract(1) 15 all_lung(232;0.00063)|Lung NSC(167;0.00171)|Ovarian(174;0.0261)|Prostate(461;0.191) OV - Ovarian serous cystadenocarcinoma(54;2.09e-45)|Epithelial(54;9.3e-41)|all cancers(79;4.09e-36) L-Methionine(DB00134) GCCCCAGAAAGGGGCTTTTTGC 0.530000 24 20 0 0 6.4e-05 0 0 SLC6A5 9152 broad.mit.edu 37 11 20648277 20648277 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr11:20648277C>T uc001mqd.3 + 7 1557 c.1284C>T c.(1282-1284)ttC>ttT p.F428F SLC6A5_uc009yic.3_Silent_p.F193F NM_004211 NP_004202 Q9Y345 SC6A5_HUMAN Homo sapiens solute carrier family 6 (neurotransmitter transporter, glycine), member 5 (SLC6A5), mRNA. 428 synaptic transmission integral to membrane|plasma membrane glycine:sodium symporter activity|neurotransmitter:sodium symporter activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 63 Glycine(DB00145) CGGCCACGTTCCCGTATGTCG 0.577000 21 34 0 0 0.000953801 0 0 abParts 0 broad.mit.edu 37 14 106774146 106774146 + RNA SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr14:106774146G>A uc021ser.1 - 683 c.18664C>T Parts of antibodies, mostly variable regions. AGGTGTCCATGGAGAAGACAA 0.532000 8 9 0 0 0.000274275 0 0 ARID3A 1820 broad.mit.edu 37 19 929675 929675 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:929675C>T uc002lql.3 + 1 437 c.147C>T c.(145-147)ccC>ccT p.P49P NM_005224 NP_005215 Q99856 ARI3A_HUMAN Homo sapiens AT rich interactive domain 3A (BRIGHT-like) (ARID3A), mRNA. 49 cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1) 10 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) ACAGAGAGCCCGAGAGTGCCC 0.776000 3 5 0 0 0.00116845 0 0 MUC16 94025 broad.mit.edu 37 19 9088106 9088106 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:9088106G>A uc002mkp.3 - 0 3913 c.3709C>T c.(3709-3711)Cca>Tca p.P1237S NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 1237 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 CTGAGGGTTGGAAGTCCCCCT 0.507000 204 83 0 0 0.00361006 0 0 OR51B4 79339 broad.mit.edu 37 11 5322332 5322332 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr11:5322332G>A uc010qza.2 - 0 845 c.845C>T c.(844-846)cCa>cTa p.P282L HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron NM_033179 NP_149419 Q9Y5P0 O51B4_HUMAN Homo sapiens olfactory receptor, family 51, subfamily B, member 4 (OR51B4), mRNA. 282 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 20 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) ATTCACGAATGGAGGAAAGAG 0.433000 23 19 0 0 0.000958276 0 0 ROR2 4920 broad.mit.edu 37 9 94499787 94499787 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr9:94499787C>T uc004arj.2 - 4 707 c.508G>A c.(508-510)Gag>Aag p.E170K ROR2_uc004ari.1_Missense_Mutation_p.E30K|ROR2_uc004ark.3_Missense_Mutation_p.E170K NM_004560 NP_004551 Q01974 ROR2_HUMAN Homo sapiens receptor tyrosine kinase-like orphan receptor 2 (ROR2), mRNA. 170 FZ. negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|Wnt-protein binding|transmembrane receptor protein tyrosine kinase activity autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 71 AACCCATCCTCGTGGTAATCA 0.517000 5 25 0 0 0.00178596 0 0 LRFN2 57497 broad.mit.edu 37 6 40360041 40360041 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr6:40360041C>T uc003oph.1 - 2 2476 c.2011G>A c.(2011-2013)Gag>Aag p.E671K NM_020737 NP_065788 Q9ULH4 LRFN2_HUMAN Homo sapiens leucine rich repeat and fibronectin type III domain containing 2 (LRFN2), mRNA. 671 cell junction|integral to membrane|postsynaptic membrane breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 58 Ovarian(28;0.0418)|Colorectal(47;0.196) AGCAGCTCCTCCTTTCTCTGA 0.726000 19 9 0 0 0.000442599 0 0 CMA1 1215 broad.mit.edu 37 14 24976608 24976608 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr14:24976608G>A uc001wpp.1 - 1 193 c.163C>T c.(163-165)Ctt>Ttt p.L55F CMA1_uc010alx.1_Intron NM_001836 NP_001827 P23946 CMA1_HUMAN Homo sapiens chymase 1, mast cell (CMA1), mRNA. 55 Peptidase S1. interleukin-1 beta biosynthetic process|proteolysis extracellular region serine-type endopeptidase activity kidney(1)|lung(8)|pancreas(1)|prostate(1) 11 GBM - Glioblastoma multiforme(265;0.0271) CGTCTTATAAGGAAACCACCA 0.488000 83 80 0 0 0.00361006 0 0 SFRP1 6422 broad.mit.edu 37 8 41122947 41122947 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr8:41122947C>T uc003xnt.3 - 2 996 c.684G>A c.(682-684)aaG>aaA p.K228K NM_003012 NP_003003 Q8N474 SFRP1_HUMAN Homo sapiens secreted frizzled-related protein 1 (SFRP1), mRNA. 228 NTR. DNA fragmentation involved in apoptotic nuclear change|brain development|canonical Wnt receptor signaling pathway|cellular response to BMP stimulus|cellular response to estradiol stimulus|cellular response to fibroblast growth factor stimulus|cellular response to heparin|cellular response to hypoxia|cellular response to interleukin-1|cellular response to prostaglandin E stimulus|cellular response to starvation|cellular response to transforming growth factor beta stimulus|cellular response to tumor necrosis factor|cellular response to vitamin D|dorsal/ventral axis specification|hemopoietic progenitor cell differentiation|hemopoietic stem cell differentiation|menstrual cycle phase|negative regulation of B cell differentiation|negative regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|negative regulation of androgen receptor signaling pathway|negative regulation of bone remodeling|negative regulation of canonical Wnt receptor signaling pathway involved in controlling type B pancreatic cell proliferation|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cysteine-type endopeptidase activity|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast apoptosis|negative regulation of fibroblast proliferation|negative regulation of insulin secretion|negative regulation of ossification|negative regulation of osteoblast proliferation|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of Rac GTPase activity|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell growth|positive regulation of epithelial cell proliferation|positive regulation of fat cell differentiation|positive regulation of fibroblast apoptosis|positive regulation of focal adhesion assembly|positive regulation of non-canonical Wnt receptor signaling pathway|positive regulation of smoothened signaling pathway|positive regulation of stress fiber assembly|positive regulation of transcription, DNA-dependent|regulation of angiogenesis|regulation of cell cycle process|response to drug|response to organic cyclic compound|vasculature development cell surface|cytosol|extracellular space|plasma membrane|proteinaceous extracellular matrix PDZ domain binding|Wnt receptor activity|Wnt-protein binding|cysteine-type endopeptidase activity|drug binding|frizzled binding|heparin binding|identical protein binding breast(1)|central_nervous_system(1)|large_intestine(2)|liver(1)|lung(1)|skin(1) 7 Breast(1;9.19e-13)|Ovarian(28;0.00769)|Colorectal(14;0.0305)|Lung SC(25;0.211) all_lung(54;0.0034)|Lung NSC(58;0.0134)|Hepatocellular(245;0.023)|Esophageal squamous(32;0.0559) BRCA - Breast invasive adenocarcinoma(1;1.11e-10)|LUSC - Lung squamous cell carcinoma(45;0.00894)|COAD - Colon adenocarcinoma(11;0.0174) GCTTCTTCTTCTTGGGGACAA 0.473000 50 25 0 0 0.00395357 0 0 SAMD7 344658 broad.mit.edu 37 3 169644746 169644746 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr3:169644746C>T uc003fgd.3 + 5 963 c.696C>T c.(694-696)ccC>ccT p.P232P SAMD7_uc003fge.3_Silent_p.P232P|SAMD7_uc011bpo.2_Silent_p.P133P NM_182610 NP_872416 Q7Z3H4 SAMD7_HUMAN Homo sapiens sterile alpha motif domain containing 7 (SAMD7), mRNA. 232 p.P232P(2)|p.P232H(1) NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 31 all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106) TTGAAGCACCCAGCAACCAGA 0.483000 51 18 0 0 0.00074312 0 0 GPR158 57512 broad.mit.edu 37 10 25887866 25887866 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr10:25887866G>A uc001isj.3 + 10 3371 c.3311G>A c.(3310-3312)gGa>gAa p.G1104E GPR158_uc001isk.3_Missense_Mutation_p.G479E NM_020752 NP_065803 Q5T848 GP158_HUMAN Homo sapiens G protein-coupled receptor 158 (GPR158), mRNA. 1104 integral to membrane|plasma membrane G-protein coupled receptor activity p.N1103N(1) breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 119 GAGGAGAACGGAGGTCAGCCT 0.493000 68 26 0 0 0.000720815 0 0 SEMA5B 54437 broad.mit.edu 37 3 122667507 122667507 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr3:122667507G>A uc003efz.1 - 2 478 c.174C>T c.(172-174)atC>atT p.I58I SEMA5B_uc011bju.1_5'UTR|SEMA5B_uc003ega.1_Non-coding_Transcript|SEMA5B_uc003egb.1_Silent_p.I58I|SEMA5B_uc010hro.1_5'UTR|SEMA5B_uc010hrp.1_Non-coding_Transcript NM_001031702 NP_001026872 Q9P283 SEM5B_HUMAN Homo sapiens sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B (SEMA5B), transcript variant 1, mRNA. 58 cell differentiation|nervous system development integral to membrane receptor activity breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3) 55 GBM - Glioblastoma multiforme(114;0.0367) CAAGCACCATGATAGGCCCCT 0.627000 30 17 0 0 0.000566183 0 0 NOBOX 135935 broad.mit.edu 37 7 144098256 144098256 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr7:144098256G>A uc022aoj.1 - 3 727 c.727C>T c.(727-729)Cac>Tac p.H243Y NM_001080413 NP_001073882 O60393 NOBOX_HUMAN Homo sapiens NOBOX oogenesis homeobox (NOBOX), mRNA. 243 cell differentiation|oogenesis nucleus sequence-specific DNA binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1) 26 Melanoma(164;0.14) TTGGCCAGGTGGCAGGGCCCC 0.602000 7 21 0 0 0.00121646 0 0 DGCR2 9993 broad.mit.edu 37 22 19052576 19052576 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr22:19052576G>A uc002zoq.1 - 3 581 c.333C>T c.(331-333)ttC>ttT p.F111F DGCR2_uc021wkx.1_Intron|DGCR2_uc021wky.1_Silent_p.F70F|DGCR2_uc021wkz.1_5'UTR|DGCR2_uc011agr.1_Intron|DGCR2_uc002zor.1_Intron NM_005137 NP_005128 P98153 IDD_HUMAN Homo sapiens DiGeorge syndrome critical region gene 2 (DGCR2), transcript variant 1, mRNA. 111 cell adhesion|organ morphogenesis integral to membrane receptor activity|sugar binding breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1) 18 Colorectal(54;0.0993) ACTTCCCTAGGAAACATAAAG 0.547000 24 6 0 0 0.00116845 0 0 CCNA1 8900 broad.mit.edu 37 13 37016374 37016374 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr13:37016374C>T uc001uvr.4 + 7 1629 c.1279C>T c.(1279-1281)Cat>Tat p.H427Y CCNA1_uc010teo.2_Missense_Mutation_p.H383Y|CCNA1_uc010abq.3_Missense_Mutation_p.H383Y|CCNA1_uc010abp.3_Missense_Mutation_p.H383Y|CCNA1_uc001uvs.4_Missense_Mutation_p.H426Y|CCNA1_uc010abr.3_Non-coding_Transcript NM_003914 NP_001104517 P78396 CCNA1_HUMAN Homo sapiens cyclin A1 (CCNA1), transcript variant 1, mRNA. 427 G2/M transition of mitotic cell cycle|cell division|male meiosis I|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|spermatogenesis cytosol|microtubule cytoskeleton|nucleoplasm protein kinase binding breast(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1) 35 Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174) KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169) all cancers(112;1.91e-07)|Epithelial(112;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0119)|GBM - Glioblastoma multiforme(144;0.0242) GAGTGAGCTTCATAAAGCGTA 0.398000 22 48 0 0 0.00361006 0 0 CATSPER1 117144 broad.mit.edu 37 11 65793566 65793566 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr11:65793566G>A uc001ogt.3 - 0 423 c.285C>T c.(283-285)ggC>ggT p.G95G NM_053054 NP_444282 Q8NEC5 CTSR1_HUMAN Homo sapiens cation channel, sperm associated 1 (CATSPER1), mRNA. 95 His-rich. cell differentiation|multicellular organismal development|spermatogenesis cilium|flagellar membrane|integral to membrane protein binding breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 44 CCAGACCAAAGCCTGTGGGGC 0.597000 53 66 0 0 0.00361006 0 0 IL6ST 3572 broad.mit.edu 37 5 55237154 55237154 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr5:55237154G>A uc003jqq.3 - 16 2826 c.2513C>T c.(2512-2514)tCa>tTa p.S838L IL6ST_uc003jqp.3_3'UTR|IL6ST_uc010iwd.3_Missense_Mutation_p.S157L|IL6ST_uc011cqk.2_Missense_Mutation_p.S549L|IL6ST_uc003jqr.3_3'UTR|IL6ST_uc010iwb.3_Missense_Mutation_p.S777L NM_002184 NP_002175 P40189 IL6RB_HUMAN Homo sapiens interleukin 6 signal transducer (gp130, oncostatin M receptor) (IL6ST), transcript variant 1, mRNA. 838 interleukin-6-mediated signaling pathway|leukemia inhibitory factor signaling pathway|negative regulation of interleukin-6-mediated signaling pathway|positive regulation of T cell proliferation|positive regulation of anti-apoptosis|positive regulation of cardiac muscle hypertrophy|positive regulation of osteoblast differentiation|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation vascular endothelial growth factor production ciliary neurotrophic factor receptor complex|extracellular region|extracellular space|interleukin-6 receptor complex|oncostatin-M receptor complex ciliary neurotrophic factor receptor activity|ciliary neurotrophic factor receptor binding|growth factor binding|protein homodimerization activity breast(2)|endometrium(5)|kidney(5)|large_intestine(4)|liver(2)|lung(1)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 26 Lung NSC(810;8.69e-05)|Prostate(74;0.00308)|Breast(144;0.0544)|Ovarian(174;0.223) ATTGACTGATGAAACTTGCTT 0.383000 O hepatocellular ca 90 67 0 0 0.00361006 0 0 ODZ4 26011 broad.mit.edu 37 11 78399209 78399209 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr11:78399209C>T uc001ozl.4 - 28 5613 c.5150G>A c.(5149-5151)cGa>cAa p.R1717Q NM_001098816 NP_001092286 Q6N022 TEN4_HUMAN Homo sapiens odz, odd Oz/ten-m homolog 4 (Drosophila) (ODZ4), mRNA. 1717 signal transduction integral to membrane breast(4)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(45)|ovary(3)|pancreas(2)|prostate(4)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 95 TGTATCACTTCGGAAACTGCT 0.517000 108 47 0 0 0.00361006 0 0 WDR17 116966 broad.mit.edu 37 4 177098301 177098301 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr4:177098301C>T uc003iuj.3 + 28 3962 c.3659C>T c.(3658-3660)aCc>aTc p.T1220I WDR17_uc003ium.4_Missense_Mutation_p.T1181I|WDR17_uc003iul.2_Intron|WDR17_uc003iun.3_Missense_Mutation_p.T431I NM_170710 NP_733828 Q8IZU2 WDR17_HUMAN Homo sapiens WD repeat domain 17 (WDR17), transcript variant 1, mRNA. 1220 breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 92 Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232) ACACAGTCCACCAACAGGTGA 0.373000 4 10 0 0 0.00185496 0 0 WIPF2 147179 broad.mit.edu 37 17 38421226 38421226 + Silent SNP T C C TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr17:38421226T>C uc002hug.1 + 4 1038 c.798T>C c.(796-798)tcT>tcC p.S266S WIPF2_uc002huh.1_Silent_p.S116S|WIPF2_uc010cww.1_Silent_p.S116S|WIPF2_uc002hui.1_Silent_p.S266S|WIPF2_uc010cwx.1_Intron|WIPF2_uc010cwy.1_Silent_p.S266S NM_133264 NP_573571 Q8TF74 WIPF2_HUMAN Homo sapiens WAS/WASL interacting protein family, member 2 (WIPF2), mRNA. 266 cytoplasm|cytoskeleton actin binding NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 30 ATGGACCCTCTAGCCCCACTA 0.592000 HNSCC(43;0.11) 9 104 0 0 0.00361006 0 0 CYP11B1 1584 broad.mit.edu 37 8 143958196 143958196 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr8:143958196G>A uc010mey.3 - 5 921 c.914C>T c.(913-915)aCc>aTc p.T305I CYP11B1_uc010mex.3_5'Flank|CYP11B1_uc003yxh.3_5'Flank|CYP11B1_uc003yxi.3_Missense_Mutation_p.T234I|CYP11B1_uc003yxj.3_Missense_Mutation_p.T234I NM_000497 NP_000488 P15538 C11B1_HUMAN Homo sapiens cytochrome P450, family 11, subfamily B, polypeptide 1 (CYP11B1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 234 aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process mitochondrial inner membrane electron carrier activity|steroid 11-beta-monooxygenase activity central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2) 67 all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) Mitotane(DB00648) GAGCTGGACGGTGGATTTGAA 0.587000 Familial Hyperaldosteronism type I 36 21 0 0 0.00332997 0 0 POLR1A 25885 broad.mit.edu 37 2 86272890 86272890 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:86272890G>A uc002sqs.3 - 19 3115 c.2736C>T c.(2734-2736)atC>atT p.I912I POLR1A_uc010ytb.2_Silent_p.I278I|POLR1A_uc002sqt.1_5'Flank NM_015425 NP_056240 O95602 RPA1_HUMAN Homo sapiens polymerase (RNA) I polypeptide A, 194kDa (POLR1A), mRNA. 912 termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter DNA-directed RNA polymerase I complex|nucleoplasm DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 63 GCAGGCACGAGATCTGGAGGA 0.517000 33 29 0 0 0.001512 0 0 DOCK11 139818 broad.mit.edu 37 X 117731477 117731477 + Missense_Mutation SNP C T T rs138683152 byFrequency TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chrX:117731477C>T uc004eqp.2 + 20 2410 c.2347C>T c.(2347-2349)Cca>Tca p.P783S DOCK11_uc004eqq.2_Missense_Mutation_p.P549S NM_144658 NP_653259 Q5JSL3 DOC11_HUMAN Homo sapiens dedicator of cytokinesis 11 (DOCK11), mRNA. 783 DHR-1. blood coagulation cytosol GTP binding breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1) 84 CAATCTTCCCCCAGGCTACTT 0.403000 4 31 0 0 0.0024448 0 0 UGT1A1 54658 broad.mit.edu 37 2 234580754 234580754 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:234580754C>T uc002vus.3 + 0 211 c.174C>T c.(172-174)gtC>gtT p.V58V UGT1A1_uc010zmv.1_Intron|UGT1A1_uc002vup.3_Intron|UGT1A1_uc002vuq.3_Intron|UGT1A1_uc002vur.3_Intron|UGT1A1_uc010zmw.1_Silent_p.V58V NM_021027 NP_066307 P22309 UD11_HUMAN Homo sapiens UDP glucuronosyltransferase 1 family, polypeptide A9 (UGT1A9), mRNA. 60 bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process endoplasmic reticulum membrane|microsome enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2) 30 Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128) Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054) Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197) TGGTTGTAGTCATGCCAGAGG 0.522000 43 42 0 0 0.00170553 0 0 TPRA1 131601 broad.mit.edu 37 3 127294631 127294631 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr3:127294631G>A uc003ejn.2 - 7 964 c.631C>T c.(631-633)Ctt>Ttt p.L211F TPRA1_uc003ejl.2_Missense_Mutation_p.L211F|TPRA1_uc010hsk.2_Intron|TPRA1_uc003ejm.3_Intron NM_001136053 NP_057456 Q86W33 TPRA1_HUMAN Homo sapiens transmembrane protein, adipocyte asscociated 1 (TPRA1), transcript variant 1, mRNA. 211 aging|lipid metabolic process integral to membrane G-protein coupled receptor activity endometrium(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 9 GTCTTGGGAAGGATGACCACC 0.647000 48 34 0 0 0.00195071 0 0 DENND1B 163486 broad.mit.edu 37 1 197479641 197479641 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:197479641G>A uc021pgu.1 - 22 2615 c.2277C>T c.(2275-2277)ttC>ttT p.F759F DENND1B_uc010ppf.2_Non-coding_Transcript NM_001195215 NP_001182144 Q6P3S1 DEN1B_HUMAN Homo sapiens DENN/MADD domain containing 1B (DENND1B), transcript variant 3, mRNA. 0 clathrin-coated vesicle|cytosol guanyl-nucleotide exchange factor activity NS(2)|breast(2)|kidney(2)|large_intestine(3)|lung(12)|upper_aerodigestive_tract(1) 22 AGCTTTGTTGGAAGTCAGATG 0.373000 42 25 0 0 0.00278032 0 0 C5AR1 728 broad.mit.edu 37 19 47823206 47823206 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:47823206G>A uc002pgj.1 + 1 221 c.172G>A c.(172-174)Gtg>Atg p.V58M NM_001736 NP_001727 P21730 C5AR_HUMAN Homo sapiens complement component 5a receptor 1 (C5AR1), mRNA. 58 activation of MAPK activity|activation of phospholipase C activity|cellular defense response|elevation of cytosolic calcium ion concentration|immune response|sensory perception of chemical stimulus integral to plasma membrane C5a anaphylatoxin receptor activity central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(11)|ovary(2)|prostate(1)|skin(1) 20 all_cancers(25;2e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503) all cancers(93;0.000267)|OV - Ovarian serous cystadenocarcinoma(262;0.000618)|Epithelial(262;0.0142)|GBM - Glioblastoma multiforme(486;0.0242) CAATGCCCTGGTGGTCTGGGT 0.582000 33 24 0 0 0.00127121 0 0 PON1 5444 broad.mit.edu 37 7 94928282 94928282 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr7:94928282G>A uc003uns.3 - 8 1139 c.1042C>T c.(1042-1044)Cac>Tac p.H348Y PON1_uc011kih.2_Missense_Mutation_p.H348Y NM_000446 NP_000437 P27169 PON1_HUMAN Homo sapiens paraoxonase 1 (PON1), mRNA. 348 aromatic compound catabolic process|carboxylic acid catabolic process|organophosphate catabolic process|phosphatidylcholine metabolic process|positive regulation of binding|positive regulation of cholesterol efflux|positive regulation of transporter activity|response to external stimulus spherical high-density lipoprotein particle aryldialkylphosphatase activity|arylesterase activity|calcium ion binding|phospholipid binding|protein homodimerization activity autonomic_ganglia(1)|endometrium(2)|large_intestine(6)|lung(11)|pancreas(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2) 27 all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239) STAD - Stomach adenocarcinoma(171;0.0031) Atorvastatin(DB01076)|Cefazolin(DB01327) AGAGCTTTGTGAAACACTGTG 0.463000 90 17 0 0 0.00074312 0 0 SGSM1 129049 broad.mit.edu 37 22 25280142 25280142 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr22:25280142G>A uc003abg.2 + 15 1940 c.1783G>A c.(1783-1785)Gag>Aag p.E595K SGSM1_uc010guu.1_Missense_Mutation_p.E540K|SGSM1_uc003abh.2_Missense_Mutation_p.E595K|SGSM1_uc003abj.2_Missense_Mutation_p.E540K|SGSM1_uc003abi.1_Missense_Mutation_p.E515K NM_001039948 NP_001035037 Q2NKQ1 SGSM1_HUMAN Homo sapiens small G protein signaling modulator 1 (SGSM1), transcript variant 1, mRNA. 595 Golgi apparatus Rab GTPase activator activity p.E540K(1) NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 41 CAGGATCTGGGAGCAGTACCT 0.552000 37 19 0 0 0.00152264 0 0 SOBP 55084 broad.mit.edu 37 6 107955662 107955662 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr6:107955662C>T uc003prx.3 + 5 2118 c.1614C>T c.(1612-1614)ccC>ccT p.P538P NM_018013 NP_060483 A7XYQ1 SOBP_HUMAN Homo sapiens sine oculis binding protein homolog (Drosophila) (SOBP), mRNA. 538 Pro-rich. metal ion binding endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2) 26 all_cancers(87;5.26e-06)|Acute lymphoblastic leukemia(125;2.87e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.00193)|Colorectal(196;0.156) BRCA - Breast invasive adenocarcinoma(108;0.026)|all cancers(137;0.087)|Epithelial(106;0.104)|OV - Ovarian serous cystadenocarcinoma(136;0.154) TGCCCATCCCCATCCCCATCC 0.667000 2 17 0 0 0.000958276 0 0 CLDN2 9075 broad.mit.edu 37 X 106171786 106171786 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chrX:106171786G>A uc022ccd.1 + 0 328 c.328G>A c.(328-330)Gaa>Aaa p.E110K MORC4_uc004emp.4_Intron|CLDN2_uc004emq.1_Missense_Mutation_p.E110K|CLDN2_uc022ccc.1_Missense_Mutation_p.E110K|CLDN2_uc004emt.2_Missense_Mutation_p.E110K NM_020384 NP_065117 P57739 CLD2_HUMAN Homo sapiens claudin 2 (CLDN2), transcript variant 1, mRNA. 110 calcium-independent cell-cell adhesion integral to membrane|tight junction identical protein binding|structural molecule activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1) 9 CTTCTGCCAGGAATCCCGAGC 0.547000 4 38 0 0 0.00170553 0 0 FZD2 2535 broad.mit.edu 37 17 42636136 42636136 + Nonsense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr17:42636136G>A uc002igx.2 + 0 1325 c.1080G>A c.(1078-1080)tgG>tgA p.W360* NM_001466 NP_001457 Q14332 FZD2_HUMAN Homo sapiens frizzled family receptor 2 (FZD2), mRNA. 360 G-protein signaling, coupled to cGMP nucleotide second messenger|Wnt receptor signaling pathway, calcium modulating pathway|axonogenesis|brain development|canonical Wnt receptor signaling pathway|epithelial cell differentiation|gonad development|positive regulation of cGMP metabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|vasculature development apical part of cell|cytoplasm|integral to membrane|neuron projection membrane G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(8) 33 Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.189) GCATGAAGTGGGGCCACGAGG 0.622000 34 50 0 0 0.00361006 0 0 PBRM1 55193 broad.mit.edu 37 3 52582135 52582135 + Missense_Mutation SNP A T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr3:52582135A>T uc003des.2 - 29 5026 c.5014T>A c.(5014-5016)Ttg>Atg p.L1672M PBRM1_uc003dex.2_Non-coding_Transcript|PBRM1_uc003deq.2_Missense_Mutation_p.L1565M|PBRM1_uc003der.2_Missense_Mutation_p.L1585M|PBRM1_uc003det.2_Missense_Mutation_p.L1580M|PBRM1_uc003deu.2_Missense_Mutation_p.L1635M|PBRM1_uc003dev.2_Non-coding_Transcript|PBRM1_uc003dew.2_Missense_Mutation_p.L1617M|PBRM1_uc010hmk.1_Missense_Mutation_p.L1592M|PBRM1_uc003dey.2_Missense_Mutation_p.L1565M NM_181042 NP_060635 Q86U86 PB1_HUMAN Homo sapiens polybromo 1 (PBRM1), transcript variant 4, mRNA. 1672 chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear chromosome DNA binding|chromatin binding|protein binding breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1) 335 BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613) CGGAGCATCAAATCTCGAAGG 0.478000 """Mis, N, F, S, D, O""" """clear cell renal carcinoma, breast""" 16 79 0 0 0.00361006 0 0 ZNF423 23090 broad.mit.edu 37 16 49671869 49671869 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr16:49671869C>T uc002efs.3 - 4 1492 c.1194G>A c.(1192-1194)cgG>cgA p.R398R ZNF423_uc010vgn.2_Silent_p.R281R NM_015069 NP_055884 Q2M1K9 ZN423_HUMAN Homo sapiens zinc finger protein 423 (ZNF423), mRNA. 398 cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding p.R398W(1) 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) GCCCGTCATCCCGCATCTTCT 0.632000 30 10 0 0 0.000978159 0 0 SCML1 6322 broad.mit.edu 37 X 17768160 17768160 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chrX:17768160C>T uc004cyb.3 + 5 775 c.450C>T c.(448-450)tcC>tcT p.S150S SCML1_uc004cyc.3_Silent_p.S123S|SCML1_uc004cyd.3_Silent_p.S29S|SCML1_uc004cye.3_Silent_p.S29S NM_001037540 NP_001032625 Q9UN30 SCML1_HUMAN Homo sapiens sex comb on midleg-like 1 (Drosophila) (SCML1), transcript variant 1, mRNA. 150 anatomical structure morphogenesis nucleus DNA binding|sequence-specific DNA binding transcription factor activity p.D150E(1) breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|ovary(1) 10 Hepatocellular(33;0.183) AGAATAATTCCCCGAGCAACC 0.498000 5 61 0 0 0.00361006 0 0 BAI2 576 broad.mit.edu 37 1 32207543 32207543 + Nonsense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:32207543C>T uc001btn.3 - 8 1797 c.1443G>A c.(1441-1443)tgG>tgA p.W481* BAI2_uc010ogo.2_Nonsense_Mutation_p.W123*|BAI2_uc010ogp.2_Nonsense_Mutation_p.W414*|BAI2_uc010ogq.2_Nonsense_Mutation_p.W481*|BAI2_uc001bto.3_Nonsense_Mutation_p.W481*|BAI2_uc001btq.1_Nonsense_Mutation_p.W414*|BAI2_uc010ogr.1_Nonsense_Mutation_p.W414* NM_001703 NP_001694 O60241 BAI2_HUMAN Homo sapiens brain-specific angiogenesis inhibitor 2 (BAI2), mRNA. 481 TSP type-1 4. negative regulation of angiogenesis|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 55 Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174) STAD - Stomach adenocarcinoma(196;0.0557) TCCACGCATTCCATGGCCCCC 0.642000 29 57 0 0 0.00361006 0 0 CNTNAP4 85445 broad.mit.edu 37 16 76486500 76486500 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr16:76486500G>A uc002fex.1 + 6 1315 c.1176G>A c.(1174-1176)gaG>gaA p.E392E CNTNAP4_uc002feu.1_Silent_p.E388E|CNTNAP4_uc002fev.1_Silent_p.E253E|CNTNAP4_uc010chb.1_Silent_p.E316E|CNTNAP4_uc002few.2_Silent_p.E364E NM_033401 NP_207837 Q9C0A0 CNTP4_HUMAN Homo sapiens contactin associated protein-like 4 (CNTNAP4), transcript variant 1, mRNA. 389 cell adhesion|signal transduction integral to membrane receptor binding breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1) 64 TCTCTGGAGAGGAGGAGGTTT 0.463000 74 16 0 0 0.000422831 0 0 SEZ6L2 26470 broad.mit.edu 37 16 29908237 29908237 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr16:29908237G>A uc010vec.2 - 2 662 c.417C>T c.(415-417)tcC>tcT p.S139S BOLA2_uc010bzb.1_Intron|SEZ6L2_uc002dup.4_Intron|SEZ6L2_uc002dur.4_Intron|SEZ6L2_uc002duq.4_Silent_p.S139S|SEZ6L2_uc010ved.2_Silent_p.S95S|SEZ6L2_uc002dus.4_Silent_p.S139S NM_001243332 NP_001230261 Q6UXD5 SE6L2_HUMAN Homo sapiens seizure related 6 homolog (mouse)-like 2 (SEZ6L2), transcript variant 5, mRNA. 139 Pro-rich. endoplasmic reticulum membrane|integral to membrane|plasma membrane p.S139F(1) breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 GAGGCCCTGGGGAGGCAGGGC 0.687000 36 8 0 0 0.000442599 0 0 PROKR1 10887 broad.mit.edu 37 2 68872977 68872977 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:68872977G>A uc010yqj.2 + 0 184 c.24G>A c.(22-24)atG>atA p.M8I PROKR1_uc002ses.3_Non-coding_Transcript NM_138964 NP_620414 Q8TCW9 PKR1_HUMAN Homo sapiens prokineticin receptor 1 (PROKR1), mRNA. 8 integral to membrane|plasma membrane neuropeptide Y receptor activity endometrium(3)|kidney(2)|large_intestine(14)|lung(9)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 TGGGGTTCATGGATGACAATG 0.547000 65 49 0 0 0.00361006 0 0 MEFV 4210 broad.mit.edu 37 16 3304424 3304424 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr16:3304424C>T uc002cun.1 - 1 684 c.644G>A c.(643-645)gGg>gAg p.G215E MEFV_uc021tbw.1_Intron|MEFV_uc021tbx.1_Intron|MEFV_uc021tby.1_Intron|MEFV_uc021tbz.1_Intron|MEFV_uc021tca.1_Non-coding_Transcript|MEFV_uc021tcb.1_Intron NM_000243 NP_000234 O15553 MEFV_HUMAN Homo sapiens Mediterranean fever (MEFV), transcript variant 1, mRNA. 215 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) CCCCGCCAGCCCCTGCAGCCT 0.711000 12 24 0 0 0.00332997 0 0 ZNF488 118738 broad.mit.edu 37 10 48371305 48371305 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr10:48371305C>T uc001jex.3 + 1 935 c.773C>T c.(772-774)tCg>tTg p.S258L ZNF488_uc021ppx.1_Missense_Mutation_p.S258L NM_153034 NP_694579 Q96MN9 ZN488_HUMAN Homo sapiens zinc finger protein 488 (ZNF488), mRNA. 258 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|ovary(2) 14 TCCACCACTTCGTGGGCCCTC 0.612000 19 34 0 0 0.00283554 0 0 SLIT3 6586 broad.mit.edu 37 5 168671773 168671773 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr5:168671773C>T uc010jjg.3 - 2 697 c.277G>A c.(277-279)Gaa>Aaa p.E93K SLIT3_uc003mab.3_Missense_Mutation_p.E93K|SLIT3_uc010jji.2_Missense_Mutation_p.E93K NM_003062 NP_003053 O75094 SLIT3_HUMAN Homo sapiens slit homolog 3 (Drosophila) (SLIT3), mRNA. 93 Roundabout signaling pathway|apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus extracellular space|mitochondrion Roundabout binding|calcium ion binding endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) TGGTTGTCTTCCAGATGCCTA 0.517000 25 10 0 0 0.00244969 0 0 MBD5 55777 broad.mit.edu 37 2 149243398 149243398 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:149243398C>T uc002twm.4 + 10 3930 c.2933C>T c.(2932-2934)cCa>cTa p.P978L MBD5_uc010zbs.2_Non-coding_Transcript|MBD5_uc002two.3_Missense_Mutation_p.P236L|MBD5_uc002twp.3_Missense_Mutation_p.P28L NM_018328 NP_060798 Q9P267 MBD5_HUMAN Homo sapiens methyl-CpG binding domain protein 5 (MBD5), mRNA. 978 chromosome|nucleus DNA binding|chromatin binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3) 62 BRCA - Breast invasive adenocarcinoma(221;0.0569) ATGTTTCCTCCAAATCAGCAA 0.433000 41 36 0 0 0.000953801 0 0 LTBP1 4052 broad.mit.edu 37 2 33468816 33468816 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:33468816G>A uc021vft.1 + 9 1987 c.1964G>A c.(1963-1965)gGa>gAa p.G655E LTBP1_uc002rou.3_Missense_Mutation_p.G329E|LTBP1_uc002rov.3_Missense_Mutation_p.G329E|LTBP1_uc010ymz.2_Missense_Mutation_p.G329E|LTBP1_uc010yna.2_Missense_Mutation_p.G329E NM_206943 NP_996826 Q14766 LTBP1_HUMAN Homo sapiens latent transforming growth factor beta binding protein 1 (LTBP1), transcript variant 1, mRNA. 655 EGF-like 3; calcium-binding (Potential). negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta proteinaceous extracellular matrix calcium ion binding|growth factor binding|transforming growth factor beta receptor activity breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3) 108 all_hematologic(175;0.115) Medulloblastoma(90;0.215) TGCAAAATAGGATTTGGGCCG 0.383000 32 57 0 0 0.00361006 0 0 RNF113B 140432 broad.mit.edu 37 13 98829361 98829361 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr13:98829361C>T uc001vnk.3 - 0 161 c.130G>A c.(130-132)Gga>Aga p.G44R FARP1_uc001vnh.3_Intron|FARP1_uc001vni.3_Intron|FARP1_uc001vnj.3_Intron NM_178861 NP_849192 Q8IZP6 R113B_HUMAN Homo sapiens ring finger protein 113B (RNF113B), mRNA. 44 nucleic acid binding|zinc ion binding p.H43Q(1) breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 18 all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) BRCA - Breast invasive adenocarcinoma(86;0.13) CTGCTCTCTCCGTGCTCGGGG 0.692000 21 10 0 0 0.000442599 0 0 SEPHS1 22929 broad.mit.edu 37 10 13380726 13380726 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr10:13380726G>A uc001imk.3 - 2 653 c.276C>T c.(274-276)atC>atT p.I92I SEPHS1_uc001imh.3_5'Flank|SEPHS1_uc010qbs.2_Silent_p.I44I|SEPHS1_uc010qbt.2_Silent_p.I25I|SEPHS1_uc021pnc.1_Silent_p.I92I|SEPHS1_uc021pnd.1_Silent_p.I92I|SEPHS1_uc009xje.3_Silent_p.I92I NM_012247 NP_001182531 P49903 SPS1_HUMAN Homo sapiens selenophosphate synthetase 1 (SEPHS1), transcript variant 1, mRNA. 92 protein modification process ATP binding|GTP binding|selenide, water dikinase activity cervix(1)|endometrium(3)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|stomach(1) 16 GGTCGTCTACGATCGGGTAAA 0.463000 79 31 0 0 0.00327116 0 0 CYFIP1 23191 broad.mit.edu 37 15 22999452 22999452 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr15:22999452C>T uc001yus.3 + 28 3428 c.3324C>T c.(3322-3324)atC>atT p.I1108I CYFIP1_uc001yut.3_Silent_p.I1108I|CYFIP1_uc001yuu.3_Silent_p.I677I|CYFIP1_uc001yuv.3_Silent_p.I302I NM_014608 NP_055423 Q7L576 CYFP1_HUMAN Homo sapiens cytoplasmic FMR1 interacting protein 1 (CYFIP1), transcript variant 1, mRNA. 1108 axon extension|lamellipodium assembly|regulation of cell shape|ruffle organization cell junction|lamellipodium|mRNA cap binding complex|perinuclear region of cytoplasm|ruffle|synapse|synaptosome Rac GTPase binding|actin filament binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 40 all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488) all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101) ATGACCCCATCTGGCGCGGGC 0.587000 34 22 0 0 0.00278032 0 0 ROR2 4920 broad.mit.edu 37 9 94499761 94499762 + Missense_Mutation DNP CC TT TT TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr9:94499761_94499762CC>TT uc004arj.2 - 4 732_733 c.533_534GG>AA c.(532-534)cgg>cAA p.R178Q ROR2_uc004ari.1_Missense_Mutation_p.R38Q|ROR2_uc004ark.3_Missense_Mutation_p.R178Q NM_004560 NP_004551 Q01974 ROR2_HUMAN Homo sapiens receptor tyrosine kinase-like orphan receptor 2 (ROR2), mRNA. 178 FZ. negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|Wnt-protein binding|transmembrane receptor protein tyrosine kinase activity autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 71 AGGCAATTCCCCGGTAAGGCTG 0.530000 5 35 0 0 6.4e-05 0 0 ZDBF2 57683 broad.mit.edu 37 2 207171024 207171024 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:207171024C>T uc002vbp.2 + 4 2022 c.1772C>T c.(1771-1773)tCa>tTa p.S591L NM_020923 NP_065974 Q9HCK1 ZDBF2_HUMAN Homo sapiens zinc finger, DBF-type containing 2 (ZDBF2), mRNA. 591 nucleic acid binding|zinc ion binding p.E590G(1) endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 95 TCTCTTGAGTCAGTAGTTGAT 0.403000 22 15 0 0 0.00316338 0 0 RNF17 56163 broad.mit.edu 37 13 25370433 25370433 + Splice_Site SNP G A A rs9581180 TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr13:25370433G>A uc001upr.3 + 11 1440 c.1399_splice c.e11+1 p.G467_splice RNF17_uc010tdd.1_Splice_Site_p.G326_splice|RNF17_uc010tde.2_Splice_Site_p.G467_splice|RNF17_uc010aab.3_Splice_Site|RNF17_uc001ups.3_Splice_Site_p.G406_splice|RNF17_uc001upq.1_Splice_Site NM_031277 NP_112567 Q9BXT8 RNF17_HUMAN Homo sapiens ring finger protein 17 (RNF17), transcript variant 1, mRNA. 467 G -> S (in dbSNP:rs9581180). 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) TTTGGAACTAGGTAATGAAAT 0.303000 26 46 0 0 0.00361006 0 0 CPN1 1369 broad.mit.edu 37 10 101835787 101835787 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr10:101835787C>T uc001kql.2 - 1 561 c.301G>A c.(301-303)Gag>Aag p.E101K NM_001308 NP_001299 P15169 CBPN_HUMAN Homo sapiens carboxypeptidase N, polypeptide 1 (CPN1), mRNA. 101 Catalytic. proteolysis extracellular space metallocarboxypeptidase activity|zinc ion binding p.S100L(1) breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 33 Colorectal(252;0.234) Epithelial(162;4.77e-10)|all cancers(201;3.82e-08) CACAGAAACTCCGACAGCTGC 0.577000 14 40 0 0 0.00195071 0 0 MYO18B 84700 broad.mit.edu 37 22 26423593 26423593 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr22:26423593G>A uc003abz.1 + 42 7903 c.7653G>A c.(7651-7653)ggG>ggA p.G2551G MYO18B_uc003aca.1_Silent_p.G2432G|MYO18B_uc010guy.1_Silent_p.G2433G|MYO18B_uc010guz.1_Silent_p.G2431G|MYO18B_uc011aka.1_Silent_p.G1705G|MYO18B_uc011akb.1_Silent_p.G2064G|MYO18B_uc010gva.1_Silent_p.G534G|MYO18B_uc010gvb.1_Non-coding_Transcript NM_032608 NP_115997 Q8IUG5 MY18B_HUMAN Homo sapiens myosin XVIIIB (MYO18B), mRNA. 2551 nucleus|sarcomere|unconventional myosin complex ATP binding|actin binding|motor activity NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 146 CAGGGACGGGGAGGAAAGACG 0.547000 22 19 0 0 0.00121646 0 0 EMBP1 647121 broad.mit.edu 37 1 121306532 121306532 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:121306532G>A uc009wht.1 + 0 109 c.80G>A c.(79-81)gGa>gAa p.G27E EMBP1_uc001eiu.1_Non-coding_Transcript Homo sapiens embigin pseudogene 1 (EMBP1), non-coding RNA. GAAGATGGGGGATTTTACTGG 0.403000 40 11 0 0 0.00185496 0 0 FAM123C 205147 broad.mit.edu 37 2 131519766 131519766 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:131519766C>T uc021voy.1 + 0 121 c.121C>T c.(121-123)Cca>Tca p.P41S FAM123C_uc002trw.2_Missense_Mutation_p.P41S|FAM123C_uc010fmv.2_Missense_Mutation_p.P41S|FAM123C_uc010fms.1_Missense_Mutation_p.P41S|FAM123C_uc010fmt.1_Missense_Mutation_p.P41S|FAM123C_uc010fmu.1_Missense_Mutation_p.P41S NM_152698 NP_689911 Q8N944 F123C_HUMAN Homo sapiens family with sequence similarity 123C (FAM123C), transcript variant 1, mRNA. 41 breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(43)|ovary(2)|pancreas(4)|prostate(3)|skin(8) 73 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.13) GTCAGTCCTTCCAGGAGGGCA 0.647000 8 4 0 0 0.000602214 0 0 CCDC11 220136 broad.mit.edu 37 18 47777253 47777253 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr18:47777253C>T uc002lee.2 - 4 962 c.871G>A c.(871-873)Gcc>Acc p.A291T NM_145020 NP_659457 Q96M91 CCD11_HUMAN Homo sapiens coiled-coil domain containing 11 (CCDC11), mRNA. 291 endometrium(1)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|pancreas(1)|skin(1) 20 STAD - Stomach adenocarcinoma(97;2.66e-05)|Colorectal(21;7.57e-05)|Lung(128;0.00932)|READ - Rectum adenocarcinoma(32;0.164) TCTTGTAGGGCTTTTTGCAAA 0.418000 141 120 0 0 0.00361006 0 0 HIC2 23119 broad.mit.edu 37 22 21800468 21800468 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr22:21800468G>A uc002zur.4 + 2 1514 c.1284G>A c.(1282-1284)cgG>cgA p.R428R HIC2_uc002zus.4_Silent_p.R428R NM_015094 NP_055909 Q96JB3 HIC2_HUMAN Homo sapiens hypermethylated in cancer 2 (HIC2), mRNA. 428 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent focal adhesion|nucleus DNA binding|protein C-terminus binding|zinc ion binding NS(1)|endometrium(4)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 16 Melanoma(16;0.000465)|Ovarian(15;0.00438)|Colorectal(54;0.0968) Lung SC(17;0.0262)|all_lung(157;0.205) ACATGTACCGGCAGGAGGGCT 0.632000 55 16 0 0 0.00121646 0 0 PDE2A 5138 broad.mit.edu 37 11 72290592 72290592 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr11:72290592G>A uc010rrc.2 - 25 2488 c.2242C>T c.(2242-2244)Cat>Tat p.H748Y PDE2A_uc001oso.3_Missense_Mutation_p.H727Y|PDE2A_uc010rra.2_Missense_Mutation_p.H741Y|PDE2A_uc001osn.3_Missense_Mutation_p.H492Y|PDE2A_uc010rrb.2_Missense_Mutation_p.H739Y|PDE2A_uc010rrd.2_Missense_Mutation_p.H633Y NM_002599 NP_002590 O00408 PDE2A_HUMAN Homo sapiens phosphodiesterase 2A, cGMP-stimulated (PDE2A), transcript variant 1, mRNA. 748 Catalytic (By similarity). platelet activation|signal transduction cytosol 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity|metal ion binding breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 36 BRCA - Breast invasive adenocarcinoma(5;3.55e-05) Sildenafil(DB00203)|Sulindac(DB00605) CGGGAGAAATGATCAAAGATG 0.622000 86 34 0 0 0.000953801 0 0 CYFIP2 26999 broad.mit.edu 37 5 156817610 156817610 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr5:156817610C>T uc021ygm.1 + 29 3663 c.3525C>T c.(3523-3525)ttC>ttT p.F1175F CYFIP2_uc011ddn.2_Silent_p.F1150F|CYFIP2_uc011ddo.2_Silent_p.F980F|CYFIP2_uc021ygn.1_Silent_p.F1175F|CYFIP2_uc021ygo.1_Silent_p.F1175F|CYFIP2_uc003lwt.3_Silent_p.F1079F|CYFIP2_uc011ddp.2_Silent_p.F910F NM_001037333 NP_001032410 Q96F07 CYFP2_HUMAN Homo sapiens cytoplasmic FMR1 interacting protein 2 (CYFIP2), transcript variant 1, mRNA. 1201 apoptosis|cell-cell adhesion cell junction|perinuclear region of cytoplasm|synapse|synaptosome protein binding breast(1)|endometrium(12)|kidney(2)|lung(23) 38 Renal(175;0.00212) Medulloblastoma(196;0.0306)|all_neural(177;0.0897) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) TTGACCTGTTCGACTTCTGTT 0.567000 220 109 0 0 0.00361006 0 0 CLPTM1 1209 broad.mit.edu 37 19 45495627 45495627 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:45495627C>T uc002pai.3 + 12 1746 c.1692C>T c.(1690-1692)ccC>ccT p.P564P CLPTM1_uc010xxf.2_Silent_p.P462P|CLPTM1_uc010xxg.2_Silent_p.P550P|CLPTM1_uc021uvo.1_Silent_p.P42P NM_001294 NP_001285 O96005 CLPT1_HUMAN Homo sapiens cleft lip and palate associated transmembrane protein 1 (CLPTM1), transcript variant 2, mRNA. 564 cell differentiation|multicellular organismal development|regulation of T cell differentiation in thymus external side of plasma membrane|integral to plasma membrane p.P564P(3) endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 23 all_neural(266;0.224)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.00354)|Epithelial(262;0.187) TCAAGATGCCCGTTATGTACC 0.622000 149 130 0 0 0.00361006 0 0 SCMH1 22955 broad.mit.edu 37 1 41608760 41608760 + Missense_Mutation SNP A G G TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:41608760A>G uc001cgo.3 - 5 541 c.172T>C c.(172-174)Ttc>Ctc p.F58L SCMH1_uc010ojr.2_Missense_Mutation_p.F11L|SCMH1_uc001cgp.3_5'UTR|SCMH1_uc001cgr.3_5'UTR|SCMH1_uc001cgq.3_Missense_Mutation_p.F11L|SCMH1_uc001cgs.3_Missense_Mutation_p.F68L|SCMH1_uc001cgt.3_5'UTR|SCMH1_uc010ojs.1_Non-coding_Transcript NM_001031694 NP_001165692 Q96GD3 SCMH1_HUMAN Homo sapiens sex comb on midleg homolog 1 (Drosophila) (SCMH1), transcript variant 1, mRNA. 58 anatomical structure morphogenesis|gene silencing|multicellular organismal development|negative regulation of transcription, DNA-dependent DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(2)|pancreas(2)|upper_aerodigestive_tract(1) 15 Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)|Breast(333;0.162) Myeloproliferative disorder(586;0.0393) CTGATCTTGAACTCGTTGCTT 0.473000 43 84 0 0 0.00361006 0 0 MYBPC2 4606 broad.mit.edu 37 19 50938457 50938457 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:50938457G>A uc002psf.2 + 1 110 c.59G>A c.(58-60)gGa>gAa p.G20E NM_004533 NP_004524 Q14324 MYPC2_HUMAN Homo sapiens myosin binding protein C, fast type (MYBPC2), mRNA. 20 cell adhesion|muscle filament sliding cytosol|myosin filament actin binding|structural constituent of muscle breast(1) 1 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144) GCCCCCAAAGGAGCCCCCAAG 0.617000 6 6 0 0 0.00307968 0 0 SLC7A2 6542 broad.mit.edu 37 8 17417987 17417988 + Missense_Mutation DNP CC TT TT TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr8:17417987_17417988CC>TT uc011kye.2 + 8 1617_1618 c.1569_1570CC>TT c.(1567-1572)tccctt>tcTTtt p.L524F SLC7A2_uc011kyc.2_Missense_Mutation_p.L484F|SLC7A2_uc011kyd.2_Missense_Mutation_p.L523F NM_001164771 NP_001158243 P52569 CTR2_HUMAN Homo sapiens solute carrier family 7 (cationic amino acid transporter, y+ system), member 2 (SLC7A2), transcript variant 3, mRNA. 484 cellular amino acid metabolic process|ion transport cytoplasm|integral to plasma membrane|membrane fraction basic amino acid transmembrane transporter activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1) 25 Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216) L-Lysine(DB00123)|L-Ornithine(DB00129) TCTGCCCCTCCCTTCTGCCAAC 0.535000 67 18 0 0 6.4e-05 0 0 LMNA 4000 broad.mit.edu 37 1 156105073 156105073 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:156105073C>T uc001fni.2 + 4 1155 c.906C>T c.(904-906)ctC>ctT p.L302L LMNA_uc001fnf.1_Silent_p.L302L|LMNA_uc001fng.2_Silent_p.L302L|LMNA_uc001fnh.2_Silent_p.L302L|LMNA_uc009wro.1_Silent_p.L302L|LMNA_uc010pgz.1_Silent_p.L190L|LMNA_uc001fnj.2_Silent_p.L221L|LMNA_uc001fnk.2_Silent_p.L203L|LMNA_uc009wrp.3_Missense_Mutation_p.S30F|LMNA_uc010pha.1_5'Flank NM_170707 NP_733821 P02545 LMNA_HUMAN Homo sapiens lamin A/C (LMNA), transcript variant 1, mRNA. 302 Coil 2.|Rod. L -> P (in MDCL). cellular component disassembly involved in apoptosis|cellular response to hypoxia|establishment or maintenance of microtubule cytoskeleton polarity|muscle organ development|positive regulation of cell aging|regulation of apoptosis|regulation of cell migration cytoplasm|lamin filament|nuclear envelope|perinuclear region of cytoplasm protein binding|structural molecule activity NS(1)|endometrium(1)|kidney(1)|lung(3)|ovary(4) 10 Hepatocellular(266;0.158) TCGACAGCCTCTCTGCCCAGC 0.652000 Werner syndrome;Hutchinson-Gilford Progeria Syndrome 44 40 0 0 0.00170553 0 0 BCL11B 64919 broad.mit.edu 37 14 99641447 99641447 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr14:99641447C>T uc001yga.3 - 3 1993 c.1726G>A c.(1726-1728)Gtc>Atc p.V576I BCL11B_uc001ygb.3_Missense_Mutation_p.V505I NM_138576 NP_612808 Q9C0K0 BC11B_HUMAN Homo sapiens B-cell CLL/lymphoma 11B (zinc finger protein) (BCL11B), transcript variant 1, mRNA. 576 Gly-rich. nucleus zinc ion binding NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2) 34 Melanoma(154;0.0866)|all_epithelial(191;0.241) COAD - Colon adenocarcinoma(157;0.103) gcgcccgggaccccgggcACC 0.716000 T TLX3 T-ALL 12 7 0 0 0.00307968 0 0 EFTUD1 79631 broad.mit.edu 37 15 82444611 82444611 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr15:82444611G>A uc002bgt.1 - 17 2353 c.2184C>T c.(2182-2184)atC>atT p.I728I EFTUD1_uc002bgu.1_Silent_p.I677I NM_024580 NP_078856 Q7Z2Z2 ETUD1_HUMAN Homo sapiens elongation factor Tu GTP binding domain containing 1 (EFTUD1), transcript variant 1, mRNA. 728 mature ribosome assembly GTP binding|GTPase activity|ribosome binding|translation elongation factor activity cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 32 TTCCTTCAGGGATTTTGCTTT 0.433000 114 54 0 0 0.00361006 0 0 ATE1 11101 broad.mit.edu 37 10 123600660 123600660 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr10:123600660G>A uc001lfp.3 - 8 1176 c.1094C>T c.(1093-1095)tCt>tTt p.S365F ATE1_uc001lfq.3_Missense_Mutation_p.S365F|ATE1_uc010qtr.2_Missense_Mutation_p.S250F|ATE1_uc010qts.2_Missense_Mutation_p.S269F|ATE1_uc010qtt.2_Missense_Mutation_p.S358F|ATE1_uc001lfr.3_Missense_Mutation_p.S66F|ATE1_uc009xzu.3_Non-coding_Transcript NM_007041 NP_008972 O95260 ATE1_HUMAN Homo sapiens arginyltransferase 1 (ATE1), transcript variant 2, mRNA. 365 protein arginylation cytoplasm|nucleus acyltransferase activity|arginyltransferase activity endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 14 all_neural(114;0.061)|Lung NSC(174;0.095)|all_lung(145;0.124)|Breast(234;0.212) CAAATACACAGATGATACACA 0.453000 1 5 0 0 0.000602214 0 0 HPN 3249 broad.mit.edu 37 19 35551533 35551533 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:35551533G>A uc002nxq.2 + 9 868 c.623G>A c.(622-624)cGg>cAg p.R208Q HPN_uc002nxr.2_Missense_Mutation_p.R208Q|HPN_uc010xsh.1_Missense_Mutation_p.R177Q|HPN_uc002nxt.1_Missense_Mutation_p.R92Q|LOC100128675_uc010xsi.2_Intron NM_002151 NP_892028 P05981 HEPS_HUMAN Homo sapiens hepsin (HPN), transcript variant 2, mRNA. 208 Peptidase S1. cell growth|proteolysis cytoplasm|integral to plasma membrane scavenger receptor activity|serine-type endopeptidase activity central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|upper_aerodigestive_tract(2) 19 all_lung(56;5.38e-08)|Lung NSC(56;8.61e-08)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0849) Coagulation factor VIIa(DB00036) CCTGGTAGGCGGAACCGGGTC 0.692000 24 18 0 0 0.00188189 0 0 ZNF592 9640 broad.mit.edu 37 15 85326229 85326229 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr15:85326229G>A uc002bld.3 + 3 659 c.323G>A c.(322-324)gGg>gAg p.G108E ZNF592_uc010upb.2_Non-coding_Transcript NM_014630 NP_055445 Q92610 ZN592_HUMAN Homo sapiens zinc finger protein 592 (ZNF592), mRNA. 108 cell death|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(2)|kidney(1)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1) 40 BRCA - Breast invasive adenocarcinoma(143;0.0587) CACAACTGTGGGAAATTTGAT 0.507000 37 42 0 0 0.00170553 0 0 RDH8 50700 broad.mit.edu 37 19 10132293 10132293 + Silent SNP A G G TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:10132293A>G uc002mmr.3 + 5 1053 c.804A>G c.(802-804)aaA>aaG p.K268K NM_015725 NP_056540 Q9NYR8 RDH8_HUMAN Homo sapiens retinol dehydrogenase 8 (all-trans) (RDH8), mRNA. 268 estrogen biosynthetic process|response to stimulus|visual perception cytoplasm|integral to plasma membrane NADP-retinol dehydrogenase activity|binding|estradiol 17-beta-dehydrogenase activity|retinol dehydrogenase activity endometrium(3)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|prostate(1) 21 Epithelial(33;4.24e-05) Vitamin A(DB00162) CCACGCTCAAAACCGTGGATT 0.612000 26 23 0 0 0.00188189 0 0 APOL5 80831 broad.mit.edu 37 22 36116701 36116701 + Splice_Site SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr22:36116701C>T uc003aof.3 + 2 142 c.142_splice c.e2+1 p.P48_splice NM_030642 NP_085145 Q9BWW9 APOL5_HUMAN Homo sapiens apolipoprotein L, 5 (APOL5), mRNA. 48 lipid metabolic process|lipid transport|lipoprotein metabolic process cytoplasm|extracellular region high-density lipoprotein particle binding|lipid binding|protein binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|skin(2)|urinary_tract(1) 19 acctgagttccgtgagggcag 0.498000 25 22 0 0 0.00188189 0 0 ANK2 287 broad.mit.edu 37 4 114276414 114276414 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr4:114276414C>T uc003ibe.4 + 37 6740 c.6640C>T c.(6640-6642)Ccg>Tcg p.P2214S ANK2_uc003ibd.4_Intron|ANK2_uc003ibf.4_Intron|ANK2_uc011cgc.2_Intron|ANK2_uc003ibg.4_Intron|ANK2_uc003ibh.4_Intron|ANK2_uc011cgb.1_Missense_Mutation_p.P2229S NM_001148 NP_001139 Q01484 ANK2_HUMAN Homo sapiens ankyrin 2, neuronal (ANK2), transcript variant 1, mRNA. 2181 axon guidance|signal transduction apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere protein binding NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10) 248 Ovarian(17;0.0448)|Hepatocellular(203;0.218) OV - Ovarian serous cystadenocarcinoma(123;4.92e-05) AGCCGGCTCTCCGTGTGGCAG 0.517000 43 36 0 0 0.00128727 0 0 SCN1B 6324 broad.mit.edu 37 19 35530543 35530543 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:35530543G>A uc002nxp.3 + 4 728 c.595G>A c.(595-597)Gaa>Aaa p.E199K SCN1B_uc010xsg.2_Missense_Mutation_p.E128K|HPN_uc002nxq.2_5'Flank|HPN_uc002nxr.2_5'Flank NM_001037 NP_001028 Q07699 SCN1B_HUMAN Homo sapiens sodium channel, voltage-gated, type I, beta (SCN1B), transcript variant a, mRNA. 199 axon guidance|synaptic transmission integral to membrane voltage-gated sodium channel activity breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3) 11 all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0849) CCACAGCTCGGAATACCTGGC 0.622000 16 9 0 0 0.000673444 0 0 SERPINA5 5104 broad.mit.edu 37 14 95053780 95053780 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr14:95053780G>A uc001ydm.2 + 2 291 c.81G>A c.(79-81)atG>atA p.M27I SERPINA5_uc010ave.2_Missense_Mutation_p.M27I|SERPINA5_uc001ydn.1_Missense_Mutation_p.M27I NM_000624 NP_000615 P05154 IPSP_HUMAN Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5 (SERPINA5), mRNA. 27 fusion of sperm to egg plasma membrane|regulation of proteolysis|spermatogenesis extracellular region|membrane|protein complex acrosin binding|heparin binding|protease binding|serine-type endopeptidase inhibitor activity p.M27I(2) endometrium(3)|large_intestine(5)|lung(18)|ovary(2)|skin(5)|upper_aerodigestive_tract(3) 36 COAD - Colon adenocarcinoma(157;0.21) Drotrecogin alfa(DB00055)|Urokinase(DB00013) CCCGGGAGATGAAGAAGAGAG 0.612000 58 29 0 0 0.00127121 0 0 MICALL2 79778 broad.mit.edu 37 7 1482056 1482056 + Missense_Mutation SNP G A A rs148942886 TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr7:1482056G>A uc003skj.4 - 6 1630 c.1483C>T c.(1483-1485)Ccc>Tcc p.P495S MICALL2_uc003ski.4_5'UTR NM_182924 NP_891554 Q8IY33 MILK2_HUMAN Homo sapiens MICAL-like 2 (MICALL2), transcript variant 1, mRNA. 495 cytoplasm|cytoskeleton zinc ion binding breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(8)|ovary(2)|skin(2) 19 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;6.01e-15) TTGGCTAAGGGACTTGCTTGT 0.607000 168 87 0 0 0.00361006 0 0 SNAPC2 6618 broad.mit.edu 37 19 7987171 7987171 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:7987171G>A uc002miw.2 + 3 682 c.624G>A c.(622-624)aaG>aaA p.K208K SNAPC2_uc002mix.2_Non-coding_Transcript NM_003083 NP_003074 Q13487 SNPC2_HUMAN Homo sapiens small nuclear RNA activating complex, polypeptide 2, 45kDa (SNAPC2), transcript variant 1, mRNA. 208 snRNA transcription|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter nucleoplasm sequence-specific DNA binding transcription factor activity NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|urinary_tract(1) 6 ACTTTGAGAAGATCTACAAGT 0.592000 64 27 0 0 0.00178596 0 0 CR1L 1379 broad.mit.edu 37 1 207851592 207851592 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:207851592G>A uc001hga.4 + 2 448 c.327G>A c.(325-327)gtG>gtA p.V109V CR1L_uc001hfz.2_Non-coding_Transcript|CR1L_uc001hgb.1_Non-coding_Transcript NM_175710 NP_783641 Q2VPA4 CR1L_HUMAN Homo sapiens complement component (3b/4b) receptor 1-like (CR1L), mRNA. 109 Sushi 2. cytoplasm|extracellular region|membrane endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 22 TGGCACATGTGATCAAAGACA 0.388000 40 54 0 0 0.00361006 0 0 PAK1 5058 broad.mit.edu 37 11 77066759 77066759 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr11:77066759C>T uc001oyh.4 - 6 1259 c.726G>A c.(724-726)caG>caA p.Q242Q PAK1_uc010rso.2_Silent_p.Q144Q|PAK1_uc001oyg.4_Silent_p.Q242Q|PAK1_uc001oyi.1_Silent_p.Q242Q|PAK1_uc010rsn.2_Intron NM_002576 NP_002567 Q13153 PAK1_HUMAN Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 1 (PAK1), transcript variant 2, mRNA. 242 Interaction with CRIPAK. ER-nucleus signaling pathway|T cell costimulation|T cell receptor signaling pathway|apoptosis|axon guidance|cytoskeleton organization|positive regulation of JUN kinase activity|positive regulation of peptidyl-serine phosphorylation|protein autophosphorylation Golgi apparatus|cytosol|focal adhesion ATP binding|collagen binding|protein binding|protein serine/threonine kinase activity NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(13)|skin(2)|stomach(1) 29 all_cancers(14;1.75e-18) GCTTCTTCTTCTGCTTCTCAG 0.438000 55 69 0 0 0.00361006 0 0 ABCC10 89845 broad.mit.edu 37 6 43412958 43412958 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr6:43412958C>T uc003ouy.1 + 13 3151 c.2936C>T c.(2935-2937)tCc>tTc p.S979F ABCC10_uc003ouz.1_Missense_Mutation_p.S951F|ABCC10_uc010jyo.1_Missense_Mutation_p.S85F NM_001198934 NP_001185863 Q5T3U5 MRP7_HUMAN Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 10 (ABCC10), transcript variant MRP7, mRNA. 979 ABC transmembrane type-1 2. integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 56 all_lung(25;0.00536) Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804) GGTGTAAATTCCCTCTGCACC 0.587000 43 33 0 0 0.000814825 0 0 CLGN 1047 broad.mit.edu 37 4 141315165 141315165 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr4:141315165G>A uc011chi.2 - 11 1398 c.1180C>T c.(1180-1182)Cca>Tca p.P394S CLGN_uc003iii.3_Missense_Mutation_p.P394S NM_001130675 NP_004353 O14967 CLGN_HUMAN Homo sapiens calmegin (CLGN), transcript variant 2, mRNA. 394 protein folding endoplasmic reticulum membrane|integral to membrane calcium ion binding|unfolded protein binding breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(5)|ovary(2)|prostate(3)|skin(4)|urinary_tract(1) 25 all_hematologic(180;0.162) AAATAATCTGGATTAGGAATT 0.328000 21 13 0 0 0.00185496 0 0 C11orf80 79703 broad.mit.edu 37 11 66571646 66571646 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr11:66571646G>A uc021qmd.1 + 8 1030 c.1023G>A c.(1021-1023)agG>agA p.R341R C11orf80_uc010rpk.2_Silent_p.R176R NM_024650 NP_078926 Q8N6T0 CK080_HUMAN Homo sapiens chromosome 11 open reading frame 80 (C11orf80), mRNA. 186 autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|urinary_tract(1) 14 AGCTTAACAGGATTTCTTCAG 0.428000 21 17 0 0 0.000422831 0 0 SAMD9 54809 broad.mit.edu 37 7 92731876 92731876 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr7:92731876C>T uc003umf.3 - 2 3805 c.3535G>A c.(3535-3537)Gaa>Aaa p.E1179K SAMD9_uc003umg.3_Missense_Mutation_p.E1179K|SAMD9_uc022ahg.1_Missense_Mutation_p.E1179K NM_017654 NP_060124 Q5K651 SAMD9_HUMAN Homo sapiens sterile alpha motif domain containing 9 (SAMD9), transcript variant 1, mRNA. 1179 cytoplasm NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 88 all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125) STAD - Stomach adenocarcinoma(171;0.000302) TACAATCTTTCCTTCACTTCA 0.373000 66 179 0 0 0.00361006 0 0 SERPINA3 12 broad.mit.edu 37 14 95081243 95081243 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr14:95081243G>A uc001ydp.3 + 1 624 c.465G>A c.(463-465)gaG>gaA p.E155E SERPINA3_uc001ydo.4_Silent_p.E180E|SERPINA3_uc010avf.1_Non-coding_Transcript|SERPINA3_uc001ydr.3_Non-coding_Transcript|SERPINA3_uc021sbb.1_Intron|SERPINA3_uc010avg.3_Silent_p.E155E|SERPINA3_uc001yds.3_Silent_p.E155E NM_001085 NP_001076 P01011 AACT_HUMAN Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3 (SERPINA3), mRNA. 155 acute-phase response|maintenance of gastrointestinal epithelium|regulation of lipid metabolic process|regulation of proteolysis extracellular region|nucleus DNA binding|protein binding|serine-type endopeptidase inhibitor activity NS(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(17)|ovary(2)|pancreas(1)|skin(3)|stomach(1) 40 all_cancers(154;0.0525)|all_epithelial(191;0.179) COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228) GGTTCACGGAGGATGCCAAGA 0.522000 31 36 0 0 0.00283554 0 0 SCN1A 6323 broad.mit.edu 37 2 166901655 166901655 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:166901655G>A uc002udo.4 - 11 1787 c.1560C>T c.(1558-1560)ttC>ttT p.F520F SCN1A_uc010fpk.3_Silent_p.F520F|SCN1A_uc021vsb.1_Silent_p.F520F NM_001202435 NP_001189364 P35498 SCN1A_HUMAN Homo sapiens sodium channel, voltage-gated, type I, alpha subunit (SCN1A), transcript variant 4, mRNA. 520 voltage-gated sodium channel complex voltage-gated sodium channel activity NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1) 200 Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909) CAGATTTTTGGAATTCATCCT 0.438000 119 95 0 0 0.00361006 0 0 ARID1A 8289 broad.mit.edu 37 1 27100350 27100350 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:27100350C>T uc001bmv.1 + 16 4435 c.4062C>T c.(4060-4062)ttC>ttT p.F1354F ARID1A_uc001bmt.1_Silent_p.F1353F|ARID1A_uc001bmu.1_Silent_p.F1354F|ARID1A_uc001bmw.1_Silent_p.F971F|ARID1A_uc001bmx.1_Silent_p.F200F|ARID1A_uc009vsm.1_5'UTR|ARID1A_uc009vsn.1_5'Flank NM_006015 NP_006006 O14497 ARI1A_HUMAN Homo sapiens AT rich interactive domain 1A (SWI-like) (ARID1A), transcript variant 1, mRNA. 1354 Gln-rich. androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent SWI/SNF complex|nBAF complex|npBAF complex DNA binding|protein binding ARID1A/MAST2_ENST00000361297(2) NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24) 411 all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242) GCAGCCCCTTCCCCAGCCAGC 0.522000 """Mis, N, F, S, D""" """clear cell ovarian carcinoma, RCC""" 91 156 0 0 0.00361006 0 0 EPHB4 2050 broad.mit.edu 37 7 100417782 100417782 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr7:100417782G>A uc003uwn.1 - 4 1436 c.945C>T c.(943-945)ccC>ccT p.P315P EPHB4_uc003uwm.1_Silent_p.P222P|EPHB4_uc010lhj.1_Silent_p.P315P|EPHB4_uc011kkf.1_Silent_p.P315P|EPHB4_uc011kkg.1_Intron|EPHB4_uc011kkh.1_Silent_p.P315P NM_004444 NP_004435 P54760 EPHB4_HUMAN Homo sapiens EPH receptor B4 (EPHB4), mRNA. 315 Cys-rich. cell proliferation|organ morphogenesis|regulation of angiogenesis cell surface|integral to plasma membrane ATP binding|ephrin receptor activity breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3) 47 Lung NSC(181;0.041)|all_lung(186;0.0581) GTGCACCCCGGGGGTCTGTGC 0.637000 30 92 0 0 0.00361006 0 0 HCG27 253018 broad.mit.edu 37 6 31170627 31170627 + RNA SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr6:31170627C>T uc011dni.2 + 1 c.602C>T Homo sapiens HLA complex group 27 (non-protein coding) (HCG27), non-coding RNA. TGCCCCATCCCCAGGCTCTGG 0.532000 52 56 0 0 0.00361006 0 0 DNAH10 196385 broad.mit.edu 37 12 124270395 124270395 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr12:124270395G>A uc001uft.4 + 8 1175 c.1150G>A c.(1150-1152)Gac>Aac p.D384N NM_207437 NP_997320 Q8IVF4 DYH10_HUMAN Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA. 384 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346) CTACAACAAAGACGAGAGGAT 0.562000 29 47 0 0 0.00361006 0 0 FAM125B 89853 broad.mit.edu 37 9 129154430 129154430 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr9:129154430C>T uc004bqh.2 + 4 581 c.495C>T c.(493-495)atC>atT p.I165I FAM125B_uc004bqg.2_Silent_p.I165I|FAM125B_uc011lzy.2_Silent_p.I150I|FAM125B_uc010mxd.3_Silent_p.I158I|FAM125B_uc011lzz.1_Silent_p.I158I NM_033446 NP_258257 Q9H7P6 F125B_HUMAN Homo sapiens family with sequence similarity 125, member B (FAM125B), transcript variant 1, mRNA. 165 MABP. protein transport late endosome membrane p.R164L(1) kidney(1)|large_intestine(4)|lung(4)|urinary_tract(1) 10 ACATTCGGATCATGGGCCGGA 0.502000 10 72 0 0 0.00361006 0 0 ATP1A3 478 broad.mit.edu 37 19 42474558 42474558 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:42474558G>A uc002osh.3 - 16 2554 c.2400C>T c.(2398-2400)atC>atT p.I800I ATP1A3_uc010xwf.2_Silent_p.I811I|ATP1A3_uc010xwg.2_Silent_p.I770I|ATP1A3_uc002osg.3_Silent_p.I800I|ATP1A3_uc010xwh.2_Silent_p.I813I P13637 AT1A3_HUMAN Homo sapiens ATPase, Na+/K+ transporting, alpha 3 polypeptide (ATP1A3), transcript variant 1, mRNA. 800 ATP biosynthetic process Golgi apparatus|endoplasmic reticulum ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 52 TGCCCAGATCGATGCAGAGGA 0.647000 14 15 0 0 0.000422831 0 0 TBX2 6909 broad.mit.edu 37 17 59481989 59481989 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr17:59481989C>T uc010wox.2 + 4 1191 c.910C>T c.(910-912)Cta>Tta p.L304L TBX2_uc002ize.3_Silent_p.L294L|TBX2_uc002izg.3_Silent_p.L150L NM_005994 NP_005985 Q13207 TBX2_HUMAN Homo sapiens T-box 2 (TBX2), mRNA. 304 cell aging|positive regulation of cell proliferation sequence-specific DNA binding endometrium(1)|lung(7)|ovary(1) 9 GCTGCCGTCTCTACGCTTGTA 0.697000 8 5 0 0 0.00198382 0 0 PPM1H 57460 broad.mit.edu 37 12 63195772 63195772 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr12:63195772C>T uc001srk.3 - 2 729 c.580G>A c.(580-582)Gag>Aag p.E194K NM_020700 NP_065751 Q9ULR3 PPM1H_HUMAN Homo sapiens protein phosphatase, Mg2+/Mn2+ dependent, 1H (PPM1H), mRNA. 194 PP2C-like. phosphoprotein phosphatase activity breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1) 18 GBM - Glioblastoma multiforme(1;0.000443)|BRCA - Breast invasive adenocarcinoma(9;0.209) GBM - Glioblastoma multiforme(28;0.0126) TCAGGCTCCTCCCCCAGGCAG 0.716000 57 28 0 0 0.00209593 0 0 CACNA1S 779 broad.mit.edu 37 1 201060870 201060870 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:201060870G>A uc001gvv.3 - 4 819 c.592C>T c.(592-594)Cac>Tac p.H198Y NM_000069 NP_000060 Q13698 CAC1S_HUMAN Homo sapiens calcium channel, voltage-dependent, L type, alpha 1S subunit (CACNA1S), mRNA. 198 axon guidance I band|T-tubule|voltage-gated calcium channel complex high voltage-gated calcium channel activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 102 Magnesium Sulfate(DB00653)|Verapamil(DB00661) AGGGCGATGTGAAAGAGGGGG 0.552000 20 11 0 0 0.00136819 0 0 C15orf55 256646 broad.mit.edu 37 15 34640841 34640841 + Nonsense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr15:34640841C>T uc010ucc.2 + 2 1154 c.772C>T c.(772-774)Cag>Tag p.Q258* C15orf55_uc010ucd.2_Nonsense_Mutation_p.Q248*|C15orf55_uc001zif.3_Nonsense_Mutation_p.Q230* NM_175741 NP_786883 Q86Y26 NUT_HUMAN Homo sapiens chromosome 15 open reading frame 55 (C15orf55), mRNA. 230 cytoplasm|nucleus BRD4_ENST00000263377/C15orf55(24)|BRD3/C15orf55(3) large_intestine(2)|ovary(3)|skin(2) 7 all_lung(180;2.78e-08) all cancers(64;4.53e-18)|GBM - Glioblastoma multiforme(113;8.29e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0249) GCACCTATCCCAGAGTCCTGA 0.483000 T """BRD3, BRD4""" lethal midline carcinoma 51 41 0 0 0.00321405 0 0 CACNA1G 8913 broad.mit.edu 37 17 48668851 48668851 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr17:48668851C>T uc002irk.1 + 10 2881 c.2509C>T c.(2509-2511)Cgc>Tgc p.R837C CACNA1G_uc002iri.1_Missense_Mutation_p.R837C|CACNA1G_uc002irj.1_Missense_Mutation_p.R837C|CACNA1G_uc002irl.1_Missense_Mutation_p.R837C|CACNA1G_uc002irm.1_Missense_Mutation_p.R837C|CACNA1G_uc002irn.1_Missense_Mutation_p.R837C|CACNA1G_uc002iro.1_Missense_Mutation_p.R837C|CACNA1G_uc002irp.1_Missense_Mutation_p.R837C|CACNA1G_uc002irq.1_Missense_Mutation_p.R837C|CACNA1G_uc002irr.1_Missense_Mutation_p.R837C|CACNA1G_uc002irs.1_Missense_Mutation_p.R837C|CACNA1G_uc002irt.1_Missense_Mutation_p.R837C|CACNA1G_uc002iru.1_Missense_Mutation_p.R837C|CACNA1G_uc002irv.1_Missense_Mutation_p.R837C|CACNA1G_uc002irw.1_Missense_Mutation_p.R837C|CACNA1G_uc002irx.1_Missense_Mutation_p.R750C|CACNA1G_uc002iry.1_Missense_Mutation_p.R750C|CACNA1G_uc002isg.1_Missense_Mutation_p.R750C|CACNA1G_uc002ish.1_Missense_Mutation_p.R750C|CACNA1G_uc002isi.1_Missense_Mutation_p.R750C|CACNA1G_uc002irz.1_Missense_Mutation_p.R750C|CACNA1G_uc002isa.1_Missense_Mutation_p.R750C|CACNA1G_uc002isd.1_Missense_Mutation_p.R750C|CACNA1G_uc002isb.1_Missense_Mutation_p.R750C|CACNA1G_uc002isc.1_Missense_Mutation_p.R750C|CACNA1G_uc002ise.1_Missense_Mutation_p.R750C|CACNA1G_uc002isf.1_Missense_Mutation_p.R750C NM_018896 NP_061496 O43497 CAC1G_HUMAN Homo sapiens calcium channel, voltage-dependent, T type, alpha 1G subunit (CACNA1G), transcript variant 1, mRNA. 837 axon guidance voltage-gated calcium channel complex low voltage-gated calcium channel activity breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23) 47 Breast(11;6.7e-17) BRCA - Breast invasive adenocarcinoma(22;7.52e-09) Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909) GCGGACCTTCCGCCTGATGCG 0.672000 6 7 0 0 0.00198382 0 0 IL21R 50615 broad.mit.edu 37 16 27460449 27460449 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr16:27460449G>A uc002dor.2 + 9 2076 c.1528G>A c.(1528-1530)Gac>Aac p.D510N IL21R_uc002doq.2_Missense_Mutation_p.D488N|IL21R_uc002dos.2_Missense_Mutation_p.D488N|LOC283888_uc002dot.3_Non-coding_Transcript NM_181079 NP_851565 Q9HBE5 IL21R_HUMAN Homo sapiens interleukin 21 receptor (IL21R), transcript variant 3, mRNA. 488 natural killer cell activation integral to membrane interleukin-21 receptor activity breast(2)|large_intestine(3)|lung(1)|ovary(2) 8 CCTGGATATGGACACGTTTGA 0.672000 T BCL6 NHL 38 14 0 0 0.00316338 0 0 PASD1 139135 broad.mit.edu 37 X 150832763 150832763 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chrX:150832763G>A uc004fev.4 + 10 1346 c.1014G>A c.(1012-1014)atG>atA p.M338I NM_173493 NP_775764 Q8IV76 PASD1_HUMAN Homo sapiens PAS domain containing 1 (PASD1), mRNA. 338 nucleus signal transducer activity breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 48 Acute lymphoblastic leukemia(192;6.56e-05) CAGGCCTGATGGATCCAGTGG 0.597000 0 24 0 0 0.00395357 0 0 TMEM74 157753 broad.mit.edu 37 8 109796737 109796737 + Silent SNP G A A rs139123399 TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr8:109796737G>A uc003ymy.1 - 1 696 c.591C>T c.(589-591)atC>atT p.I197I TMEM74_uc003ymx.3_Intron|TMEM74_uc022azr.1_Silent_p.I197I NM_153015 NP_694560 Q96NL1 TMM74_HUMAN Homo sapiens transmembrane protein 74 (TMEM74), mRNA. 197 autophagy autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane|lysosomal membrane breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1) 29 OV - Ovarian serous cystadenocarcinoma(57;3.08e-10) CCCGTGGGACGATGTAAGAGA 0.572000 71 30 0 0 0.00178596 0 0 KRT10 3858 broad.mit.edu 37 17 38975396 38975396 + Missense_Mutation SNP C A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr17:38975396C>A uc002hvi.3 - 6 1417 c.1391G>T c.(1390-1392)cGc>cTc p.R464L TMEM99_uc021txc.1_5'UTR|TMEM99_uc002hvj.1_5'UTR|TMEM99_uc021txd.1_5'Flank NM_000421 NP_000412 P13645 K1C10_HUMAN Homo sapiens keratin 10 (KRT10), mRNA. 464 Gly-rich.|Tail. epidermis development protein binding|structural constituent of epidermis NS(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1) 11 Breast(137;0.000301) tccgccgccgcgtccgccgcc 0.657000 6 7 2.0095e-06 5.82376e-06 0.00198382 1 0 COL22A1 169044 broad.mit.edu 37 8 139729076 139729076 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr8:139729076C>T uc003yvd.3 - 27 2839 c.2392G>A c.(2392-2394)Gga>Aga p.G798R COL22A1_uc011ljo.2_Missense_Mutation_p.G98R NM_152888 NP_690848 Q8NFW1 COMA1_HUMAN Homo sapiens collagen, type XXII, alpha 1 (COL22A1), mRNA. 798 Collagen-like 6.|Gly-rich.|Pro-rich. cell adhesion collagen|cytoplasm structural molecule activity p.P797H(1) breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4) 211 all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0517) ACCTTCTCTCCAGGTCGGCCT 0.383000 HNSCC(7;0.00092) 35 57 0 0 0.00361006 0 0 FMO3 2328 broad.mit.edu 37 1 171073016 171073016 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:171073016C>T uc001ghi.3 + 2 334 c.223C>T c.(223-225)Ccc>Tcc p.P75S FMO3_uc001ghh.3_Missense_Mutation_p.P75S|FMO3_uc010pmb.2_Missense_Mutation_p.P55S|FMO3_uc010pmc.2_Intron|MIR1295A_uc021pes.1_5'Flank NM_001002294 NP_008825 P31513 FMO3_HUMAN Homo sapiens flavin containing monooxygenase 3 (FMO3), transcript variant 2, mRNA. 75 xenobiotic metabolic process integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome flavin adenine dinucleotide binding|flavin-containing monooxygenase activity endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2) 31 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) CTTCCCATTTCCCGATGACTT 0.423000 52 20 0 0 0.00188189 0 0 CNTRL 11064 broad.mit.edu 37 9 123914842 123914842 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr9:123914842C>T uc004bkx.1 + 23 4074 c.4043C>T c.(4042-4044)tCc>tTc p.S1348F CNTRL_uc004bla.1_Missense_Mutation_p.S796F|CNTRL_uc010mvo.1_Missense_Mutation_p.S17F|CNTRL_uc004blb.1_Missense_Mutation_p.S17F NM_007018 NP_008949 Q7Z7A1 CNTRL_HUMAN Homo sapiens centriolin (CNTRL), mRNA. 1348 G2/M transition of mitotic cell cycle|cell division centrosome|cytosol protein binding haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3) 20 ATGAGAGCATCCAAGCGGCAG 0.373000 9 51 0 0 0.00361006 0 0 RGS19 10287 broad.mit.edu 37 20 62705292 62705292 + Silent SNP G T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr20:62705292G>T uc002yhy.3 - 5 835 c.568C>A c.(568-570)Cgg>Agg p.R190R RGS19_uc002yhz.3_Silent_p.R168R|RGS19_uc002yib.3_Silent_p.R190R NM_005873 NP_001034556 P49795 RGS19_HUMAN Homo sapiens regulator of G-protein signaling 19 (RGS19), transcript variant 1, mRNA. 190 RGS. G-protein coupled receptor protein signaling pathway|autophagy|negative regulation of signal transduction|small GTPase mediated signal transduction Golgi apparatus|membrane fraction|plasma membrane GTPase activator activity|protein binding|signal transducer activity lung(1)|prostate(1)|skin(1) 3 all_cancers(38;3.45e-11)|all_epithelial(29;9.12e-13)|Lung NSC(23;2e-09)|all_lung(23;6.77e-09) TAGGAGTCCCGGTGCATGAGC 0.662000 132 6 1.12685e-05 3.26295e-05 0.000274275 1 0 SOX10 6663 broad.mit.edu 37 22 38370153 38370153 + Missense_Mutation SNP C A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr22:38370153C>A uc003aun.1 - 3 1028 c.750G>T c.(748-750)caG>caT p.Q250H AK098727_uc003aum.3_Intron|SOX10_uc003auo.1_Missense_Mutation_p.Q250H NM_006941 NP_008872 P56693 SOX10_HUMAN Homo sapiens SRY (sex determining region Y)-box 10 (SOX10), mRNA. 250 cytoplasm|nucleus DNA binding|identical protein binding|transcription coactivator activity NS(6)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|skin(2) 20 Melanoma(58;0.045) CCTTGCCCGACTGCAGCTCTG 0.647000 168 99 4.58075e-42 1.34716e-41 0.00361006 1 0 NLRP10 338322 broad.mit.edu 37 11 7981867 7981867 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr11:7981867G>A uc001mfv.1 - 1 1309 c.1292C>T c.(1291-1293)gCt>gTt p.A431V NM_176821 NP_789791 Q86W26 NAL10_HUMAN Homo sapiens NLR family, pyrin domain containing 10 (NLRP10), mRNA. 431 NACHT. ATP binding breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189) CCTGAGCTCAGCTTCTTCAAA 0.527000 38 30 0 0 0.00283554 0 0 TMEM178 130733 broad.mit.edu 37 2 39944248 39944248 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:39944248G>A uc002rrt.3 + 3 831 c.751G>A c.(751-753)Gaa>Aaa p.E251K TMEM178_uc021vgg.1_Missense_Mutation_p.E69K|TMEM178_uc010fam.2_Missense_Mutation_p.E205K NM_152390 NP_689603 Q8NBL3 TM178_HUMAN Homo sapiens transmembrane protein 178 (TMEM178), transcript variant 1, mRNA. 251 integral to membrane endometrium(1)|large_intestine(5)|lung(5) 11 all_hematologic(82;0.248) TGCTGATGTGGAACATGGTTA 0.483000 118 58 0 0 0.00361006 0 0 CHRM2 1129 broad.mit.edu 37 7 136700447 136700447 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr7:136700447G>A uc003vtf.1 + 3 1458 c.835G>A c.(835-837)Gag>Aag p.E279K CHRM2_uc003vtg.1_Missense_Mutation_p.E279K|CHRM2_uc003vti.1_Missense_Mutation_p.E279K|CHRM2_uc003vtm.1_Missense_Mutation_p.E279K|CHRM2_uc003vtj.1_Missense_Mutation_p.E279K|CHRM2_uc003vtk.1_Missense_Mutation_p.E279K|CHRM2_uc003vtl.1_Missense_Mutation_p.E279K|CHRM2_uc003vtn.1_Missense_Mutation_p.E279K|CHRM2_uc003vto.1_Missense_Mutation_p.E279K|AK097470_uc003vtp.1_Intron|CHRM2_uc022ame.1_Missense_Mutation_p.E279K NM_001006630 NP_001006633 P08172 ACM2_HUMAN Homo sapiens cholinergic receptor, muscarinic 2 (CHRM2), transcript variant 1, mRNA. 279 G-protein signaling, coupled to cAMP nucleotide second messenger|activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|nervous system development|regulation of heart contraction|response to virus cell junction|integral to plasma membrane|postsynaptic membrane muscarinic acetylcholine receptor activity|protein binding central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 68 Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508) TCAGGGAGAGGAGAAGGAGAG 0.488000 57 18 0 0 0.000958276 0 0 PTTG2 10744 broad.mit.edu 37 4 37962567 37962567 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr4:37962567C>T uc011bye.2 + 0 512 c.512C>T c.(511-513)tCt>tTt p.S171F TBC1D1_uc003gtb.3_Intron|TBC1D1_uc011byd.2_Intron|TBC1D1_uc010ifd.3_Intron NM_006607 NP_006598 Q9NZH5 PTTG2_HUMAN Homo sapiens pituitary tumor-transforming 2 (PTTG2), mRNA. 171 DNA metabolic process|chromosome organization cytoplasm|nucleus SH3 domain binding breast(1)|endometrium(1)|lung(4)|skin(1) 7 AAAATGCCCTCTCCACCATGG 0.488000 91 80 0 0 0.00361006 0 0 SNTG2 54221 broad.mit.edu 37 2 1168827 1168827 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:1168827C>T uc002qwq.3 + 7 678 c.549C>T c.(547-549)ctC>ctT p.L183L SNTG2_uc010ewi.3_Intron NM_018968 NP_061841 Q9NY99 SNTG2_HUMAN Homo sapiens syntrophin, gamma 2 (SNTG2), mRNA. 183 central nervous system development cytoplasm|cytoskeleton|sarcolemma|syntrophin complex PDZ domain binding|actin binding p.L183L(2) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 52 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.00469) all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173) CCTCTCCCCTCTTTGACAGCG 0.478000 65 86 0 0 0.00361006 0 0 GPR116 221395 broad.mit.edu 37 6 46851850 46851850 + Missense_Mutation SNP A C C TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr6:46851850A>C uc003oyo.3 - 4 776 c.487T>G c.(487-489)Ttt>Gtt p.F163V GPR116_uc003oyp.3_Missense_Mutation_p.F163V|GPR116_uc003oyq.3_Missense_Mutation_p.F163V|GPR116_uc003oyr.2_Missense_Mutation_p.F163V NM_001098518 NP_056049 Q8IZF2 GP116_HUMAN Homo sapiens G protein-coupled receptor 116 (GPR116), transcript variant 2, mRNA. 163 SEA. neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 59 Lung(136;0.192) AGCAGGCAAAAAGGTCCATTG 0.478000 98 53 0 0 0.00361006 0 0 TRIM25 7706 broad.mit.edu 37 17 54969117 54969117 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr17:54969117G>A uc002iut.3 - 8 1897 c.1837C>T c.(1837-1839)Ccg>Tcg p.P613S TRIM25_uc010dcj.3_Missense_Mutation_p.P405S|TRIM25_uc021uaj.1_5'Flank NM_005082 NP_005073 Q14258 TRI25_HUMAN Homo sapiens tripartite motif containing 25 (TRIM25), mRNA. 613 B30.2/SPRY. innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|response to virus cell junction|cytosol|nucleus sequence-specific DNA binding transcription factor activity|ubiquitin-protein ligase activity|zinc ion binding breast(2)|endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 Breast(9;6.15e-08) CAGAAAGCCGGGTACAAAGCC 0.537000 20 6 0 0 0.00116845 0 0 SLC1A6 6511 broad.mit.edu 37 19 15067385 15067385 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:15067385G>A uc002naa.1 - 5 1079 c.1072C>T c.(1072-1074)Ctt>Ttt p.L358F SLC1A6_uc010dzu.1_Intron|SLC1A6_uc010xod.1_Missense_Mutation_p.L294F NM_005071 NP_005062 P48664 EAA4_HUMAN Homo sapiens solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6 (SLC1A6), mRNA. 358 synaptic transmission integral to plasma membrane|membrane fraction L-aspartate transmembrane transporter activity|high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 42 L-Glutamic Acid(DB00142) ATGAGGGGAAGGACAATGCCG 0.587000 15 7 0 0 0.00307968 0 0 CLCN1 1180 broad.mit.edu 37 7 143044022 143044022 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr7:143044022G>A uc003wcr.1 + 19 2470 c.2383G>A c.(2383-2385)Gat>Aat p.D795N CLCN1_uc011ktc.1_Missense_Mutation_p.D407N NM_000083 NP_000074 P35523 CLCN1_HUMAN Homo sapiens chloride channel 1, skeletal muscle (CLCN1), mRNA. 795 muscle contraction chloride channel complex|integral to plasma membrane voltage-gated chloride channel activity breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2) 58 Melanoma(164;0.205) AGATTTAGTGGATAACATGTC 0.398000 35 85 0 0 0.00361006 0 0 FMO1 2326 broad.mit.edu 37 1 171251243 171251243 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:171251243G>A uc009wvz.3 + 6 1090 c.954G>A c.(952-954)aaG>aaA p.K318K FMO1_uc010pme.2_Silent_p.K255K|FMO1_uc001ghl.3_Silent_p.K318K|FMO1_uc001ghm.3_Silent_p.K318K NM_002021 NP_002012 Q01740 FMO1_HUMAN Homo sapiens flavin containing monooxygenase 1 (FMO1), mRNA. 318 NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process endoplasmic reticulum lumen|integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome NADP binding|flavin adenine dinucleotide binding|flavin-containing monooxygenase activity NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(2)|skin(2) 27 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) ATACTTCAAAGGAAGAGCCTA 0.433000 55 25 0 0 0.00332997 0 0 KIAA0753 9851 broad.mit.edu 37 17 6511754 6511755 + Missense_Mutation DNP GG TT TT TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr17:6511754_6511755GG>TT uc002gde.4 - 9 2101_2102 c.1742_1743CC>AA c.(1741-1743)ccc>cAA p.P581Q KIAA0753_uc010vtd.2_Missense_Mutation_p.P37Q|KIAA0753_uc010clo.3_Missense_Mutation_p.P282Q|KIAA0753_uc010vte.2_Missense_Mutation_p.P282Q NM_014804 NP_055619 Q2KHM9 K0753_HUMAN Homo sapiens KIAA0753 (KIAA0753), mRNA. 581 centrosome endometrium(4)|large_intestine(11)|lung(5)|prostate(4) 24 COAD - Colon adenocarcinoma(228;0.157) TGGCATCTCTGGGGCTAGTTTT 0.470000 579 14 0 0 6.4e-05 0 0 KIAA1324 57535 broad.mit.edu 37 1 109735476 109735476 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:109735476C>T uc021orb.1 + 13 2148 c.1927C>T c.(1927-1929)Cca>Tca p.P643S KIAA1324_uc009wex.2_Missense_Mutation_p.P593S|KIAA1324_uc010ovg.2_Missense_Mutation_p.P541S|KIAA1324_uc009wey.3_Missense_Mutation_p.P556S|KIAA1324_uc001dwr.3_Missense_Mutation_p.P293S NM_020775 NP_065826 Q6UXG2 K1324_HUMAN Homo sapiens KIAA1324 (KIAA1324), mRNA. 643 macroautophagy|positive regulation of vacuole organization|regulation of apoptosis integral to plasma membrane NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 34 all_epithelial(167;0.000102)|all_lung(203;0.000323)|Lung NSC(277;0.00063) Colorectal(144;0.0188)|Lung(183;0.0527)|COAD - Colon adenocarcinoma(174;0.14)|Epithelial(280;0.21)|all cancers(265;0.249) GCCCTGTGGTCCAGGGACCAA 0.537000 93 150 0 0 0.00361006 0 0 ECT2 1894 broad.mit.edu 37 3 172482202 172482202 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr3:172482202C>T uc003fii.2 + 10 1248 c.1110C>T c.(1108-1110)ccC>ccT p.P370P ECT2_uc010hwv.1_Silent_p.P401P|ECT2_uc003fih.2_Silent_p.P369P|ECT2_uc003fij.1_Silent_p.P370P|ECT2_uc003fik.1_Silent_p.P370P|ECT2_uc003fil.1_Silent_p.P401P NM_018098 NP_060568 Q9H8V3 ECT2_HUMAN Homo sapiens epithelial cell transforming sequence 2 oncogene (ECT2), mRNA. 370 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol Rho guanyl-nucleotide exchange factor activity|signal transducer activity breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 Ovarian(172;0.00197)|Breast(254;0.158) Lung(28;1.33e-14)|LUSC - Lung squamous cell carcinoma(14;1.48e-14) CATTTCCACCCCGTAAGCGCC 0.453000 53 33 0 0 0.00283554 0 0 CSMD2 114784 broad.mit.edu 37 1 34174710 34174710 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:34174710G>A uc001bxm.1 - 21 3732 c.3555C>T c.(3553-3555)ctC>ctT p.L1185L CSMD2_uc001bxn.1_Silent_p.L1145L|CSMD2_uc001bxo.1_Silent_p.L58L NM_052896 NP_443128 Q7Z408 CSMD2_HUMAN Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA. 1145 CUB 7. integral to membrane|plasma membrane protein binding NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1) 246 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) CTCCTTCGGAGAGTTCGAATG 0.433000 44 74 0 0 0.00361006 0 0 N4BP2L2 10443 broad.mit.edu 37 13 33016764 33016764 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr13:33016764G>A uc010abe.1 - 6 1932 c.1910C>T c.(1909-1911)tCt>tTt p.S637F N4BP2L2_uc001uug.2_Missense_Mutation_p.S520F|N4BP2L2_uc010abd.1_Missense_Mutation_p.S550F|N4BP2L2_uc001uuh.2_Missense_Mutation_p.S468F|N4BP2L2_uc001uuj.2_Intron|N4BP2L2_uc010tdz.1_Missense_Mutation_p.S622F NM_033111 NP_149102 Q92802 N42L2_HUMAN Homo sapiens NEDD4 binding protein 2-like 2 (N4BP2L2), transcript variant 1, mRNA. 0 kidney(4)|large_intestine(3)|liver(1)|lung(6)|skin(1)|urinary_tract(1) 16 Lung SC(185;0.0262) all cancers(112;9.5e-07)|Epithelial(112;5.07e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00196)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.243) AATTTCTGGAGAAATAAACCC 0.333000 15 32 0 0 0.0024448 0 0 COL27A1 85301 broad.mit.edu 37 9 117051536 117051536 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr9:117051536C>T uc011lxl.2 + 44 4167 c.4167C>T c.(4165-4167)ccC>ccT p.P1389P COL27A1_uc004bii.3_Non-coding_Transcript NM_032888 NP_116277 Q8IZC6 CORA1_HUMAN Homo sapiens collagen, type XXVII, alpha 1 (COL27A1), mRNA. 1389 Collagen-like 13.|Pro-rich.|Triple-helical region. cell adhesion extracellular matrix structural constituent central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3) 80 ATCCGGGACCCCGGGGGTGGC 0.677000 2 7 0 0 0.000274275 0 0 ELOVL7 79993 broad.mit.edu 37 5 60053414 60053414 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr5:60053414G>A uc003jsi.4 - 7 758 c.558C>T c.(556-558)tcC>tcT p.S186S ELOVL7_uc011cqo.2_Silent_p.S99S|ELOVL7_uc010iwk.3_Silent_p.S186S|ELOVL7_uc003jsj.4_Silent_p.S173S NM_024930 NP_079206 A1L3X0 ELOV7_HUMAN Homo sapiens ELOVL fatty acid elongase 7 (ELOVL7), transcript variant 1, mRNA. 186 fatty acid elongation, polyunsaturated fatty acid|fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process endoplasmic reticulum membrane|integral to membrane fatty acid elongase activity|protein binding endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(1) 9 Lung NSC(810;2.56e-06)|Prostate(74;0.0115)|Breast(144;0.0244)|Ovarian(174;0.0481) GTCCATAGTAGGAATACATGA 0.373000 31 24 0 0 0.00332997 0 0 PHF8 23133 broad.mit.edu 37 X 53966798 53966798 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chrX:53966798G>A uc004dsu.3 - 20 3155 c.2909C>T c.(2908-2910)cCc>cTc p.P970L PHF8_uc004dsv.3_Missense_Mutation_p.P800L|PHF8_uc004dst.3_Missense_Mutation_p.P934L|PHF8_uc004dsw.3_Missense_Mutation_p.P833L NM_001184896 NP_055922 Q9UPP1 PHF8_HUMAN Homo sapiens PHD finger protein 8 (PHF8), transcript variant 1, mRNA. 970 G1/S transition of mitotic cell cycle|brain development|negative regulation of chromatin silencing at rDNA|positive regulation of transcription from RNA polymerase I promoter|transcription, DNA-dependent nucleolus chromatin binding|histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 40 AGGAGGCAGGGGTGAGGAGGA 0.582000 0 10 0 0 0.000978159 0 0 EEFSEC 60678 broad.mit.edu 37 3 128060522 128060522 + Nonsense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr3:128060522G>A uc003eki.3 + 4 1271 c.1233G>A c.(1231-1233)tgG>tgA p.W411* NM_021937 NP_068756 P57772 SELB_HUMAN Homo sapiens eukaryotic elongation factor, selenocysteine-tRNA-specific (EEFSEC), mRNA. 411 cytoplasm|nucleus GTP binding|GTPase activity|translation elongation factor activity NS(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(10)|ovary(1) 25 GGCAGCAGTGGGCCCTGGTGG 0.602000 38 37 0 0 0.00111076 0 0 LSM14B 149986 broad.mit.edu 37 20 60701392 60701392 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr20:60701392C>T uc010gjy.1 + 2 530 c.324C>T c.(322-324)ttC>ttT p.F108F LSM14B_uc002ybt.2_Silent_p.F108F|LSM14B_uc010gjx.1_Silent_p.F134F|LSM14B_uc010gjz.1_5'UTR|LSM14B_uc010zzz.1_5'UTR NM_144703 NP_653304 Q9BX40 LS14B_HUMAN Homo sapiens LSM14B, SCD6 homolog B (S. cerevisiae) (LSM14B), mRNA. 108 multicellular organismal development|regulation of translation ribonucleoprotein complex endometrium(3)|kidney(1)|lung(4) 8 Breast(26;3.97e-09) BRCA - Breast invasive adenocarcinoma(19;1.28e-07) CCTCGCCCTTCCAGCCGCACG 0.672000 46 24 0 0 0.001512 0 0 CEP120 153241 broad.mit.edu 37 5 122758678 122758678 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr5:122758678G>A uc003ktk.3 - 1 131 c.15C>T c.(13-15)tcC>tcT p.S5S CEP120_uc010jcz.2_Intron|CEP120_uc011cwq.2_5'UTR NM_153223 NP_001159698 Q8N960 CE120_HUMAN Homo sapiens centrosomal protein 120kDa (CEP120), transcript variant 1, mRNA. 5 centrosome breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 29 GCAATTGGTCGGATTTGGAGA 0.607000 45 64 0 0 0.00361006 0 0 FCRL5 83416 broad.mit.edu 37 1 157514299 157514299 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:157514299G>A uc009wsm.3 - 4 755 c.597C>T c.(595-597)ttC>ttT p.F199F FCRL5_uc001fqu.3_Silent_p.F199F|FCRL5_uc010phv.1_Silent_p.F199F|FCRL5_uc010phw.1_Silent_p.F114F|FCRL5_uc001fqv.1_Silent_p.F199F|FCRL5_uc010phx.2_5'UTR NM_001195388 NP_001182317 Q96RD9 FCRL5_HUMAN Homo sapiens Fc receptor-like 5 (FCRL5), transcript variant 2, mRNA. 199 Ig-like C2-type 2. integral to membrane|plasma membrane receptor activity breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 85 all_hematologic(112;0.0378)|Hepatocellular(266;0.178) Prostate(1639;0.231) TGATGGGCTGGAAGGAGCTGG 0.552000 37 67 0 0 0.00361006 0 0 TMEM174 134288 broad.mit.edu 37 5 72469311 72469311 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr5:72469311G>A uc010izc.3 + 0 289 c.241G>A c.(241-243)Gtt>Att p.V81I NM_153217 NP_694949 Q8WUU8 TM174_HUMAN Homo sapiens transmembrane protein 174 (TMEM174), mRNA. 81 integral to membrane endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1) 7 Lung NSC(167;0.0378)|Ovarian(174;0.0908)|Prostate(461;0.165) OV - Ovarian serous cystadenocarcinoma(47;1.46e-54) CCTGCTGTCAGTTGGGGTGAC 0.532000 64 52 0 0 0.00361006 0 0 OR5M1 390168 broad.mit.edu 37 11 56380885 56380885 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr11:56380885G>A uc001nja.1 - 0 94 c.94C>T c.(94-96)Ctt>Ttt p.L32F OR8U8_uc001nit.2_Intron NM_001004740 NP_001004740 Q8NGP8 OR5M1_HUMAN Homo sapiens olfactory receptor, family 5, subfamily M, member 1 (OR5M1), mRNA. 32 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|upper_aerodigestive_tract(1) 12 TAGATCGCAAGGAATACCCCA 0.483000 62 24 0 0 0.000720815 0 0 RTEL1 51750 broad.mit.edu 37 20 62316898 62316898 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr20:62316898C>T uc021wge.1 + 13 1384 c.1214C>T c.(1213-1215)tCc>tTc p.S405F RTEL1_uc011abc.2_Non-coding_Transcript|RTEL1_uc002yfu.2_Missense_Mutation_p.S405F|RTEL1_uc011abd.2_Missense_Mutation_p.S429F|RTEL1_uc002yfw.3_Non-coding_Transcript|RTEL1_uc011abe.1_Missense_Mutation_p.S182F NM_016434 NP_057518 Q9NZ71 RTEL1_HUMAN Homo sapiens regulator of telomere elongation helicase 1 (RTEL1), transcript variant 1, mRNA. 405 DNA repair|regulation of double-strand break repair via homologous recombination|telomere maintenance nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13) Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107) GTGGACCCCTCCGAGGGCAGC 0.632000 39 20 0 0 0.00278032 0 0 BRD8 10902 broad.mit.edu 37 5 137481567 137481567 + Splice_Site SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr5:137481567C>T uc003lcf.1 - 24 3334 c.3279_splice c.e24-1 p.L1093_splice NM_139199 NP_631938 Q9H0E9 BRD8_HUMAN Homo sapiens bromodomain containing 8 (BRD8), transcript variant 2, mRNA. 1093 cell surface receptor linked signaling pathway|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription from RNA polymerase II promoter NuA4 histone acetyltransferase complex|mitochondrion sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(3)|urinary_tract(1) 35 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109) TTAGATCAGTCCTATGAGGAT 0.418000 33 41 0 0 0.00195071 0 0 ABCC3 8714 broad.mit.edu 37 17 48735797 48735797 + Splice_Site SNP A G G TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr17:48735797A>G uc002isl.3 + 6 693 c.613_splice c.e6-1 p.N205_splice ABCC3_uc002isk.4_Splice_Site_p.N205_splice NM_003786 NP_003777 O15438 MRP3_HUMAN Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 3 (ABCC3), transcript variant 1, mRNA. 205 bile acid metabolic process integral to plasma membrane|membrane fraction ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 33 BRCA - Breast invasive adenocarcinoma(22;3.05e-09) Glibenclamide(DB01016) GCCTTCTAGAACCCCTACCCT 0.582000 47 56 0 0 0.00361006 0 0 OR52K2 119774 broad.mit.edu 37 11 4471211 4471211 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr11:4471211C>T uc001lyz.2 + 0 687 c.642C>T c.(640-642)ctC>ctT p.L214L NM_001005172 NP_001005172 Q8NGK3 O52K2_HUMAN Homo sapiens olfactory receptor, family 52, subfamily K, member 2 (OR52K2), mRNA. 214 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|skin(6) 25 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;1.48e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0821)|LUSC - Lung squamous cell carcinoma(625;0.19) TGGACCTGCTCCTTGTTATCC 0.488000 78 28 0 0 0.0024448 0 0 C2orf16 84226 broad.mit.edu 37 2 27803388 27803388 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:27803388G>A uc002rkz.4 + 0 4000 c.3949G>A c.(3949-3951)Gaa>Aaa p.E1317K ZNF512_uc010ylw.2_5'Flank|ZNF512_uc002rlb.3_5'Flank|ZNF512_uc010ylx.2_5'Flank|ZNF512_uc002rlc.3_5'Flank|ZNF512_uc002rla.3_5'Flank|ZNF512_uc010ylv.2_5'Flank|ZNF512_uc010yly.1_5'Flank|ZNF512_uc010ylz.2_5'Flank NM_032266 NP_115642 Q68DN1 CB016_HUMAN Homo sapiens chromosome 2 open reading frame 16 (C2orf16), mRNA. 1317 breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1) 47 Acute lymphoblastic leukemia(172;0.155) TCCTTCTAGGGAATTAGCAGC 0.398000 41 19 0 0 0.00121646 0 0 OR1L4 254973 broad.mit.edu 37 9 125486328 125486328 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr9:125486328C>T uc004bmu.1 + 0 60 c.60C>T c.(58-60)tcC>tcT p.S20S NM_001005235 NP_001005235 Q8NGR5 OR1L4_HUMAN Homo sapiens olfactory receptor, family 1, subfamily L, member 4 (OR1L4), mRNA. 20 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|large_intestine(3)|lung(13)|prostate(1)|skin(1) 20 GCCTCTCTTCCAACCCTAAGC 0.507000 95 5 0 0 0.000978159 0 0 SLC30A8 169026 broad.mit.edu 37 8 118165314 118165314 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr8:118165314G>A uc003yoh.3 + 2 633 c.403G>A c.(403-405)Gga>Aga p.G135R SLC30A8_uc010mcz.3_Missense_Mutation_p.G86R|SLC30A8_uc003yog.3_Missense_Mutation_p.G86R|SLC30A8_uc011lia.2_Missense_Mutation_p.G86R|SLC30A8_uc022bab.1_Missense_Mutation_p.G86R NM_173851 NP_001166286 Q8IWU4 ZNT8_HUMAN Homo sapiens solute carrier family 30 (zinc transporter), member 8 (SLC30A8), transcript variant 1, mRNA. 135 insulin secretion|positive regulation of insulin secretion|regulation of sequestering of zinc ion|regulation of vesicle-mediated transport|response to glucose stimulus|sequestering of zinc ion integral to membrane|plasma membrane|secretory granule membrane|transport vesicle membrane protein homodimerization activity|zinc ion transmembrane transporter activity p.F134F(1) breast(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(18)|ovary(2)|pancreas(2)|skin(5) 41 all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173) STAD - Stomach adenocarcinoma(47;0.203) GCTGACATTTGGATGGCACCG 0.517000 252 108 0 0 0.00361006 0 0 OR4C3 256144 broad.mit.edu 37 11 48346987 48346987 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr11:48346987C>T uc010rhv.2 + 0 495 c.495C>T c.(493-495)ctC>ctT p.L165L NM_001004702 NP_001004702 Q8NH37 OR4C3_HUMAN Homo sapiens olfactory receptor, family 4, subfamily C, member 3 (OR4C3), mRNA. 138 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.L165V(1) breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1) 32 CCAGGCATCTCTGTGCCATGC 0.537000 63 19 0 0 0.00121646 0 0 FRS2 10818 broad.mit.edu 37 12 69965954 69965954 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr12:69965954G>A uc001suy.3 + 8 979 c.469G>A c.(469-471)Gga>Aga p.G157R FRS2_uc001suz.3_Missense_Mutation_p.G157R|FRS2_uc009zrj.3_Missense_Mutation_p.G157R|FRS2_uc009zrk.3_Missense_Mutation_p.G157R NM_006654 NP_006645 Q8WU20 FRS2_HUMAN Homo sapiens fibroblast growth factor receptor substrate 2 (FRS2), transcript variant 1, mRNA. 157 G-protein coupled receptor protein signaling pathway|activation of MAPKK activity|activation of phospholipase C activity|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|transmembrane receptor protein tyrosine phosphatase signaling pathway endomembrane system|endosome|integral to plasma membrane|membrane fraction fibroblast growth factor receptor binding|insulin receptor binding|phosphatase activator activity|transmembrane receptor protein tyrosine kinase adaptor activity autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 22 Breast(13;2.15e-06)|Esophageal squamous(21;0.187) Epithelial(6;2.94e-18)|Lung(24;9.68e-05)|OV - Ovarian serous cystadenocarcinoma(12;0.000984)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24) TCCCTCATTTGGAGATGCTTC 0.493000 55 21 0 0 0.00121646 0 0 KIAA0355 9710 broad.mit.edu 37 19 34838929 34838929 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:34838929C>T uc002nvd.4 + 10 3528 c.2669C>T c.(2668-2670)cCc>cTc p.P890L NM_014686 NP_055501 O15063 K0355_HUMAN Homo sapiens KIAA0355 (KIAA0355), mRNA. 890 breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 41 Esophageal squamous(110;0.162) TGGCCCTTCCCCGAGTTCTTC 0.657000 13 10 0 0 0.000673444 0 0 SFRP2 6423 broad.mit.edu 37 4 154709599 154709599 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr4:154709599G>A uc003inv.1 - 0 630 c.389C>T c.(388-390)tCc>tTc p.S130F NM_003013 NP_003004 Q96HF1 SFRP2_HUMAN Homo sapiens secreted frizzled-related protein 2 (SFRP2), mRNA. 130 FZ. brain development|cardiac left ventricle morphogenesis|cell-cell signaling|dermatome development|hemopoietic stem cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell growth|negative regulation of cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of transcription, DNA-dependent|outflow tract morphogenesis|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell adhesion mediated by integrin|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of fat cell differentiation|positive regulation of peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of stem cell division|sclerotome development cytoplasm|extracellular matrix|extracellular space|plasma membrane PDZ domain binding|Wnt receptor activity|Wnt-protein binding|fibronectin binding|integrin binding|receptor agonist activity breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(1)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 16 all_hematologic(180;0.093) Renal(120;0.117) GCCGAAGGCGGACATGACCGG 0.652000 9 26 0 0 0.000878237 0 0 KLK11 11012 broad.mit.edu 37 19 51527368 51527368 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:51527368G>A uc002pvd.1 - 3 604 c.492C>T c.(490-492)tcC>tcT p.S164S KLK11_uc002pvc.4_Silent_p.S132S|KLK11_uc002pve.1_Silent_p.S21S|KLK11_uc002pvb.2_Silent_p.S157S|KLK11_uc002pvf.1_Silent_p.S132S|KLK11_uc010eom.3_3'UTR NM_144947 NP_006844 Q9UBX7 KLK11_HUMAN Homo sapiens kallikrein-related peptidase 11 (KLK11), transcript variant 2, mRNA. 164 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity breast(1)|endometrium(2)|large_intestine(1)|lung(2)|skin(1) 7 all_neural(266;0.026) OV - Ovarian serous cystadenocarcinoma(262;0.00327)|GBM - Glioblastoma multiforme(134;0.00878) CACAGCGTGAGGAGAGGGTGA 0.622000 16 11 0 0 0.00136819 0 0 ATP12A 479 broad.mit.edu 37 13 25284612 25284612 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr13:25284612G>A uc010aaa.3 + 19 3129 c.2796G>A c.(2794-2796)agG>agA p.R932R ATP12A_uc001upp.3_Silent_p.R926R NM_001185085 NP_001172014 P54707 AT12A_HUMAN Homo sapiens ATPase, H+/K+ transporting, nongastric, alpha polypeptide (ATP12A), transcript variant 1, mRNA. 926 ATP biosynthetic process hydrogen:potassium-exchanging ATPase complex ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5) 74 Lung SC(185;0.0225)|Breast(139;0.077) all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228) Esomeprazole(DB00736)|Pantoprazole(DB00213) GGTACCAGAGGGAATACCTAG 0.453000 50 7 0 0 0.00307968 0 0 CHD3 1107 broad.mit.edu 37 17 7801392 7801392 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr17:7801392G>A uc002gjd.2 + 11 2202 c.2200G>A c.(2200-2202)Gaa>Aaa p.E734K CHD3_uc002gje.2_Missense_Mutation_p.E675K|CHD3_uc002gjf.2_Missense_Mutation_p.E675K|CHD3_uc002gjg.1_Missense_Mutation_p.E503K NM_001005271 NP_001005271 Q12873 CHD3_HUMAN Homo sapiens chromodomain helicase DNA binding protein 3 (CHD3), transcript variant 3, mRNA. 675 chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent NuRD complex|microtubule organizing center ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2) 65 Prostate(122;0.202) TGAATACGAAGAACATAAGCA 0.438000 23 143 0 0 0.00361006 0 0 TMEM131 23505 broad.mit.edu 37 2 98409346 98409346 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:98409346G>A uc002syh.4 - 30 3876 c.3647C>T c.(3646-3648)cCa>cTa p.P1216L NM_015348 NP_056163 Q92545 TM131_HUMAN Homo sapiens transmembrane protein 131 (TMEM131), mRNA. 1216 integral to membrane NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1) 57 GTGGACCGATGGGCCACACTG 0.542000 21 12 0 0 0.000978159 0 0 MKX 283078 broad.mit.edu 37 10 28023391 28023391 + Missense_Mutation SNP G A A rs138096382 TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr10:28023391G>A uc001ity.4 - 4 1057 c.832C>T c.(832-834)Cgc>Tgc p.R278C MKX_uc001itx.4_Missense_Mutation_p.R278C NM_173576 NP_775847 Q8IYA7 MKX_HUMAN Homo sapiens mohawk homeobox (MKX), transcript variant 1, mRNA. 278 muscle organ development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.Y277F(1) NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2) 16 TTACCTGTGCGATAGACAAAG 0.393000 22 41 0 0 0.0025221 0 0 NCOR1 9611 broad.mit.edu 37 17 16062165 16062165 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr17:16062165G>A uc002gpo.3 - 5 910 c.641C>T c.(640-642)gCt>gTt p.A214V NCOR1_uc002gpn.3_Missense_Mutation_p.A214V|NCOR1_uc002gpp.1_Missense_Mutation_p.A105V|NCOR1_uc002gpr.3_Missense_Mutation_p.A105V|NCOR1_uc002gps.2_Missense_Mutation_p.A214V|NCOR1_uc010cpb.2_Missense_Mutation_p.A214V|NCOR1_uc010coz.2_Missense_Mutation_p.A30V|NCOR1_uc010cpa.2_Missense_Mutation_p.A214V NM_006311 NP_006302 O75376 NCOR1_HUMAN Homo sapiens nuclear receptor corepressor 1 (NCOR1), transcript variant 1, mRNA. 214 Interaction with ZBTB33 and HEXIM1. cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter nuclear chromatin|spindle microtubule|transcriptional repressor complex histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10) 107 UCEC - Uterine corpus endometrioid carcinoma (92;0.101) AGGAGGTTTAGCTGCCTCTTC 0.483000 5 27 0 0 0.000878237 0 0 SOAT1 6646 broad.mit.edu 37 1 179310213 179310213 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:179310213C>T uc001gml.3 + 6 779 c.548C>T c.(547-549)aCc>aTc p.T183I SOAT1_uc010pni.2_Missense_Mutation_p.T118I|SOAT1_uc001gmm.3_Missense_Mutation_p.T125I|SOAT1_uc010pnj.2_5'UTR|SOAT1_uc010pnk.2_Missense_Mutation_p.T118I NM_003101 NP_003092 P35610 SOAT1_HUMAN Homo sapiens sterol O-acyltransferase 1 (SOAT1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 183 cholesterol efflux|cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|cholesterol storage|macrophage derived foam cell differentiation|positive regulation of amyloid precursor protein biosynthetic process|very-low-density lipoprotein particle assembly endoplasmic reticulum membrane|integral to membrane|microsome cholesterol O-acyltransferase activity|cholesterol binding|fatty-acyl-CoA binding central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|stomach(1) 20 Ezetimibe(DB00973)|Hesperetin(DB01094) AAATTTCCTACCGTTGTTTGG 0.423000 50 13 0 0 0.00136819 0 0 ATG7 10533 broad.mit.edu 37 3 11350518 11350518 + Missense_Mutation SNP C T T rs143294564 TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr3:11350518C>T uc003bwc.3 + 4 511 c.394C>T c.(394-396)Ctc>Ttc p.L132F ATG7_uc003bwd.3_Missense_Mutation_p.L132F|ATG7_uc011aum.2_Missense_Mutation_p.L132F NM_006395 NP_006386 O95352 ATG7_HUMAN Homo sapiens ATG7 autophagy related 7 homolog (S. cerevisiae) (ATG7), transcript variant 1, mRNA. 132 autophagy|cellular membrane fusion|positive regulation of protein modification process|protein lipidation|protein transport cytoplasm APG12 activating enzyme activity|protein homodimerization activity|ubiquitin activating enzyme activity central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(14)|prostate(1)|skin(2)|urinary_tract(1) 34 CAACAAGTTCCTCCTCTTGAC 0.473000 47 58 0 0 0.00361006 0 0 ODZ1 10178 broad.mit.edu 37 X 123839007 123839007 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chrX:123839007G>A uc010nqy.3 - 4 935 c.871C>T c.(871-873)Cct>Tct p.P291S ODZ1_uc011muj.2_Missense_Mutation_p.P291S|ODZ1_uc004euj.3_Missense_Mutation_p.P291S NM_001163278 NP_001156750 Q9UKZ4 TEN1_HUMAN Homo sapiens odz, odd Oz/ten-m homolog 1 (Drosophila) (ODZ1), transcript variant 1, mRNA. 291 Teneurin N-terminal. immune response|negative regulation of cell proliferation|nervous system development|signal transduction extracellular region heparin binding p.S291S(1) NS(4)|breast(7)|cervix(3)|endometrium(23)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(36)|liver(1)|lung(93)|ovary(13)|pancreas(3)|prostate(2)|skin(10)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2) 212 GGCCTGGGAGGGGGCGAGTAC 0.527000 7 40 0 0 0.00222228 0 0 SLC17A8 246213 broad.mit.edu 37 12 100806590 100806590 + Missense_Mutation SNP C T T rs77232189 TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr12:100806590C>T uc010svi.2 + 9 1542 c.1229C>T c.(1228-1230)tCg>tTg p.S410L SLC17A8_uc009ztx.3_Missense_Mutation_p.S360L NM_139319 NP_647480 Q8NDX2 VGLU3_HUMAN Homo sapiens solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 8 (SLC17A8), transcript variant 1, mRNA. 410 neurotransmitter transport|sensory perception of sound|sodium ion transport cell junction|integral to membrane|synaptic vesicle membrane|synaptosome L-glutamate transmembrane transporter activity|symporter activity NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 44 GTTGGCTTTTCGCATACCAAA 0.448000 52 70 0 0 0.00361006 0 0 MUC16 94025 broad.mit.edu 37 19 9048013 9048013 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:9048013C>T uc002mkp.3 - 4 33822 c.33618G>A c.(33616-33618)ggG>ggA p.G11206G NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 11208 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 AAGTCACCAGCCCTTGTACAG 0.478000 14 20 0 0 0.00152264 0 0 COL6A6 131873 broad.mit.edu 37 3 130300434 130300434 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr3:130300434G>A uc010htl.3 + 7 3608 c.3577G>A c.(3577-3579)Gat>Aat p.D1193N COL6A6_uc003eni.4_5'Flank NM_001102608 NP_001096078 A6NMZ7 CO6A6_HUMAN Homo sapiens collagen, type VI, alpha 6 (COL6A6), mRNA. 1193 Nonhelical region.|VWFA 7. 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 GGTGGGATTTGATGTCTCAAC 0.438000 85 56 0 0 0.00361006 0 0 DOCK2 1794 broad.mit.edu 37 5 169116293 169116293 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr5:169116293C>T uc003maf.3 + 8 879 c.799C>T c.(799-801)Cct>Tct p.P267S DOCK2_uc011der.2_Non-coding_Transcript NM_004946 NP_004937 Q92608 DOCK2_HUMAN Homo sapiens dedicator of cytokinesis 2 (DOCK2), mRNA. 267 actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction cytoskeleton|cytosol|endomembrane system|membrane GTP binding|GTPase binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding|electron carrier activity|heme binding p.P267R(1) NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3) 160 Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) CCGGGGCTTCCCTAAGGAGAT 0.522000 21 26 0 0 0.00327116 0 0 MYO9B 4650 broad.mit.edu 37 19 17212990 17212990 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:17212990C>T uc010eak.3 + 1 615 c.463C>T c.(463-465)Ccc>Tcc p.P155S MYO9B_uc002nfi.3_Missense_Mutation_p.P155S|MYO9B_uc002nfj.1_Missense_Mutation_p.P155S NM_004145 NP_004136 Q13459 MYO9B_HUMAN Homo sapiens myosin IXB (MYO9B), transcript variant 1, mRNA. 155 Myosin head-like. 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 GTGTAACCTCCCCGAGCTAAC 0.622000 31 50 0 0 0.00361006 0 0 SIPA1L3 23094 broad.mit.edu 37 19 38572680 38572680 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:38572680C>T uc002ohk.3 + 2 984 c.475C>T c.(475-477)Ccc>Tcc p.P159S NM_015073 NP_055888 O60292 SI1L3_HUMAN Homo sapiens signal-induced proliferation-associated 1 like 3 (SIPA1L3), mRNA. 159 regulation of small GTPase mediated signal transduction intracellular GTPase activator activity NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3) 59 Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292) GCCCCGGTCCCCCGGCAGGGC 0.711000 21 22 0 0 0.00278032 0 0 GALNT13 114805 broad.mit.edu 37 2 154801055 154801055 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:154801055G>A uc002tyt.4 + 0 149 c.45G>A c.(43-45)ctG>ctA p.L15L GALNT13_uc002tyr.4_Silent_p.L15L NM_052917 NP_443149 Q8IUC8 GLT13_HUMAN Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13) (GALNT13), mRNA. 15 Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding p.S14*(1) NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 65 CCACTTCGCTGATGTGGGTTC 0.418000 72 67 0 0 0.00361006 0 0 AMPD2 271 broad.mit.edu 37 1 110163645 110163645 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:110163645C>T uc009wfh.1 + 1 552 c.10C>T c.(10-12)Cgt>Tgt p.R4C AMPD2_uc009wfg.1_Intron|AMPD2_uc001dyb.1_Intron|AMPD2_uc001dyc.1_Missense_Mutation_p.R4C|AMPD2_uc010ovr.1_5'UTR NM_004037 NP_004028 Q01433 AMPD2_HUMAN Homo sapiens adenosine monophosphate deaminase 2 (AMPD2), transcript variant 1, mRNA. 4 purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage cytosol AMP deaminase activity|metal ion binding p.R4S(1) breast(1)|large_intestine(3)|ovary(2)|skin(1) 7 all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244) Lung(183;0.0425)|all cancers(265;0.0884)|Colorectal(144;0.109)|Epithelial(280;0.111)|LUSC - Lung squamous cell carcinoma(189;0.228) CATGAGAAATCGTGGCCAGGG 0.652000 5 21 0 0 0.000720815 0 0 GLT25D2 23127 broad.mit.edu 37 1 183914630 183914630 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:183914630G>A uc001gqr.3 - 8 1577 c.1205C>T c.(1204-1206)tCc>tTc p.S402F GLT25D2_uc010poj.1_Missense_Mutation_p.S402F|GLT25D2_uc001gqp.3_Missense_Mutation_p.S10F|GLT25D2_uc001gqq.3_Missense_Mutation_p.S139F|GLT25D2_uc001gqs.3_Missense_Mutation_p.S282F NM_015101 NP_055916 Q8IYK4 GT252_HUMAN Homo sapiens glycosyltransferase 25 domain containing 2 (GLT25D2), mRNA. 402 lipopolysaccharide biosynthetic process endoplasmic reticulum lumen procollagen galactosyltransferase activity breast(3)|endometrium(2)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|skin(2) 31 AGGCCTGGAGGAATAGGGATC 0.448000 107 50 0 0 0.00361006 0 0 RPUSD2 27079 broad.mit.edu 37 15 40865983 40865983 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr15:40865983C>T uc001zmd.1 + 2 1161 c.1161C>T c.(1159-1161)ccC>ccT p.P387P RPUSD2_uc021sjh.1_Silent_p.P326P NM_152260 NP_689473 Q8IZ73 RUSD2_HUMAN Homo sapiens RNA pseudouridylate synthase domain containing 2 (RPUSD2), mRNA. 387 pseudouridine synthesis RNA binding|protein binding|pseudouridine synthase activity kidney(4)|lung(4)|skin(3) 11 all_cancers(109;2.74e-14)|all_epithelial(112;1.64e-11)|Lung NSC(122;6.69e-09)|all_lung(180;1.22e-07)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243) GBM - Glioblastoma multiforme(113;3.1e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0786) TCAACGACCCCATCTACAACT 0.597000 36 33 0 0 0.00327116 0 0 ZIM3 114026 broad.mit.edu 37 19 57646552 57646552 + Missense_Mutation SNP G A A rs150510557 TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:57646552G>A uc002qnz.1 - 4 1539 c.1153C>T c.(1153-1155)Cat>Tat p.H385Y NM_052882 NP_443114 Q96PE6 ZIM3_HUMAN Homo sapiens zinc finger, imprinted 3 (ZIM3), mRNA. 385 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.H385Y(2) breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1) 52 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) TCCCCAGTATGGATTTTTTTA 0.393000 149 25 0 0 0.00332997 0 0 TNFRSF11B 4982 broad.mit.edu 37 8 119945254 119945254 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr8:119945254C>T uc003yon.4 - 1 639 c.316G>A c.(316-318)Gaa>Aaa p.E106K TNFRSF11B_uc010mdc.1_Non-coding_Transcript NM_002546 NP_002537 O00300 TR11B_HUMAN Homo sapiens tumor necrosis factor receptor superfamily, member 11b (TNFRSF11B), mRNA. 106 apoptosis|skeletal system development cytokine activity|receptor activity breast(1)|central_nervous_system(3)|endometrium(4)|large_intestine(6)|lung(7)|prostate(3)|skin(1) 25 all_cancers(13;3.71e-26)|Lung NSC(37;1.69e-07)|Ovarian(258;0.018)|all_neural(195;0.0592)|Hepatocellular(40;0.234) STAD - Stomach adenocarcinoma(47;0.00193) TCCTTGCATTCGCACACGCGG 0.557000 56 28 0 0 0.000878237 0 0 PDE6C 5146 broad.mit.edu 37 10 95380655 95380655 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr10:95380655C>T uc001kiu.4 + 2 779 c.641C>T c.(640-642)tCc>tTc p.S214F NM_006204 NP_006195 P51160 PDE6C_HUMAN Homo sapiens phosphodiesterase 6C, cGMP-specific, cone, alpha prime (PDE6C), mRNA. 214 GAF 1. visual perception plasma membrane 3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|metal ion binding breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1) 42 Colorectal(252;0.123) TAGGTCTTTTCCAAATACCTC 0.408000 36 238 0 0 0.00361006 0 0 WNT2B 7482 broad.mit.edu 37 1 113059861 113059861 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:113059861G>A uc001ecb.3 + 3 1315 c.800G>A c.(799-801)cGa>cAa p.R267Q WNT2B_uc001eca.3_Missense_Mutation_p.R248Q|WNT2B_uc009wgg.3_Missense_Mutation_p.R175Q NM_024494 NP_078613 Q93097 WNT2B_HUMAN Homo sapiens wingless-type MMTV integration site family, member 2B (WNT2B), transcript variant WNT-2B2, mRNA. 267 Wnt receptor signaling pathway, calcium modulating pathway|chondrocyte differentiation|cornea development in camera-type eye|dorsal/ventral axis specification|forebrain regionalization|hemopoietic stem cell proliferation|iris morphogenesis|lens development in camera-type eye|lung induction|male gonad development|neuron differentiation|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of canonical Wnt receptor signaling pathway extracellular space|plasma membrane|proteinaceous extracellular matrix frizzled-2 binding|signal transducer activity breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(4)|ovary(2)|skin(1)|stomach(1) 18 Lung SC(450;0.246) all_cancers(81;7.31e-07)|all_epithelial(167;4.59e-06)|all_lung(203;2.56e-05)|Lung NSC(69;4.38e-05) Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) TACCTGCGGCGACGCTATGAT 0.607000 18 52 0 0 0.00361006 0 0 TRPC7 57113 broad.mit.edu 37 5 135583275 135583275 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr5:135583275C>T uc003lbn.2 - 6 1950 c.1728G>A c.(1726-1728)gtG>gtA p.V576V TRPC7_uc010jef.2_Silent_p.V512V|TRPC7_uc010jeg.2_Non-coding_Transcript|TRPC7_uc010jej.2_Silent_p.V127V|TRPC7_uc010jeh.2_Silent_p.V515V|TRPC7_uc010jei.2_Silent_p.V460V NM_020389 NP_065122 Q9HCX4 TRPC7_HUMAN Homo sapiens transient receptor potential cation channel, subfamily C, member 7 (TRPC7), transcript variant 1, mRNA. 576 axon guidance|platelet activation integral to membrane|plasma membrane calcium channel activity|protein binding NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3) 46 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) AGATATCTTTCACAGTTCTCC 0.473000 75 33 0 0 0.00170553 0 0 MUC16 94025 broad.mit.edu 37 19 9056795 9056795 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:9056795G>A uc002mkp.3 - 2 30855 c.30651C>T c.(30649-30651)gcC>gcT p.A10217A NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 10219 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 TATACTGTGAGGCTGGAGGCC 0.468000 44 21 0 0 0.00188189 0 0 VTCN1 79679 broad.mit.edu 37 1 117699533 117699533 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:117699533G>A uc001ehb.3 - 2 213 c.108C>T c.(106-108)tcC>tcT p.S36S VTCN1_uc021osn.1_5'UTR|VTCN1_uc021oso.1_Non-coding_Transcript|VTCN1_uc001ehc.3_5'UTR|VTCN1_uc009whf.2_Intron NM_024626 NP_078902 Q7Z7D3 VTCN1_HUMAN Homo sapiens V-set domain containing T cell activation inhibitor 1 (VTCN1), transcript variant 1, mRNA. 36 Ig-like V-type 1. integral to membrane|plasma membrane large_intestine(7)|lung(4)|upper_aerodigestive_tract(1) 12 Lung SC(450;0.225) all_cancers(81;6.05e-06)|all_epithelial(167;5.59e-07)|all_lung(203;2.85e-06)|Lung NSC(69;2e-05) Lung(183;0.0664)|LUSC - Lung squamous cell carcinoma(189;0.214)|Colorectal(144;0.23) TGACTGTGATGGAGTGTCTCC 0.473000 38 11 0 0 0.000673444 0 0 CDCP2 200008 broad.mit.edu 37 1 54618546 54618546 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:54618546C>T uc001cwv.1 - 0 898 c.50G>A c.(49-51)gGc>gAc p.G17D NM_201546 NP_963840 Q5VXM1 CDCP2_HUMAN Homo sapiens CUB domain containing protein 2 (CDCP2), mRNA. 17 extracellular region kidney(1)|large_intestine(6)|lung(13)|ovary(1)|prostate(2)|stomach(1) 24 GAGCCCTGGGCCCAGCAGTGC 0.652000 46 61 0 0 0.00361006 0 0 TAS2R9 50835 broad.mit.edu 37 12 10962331 10962331 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr12:10962331G>A uc001qyx.3 - 0 437 c.344C>T c.(343-345)tCg>tTg p.S115L TAS2R8_uc010shh.2_5'Flank NM_023917 NP_076406 Q9NYW1 TA2R9_HUMAN Homo sapiens taste receptor, type 2, member 9 (TAS2R9), mRNA. 115 sensory perception of taste integral to membrane taste receptor activity endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 AAATGGGTGCGATATATTGGC 0.378000 21 19 0 0 0.00121646 0 0 FAT2 2196 broad.mit.edu 37 5 150922028 150922028 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr5:150922028G>A uc003lue.4 - 8 8673 c.8660C>T c.(8659-8661)tCc>tTc p.S2887F NM_001447 NP_001438 Q9NYQ8 FAT2_HUMAN Homo sapiens FAT tumor suppressor homolog 2 (Drosophila) (FAT2), mRNA. 2887 Cadherin 25. epithelial cell migration|homophilic cell adhesion cell-cell adherens junction|integral to membrane|nucleus calcium ion binding NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1) 196 Medulloblastoma(196;0.0912)|all_hematologic(541;0.104) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) GGCCTGAGAGGATAGCTGGAT 0.498000 91 36 0 0 0.00327116 0 0 MTMR1 8776 broad.mit.edu 37 X 149912857 149912857 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chrX:149912857C>T uc004feh.1 + 12 1633 c.1498C>T c.(1498-1500)Cat>Tat p.H500Y MTMR1_uc011mya.1_Missense_Mutation_p.H398Y|MTMR1_uc004fei.3_Missense_Mutation_p.H492Y|MTMR1_uc004fej.3_Non-coding_Transcript|MTMR1_uc010ntf.3_Non-coding_Transcript NM_003828 NP_003819 Q13613 MTMR1_HUMAN Homo sapiens myotubularin related protein 1 (MTMR1), mRNA. 492 Myotubularin phosphatase. plasma membrane protein tyrosine phosphatase activity central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(5)|ovary(2)|prostate(1) 23 Acute lymphoblastic leukemia(192;6.56e-05) TAATGACAACCATGCGGATGC 0.413000 6 41 0 0 0.00361006 0 0 C2orf53 339779 broad.mit.edu 37 2 27360020 27360021 + Missense_Mutation DNP GG AA AA TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:27360020_27360021GG>AA uc002rjb.2 - 2 1757_1758 c.1177_1178CC>TT c.(1177-1179)cct>TTt p.P393F PREB_uc002rix.1_5'Flank|PREB_uc002riy.1_5'Flank|C2orf53_uc021vfb.1_Missense_Mutation_p.P393F NM_178553 NP_848648 Q53SZ7 CB053_HUMAN Homo sapiens chromosome 2 open reading frame 53 (C2orf53), mRNA. 393 p.P393H(2) cervix(1)|endometrium(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 20 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GCCAGGGCAAGGCCTGGGCTTC 0.584000 38 45 0 0 6.4e-05 0 0 C15orf39 56905 broad.mit.edu 37 15 75500392 75500392 + Missense_Mutation SNP C A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr15:75500392C>A uc002azp.4 + 1 2323 c.2003C>A c.(2002-2004)cCg>cAg p.P668Q C15orf39_uc002azq.4_Missense_Mutation_p.P668Q|C15orf39_uc021sqm.1_Missense_Mutation_p.P427Q|C15orf39_uc002azr.4_Missense_Mutation_p.P66Q NM_015492 NP_056307 Q6ZRI6 CO039_HUMAN Homo sapiens chromosome 15 open reading frame 39 (C15orf39), mRNA. 668 autonomic_ganglia(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1) 16 GCCGTGGTCCCGTCCACGCCC 0.607000 67 31 2.08457e-15 6.08561e-15 0.00209593 1 0 CRP 1401 broad.mit.edu 37 1 159683350 159683350 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:159683350C>T uc001ftw.3 - 1 744 c.640G>A c.(640-642)Ggc>Agc p.G214S CRP_uc001ftx.1_Missense_Mutation_p.G81S|CRP_uc001fty.1_Non-coding_Transcript NM_000567 NP_000558 P02741 CRP_HUMAN Homo sapiens C-reactive protein, pentraxin-related (CRP), mRNA. 214 Pentaxin. acute-phase response|negative regulation of lipid storage|negative regulation of macrophage derived foam cell differentiation|opsonization Gram-positive bacterial cell surface binding|choline binding|low-density lipoprotein particle binding|metal ion binding|protein binding p.G214C(2) breast(1)|endometrium(3)|kidney(1)|lung(15)|ovary(1)|skin(1) 22 all_hematologic(112;0.0429) Atorvastatin(DB01076)|Bezafibrate(DB01393) AACACTTCGCCTTGCACTTCA 0.557000 47 20 0 0 0.000958276 0 0 SPAG17 200162 broad.mit.edu 37 1 118629581 118629581 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:118629581G>A uc001ehk.2 - 10 1478 c.1410C>T c.(1408-1410)tcC>tcT p.S470S NM_206996 NP_996879 Q6Q759 SPG17_HUMAN Homo sapiens sperm associated antigen 17 (SPAG17), mRNA. 470 cilium|flagellar axoneme|microtubule NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1) 123 Esophageal squamous(2;0.0106) all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01) Lung(183;0.0858) CTGCTCTGGGGGATGGCTCCC 0.522000 97 26 0 0 0.00127121 0 0 HERC1 8925 broad.mit.edu 37 15 64046743 64046743 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr15:64046743C>T uc002amp.3 - 6 1883 c.1735G>A c.(1735-1737)Gat>Aat p.D579N HERC1_uc010uil.1_Intron|HERC1_uc010bgt.1_Missense_Mutation_p.D579N NM_003922 NP_003913 Q15751 HERC1_HUMAN Homo sapiens hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1 (HERC1), mRNA. 579 protein modification process|transport Golgi apparatus|cytosol|membrane ARF guanyl-nucleotide exchange factor activity|acid-amino acid ligase activity NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 132 GTTCTCCCATCTTTAGACAGA 0.348000 42 30 0 0 0.0024448 0 0 SPRYD4 283377 broad.mit.edu 37 12 56863217 56863217 + Silent SNP G A A rs71459371 TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr12:56863217G>A uc001sli.4 + 1 555 c.480G>A c.(478-480)caG>caA p.Q160Q SPRYD4_uc010sqo.1_Silent_p.Q148Q NM_207344 NP_997227 Q8WW59 SPRY4_HUMAN Homo sapiens SPRY domain containing 4 (SPRYD4), mRNA. 160 B30.2/SPRY. nucleus kidney(1)|large_intestine(3)|lung(1)|ovary(1)|prostate(1) 7 ATGAGGCCCAGAAGCTGAGCC 0.592000 25 28 0 0 0.001512 0 0 BNIP2 663 broad.mit.edu 37 15 59964889 59964889 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr15:59964889G>A uc010uhc.2 - 5 888 c.885C>T c.(883-885)ttC>ttT p.F295F BNIP2_uc010uhb.2_Silent_p.F236F NM_004330 NP_004321 Q12982 BNIP2_HUMAN Homo sapiens BCL2/adenovirus E1B 19kDa interacting protein 2 (BNIP2), mRNA. 174 CRAL-TRIO. anti-apoptosis|apoptosis|positive regulation of muscle cell differentiation nuclear envelope|perinuclear region of cytoplasm GTPase activator activity|calcium ion binding|protein binding NS(1)|large_intestine(2)|lung(5)|ovary(1) 9 TTTCAGGCATGAAACAGACAG 0.343000 75 52 0 0 0.00361006 0 0 CD163 9332 broad.mit.edu 37 12 7632488 7632488 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr12:7632488C>T uc001qsz.3 - 15 3576 c.3448G>A c.(3448-3450)Gaa>Aaa p.E1150K CD163_uc001qta.3_Silent_p.*1122*|CD163_uc009zfw.2_Silent_p.*1155* NM_004244 NP_004235 Q86VB7 C163A_HUMAN Homo sapiens CD163 molecule (CD163), transcript variant 1, mRNA. 1150 acute-phase response extracellular region|integral to plasma membrane protein binding|scavenger receptor activity breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4) 76 TTTTCCTTTTCAGTGTGGCTC 0.398000 23 34 0 0 0.00375469 0 0 C11orf30 56946 broad.mit.edu 37 11 76255759 76255759 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr11:76255759C>T uc001oxl.3 + 18 3309 c.3166C>T c.(3166-3168)Cct>Tct p.P1056S C11orf30_uc001oxm.3_Missense_Mutation_p.P958S|C11orf30_uc010rsb.2_Missense_Mutation_p.P1071S|C11orf30_uc010rsc.2_Missense_Mutation_p.P1057S|C11orf30_uc001oxn.3_Missense_Mutation_p.P1057S|C11orf30_uc010rsd.2_Missense_Mutation_p.P965S|C11orf30_uc001oxo.1_Missense_Mutation_p.P410S|C11orf30_uc010rse.2_Missense_Mutation_p.P303S|C11orf30_uc001oxp.3_Missense_Mutation_p.P156S NM_020193 NP_064578 Q7Z589 EMSY_HUMAN Homo sapiens chromosome 11 open reading frame 30 (C11orf30), mRNA. 1056 Gln-rich. DNA repair|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus p.P1056H(1)|p.L1055L(1) NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(10)|liver(1)|lung(23)|ovary(5)|prostate(2)|skin(4)|stomach(1)|urinary_tract(2) 60 GCAGCAGCTCCCTAAACTGCA 0.552000 55 14 0 0 0.00185496 0 0 CA13 377677 broad.mit.edu 37 8 86180738 86180738 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr8:86180738C>T uc003ydg.2 + 5 893 c.551C>T c.(550-552)tCt>tTt p.S184F CA13_uc003ydf.1_Non-coding_Transcript NM_198584 NP_940986 Q8N1Q1 CAH13_HUMAN Homo sapiens carbonic anhydrase XIII (CA13), mRNA. 184 one-carbon metabolic process carbonate dehydratase activity|zinc ion binding large_intestine(1)|lung(6) 7 GACCTATTGTCTCTGCTTCCA 0.398000 57 56 0 0 0.00361006 0 0 OR6F1 343169 broad.mit.edu 37 1 247875297 247875297 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:247875297G>A uc001idj.1 - 0 761 c.761C>T c.(760-762)tCc>tTc p.S254F NM_001005286 NP_001005286 Q8NGZ6 OR6F1_HUMAN Homo sapiens olfactory receptor, family 6, subfamily F, member 1 (OR6F1), mRNA. 254 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.G253L(1) breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2) 47 all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) OV - Ovarian serous cystadenocarcinoma(106;0.0168) GAAAACTGTGGACCCATACCA 0.537000 91 17 0 0 0.000566183 0 0 FANCD2 2177 broad.mit.edu 37 3 10136910 10136910 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr3:10136910C>T uc003buw.3 + 40 4068 c.3990C>T c.(3988-3990)acC>acT p.T1330T FANCD2_uc003bux.1_Silent_p.T1330T|FANCD2_uc003buy.1_Silent_p.T1330T|FANCD2_uc010hcw.1_Non-coding_Transcript|C3orf24_uc003buz.3_Intron NM_033084 NP_149075 Q9BXW9 FACD2_HUMAN Homo sapiens Fanconi anemia, complementation group D2 (FANCD2), transcript variant 1, mRNA. 1330 DNA repair|response to gamma radiation nucleoplasm protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 51 OV - Ovarian serous cystadenocarcinoma(96;0.148) TACTGGAAACCTTCCAGTTGG 0.428000 """D, Mis, N, F""" """AML, leukemia""" Involved in tolerance or repair of DNA crosslinks Fanconi Anemia 14 11 0 0 0.00136819 0 0 AHNAK2 113146 broad.mit.edu 37 14 105413991 105413991 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr14:105413991C>T uc010axc.1 - 6 7917 c.7797G>A c.(7795-7797)aaG>aaA p.K2599K AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Silent_p.K2499K NM_138420 NP_612429 Q8IVF2 AHNK2_HUMAN Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA. 2599 nucleus cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3) 33 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) TCACTTCCGCCTTGGGGCCTT 0.622000 73 107 0 0 0.00361006 0 0 SLC39A11 201266 broad.mit.edu 37 17 70845886 70845886 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr17:70845886G>A uc002jjb.3 - 5 624 c.509C>T c.(508-510)cCa>cTa p.P170L SLC39A11_uc002jja.3_Missense_Mutation_p.P163L NM_001159770 NP_001153242 Q8N1S5 S39AB_HUMAN Homo sapiens solute carrier family 39 (metal ion transporter), member 11 (SLC39A11), transcript variant 1, mRNA. 170 zinc ion transport integral to membrane metal ion transmembrane transporter activity endometrium(1)|large_intestine(4)|liver(2)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 16 AGGACCCTCTGGAAGGCCAGT 0.542000 64 16 0 0 0.00152264 0 0 PLD1 5337 broad.mit.edu 37 3 171405331 171405331 + Missense_Mutation SNP T C C TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr3:171405331T>C uc003fhs.3 - 14 1930 c.1583A>G c.(1582-1584)aAa>aGa p.K528R PLD1_uc003fht.3_Missense_Mutation_p.K528R NM_002662 NP_002653 Q13393 PLD1_HUMAN Homo sapiens phospholipase D1, phosphatidylcholine-specific (PLD1), transcript variant 1, mRNA. 528 Catalytic. Ras protein signal transduction|cell communication|chemotaxis Golgi membrane|endoplasmic reticulum membrane|late endosome membrane|perinuclear region of cytoplasm NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 63 all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186) LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14) Choline(DB00122) AGGCTCATTTTTATCTTTGAG 0.368000 68 46 0 0 0.00361006 0 0 ZDHHC17 23390 broad.mit.edu 37 12 77191241 77191241 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr12:77191241C>T uc001syk.1 + 1 284 c.121C>T c.(121-123)Cat>Tat p.H41Y ZDHHC17_uc001syi.1_Non-coding_Transcript|ZDHHC17_uc001syj.2_Intron NM_015336 NP_056151 Q8IUH5 ZDH17_HUMAN Homo sapiens zinc finger, DHHC-type containing 17 (ZDHHC17), mRNA. 41 lipoprotein transport|positive regulation of I-kappaB kinase/NF-kappaB cascade Golgi-associated vesicle membrane|integral to membrane magnesium ion transmembrane transporter activity|protein binding|protein-cysteine S-palmitoleyltransferase activity|signal transducer activity|zinc ion binding breast(2)|endometrium(2)|large_intestine(3)|liver(2)|lung(14) 23 CCATTATAACCATGGATATGG 0.343000 10 17 0 0 0.000958276 0 0 SLC6A18 348932 broad.mit.edu 37 5 1243685 1243685 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr5:1243685G>A uc003jby.2 + 8 1270 c.1147G>A c.(1147-1149)Ggc>Agc p.G383S NM_182632 NP_872438 Q96N87 S6A18_HUMAN Homo sapiens solute carrier family 6, member 18 (SLC6A18), mRNA. 383 cellular nitrogen compound metabolic process integral to plasma membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1) 34 all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10) Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185) CTCGGGCCCGGGCCTGGCCTT 0.642000 84 44 0 0 0.00361006 0 0 IGFL4 444882 broad.mit.edu 37 19 46543462 46543462 + Missense_Mutation SNP T C C TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:46543462T>C uc002pdy.1 - 2 337 c.283A>G c.(283-285)Atg>Gtg p.M95V NM_001002923 NP_001002923 Q6B9Z1 IGFL4_HUMAN Homo sapiens IGF-like family member 4 (IGFL4), mRNA. 95 extracellular region cervix(1)|kidney(1)|lung(1) 3 all_neural(266;0.113)|Ovarian(192;0.127) OV - Ovarian serous cystadenocarcinoma(262;0.0036)|GBM - Glioblastoma multiforme(486;0.022)|Epithelial(262;0.208) TCTGGCTTCATGCCTGGGACC 0.592000 35 21 0 0 0.00278032 0 0 HEPHL1 341208 broad.mit.edu 37 11 93836140 93836140 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr11:93836140C>T uc001pep.2 + 14 2793 c.2636C>T c.(2635-2637)cCc>cTc p.P879L AF086184_uc001pen.1_Intron NM_001098672 NP_001092142 Q6MZM0 HPHL1_HUMAN Homo sapiens hephaestin-like 1 (HEPHL1), mRNA. 879 Plastocyanin-like 5. copper ion transport integral to membrane copper ion binding|oxidoreductase activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 61 Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824) CCTTCTGATCCCAATTGTATT 0.333000 4 24 0 0 0.000878237 0 0 MVD 4597 broad.mit.edu 37 16 88723906 88723906 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr16:88723906G>A uc002flg.1 - 3 348 c.341C>T c.(340-342)tCg>tTg p.S114L MVD_uc002flf.1_5'Flank NM_002461 NP_002452 P53602 MVD1_HUMAN Homo sapiens mevalonate (diphospho) decarboxylase (MVD), mRNA. 114 cholesterol biosynthetic process|positive regulation of cell proliferation cytosol ATP binding|Hsp70 protein binding|diphosphomevalonate decarboxylase activity|kinase activity|protein homodimerization activity endometrium(3)|large_intestine(1)|lung(7)|ovary(1) 12 BRCA - Breast invasive adenocarcinoma(80;0.0478) GTTGTTCACCGATGCCACGTG 0.677000 30 12 0 0 0.00316338 0 0 ZNF441 126068 broad.mit.edu 37 19 11891506 11891506 + Missense_Mutation SNP T G G TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:11891506T>G uc010dyj.3 + 3 1061 c.867T>G c.(865-867)ttT>ttG p.F289L ZNF441_uc002msn.4_Missense_Mutation_p.F245L NM_152355 NP_689568 Q8N8Z8 ZN441_HUMAN Homo sapiens zinc finger protein 441 (ZNF441), mRNA. 289 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 GGAAAGCATTTTATCATCTTG 0.403000 27 41 0 0 0.00222228 0 0 LMTK3 114783 broad.mit.edu 37 19 49013377 49013377 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:49013377C>T uc002pjk.3 - 3 351 c.351G>A c.(349-351)gcG>gcA p.A117A NM_001080434 NP_001073903 Homo sapiens lemur tyrosine kinase 3 (LMTK3), mRNA. breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(9)|prostate(1) 16 all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231) AGGTCTCCTCCGCAGGGGGAG 0.622000 12 6 0 0 0.00198382 0 0 MAS1 4142 broad.mit.edu 37 6 160328212 160328212 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr6:160328212C>T uc003qsz.3 + 0 239 c.225C>T c.(223-225)atC>atT p.I75I NM_002377 NP_002368 P04201 MAS_HUMAN Homo sapiens MAS1 oncogene (MAS1), mRNA. 75 anatomical structure morphogenesis|cell proliferation|protein kinase C signaling cascade integral to plasma membrane angiotensin type II receptor activity breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 23 Breast(66;0.000776)|Ovarian(120;0.0303) OV - Ovarian serous cystadenocarcinoma(65;2.44e-18)|BRCA - Breast invasive adenocarcinoma(81;5.6e-06) ACCTGTCTATCGCAGACATCT 0.438000 14 102 0 0 0.00361006 0 0 SYT8 90019 broad.mit.edu 37 11 1858493 1858493 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr11:1858493C>T uc001lue.1 + 8 1166 c.1038C>T c.(1036-1038)caC>caT p.H346H SYT8_uc001lud.2_Silent_p.H346H|TNNI2_uc021qbt.1_5'Flank|TNNI2_uc021qbu.1_5'Flank|TNNI2_uc021qbv.1_5'Flank|TNNI2_uc010qxe.1_5'Flank NM_138567 NP_612634 Q8NBV8 SYT8_HUMAN Homo sapiens synaptotagmin VIII (SYT8), mRNA. 346 C2 2. acrosomal vesicle|integral to membrane|plasma membrane|synaptic vesicle transporter activity breast(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1) 6 all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082) GCAAGGTGCACCTGGGTGCCC 0.706000 6 11 0 0 0.000978159 0 0 NWD1 284434 broad.mit.edu 37 19 16870130 16870130 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:16870130G>A uc002neu.4 + 6 2286 c.1864G>A c.(1864-1866)Gag>Aag p.E622K NWD1_uc002net.4_Missense_Mutation_p.E487K|NWD1_uc002nev.4_Missense_Mutation_p.E416K|NWD1_uc021uqg.1_Missense_Mutation_p.E487K NM_001007525 NP_001007526 Q149M9 NWD1_HUMAN Homo sapiens NACHT and WD repeat domain containing 1 (NWD1), mRNA. 622 NACHT. ATP binding p.S622F(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 GCCCAGCAAGGAGCTGCTGCG 0.642000 25 7 0 0 0.00307968 0 0 SPTA1 6708 broad.mit.edu 37 1 158641235 158641235 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:158641235C>T uc001fst.1 - 11 1696 c.1497G>A c.(1495-1497)ctG>ctA p.L499L NM_003126 NP_003117 P02549 SPTA1_HUMAN Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA. 499 actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6) 307 all_hematologic(112;0.0378) CCTCGTTTTCCAGGAAGGCCT 0.488000 26 11 0 0 0.00244969 0 0 RERE 473 broad.mit.edu 37 1 8425888 8425888 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:8425888G>A uc001ape.3 - 13 2241 c.1431C>T c.(1429-1431)ccC>ccT p.P477P RERE_uc001apf.3_Silent_p.P477P|RERE_uc010nzx.1_Silent_p.P209P|RERE_uc001apd.3_5'UTR NM_012102 NP_036234 Q9P2R6 RERE_HUMAN Homo sapiens arginine-glutamic acid dipeptide (RE) repeats (RERE), transcript variant 1, mRNA. 477 NLS-bearing substrate import into nucleus|multicellular organismal development mitochondrion poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 Ovarian(185;0.0661) all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195) CACTGGACGGGGGTCTGGAGG 0.637000 2 54 0 0 0.00361006 0 0 LOC643802 643802 broad.mit.edu 37 16 53404789 53404789 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr16:53404789C>T uc021tik.1 - 0 253 c.113G>A c.(112-114)aGc>aAc p.S38N NM_001207030 NP_001193959 Homo sapiens u3 small nucleolar ribonucleoprotein protein MPP10-like (LOC643802), mRNA. TTCCAATTTGCTGATATCAAA 0.413000 33 9 0 0 0.000442599 0 0 AKR1D1 6718 broad.mit.edu 37 7 137790090 137790090 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr7:137790090C>T uc003vtz.3 + 4 581 c.494C>T c.(493-495)tCc>tTc p.S165F AKR1D1_uc011kqd.1_Non-coding_Transcript|AKR1D1_uc011kqb.1_Missense_Mutation_p.S165F|AKR1D1_uc011kqc.1_Non-coding_Transcript|AKR1D1_uc011kqf.2_Intron|AKR1D1_uc011kqe.1_Missense_Mutation_p.S165F|AKR1D1_uc010lmy.1_Non-coding_Transcript NM_005989 NP_005980 P51857 AK1D1_HUMAN Homo sapiens aldo-keto reductase family 1, member D1 (delta 4-3-ketosteroid-5-beta-reductase) (AKR1D1), transcript variant 1, mRNA. 165 C21-steroid hormone metabolic process|androgen metabolic process|bile acid biosynthetic process|bile acid catabolic process|cholesterol catabolic process|digestion cytosol aldo-keto reductase (NADP) activity|delta4-3-oxosteroid 5beta-reductase activity|steroid binding endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(3)|upper_aerodigestive_tract(1) 23 TTGGTGAAATCCCTGGGAGTG 0.483000 182 49 0 0 0.00361006 0 0 FBXL3 26224 broad.mit.edu 37 13 77581760 77581760 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr13:77581760G>A uc001vkd.3 - 4 1178 c.807C>T c.(805-807)ttC>ttT p.F269F NM_012158 NP_036290 Q9UKT7 FBXL3_HUMAN Homo sapiens F-box and leucine-rich repeat protein 3 (FBXL3), mRNA. 269 SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|regulation of circadian rhythm|rhythmic process SCF ubiquitin ligase complex|cytoplasm|nucleus protein binding|ubiquitin-protein ligase activity breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|urinary_tract(1) 16 Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.218) GBM - Glioblastoma multiforme(99;0.0521) GAATAGTATGGAAGTGTGTCT 0.373000 24 25 0 0 0.00106085 0 0 KALRN 8997 broad.mit.edu 37 3 124416491 124416492 + Missense_Mutation DNP CC TT TT TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr3:124416491_124416492CC>TT uc003ehg.3 + 54 7878_7879 c.7751_7752CC>TT c.(7750-7752)tcc>tTT p.S2584F KALRN_uc003ehk.3_Missense_Mutation_p.S887F NM_001024660 NP_001019831 O60229 KALRN_HUMAN Homo sapiens kalirin, RhoGEF kinase (KALRN), transcript variant 1, mRNA. 2583 Fibronectin type-III. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport actin cytoskeleton|cytosol ATP binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 83 AGCTGCACCTCCGTGATTCTCC 0.545000 12 7 0 0 6.4e-05 0 0 DNASE2 1777 broad.mit.edu 37 19 12989369 12989369 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:12989369G>A uc002mvn.1 - 4 682 c.536C>T c.(535-537)cCc>cTc p.P179L DNASE2_uc010xmr.1_Missense_Mutation_p.P124L NM_001375 NP_001366 O00115 DNS2A_HUMAN Homo sapiens deoxyribonuclease II, lysosomal (DNASE2), mRNA. 179 apoptosis lysosome DNA binding|deoxyribonuclease II activity|protein binding p.P179T(1) breast(1)|large_intestine(1)|lung(4)|ovary(1) 7 ATAGACCCAGGGGTAGGTGTA 0.547000 15 17 0 0 0.00152264 0 0 PLXND1 23129 broad.mit.edu 37 3 129276010 129276010 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr3:129276010G>A uc003emx.2 - 33 5602 c.5502C>T c.(5500-5502)atC>atT p.I1834I PLXND1_uc003emw.2_5'UTR|PLXND1_uc011blb.1_Silent_p.I503I NM_015103 NP_055918 Q9Y4D7 PLXD1_HUMAN Homo sapiens plexin D1 (PLXND1), mRNA. 1834 axon guidance integral to membrane|intracellular|plasma membrane PLXND1/TMCC1(4) NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 72 AGCGCTGCACGATCTTCCGGT 0.587000 51 36 0 0 0.00148497 0 0 PYCRL 65263 broad.mit.edu 37 8 144687954 144687954 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr8:144687954G>A uc003yyy.3 - 5 807 c.777C>T c.(775-777)gcC>gcT p.A259A PYCRL_uc011lkm.2_Silent_p.A239A|PYCRL_uc011lkn.2_Non-coding_Transcript NM_023078 NP_075566 Q53H96 P5CR3_HUMAN Homo sapiens pyrroline-5-carboxylate reductase-like (PYCRL), mRNA. 247 proline biosynthetic process pyrroline-5-carboxylate reductase activity central_nervous_system(1)|endometrium(1)|lung(2)|ovary(1) 5 all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.17e-38)|Epithelial(56;7.17e-37)|all cancers(56;2.46e-32)|Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239) CCTGCTCCAGGGCGTGGAGTC 0.682000 71 29 0 0 0.0024448 0 0 FRZB 2487 broad.mit.edu 37 2 183723556 183723556 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:183723556G>A uc002upa.2 - 1 702 c.484C>T c.(484-486)Cct>Tct p.P162S NM_001463 NP_001454 Q92765 SFRP3_HUMAN Homo sapiens frizzled-related protein (FRZB), mRNA. 162 Wnt receptor signaling pathway|brain development|cochlea morphogenesis|gonad development|mammary gland involution|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cartilage development|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of hepatocyte differentiation|positive regulation of apoptosis|positive regulation of fat cell differentiation|skeletal system development|vasculature development cytoplasm|extracellular space|membrane PDZ domain binding|Wnt receptor activity|Wnt-protein binding central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1) 21 OV - Ovarian serous cystadenocarcinoma(117;0.109)|Epithelial(96;0.231) GAATCCATAGGAAAATCTGAA 0.343000 89 70 0 0 0.00361006 0 0 OSMR 9180 broad.mit.edu 37 5 38919081 38919081 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr5:38919081C>T uc003jln.2 + 10 1904 c.1502C>T c.(1501-1503)tCc>tTc p.S501F OSMR_uc011cpj.2_5'UTR NM_003999 NP_003990 Q99650 OSMR_HUMAN Homo sapiens oncostatin M receptor (OSMR), transcript variant 1, mRNA. 501 Fibronectin type-III 2. cell proliferation|positive regulation of cell proliferation oncostatin-M receptor complex growth factor binding|oncostatin-M receptor activity NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 46 all_lung(31;0.000365) GACAGGTGTTCCTACCAAATC 0.438000 6 33 0 0 0.00111076 0 0 TTN 7273 broad.mit.edu 37 2 179427361 179427361 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:179427361C>T uc021vsy.1 - 274 76019 c.75794G>A c.(75793-75795)gGa>gAa p.G25265E MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.G18960E|TTN_uc021vta.1_Missense_Mutation_p.G18893E|TTN_uc021vtb.1_Missense_Mutation_p.G18768E NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 26192 Ig-like 124. 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) GTAAGAACATCCTTCTTGTAG 0.388000 51 37 0 0 0.000814825 0 0 MYT1 4661 broad.mit.edu 37 20 62848472 62848472 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr20:62848472C>T uc002yii.3 + 10 2048 c.1684C>T c.(1684-1686)Ccc>Tcc p.P562S MYT1_uc002yih.3_Missense_Mutation_p.P264S|MYT1_uc002yij.3_Missense_Mutation_p.P194S NM_004535 NP_004526 Q01538 MYT1_HUMAN Homo sapiens myelin transcription factor 1 (MYT1), mRNA. 562 cell differentiation|nervous system development nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09) GAGCTACCGGCCCAACGTGGC 0.597000 81 24 0 0 0.00395357 0 0 MAP3K15 389840 broad.mit.edu 37 X 19410163 19410163 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chrX:19410163C>T uc022btq.1 - 17 2388 c.2388G>A c.(2386-2388)tcG>tcA p.S796S MAP3K15_uc004czj.2_Silent_p.S231S|MAP3K15_uc004czk.2_Silent_p.S271S NM_001001671 NP_001001671 Q6ZN16 M3K15_HUMAN Homo sapiens mitogen-activated protein kinase kinase kinase 15 (MAP3K15), mRNA. 796 Protein kinase. ATP binding|MAP kinase kinase kinase activity|metal ion binding p.S843S(1)|p.S271S(1) NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 42 Hepatocellular(33;0.183) CAAGACGTTTCGAGGTTCCAA 0.488000 0 22 0 0 0.00278032 0 0 WDR74 54663 broad.mit.edu 37 11 62601757 62601757 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr11:62601757G>A uc001nvm.2 - 8 934 c.766C>T c.(766-768)Ctt>Ttt p.L256F STX5_uc001nvh.3_5'Flank|STX5_uc010rmj.2_5'Flank|STX5_uc010rmi.2_5'Flank|WDR74_uc001nvl.2_Missense_Mutation_p.L256F|WDR74_uc009yoi.2_Missense_Mutation_p.L256F NM_018093 NP_060563 Q6RFH5 WDR74_HUMAN Homo sapiens WD repeat domain 74 (WDR74), mRNA. 256 nucleolus kidney(2)|large_intestine(1)|liver(1)|lung(3)|ovary(1) 8 CCTTGCCGAAGGTCAATTTCT 0.567000 54 79 0 0 0.00361006 0 0 RETNLB 84666 broad.mit.edu 37 3 108474705 108474705 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr3:108474705C>T uc003dxh.2 - 2 354 c.256G>A c.(256-258)Gat>Aat p.D86N NM_032579 NP_115968 Q9BQ08 RETNB_HUMAN Homo sapiens resistin like beta (RETNLB), mRNA. 86 cell proliferation extracellular region hormone activity endometrium(1)|kidney(3)|lung(10)|prostate(1)|skin(1) 16 AGCTGAACATCCCACGAACCA 0.572000 37 31 0 0 0.00178596 0 0 ZNF480 147657 broad.mit.edu 37 19 52825827 52825827 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:52825827C>T uc010ydl.2 + 4 1394 c.1324C>T c.(1324-1326)Ctt>Ttt p.L442F ZNF480_uc002pyv.3_Missense_Mutation_p.L365F|ZNF480_uc010ydm.2_Missense_Mutation_p.L399F|ZNF480_uc010epn.3_Missense_Mutation_p.L273F|AK097759_uc002pyw.1_Intron NM_144684 NP_653285 Q8WV37 ZN480_HUMAN Homo sapiens zinc finger protein 480 (ZNF480), mRNA. 442 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|upper_aerodigestive_tract(1) 12 GBM - Glioblastoma multiforme(134;0.00212)|OV - Ovarian serous cystadenocarcinoma(262;0.00369) GTATTCAGGCCTTTCAGCCCA 0.393000 157 35 0 0 0.00128727 0 0 DGKQ 1609 broad.mit.edu 37 4 956341 956341 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr4:956341G>A uc003gbw.3 - 17 2170 c.2096C>T c.(2095-2097)tCc>tTc p.S699F DGKQ_uc010ibn.3_Missense_Mutation_p.S686F NM_001347 NP_001338 P52824 DGKQ_HUMAN Homo sapiens diacylglycerol kinase, theta 110kDa (DGKQ), mRNA. 699 DAGKc. activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|platelet activation|protein kinase C signaling cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to ATP|thrombin receptor signaling pathway cytoskeleton|cytosol|nuclear speck|plasma membrane ATP binding|activating transcription factor binding|diacylglycerol kinase activity|kinase binding|metal ion binding|phospholipase binding breast(1)|endometrium(2)|kidney(2)|lung(2)|prostate(2) 9 OV - Ovarian serous cystadenocarcinoma(23;0.0158) CAGCAGTACGGAGAACGGGTC 0.647000 17 17 0 0 0.00121646 0 0 UEVLD 55293 broad.mit.edu 37 11 18596940 18596940 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr11:18596940C>T uc001mot.3 - 2 227 c.147G>A c.(145-147)caG>caA p.Q49Q UEVLD_uc001mou.3_Silent_p.Q49Q|UEVLD_uc010rde.2_5'UTR|UEVLD_uc010rdf.2_Intron|UEVLD_uc010rdg.2_5'UTR|UEVLD_uc001mov.3_Intron|UEVLD_uc010rdh.2_Silent_p.Q49Q NM_001040697 NP_001035787 Q8IX04 UEVLD_HUMAN Homo sapiens UEV and lactate/malate dehyrogenase domains (UEVLD), transcript variant 1, mRNA. 49 UEV. cellular carbohydrate metabolic process|protein modification process|protein transport binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 8 GCAGGTCTTTCTGAGAACTAT 0.338000 41 58 0 0 0.00361006 0 0 KREMEN1 83999 broad.mit.edu 37 22 29533461 29533461 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr22:29533461C>T uc011akm.1 + 5 816 c.763C>T c.(763-765)Cac>Tac p.H255Y KREMEN1_uc003ael.3_Missense_Mutation_p.H255Y|KREMEN1_uc011akn.2_Missense_Mutation_p.H138Y NM_032045 NP_114434 Q96MU8 KREM1_HUMAN Homo sapiens kringle containing transmembrane protein 1 (KREMEN1), transcript variant 2, mRNA. 253 CUB. Wnt receptor signaling pathway|cell communication|regulation of canonical Wnt receptor signaling pathway integral to membrane|membrane fraction protein binding breast(1)|endometrium(3)|large_intestine(2)|lung(8)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2) 20 CTCCCACATCCACTTCAGCTT 0.612000 41 46 0 0 0.00361006 0 0 CSMD3 114788 broad.mit.edu 37 8 113529379 113529379 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr8:113529379C>T uc003ynu.3 - 27 4799 c.4640G>A c.(4639-4641)gGg>gAg p.G1547E CSMD3_uc003yns.3_Missense_Mutation_p.G819E|CSMD3_uc003ynt.3_Missense_Mutation_p.G1507E|CSMD3_uc011lhx.2_Missense_Mutation_p.G1443E NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA. 1547 Sushi 8. integral to membrane|plasma membrane breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 AACAGTGTCCCCAGGTTCTCT 0.478000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 45 30 0 0 0.00209593 0 0 ZNF385C 201181 broad.mit.edu 37 17 40180127 40180127 + Missense_Mutation SNP G A A rs147945853 TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr17:40180127G>A uc021txr.1 - 5 868 c.868C>T c.(868-870)Cct>Tct p.P290S NM_001242704 NP_001229633 Homo sapiens zinc finger protein 385C (ZNF385C), mRNA. lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 3 all_cancers(22;0.00127)|Breast(137;0.00104)|all_epithelial(22;0.0126) TGGAAGGCAGGGCTGGGCCCC 0.682000 3 53 0 0 0.00361006 0 0 NUP214 8021 broad.mit.edu 37 9 134038512 134038512 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr9:134038512C>T uc004cag.3 + 18 2786 c.2675C>T c.(2674-2676)tCc>tTc p.S892F NUP214_uc004cah.3_Missense_Mutation_p.S882F|NUP214_uc004cai.3_Missense_Mutation_p.S322F|NUP214_uc004caf.1_Missense_Mutation_p.S881F|NUP214_uc010mzf.3_Missense_Mutation_p.S190F NM_005085 NP_005076 P35658 NU214_HUMAN Homo sapiens nucleoporin 214kDa (NUP214), mRNA. 892 11 X 5 AA approximate repeats. carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore|nucleoplasm protein binding NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 86 all_hematologic(7;0.0028) Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256) AAACAGACTTCCCTGTGGAGC 0.493000 T """DEK, SET, ABL1""" """AML, T-ALL""" 8 56 0 0 0.00361006 0 0 MUC16 94025 broad.mit.edu 37 19 9068232 9068232 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:9068232G>A uc002mkp.3 - 2 19418 c.19214C>T c.(19213-19215)tCc>tTc p.S6405F NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 6407 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 TCTGCTAGAGGAGGTGAGTTC 0.498000 48 20 0 0 0.00121646 0 0 TK2 7084 broad.mit.edu 37 16 66565282 66565283 + Splice_Site DNP CC TT TT TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr16:66565282_66565283CC>TT uc002eos.3 - 5 726 c.375_splice c.e5+1 p.Q125_splice TK2_uc010vip.2_Splice_Site_p.Q28_splice|TK2_uc002eor.3_Splice_Site_p.Q94_splice|TK2_uc010cdq.3_Splice_Site_p.Q94_splice|TK2_uc010viq.2_Splice_Site_p.Q107_splice|TK2_uc010vir.2_Splice_Site_p.Q100_splice|TK2_uc010cdr.3_Splice_Site_p.Q76_splice NM_004614 NP_004605 O00142 KITM_HUMAN Homo sapiens thymidine kinase 2, mitochondrial (TK2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 125 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) CTGAAACCTACCTGAGGACGAG 0.515000 26 5 0 0 6.4e-05 0 0 SNX24 28966 broad.mit.edu 37 5 122281819 122281819 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr5:122281819G>A uc011cwo.2 + 2 383 c.214G>A c.(214-216)Gaa>Aaa p.E72K SNX24_uc003ktf.2_Missense_Mutation_p.E72K|SNX24_uc010jcy.3_Missense_Mutation_p.E72K NM_014035 NP_054754 Q9Y343 SNX24_HUMAN Homo sapiens sorting nexin 24 (SNX24), mRNA. 72 PX. cell communication|protein transport cytoplasmic vesicle membrane phosphatidylinositol binding lung(5) 5 Prostate(80;0.0387) KIRC - Kidney renal clear cell carcinoma(527;0.0897)|Kidney(363;0.137) OV - Ovarian serous cystadenocarcinoma(64;0.000654)|Epithelial(69;0.0016)|all cancers(49;0.0139) CAAAGTCTTGGAACAGCGACG 0.333000 23 15 0 0 0.000958276 0 0 SLC16A14 151473 broad.mit.edu 37 2 230902218 230902218 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:230902218C>T uc002vqd.2 - 4 1870 c.1411G>A c.(1411-1413)Gat>Aat p.D471N FBXO36_uc010fxi.1_Intron NM_152527 NP_689740 Q7RTX9 MOT14_HUMAN Homo sapiens solute carrier family 16, member 14 (monocarboxylic acid transporter 14) (SLC16A14), mRNA. 471 integral to membrane|plasma membrane symporter activity p.D471N(2) NS(1)|cervix(1)|endometrium(7)|large_intestine(7)|lung(3)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.149)|Acute lymphoblastic leukemia(138;0.164) Epithelial(121;7.31e-13)|all cancers(144;5.1e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00948) AAGGAAAAATCATATTTTTGC 0.333000 34 25 0 0 0.000878237 0 0 CKAP5 9793 broad.mit.edu 37 11 46766034 46766034 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr11:46766034G>A uc001ndi.2 - 42 5924 c.5798C>T c.(5797-5799)tCt>tTt p.S1933F CKAP5_uc009ylg.1_Missense_Mutation_p.S1826F|CKAP5_uc001ndj.2_Missense_Mutation_p.S1873F|CKAP5_uc001ndh.1_Missense_Mutation_p.S862F NM_001008938 NP_001008938 Q14008 CKAP5_HUMAN Homo sapiens cytoskeleton associated protein 5 (CKAP5), transcript variant 1, mRNA. 1933 G2/M transition of mitotic cell cycle|RNA transport|cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|mitotic prometaphase|spindle organization centrosome|cytosol protein binding breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 43 CAAGTAGACAGATGGCCCCAC 0.522000 67 28 0 0 0.000720815 0 0 FLG 2312 broad.mit.edu 37 1 152282637 152282637 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:152282637C>T uc001ezu.1 - 2 4761 c.4725G>A c.(4723-4725)caG>caA p.Q1575Q NM_002016 NP_002007 P20930 FILA_HUMAN Homo sapiens filaggrin (FLG), mRNA. 1575 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity p.S1574*(1) autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CCTGGCCCACCTGTGAGTGTC 0.577000 Ichthyosis 70 115 0 0 0.00361006 0 0 LONRF2 164832 broad.mit.edu 37 2 100906787 100906787 + Missense_Mutation SNP C A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:100906787C>A uc002tal.4 - 9 2493 c.1853G>T c.(1852-1854)cGa>cTa p.R618L LONRF2_uc010yvs.2_Non-coding_Transcript NM_198461 NP_940863 Q1L5Z9 LONF2_HUMAN Homo sapiens LON peptidase N-terminal domain and ring finger 2 (LONRF2), mRNA. 618 Lon. proteolysis ATP-dependent peptidase activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 34 GCTTAGCACTCGGAACCGACT 0.448000 71 47 2.14674e-31 6.30791e-31 0.00361006 1 0 MIS18BP1 55320 broad.mit.edu 37 14 45675348 45675348 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr14:45675348G>A uc001wwf.3 - 14 3637 c.3178C>T c.(3178-3180)Cgt>Tgt p.R1060C NM_018353 NP_060823 Q6P0N0 M18BP_HUMAN Homo sapiens MIS18 binding protein 1 (MIS18BP1), mRNA. 1060 CenH3-containing nucleosome assembly at centromere|cell division|mitosis chromosome, centromeric region|nucleoplasm DNA binding NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2) 39 TTTTGCATACGAAAAACATAT 0.259000 37 12 0 0 0.000422831 0 0 SNRNP48 154007 broad.mit.edu 37 6 7606287 7606287 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr6:7606287C>T uc003mxr.3 + 7 889 c.830C>T c.(829-831)tCa>tTa p.S277L SNRNP48_uc003mxs.3_Non-coding_Transcript|SNRNP48_uc003mxt.1_Missense_Mutation_p.S29L NM_152551 NP_689764 Q6IEG0 SNR48_HUMAN Homo sapiens small nuclear ribonucleoprotein 48kDa (U11/U12) (SNRNP48), mRNA. 277 mRNA processing U12-type spliceosomal complex|cytoplasm metal ion binding kidney(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 10 CGATCAGCTTCAGTAGATTCA 0.413000 94 56 0 0 0.00361006 0 0 CD226 10666 broad.mit.edu 37 18 67614097 67614097 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr18:67614097C>T uc010dqo.3 - 1 702 c.255G>A c.(253-255)acG>acA p.T85T CD226_uc002lkm.4_Silent_p.T85T|CD226_uc021uli.1_Intron NM_006566 NP_006557 Q15762 CD226_HUMAN Homo sapiens CD226 molecule (CD226), mRNA. 85 Ig-like C2-type 1. cell adhesion|cell recognition|positive regulation of Fc receptor mediated stimulatory signaling pathway|positive regulation of immunoglobulin mediated immune response|positive regulation of mast cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target cell surface|integral to plasma membrane|membrane raft cell adhesion molecule binding|integrin binding|protein kinase binding|receptor activity breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(14)|prostate(1)|urinary_tract(1) 24 Esophageal squamous(42;0.129) TGGAAGCCATCGTTGAATTCA 0.458000 27 29 0 0 0.001512 0 0 KIAA2022 340533 broad.mit.edu 37 X 73962753 73962753 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chrX:73962753G>A uc004eby.3 - 2 2256 c.1639C>T c.(1639-1641)Cgc>Tgc p.R547C NM_001008537 NP_001008537 Q5QGS0 K2022_HUMAN Homo sapiens KIAA2022 (KIAA2022), mRNA. 547 DNA replication proofreading|DNA replication, removal of RNA primer|S phase of mitotic cell cycle|base-excision repair, gap-filling|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle delta DNA polymerase complex 3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity p.R547H(1)|p.N546I(1) breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3) 109 CCTTTAAAGCGATTAATGATG 0.403000 3 27 0 0 0.00127121 0 0 MORC1 27136 broad.mit.edu 37 3 108705748 108705748 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr3:108705748C>T uc003dxl.3 - 21 2323 c.2236G>A c.(2236-2238)Gaa>Aaa p.E746K MORC1_uc011bhn.2_Missense_Mutation_p.E725K NM_014429 NP_055244 Q86VD1 MORC1_HUMAN Homo sapiens MORC family CW-type zinc finger 1 (MORC1), mRNA. 746 cell differentiation|multicellular organismal development|spermatogenesis nucleus ATP binding|zinc ion binding breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3) 105 AGAGGAATTTCCTTTTTTTCT 0.279000 22 9 0 0 0.000442599 0 0 BFSP2 8419 broad.mit.edu 37 3 133166238 133166238 + Silent SNP A G G TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr3:133166238A>G uc003epn.1 + 1 705 c.567A>G c.(565-567)aaA>aaG p.K189K BC007984_uc003epo.3_Intron NM_003571 NP_003562 Q13515 BFSP2_HUMAN Homo sapiens beaded filament structural protein 2, phakinin (BFSP2), mRNA. 189 Rod. response to stimulus|visual perception cytoplasm|intermediate filament|membrane structural constituent of cytoskeleton|structural constituent of eye lens NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|urinary_tract(1) 13 ATGACTTTAAAGAGAGGTAAT 0.517000 35 8 0 0 0.00307968 0 0 THEM5 284486 broad.mit.edu 37 1 151820666 151820666 + Missense_Mutation SNP C G G TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:151820666C>G uc021oyw.1 - 3 699 c.567G>C c.(565-567)agG>agC p.R189S NM_182578 NP_872384 Q8N1Q8 THEM5_HUMAN Homo sapiens thioesterase superfamily member 5 (THEM5), mRNA. 189 hydrolase activity breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(2) 15 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14) LUSC - Lung squamous cell carcinoma(543;0.181) ACTTTTTGAACCTGATGTTGA 0.557000 33 48 0 0 0.00361006 0 0 TMEM144 55314 broad.mit.edu 37 4 159162695 159162695 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr4:159162695C>T uc003ipx.3 + 10 1357 c.837C>T c.(835-837)acC>acT p.T279T TMEM144_uc010iqi.3_Non-coding_Transcript NM_018342 NP_060812 Q7Z5S9 TM144_HUMAN Homo sapiens transmembrane protein 144 (TMEM144), mRNA. 279 integral to membrane autonomic_ganglia(1)|endometrium(1)|large_intestine(7)|lung(9)|prostate(1) 19 all_hematologic(180;0.24) Renal(120;0.0854) COAD - Colon adenocarcinoma(41;0.0539) CTATAGCTACCTGCTGTTGGT 0.418000 66 33 0 0 0.000953801 0 0 CT62 196993 broad.mit.edu 37 15 71403623 71403623 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr15:71403623C>T uc002ata.2 - 3 791 c.278G>A c.(277-279)cGg>cAg p.R93Q NM_001102658 NP_001096128 P0C5K7 CT62_HUMAN Homo sapiens cancer/testis antigen 62 (CT62), mRNA. 93 p.R93W(1) NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(2) 6 CTTGACATTCCGTCTGGAAAC 0.493000 30 24 0 0 0.00395357 0 0 ZFP30 22835 broad.mit.edu 37 19 38127197 38127197 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:38127197G>A uc002ogv.1 - 5 761 c.245C>T c.(244-246)tCc>tTc p.S82F ZFP30_uc002ogw.1_Missense_Mutation_p.S82F|ZFP30_uc002ogx.1_Missense_Mutation_p.S82F|ZFP30_uc010xtt.1_Missense_Mutation_p.S81F NM_014898 NP_055713 Q9Y2G7 ZFP30_HUMAN Homo sapiens zinc finger protein 30 homolog (mouse) (ZFP30), mRNA. 82 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding autonomic_ganglia(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(1) 21 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) GTCATATCTGGATTCCAAATC 0.294000 11 14 0 0 0.000422831 0 0 ZNF398 57541 broad.mit.edu 37 7 148863939 148863939 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr7:148863939C>T uc011kum.2 + 4 734 c.593C>T c.(592-594)tCt>tTt p.S198F ZNF398_uc011kul.2_Missense_Mutation_p.S22F|ZNF398_uc003wfl.3_Missense_Mutation_p.S193F NM_020781 NP_065832 Q8TD17 ZN398_HUMAN Homo sapiens zinc finger protein 398 (ZNF398), transcript variant 2, mRNA. 193 KRAB. positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(1) 25 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00143) GATGTCTTATCTCAGATTCAA 0.428000 3 15 0 0 0.000422831 0 0 ALPK3 57538 broad.mit.edu 37 15 85402590 85402590 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr15:85402590G>A uc002ble.3 + 6 4707 c.4540G>A c.(4540-4542)Gat>Aat p.D1514N NM_020778 NP_065829 Q96L96 ALPK3_HUMAN Homo sapiens alpha-kinase 3 (ALPK3), mRNA. 1514 Ig-like 2. heart development nucleus ATP binding|protein serine/threonine kinase activity NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 81 BRCA - Breast invasive adenocarcinoma(143;0.0587) ATGGGCCAAGGATCAGCGCCC 0.562000 18 21 0 0 0.00395357 0 0 KIF12 113220 broad.mit.edu 37 9 116854270 116854270 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr9:116854270C>T uc004bif.3 - 15 1651 c.1413G>A c.(1411-1413)ggG>ggA p.G471G KIF12_uc004big.3_Non-coding_Transcript NM_138424 NP_612433 Q96FN5 KIF12_HUMAN Homo sapiens kinesin family member 12 (KIF12), mRNA. 604 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1) 17 GGTTTGGAACCCCGGCCCCAC 0.667000 2 25 0 0 0.00395357 0 0 MYO15A 51168 broad.mit.edu 37 17 18023906 18023906 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr17:18023906G>A uc021trm.1 + 0 2011 c.1792G>A c.(1792-1794)Ggc>Agc p.G598S MYO15A_uc021trl.1_Missense_Mutation_p.G598S NM_016239 NP_057323 Q9UKN7 MYO15_HUMAN Homo sapiens myosin XVA (MYO15A), mRNA. 598 Myosin head-like. sensory perception of sound cytoplasm|myosin complex|stereocilium ATP binding|actin binding|calmodulin binding|motor activity p.A597P(1) breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 99 all_neural(463;0.228) GGCCCGGGCGGGCGGCCCTGC 0.697000 3 7 0 0 0.000673444 0 0 PKDREJ 10343 broad.mit.edu 37 22 46657351 46657351 + Missense_Mutation SNP C A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr22:46657351C>A uc003bhh.3 - 0 1869 c.1869G>T c.(1867-1869)ttG>ttT p.L623F NM_006071 NP_006062 Q9NTG1 PKDRE_HUMAN Homo sapiens polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin) (PKDREJ), mRNA. 623 REJ. acrosome reaction|neuropeptide signaling pathway integral to membrane calcium ion binding|ion channel activity NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2) 73 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.00459) ACTGAGGCCCCAAGTACAGGA 0.448000 132 7 0.00198382 0.00571265 0.00198382 1 0 BIRC8 112401 broad.mit.edu 37 19 53793363 53793363 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:53793363C>T uc002qbk.3 - 0 1513 c.265G>A c.(265-267)Gga>Aga p.G89R NM_033341 NP_203127 Q96P09 BIRC8_HUMAN Homo sapiens baculoviral IAP repeat containing 8 (BIRC8), mRNA. 89 apoptosis zinc ion binding p.E88E(1) NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|urinary_tract(1) 19 GBM - Glioblastoma multiforme(134;0.00304) ACCAGAGCTCCCTCAAGTGAA 0.393000 73 80 0 0 0.00361006 0 0 SPTA1 6708 broad.mit.edu 37 1 158596768 158596768 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:158596768C>T uc001fst.1 - 40 5893 c.5694G>A c.(5692-5694)gaG>gaA p.E1898E NM_003126 NP_003117 P02549 SPTA1_HUMAN Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA. 1898 actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6) 307 all_hematologic(112;0.0378) TGGAAGAAATCTCTTTGTTCT 0.423000 59 68 0 0 0.00361006 0 0 RBP2 5948 broad.mit.edu 37 3 139181108 139181108 + Missense_Mutation SNP A G G TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr3:139181108A>G uc003eth.3 - 1 149 c.98T>C c.(97-99)aTt>aCt p.I33T NM_004164 NP_004155 P50120 RET2_HUMAN Homo sapiens retinol binding protein 2, cellular (RBP2), mRNA. 33 epidermis development|retinoid metabolic process|steroid metabolic process|vitamin A metabolic process cytosol retinal binding|retinol binding|transporter activity breast(1)|large_intestine(1)|lung(7)|prostate(1)|skin(1)|urinary_tract(1) 12 Vitamin A(DB00162) ACGTACTGCAATCTTGCGGGT 0.418000 51 50 0 0 0.00361006 0 0 RHOH 399 broad.mit.edu 37 4 40245440 40245440 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr4:40245440C>T uc003guz.2 + 2 1158 c.434C>T c.(433-435)gCc>gTc p.A145V RHOH_uc021xnp.1_Missense_Mutation_p.A145V NM_004310 NP_004301 Q15669 RHOH_HUMAN Homo sapiens ras homolog gene family, member H (RHOH), mRNA. 145 T cell differentiation|negative regulation of I-kappaB kinase/NF-kappaB cascade|regulation of small GTPase mediated signal transduction|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction cytosol|mitochondrion|plasma membrane GTP binding|GTPase inhibitor activity|Rho GTPase binding|kinase inhibitor activity kidney(1)|large_intestine(3)|lung(7)|ovary(1) 12 GATGTCAGAGCCAAGGGCTAC 0.622000 18 12 0 0 0.000978159 0 0 ADH1C 126 broad.mit.edu 37 4 100273819 100273819 + RNA SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr4:100273819C>T uc021xqi.1 - 0 c.99G>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) GCTTACTTTTCCTGCTGTGCT 0.313000 42 27 0 0 0.0024448 0 0 C11orf24 53838 broad.mit.edu 37 11 68029501 68029501 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr11:68029501G>A uc001onr.4 - 3 1404 c.962C>T c.(961-963)tCc>tTc p.S321F NM_022338 NP_071733 Q96F05 CK024_HUMAN Homo sapiens chromosome 11 open reading frame 24 (C11orf24), mRNA. 321 Pro-rich. integral to membrane endometrium(3)|kidney(3)|large_intestine(3)|lung(3)|ovary(1) 13 TGTCGTGGGGGACATGGCCTC 0.637000 20 37 0 0 0.00128727 0 0 L1CAM 3897 broad.mit.edu 37 X 153135651 153135651 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chrX:153135651G>A uc004fjb.3 - 7 959 c.851C>T c.(850-852)cCa>cTa p.P284L L1CAM_uc004fjc.3_Missense_Mutation_p.P284L|L1CAM_uc010nuo.3_Missense_Mutation_p.P279L|L1CAM_uc004fjd.1_Missense_Mutation_p.P98L NM_000425 NP_000416 P32004 L1CAM_HUMAN Homo sapiens L1 cell adhesion molecule (L1CAM), transcript variant 1, mRNA. 284 Ig-like C2-type 3. axon guidance|blood coagulation|cell death|leukocyte migration integral to membrane p.P284T(1) NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 81 all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05) ACGGTCGGCTGGCATGGGGCC 0.617000 9 76 0 0 0.00361006 0 0 RIMS2 9699 broad.mit.edu 37 8 104922429 104922429 + Splice_Site SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr8:104922429G>A uc003yls.3 + 3 1267 c.1026_splice c.e3+1 p.L342_splice RIMS2_uc003ylp.3_Splice_Site_p.L564_splice|RIMS2_uc003ylw.2_Splice_Site_p.L372_splice|RIMS2_uc003ylq.3_Splice_Site_p.L372_splice|RIMS2_uc003ylr.3_Intron|RIMS2_uc003ylt.3_5'Flank NM_014677 NP_055492 Q9UQ26 RIMS2_HUMAN Homo sapiens regulating synaptic membrane exocytosis 2 (RIMS2), transcript variant 2, mRNA. 642 intracellular protein transport cell junction|presynaptic membrane Rab GTPase binding|metal ion binding NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1) 144 OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229) CAATGTCTTTGGTGAGACATG 0.368000 HNSCC(12;0.0054) 123 53 0 0 0.00361006 0 0 SPON2 10417 broad.mit.edu 37 4 1165760 1165760 + Missense_Mutation SNP T C C TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr4:1165760T>C uc003gco.4 - 1 429 c.100A>G c.(100-102)Atc>Gtc p.I34V SPON2_uc021xkj.1_Missense_Mutation_p.I34V|SPON2_uc010ibr.3_Missense_Mutation_p.I34V|SPON2_uc003gcm.1_5'Flank NM_012445 NP_036577 Q9BUD6 SPON2_HUMAN Homo sapiens spondin 2, extracellular matrix protein (SPON2), transcript variant 1, mRNA. 34 Spondin. axon guidance|cell adhesion|innate immune response proteinaceous extracellular matrix metal ion binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|pancreas(1)|skin(1) 9 OV - Ovarian serous cystadenocarcinoma(23;0.00805) UCEC - Uterine corpus endometrioid carcinoma (64;0.139)|Colorectal(103;0.19) GCGGAACAGATGGACTCTCCC 0.687000 33 19 0 0 0.00229938 0 0 MLL5 55904 broad.mit.edu 37 7 104752740 104752740 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr7:104752740G>A uc003vcm.3 + 26 5071 c.4537G>A c.(4537-4539)Gca>Aca p.A1513T MLL5_uc010ljc.3_Missense_Mutation_p.A1513T|MLL5_uc010ljf.1_Intron|MLL5_uc010ljg.3_Missense_Mutation_p.A247T NM_182931 NP_891847 Q8IZD2 MLL5_HUMAN Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 5 (trithorax homolog, Drosophila) (MLL5), transcript variant 1, mRNA. 1513 Pro-rich. DNA methylation|cell cycle arrest|cellular response to retinoic acid|erythrocyte differentiation|neutrophil activation|neutrophil mediated immunity|positive regulation of granulocyte differentiation|positive regulation of transcription, DNA-dependent|retinoic acid receptor signaling pathway|transcription, DNA-dependent MLL5-L complex|nuclear speck enzyme binding|histone methyltransferase activity (H3-K4 specific)|transcription coactivator activity|zinc ion binding NS(1)|breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(13)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2) 63 TACTCAGCAGGCAACTTCTGG 0.478000 36 84 0 0 0.00361006 0 0 LRP5L 91355 broad.mit.edu 37 22 25753393 25753393 + Splice_Site SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr22:25753393G>A uc003abs.3 - 2 2732 c.267_splice c.e2-1 p.G89_splice LRP5L_uc011ajz.2_Splice_Site_p.G89_splice|LRP5L_uc010guw.1_Splice_Site_p.G89_splice NM_182492 NP_872298 A4QPB2 LRP5L_HUMAN Homo sapiens low density lipoprotein receptor-related protein 5-like (LRP5L), transcript variant 1, mRNA. 89 central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(2) 6 AGTACGTGAGGCTGGAGAAGA 0.602000 56 24 0 0 0.00106085 0 0 ITPRIP 85450 broad.mit.edu 37 10 106074292 106074292 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr10:106074292G>A uc001kyf.3 - 2 1971 c.1518C>T c.(1516-1518)ttC>ttT p.F506F ITPRIP_uc001kye.3_Silent_p.F506F|ITPRIP_uc001kyg.3_Silent_p.F506F|ITPRIP_uc021pxv.1_Silent_p.F506F NM_033397 NP_203755 Q8IWB1 IPRI_HUMAN Homo sapiens inositol 1,4,5-trisphosphate receptor interacting protein (ITPRIP), mRNA. 506 plasma membrane breast(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(9)|upper_aerodigestive_tract(1) 20 GCTGCAGGACGAAGGGCCGGA 0.587000 9 37 0 0 0.00148497 0 0 PDGFRA 5156 broad.mit.edu 37 4 55155000 55155000 + Silent SNP T C C TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr4:55155000T>C uc003han.4 + 19 3040 c.2709T>C c.(2707-2709)tcT>tcC p.S903S PDGFRA_uc003haa.3_Silent_p.S663S NM_006206 NP_006197 P16234 PGFRA_HUMAN Homo sapiens platelet-derived growth factor receptor, alpha polypeptide (PDGFRA), mRNA. 903 Protein kinase. 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) TGGTGGATTCTACTTTCTACA 0.512000 """Mis, O, T""" FIP1L1 """GIST, idiopathic hypereosinophilic syndrome, paediatric GBM""" Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis TSP Lung(21;0.16) 21 30 0 0 0.00178596 0 0 FCRL3 115352 broad.mit.edu 37 1 157667079 157667079 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:157667079C>T uc001fqz.4 - 5 987 c.695G>A c.(694-696)aGc>aAc p.S232N FCRL3_uc001fqx.4_Non-coding_Transcript|FCRL3_uc001fqy.4_Non-coding_Transcript|FCRL3_uc009wsn.3_Intron|FCRL3_uc009wso.3_Non-coding_Transcript|FCRL3_uc001fra.3_5'UTR|FCRL3_uc001frb.3_Missense_Mutation_p.S232N|FCRL3_uc001frc.1_Missense_Mutation_p.S232N NM_052939 NP_443171 Q96P31 FCRL3_HUMAN Homo sapiens Fc receptor-like 3 (FCRL3), mRNA. 232 Ig-like C2-type 3. integral to membrane|plasma membrane receptor activity autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2) 69 all_hematologic(112;0.0378) GAGGGTCTGGCTATCTCTGAA 0.587000 39 50 0 0 0.00361006 0 0 SPRED2 200734 broad.mit.edu 37 2 65543943 65543943 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:65543943G>A uc002sdr.4 - 4 1048 c.513C>T c.(511-513)tcC>tcT p.S171S SPRED2_uc010fcw.3_Silent_p.S168S NM_181784 NP_861449 Q7Z698 SPRE2_HUMAN Homo sapiens sprouty-related, EVH1 domain containing 2 (SPRED2), transcript variant 1, mRNA. 171 inactivation of MAPK activity|multicellular organismal development transport vesicle membrane stem cell factor receptor binding breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(7)|ovary(2)|upper_aerodigestive_tract(3) 34 GGTGCTCACAGGATGTGGGAG 0.527000 27 23 0 0 0.00278032 0 0 ZC3H7B 23264 broad.mit.edu 37 22 41739503 41739503 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr22:41739503C>T uc003azw.3 + 12 1598 c.1382C>T c.(1381-1383)tCg>tTg p.S461L NM_017590 NP_060060 Q9UGR2 Z3H7B_HUMAN Homo sapiens zinc finger CCCH-type containing 7B (ZC3H7B), mRNA. 477 interspecies interaction between organisms nucleus nucleic acid binding|protein binding|zinc ion binding p.S461S(1) breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 38 CTCCGGAGCTCGGAGGACCAG 0.677000 45 44 0 0 0.00285205 0 0 PMFBP1 83449 broad.mit.edu 37 16 72170436 72170436 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr16:72170436C>T uc002fcc.4 - 8 1286 c.1114G>A c.(1114-1116)Gat>Aat p.D372N PMFBP1_uc002fcd.3_Missense_Mutation_p.D372N|PMFBP1_uc002fce.3_Non-coding_Transcript|PMFBP1_uc002fcf.3_Missense_Mutation_p.D227N NM_031293 NP_112583 Q8TBY8 PMFBP_HUMAN Homo sapiens polyamine modulated factor 1 binding protein 1 (PMFBP1), transcript variant 1, mRNA. 372 NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1) 45 Ovarian(137;0.179) ATGTCCTTATCCTTCCTCTCA 0.552000 31 57 0 0 0.00361006 0 0 ZNF585A 199704 broad.mit.edu 37 19 37644020 37644020 + Nonsense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:37644020G>A uc002ofo.1 - 4 1012 c.781C>T c.(781-783)Cag>Tag p.Q261* ZNF585A_uc002ofm.1_Nonsense_Mutation_p.Q206*|ZNF585A_uc002ofn.1_Nonsense_Mutation_p.Q206* NM_199126 NP_954577 Q6P3V2 Z585A_HUMAN Homo sapiens zinc finger protein 585A (ZNF585A), transcript variant 2, mRNA. 261 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding breast(4)|central_nervous_system(1)|endometrium(2)|large_intestine(17)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 42 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) TGGATTTTCTGATGCATCTTG 0.433000 71 51 0 0 0.00361006 0 0 C9orf131 138724 broad.mit.edu 37 9 35044082 35044082 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr9:35044082G>A uc003zvw.3 + 1 1485 c.1456G>A c.(1456-1458)Ggc>Agc p.G486S C9orf131_uc003zvu.3_Missense_Mutation_p.G438S|C9orf131_uc003zvv.3_Missense_Mutation_p.G413S|C9orf131_uc003zvx.3_Missense_Mutation_p.G451S NM_203299 NP_976044 Q5VYM1 CI131_HUMAN Homo sapiens chromosome 9 open reading frame 131 (C9orf131), transcript variant 1, mRNA. 486 cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1) 39 all_epithelial(49;0.22) LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309) TCTAGTAATGGGCCCCCAGGG 0.537000 8 49 0 0 0.00361006 0 0 PLCL1 5334 broad.mit.edu 37 2 198948707 198948707 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:198948707G>A uc010fsp.3 + 1 864 c.466G>A c.(466-468)Gcc>Acc p.A156T PLCL1_uc002uuv.4_Missense_Mutation_p.A77T NM_006226 NP_006217 Q15111 PLCL1_HUMAN Homo sapiens phospholipase C-like 1 (PLCL1), mRNA. 156 Interaction with PPP1C.|PH. intracellular signal transduction|lipid metabolic process cytoplasm calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 80 Quinacrine(DB01103) CCTCGAGAAAGCCAAGCTTGA 0.453000 53 44 0 0 0.00195071 0 0 STAB2 55576 broad.mit.edu 37 12 104099426 104099426 + Missense_Mutation SNP G T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr12:104099426G>T uc001tjw.3 + 36 4103 c.3917G>T c.(3916-3918)aGa>aTa p.R1306I NM_017564 NP_060034 Q8WWQ8 STAB2_HUMAN Homo sapiens stabilin 2 (STAB2), mRNA. 1306 angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis cytoplasm|external side of plasma membrane|integral to plasma membrane Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2) 174 GAGAAGAGGAGATGCATCTAT 0.413000 17 18 1.33834e-09 3.89031e-09 0.000958276 1 0 GK2 2712 broad.mit.edu 37 4 80329126 80329126 + Missense_Mutation SNP C T T rs149134428 TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr4:80329126C>T uc003hlu.3 - 0 247 c.229G>A c.(229-231)Gaa>Aaa p.E77K NM_033214 NP_149991 Q14410 GLPK2_HUMAN Homo sapiens glycerol kinase 2 (GK2), mRNA. 77 glycerol-3-phosphate metabolic process mitochondrial outer membrane ATP binding|glycerol kinase activity 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 ATATTCAGTTCGTCAAGTTTC 0.418000 36 33 0 0 0.0024448 0 0 LIMA1 51474 broad.mit.edu 37 12 50571299 50571300 + Missense_Mutation DNP GG TT TT TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr12:50571299_50571300GG>TT uc001rwj.4 - 10 2001_2002 c.1827_1828CC>AA c.(1825-1830)tcccca>tcAAca p.P610T LIMA1_uc001rwg.4_Missense_Mutation_p.P308T|LIMA1_uc001rwh.4_Missense_Mutation_p.P449T|LIMA1_uc001rwi.4_Missense_Mutation_p.P451T|LIMA1_uc001rwk.4_Missense_Mutation_p.P611T|LIMA1_uc010sms.2_Non-coding_Transcript|LIMA1_uc010smr.2_Non-coding_Transcript NM_016357 NP_001230704 Q9UHB6 LIMA1_HUMAN Homo sapiens LIM domain and actin binding 1 (LIMA1), transcript variant 2, mRNA. 610 actin filament bundle assembly|negative regulation of actin filament depolymerization|ruffle organization cytoplasm|focal adhesion|stress fiber actin filament binding|actin monomer binding|zinc ion binding p.P610Q(1) NS(1)|breast(4)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(2) 44 CTGATAGGTGGGGACACAGTTT 0.475000 327 11 0 0 6.4e-05 0 0 CUX1 1523 broad.mit.edu 37 7 101844695 101844695 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr7:101844695C>T uc003uys.4 + 17 2278 c.2151C>T c.(2149-2151)atC>atT p.I717I CUX1_uc003uyw.3_Intron|CUX1_uc003uyv.3_Intron|CUX1_uc003uyt.3_Intron|CUX1_uc003uyu.3_Intron|CUX1_uc011kkn.2_Intron|CUX1_uc003uyx.4_Silent_p.I706I NM_001202543 NP_001189472 P39880 CUX1_HUMAN Homo sapiens cut-like homeobox 1 (CUX1), transcript variant 4, mRNA. 706 negative regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5) 70 ATGACGCCATCCGCTCCATCC 0.657000 125 39 0 0 0.00148497 0 0 ANO3 63982 broad.mit.edu 37 11 26569067 26569067 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr11:26569067G>A uc001mqt.4 + 11 1404 c.1259G>A c.(1258-1260)gGa>gAa p.G420E ANO3_uc010rdr.2_Missense_Mutation_p.G404E|ANO3_uc010rds.2_Missense_Mutation_p.G259E|ANO3_uc010rdt.2_Missense_Mutation_p.G274E NM_031418 NP_113606 Q9BYT9 ANO3_HUMAN Homo sapiens anoctamin 3 (ANO3), mRNA. 420 chloride channel complex chloride channel activity breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 68 TTCTTCTATGGATTATTTACA 0.348000 69 63 0 0 0.00361006 0 0 ANKRD20A9P 284232 broad.mit.edu 37 13 19412846 19412846 + RNA SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr13:19412846C>T uc010tcj.1 - 0 c.33264G>A Homo sapiens ankyrin repeat domain 20 family, member A9, pseudogene (ANKRD20A9P), non-coding RNA. TGTCATTTTTCATTATGCATA 0.294000 72 32 0 0 0.00178596 0 0 N4BP2 55728 broad.mit.edu 37 4 40104811 40104811 + Missense_Mutation SNP C G G TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr4:40104811C>G uc003guy.4 + 3 1684 c.1346C>G c.(1345-1347)cCg>cGg p.P449R N4BP2_uc010ifq.3_Missense_Mutation_p.P369R|N4BP2_uc010ifr.3_Missense_Mutation_p.P369R NM_018177 NP_060647 Q86UW6 N4BP2_HUMAN Homo sapiens NEDD4 binding protein 2 (N4BP2), mRNA. 449 cytoplasm ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1) 60 AGAGGTCTTCCGGGATCTGGA 0.363000 31 13 0 0 0.00316338 0 0 BEST1 7439 broad.mit.edu 37 11 61727035 61727035 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr11:61727035C>T uc001nsr.2 + 6 1325 c.753C>T c.(751-753)gtC>gtT p.V251V BEST1_uc010rlq.1_Missense_Mutation_p.S319L|BEST1_uc010rlr.1_Intron|BEST1_uc010rls.1_Intron|BEST1_uc001nss.3_Silent_p.V311V|BEST1_uc009ynt.3_Non-coding_Transcript|BEST1_uc010rlt.2_Silent_p.V251V|BEST1_uc001nst.3_Intron|BEST1_uc010rlu.1_Missense_Mutation_p.S273L|BEST1_uc010rlv.2_Silent_p.V205V NM_001139443 NP_001132915 O76090 BEST1_HUMAN Homo sapiens bestrophin 1 (BEST1), transcript variant 2, mRNA. 311 response to stimulus|transepithelial chloride transport|visual perception basolateral plasma membrane|chloride channel complex|cytosol|membrane fraction chloride channel activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|skin(2)|urinary_tract(2) 25 ACTGGATTGTCGACAGGAATT 0.537000 16 24 0 0 0.00332997 0 0 SLITRK2 84631 broad.mit.edu 37 X 144905507 144905507 + Missense_Mutation SNP A G G TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chrX:144905507A>G uc022cfn.1 + 0 1564 c.1564A>G c.(1564-1566)Atc>Gtc p.I522V SLITRK2_uc004fcd.3_Missense_Mutation_p.I522V|SLITRK2_uc010nsp.3_Missense_Mutation_p.I522V|SLITRK2_uc010nso.3_Missense_Mutation_p.I522V|SLITRK2_uc011mwq.2_Missense_Mutation_p.I522V|SLITRK2_uc011mwr.2_Missense_Mutation_p.I522V|SLITRK2_uc011mws.2_Missense_Mutation_p.I522V|SLITRK2_uc004fcg.3_Missense_Mutation_p.I522V|SLITRK2_uc011mwt.2_Missense_Mutation_p.I522V NM_032539 NP_115928 Q9H156 SLIK2_HUMAN Homo sapiens SLIT and NTRK-like family, member 2 (SLITRK2), transcript variant 1, mRNA. 522 integral to membrane NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 86 Acute lymphoblastic leukemia(192;6.56e-05) CCCGGCTTTCATCCAGATAGA 0.498000 5 22 0 0 0.00229938 0 0 GABRG1 2565 broad.mit.edu 37 4 46053484 46053484 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr4:46053484C>T uc003gxb.3 - 7 1240 c.1088G>A c.(1087-1089)gGa>gAa p.G363E NM_173536 NP_775807 Q8N1C3 GBRG1_HUMAN Homo sapiens gamma-aminobutyric acid (GABA) A receptor, gamma 1 (GABRG1), mRNA. 363 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 76 Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23) AGCAGTCTTTCCTTTTTGGTT 0.328000 10 7 0 0 0.00198382 0 0 RGL1 23179 broad.mit.edu 37 1 183857695 183857695 + Missense_Mutation SNP T C C TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:183857695T>C uc001gqm.3 + 8 1605 c.1144T>C c.(1144-1146)Tgg>Cgg p.W382R RGL1_uc010pof.1_Missense_Mutation_p.W152R|RGL1_uc010pog.2_Missense_Mutation_p.W345R|RGL1_uc010poh.2_Missense_Mutation_p.W345R|RGL1_uc001gqo.3_Missense_Mutation_p.W347R|RGL1_uc010poi.2_Missense_Mutation_p.W347R NM_015149 NP_055964 Q9NZL6 RGL1_HUMAN Homo sapiens ral guanine nucleotide dissociation stimulator-like 1 (RGL1), mRNA. 347 Ras-GEF. cellular lipid metabolic process|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction intracellular Ral guanyl-nucleotide exchange factor activity|protein binding breast(5)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(17)|ovary(4)|prostate(3)|stomach(1) 51 AAAAAAGACTTGGGCTGCCGT 0.468000 83 30 0 0 0.00106085 0 0 LOC100133308 100133308 broad.mit.edu 37 10 45602574 45602574 + RNA SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr10:45602574C>T uc001jby.3 - 0 c.863G>A LOC100133308_uc001jbz.3_Intron|LOC100133308_uc009xmq.2_Intron Homo sapiens Ras suppressor protein 1 pseudogene (LOC100133308), non-coding RNA. GGCATGGAACCCAACCATTTG 0.433000 7 6 0 0 0.00116845 0 0 ANKRD11 29123 broad.mit.edu 37 16 89345505 89345505 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr16:89345505G>A uc002fmx.1 - 8 7906 c.7445C>T c.(7444-7446)cCg>cTg p.P2482L ANKRD11_uc002fmy.1_Missense_Mutation_p.P2482L|ANKRD11_uc002fnc.1_Missense_Mutation_p.P2482L|ANKRD11_uc002fna.1_Missense_Mutation_p.P147L|ANKRD11_uc002fnb.1_Missense_Mutation_p.P2439L NM_013275 NP_037407 Q6UB99 ANR11_HUMAN Homo sapiens ankyrin repeat domain 11 (ANKRD11), transcript variant 2, mRNA. 2482 nucleus breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 83 all_hematologic(23;0.00824)|Colorectal(91;0.0475) Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142) CTTGCTGAGCGGCTTGCCGTC 0.657000 29 5 0 0 0.00116845 0 0 ZNF676 163223 broad.mit.edu 37 19 22375878 22375878 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:22375878G>A uc002nqs.1 - 1 388 c.70C>T c.(70-72)Ctg>Ttg p.L24L NM_001001411 NP_001001411 Q8N7Q3 ZN676_HUMAN Homo sapiens zinc finger protein 676 (ZNF676), mRNA. 24 KRAB. 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) CCTTGCTCCAGAAAAATGATC 0.403000 23 38 0 0 0.00170553 0 0 PZP 5858 broad.mit.edu 37 12 9353559 9353559 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr12:9353559C>T uc001qvl.3 - 5 628 c.599G>A c.(598-600)gGc>gAc p.G200D PZP_uc009zgl.3_Missense_Mutation_p.G69D NM_002864 NP_002855 Homo sapiens pregnancy-zone protein (PZP), mRNA. breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5) 102 CCTGTAGGAGCCCTGAATGGG 0.483000 29 69 0 0 0.00361006 0 0 SCNN1G 6340 broad.mit.edu 37 16 23197754 23197754 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr16:23197754C>T uc002dlm.1 + 1 301 c.162C>T c.(160-162)ctC>ctT p.L54L NM_001039 NP_001030 P51170 SCNNG_HUMAN Homo sapiens sodium channel, nonvoltage-gated 1, gamma (SCNN1G), mRNA. 54 excretion|sensory perception of taste apical plasma membrane|integral to plasma membrane WW domain binding|ligand-gated sodium channel activity p.R53C(1) NS(2)|autonomic_ganglia(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 34 GBM - Glioblastoma multiforme(48;0.0366) Amiloride(DB00594)|Triamterene(DB00384) TGCGCCGCCTCCTCTGGATCG 0.607000 39 17 0 0 0.000958276 0 0 STARD4 134429 broad.mit.edu 37 5 110835631 110835631 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr5:110835631C>T uc003kph.1 - 5 655 c.571G>A c.(571-573)Gca>Aca p.A191T STARD4_uc010jbw.1_Missense_Mutation_p.A93T|STARD4_uc010jbx.1_Missense_Mutation_p.A93T|STARD4_uc003kpi.1_Non-coding_Transcript NM_139164 NP_631903 Q96DR4 STAR4_HUMAN Homo sapiens StAR-related lipid transfer (START) domain containing 4 (STARD4), mRNA. 191 START. lipid transport lipid binding p.A191T(2) cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1) 12 all_cancers(142;0.00259)|all_epithelial(76;8.32e-05)|Prostate(80;0.0115)|Colorectal(10;0.0959)|Ovarian(225;0.156)|all_lung(232;0.18)|Lung NSC(167;0.248) OV - Ovarian serous cystadenocarcinoma(64;4.91e-09)|Epithelial(69;1.39e-08)|all cancers(49;2.34e-06)|COAD - Colon adenocarcinoma(37;0.049)|Colorectal(14;0.138) AAAGTGCTTGCCATGGCTGTA 0.408000 53 20 0 0 0.00278032 0 0 EFEMP1 2202 broad.mit.edu 37 2 56098174 56098174 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:56098174C>T uc002rzi.3 - 9 1586 c.1085G>A c.(1084-1086)cGa>cAa p.R362Q EFEMP1_uc002rzj.3_Missense_Mutation_p.R362Q|EFEMP1_uc010ypc.2_Missense_Mutation_p.R224Q NM_001039348 NP_001034438 Q12805 FBLN3_HUMAN Homo sapiens EGF containing fibulin-like extracellular matrix protein 1 (EFEMP1), transcript variant 2, mRNA. 362 EGF-like 6; calcium-binding (Potential).|Mediates interaction with TIMP3. negative regulation of chondrocyte differentiation|peptidyl-tyrosine phosphorylation|regulation of transcription, DNA-dependent|visual perception extracellular space|proteinaceous extracellular matrix calcium ion binding|epidermal growth factor receptor activity|epidermal growth factor receptor binding|growth factor activity NS(1)|breast(2)|endometrium(4)|large_intestine(6)|lung(5)|ovary(5)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 28 LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132) ACAAGGATTTCGTGGATAACA 0.413000 24 30 0 0 0.00209593 0 0 SPATA5 166378 broad.mit.edu 37 4 124177183 124177183 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr4:124177183C>T uc003iez.4 + 14 2426 c.2353C>T c.(2353-2355)Cct>Tct p.P785S NM_145207 NP_660208 Q8NB90 SPAT5_HUMAN Homo sapiens spermatogenesis associated 5 (SPATA5), mRNA. 785 cell differentiation|multicellular organismal development|spermatogenesis mitochondrion ATP binding|nucleoside-triphosphatase activity endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 24 TTTGATGCGGCCTGGAAGAAT 0.408000 28 20 0 0 0.00395357 0 0 SLCO1B3 28234 broad.mit.edu 37 12 21014014 21014014 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr12:21014014C>T uc010sil.2 + 3 488 c.423C>T c.(421-423)acC>acT p.T141T SLCO1B3_uc001rek.3_Silent_p.T141T|SLCO1B3_uc001rel.3_Silent_p.T141T|SLCO1B3_uc010sim.2_Intron Q9NPD5 SO1B3_HUMAN Homo sapiens solute carrier organic anion transporter family, member 1B3 (SLCO1B3), mRNA. 141 bile acid metabolic process|sodium-independent organic anion transport basolateral plasma membrane|cytoplasm|integral to plasma membrane bile acid transmembrane transporter activity|organic anion transmembrane transporter activity breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2) 63 Esophageal squamous(101;0.149) GTTTATCAACCTGTTTAATTA 0.284000 40 31 0 0 0.001512 0 0 SHROOM2 357 broad.mit.edu 37 X 9907344 9907344 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chrX:9907344G>A uc004csu.1 + 7 4339 c.4249G>A c.(4249-4251)Gag>Aag p.E1417K SHROOM2_uc004csv.2_Missense_Mutation_p.E252K|SHROOM2_uc011mic.1_Missense_Mutation_p.E252K|SHROOM2_uc004csw.1_Missense_Mutation_p.E252K NM_001649 NP_001640 Q13796 SHRM2_HUMAN Homo sapiens shroom family member 2 (SHROOM2), mRNA. 1417 ASD2. apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization apical plasma membrane|cell-cell adherens junction|microtubule|tight junction actin filament binding|beta-catenin binding|ligand-gated sodium channel activity breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2) 57 Hepatocellular(5;0.000888) GGACCTGCAGGAGCAGCAGGA 0.602000 1 8 0 0 0.000274275 0 0 KIF4B 285643 broad.mit.edu 37 5 154395457 154395457 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr5:154395457C>T uc010jih.1 + 0 2198 c.2038C>T c.(2038-2040)Cgt>Tgt p.R680C NM_001099293 NP_001092763 Q2VIQ3 KIF4B_HUMAN Homo sapiens kinesin family member 4B (KIF4B), mRNA. 680 Interaction with PRC1 (By similarity). R -> H (in dbSNP:rs17116710). axon guidance|blood coagulation|microtubule-based movement cytosol|microtubule|nuclear matrix ATP binding|DNA binding|microtubule motor activity breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1) 58 Renal(175;0.00488) Medulloblastoma(196;0.0523) KIRC - Kidney renal clear cell carcinoma(527;0.00112) AGAACGAGACCGTAAGAGGCA 0.433000 43 75 0 0 0.00361006 0 0 VWA3B 200403 broad.mit.edu 37 2 98928305 98928305 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:98928305C>T uc002syo.3 + 26 3809 c.3545C>T c.(3544-3546)tCt>tTt p.S1182F VWA3B_uc002syn.1_Non-coding_Transcript|VWA3B_uc010yvi.1_Missense_Mutation_p.S839F|VWA3B_uc002syp.1_Missense_Mutation_p.S574F|VWA3B_uc002syq.1_Missense_Mutation_p.S458F|VWA3B_uc002syr.1_Missense_Mutation_p.S499F|VWA3B_uc002sys.3_Non-coding_Transcript NM_144992 NP_659429 Q502W6 VWA3B_HUMAN Homo sapiens von Willebrand factor A domain containing 3B (VWA3B), mRNA. 1182 NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 70 GCGAGGAACTCTGCTTTCCTC 0.572000 16 15 0 0 0.000566183 0 0 IRGC 56269 broad.mit.edu 37 19 44224036 44224036 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:44224036G>A uc002oxh.3 + 1 1473 c.1326G>A c.(1324-1326)agG>agA p.R442R IRGC_uc021uvh.1_Silent_p.R442R NM_019612 NP_062558 Q6NXR0 IIGP5_HUMAN Homo sapiens immunity-related GTPase family, cinema (IRGC), mRNA. 442 membrane GTP binding|hydrolase activity, acting on acid anhydrides central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(2) 25 Prostate(69;0.0435) CAACCTGCAGGAAGCTCGGCC 0.597000 20 11 0 0 0.000978159 0 0 ZNF597 146434 broad.mit.edu 37 16 3486990 3486991 + Missense_Mutation DNP CC TT TT TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr16:3486990_3486991CC>TT uc002cvd.3 - 3 892_893 c.708_709GG>AA c.(706-711)aaggag>aaAAag p.E237K NM_152457 NP_689670 Q96LX8 ZN597_HUMAN Homo sapiens zinc finger protein 597 (ZNF597), mRNA. 237 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|urinary_tract(1) 13 TAGGGCTTCTCCTTTACGTGGC 0.475000 47 18 0 0 6.4e-05 0 0 CNGA3 1261 broad.mit.edu 37 2 99013442 99013442 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:99013442G>A uc010fij.3 + 7 1962 c.1821G>A c.(1819-1821)cgG>cgA p.R607R CNGA3_uc002syt.3_Silent_p.R603R|CNGA3_uc002syu.3_Silent_p.R585R Q16281 CNGA3_HUMAN Homo sapiens cyclic nucleotide gated channel alpha 3 (CNGA3), transcript variant 1, mRNA. 603 signal transduction|visual perception integral to membrane cGMP binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3) 49 AGAAAGGACGGCAGATCCTGA 0.602000 15 18 0 0 0.00074312 0 0 PLEKHB2 55041 broad.mit.edu 37 2 131897829 131897829 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:131897829C>T uc002tsi.4 + 5 1220 c.636C>T c.(634-636)ccC>ccT p.P212P PLEKHB2_uc002tsh.2_Intron|PLEKHB2_uc002tsg.4_Silent_p.P171P|PLEKHB2_uc002tsj.4_Silent_p.P170P|PLEKHB2_uc002tsf.4_Silent_p.P179P|PLEKHB2_uc010zap.2_Intron|PLEKHB2_uc010zaq.2_Missense_Mutation_p.P127L|PLEKHB2_uc010zao.2_Silent_p.P121P NM_001100623 NP_001094093 Q96CS7 PKHB2_HUMAN Homo sapiens pleckstrin homology domain containing, family B (evectins) member 2 (PLEKHB2), transcript variant 3, mRNA. 171 membrane protein binding large_intestine(1)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 9 BRCA - Breast invasive adenocarcinoma(221;0.0828) ATGCCGTGCCCTACCAGTACC 0.502000 15 18 0 0 0.00121646 0 0 ZNF572 137209 broad.mit.edu 37 8 125988914 125988914 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr8:125988914C>T uc003yrr.3 + 2 559 c.404C>T c.(403-405)tCc>tTc p.S135F NM_152412 NP_689625 Q7Z3I7 ZN572_HUMAN Homo sapiens zinc finger protein 572 (ZNF572), mRNA. 135 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(3) 31 Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108) STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205) TATAAATGTTCCGAATGTTGG 0.438000 HNSCC(60;0.17) 53 64 0 0 0.00361006 0 0 KDM2B 84678 broad.mit.edu 37 12 121972449 121972449 + Missense_Mutation SNP C A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr12:121972449C>A uc001uat.3 - 6 834 c.730G>T c.(730-732)Gac>Tac p.D244Y KDM2B_uc001uas.3_Missense_Mutation_p.D213Y|KDM2B_uc021rfd.1_Missense_Mutation_p.D213Y|KDM2B_uc001uau.3_Missense_Mutation_p.D127Y|KDM2B_uc021rfe.1_Missense_Mutation_p.D244Y|KDM2B_uc001uav.4_Missense_Mutation_p.D244Y NM_032590 NP_115979 Q8NHM5 KDM2B_HUMAN Homo sapiens lysine (K)-specific demethylase 2B (KDM2B), transcript variant 1, mRNA. 244 JmjC. embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent nucleolus DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 19 CCTCCAAAGTCGATGTGGAAG 0.478000 36 43 4.64027e-19 1.35759e-18 0.00361006 1 0 NOVA1 4857 broad.mit.edu 37 14 26917793 26917793 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr14:26917793G>A uc001wqa.3 - 5 1316 c.530C>T c.(529-531)gCc>gTc p.A177V NOVA1_uc001wpy.3_Missense_Mutation_p.A299V|NOVA1_uc001wpz.3_Missense_Mutation_p.A275V NM_002515 NP_002506 P51513 NOVA1_HUMAN Homo sapiens neuro-oncological ventral antigen 1 (NOVA1), transcript variant 1, mRNA. 302 KH 2. RNA splicing|locomotory behavior|synaptic transmission nucleus RNA binding p.I177I(1)|p.I177L(1) breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 40 GBM - Glioblastoma multiforme(265;0.0135) TGCTGGAAAGGCTGCAACGCC 0.473000 26 25 0 0 0.00395357 0 0 ZNF28 7576 broad.mit.edu 37 19 53304241 53304241 + Missense_Mutation SNP A C C TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:53304241A>C uc002qad.3 - 3 1014 c.857T>G c.(856-858)cTc>cGc p.L286R ZNF28_uc002qac.3_Missense_Mutation_p.L232R|ZNF28_uc010eqe.3_Missense_Mutation_p.L232R|ZNF28_uc021uza.1_Missense_Mutation_p.L233R NM_006969 NP_008900 P17035 ZNF28_HUMAN Homo sapiens zinc finger protein 28 (ZNF28), transcript variant 1, mRNA. 286 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145) GTGAAGGAAGAGGGATGTATT 0.403000 135 27 0 0 0.000720815 0 0 KIAA0090 23065 broad.mit.edu 37 1 19566418 19566418 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:19566418G>A uc001bbo.3 - 7 891 c.848C>T c.(847-849)cCa>cTa p.P283L KIAA0090_uc001bbp.3_Missense_Mutation_p.P283L|KIAA0090_uc001bbq.3_Missense_Mutation_p.P283L|KIAA0090_uc001bbr.3_Missense_Mutation_p.P261L NM_015047 NP_055862 Q8N766 K0090_HUMAN Homo sapiens KIAA0090 (KIAA0090), mRNA. 283 integral to membrane protein binding NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1) 25 Colorectal(325;0.000147)|Renal(390;0.000469)|Breast(348;0.00366)|all_lung(284;0.00519)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707) UCEC - Uterine corpus endometrioid carcinoma (279;0.00492)|BRCA - Breast invasive adenocarcinoma(304;3.84e-05)|Kidney(64;0.000191)|KIRC - Kidney renal clear cell carcinoma(64;0.00274)|GBM - Glioblastoma multiforme(114;0.005)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0656) AGCGTCCACTGGGTTGGGCTG 0.532000 46 16 0 0 0.00316338 0 0 N4BP2 55728 broad.mit.edu 37 4 40104513 40104513 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr4:40104513C>T uc003guy.4 + 3 1386 c.1048C>T c.(1048-1050)Ctc>Ttc p.L350F N4BP2_uc010ifq.3_Missense_Mutation_p.L270F|N4BP2_uc010ifr.3_Missense_Mutation_p.L270F NM_018177 NP_060647 Q86UW6 N4BP2_HUMAN Homo sapiens NEDD4 binding protein 2 (N4BP2), mRNA. 350 Pro-rich. cytoplasm ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1) 60 ACTTGCTCCTCTCCCATTGCT 0.507000 38 14 0 0 0.000422831 0 0 ASPG 374569 broad.mit.edu 37 14 104570685 104570685 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr14:104570685G>A uc001yop.2 + 7 883 c.798G>A c.(796-798)gaG>gaA p.E266E ASPG_uc001yoo.2_Silent_p.E294E|ASPG_uc001yoq.2_Silent_p.E266E|ASPG_uc001yor.2_Silent_p.E266E NM_001080464 NP_001073933 Q86U10 LPP60_HUMAN Homo sapiens asparaginase homolog (S. cerevisiae) (ASPG), mRNA. 266 Asparaginase. lipid catabolic process 1-alkyl-2-acetylglycerophosphocholine esterase activity|asparaginase activity|lysophospholipase activity endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1) 11 TGGTCATGGAGACCTTCGGTT 0.672000 14 26 0 0 0.00106085 0 0 NTSR2 23620 broad.mit.edu 37 2 11802346 11802346 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:11802346G>A uc002rbq.4 - 1 719 c.645C>T c.(643-645)ttC>ttT p.F215F NM_012344 NP_036476 O95665 NTR2_HUMAN Homo sapiens neurotensin receptor 2 (NTSR2), mRNA. 215 sensory perception integral to plasma membrane breast(1)|large_intestine(7)|lung(7)|prostate(1)|urinary_tract(1) 17 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.129)|OV - Ovarian serous cystadenocarcinoma(76;0.24) Levocabastine(DB01106) AGGGGAGCACGAAGGACACCA 0.642000 51 79 0 0 0.00361006 0 0 F13A1 2162 broad.mit.edu 37 6 6266913 6266913 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr6:6266913G>A uc003mwv.3 - 3 572 c.449C>T c.(448-450)tCc>tTc p.S150F F13A1_uc011dib.2_Missense_Mutation_p.S87F NM_000129 NP_000120 P00488 F13A_HUMAN Homo sapiens coagulation factor XIII, A1 polypeptide (F13A1), mRNA. 150 peptide cross-linking|platelet activation|platelet degranulation extracellular region|platelet alpha granule lumen acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 62 Ovarian(93;0.0816) all_hematologic(90;0.152) L-Glutamine(DB00130) ACATTTGGGGGAAGACTGGAT 0.498000 57 13 0 0 0.00136819 0 0 CDCA7L 55536 broad.mit.edu 37 7 21942717 21942717 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr7:21942717G>A uc010kuk.3 - 8 1333 c.1213C>T c.(1213-1215)Ccc>Tcc p.P405S CDCA7L_uc003sve.4_Missense_Mutation_p.P371S|CDCA7L_uc010kul.3_Missense_Mutation_p.P359S|CDCA7L_uc003svf.4_Missense_Mutation_p.P404S NM_018719 NP_001120842 Q96GN5 CDA7L_HUMAN Homo sapiens cell division cycle associated 7-like (CDCA7L), transcript variant 1, mRNA. 405 positive regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus p.P404P(1) 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 CCACGACAGGGGGGACACACC 0.517000 29 12 0 0 0.00244969 0 0 POTEH 23784 broad.mit.edu 37 22 16266988 16266988 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr22:16266988C>T uc010gqp.2 - 8 1513 c.1461G>A c.(1459-1461)agG>agA p.R487R POTEH_uc002zlg.1_Non-coding_Transcript|POTEH_uc002zlh.1_Silent_p.R206R|POTEH_uc002zlj.1_Silent_p.R322R NM_001136213 NP_001129685 Q6S545 POTEH_HUMAN Homo sapiens POTE ankyrin domain family, member H (POTEH), mRNA. 487 p.R487K(1) NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2) 37 TTCTGCTTTTCCTTGGTGGAA 0.433000 216 45 0 0 0.00361006 0 0 CCDC88C 440193 broad.mit.edu 37 14 91755607 91755607 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr14:91755607G>A uc010aty.3 - 24 4437 c.4283C>T c.(4282-4284)tCc>tTc p.S1428F NM_001080414 NP_001073883 Q9P219 DAPLE_HUMAN Homo sapiens coiled-coil domain containing 88C (CCDC88C), mRNA. 1428 Wnt receptor signaling pathway|microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation cytoplasm|insoluble fraction PDZ domain binding|microtubule binding|protein self-association central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1) 24 all_cancers(154;0.0468) GTCCACGGTGGATTTTAAGCG 0.572000 188 48 0 0 0.00361006 0 0 CPNE4 131034 broad.mit.edu 37 3 131404763 131404763 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr3:131404763G>A uc011blq.2 - 5 711 c.601C>T c.(601-603)Cgt>Tgt p.R201C CPNE4_uc003eok.3_Missense_Mutation_p.R183C|CPNE4_uc003eol.3_Missense_Mutation_p.R201C|CPNE4_uc003eom.3_Missense_Mutation_p.R183C NM_130808 NP_570720 Q96A23 CPNE4_HUMAN Homo sapiens copine IV (CPNE4), mRNA. 183 C2 2. 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 TCATTCATACGAAAAATTTCC 0.383000 28 11 0 0 0.00136819 0 0 PABPC3 5042 broad.mit.edu 37 13 25670872 25670872 + Missense_Mutation SNP G A A rs139042913 by1000genomes TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr13:25670872G>A uc001upy.3 + 0 597 c.536G>A c.(535-537)cGa>cAa p.R179Q NM_030979 NP_112241 Q9H361 PABP3_HUMAN Homo sapiens poly(A) binding protein, cytoplasmic 3 (PABPC3), mRNA. 179 mRNA metabolic process cytoplasm nucleotide binding|poly(A) RNA binding breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3) 47 Lung SC(185;0.0225)|Breast(139;0.0602) all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241) CGTAAAGAACGAGAAGCTGAA 0.413000 36 8 0 0 0.000274275 0 0 FLT3 2322 broad.mit.edu 37 13 28589333 28589333 + Missense_Mutation SNP C A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr13:28589333C>A uc001urw.3 - 21 2796 c.2714G>T c.(2713-2715)gGa>gTa p.G905V FLT3_uc010aao.3_Non-coding_Transcript|FLT3_uc010tdn.2_Missense_Mutation_p.G864V NM_004119 NP_004110 P36888 FLT3_HUMAN Homo sapiens fms-related tyrosine kinase 3 (FLT3), mRNA. 905 Protein kinase. positive regulation of cell proliferation integral to plasma membrane ATP binding|vascular endothelial growth factor receptor activity p.G885fs*4(1) NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 12390 Acute lymphoblastic leukemia(6;0.04) Lung SC(185;0.0156)|Ovarian(182;0.0392) Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105) OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212) Sorafenib(DB00398)|Sunitinib(DB01268) CATTTTAAATCCATTTTGAAT 0.373000 """Mis, O""" """AML, ALL""" 4 7 8.12818e-05 0.000234961 0.00198382 1 0 ZDBF2 57683 broad.mit.edu 37 2 207171067 207171067 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:207171067G>A uc002vbp.2 + 4 2065 c.1815G>A c.(1813-1815)ctG>ctA p.L605L NM_020923 NP_065974 Q9HCK1 ZDBF2_HUMAN Homo sapiens zinc finger, DBF-type containing 2 (ZDBF2), mRNA. 605 nucleic acid binding|zinc ion binding endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 95 GAAGAAACCTGAAAGGTAGAC 0.398000 31 26 0 0 0.000720815 0 0 MRPL21 219927 broad.mit.edu 37 11 68658812 68658812 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr11:68658812G>A uc001ooi.3 - 6 630 c.605C>T c.(604-606)cCg>cTg p.P202L MRPL21_uc001ooh.3_Missense_Mutation_p.P117L NM_181514 NP_852616 Q7Z2W9 RM21_HUMAN Homo sapiens mitochondrial ribosomal protein L21 (MRPL21), nuclear gene encoding mitochondrial protein, transcript variant 4, mRNA. 202 translation mitochondrion|ribosome RNA binding|structural constituent of ribosome large_intestine(1)|lung(6)|prostate(1) 8 STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713) CAACAAACACGGAGCAATCTC 0.463000 149 65 0 0 0.00361006 0 0 TMEM18 129787 broad.mit.edu 37 2 669593 669593 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:669593C>T uc002qwl.3 - 4 504 c.410G>A c.(409-411)aGg>aAg p.R137K TMEM18_uc002qwk.3_Non-coding_Transcript NM_152834 NP_690047 Q96B42 TMM18_HUMAN Homo sapiens transmembrane protein 18 (TMEM18), mRNA. 137 cell migration integral to membrane|nuclear membrane endometrium(1)|large_intestine(1)|lung(7)|ovary(1) 10 all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627) all_cancers(51;5.27e-05)|all_epithelial(98;2.11e-06)|Ovarian(717;0.0253) all cancers(51;1.95e-21)|Epithelial(75;9.47e-21)|OV - Ovarian serous cystadenocarcinoma(76;8.15e-18)|GBM - Glioblastoma multiforme(21;0.0285) GTCttctttccttctcctttt 0.498000 8 29 0 0 0.000878237 0 0 SYCP1 6847 broad.mit.edu 37 1 115523998 115523998 + Nonsense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:115523998G>A uc001efr.3 + 28 2633 c.2424G>A c.(2422-2424)tgG>tgA p.W808* SYCP1_uc010owt.2_Non-coding_Transcript|SYCP1_uc001efq.3_Nonsense_Mutation_p.W808*|SYCP1_uc009wgw.3_Nonsense_Mutation_p.W783* NM_003176 NP_003167 Q15431 SYCP1_HUMAN Homo sapiens synaptonemal complex protein 1 (SYCP1), mRNA. 808 cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly DNA binding RGS22/SYCP1(2) NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 48 Lung SC(450;0.211) all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) AAATTTATTGGAAATTGGATT 0.303000 50 75 0 0 0.00361006 0 0 HERC2P9 440248 broad.mit.edu 37 15 28903876 28903876 + RNA SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr15:28903876C>T uc010azc.3 + 4 c.808C>T HERC2P9_uc010uao.1_Non-coding_Transcript Homo sapiens hect domain and RLD 2 pseudogene 9 (HERC2P9), non-coding RNA. GATCCTGTCTCAGCCAGCTGT 0.488000 73 51 0 0 0.00361006 0 0 MTHFD1 4522 broad.mit.edu 37 14 64898303 64898303 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr14:64898303C>T uc001xhb.3 + 13 1752 c.1365C>T c.(1363-1365)ctC>ctT p.L455L MTHFD1_uc010aqe.2_Silent_p.L491L|MTHFD1_uc010aqf.3_Silent_p.L511L NM_005956 NP_005947 P11586 C1TC_HUMAN Homo sapiens methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase (MTHFD1), mRNA. 455 Formyltetrahydrofolate synthetase. folic acid metabolic process|folic acid-containing compound biosynthetic process|histidine biosynthetic process|methionine biosynthetic process|one-carbon metabolic process|purine nucleotide biosynthetic process cytosol|mitochondrion ATP binding|formate-tetrahydrofolate ligase activity|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase|methylenetetrahydrofolate dehydrogenase (NADP+) activity|protein binding endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2) 30 OV - Ovarian serous cystadenocarcinoma(108;8.7e-12)|all cancers(60;3.29e-11)|BRCA - Breast invasive adenocarcinoma(234;0.0488) NADH(DB00157)|Tetrahydrofolic acid(DB00116) CTAATAACCTCGTTGCTGCGG 0.468000 22 32 0 0 0.000814825 0 0 C15orf55 256646 broad.mit.edu 37 15 34647955 34647955 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr15:34647955G>A uc010ucc.2 + 7 2128 c.1746G>A c.(1744-1746)ggG>ggA p.G582G C15orf55_uc010ucd.2_Silent_p.G572G|C15orf55_uc001zif.3_Silent_p.G554G NM_175741 NP_786883 Q86Y26 NUT_HUMAN Homo sapiens chromosome 15 open reading frame 55 (C15orf55), mRNA. 554 cytoplasm|nucleus BRD4_ENST00000263377/C15orf55(24)|BRD3/C15orf55(3) large_intestine(2)|ovary(3)|skin(2) 7 all_lung(180;2.78e-08) all cancers(64;4.53e-18)|GBM - Glioblastoma multiforme(113;8.29e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0249) ACAGGGATGGGAACACTCTGC 0.592000 T """BRD3, BRD4""" lethal midline carcinoma 53 38 0 0 0.00128727 0 0 ARRB1 408 broad.mit.edu 37 11 74993017 74993017 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr11:74993017C>T uc001owe.2 - 5 627 c.403G>A c.(403-405)Gac>Aac p.D135N ARRB1_uc001owf.2_Missense_Mutation_p.D135N NM_004041 NP_004032 P49407 ARRB1_HUMAN Homo sapiens arrestin, beta 1 (ARRB1), transcript variant 1, mRNA. 135 Interaction with SRC (By similarity). G-protein coupled receptor internalization|histone H4 acetylation|negative regulation of NF-kappaB transcription factor activity|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of protein ubiquitination|platelet activation|positive regulation of ERK1 and ERK2 cascade|positive regulation of Rho protein signal transduction|positive regulation of histone acetylation|positive regulation of transcription from RNA polymerase II promoter|post-Golgi vesicle-mediated transport|proteasomal ubiquitin-dependent protein catabolic process|protein transport|protein ubiquitination|signal transduction|stress fiber assembly|transcription from RNA polymerase II promoter Golgi membrane|chromatin|coated pit|cytoplasmic vesicle membrane|cytosol|lysosomal membrane|membrane fraction|nucleus|plasma membrane|pseudopodium|soluble fraction GTPase activator activity|angiotensin receptor binding|enzyme inhibitor activity|insulin-like growth factor receptor binding|transcription factor binding|transcription regulatory region DNA binding|ubiquitin protein ligase binding breast(4)|large_intestine(2)|lung(4)|prostate(1) 11 TTCCCCGTGTCTTCGGGCCCC 0.592000 28 13 0 0 0.000422831 0 0 RIPPLY1 92129 broad.mit.edu 37 X 106144060 106144060 + Missense_Mutation SNP C G G TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chrX:106144060C>G uc004emr.2 - 3 419 c.375G>C c.(373-375)caG>caC p.Q125H MORC4_uc004emp.4_Intron|CLDN2_uc004emq.1_Intron|RIPPLY1_uc004ems.2_Missense_Mutation_p.Q78H NM_138382 NP_612391 Q0D2K3 RIPP1_HUMAN Homo sapiens ripply1 homolog (zebrafish) (RIPPLY1), transcript variant 1, mRNA. 125 Ripply homology domain. negative regulation of transcription, DNA-dependent|somite rostral/caudal axis specification|somite specification|transcription, DNA-dependent nucleus lung(1)|urinary_tract(1) 2 TGATGGTTGCCTGGACAGGAA 0.493000 2 14 0 0 0.000422831 0 0 WBSCR22 114049 broad.mit.edu 37 7 73108352 73108353 + Missense_Mutation DNP CC TT TT TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr7:73108352_73108353CC>TT uc003tyu.3 + 9 731_732 c.673_674CC>TT c.(673-675)ccc>TTc p.P225F WBSCR22_uc010lbi.1_Non-coding_Transcript|WBSCR22_uc003tyv.3_Missense_Mutation_p.P187F|WBSCR22_uc003tyt.3_Missense_Mutation_p.P225F|WBSCR22_uc022afv.1_Non-coding_Transcript|WBSCR22_uc003tyw.1_Missense_Mutation_p.P88F NM_001202560 NP_001189489 O43709 WBS22_HUMAN Homo sapiens Williams Beuren syndrome chromosome region 22 (WBSCR22), transcript variant 1, mRNA. 225 nucleus methyltransferase activity autonomic_ganglia(1)|large_intestine(2)|lung(9)|prostate(1) 13 Lung NSC(55;0.0908)|all_lung(88;0.198) TGAAGTTGAACCCAGGGAGTCT 0.545000 94 25 0 0 6.4e-05 0 0 OR14J1 442191 broad.mit.edu 37 6 29275415 29275415 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr6:29275415G>A uc011dln.2 + 0 949 c.949G>A c.(949-951)Gcc>Acc p.A317T NM_030946 NP_112208 Q9UGF5 O14J1_HUMAN Homo sapiens olfactory receptor, family 14, subfamily J, member 1 (OR14J1), mRNA. 317 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(2) 17 gtgcttaaaagccatgtttaa 0.388000 38 25 0 0 0.000878237 0 0 IL36B 27177 broad.mit.edu 37 2 113786584 113786584 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:113786584C>T uc002tiq.1 - 3 297 c.193G>A c.(193-195)Gga>Aga p.G65R IL36B_uc002tir.1_Missense_Mutation_p.G65R NM_014438 NP_055253 Q9NZH7 IL36B_HUMAN Homo sapiens interleukin 36, beta (IL36B), transcript variant 1, mRNA. 65 immune response extracellular space cytokine activity|interleukin-1 receptor binding kidney(1)|ovary(1)|pancreas(1) 3 CCCTTGATTCCCAGGTAAACC 0.418000 50 45 0 0 0.00285205 0 0 POM121L12 285877 broad.mit.edu 37 7 53104243 53104243 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr7:53104243C>T uc003tpz.3 + 0 895 c.879C>T c.(877-879)ccC>ccT p.P293P NM_182595 NP_872401 Q8N7R1 P1L12_HUMAN Homo sapiens POM121 membrane glycoprotein-like 12 (POM121L12), mRNA. 293 p.P293H(1) endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 61 CTGCTGGCCCCTTTGGCTCCT 0.607000 31 23 0 0 0.000720815 0 0 DSCR4 10281 broad.mit.edu 37 21 39427000 39427000 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr21:39427000C>T uc002ywp.3 - 2 411 c.306G>A c.(304-306)aaG>aaA p.K102K NM_005867 NP_005858 P56555 DSCR4_HUMAN Homo sapiens Down syndrome critical region gene 4 (DSCR4), mRNA. 102 large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1) 6 CATCTGATTTCTTGTGGAGCC 0.473000 56 50 0 0 0.00361006 0 0 EMX1 2016 broad.mit.edu 37 2 73160970 73160970 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:73160970G>A uc002sin.1 + 2 1138 c.760G>A c.(760-762)Gag>Aag p.E254K NM_004097 NP_004088 Q04741 EMX1_HUMAN Homo sapiens empty spiracles homeobox 1 (EMX1), mRNA. 221 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity cervix(1)|large_intestine(2)|lung(3) 6 GAAGCTGGAGGAGGAAGGGCC 0.597000 38 25 0 0 0.00127121 0 0 CLEC6A 93978 broad.mit.edu 37 12 8610512 8610512 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr12:8610512C>T uc001qum.1 + 1 167 c.50C>T c.(49-51)tCc>tTc p.S17F NM_001007033 NP_001007034 Q6EIG7 CLC6A_HUMAN Homo sapiens C-type lectin domain family 6, member A (CLEC6A), mRNA. 17 defense response to fungus|innate immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of cytokine secretion integral to membrane sugar binding breast(1)|large_intestine(2)|lung(7) 10 Lung SC(5;0.184) GGCTGGTTGTCCCTGAGACTC 0.488000 18 37 0 0 0.000953801 0 0 AP3B2 8120 broad.mit.edu 37 15 83334244 83334244 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr15:83334244C>T uc010uoi.2 - 15 2113 c.1936G>A c.(1936-1938)Gag>Aag p.E646K AP3B2_uc010uoh.2_Missense_Mutation_p.E646K|AP3B2_uc010uoj.2_Missense_Mutation_p.E614K|AP3B2_uc010bmp.3_5'Flank|AP3B2_uc010uog.2_Missense_Mutation_p.E282K|DQ601936_uc002biy.1_5'Flank NM_004644 NP_004635 Q13367 AP3B2_HUMAN Homo sapiens adaptor-related protein complex 3, beta 2 subunit (AP3B2), mRNA. 646 Glu/Ser-rich. endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport COPI-coated vesicle|clathrin coated vesicle membrane|membrane coat binding|protein transporter activity breast(4)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(2) 41 BRCA - Breast invasive adenocarcinoma(143;0.229) GGGGCTTCCTCCGGCCAGTCT 0.592000 83 35 0 0 0.00148497 0 0 SLC22A7 10864 broad.mit.edu 37 6 43267216 43267216 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr6:43267216G>A uc021yzt.1 + 2 587 c.488G>A c.(487-489)gGa>gAa p.G163E SLC22A7_uc010jyl.1_Missense_Mutation_p.G161E|SLC22A7_uc003ous.3_Missense_Mutation_p.G161E|SLC22A7_uc003out.3_Missense_Mutation_p.G161E NM_153320 NP_696961 Q9Y694 S22A7_HUMAN Homo sapiens solute carrier family 22 (organic anion transporter), member 7 (SLC22A7), transcript variant 2, mRNA. 163 basolateral plasma membrane|integral to plasma membrane|membrane fraction anion:anion antiporter activity|sodium-independent organic anion transmembrane transporter activity NS(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(3) 26 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305) GTGGCCTTTGGATATCTGTCC 0.567000 47 50 0 0 0.00361006 0 0 ARID5A 10865 broad.mit.edu 37 2 97217808 97217808 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:97217808C>T uc002swe.3 + 6 1643 c.1543C>T c.(1543-1545)Ccg>Tcg p.P515S ARID5A_uc010yuq.2_Missense_Mutation_p.P463S|ARID5A_uc002swf.3_Missense_Mutation_p.P351S|ARID5A_uc002swg.3_Missense_Mutation_p.P463S NM_212481 NP_997646 Q03989 ARI5A_HUMAN Homo sapiens AT rich interactive domain 5A (MRF1-like) (ARID5A), mRNA. 515 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus DNA binding endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|skin(1)|urinary_tract(2) 14 CACTGGCACCCCGGGCCCCTT 0.721000 19 29 0 0 0.00127121 0 0 CGNL1 84952 broad.mit.edu 37 15 57730875 57730875 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr15:57730875C>T uc010bfw.3 + 2 871 c.678C>T c.(676-678)gaC>gaT p.D226D CGNL1_uc002aeg.3_Silent_p.D226D NM_001252335 NP_001239264 Q0VF96 CGNL1_HUMAN Homo sapiens cingulin-like 1 (CGNL1), transcript variant 1, mRNA. 226 Head. myosin complex|tight junction motor activity autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1) 60 all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186) TCATAGAGGACCCCAAAAAGC 0.562000 88 36 0 0 0.00375469 0 0 C7orf42 55069 broad.mit.edu 37 7 66410104 66410104 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr7:66410104C>T uc003tvk.3 + 2 565 c.301C>T c.(301-303)Ccc>Tcc p.P101S C7orf42_uc010lah.3_Non-coding_Transcript NM_017994 NP_060464 Q9NWD8 CG042_HUMAN Homo sapiens chromosome 7 open reading frame 42 (C7orf42), mRNA. 101 integral to membrane p.S100>?(1) breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1) 17 CACCCAGTCCCCCCAGGCCCT 0.572000 49 34 0 0 0.00327116 0 0 DNAH17 8632 broad.mit.edu 37 17 76455266 76455266 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr17:76455266G>A uc010dhp.2 - 60 9803 c.9678C>T c.(9676-9678)ttC>ttT p.F3226F DNAH17_uc002jvs.3_Non-coding_Transcript NM_173628 NP_775899 Homo sapiens dynein, axonemal, heavy chain 17 (DNAH17), mRNA. NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 116 BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656) ACTCGGGGTCGAACGTCGGGT 0.647000 103 161 0 0 0.00361006 0 0 AQP12B 653437 broad.mit.edu 37 2 241621907 241621907 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:241621907C>T uc010fzj.3 - 0 411 c.348G>A c.(346-348)gcG>gcA p.A116A AQP12B_uc002vzt.3_Non-coding_Transcript NM_001102467 NP_001095937 A6NM10 AQ12B_HUMAN Homo sapiens aquaporin 12B (AQP12B), mRNA. 104 integral to membrane transporter activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|lung(8)|ovary(1) 13 all_epithelial(40;1.71e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;2.2e-31)|all cancers(36;1.08e-28)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.52e-06)|Lung(119;0.00163)|LUSC - Lung squamous cell carcinoma(224;0.008)|Colorectal(34;0.0124)|COAD - Colon adenocarcinoma(134;0.0757) GCCCCTGTGCCGCCAGCTTCA 0.692000 7 19 0 0 0.00121646 0 0 KIAA1407 57577 broad.mit.edu 37 3 113753875 113753875 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr3:113753875C>T uc003eax.3 - 5 862 c.715G>A c.(715-717)Gct>Act p.A239T KIAA1407_uc011bin.1_Non-coding_Transcript|KIAA1407_uc011bio.1_Missense_Mutation_p.A217T|KIAA1407_uc011bip.1_Missense_Mutation_p.A226T NM_020817 NP_065868 Q8NCU4 K1407_HUMAN Homo sapiens KIAA1407 (KIAA1407), mRNA. 239 endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1) 40 GCCTCCAGAGCCTTCCTTTTC 0.483000 77 65 0 0 0.00361006 0 0 RNF17 56163 broad.mit.edu 37 13 25362263 25362263 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr13:25362263C>T uc001upr.3 + 6 790 c.749C>T c.(748-750)tCg>tTg p.S250L RNF17_uc010tdd.1_Missense_Mutation_p.S109L|RNF17_uc010tde.2_Missense_Mutation_p.S250L|RNF17_uc010aab.3_Non-coding_Transcript|RNF17_uc001ups.3_Missense_Mutation_p.S189L|RNF17_uc001upq.1_Missense_Mutation_p.S250L NM_031277 NP_112567 Q9BXT8 RNF17_HUMAN Homo sapiens ring finger protein 17 (RNF17), transcript variant 1, mRNA. 250 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) TTACAATTATCGCCTTCTCTA 0.299000 37 17 0 0 0.00121646 0 0 AES 166 broad.mit.edu 37 19 3054025 3054025 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:3054025G>A uc002lxb.1 - 6 626 c.587C>T c.(586-588)gCc>gTc p.A196V AES_uc002lwx.1_3'UTR|AES_uc002lwy.1_Missense_Mutation_p.A129V|AES_uc002lwz.1_Missense_Mutation_p.A128V NM_198969 NP_945320 Q08117 AES_HUMAN Homo sapiens amino-terminal enhancer of split (AES), transcript variant 1, mRNA. 129 CCN domain. Wnt receptor signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of response to cytokine stimulus|negative regulation of transcription from RNA polymerase II promoter|organ morphogenesis|response to interleukin-1|transcription, DNA-dependent nucleus protein binding|transcription corepressor activity p.A196D(2)|p.A196T(1) lung(8) 8 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CAGCTGGTGGGCTTGGAGCTG 0.716000 1 7 0 0 0.00198382 0 0 MGAM 8972 broad.mit.edu 37 7 141752244 141752244 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr7:141752244G>A uc003vwy.3 + 24 3010 c.2956G>A c.(2956-2958)Gag>Aag p.E986K NM_004668 NP_004659 O43451 MGA_HUMAN Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA. 986 P-type 2. polysaccharide digestion|starch catabolic process apical plasma membrane|integral to membrane carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2) 13 Melanoma(164;0.0272) Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878) CTGTATCTGGGAGGTAACCAT 0.433000 41 7 0 0 0.000442599 0 0 C8orf34 116328 broad.mit.edu 37 8 69552622 69552622 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr8:69552622G>A uc010lyz.3 + 7 1408 c.1117G>A c.(1117-1119)Gat>Aat p.D373N C8orf34_uc003xyb.3_Missense_Mutation_p.D262N NM_052958 NP_443190 Q49A92 CH034_HUMAN Homo sapiens chromosome 8 open reading frame 34 (C8orf34), transcript variant 1, mRNA. 287 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) GGATCTTAATGATTTAAGAAT 0.398000 25 22 0 0 0.00332997 0 0 TTF1 7270 broad.mit.edu 37 9 135266135 135266135 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr9:135266135G>A uc004cbl.3 - 6 2140 c.2071C>T c.(2071-2073)Ccc>Tcc p.P691S TTF1_uc004cbm.3_Missense_Mutation_p.P176S|TTF1_uc011mcp.2_Non-coding_Transcript NM_007344 NP_031370 Q15361 TTF1_HUMAN Homo sapiens transcription termination factor, RNA polymerase I (TTF1), transcript variant 1, mRNA. 691 Myb-like 2. negative regulation of DNA replication|regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription nucleolus|nucleoplasm DNA binding endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05) AACTCCTGGGGAGACATCTTC 0.408000 19 97 0 0 0.00361006 0 0 MORC1 27136 broad.mit.edu 37 3 108698393 108698393 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr3:108698393C>T uc003dxl.3 - 23 2533 c.2446G>A c.(2446-2448)Gaa>Aaa p.E816K MORC1_uc011bhn.2_Missense_Mutation_p.E795K NM_014429 NP_055244 Q86VD1 MORC1_HUMAN Homo sapiens MORC family CW-type zinc finger 1 (MORC1), mRNA. 816 cell differentiation|multicellular organismal development|spermatogenesis nucleus ATP binding|zinc ion binding breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3) 105 CTCACTGTTTCCTTGACAGGT 0.398000 70 67 0 0 0.00361006 0 0 CEP120 153241 broad.mit.edu 37 5 122722351 122722351 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr5:122722351G>A uc003ktk.3 - 10 1557 c.1441C>T c.(1441-1443)Cca>Tca p.P481S CEP120_uc010jcz.2_Missense_Mutation_p.P455S|CEP120_uc011cwq.2_Missense_Mutation_p.P290S NM_153223 NP_001159698 Q8N960 CE120_HUMAN Homo sapiens centrosomal protein 120kDa (CEP120), transcript variant 1, mRNA. 481 centrosome breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 29 CCAAAGAATGGATATGAGTAC 0.303000 25 14 0 0 0.00185496 0 0 KRTAP5-4 387267 broad.mit.edu 37 11 1642816 1642816 + Missense_Mutation SNP A C C TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr11:1642816A>C uc009ycy.1 - 2 490 c.403T>G c.(403-405)Tgt>Ggt p.C135G MOB2_uc001ltq.2_Intron NM_001012709 NP_001012727 Q6L8H1 KRA54_HUMAN Homo sapiens keratin associated protein 5-4 (KRTAP5-4), mRNA. 230 9 X 4 AA repeats of C-C-X-P. keratin filament NS(1)|endometrium(9)|kidney(2)|lung(2)|pancreas(1)|prostate(3)|skin(2) 20 all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082) GATGACCCACAACCTGAGGAG 0.612000 56 36 0 0 0.00111076 0 0 LMAN1L 79748 broad.mit.edu 37 15 75114199 75114199 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr15:75114199C>T uc002ayt.1 + 9 1091 c.1089C>T c.(1087-1089)tcC>tcT p.S363S LMAN1L_uc010bke.1_Silent_p.S351S NM_021819 NP_068591 Q9HAT1 LMA1L_HUMAN Homo sapiens lectin, mannose-binding, 1 like (LMAN1L), mRNA. 363 ER-Golgi intermediate compartment membrane|integral to membrane sugar binding NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 AGATTCCATCCACCCCAGGGA 0.612000 39 45 0 0 0.00361006 0 0 FGD6 55785 broad.mit.edu 37 12 95603750 95603750 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr12:95603750G>A uc001tdp.4 - 1 1534 c.1310C>T c.(1309-1311)tCg>tTg p.S437L FGD6_uc009zsx.3_Intron NM_018351 NP_060821 Q6ZV73 FGD6_HUMAN Homo sapiens FYVE, RhoGEF and PH domain containing 6 (FGD6), mRNA. 437 actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape Golgi apparatus|cytoskeleton|lamellipodium|ruffle Rho guanyl-nucleotide exchange factor activity|metal ion binding|small GTPase binding breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 56 CACAGCAAGCGACATACTAGA 0.393000 76 29 0 0 0.000878237 0 0 SCN5A 6331 broad.mit.edu 37 3 38592273 38592273 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr3:38592273C>T uc021wvo.1 - 26 5642 c.5590G>A c.(5590-5592)Gag>Aag p.E1864K SCN5A_uc021wvk.1_Missense_Mutation_p.E1831K|SCN5A_uc021wvl.1_Missense_Mutation_p.E1810K|SCN5A_uc021wvm.1_Missense_Mutation_p.E1846K|SCN5A_uc021wvn.1_Missense_Mutation_p.E1863K|SCN5A_uc021wvp.1_Missense_Mutation_p.E1864K|SCN5A_uc021wvq.1_3'UTR|SCN5A_uc021wvr.1_3'UTR|SCN5A_uc021wvs.1_3'UTR|SCN5A_uc021wvt.1_3'UTR|SCN5A_uc021wvu.1_3'UTR|SCN5A_uc021wvv.1_3'UTR|SCN5A_uc021wvj.1_Missense_Mutation_p.E1676K|SCN5A_uc021wvi.1_Missense_Mutation_p.E1730K NM_198056 NP_932173 Q14524 SCN5A_HUMAN Homo sapiens sodium channel, voltage-gated, type V, alpha subunit (SCN5A), transcript variant 1, mRNA. 1864 blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction sarcolemma|voltage-gated sodium channel complex protein binding|voltage-gated sodium channel activity NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4) 107 Medulloblastoma(35;0.163) KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1) Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661) TCCCCAGACTCCCCCAGGACC 0.557000 80 32 0 0 0.00327116 0 0 SLURP1 57152 broad.mit.edu 37 8 143822687 143822687 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr8:143822687G>A uc003ywy.3 - 2 212 c.186C>T c.(184-186)ccC>ccT p.P62P NM_020427 NP_065160 P55000 SLUR1_HUMAN Homo sapiens secreted LY6/PLAUR domain containing 1 (SLURP1), mRNA. 62 UPAR/Ly6. cell activation|cell adhesion extracellular space cytokine activity breast(1)|lung(7)|ovary(1) 9 all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) TCTGGTTGAAGGGGTACTCTG 0.682000 16 8 0 0 0.00307968 0 0 LRRTM4 80059 broad.mit.edu 37 2 77745953 77745953 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:77745953C>T uc002snr.3 - 2 1457 c.1042G>A c.(1042-1044)Gaa>Aaa p.E348K LRRTM4_uc002snq.3_Missense_Mutation_p.E348K|LRRTM4_uc002sns.2_Missense_Mutation_p.E348K|LRRTM4_uc002snt.2_Missense_Mutation_p.E349K NM_001134745 NP_001128217 Q86VH4 LRRT4_HUMAN Homo sapiens leucine rich repeat transmembrane neuronal 4 (LRRTM4), transcript variant 1, mRNA. 348 LRRCT. integral to membrane autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1) 64 Colorectal(11;0.059) CTAACCTTTTCACCCTGGATG 0.433000 14 7 0 0 0.00198382 0 0 PMEPA1 56937 broad.mit.edu 37 20 56234731 56234731 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr20:56234731G>A uc002xyq.3 - 1 525 c.132C>T c.(130-132)atC>atT p.I44I PMEPA1_uc002xyr.3_5'UTR|PMEPA1_uc002xys.3_Silent_p.I9I|PMEPA1_uc002xyt.3_5'UTR NM_020182 NP_954640 Q969W9 PMEPA_HUMAN Homo sapiens prostate transmembrane protein, androgen induced 1 (PMEPA1), transcript variant 1, mRNA. 44 androgen receptor signaling pathway integral to membrane|plasma membrane WW domain binding breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1) 16 CGATGATGATGATCTGAACAA 0.572000 8 5 0 0 0.000602214 0 0 PRDM9 56979 broad.mit.edu 37 5 23526472 23526472 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr5:23526472C>T uc003jgo.3 + 10 1457 c.1275C>T c.(1273-1275)ctC>ctT p.L425L NM_020227 NP_064612 Q9NQV7 PRDM9_HUMAN Homo sapiens PR domain containing 9 (PRDM9), mRNA. 425 meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleoplasm histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding 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 GAAAACTCCTCCAACCAGAGA 0.463000 HNSCC(3;0.000094) 7 77 0 0 0.00361006 0 0 TEX15 56154 broad.mit.edu 37 8 30705720 30705720 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr8:30705720G>A uc003xil.3 - 0 814 c.814C>T c.(814-816)Cca>Tca p.P272S NM_031271 NP_112561 Q9BXT5 TEX15_HUMAN Homo sapiens testis expressed 15 (TEX15), mRNA. 272 NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1) 138 KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111) TTATCTATTGGACTGATTTTT 0.313000 63 17 0 0 0.00121646 0 0 LRRC43 254050 broad.mit.edu 37 12 122669284 122669284 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr12:122669284C>T uc009zxm.3 + 1 394 c.369C>T c.(367-369)ttC>ttT p.F123F LRRC43_uc001ubw.4_5'UTR|LRRC43_uc009zxl.1_Non-coding_Transcript NM_001098519 NP_689972 Q8N309 LRC43_HUMAN Homo sapiens leucine rich repeat containing 43 (LRRC43), transcript variant 1, mRNA. 123 NS(1)|endometrium(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(2) 19 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225) CAGACACCTTCTTCTACTCCT 0.572000 12 6 0 0 0.00116845 0 0 NLRC3 197358 broad.mit.edu 37 16 3613900 3613900 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr16:3613900C>T uc010btn.3 - 4 1449 c.1038G>A c.(1036-1038)agG>agA p.R346R NM_178844 NP_849172 Q7RTR2 NLRC3_HUMAN Homo sapiens NLR family, CARD domain containing 3 (NLRC3), mRNA. 346 NACHT. I-kappaB kinase/NF-kappaB cascade|T cell activation|negative regulation of NF-kappaB transcription factor activity cytoplasm ATP binding breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 GGGGCCCCGTCCTGCTGCGCC 0.662000 13 33 0 0 0.000814825 0 0 DOCK7 85440 broad.mit.edu 37 1 63018492 63018492 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:63018492G>A uc001daq.3 - 21 2711 c.2677C>T c.(2677-2679)Cgt>Tgt p.R893C DOCK7_uc001dan.3_Missense_Mutation_p.R785C|DOCK7_uc001dao.3_Missense_Mutation_p.R785C|DOCK7_uc001dap.3_Missense_Mutation_p.R893C|DOCK7_uc001dam.3_Missense_Mutation_p.R73C NM_033407 NP_212132 Q96N67 DOCK7_HUMAN Homo sapiens dedicator of cytokinesis 7 (DOCK7), mRNA. 893 activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation axon|basal part of cell|growth cone GTP binding|Rac GTPase binding|guanyl-nucleotide exchange factor activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 92 CTTCGAGAACGATTTAAATTA 0.443000 60 18 0 0 0.000566183 0 0 DLGAP3 58512 broad.mit.edu 37 1 35370262 35370262 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:35370262C>T uc001byc.3 - 0 723 c.723G>A c.(721-723)agG>agA p.R241R NM_001080418 NP_001073887 O95886 DLGP3_HUMAN Homo sapiens discs, large (Drosophila) homolog-associated protein 3 (DLGAP3), mRNA. 241 cell-cell signaling cell junction|postsynaptic density|postsynaptic membrane central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1) 46 Myeloproliferative disorder(586;0.0393) TGCTCTTGCTCCTCTTGCCGT 0.647000 34 79 0 0 0.00361006 0 0 PCLO 27445 broad.mit.edu 37 7 82584101 82584101 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr7:82584101C>T uc003uhx.2 - 4 6457 c.6168G>A c.(6166-6168)agG>agA p.R2056R PCLO_uc003uhv.2_Silent_p.R2056R NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA. 1987 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity p.E2055K(1) breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 CTAGTAGTTTCCTTTCTTCTT 0.448000 84 15 0 0 0.00244969 0 0 NLRP9 338321 broad.mit.edu 37 19 56223323 56223323 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:56223323G>A uc002qly.3 - 7 2714 c.2686C>T c.(2686-2688)Ccg>Tcg p.P896S NM_176820 NP_789790 Q7RTR0 NALP9_HUMAN Homo sapiens NLR family, pyrin domain containing 9 (NLRP9), mRNA. 896 cytoplasm ATP binding NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3) 74 Colorectal(82;0.000133)|Ovarian(87;0.133) GBM - Glioblastoma multiforme(193;0.123) CGGGTGATCGGACACGTTTGC 0.547000 15 38 0 0 0.00195071 0 0 ACSBG1 23205 broad.mit.edu 37 15 78475076 78475076 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr15:78475076G>A uc002bdh.3 - 5 921 c.715C>T c.(715-717)Cct>Tct p.P239S ACSBG1_uc010umx.2_5'UTR|ACSBG1_uc010umw.2_Missense_Mutation_p.P235S|ACSBG1_uc010umy.2_Missense_Mutation_p.P132S NM_015162 NP_055977 Q96GR2 ACBG1_HUMAN Homo sapiens acyl-CoA synthetase bubblegum family member 1 (ACSBG1), transcript variant 1, mRNA. 239 long-chain fatty acid metabolic process|myelination|very long-chain fatty acid metabolic process cytoplasmic membrane-bounded vesicle|endoplasmic reticulum|microsome ATP binding|long-chain fatty acid-CoA ligase activity|very long-chain fatty acid-CoA ligase activity endometrium(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 37 TTGTTTGGAGGAGGTTCTTTA 0.517000 61 58 0 0 0.00361006 0 0 HEATR7B2 133558 broad.mit.edu 37 5 41057398 41057398 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr5:41057398C>T uc003jmj.4 - 7 1311 c.821G>A c.(820-822)aGa>aAa p.R274K HEATR7B2_uc003jmi.4_Intron|HEATR7B2_uc021xxt.1_Missense_Mutation_p.R274K NM_173489 NP_775760 Q7Z745 HTRB2_HUMAN Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA. 274 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 AAAGATGGATCTTCTCAAGCT 0.413000 2 6 0 0 0.00198382 0 0 KCNJ3 3760 broad.mit.edu 37 2 155711711 155711711 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:155711711C>T uc002tyv.1 + 2 1587 c.1392C>T c.(1390-1392)agC>agT p.S464S KCNJ3_uc010zce.1_3'UTR NM_002239 NP_002230 P48549 IRK3_HUMAN Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 3 (KCNJ3), mRNA. 464 synaptic transmission voltage-gated potassium channel complex G-protein activated inward rectifier potassium channel activity|protein binding breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 54 Halothane(DB01159) ATCCCATGAGCCAGTCTGTGG 0.448000 30 36 0 0 0.00111076 0 0 ROS1 6098 broad.mit.edu 37 6 117658463 117658463 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr6:117658463C>T uc003pxp.1 - 30 5319 c.5120G>A c.(5119-5121)aGc>aAc p.S1707N ROS1_uc011ebi.1_Non-coding_Transcript|ROS1_uc003pxq.1_Intron NM_002944 NP_002935 P08922 ROS_HUMAN Homo sapiens c-ros oncogene 1 , receptor tyrosine kinase (ROS1), mRNA. 1707 Fibronectin type-III 8. transmembrane receptor protein tyrosine kinase signaling pathway membrane fraction|sodium:potassium-exchanging ATPase complex ATP binding|transmembrane receptor protein tyrosine kinase activity TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7) NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 162 all_cancers(87;0.00846)|all_epithelial(87;0.0242) GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137) AGGACCTTGGCTGCATGAAGT 0.323000 T """GOPC, SDC4, SLC34A2, EZR, LRIG3""" """glioblastoma, NSCLC""" 6 39 0 0 0.00321405 0 0 SRP19 6728 broad.mit.edu 37 5 112198222 112198222 + Missense_Mutation SNP C A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr5:112198222C>A uc003kqc.3 + 1 248 c.59C>A c.(58-60)cCt>cAt p.P20H SRP19_uc021yck.1_Intron|SRP19_uc003kqb.2_Missense_Mutation_p.P20H|SRP19_uc021ycl.1_Missense_Mutation_p.P20H|SRP19_uc011cvu.2_Missense_Mutation_p.P20H NM_003135 NP_003126 P09132 SRP19_HUMAN Homo sapiens signal recognition particle 19kDa (SRP19), transcript variant 1, mRNA. 20 SRP-dependent cotranslational protein targeting to membrane|response to drug cytosol|mitochondrion|nucleolus|signal recognition particle, endoplasmic reticulum targeting 7S RNA binding breast(1)|cervix(1)|large_intestine(1) 3 all_cancers(142;0.00328)|all_epithelial(76;6.39e-05)|Prostate(80;0.00174)|Colorectal(10;0.00372)|Ovarian(225;0.156) Epithelial(69;1.7e-09)|OV - Ovarian serous cystadenocarcinoma(64;1.17e-08)|all cancers(49;3.96e-07)|Colorectal(14;0.0056)|COAD - Colon adenocarcinoma(37;0.0104) TGTATCTATCCTGCTTATTTA 0.473000 13 13 4.3838e-07 1.27157e-06 0.00185496 1 0 MUC16 94025 broad.mit.edu 37 19 9072421 9072421 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:9072421C>T uc002mkp.3 - 2 15229 c.15025G>A c.(15025-15027)Gga>Aga p.G5009R NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 5011 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 TGTGAAAATCCATGAGTCATA 0.488000 68 23 0 0 0.00395357 0 0 PLCH1 23007 broad.mit.edu 37 3 155203476 155203476 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr3:155203476C>T uc021xge.1 - 21 2944 c.2667G>A c.(2665-2667)aaG>aaA p.K889K PLCH1_uc021xgd.1_Silent_p.K889K|PLCH1_uc021xgf.1_Silent_p.K851K NM_001130960 NP_001124432 Q4KWH8 PLCH1_HUMAN Homo sapiens phospholipase C, eta 1 (PLCH1), transcript variant 1, mRNA. 889 lipid catabolic process|phosphatidylinositol-mediated signaling membrane calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4) 107 Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114) TGAACAGTCCCTTCAGACCCT 0.433000 17 19 0 0 0.00188189 0 0 ATP2B2 491 broad.mit.edu 37 3 10452327 10452327 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr3:10452327G>A uc003bvt.3 - 2 811 c.372C>T c.(370-372)taC>taT p.Y124Y ATP2B2_uc003bvv.3_Silent_p.Y124Y|ATP2B2_uc003bvw.3_Silent_p.Y124Y|ATP2B2_uc010hdp.2_Silent_p.Y124Y|ATP2B2_uc010hdo.3_5'UTR NM_001001331 NP_001001331 Q01814 AT2B2_HUMAN Homo sapiens ATPase, Ca++ transporting, plasma membrane 2 (ATP2B2), transcript variant 1, mRNA. 124 ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation cytosol|integral to membrane|plasma membrane ATP binding|PDZ domain binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein C-terminus binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2) 74 CGGGCGGGTGGTAGAAGGACA 0.652000 125 48 0 0 0.00361006 0 0 ACTL7B 10880 broad.mit.edu 37 9 111617744 111617744 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr9:111617744G>A uc004bdi.3 - 0 532 c.467C>T c.(466-468)cCc>cTc p.P156L NM_006686 NP_006677 Q9Y614 ACL7B_HUMAN Homo sapiens actin-like 7B (ACTL7B), mRNA. 156 actin cytoskeleton|cytoplasm structural constituent of cytoskeleton endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 20 GTTGCTGCTGGGGCTGAGCGG 0.612000 3 49 0 0 0.00361006 0 0 MORN1 79906 broad.mit.edu 37 1 2268200 2268200 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:2268200G>A uc001ajb.1 - 10 1147 c.1126C>T c.(1126-1128)Ccg>Tcg p.P376S MORN1_uc009vld.3_Missense_Mutation_p.P352S NM_024848 NP_079124 Q5T089 MORN1_HUMAN Homo sapiens MORN repeat containing 1 (MORN1), mRNA. 376 breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(1)|ovary(2) 9 all_cancers(77;0.000194)|all_epithelial(69;9.96e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634) all_epithelial(116;3.3e-15)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217) Epithelial(90;2.21e-37)|OV - Ovarian serous cystadenocarcinoma(86;5.01e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.00137)|BRCA - Breast invasive adenocarcinoma(365;0.00488)|STAD - Stomach adenocarcinoma(132;0.00665)|KIRC - Kidney renal clear cell carcinoma(229;0.0203)|Lung(427;0.212) TACCCAGGCGGGGGCGGCCCC 0.682000 32 8 0 0 0.000673444 0 0 TLE2 7089 broad.mit.edu 37 19 3009539 3009539 + Splice_Site SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:3009539C>T uc010dth.3 - 13 1439 c.1176_splice c.e13+1 p.V392_splice TLE2_uc010xhb.2_Splice_Site_p.V58_splice|TLE2_uc002lww.3_Splice_Site_p.V391_splice|TLE2_uc010xhc.2_Splice_Site_p.V269_splice|TLE2_uc010dti.3_Splice_Site_p.V405_splice|TLE2_uc010xhd.1_Splice_Site_p.V299_splice NM_003260 NP_003251 Q04725 TLE2_HUMAN Homo sapiens transducin-like enhancer of split 2 (E(sp1) homolog, Drosophila) (TLE2), transcript variant 1, mRNA. 391 Pro/Ser-rich. Wnt receptor signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|organ morphogenesis|transcription, DNA-dependent nucleus protein binding|transcription corepressor activity breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(1) 13 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CAAGGACTCACCACGGGGGAG 0.652000 17 5 0 0 0.00198382 0 0 OR12D3 81797 broad.mit.edu 37 6 29342848 29342848 + Missense_Mutation SNP A C C TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr6:29342848A>C uc003nme.3 - 0 221 c.217T>G c.(217-219)Tca>Gca p.S73A NM_030959 NP_112221 Q9UGF7 O12D3_HUMAN Homo sapiens olfactory receptor, family 12, subfamily D, member 3 (OR12D3), mRNA. 73 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(3) 23 AGTGTCACTGAAGAATAAGAA 0.433000 20 19 0 0 0.00152264 0 0 COL24A1 255631 broad.mit.edu 37 1 86289269 86289269 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:86289269C>T uc001dlj.3 - 44 3814 c.3739G>A c.(3739-3741)Gaa>Aaa p.E1247K COL24A1_uc001dli.3_Missense_Mutation_p.E383K|COL24A1_uc010osf.2_Non-coding_Transcript|COL24A1_uc010osd.2_Missense_Mutation_p.E547K|COL24A1_uc001dlk.3_Non-coding_Transcript|COL24A1_uc010ose.2_Non-coding_Transcript NM_152890 NP_690850 Q17RW2 COOA1_HUMAN Homo sapiens collagen, type XXIV, alpha 1 (COL24A1), mRNA. 1247 Collagen-like 13. cell adhesion collagen extracellular matrix structural constituent NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 101 all cancers(265;0.0627)|Epithelial(280;0.0689) TCACCTGGTTCGCCCTTTAGT 0.313000 76 14 0 0 0.00185496 0 0 GALNT9 50614 broad.mit.edu 37 12 132683748 132683748 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr12:132683748G>A uc001ukc.4 - 8 1584 c.1468C>T c.(1468-1470)Ctc>Ttc p.L490F GALNT9_uc009zyr.3_Missense_Mutation_p.L264F|GALNT9_uc001ukb.3_Missense_Mutation_p.L347F|GALNT9_uc001uka.3_Missense_Mutation_p.L124F NM_001122636 NP_001116108 Q9HCQ5 GALT9_HUMAN Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 9 (GalNAc-T9) (GALNT9), transcript variant A, mRNA. 490 Ricin B-type lectin. protein O-linked glycosylation Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding breast(1)|endometrium(1)|large_intestine(2)|lung(5) 9 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.241) OV - Ovarian serous cystadenocarcinoma(86;7.49e-08)|Epithelial(86;3.55e-07)|all cancers(50;2.09e-05) CAGGGGTAGAGGATCGCCCGG 0.647000 37 7 0 0 0.000673444 0 0 KIAA1462 57608 broad.mit.edu 37 10 30316043 30316043 + Missense_Mutation SNP C A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr10:30316043C>A uc009xle.2 - 2 3171 c.3034G>T c.(3034-3036)Gtg>Ttg p.V1012L KIAA1462_uc001iux.3_Missense_Mutation_p.V1012L|KIAA1462_uc001iuy.3_Intron|KIAA1462_uc001iuz.3_Missense_Mutation_p.V874L NM_020848 NP_065899 Q9P266 K1462_HUMAN Homo sapiens KIAA1462 (KIAA1462), mRNA. 1012 breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 75 CTTGGTTTCACAGAGCTGAAA 0.562000 49 74 9.42754e-34 2.77136e-33 0.00361006 1 0 CDYL2 124359 broad.mit.edu 37 16 80718715 80718715 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr16:80718715G>A uc002ffs.3 - 1 441 c.336C>T c.(334-336)ccC>ccT p.P112P NM_152342 NP_689555 Q8N8U2 CDYL2_HUMAN Homo sapiens chromodomain protein, Y-like 2 (CDYL2), mRNA. 112 nucleus catalytic activity|protein binding breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1) 21 GCTTGGCCAGGGGAGGGTTAA 0.547000 29 14 0 0 0.00185496 0 0 SMO 6608 broad.mit.edu 37 7 128845484 128845484 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr7:128845484C>T uc003vor.3 + 3 1061 c.781C>T c.(781-783)Cgc>Tgc p.R261C SMO_uc003vos.3_5'Flank NM_005631 NP_005622 Q99835 SMO_HUMAN Homo sapiens smoothened, frizzled family receptor (SMO), mRNA. 261 adenohypophysis development|axon extension involved in axon guidance|canonical Wnt receptor signaling pathway|cardioblast differentiation|central nervous system neuron differentiation|cerebellar cortex morphogenesis|ciliary receptor clustering involved in smoothened signaling pathway|determination of left/right symmetry|dorsal/ventral neural tube patterning|embryonic camera-type eye development|embryonic digestive tract morphogenesis|embryonic neurocranium morphogenesis|embryonic viscerocranium morphogenesis|exocrine pancreas development|facial nerve development|floor plate formation|gonad development|heart morphogenesis|muscle cell fate commitment|negative regulation of apoptosis|neural crest cell migration|neuron fate commitment|neuron projection regeneration|odontogenesis of dentine-containing tooth|osteoblast differentiation|otolith morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of neuroblast proliferation|positive regulation of smoothened signaling pathway|semicircular canal morphogenesis|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation|smoothened signaling pathway involved in ventral spinal cord patterning|spermatogenesis|vasculogenesis cilium|cytoplasm|integral to membrane|neuronal cell body|plasma membrane G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding biliary_tract(1)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(14)|liver(1)|lung(11)|pancreas(2)|prostate(1)|skin(20)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 GAACTCGAATCGCTACCCTGC 0.537000 Mis skin basal cell 118 57 0 0 0.00361006 0 0 PCNX 22990 broad.mit.edu 37 14 71575703 71575703 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr14:71575703C>T uc001xmo.2 + 33 7130 c.6684C>T c.(6682-6684)aaC>aaT p.N2228N PCNX_uc010are.1_Silent_p.N2117N|PCNX_uc010arf.1_Silent_p.N1016N|PCNX_uc001xmp.2_Silent_p.N312N NM_014982 NP_055797 Q96RV3 PCX1_HUMAN Homo sapiens pecanex homolog (Drosophila) (PCNX), mRNA. 2228 integral to membrane NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1) 87 KIRC - Kidney renal clear cell carcinoma(12;0.206) all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417) AGCCAGGCAACACCTTAAGTC 0.512000 48 21 0 0 0.00278032 0 0 MAGEC1 9947 broad.mit.edu 37 X 140994871 140994871 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chrX:140994871C>T uc004fbt.3 + 3 2005 c.1681C>T c.(1681-1683)Cct>Tct p.P561S MAGEC1_uc010nsl.2_Intron|MAGEC1_uc022cfi.1_Missense_Mutation_p.P220S NM_005462 NP_005453 O60732 MAGC1_HUMAN Homo sapiens melanoma antigen family C, 1 (MAGEC1), mRNA. 561 protein binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1) 127 Acute lymphoblastic leukemia(192;6.56e-05) CTCCCTATCTCCTCACTACTT 0.572000 HNSCC(15;0.026) 22 89 0 0 0.00361006 0 0 LOC100192204 100192204 broad.mit.edu 37 10 15197273 15197273 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr10:15197273G>A uc010qca.1 - 0 74 c.47C>T c.(46-48)gCc>gTc p.A16V NMT2_uc001inz.1_Intron|NMT2_uc001ioa.1_Intron|NMT2_uc010qbz.1_Intron Homo sapiens peptidylprolyl isomerase A (cyclophilin A) pseudogene (LOC100192204), non-coding RNA. GTGCCCCAAGGCCTCGCTGTT 0.507000 29 9 0 0 0.000274275 0 0 GRM2 2912 broad.mit.edu 37 3 51749229 51749229 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr3:51749229G>A uc010hlv.3 + 3 1679 c.1440G>A c.(1438-1440)ctG>ctA p.L480L GRM2_uc003dbo.4_5'UTR|GRM2_uc010hlu.3_Non-coding_Transcript NM_000839 NP_000830 Q14416 GRM2_HUMAN Homo sapiens glutamate receptor, metabotropic 2 (GRM2), transcript variant 1, mRNA. 480 synaptic transmission integral to plasma membrane breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 33 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) Acamprosate(DB00659)|Nicotine(DB00184) GCTTGACTCTGGACACCAGCC 0.617000 0 9 0 0 0.000442599 0 0 MYLK 4638 broad.mit.edu 37 3 123419583 123419583 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr3:123419583G>A uc003ego.3 - 17 3014 c.2732C>T c.(2731-2733)tCg>tTg p.S911L MYLK_uc011bjw.2_Missense_Mutation_p.S911L|MYLK_uc003egp.3_Missense_Mutation_p.S842L|MYLK_uc003egq.3_Missense_Mutation_p.S911L|MYLK_uc003egr.3_Missense_Mutation_p.S842L|MYLK_uc003egs.3_Missense_Mutation_p.S735L|MYLK_uc003egt.3_Missense_Mutation_p.S102L NM_053025 NP_444253 Q15746 MYLK_HUMAN Homo sapiens myosin light chain kinase (MYLK), transcript variant 1, mRNA. 911 5 X 28 AA approximate tandem repeats. aorta smooth muscle tissue morphogenesis|muscle contraction cytosol ATP binding|actin binding|calmodulin binding|metal ion binding|myosin light chain kinase activity p.L910I(1) NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 113 Lung NSC(201;0.0496) GBM - Glioblastoma multiforme(114;0.0736) GTCGTCTTCCGATAGGGTCTT 0.582000 43 59 0 0 0.00361006 0 0 SIX1 6495 broad.mit.edu 37 14 61113243 61113243 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr14:61113243G>A uc001xfb.4 - 1 861 c.613C>T c.(613-615)Cct>Tct p.P205S NM_005982 NP_005973 Q15475 SIX1_HUMAN Homo sapiens SIX homeobox 1 (SIX1), mRNA. 205 branching involved in ureteric bud morphogenesis|embryonic cranial skeleton morphogenesis|epithelial cell differentiation|inner ear morphogenesis|mesonephric tubule formation|metanephric mesenchyme development|myoblast migration|negative regulation of neuron apoptosis|organ induction|pattern specification process|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of ureteric bud formation|protein localization to nucleus|regulation of branch elongation involved in ureteric bud branching|regulation of neuron differentiation|skeletal muscle tissue development|thymus development|thyroid gland development nucleolus|transcription factor complex protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding breast(2)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1) 13 OV - Ovarian serous cystadenocarcinoma(108;0.0201) CCTTCCAGAGGAGAGAGTTGG 0.458000 27 43 0 0 0.00361006 0 0 FCRL1 115350 broad.mit.edu 37 1 157773774 157773774 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:157773774G>A uc001frg.3 - 2 293 c.180C>T c.(178-180)gcC>gcT p.A60A FCRL1_uc001frf.3_5'Flank|FCRL1_uc001frh.3_Silent_p.A60A|FCRL1_uc001fri.3_Silent_p.A60A|FCRL1_uc001frj.3_Non-coding_Transcript NM_052938 NP_443170 Q96LA6 FCRL1_HUMAN Homo sapiens Fc receptor-like 1 (FCRL1), transcript variant 1, mRNA. 60 Ig-like C2-type 1. integral to membrane|plasma membrane receptor activity p.A60A(2) breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(24)|ovary(4)|prostate(1)|skin(6) 42 all_hematologic(112;0.0378) LUSC - Lung squamous cell carcinoma(543;0.24) CTGGGCCCAAGGCCCGGGTGT 0.577000 34 57 0 0 0.00361006 0 0 FSCB 84075 broad.mit.edu 37 14 44975634 44975634 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr14:44975634G>A uc001wvn.3 - 0 866 c.557C>T c.(556-558)tCg>tTg p.S186L NM_032135 NP_115511 Q5H9T9 FSCB_HUMAN Homo sapiens fibrous sheath CABYR binding protein (FSCB), mRNA. 186 cilium p.S186S(1) breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1) 89 GBM - Glioblastoma multiforme(112;0.128) CTTTCCCGACGATTTATGTTT 0.373000 103 40 0 0 0.00148497 0 0 IQSEC1 9922 broad.mit.edu 37 3 12977612 12977612 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr3:12977612G>A uc003bxt.2 - 2 955 c.946C>T c.(946-948)Ctg>Ttg p.L316L IQSEC1_uc003bxu.3_Silent_p.L194L|IQSEC1_uc011auw.1_Silent_p.L302L NM_014869 NP_055684 Q6DN90 IQEC1_HUMAN Homo sapiens IQ motif and Sec7 domain 1 (IQSEC1), transcript variant 2, mRNA. 316 regulation of ARF protein signal transduction cytoplasm|nucleus ARF guanyl-nucleotide exchange factor activity breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 GAGAGGGGCAGAGGGGGCGAC 0.677000 35 48 0 0 0.00361006 0 0 DNMBP 23268 broad.mit.edu 37 10 101715157 101715158 + Missense_Mutation DNP GG AA AA rs148247428 TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr10:101715157_101715158GG>AA uc001kqj.2 - 3 2165_2166 c.2073_2074CC>TT c.(2071-2076)tgcccc>tgTTcc p.P692S DNMBP-AS1_uc001kqk.1_Intron NM_015221 NP_056036 Q6XZF7 DNMBP_HUMAN Homo sapiens dynamin binding protein (DNMBP), mRNA. 692 intracellular signal transduction|regulation of Rho protein signal transduction Golgi stack|cell junction|cytoskeleton|synapse Rho guanyl-nucleotide exchange factor activity|protein binding central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1) 61 Colorectal(252;0.234) Epithelial(162;2.94e-10)|all cancers(201;3.15e-08) AGCACTAAGGGGCATGGGGAGG 0.530000 0 24 0 0 6.4e-05 0 0 PCDHGC5 56097 broad.mit.edu 37 5 140794330 140794330 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr5:140794330C>T uc003lkl.2 + 0 1588 c.1588C>T c.(1588-1590)Cat>Tat p.H530Y PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc003lkh.2_Intron|PCDHGC5_uc003lkj.2_Intron|PCDHGC5_uc011day.2_Missense_Mutation_p.H530Y|PCDHGC5_uc003lkm.3_5'Flank|PCDHGC5_uc003lkn.2_5'Flank NM_018913 NP_061736 Q9Y5F6 PCDGM_HUMAN Homo sapiens protocadherin gamma subfamily A, 10 (PCDHGA10), transcript variant 1, mRNA. 528 Cadherin 5. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 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) TGAGCAGTTTCATGAGCTACA 0.532000 72 85 0 0 0.00361006 0 0 NFASC 23114 broad.mit.edu 37 1 204985599 204985599 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:204985599G>A uc010prc.2 + 26 3684 c.2155G>A c.(2155-2157)Gag>Aag p.E719K NFASC_uc001hbj.3_Missense_Mutation_p.E1219K|NFASC_uc010pra.2_Missense_Mutation_p.E1153K|NFASC_uc001hbi.3_Missense_Mutation_p.E1148K|NFASC_uc010prb.2_Missense_Mutation_p.E1168K|NFASC_uc001hbl.2_Missense_Mutation_p.E295K|NFASC_uc001hbm.2_Missense_Mutation_p.E242K|NFASC_uc009xbh.2_Silent_p.R73R|NFASC_uc001hbo.2_Silent_p.R94R O94856 NFASC_HUMAN Homo sapiens neurofascin (NFASC), transcript variant 2, mRNA. 1326 Fibronectin type-III 1. 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) AAAGGACAAGGAGGAAACAGA 0.572000 39 15 0 0 0.000566183 0 0 CTC1 80169 broad.mit.edu 37 17 8137885 8137886 + Missense_Mutation DNP GG AC AC TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr17:8137885_8137886GG>AC uc002gkq.4 - 9 1764_1765 c.1705_1706CC>GT c.(1705-1707)cct>GTt p.P569V CTC1_uc010cnv.3_Non-coding_Transcript NM_025099 NP_079375 Q2NKJ3 CTC1_HUMAN Homo sapiens CTS telomere maintenance complex component 1 (CTC1), mRNA. 569 positive regulation of DNA replication|telomere maintenance Stn1-Ten1 complex protein binding|single-stranded DNA binding NS(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|skin(4) 29 AAGGGCCTTAGGGTCAAAGGAG 0.634000 2 13 0 0 6.4e-05 0 0 RIC3 79608 broad.mit.edu 37 11 8132302 8132302 + Silent SNP G A A rs17852022 byFrequency TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr11:8132302G>A uc010rbm.1 - 5 1191 c.1137C>T c.(1135-1137)acC>acT p.T379T RIC3_uc001mgb.2_Silent_p.T189T|RIC3_uc010rbl.1_Silent_p.T301T|RIC3_uc001mgd.2_Silent_p.T351T|RIC3_uc001mgc.2_Silent_p.T350T|RIC3_uc009yfm.2_Silent_p.T270T|RIC3_uc001mge.2_Silent_p.T169T|RIC3_uc009yfn.2_Silent_p.T154T NM_024557 NP_001193600 Q7Z5B4 RIC3_HUMAN Homo sapiens resistance to inhibitors of cholinesterase 3 homolog (C. elegans) (RIC3), transcript variant 1, mRNA. 351 Golgi membrane|endoplasmic reticulum membrane|integral to membrane p.T350T(1) breast(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1) 17 Epithelial(150;2.89e-07)|BRCA - Breast invasive adenocarcinoma(625;0.204) ATGCTTTATCGGTGCTGATGC 0.478000 51 34 0 0 0.000814825 0 0 NUP210L 91181 broad.mit.edu 37 1 153973397 153973397 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:153973397G>A uc001fdw.3 - 36 5393 c.5321C>T c.(5320-5322)tCc>tTc p.S1774F NUP210L_uc009woq.3_Missense_Mutation_p.S683F|NUP210L_uc010peh.2_Intron NM_207308 NP_997191 Q5VU65 P210L_HUMAN Homo sapiens nucleoporin 210kDa-like (NUP210L), transcript variant 1, mRNA. 1774 integral to membrane NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2) 80 all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128) LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198) GAGTACACAGGAAATATTGAT 0.453000 79 123 0 0 0.00361006 0 0 MXRA5 25878 broad.mit.edu 37 X 3235706 3235706 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chrX:3235706C>T uc004crg.4 - 5 6173 c.6016G>A c.(6016-6018)Gaa>Aaa p.E2006K NM_015419 NP_056234 Q9NR99 MXRA5_HUMAN Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA. 2006 Ig-like C2-type 4. extracellular region p.H2005H(1) NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2) 157 all_lung(23;0.00031)|Lung NSC(23;0.000946) GTCCGGTTTTCGTGCAGGGTG 0.622000 3 25 0 0 0.000720815 0 0 MAP3K5 4217 broad.mit.edu 37 6 136980431 136980431 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr6:136980431G>A uc003qhc.3 - 8 1813 c.1452C>T c.(1450-1452)gcC>gcT p.A484A MAP3K5_uc011edj.2_5'Flank|MAP3K5_uc011edk.1_Silent_p.A329A|MAP3K5_uc010kgw.1_Silent_p.A484A NM_005923 NP_005914 Q99683 M3K5_HUMAN Homo sapiens mitogen-activated protein kinase kinase kinase 5 (MAP3K5), mRNA. 484 activation of JUN kinase activity|activation of MAPKK activity|cellular response to hydrogen peroxide|induction of apoptosis by extracellular signals|interspecies interaction between organisms ATP binding|MAP kinase kinase kinase activity|caspase activator activity|magnesium ion binding|protein homodimerization activity|protein phosphatase binding NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4) 58 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569) CTAGGACGCTGGCCCCCAGAA 0.403000 5 40 0 0 0.00170553 0 0 NOS1 4842 broad.mit.edu 37 12 117681136 117681136 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr12:117681136G>A uc001twn.2 - 19 3741 c.3030C>T c.(3028-3030)ctC>ctT p.L1010L NOS1_uc021ren.1_Silent_p.L640L|NOS1_uc021reo.1_Silent_p.L640L|NOS1_uc001twm.2_Silent_p.L976L NM_001204218 NP_001191147 P29475 NOS1_HUMAN Homo sapiens nitric oxide synthase 1 (neuronal) (NOS1), transcript variant 2, mRNA. 976 FAD-binding FR-type. multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum FMN binding|NADP binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|heme binding|nitric-oxide synthase activity|tetrahydrobiopterin binding NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 117 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.0561) L-Citrulline(DB00155) CCACAAAGGTGAGGCGGAACT 0.517000 55 19 0 0 0.00229938 0 0 CHPF 79586 broad.mit.edu 37 2 220406679 220406679 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:220406679G>A uc002vmc.4 - 1 774 c.547C>T c.(547-549)Cac>Tac p.H183Y CHPF_uc010zlh.2_Missense_Mutation_p.H21Y|TMEM198_uc002vme.3_5'Flank|TMEM198_uc002vmf.3_5'Flank NM_024536 NP_001182660 Q8IZ52 CHSS2_HUMAN Homo sapiens chondroitin polymerizing factor (CHPF), transcript variant 1, mRNA. 183 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|protein binding central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(1)|prostate(1) 21 Renal(207;0.0183) Epithelial(149;3.02e-08)|all cancers(144;3.41e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802) TCCAGCAGGTGGCGCAGCGCC 0.687000 OREG0015229 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 15 13 0 0 0.00185496 0 0 GDF15 9518 broad.mit.edu 37 19 18499352 18499352 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:18499352C>T uc002niv.2 + 1 566 c.534C>T c.(532-534)ccC>ccT p.P178P NM_004864 NP_004855 Q99988 GDF15_HUMAN Homo sapiens growth differentiation factor 15 (GDF15), mRNA. 178 cell-cell signaling|transforming growth factor beta receptor signaling pathway extracellular space cytokine activity|growth factor activity kidney(2)|large_intestine(1)|liver(1)|lung(5)|prostate(2)|skin(1) 12 CCGCACGGCCCCAGCTGGAGT 0.731000 OREG0025363 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 11 6 0 0 0.00116845 0 0 RAB8A 4218 broad.mit.edu 37 19 16238862 16238862 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:16238862C>T uc002ndn.4 + 5 663 c.441C>T c.(439-441)ttC>ttT p.F147F RAB8A_uc010xpc.2_Silent_p.F147F|AK095221_uc021uqd.1_Intron|RAB8A_uc002ndo.4_Missense_Mutation_p.H26Y NM_005370 NP_005361 P61006 RAB8A_HUMAN Homo sapiens RAB8A, member RAS oncogene family (RAB8A), mRNA. 147 Golgi vesicle fusion to target membrane|cilium assembly|protein transport|small GTPase mediated signal transduction|vesicle docking involved in exocytosis Golgi apparatus|nonmotile primary cilium|perinuclear region of cytoplasm|plasma membrane GTP binding|protein binding endometrium(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1) 8 GAATCAAGTTCATGGAGACCA 0.597000 37 14 0 0 0.00316338 0 0 ASPH 444 broad.mit.edu 37 8 62489366 62489367 + Missense_Mutation DNP GG AA AA TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr8:62489366_62489367GG>AA uc003xuj.3 - 15 1382_1383 c.1113_1114CC>TT c.(1111-1116)taccct>taTTct p.P372S ASPH_uc011leg.2_Missense_Mutation_p.P343S|ASPH_uc003xuo.2_Missense_Mutation_p.P353S NM_004318 NP_004309 Q12797 ASPH_HUMAN Homo sapiens aspartate beta-hydroxylase (ASPH), transcript variant 1, mRNA. 372 muscle contraction integral to endoplasmic reticulum membrane calcium ion binding|electron carrier activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity|structural constituent of muscle breast(1)|cervix(1)|endometrium(5)|large_intestine(5)|lung(16)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 35 Lung SC(2;0.153) Lung NSC(129;0.0358)|all_lung(136;0.0654)|all_epithelial(80;0.101) L-Aspartic Acid(DB00128)|Succinic acid(DB00139) GGACTCTGAGGGTATTTGCGTA 0.347000 62 45 0 0 6.4e-05 0 0 BIRC7 79444 broad.mit.edu 37 20 61870912 61870912 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr20:61870912C>T uc002yej.3 + 5 1025 c.852C>T c.(850-852)atC>atT p.I284I BIRC7_uc010gkc.1_3'UTR|BIRC7_uc002yei.3_Silent_p.I266I NM_139317 NP_647478 Q96CA5 BIRC7_HUMAN Homo sapiens baculoviral IAP repeat containing 7 (BIRC7), transcript variant 1, mRNA. 284 DNA fragmentation involved in apoptotic nuclear change|activation of JUN kinase activity|anti-apoptosis cytoplasm|nucleus enzyme binding|zinc ion binding endometrium(1)|kidney(1)|lung(9)|ovary(1) 12 all_cancers(38;2.72e-09) TGTGCCCCATCTGCAGAGCCC 0.716000 21 20 0 0 0.00188189 0 0 SYNE1 23345 broad.mit.edu 37 6 152651188 152651188 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr6:152651188C>T uc021zhb.1 - 75 14855 c.14632G>A c.(14632-14634)Gaa>Aaa p.E4878K SYNE1_uc003qot.4_Missense_Mutation_p.E4807K|SYNE1_uc003qou.4_Missense_Mutation_p.E4878K|SYNE1_uc010kiz.3_Missense_Mutation_p.E633K NM_182961 NP_892006 Q8NF91 SYNE1_HUMAN Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA. 4878 Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere actin binding|lamin binding NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) CTCTCACATTCTGTCACCGTC 0.537000 HNSCC(10;0.0054) 5 31 0 0 0.00375469 0 0 TBX20 57057 broad.mit.edu 37 7 35288414 35288414 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr7:35288414C>T uc011kas.2 - 2 900 c.420G>A c.(418-420)gtG>gtA p.V140V NM_001077653 NP_001071121 Q9UMR3 TBX20_HUMAN Homo sapiens T-box 20 (TBX20), transcript variant 1, mRNA. 140 nucleus DNA binding central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(9)|prostate(1)|skin(1)|stomach(1) 18 CCTCAGGATCCACCCCCGAAA 0.547000 34 22 0 0 0.00332997 0 0 MRPL39 54148 broad.mit.edu 37 21 26960092 26960092 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr21:26960092G>A uc002yln.3 - 9 993 c.979C>T c.(979-981)Ccc>Tcc p.P327S MRPL39_uc002ylo.3_Intron NM_080794 NP_542984 Q9NYK5 RM39_HUMAN Homo sapiens mitochondrial ribosomal protein L39 (MRPL39), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA. 0 mitochondrial ribosome nucleotide binding endometrium(2)|large_intestine(3)|lung(4)|ovary(1) 10 AGGAGAATGGGAAATGGAGTC 0.373000 36 20 0 0 0.00121646 0 0 OTOF 9381 broad.mit.edu 37 2 26702507 26702507 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:26702507C>T uc002rhk.3 - 16 2054 c.1927G>A c.(1927-1929)Gaa>Aaa p.E643K OTOF_uc002rhh.3_5'Flank|OTOF_uc002rhi.3_5'Flank|OTOF_uc002rhj.3_5'Flank NM_194248 NP_919224 Q9HC10 OTOF_HUMAN Homo sapiens otoferlin (OTOF), transcript variant 1, mRNA. 643 cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane calcium ion binding NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 106 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CCATCAACTTCGTTCCCATAG 0.627000 49 12 0 0 0.000422831 0 0 UBN1 29855 broad.mit.edu 37 16 4910869 4910869 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr16:4910869C>T uc002cyb.3 + 6 1215 c.876C>T c.(874-876)ctC>ctT p.L292L UBN1_uc010uxw.2_Silent_p.L292L|UBN1_uc002cyc.3_Silent_p.L292L NM_001079514 NP_058632 Q9NPG3 UBN1_HUMAN Homo sapiens ubinuclein 1 (UBN1), transcript variant 2, mRNA. 292 chromatin modification|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter PML body|tight junction DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 38 TGCTCTCACTCTTTGGCTCTA 0.572000 37 61 0 0 0.00361006 0 0 AZU1 566 broad.mit.edu 37 19 831860 831860 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:831860G>A uc002lpz.1 + 4 755 c.739G>A c.(739-741)Gga>Aga p.G247R NM_001700 NP_001691 P20160 CAP7_HUMAN Homo sapiens azurocidin 1 (AZU1), mRNA. 247 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis|cellular extravasation|defense response to Gram-negative bacterium|glial cell migration|induction of positive chemotaxis|inflammatory response|macrophage chemotaxis|microglial cell activation|monocyte activation|positive regulation of MHC class II biosynthetic process|positive regulation of cell adhesion|positive regulation of fractalkine biosynthetic process|positive regulation of interleukin-1 beta biosynthetic process|positive regulation of phagocytosis|positive regulation of tumor necrosis factor biosynthetic process|proteolysis|regulation of vascular permeability azurophil granule|extracellular region heparin binding|serine-type endopeptidase activity|toxin binding NS(1)|endometrium(1)|kidney(1)|lung(4)|pancreas(1)|upper_aerodigestive_tract(2) 10 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CAACAACCCGGGACCGGGGCC 0.706000 34 42 0 0 0.00361006 0 0 CD300E 342510 broad.mit.edu 37 17 72608905 72608905 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr17:72608905G>A uc002jlb.2 - 3 642 c.505C>T c.(505-507)Ctc>Ttc p.L169F NM_181449 NP_852114 Q496F6 CLM2_HUMAN Homo sapiens CD300e molecule (CD300E), mRNA. 169 integral to membrane|plasma membrane receptor activity breast(1)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 19 GGGCTGCTGAGCCGGAACCTG 0.622000 50 23 0 0 0.000878237 0 0 HLA-DRB5 3127 broad.mit.edu 37 6 32549441 32549441 + Missense_Mutation SNP C G G TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr6:32549441C>G uc003obp.4 - 2 639 c.545G>C c.(544-546)tGg>tCg p.W182S HLA-DRB5_uc003obk.4_Intron|HLA-DRB5_uc021yvx.1_Intron|HLA-DRB5_uc003obo.1_Intron|AK293020_uc010jub.1_5'Flank|HLA-DRB5_uc011dqb.1_Missense_Mutation_p.W12S|HLA-DRB5_uc011dqc.1_Missense_Mutation_p.W12S NM_002124 NP_002115 Q30154 DRB5_HUMAN Homo sapiens major histocompatibility complex, class II, DR beta 1 (HLA-DRB1), transcript variant 1, mRNA. 182 Beta-2.|Ig-like C1-type. antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|immune response Golgi apparatus|MHC class II protein complex|endoplasmic reticulum membrane|integral to membrane|late endosome membrane|lysosomal membrane NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|stomach(2) 10 CTGGAAGGTCCAGTCTCCATT 0.552000 96 10 0 0 0.00074312 0 0 CMKLR1 1240 broad.mit.edu 37 12 108685743 108685743 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr12:108685743G>A uc009zuw.3 - 2 1188 c.997C>T c.(997-999)Cgc>Tgc p.R333C CMKLR1_uc001tmw.3_Missense_Mutation_p.R333C|CMKLR1_uc001tmv.3_Missense_Mutation_p.R331C|CMKLR1_uc009zuv.3_Missense_Mutation_p.R333C|CMKLR1_uc021rdj.1_Missense_Mutation_p.R331C NM_001142345 NP_004063 Q99788 CML1_HUMAN Homo sapiens chemokine-like receptor 1 (CMKLR1), transcript variant 4, mRNA. 333 chemotaxis|immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of interleukin-12 production|positive regulation of macrophage chemotaxis|regulation of calcium-mediated signaling|skeletal system development integral to plasma membrane chemokine receptor activity p.R331G(1) endometrium(5)|large_intestine(3)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3) 37 TTGACCAGGCGAGAGAAGAGG 0.488000 31 29 0 0 0.00127121 0 0 EPPK1 83481 broad.mit.edu 37 8 144942631 144942631 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr8:144942631C>T uc003zaa.1 - 0 4804 c.4791G>A c.(4789-4791)cgG>cgA p.R1597R NM_031308 NP_112598 P58107 EPIPL_HUMAN Homo sapiens epiplakin 1 (EPPK1), mRNA. 1597 cytoplasm|cytoskeleton protein binding|structural molecule activity p.R1597W(1) NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) CTGTGCCAGGCCGCAGGATGT 0.642000 19 25 0 0 0.00395357 0 0 OBSCN 84033 broad.mit.edu 37 1 228471227 228471227 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:228471227G>A uc009xez.1 + 32 8805 c.8761G>A c.(8761-8763)Gag>Aag p.E2921K OBSCN_uc001hsn.3_Missense_Mutation_p.E2921K|OBSCN_uc001hsp.1_Missense_Mutation_p.E620K|OBSCN_uc001hsq.1_Missense_Mutation_p.E177K NM_001098623 NP_001092093 Q5VST9 OBSCN_HUMAN Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA. 2921 Ig-like 29. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction M band|Z disc|cytosol ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|structural constituent of muscle|titin binding NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) CTTCACAGAGGAGCTGACCAA 0.612000 17 27 0 0 0.00283554 0 0 THAP9 79725 broad.mit.edu 37 4 83839111 83839111 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr4:83839111G>A uc003hnt.2 + 4 1865 c.1746G>A c.(1744-1746)gaG>gaA p.E582E THAP9_uc003hns.1_Silent_p.E438E|THAP9_uc003hnu.1_Non-coding_Transcript|THAP9_uc003hnv.2_Silent_p.E299E NM_024672 NP_078948 Q9H5L6 THAP9_HUMAN Homo sapiens THAP domain containing 9 (THAP9), mRNA. 582 DNA binding|metal ion binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(13)|lung(5)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(3) 33 Hepatocellular(203;0.114) TCAATGCTGAGAGCTTAAAAT 0.333000 16 17 0 0 0.000566183 0 0 NOL4 8715 broad.mit.edu 37 18 31802988 31802988 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr18:31802988G>A uc010dmi.3 - 0 528 c.230C>T c.(229-231)gCc>gTc p.A77V NOL4_uc002kxr.4_5'Flank|NOL4_uc010xbt.2_5'Flank|NOL4_uc010dmh.3_5'Flank|NOL4_uc010xbu.2_Missense_Mutation_p.A77V|NOL4_uc002kxt.4_Missense_Mutation_p.A77V NM_003787 NP_001185478 O94818 NOL4_HUMAN Homo sapiens nucleolar protein 4 (NOL4), transcript variant 1, mRNA. 77 nucleolus RNA binding NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 51 CACTTGCTTGGCGCCGCCGCC 0.622000 30 15 0 0 0.000422831 0 0 MAPK8IP3 23162 broad.mit.edu 37 16 1818312 1818312 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr16:1818312C>T uc010uvl.2 + 29 3795 c.3675C>T c.(3673-3675)tcC>tcT p.S1225S MAPK8IP3_uc002cmk.3_Silent_p.S1224S|MAPK8IP3_uc002cml.3_Silent_p.S1214S|MAPK8IP3_uc021tah.1_Silent_p.S1218S NM_015133 NP_055948 Q9UPT6 JIP3_HUMAN Homo sapiens mitogen-activated protein kinase 8 interacting protein 3 (MAPK8IP3), transcript variant 1, mRNA. 1224 vesicle-mediated transport Golgi membrane MAP-kinase scaffold activity|kinesin binding|protein kinase binding NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3) 42 CCTACTGCTCCATGGCCCAGG 0.662000 66 31 0 0 0.00283554 0 0 RBM47 54502 broad.mit.edu 37 4 40440409 40440409 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr4:40440409G>A uc003gvc.2 - 3 1212 c.502C>T c.(502-504)Ctg>Ttg p.L168L RBM47_uc003gvd.2_Silent_p.L168L|RBM47_uc003gve.2_Non-coding_Transcript|RBM47_uc011bys.1_Silent_p.L130L|RBM47_uc003gvg.1_Silent_p.L168L NM_001098634 NP_001092104 A0AV96 RBM47_HUMAN Homo sapiens RNA binding motif protein 47 (RBM47), transcript variant 1, mRNA. 168 RRM 2. nucleus RNA binding|nucleotide binding breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 29 ATCTCCTCCAGGATTTCCTCG 0.642000 50 32 0 0 0.00375469 0 0 PCDHGC5 56097 broad.mit.edu 37 5 140763703 140763703 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr5:140763703G>A uc003lka.2 + 0 1237 c.1237G>A c.(1237-1239)Gaa>Aaa p.E413K PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003ljz.1_Missense_Mutation_p.E413K NM_018920 NP_061743 Q9Y5F6 PCDGM_HUMAN Homo sapiens protocadherin gamma subfamily A, 7 (PCDHGA7), transcript variant 1, mRNA. 415 Cadherin 4. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 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) CTTGGACCGGGAAACACTCTC 0.413000 13 5 0 0 0.00116845 0 0 GPR139 124274 broad.mit.edu 37 16 20043243 20043243 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr16:20043243G>A uc002dgu.1 - 1 1038 c.876C>T c.(874-876)ttC>ttT p.F292F GPR139_uc010vaw.1_Silent_p.F199F NM_001002911 NP_001002911 Q6DWJ6 GP139_HUMAN Homo sapiens G protein-coupled receptor 139 (GPR139), mRNA. 292 integral to membrane|plasma membrane p.R291W(1) autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 30 CCATGGTGCGGAACCGCTTGC 0.507000 54 67 0 0 0.00361006 0 0 IL1RL1 9173 broad.mit.edu 37 2 102958747 102958747 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:102958747G>A uc002tbu.1 + 5 946 c.675G>A c.(673-675)gtG>gtA p.V225V IL1RL1_uc010ywa.2_Silent_p.V108V|IL18R1_uc002tbw.4_Intron|IL1RL1_uc002tbv.3_Silent_p.V225V NM_016232 NP_057316 Q01638 ILRL1_HUMAN Homo sapiens interleukin 1 receptor-like 1 (IL1RL1), transcript variant 1, mRNA. 225 Ig-like C2-type 3. innate immune response integral to membrane interleukin-1 receptor activity|receptor signaling protein activity NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(3)|urinary_tract(1) 16 TAAAGGAAGTGGAAATTGGTA 0.378000 50 37 0 0 0.00195071 0 0 PLA2G4F 255189 broad.mit.edu 37 15 42434766 42434766 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr15:42434766G>A uc001zoz.3 - 18 2381 c.2289C>T c.(2287-2289)ttC>ttT p.F763F PLA2G4F_uc010bcq.3_Silent_p.F60F|PLA2G4F_uc001zoy.3_Silent_p.F395F|PLA2G4F_uc001zpa.3_Silent_p.F514F|PLA2G4F_uc010bcr.3_Silent_p.F514F|PLA2G4F_uc010bcs.3_Silent_p.F550F NM_213600 NP_998765 Q68DD2 PA24F_HUMAN Homo sapiens phospholipase A2, group IVF (PLA2G4F), transcript variant 1, mRNA. 763 PLA2c. phospholipid catabolic process cytosol|lysosomal membrane metal ion binding|phospholipase A2 activity breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 32 all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091) GBM - Glioblastoma multiforme(94;8.97e-07) TAACCAGGGGGAAGTGCAGCA 0.632000 43 35 0 0 0.00195071 0 0 SLAMF8 56833 broad.mit.edu 37 1 159799767 159799767 + Missense_Mutation SNP G A A rs140969397 TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:159799767G>A uc001fue.4 + 1 362 c.152G>A c.(151-153)cGa>cAa p.R51Q NM_020125 NP_064510 Q9P0V8 SLAF8_HUMAN Homo sapiens SLAM family member 8 (SLAMF8), mRNA. 51 integral to membrane p.R51Q(2)|p.W50*(1) endometrium(2)|large_intestine(4)|lung(6) 12 all_hematologic(112;0.0597) GCTATCTGGCGATCTCTCTGG 0.612000 127 72 0 0 0.00361006 0 0 HEXA 3073 broad.mit.edu 37 15 72643516 72643516 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr15:72643516G>A uc002aun.4 - 5 837 c.630C>T c.(628-630)tcC>tcT p.S210S BC034424_uc002aug.3_Non-coding_Transcript|CELF6_uc002auk.3_Intron|HEXA_uc010ukn.2_Silent_p.S221S|HEXA_uc010bix.3_Silent_p.S210S|HEXA_uc010biy.2_Silent_p.S73S|HEXA_uc010uko.1_Silent_p.S36S NM_000520 NP_000511 P06865 HEXA_HUMAN Homo sapiens hexosaminidase A (alpha polypeptide) (HEXA), mRNA. 210 S -> F (in GM2G1; infantile). cell death lysosome beta-N-acetylhexosaminidase activity|cation binding|protein heterodimerization activity p.S210A(1) breast(2)|cervix(1)|endometrium(3)|kidney(3)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 24 CATATGGGAAGGAAGGATCAT 0.453000 38 32 0 0 0.00327116 0 0 APBA1 320 broad.mit.edu 37 9 72055996 72055996 + Silent SNP G A A rs143924269 by1000genomes TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr9:72055996G>A uc004ahh.2 - 10 2493 c.2217C>T c.(2215-2217)atC>atT p.I739I NM_001163 NP_001154 Q02410 APBA1_HUMAN Homo sapiens amyloid beta (A4) precursor protein-binding, family A, member 1 (APBA1), mRNA. 739 PDZ 1. axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission synaptic vesicle endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3) 37 GACATCTCACGATATTCAGCT 0.458000 6 48 0 0 0.00361006 0 0 MCM3AP 8888 broad.mit.edu 37 21 47679005 47679005 + Splice_Site SNP C A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr21:47679005C>A uc002zir.1 - 16 3618 c.3582_splice c.e16-1 p.K1194_splice MCM3AP_uc002zip.1_5'UTR|MCM3AP_uc002ziq.1_Splice_Site_p.K121_splice NM_003906 NP_003897 O60318 MCM3A_HUMAN Homo sapiens minichromosome maintenance complex component 3 associated protein (MCM3AP), mRNA. 1194 DNA replication|protein import into nucleus cytosol|nucleus DNA binding|nucleotide binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 72 Breast(49;0.112) CTACTGCATTCCTAGAAACAG 0.547000 60 56 9.39563e-20 2.75123e-19 0.00361006 1 0 ENGASE 64772 broad.mit.edu 37 17 77079621 77079621 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr17:77079621C>T uc002jwv.3 + 8 1208 c.1200C>T c.(1198-1200)ttC>ttT p.F400F ENGASE_uc002jww.3_Silent_p.F106F NM_001042573 NP_001036038 Q8NFI3 ENASE_HUMAN Homo sapiens endo-beta-N-acetylglucosaminidase (ENGASE), mRNA. 400 cytosol mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity breast(2)|endometrium(4)|large_intestine(1)|lung(15)|prostate(2)|skin(1) 25 CCTTGCCTTTCGTCACGTCCT 0.627000 24 26 0 0 0.00283554 0 0 RORA 6095 broad.mit.edu 37 15 60806938 60806938 + Nonsense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr15:60806938G>A uc002agv.3 - 4 556 c.400C>T c.(400-402)Cag>Tag p.Q134* BC035094_uc002ags.1_Intron|RORA_uc002agt.4_Nonsense_Mutation_p.Q46*|RORA_uc021sni.1_Nonsense_Mutation_p.Q45*|RORA_uc002agw.3_Nonsense_Mutation_p.Q126*|RORA_uc002agx.3_Nonsense_Mutation_p.Q101* NM_134260 NP_599022 P35398 RORA_HUMAN Homo sapiens RAR-related orphan receptor A (RORA), transcript variant 2, mRNA. 134 positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 21 TTGCTTTGCTGACTTCTCCTG 0.428000 28 40 0 0 0.00222228 0 0 OR4X2 119764 broad.mit.edu 37 11 48266881 48266881 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr11:48266881G>A uc001ngs.1 + 0 226 c.226G>A c.(226-228)Gat>Aat p.D76N NM_001004727 NP_001004727 Q8NGF9 OR4X2_HUMAN Homo sapiens olfactory receptor, family 4, subfamily X, member 2 (OR4X2), mRNA. 76 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|large_intestine(4)|lung(12)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1) 20 ACTCATCTCAGATCTGCTGGC 0.512000 46 67 0 0 0.00361006 0 0 OR2L3 391192 broad.mit.edu 37 1 248224344 248224344 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:248224344C>T uc001idx.1 + 0 361 c.361C>T c.(361-363)Cgt>Tgt p.R121C OR2L13_uc001ids.3_Intron NM_001004687 NP_001004687 Q8NG85 OR2L3_HUMAN Homo sapiens olfactory receptor, family 2, subfamily L, member 3 (OR2L3), mRNA. 121 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1) 41 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;0.0278) GGCCTATGATCGTTACATTGC 0.443000 59 95 0 0 0.00361006 0 0 POU2F3 25833 broad.mit.edu 37 11 120180244 120180244 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr11:120180244C>T uc021qrk.1 + 9 1057 c.1023C>T c.(1021-1023)atC>atT p.I341I POU2F3_uc001pxc.3_Silent_p.I339I|POU2F3_uc010rzk.2_Silent_p.I293I|POU2F3_uc010rzl.2_Silent_p.I269I|POU2F3_uc001pxe.1_Silent_p.I124I NM_001244682 NP_001231611 Q9UKI9 PO2F3_HUMAN Homo sapiens POU class 2 homeobox 3 (POU2F3), transcript variant 2, mRNA. 339 negative regulation by host of viral transcription cytoplasm sequence-specific DNA binding large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1) 17 Breast(109;0.0011)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;6.85e-06) AGAAGCGAATCAACTGCCCTG 0.567000 6 13 0 0 0.00244969 0 0 C1orf114 57821 broad.mit.edu 37 1 169391163 169391163 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:169391163G>A uc001gga.1 - 2 674 c.506C>T c.(505-507)aCt>aTt p.T169I C1orf114_uc001gfz.1_Missense_Mutation_p.T169I|C1orf114_uc009wvq.1_Missense_Mutation_p.T169I|C1orf114_uc001ggb.3_Missense_Mutation_p.T169I|C1orf114_uc001ggc.1_Missense_Mutation_p.T169I NM_021179 NP_067002 Q5TID7 CA114_HUMAN Homo sapiens chromosome 1 open reading frame 114 (C1orf114), mRNA. 169 endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)|skin(3) 22 all_hematologic(923;0.208) AAAAGTAGTAGTGTCTTCTAG 0.353000 49 26 0 0 0.00332997 0 0 FLRT1 23769 broad.mit.edu 37 11 63884858 63884858 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr11:63884858C>T uc021qks.1 + 0 1119 c.1119C>T c.(1117-1119)agC>agT p.S373S MACROD1_uc001nyh.3_Intron|FLRT1_uc001nyi.1_Silent_p.S373S NM_013280 NP_037412 Q9NZU1 FLRT1_HUMAN Homo sapiens fibronectin leucine rich transmembrane protein 1 (FLRT1), mRNA. 345 cell adhesion integral to plasma membrane|proteinaceous extracellular matrix protein binding, bridging|receptor signaling protein activity breast(1)|endometrium(3)|large_intestine(6)|lung(2)|prostate(1)|urinary_tract(1) 14 ACATTACCAGCGAGATGGACG 0.682000 24 23 0 0 0.00395357 0 0 PLAUR 5329 broad.mit.edu 37 19 44160715 44160716 + Missense_Mutation DNP CC TA TA TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:44160715_44160716CC>TA uc002oxf.2 - 3 613_614 c.387_388GG>TA c.(385-390)aggggc>agTAgc p.129_130RG>SS PLAUR_uc002oxd.2_Missense_Mutation_p.129_130RG>SS|PLAUR_uc002oxg.2_Missense_Mutation_p.129_130RG>SS NM_002659 NP_002650 Q03405 UPAR_HUMAN Homo sapiens plasminogen activator, urokinase receptor (PLAUR), transcript variant 1, mRNA. 129 UPAR/Ly6 2. C-terminal protein lipidation|attachment of GPI anchor to protein|blood coagulation|cellular component movement|chemotaxis|fibrinolysis|regulation of proteolysis anchored to membrane|cell surface|endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region|extrinsic to membrane|integral to membrane|plasma membrane U-plasminogen activator receptor activity|enzyme binding endometrium(1)|kidney(4)|large_intestine(5)|lung(5)|ovary(1)|stomach(1)|urinary_tract(3) 20 Prostate(69;0.0153) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Streptokinase(DB00086)|Tenecteplase(DB00031)|Urokinase(DB00013) TGGTGCCGGCCCCTCTCACAGC 0.604000 34 19 0 0 6.4e-05 0 0 SLC6A13 6540 broad.mit.edu 37 12 335680 335680 + Splice_Site SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr12:335680C>T uc001qic.2 - 9 1026 c.936_splice c.e9-1 p.R312_splice SLC6A13_uc009zdj.2_Intron|SLC6A13_uc010sdl.2_Splice_Site_p.R220_splice NM_016615 NP_057699 Q9NSD5 S6A13_HUMAN Homo sapiens solute carrier family 6 (neurotransmitter transporter, GABA), member 13 (SLC6A13), transcript variant 1, mRNA. 312 Missing (in Ref. 1; AAF64247). neurotransmitter secretion integral to plasma membrane gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(1) 28 all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142) OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239) CGATGCAGTCCCTGTGGGGCA 0.637000 10 16 0 0 0.00121646 0 0 CD163 9332 broad.mit.edu 37 12 7639971 7639971 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr12:7639971G>A uc001qsz.3 - 7 2162 c.2034C>T c.(2032-2034)gcC>gcT p.A678A CD163_uc001qta.3_Silent_p.A678A|CD163_uc009zfw.2_Silent_p.A711A NM_004244 NP_004235 Q86VB7 C163A_HUMAN Homo sapiens CD163 molecule (CD163), transcript variant 1, mRNA. 678 SRCR 6. acute-phase response extracellular region|integral to plasma membrane protein binding|scavenger receptor activity breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4) 76 AGATTACAGAGGCCACTTGCT 0.483000 16 12 0 0 0.00136819 0 0 KRT4 3851 broad.mit.edu 37 12 53203182 53203182 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr12:53203182C>T uc001saz.3 - 3 1041 c.1041G>A c.(1039-1041)aaG>aaA p.K347K NM_002272 NP_002263 B4DRS2 B4DRS2_HUMAN Homo sapiens keratin 4 (KRT4), mRNA. 273 keratin filament structural molecule activity endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|prostate(2)|skin(2) 29 CATAGAGGACCTTCAGGAAGT 0.532000 66 24 0 0 0.00127121 0 0 SLC6A12 6539 broad.mit.edu 37 12 308072 308072 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr12:308072G>A uc001qhz.3 - 8 1401 c.737C>T c.(736-738)cCg>cTg p.P246L SLC6A12_uc001qhy.3_5'UTR|SLC6A12_uc001qia.3_Missense_Mutation_p.P246L|SLC6A12_uc001qib.3_Missense_Mutation_p.P246L|SLC6A12_uc009zdh.2_Missense_Mutation_p.P246L NM_003044 NP_003035 P48065 S6A12_HUMAN Homo sapiens solute carrier family 6 (neurotransmitter transporter, betaine/GABA), member 12 (SLC6A12), transcript variant 1, mRNA. 246 cellular nitrogen compound metabolic process|neurotransmitter secretion integral to plasma membrane gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 26 all_cancers(10;0.0172)|all_epithelial(11;0.0283)|all_lung(10;0.0392)|Lung NSC(10;0.0567)|Ovarian(42;0.142) OV - Ovarian serous cystadenocarcinoma(31;0.00227) CATCAGGTACGGAAACGTGGC 0.582000 31 23 0 0 0.000878237 0 0 KCNJ10 3766 broad.mit.edu 37 1 160011427 160011427 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:160011427G>A uc001fuw.2 - 1 1136 c.896C>T c.(895-897)tCc>tTc p.S299F NM_002241 NP_002232 P78508 IRK10_HUMAN Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 10 (KCNJ10), mRNA. 299 integral to plasma membrane ATP binding|ATP-activated inward rectifier potassium channel activity breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(1) 17 all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) TGGCAGGTAGGAAGTGCGCAC 0.527000 28 14 0 0 0.00185496 0 0 SLC35F4 341880 broad.mit.edu 37 14 58060803 58060803 + Missense_Mutation SNP G T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr14:58060803G>T uc021rtp.1 - 1 192 c.143C>A c.(142-144)gCc>gAc p.A48D SLC35F4_uc010aoz.1_Non-coding_Transcript|SLC35F4_uc010apa.1_5'UTR NM_001206920 NP_001193849 Homo sapiens solute carrier family 35, member F4 (SLC35F4), mRNA. breast(1)|endometrium(4)|large_intestine(3)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 GGGGCAGTTGGCTCCTGGTTT 0.463000 10 13 7.03913e-09 2.04527e-08 0.00136819 1 0 SALL3 27164 broad.mit.edu 37 18 76753212 76753212 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr18:76753212C>T uc002lmt.3 + 1 1221 c.1221C>T c.(1219-1221)ttC>ttT p.F407F SALL3_uc010dra.3_Silent_p.F14F NM_171999 NP_741996 Q9BXA9 SALL3_HUMAN Homo sapiens sal-like 3 (Drosophila) (SALL3), mRNA. 407 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 74 Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167) OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256) TGTCGGTGTTCGAGCCCAAAG 0.657000 18 11 0 0 0.000673444 0 0 PRSS1 5644 broad.mit.edu 37 7 142457320 142457320 + Splice_Site SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr7:142457320G>A uc003wak.2 + 1 1 c.-16_splice c.e1-1 TRBV5-1_uc011krr.1_Intron|TCRBV2S1_uc003vzp.2_Intron|TCRBV3S1_uc011ksh.2_Intron|TCRBV3S1_uc003vzw.2_Intron|TCRBV3S1_uc011ksi.2_Intron|TCRBV3S1_uc010loj.2_Intron|TCRBV3S1_uc003wag.2_Intron|PRSS1_uc011ksm.1_Splice_Site|PRSS1_uc003wam.2_5'Flank NM_002769 NP_002760 P07477 TRY1_HUMAN Homo sapiens protease, serine, 1 (trypsin 1) (PRSS1), mRNA. digestion|proteolysis extracellular space metal ion binding|protein binding|serine-type endopeptidase activity central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2) 38 Melanoma(164;0.047) all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165) all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189) CCACCAGTCAGGCACACTCTA 0.577000 100 14 0 0 0.00185496 0 0 FBLN7 129804 broad.mit.edu 37 2 112922660 112922660 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:112922660C>T uc002tho.1 + 2 589 c.318C>T c.(316-318)acC>acT p.T106T FBLN7_uc010fki.1_Silent_p.T106T|FBLN7_uc010fkj.1_Silent_p.T106T NM_153214 NP_694946 Q53RD9 FBLN7_HUMAN Homo sapiens fibulin 7 (FBLN7), transcript variant 1, mRNA. 106 Sushi. cell adhesion proteinaceous extracellular matrix calcium ion binding|heparin binding central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 17 TCCATTTTACCTGCAACCCTG 0.572000 49 35 0 0 0.00327116 0 0 ITPR1 3708 broad.mit.edu 37 3 4744524 4744524 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr3:4744524C>T uc003bqc.3 + 34 4852 c.4502C>T c.(4501-4503)cCt>cTt p.P1501L ITPR1_uc021wsi.1_Missense_Mutation_p.P1507L|ITPR1_uc021wsj.1_Missense_Mutation_p.P1492L|ITPR1_uc011asu.2_Intron NM_001168272 NP_001161744 Q14643 ITPR1_HUMAN Homo sapiens inositol 1,4,5-trisphosphate receptor, type 1 (ITPR1), transcript variant 3, mRNA. 1516 activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2) 106 Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982) ACTCGCCAGCCTGTCTTTGTG 0.473000 19 8 0 0 0.00307968 0 0 ZNF525 170958 broad.mit.edu 37 19 53884139 53884139 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:53884139G>A uc010eqn.3 + 3 392 c.199G>A c.(199-201)Gaa>Aaa p.E67K ZNF525_uc002qbl.2_Intron|ZNF765_uc010ydx.2_Intron Homo sapiens zinc finger protein 525 (ZNF525), non-coding RNA. endometrium(3)|kidney(3)|lung(3) 9 TCAGTGGCAAGAAGATGAAAG 0.393000 89 77 0 0 0.00361006 0 0 CYP2E1 1571 broad.mit.edu 37 10 135350625 135350625 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr10:135350625G>A uc001lnj.1 + 6 1059 c.1026G>A c.(1024-1026)aaG>aaA p.K342K CYP2E1_uc001lnk.1_Silent_p.K205K|CYP2E1_uc009ybl.1_Silent_p.K143K|CYP2E1_uc009ybm.1_5'UTR|CYP2E1_uc001lnl.1_Silent_p.K143K NM_000773 NP_000764 P05181 CP2E1_HUMAN Homo sapiens cytochrome P450, family 2, subfamily E, polypeptide 1 (CYP2E1), mRNA. 342 drug metabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding NS(1)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(7)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06) Acetaminophen(DB00316)|Chlorzoxazone(DB00356)|Cinnarizine(DB00568)|Clofibrate(DB00636)|Dacarbazine(DB00851)|Dapsone(DB00250)|Enflurane(DB00228)|Eszopiclone(DB00402)|Ethanol(DB00898)|Ethosuximide(DB00593)|Fomepizole(DB01213)|Glutathione(DB00143)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Isoniazid(DB00951)|Menadione(DB00170)|Mephenytoin(DB00532)|Methoxyflurane(DB01028)|Midazolam(DB00683)|Mitoxantrone(DB01204)|Nicotine(DB00184)|Nifedipine(DB01115)|Nitrofurantoin(DB00698)|Orphenadrine(DB01173)|Phenelzine(DB00780)|Quinidine(DB00908)|S-Adenosylmethionine(DB00118)|Sevoflurane(DB01236)|Theophylline(DB00277)|Tolbutamide(DB01124) CTGCCATCAAGGATAGGCAAG 0.517000 Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of 47 35 0 0 0.000953801 0 0 SLC22A15 55356 broad.mit.edu 37 1 116609274 116609274 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:116609274C>T uc001egb.4 + 10 1629 c.1499C>T c.(1498-1500)tCg>tTg p.S500L NM_018420 NP_060890 Q8IZD6 S22AF_HUMAN Homo sapiens solute carrier family 22, member 15 (SLC22A15), mRNA. 500 ion transport integral to membrane transmembrane transporter activity endometrium(1)|large_intestine(2)|lung(12)|prostate(1)|urinary_tract(1) 17 Lung SC(450;0.184) all_cancers(81;3.17e-06)|all_epithelial(167;2.32e-06)|all_lung(203;9.81e-06)|Lung NSC(69;5.94e-05) Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12) CAGGTGTATTCGTATCGCAGG 0.488000 12 21 0 0 0.00395357 0 0 CPNE6 9362 broad.mit.edu 37 14 24545039 24545039 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr14:24545039G>A uc010tnv.2 + 10 1179 c.1033G>A c.(1033-1035)Gag>Aag p.E345K CPNE6_uc001wlm.3_Missense_Mutation_p.E115K|CPNE6_uc001wll.3_Missense_Mutation_p.E290K|CPNE6_uc001wln.3_5'UTR NM_006032 NP_006023 O95741 CPNE6_HUMAN Homo sapiens copine VI (neuronal) (CPNE6), mRNA. 290 VWFA. lipid metabolic process|nervous system development|synaptic transmission|vesicle-mediated transport calcium ion binding|transporter activity endometrium(4)|large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 22 GBM - Glioblastoma multiforme(265;0.0184) CCTCCAGGTGGAGAAGGTGCA 0.602000 33 14 0 0 0.000566183 0 0 GPR174 84636 broad.mit.edu 37 X 78426883 78426883 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chrX:78426883C>T uc004edg.1 + 0 415 c.379C>T c.(379-381)Cat>Tat p.H127Y NM_032553 NP_115942 Q9BXC1 GP174_HUMAN Homo sapiens G protein-coupled receptor 174 (GPR174), mRNA. 127 integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 38 CTTTCGCTTCCATGACTGCAA 0.458000 HNSCC(63;0.18) 16 70 0 0 0.00361006 0 0 SPACA7 122258 broad.mit.edu 37 13 113030790 113030790 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr13:113030790C>T uc001vsd.2 + 0 140 c.91C>T c.(91-93)Cca>Tca p.P31S NM_145248 NP_660291 Q96KW9 SPAC7_HUMAN Homo sapiens sperm acrosome associated 7 (SPACA7), mRNA. 31 extracellular region large_intestine(5)|lung(4)|skin(3)|urinary_tract(1) 13 AACCGTGATTCCAGGTAGGGC 0.587000 8 8 0 0 0.000274275 0 0 LHX2 9355 broad.mit.edu 37 9 126777382 126777382 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr9:126777382C>T uc010mwi.1 + 2 1068 c.329C>T c.(328-330)tCc>tTc p.S110F LHX2_uc004boe.1_Intron NM_004789 NP_004780 P50458 LHX2_HUMAN Homo sapiens LIM homeobox 2 (LHX2), mRNA. 107 nucleus sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(1) 10 CACAGCCCCTCCCTCCATGGT 0.667000 6 28 0 0 0.00178596 0 0 SCN11A 11280 broad.mit.edu 37 3 38888308 38888308 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr3:38888308C>T uc021wvy.1 - 25 5452 c.5253G>A c.(5251-5253)gtG>gtA p.V1751V NM_014139 NP_054858 Q9UI33 SCNBA_HUMAN Homo sapiens sodium channel, voltage-gated, type XI, alpha subunit (SCN11A), mRNA. 1751 response to drug voltage-gated sodium channel complex voltage-gated sodium channel activity NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3) 119 Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226) Cocaine(DB00907) cacccttggtcaccttCATCA 0.468000 40 80 0 0 0.00361006 0 0 SNTG2 54221 broad.mit.edu 37 2 1168853 1168853 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:1168853G>A uc002qwq.3 + 7 704 c.575G>A c.(574-576)gGa>gAa p.G192E SNTG2_uc010ewi.3_Intron NM_018968 NP_061841 Q9NY99 SNTG2_HUMAN Homo sapiens syntrophin, gamma 2 (SNTG2), mRNA. 192 central nervous system development cytoplasm|cytoskeleton|sarcolemma|syntrophin complex PDZ domain binding|actin binding p.N191K(2)|p.G192R(1) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 52 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.00469) all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173) CATCTGAACGGAAACTCCAGT 0.443000 99 48 0 0 0.00361006 0 0 PRSS36 146547 broad.mit.edu 37 16 31157262 31157262 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr16:31157262G>A uc002ebd.3 - 5 627 c.568C>T c.(568-570)Ccc>Tcc p.P190S PRSS36_uc010vff.2_5'UTR|PRSS36_uc010vfg.2_Missense_Mutation_p.P190S|PRSS36_uc010vfh.2_Missense_Mutation_p.P190S NM_173502 NP_775773 Q5K4E3 POLS2_HUMAN Homo sapiens protease, serine, 36 (PRSS36), mRNA. 190 Peptidase S1 1. proteolysis cytoplasm|proteinaceous extracellular matrix serine-type endopeptidase activity kidney(2)|large_intestine(4)|lung(8)|ovary(3) 17 AGCACCCAGGGGAGAGGCAGA 0.597000 8 14 0 0 0.000566183 0 0 FGD6 55785 broad.mit.edu 37 12 95604944 95604944 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr12:95604944G>A uc001tdp.4 - 1 340 c.116C>T c.(115-117)tCt>tTt p.S39F FGD6_uc009zsx.3_Intron NM_018351 NP_060821 Q6ZV73 FGD6_HUMAN Homo sapiens FYVE, RhoGEF and PH domain containing 6 (FGD6), mRNA. 39 actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape Golgi apparatus|cytoskeleton|lamellipodium|ruffle Rho guanyl-nucleotide exchange factor activity|metal ion binding|small GTPase binding breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 56 TGGAACACTAGAAATCACAAT 0.483000 86 127 0 0 0.00361006 0 0 GK2 2712 broad.mit.edu 37 4 80328367 80328367 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr4:80328367G>A uc003hlu.3 - 0 1006 c.988C>T c.(988-990)Cgt>Tgt p.R330C NM_033214 NP_149991 Q14410 GLPK2_HUMAN Homo sapiens glycerol kinase 2 (GK2), mRNA. 330 glycerol-3-phosphate metabolic process mitochondrial outer membrane ATP binding|glycerol kinase activity 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 CTTAGCCAACGAATAACAGCA 0.428000 33 29 0 0 0.0024448 0 0 SSX8 280659 broad.mit.edu 37 X 52655419 52655419 + RNA SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chrX:52655419C>T uc011moa.1 + 3 c.546C>T SSX8_uc011mob.1_Non-coding_Transcript Homo sapiens synovial sarcoma, X breakpoint 8 (SSX8), non-coding RNA. TGATAATGACCGTAACCGCAG 0.453000 5 46 0 0 0.00361006 0 0 OR13C5 138799 broad.mit.edu 37 9 107361416 107361417 + Missense_Mutation DNP GG AA AA TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr9:107361416_107361417GG>AA uc011lvp.2 - 0 278_279 c.278_279CC>TT c.(277-279)tcc>tTT p.S93F NM_001004482 NP_001004482 Q8NGS8 O13C5_HUMAN Homo sapiens olfactory receptor, family 13, subfamily C, member 5 (OR13C5), mRNA. 93 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(4)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(4) 28 AGCCAGAAAGGGAAATGGTCTT 0.515000 2 14 0 0 6.4e-05 0 0 SLC35F2 54733 broad.mit.edu 37 11 107677459 107677459 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr11:107677459C>T uc001pjq.3 - 3 979 c.558G>A c.(556-558)ggG>ggA p.G186G SLC35F2_uc010rvu.2_Silent_p.G38G|SLC35F2_uc001pjs.3_Silent_p.G186G NM_017515 NP_059985 Q8IXU6 S35F2_HUMAN Homo sapiens solute carrier family 35, member F2 (SLC35F2), mRNA. 186 transport integral to membrane p.A185V(1) breast(1)|central_nervous_system(1)|endometrium(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 8 all_cancers(61;9.46e-06)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;0.000111)|all_hematologic(158;0.000315)|all_epithelial(67;0.00197)|Breast(348;0.104) BRCA - Breast invasive adenocarcinoma(274;3.28e-05)|Epithelial(105;0.000105)|all cancers(92;0.00217) TGTCTTCCCTCCCTGCTAGTA 0.418000 9 34 0 0 0.00170553 0 0 TLR4 7099 broad.mit.edu 37 9 120475851 120475851 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr9:120475851C>T uc004bjz.3 + 2 1736 c.1445C>T c.(1444-1446)tCt>tTt p.S482F TLR4_uc004bkb.3_Missense_Mutation_p.S282F|TLR4_uc004bka.3_Missense_Mutation_p.S442F NM_138554 NP_612564 O00206 TLR4_HUMAN Homo sapiens toll-like receptor 4 (TLR4), transcript variant 1, mRNA. 482 I-kappaB phosphorylation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|T-helper 1 type immune response|Toll signaling pathway|activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|innate immune response|intestinal epithelial structure maintenance|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|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 production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm lipopolysaccharide receptor activity|transmembrane receptor activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1) 103 GCTGGCAATTCTTTCCAGGAA 0.448000 6 49 0 0 0.00361006 0 0 HOXB8 3218 broad.mit.edu 37 17 46691711 46691711 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr17:46691711C>T uc002inw.3 - 0 591 c.356G>A c.(355-357)gGc>gAc p.G119D NM_024016 NP_076921 P17481 HXB8_HUMAN Homo sapiens homeobox B8 (HOXB8), mRNA. 119 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity large_intestine(1)|lung(8)|urinary_tract(2) 11 GGCCTCCTCGCCCAGGCCGCT 0.692000 11 4 0 0 0.00024832 0 0 TECTA 7007 broad.mit.edu 37 11 121039497 121039497 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr11:121039497G>A uc010rzo.2 + 18 5862 c.5862G>A c.(5860-5862)acG>acA p.T1954T NM_005422 NP_005413 O75443 TECTA_HUMAN Homo sapiens tectorin alpha (TECTA), mRNA. 1954 ZP. cell-matrix adhesion|sensory perception of sound anchored to membrane|plasma membrane|proteinaceous extracellular matrix p.T1954T(2) TECTA/TBCEL(2) NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 135 all_hematologic(175;0.208) Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166) TAGTGTTGACGACTCGAGATG 0.483000 14 66 0 0 0.00361006 0 0 CXorf22 170063 broad.mit.edu 37 X 35985752 35985752 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chrX:35985752C>T uc004ddj.3 + 9 1683 c.1617C>T c.(1615-1617)atC>atT p.I539I CXorf22_uc010ngv.3_Non-coding_Transcript NM_152632 NP_689845 Q6ZTR5 CX022_HUMAN Homo sapiens chromosome X open reading frame 22 (CXorf22), mRNA. 539 breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3) 44 TGCCTTCGATCCGTAATCCCA 0.338000 2 11 0 0 0.000978159 0 0 PMFBP1 83449 broad.mit.edu 37 16 72184532 72184532 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr16:72184532C>T uc002fcc.4 - 4 783 c.611G>A c.(610-612)gGg>gAg p.G204E PMFBP1_uc002fcd.3_Missense_Mutation_p.G204E|PMFBP1_uc002fce.3_Non-coding_Transcript|PMFBP1_uc002fcf.3_Missense_Mutation_p.G59E NM_031293 NP_112583 Q8TBY8 PMFBP_HUMAN Homo sapiens polyamine modulated factor 1 binding protein 1 (PMFBP1), transcript variant 1, mRNA. 204 NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1) 45 Ovarian(137;0.179) GCCGAGTTCCCCCTGCAACAT 0.527000 106 47 0 0 0.00361006 0 0 UBAP2L 9898 broad.mit.edu 37 1 154229846 154229846 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:154229846C>T uc001fep.4 + 19 2545 c.2378C>T c.(2377-2379)cCt>cTt p.P793L UBAP2L_uc009wot.3_Missense_Mutation_p.P793L|UBAP2L_uc010pek.2_Missense_Mutation_p.P785L|UBAP2L_uc010pel.2_Missense_Mutation_p.P803L|UBAP2L_uc010pen.2_Missense_Mutation_p.P707L|UBAP2L_uc001feq.3_5'UTR|UBAP2L_uc001fer.3_5'UTR|SNORA58_uc021pae.1_5'Flank NM_014847 NP_055662 Q14157 UBP2L_HUMAN Homo sapiens ubiquitin associated protein 2-like (UBAP2L), transcript variant 1, mRNA. 793 binding of sperm to zona pellucida protein binding NS(2)|breast(7)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|prostate(1)|urinary_tract(2) 50 all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877) LUSC - Lung squamous cell carcinoma(543;0.185) AACCTCCCTCCTGGGGTCCCG 0.473000 30 39 0 0 0.0025221 0 0 IPO5 3843 broad.mit.edu 37 13 98658486 98658486 + Missense_Mutation SNP T A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr13:98658486T>A uc001vne.3 + 16 1834 c.1654T>A c.(1654-1656)Ttt>Att p.F552I IPO5_uc001vnf.1_Missense_Mutation_p.F534I|IPO5_uc010tik.1_Missense_Mutation_p.F409I|IPO5_uc010til.1_Missense_Mutation_p.F474I|IPO5_uc001vng.1_Missense_Mutation_p.F155I NM_002271 NP_002262 O00410 IPO5_HUMAN Homo sapiens importin 5 (IPO5), mRNA. 534 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 CTATGATTTATTTATGCCATC 0.403000 64 59 0 0 0.00361006 0 0 NLRP8 126205 broad.mit.edu 37 19 56466362 56466362 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:56466362C>T uc002qmh.3 + 2 1009 c.938C>T c.(937-939)tCt>tTt p.S313F NLRP8_uc010etg.3_Missense_Mutation_p.S313F NM_176811 NP_789781 Q86W28 NALP8_HUMAN Homo sapiens NLR family, pyrin domain containing 8 (NLRP8), mRNA. 313 NACHT. cytoplasm ATP binding breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2) 35 Colorectal(82;0.000147)|Ovarian(87;0.17) GBM - Glioblastoma multiforme(193;0.0695) TTGCCTGGGTCTGTCCTACTG 0.507000 47 94 0 0 0.00361006 0 0 FAM129A 116496 broad.mit.edu 37 1 184792358 184792358 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:184792358G>A uc001gra.3 - 7 1122 c.928C>T c.(928-930)Cgt>Tgt p.R310C FAM129A_uc001grb.1_Missense_Mutation_p.R73C|FAM129A_uc009wyh.1_Missense_Mutation_p.R138C|FAM129A_uc009wyi.1_Missense_Mutation_p.R108C NM_052966 NP_443198 Q9BZQ8 NIBAN_HUMAN Homo sapiens family with sequence similarity 129, member A (FAM129A), transcript variant 2, mRNA. 310 negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress cytoplasm|nucleus|plasma membrane autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2) 45 ATGTCAGAACGGATCGTTCCT 0.428000 46 23 0 0 0.00332997 0 0 CCT7 10574 broad.mit.edu 37 2 73474974 73474974 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:73474974C>T uc002siz.3 + 6 846 c.703C>T c.(703-705)Ccc>Tcc p.P235S CCT7_uc010yrf.2_Missense_Mutation_p.P191S|CCT7_uc010yrh.2_Missense_Mutation_p.P107S|CCT7_uc010yrg.2_Missense_Mutation_p.P135S|CCT7_uc010yri.2_Missense_Mutation_p.P148S|CCT7_uc002sja.3_Missense_Mutation_p.P31S NM_006429 NP_001159757 Q99832 TCPH_HUMAN Homo sapiens chaperonin containing TCP1, subunit 7 (eta) (CCT7), transcript variant 1, mRNA. 235 'de novo' posttranslational protein folding ATP binding|unfolded protein binding breast(1)|cervix(1)|endometrium(1)|lung(3)|stomach(1) 7 GTACCACAATCCCAAGATTGC 0.433000 28 27 0 0 0.000878237 0 0 LPAR4 2846 broad.mit.edu 37 X 78011239 78011239 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chrX:78011239C>T uc022bzj.1 + 0 873 c.873C>T c.(871-873)atC>atT p.I291I LPAR4_uc010nme.3_Silent_p.I291I NM_005296 NP_005287 Q99677 LPAR4_HUMAN Homo sapiens lysophosphatidic acid receptor 4 (LPAR4), mRNA. 291 integral to plasma membrane lipid binding|purinergic nucleotide receptor activity, G-protein coupled breast(3)|endometrium(3)|kidney(4)|large_intestine(4)|lung(16)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2) 38 TTGCAAAGATCATGTACCCAA 0.418000 1 18 0 0 0.000958276 0 0 CARD9 64170 broad.mit.edu 37 9 139262131 139262131 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr9:139262131C>T uc022bpp.1 - 7 1393 c.1227G>A c.(1225-1227)gtG>gtA p.V409V CARD9_uc004chg.3_Silent_p.V409V|CARD9_uc022bpo.1_Silent_p.V409V|CARD9_uc011mdx.1_Silent_p.V305V NM_052814 NP_434701 Q9H257 CARD9_HUMAN Homo sapiens caspase recruitment domain family, member 9 (CARD9), transcript variant 2, mRNA. 409 positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JNK cascade|positive regulation of stress-activated MAPK cascade|regulation of apoptosis cytoplasm CARD domain binding|protein homodimerization activity p.A408T(1) endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|pancreas(1)|prostate(3)|skin(1) 15 Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;4.58e-06)|Epithelial(140;5.65e-06) GCCTGCCCTCCACGGCCAGTA 0.716000 1 12 0 0 0.00136819 0 0 TRIM11 81559 broad.mit.edu 37 1 228582770 228582770 + Missense_Mutation SNP A G G TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:228582770A>G uc001hss.3 - 5 1298 c.1043T>C c.(1042-1044)gTt>gCt p.V348A TRIM11_uc010pvx.2_Missense_Mutation_p.V347A NM_145214 NP_660215 Q96F44 TRI11_HUMAN Homo sapiens tripartite motif containing 11 (TRIM11), mRNA. 348 B30.2/SPRY. response to virus cytoplasm|nucleus protein binding|zinc ion binding NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|skin(1) 18 Prostate(94;0.0724) GCGGTCCCCAACCTCCACCTC 0.697000 17 15 0 0 0.00316338 0 0 AP3M2 10947 broad.mit.edu 37 8 42024823 42024823 + Silent SNP C T T rs146759837 TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr8:42024823C>T uc003xop.3 + 7 1236 c.945C>T c.(943-945)ccC>ccT p.P315P AP3M2_uc003xoo.3_Silent_p.P315P|AP3M2_uc010lxe.3_Intron NM_001134296 NP_006794 P53677 AP3M2_HUMAN Homo sapiens adaptor-related protein complex 3, mu 2 subunit (AP3M2), transcript variant 1, mRNA. 315 MHD. intracellular protein transport|vesicle-mediated transport Golgi apparatus|clathrin adaptor complex endometrium(3)|kidney(1)|large_intestine(1)|lung(10)|prostate(1)|stomach(1) 17 all_cancers(6;8.14e-25)|all_epithelial(6;2.41e-27)|all_lung(13;5.09e-13)|Lung NSC(13;8.38e-12)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0221)|Lung SC(25;0.211) all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Esophageal squamous(32;0.0954)|Renal(179;0.0983) BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|Colorectal(10;0.00165)|OV - Ovarian serous cystadenocarcinoma(14;0.00346)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024) GCCAGATGCCCAAGGGGGTCC 0.537000 41 18 0 0 0.00074312 0 0 ATP2A3 489 broad.mit.edu 37 17 3853997 3853997 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr17:3853997G>A uc002fwy.2 - 5 707 c.534C>T c.(532-534)tcC>tcT p.S178S ATP2A3_uc002fwz.2_Silent_p.S178S|ATP2A3_uc002fxa.2_Silent_p.S178S|ATP2A3_uc002fxb.2_Silent_p.S178S|ATP2A3_uc002fxc.2_Silent_p.S178S|ATP2A3_uc002fxd.2_Silent_p.S178S|ATP2A3_uc002fwx.2_Silent_p.S178S NM_174953 NP_777613 Q93084 AT2A3_HUMAN Homo sapiens ATPase, Ca++ transporting, ubiquitous (ATP2A3), transcript variant 5, mRNA. 178 ATP biosynthetic process|platelet activation integral to membrane|nuclear membrane|platelet dense tubular network membrane|sarcoplasmic reticulum membrane ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1) 36 LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766) CCGTCAGGATGGACTGGTCCA 0.627000 96 17 0 0 0.00188189 0 0 SIGLEC9 27180 broad.mit.edu 37 19 51628498 51628498 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:51628498C>T uc010yct.2 + 0 362 c.267C>T c.(265-267)gaC>gaT p.D89D SIGLEC9_uc002pvu.3_Silent_p.D89D NM_001198558 NP_001185487 Q9Y336 SIGL9_HUMAN Homo sapiens sialic acid binding Ig-like lectin 9 (SIGLEC9), transcript variant 1, mRNA. 89 Ig-like V-type. cell adhesion|cell surface receptor linked signaling pathway integral to plasma membrane sugar binding NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(3)|lung(25)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 45 all_neural(266;0.0529) GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295) AGACTCGGGACCGATTCCACC 0.552000 99 21 0 0 0.00229938 0 0 TMEM230 29058 broad.mit.edu 37 20 5081503 5081503 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr20:5081503G>A uc002wlk.3 - 4 545 c.486C>T c.(484-486)atC>atT p.I162I TMEM230_uc010gbi.3_Intron|5S_rRNA_uc021wah.1_5'Flank|TMEM230_uc002wll.3_Silent_p.I99I|TMEM230_uc002wlm.3_Silent_p.I99I|TMEM230_uc002wln.3_Silent_p.I99I NM_001009923 NP_054864 Q96A57 CT030_HUMAN Homo sapiens chromosome 20 open reading frame 30 (C20orf30), transcript variant 1, mRNA. 99 integral to membrane CATAGTAAGCGATGCGCAGGT 0.537000 OREG0025754 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 88 7 0 0 0.00198382 0 0 HLA-G 3135 broad.mit.edu 37 6 29797603 29797603 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr6:29797603C>T uc003nnw.2 + 5 1084 c.906C>T c.(904-906)tcC>tcT p.S302S HLA-G_uc021ytw.1_Intron|HLA-G_uc011dmb.2_Silent_p.S274S|HLA-G_uc003raj.3_Silent_p.S307S|HLA-G_uc003nnz.3_Silent_p.S210S|HLA-G_uc010jrn.2_Silent_p.S118S|HLA-G_uc003nny.3_Non-coding_Transcript|HLA-G_uc021ytv.1_Intron|HLA-G_uc003ran.1_Non-coding_Transcript NM_002127 NP_002118 P17693 HLAG_HUMAN Homo sapiens major histocompatibility complex, class I, G (HLA-G), mRNA. 302 Connecting peptide. antigen processing and presentation of peptide antigen via MHC class I|cellular defense response|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway MHC class I protein complex|integral to membrane MHC class I receptor activity p.S301Y(1) central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(5)|skin(1) 21 AGCAGTCTTCCCTGCCCACCA 0.582000 38 35 0 0 0.000953801 0 0 PKNOX2 63876 broad.mit.edu 37 11 125221269 125221269 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr11:125221269C>T uc001qbu.3 + 3 382 c.68C>T c.(67-69)cCc>cTc p.P23L PKNOX2_uc010saz.2_Intron|PKNOX2_uc010sba.2_Intron|PKNOX2_uc010sbb.2_Missense_Mutation_p.P6S NM_022062 NP_071345 Q96KN3 PKNX2_HUMAN Homo sapiens PBX/knotted 1 homeobox 2 (PKNOX2), mRNA. 23 Poly-Pro. nucleus sequence-specific DNA binding transcription factor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(14)|ovary(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 29 Breast(109;0.00234)|all_lung(97;0.0191)|Lung NSC(97;0.0196)|Medulloblastoma(222;0.0447)|all_neural(223;0.116) BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.117) CCGCCCCCACCCTACCAGGAC 0.657000 0 8 0 0 0.000442599 0 0 ADARB2 105 broad.mit.edu 37 10 1406045 1406045 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr10:1406045G>A uc009xhq.3 - 2 581 c.255C>T c.(253-255)tcC>tcT p.S85S NM_018702 NP_061172 Q9NS39 RED2_HUMAN Homo sapiens adenosine deaminase, RNA-specific, B2 (ADARB2), mRNA. 85 mRNA processing mitochondrion|nucleus adenosine deaminase activity|double-stranded RNA binding|metal ion binding|single-stranded RNA binding breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1) 41 all_epithelial(10;0.059)|Colorectal(49;0.0815) all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165) cccggtccccggagggcggtg 0.711000 8 5 0 0 0.000602214 0 0 SLC32A1 140679 broad.mit.edu 37 20 37353485 37353485 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr20:37353485G>A uc002xjc.3 + 0 381 c.118G>A c.(118-120)Gag>Aag p.E40K NM_080552 NP_542119 Q9H598 VIAAT_HUMAN Homo sapiens solute carrier family 32 (GABA vesicular transporter), member 1 (SLC32A1), mRNA. 40 neurotransmitter secretion clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|integral to membrane|plasma membrane|synaptic vesicle membrane vesicular hydrogen:amino acid antiporter activity breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|urinary_tract(1) 38 Myeloproliferative disorder(115;0.00878) Glycine(DB00145) CACGGATGAGGAGGCGGTGGG 0.637000 38 12 0 0 0.00136819 0 0 POTEE 445582 broad.mit.edu 37 2 131976308 131976308 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:131976308G>A uc002tsn.2 + 0 385 c.333G>A c.(331-333)ggG>ggA p.G111G PLEKHB2_uc002tsh.2_Intron|POTEE_uc002tsk.2_5'UTR|POTEE_uc002tsl.2_5'UTR NM_001083538 NP_001077007 Q6S8J3 POTEE_HUMAN Homo sapiens POTE ankyrin domain family, member E (POTEE), mRNA. 111 ATP binding GCTGCAGGGGGAGCGGCAAGA 0.602000 56 46 0 0 0.00361006 0 0 GJA8 2703 broad.mit.edu 37 1 147380211 147380211 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:147380211C>T uc021ovm.1 + 0 129 c.129C>T c.(127-129)ttC>ttT p.F43F GJA8_uc001epu.2_Silent_p.F43F NM_005267 NP_005258 P48165 CXA8_HUMAN Homo sapiens gap junction protein, alpha 8, 50kDa (GJA8), mRNA. 43 cell communication|visual perception connexon complex|integral to plasma membrane channel activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1) 37 all_hematologic(923;0.0276) CCGCAGAGTTCGTGTGGGGGG 0.592000 38 15 0 0 0.000566183 0 0 XKR3 150165 broad.mit.edu 37 22 17288923 17288923 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr22:17288923C>T uc002zlv.3 - 1 139 c.41G>A c.(40-42)gGa>gAa p.G14E XKR3_uc011agf.2_Missense_Mutation_p.G14E NM_175878 NP_787074 Q5GH77 XKR3_HUMAN Homo sapiens XK, Kell blood group complex subunit-related family, member 3 (XKR3), mRNA. 14 integral to membrane|plasma membrane central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977) all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175) TGAAACTCCTCCTGTGCTTTC 0.418000 80 28 0 0 0.0024448 0 0 CASC5 57082 broad.mit.edu 37 15 40902456 40902456 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr15:40902456G>A uc010bbs.1 + 5 372 c.211G>A c.(211-213)Gag>Aag p.E71K CASC5_uc010ucq.1_5'UTR|CASC5_uc001zme.3_Missense_Mutation_p.E71K|CASC5_uc010bbt.1_Missense_Mutation_p.E71K NM_170589 NP_733468 Q8NG31 CASC5_HUMAN Homo sapiens cancer susceptibility candidate 5 (CASC5), transcript variant 1, mRNA. 71 Interaction with BUB1 and BUB1B. CenH3-containing nucleosome assembly at centromere|acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|mitotic prometaphase|spindle assembly checkpoint acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm protein binding NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 57 all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946) GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211) ATTCCAGACGGAGTCTCATAT 0.308000 57 45 0 0 0.00361006 0 0 TP53BP2 7159 broad.mit.edu 37 1 223991885 223991885 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:223991885C>T uc001hod.3 - 6 1064 c.253G>A c.(253-255)Ggg>Agg p.G85R TP53BP2_uc010pvb.2_Missense_Mutation_p.G214R|TP53BP2_uc010pva.2_5'Flank NM_005426 NP_005417 Q13625 ASPP2_HUMAN Homo sapiens tumor protein p53 binding protein, 2 (TP53BP2), transcript variant 2, mRNA. 208 apoptosis|cell cycle|induction of apoptosis|negative regulation of cell cycle|signal transduction nucleus|perinuclear region of cytoplasm NF-kappaB binding|SH3 domain binding|SH3/SH2 adaptor activity|protein binding NS(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(2) 29 GBM - Glioblastoma multiforme(131;0.0958) CCAAGTTTCCCATTGCTTAGT 0.383000 189 61 0 0 0.00361006 0 0 ADORA3 140 broad.mit.edu 37 1 112031393 112031393 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:112031393G>A uc001ebf.3 - 2 1478 c.711C>T c.(709-711)atC>atT p.I237I ADORA3_uc001ebg.4_Silent_p.I156I NM_020683 NP_065734 P33765 AA3R_HUMAN Homo sapiens adenosine A3 receptor (ADORA3), transcript variant 1, mRNA. 0 activation of adenylate cyclase activity|inflammatory response|regulation of heart contraction integral to plasma membrane adenosine receptor activity, G-protein coupled NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|skin(1) 12 all_cancers(81;1.63e-06)|all_epithelial(167;5.01e-06)|all_lung(203;8.02e-05)|Lung NSC(277;0.000156) all cancers(265;0.0185)|Colorectal(144;0.0186)|Lung(183;0.0238)|COAD - Colon adenocarcinoma(174;0.0644)|Epithelial(280;0.0872)|LUSC - Lung squamous cell carcinoma(189;0.134) Adenosine(DB00640)|Aminophylline(DB01223) AGTCCCGCTGGATGCCACACC 0.527000 30 7 0 0 0.000274275 0 0 PDZK1 5174 broad.mit.edu 37 1 145761400 145761400 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:145761400G>A uc001eon.2 + 7 1370 c.1213G>A c.(1213-1215)Gag>Aag p.E405K PDZK1_uc001eoo.2_Missense_Mutation_p.E405K|PDZK1_uc010oza.2_Missense_Mutation_p.E294K NM_002614 NP_002605 Q5T2W1 NHRF3_HUMAN Homo sapiens PDZ domain containing 1 (PDZK1), transcript variant 1, mRNA. 405 PDZ 4. carnitine transport|cell proliferation|drug transport|positive regulation of ion transmembrane transport brush border membrane|cytoplasm PDZ domain binding|transporter activity NS(1)|endometrium(1)|large_intestine(1)|lung(3)|pancreas(1) 7 all_hematologic(18;0.00473)|Acute lymphoblastic leukemia(18;0.0786) KIRC - Kidney renal clear cell carcinoma(6;0.0764)|Kidney(552;0.118)|Colorectal(543;0.229) ATTCATCAAAGAGGTATGGTA 0.458000 19 6 0 0 0.000442599 0 0 SCN10A 6336 broad.mit.edu 37 3 38798333 38798333 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr3:38798333C>T uc003ciq.3 - 8 1122 c.1122G>A c.(1120-1122)atG>atA p.M374I NM_006514 NP_006505 Q9Y5Y9 SCNAA_HUMAN Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA. 374 sensory perception voltage-gated sodium channel complex NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 150 KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945) Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296) CAAAAAAGATCATATAGATTT 0.473000 33 47 0 0 0.00361006 0 0 REG1A 5967 broad.mit.edu 37 2 79349251 79349251 + Splice_Site SNP G T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:79349251G>T uc010ysd.2 + 3 388 c.321_splice c.e3+1 p.K107_splice REG1A_uc010ffx.1_3'UTR|REG1A_uc002snz.3_Splice_Site_p.K107_splice NM_002909 NP_002900 P05451 REG1A_HUMAN Homo sapiens regenerating islet-derived 1 alpha (REG1A), mRNA. 107 C-type lectin. positive regulation of cell proliferation extracellular region growth factor activity|sugar binding 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 ACCCCAAAAAGGTAGGCTGCA 0.488000 45 34 4.62619e-21 1.35523e-20 0.000814825 1 0 CYP4B1 1580 broad.mit.edu 37 1 47280910 47280910 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:47280910C>T uc001cqn.4 + 7 1131 c.1047C>T c.(1045-1047)atC>atT p.I349I CYP4B1_uc009vyl.1_Silent_p.I185I|CYP4B1_uc001cqm.4_Silent_p.I348I|CYP4B1_uc009vym.3_Silent_p.I334I|CYP4B1_uc010omk.2_Silent_p.I185I NM_001099772 NP_001093242 P13584 CP4B1_HUMAN Homo sapiens cytochrome P450, family 4, subfamily B, polypeptide 1 (CYP4B1), transcript variant 1, mRNA. 348 xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 36 Acute lymphoblastic leukemia(166;0.155) TCCGCGAGATCCTAGGGGACC 0.582000 19 27 0 0 0.00178596 0 0 MLL2 8085 broad.mit.edu 37 12 49440416 49440416 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr12:49440416G>A uc001rta.4 - 14 4394 c.4394C>T c.(4393-4395)cCc>cTc p.P1465L NM_003482 NP_003473 O14686 MLL2_HUMAN Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 2 (MLL2), mRNA. 1465 Cys-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 GCCGCCCTTGGGGACGGTGAG 0.562000 """N, F, Mis""" """medulloblastoma, renal""" HNSCC(34;0.089) 101 96 0 0 0.00361006 0 0 ZNF670 93474 broad.mit.edu 37 1 247201468 247201468 + Missense_Mutation SNP G C C TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:247201468G>C uc001icd.2 - 3 670 c.453C>G c.(451-453)atC>atG p.I151M ZNF695_uc001ica.3_Intron|ZNF695_uc001icb.2_Intron|ZNF670_uc021plz.1_Missense_Mutation_p.I150M NM_033213 NP_149990 Q9BS34 ZN670_HUMAN Homo sapiens zinc finger protein 670 (ZNF670), transcript variant 1, mRNA. 151 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1) 17 all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518) all_cancers(173;0.0266) OV - Ovarian serous cystadenocarcinoma(106;0.00427) TGGTGAGAGAGATAAAGGCTT 0.403000 47 86 0 0 0.00361006 0 0 CYP2C9 1559 broad.mit.edu 37 10 96731876 96731876 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr10:96731876C>T uc001kka.4 + 5 860 c.835C>T c.(835-837)Cca>Tca p.P279S CYP2C9_uc009xut.3_Missense_Mutation_p.P277S NM_000771 NP_000762 P11712 CP2C9_HUMAN Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 9 (CYP2C9), mRNA. 279 exogenous drug catabolic process|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid metabolic process|urea metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome (S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|caffeine oxidase activity|drug binding|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 Colorectal(252;0.0902) all cancers(201;6.93e-05) Acenocoumarol(DB01418)|Alosetron(DB00969)|Amiodarone(DB01118)|Antihemophilic Factor(DB00025)|Aprepitant(DB00673)|Bosentan(DB00559)|Carprofen(DB00821)|Carvedilol(DB01136)|Celecoxib(DB00482)|Clomipramine(DB01242)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Desogestrel(DB00304)|Diclofenac(DB00586)|Esomeprazole(DB00736)|Etodolac(DB00749)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Glibenclamide(DB01016)|Glimepiride(DB00222)|Glipizide(DB01067)|Guanfacine(DB01018)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Imipramine(DB00458)|Irbesartan(DB01029)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Losartan(DB00678)|Lumiracoxib(DB01283)|Marinol(DB00470)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mephenytoin(DB00532)|Metronidazole(DB00916)|Miconazole(DB01110)|Midazolam(DB00683)|Montelukast(DB00471)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Oxymorphone(DB01192)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pravastatin(DB00175)|Quinidine(DB00908)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Sertraline(DB01104)|Sildenafil(DB00203)|Sulfamethoxazole(DB01015)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tenoxicam(DB00469)|Terfenadine(DB00342)|Tolbutamide(DB01124)|Torasemide(DB00214)|Troleandomycin(DB01361)|Valdecoxib(DB00580)|Valsartan(DB00177)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744) GCACAACCAACCATCTGAATT 0.363000 12 47 0 0 0.00361006 0 0 MTF1 4520 broad.mit.edu 37 1 38323218 38323218 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:38323218G>A uc001cce.1 - 1 254 c.113C>T c.(112-114)tCc>tTc p.S38F MTF1_uc009vvj.1_5'UTR NM_005955 NP_005946 Q14872 MTF1_HUMAN Homo sapiens metal-regulatory transcription factor 1 (MTF1), mRNA. 38 nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|zinc ion binding endometrium(3)|kidney(5)|large_intestine(6)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1) 31 Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197) Myeloproliferative disorder(586;0.0255) TCCAGATGAGGAAGGCACCAG 0.478000 72 26 0 0 0.00127121 0 0 C20orf194 25943 broad.mit.edu 37 20 3297413 3297413 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr20:3297413G>A uc002wii.2 - 17 1547 c.1496C>T c.(1495-1497)tCc>tTc p.S499F C20orf194_uc002wij.3_Missense_Mutation_p.S238F|C20orf194_uc002wik.2_Missense_Mutation_p.S173F NM_001009984 NP_001009984 Q5TEA3 CT194_HUMAN Homo sapiens chromosome 20 open reading frame 194 (C20orf194), mRNA. 499 NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(15)|prostate(2)|skin(1) 39 CAGGACTACGGAGCTGGTTTC 0.532000 35 13 0 0 0.000566183 0 0 CNGA4 1262 broad.mit.edu 37 11 6261637 6261637 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr11:6261637G>A uc001mco.3 + 3 728 c.613G>A c.(613-615)Gac>Aac p.D205N CNGA4_uc010raa.2_Intron|CNGA4_uc001mcn.3_Missense_Mutation_p.D165N NM_001037329 NP_001032406 Q8IV77 CNGA4_HUMAN Homo sapiens cyclic nucleotide gated channel alpha 4 (CNGA4), mRNA. 205 response to stimulus|sensory perception of smell cAMP binding endometrium(2)|kidney(1)|large_intestine(9)|lung(24)|prostate(3)|skin(1) 40 Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029) Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135) GGTGTACCCGGACCCCGCGCA 0.577000 46 36 0 0 0.000953801 0 0 ACSM5 54988 broad.mit.edu 37 16 20439149 20439149 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr16:20439149C>T uc002dhe.3 + 6 1108 c.961C>T c.(961-963)Cca>Tca p.P321S NM_017888 NP_060358 Q6NUN0 ACSM5_HUMAN Homo sapiens acyl-CoA synthetase medium-chain family member 5 (ACSM5), mRNA. 321 fatty acid metabolic process mitochondrial matrix ATP binding|GTP binding|butyrate-CoA ligase activity|metal ion binding breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1) 51 CTGCTGTGTCCCAACCATCTT 0.468000 65 90 0 0 0.00361006 0 0 MMP26 56547 broad.mit.edu 37 11 5012667 5012667 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr11:5012667C>T uc001lzv.3 + 3 554 c.536C>T c.(535-537)tCt>tTt p.S179F NM_021801 NP_068573 Q9NRE1 MMP26_HUMAN Homo sapiens matrix metallopeptidase 26 (MMP26), mRNA. 179 collagen catabolic process|proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(3)|stomach(1) 22 Medulloblastoma(188;0.0025)|Breast(177;0.0204)|all_neural(188;0.0227) Epithelial(150;1.33e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0287)|LUSC - Lung squamous cell carcinoma(625;0.191) TTACCAAATTCTGGAAATCCT 0.478000 56 34 0 0 0.00209593 0 0 PRX 57716 broad.mit.edu 37 19 40901361 40901361 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:40901361G>A uc002onr.3 - 6 3167 c.2898C>T c.(2896-2898)ctC>ctT p.L966L PRX_uc002onq.3_Silent_p.L827L|PRX_uc002ons.3_3'UTR NM_181882 NP_870998 Q9BXM0 PRAX_HUMAN Homo sapiens periaxin (PRX), transcript variant 2, mRNA. 966 axon ensheathment cytoplasm|nucleus|plasma membrane protein binding breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9) 47 Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384) GAGCCTTGGGGAGTGAGATGG 0.622000 43 25 0 0 0.00395357 0 0 ZNF233 353355 broad.mit.edu 37 19 44778806 44778806 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:44778806G>A uc021uvi.1 + 4 2099 c.1993G>A c.(1993-1995)Gat>Aat p.D665N ZNF235_uc002oyx.1_Intron|ZNF235_uc010eji.3_Intron|ZNF233_uc002oyy.2_Missense_Mutation_p.D480N|ZNF233_uc002oyz.2_Missense_Mutation_p.D665N NM_001207005 NP_001193934 A6NK53 ZN233_HUMAN Homo sapiens zinc finger protein 233 (ZNF233), transcript variant 2, mRNA. 665 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|skin(3)|urinary_tract(1) 20 Prostate(69;0.0435)|all_neural(266;0.226) GTTGTCTTCAGATTCATCAGA 0.408000 12 16 0 0 0.000422831 0 0 KIAA1033 23325 broad.mit.edu 37 12 105514922 105514922 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr12:105514922C>T uc010swr.2 + 8 692 c.605C>T c.(604-606)aCc>aTc p.T202I KIAA1033_uc001tld.3_Missense_Mutation_p.T202I|KIAA1033_uc010sws.2_Missense_Mutation_p.T14I NM_015275 NP_056090 Q2M389 WAHS7_HUMAN Homo sapiens KIAA1033 (KIAA1033), mRNA. 202 endosome transport WASH complex p.L201L(1) breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 41 GTTTTGCTCACCCTGGATGAA 0.328000 41 7 0 0 0.000442599 0 0 CNTN6 27255 broad.mit.edu 37 3 1414033 1414033 + Missense_Mutation SNP G A A rs138019615 byFrequency TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr3:1414033G>A uc003boz.3 + 12 1810 c.1543G>A c.(1543-1545)Gag>Aag p.E515K CNTN6_uc011asj.2_Missense_Mutation_p.E443K|CNTN6_uc003bpa.3_Missense_Mutation_p.E515K NM_014461 NP_055276 Q9UQ52 CNTN6_HUMAN Homo sapiens contactin 6 (CNTN6), mRNA. 515 Ig-like C2-type 6. Notch signaling pathway|axon guidance|cell adhesion|central nervous system development anchored to membrane|plasma membrane breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 90 all_cancers(2;0.000164)|all_epithelial(2;0.107) Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139) TACAGTTGGCGAGAGTATAGT 0.388000 31 34 0 0 0.00148497 0 0 AJUBA 84962 broad.mit.edu 37 14 23451387 23451387 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr14:23451387G>A uc001whz.3 - 0 462 c.89C>T c.(88-90)aCc>aTc p.T30I NM_032876 NP_116265 Q96IF1 JUB_HUMAN Homo sapiens ajuba LIM protein (AJUBA), transcript variant 1, mRNA. 30 PreLIM. cell cycle|gene silencing by miRNA|positive regulation of protein complex assembly cell-cell junction|cytoplasmic mRNA processing body|microtubule organizing center alpha-catenin binding|zinc ion binding CGGCCCGGGGGTCCCGTCAGA 0.672000 20 39 0 0 0.000953801 0 0 JAKMIP3 282973 broad.mit.edu 37 10 133954054 133954054 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr10:133954054C>T uc001lkx.4 + 8 1444 c.1444C>T c.(1444-1446)Ccg>Tcg p.P482S NM_001105521 NP_001098991 Homo sapiens Janus kinase and microtubule interacting protein 3 (JAKMIP3), mRNA. breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2) 31 all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175) OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224) GGACCAGACCCCGTGCACCCC 0.622000 1 11 0 0 0.000978159 0 0 NLRP3 114548 broad.mit.edu 37 1 247597405 247597405 + Splice_Site SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:247597405G>A uc001icr.3 + 7 2466 c.2328_splice c.e7-1 p.W776_splice NLRP3_uc001ics.3_Splice_Site_p.W776_splice|NLRP3_uc001icu.3_Splice_Site_p.W776_splice|NLRP3_uc001icw.3_Splice_Site_p.G719_splice|NLRP3_uc001icv.3_Splice_Site_p.G719_splice|NLRP3_uc010pyw.2_Intron NM_001079821 NP_001230062 Q96P20 NALP3_HUMAN Homo sapiens NLR family, pyrin domain containing 3 (NLRP3), transcript variant 3, mRNA. 776 detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction cytoplasm ATP binding|peptidoglycan binding|protein binding NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 142 all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.0172) OV - Ovarian serous cystadenocarcinoma(106;0.0141) TGGCATGAAGGTTGGGGCGCT 0.572000 55 113 0 0 0.00361006 0 0 SPTY2D1 144108 broad.mit.edu 37 11 18633904 18633904 + Missense_Mutation SNP T G G TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr11:18633904T>G uc001moy.3 - 3 2059 c.1843A>C c.(1843-1845)Ata>Cta p.I615L SPTY2D1_uc010rdi.1_Missense_Mutation_p.I615L NM_194285 NP_919261 Q68D10 SPT2_HUMAN Homo sapiens SPT2, Suppressor of Ty, domain containing 1 (S. cerevisiae) (SPTY2D1), mRNA. 615 breast(4)|cervix(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|skin(1)|stomach(1) 30 TGCTTGGATATTTCTTCCTGA 0.338000 34 51 0 0 0.00361006 0 0 PLD2 5338 broad.mit.edu 37 17 4711584 4711584 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr17:4711584C>T uc002fzc.3 + 3 382 c.256C>T c.(256-258)Ctg>Ttg p.L86L PLD2_uc010vsj.2_5'UTR|PLD2_uc002fzd.3_Silent_p.L86L NM_002663 NP_002654 O14939 PLD2_HUMAN Homo sapiens phospholipase D2 (PLD2), transcript variant 1, mRNA. 86 PX. cell communication|cytoskeleton organization|small GTPase mediated signal transduction NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2) 31 Choline(DB00122) AACCTGCACTCTGTATTCTGT 0.562000 382 44 0 0 0.00361006 0 0 PCDHB3 56132 broad.mit.edu 37 5 140482426 140482426 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr5:140482426C>T uc003lio.3 + 0 2193 c.2193C>T c.(2191-2193)ccC>ccT p.P731P BC016751_uc003lin.3_5'Flank NM_018937 NP_061760 Q9Y5E6 PCDB3_HUMAN Homo sapiens protocadherin beta 3 (PCDHB3), mRNA. 731 calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 72 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CCGAGGGCCCCTTTCCAGGGC 0.652000 32 53 0 0 0.00361006 0 0 FPGT-TNNI3K 100526835 broad.mit.edu 37 1 74905279 74905279 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:74905279G>A uc001dge.2 + 21 2354 c.2287G>A c.(2287-2289)Gaa>Aaa p.E763K FPGT-TNNI3K_uc001dgd.3_Missense_Mutation_p.E763K|FPGT-TNNI3K_uc001dgf.2_Missense_Mutation_p.E662K NM_001112808 NP_001106279 Q59H18 TNI3K_HUMAN Homo sapiens FPGT-TNNI3K readthrough (FPGT-TNNI3K), transcript variant 1, mRNA. 662 cytoplasm|nucleus ATP binding|metal ion binding|protein C-terminus binding|protein serine/threonine kinase activity|troponin I binding TCTCACTGGCGAAATTCCATT 0.438000 80 23 0 0 0.000878237 0 0 ZNF74 7625 broad.mit.edu 37 22 20760622 20760622 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr22:20760622C>T uc010gsm.3 + 5 1511 c.1299C>T c.(1297-1299)ctC>ctT p.L433L ZNF74_uc002zsg.3_Silent_p.L362L|ZNF74_uc002zsh.3_Silent_p.L433L|ZNF74_uc002zsi.3_Silent_p.L362L|ZNF74_uc010gsn.3_Silent_p.L362L NM_003426 NP_003417 Q16587 ZNF74_HUMAN Homo sapiens zinc finger protein 74 (ZNF74), transcript variant 1, mRNA. 433 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) GCCTCACCCTCCACCAGAGGA 0.642000 39 22 0 0 0.00152264 0 0 ITGAX 3687 broad.mit.edu 37 16 31392265 31392265 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr16:31392265C>T uc002ebt.3 + 28 3391 c.3324C>T c.(3322-3324)ctC>ctT p.L1108L ITGAX_uc002ebu.1_Silent_p.L1108L NM_000887 NP_000878 P20702 ITAX_HUMAN Homo sapiens integrin, alpha X (complement component 3 receptor 4 subunit) (ITGAX), mRNA. 1108 blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis integrin complex protein binding|receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 77 CCACCCCCCTCATCGTAGGCA 0.547000 35 35 0 0 0.00148497 0 0 GNB1L 54584 broad.mit.edu 37 22 19789715 19789715 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr22:19789715G>A uc002zqf.1 - 6 778 c.541C>T c.(541-543)Ctt>Ttt p.L181F NM_053004 NP_443730 Q9BYB4 GNB1L_HUMAN Homo sapiens guanine nucleotide binding protein (G protein), beta polypeptide 1-like (GNB1L), mRNA. 181 G-protein coupled receptor protein signaling pathway|intracellular signal transduction internal side of plasma membrane|intracellular breast(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(3)|skin(1) 12 Colorectal(54;0.0993) CCGGCCAGAAGGAGTGGGCGG 0.642000 37 17 0 0 0.000958276 0 0 OR1C1 26188 broad.mit.edu 37 1 247921190 247921190 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:247921190G>A uc010pza.2 - 0 519 c.519C>T c.(517-519)atC>atT p.I173I NM_012353 NP_036485 Q15619 OR1C1_HUMAN Homo sapiens olfactory receptor, family 1, subfamily C, member 1 (OR1C1), mRNA. 173 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(32)|skin(2)|upper_aerodigestive_tract(1) 46 all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858) all_cancers(173;0.0247) OV - Ovarian serous cystadenocarcinoma(106;0.0168) AATGATGGATGATATTGGAGG 0.473000 14 27 0 0 0.000720815 0 0 DDX42 11325 broad.mit.edu 37 17 61886219 61886219 + Missense_Mutation SNP C G G TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr17:61886219C>G uc002jbu.3 + 10 1320 c.1063C>G c.(1063-1065)Ctt>Gtt p.L355V DDX42_uc002jbv.3_Missense_Mutation_p.L355V|DDX42_uc002jbw.1_Missense_Mutation_p.L91V|DDX42_uc002jbx.3_Missense_Mutation_p.L91V|DDX42_uc002jby.3_5'Flank NM_007372 NP_987095 Q86XP3 DDX42_HUMAN Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 42 (DDX42), transcript variant 1, mRNA. 355 Helicase ATP-binding. protein localization|regulation of anti-apoptosis Cajal body|cytoplasm|nuclear speck ATP binding|ATP-dependent helicase activity|RNA binding|protein binding NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3) 46 AGCATATAATCTTCGATCAGT 0.453000 58 40 0 0 0.00195071 0 0 JAG2 3714 broad.mit.edu 37 14 105615329 105615329 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr14:105615329C>T uc001yqg.3 - 13 2255 c.1851G>A c.(1849-1851)ggG>ggA p.G617G JAG2_uc001yqf.3_Silent_p.G21G|JAG2_uc001yqh.3_Silent_p.G579G NM_002226 NP_002217 Q9Y219 JAG2_HUMAN Homo sapiens jagged 2 (JAG2), transcript variant 1, mRNA. 617 EGF-like 10; atypical. Notch receptor processing|Notch signaling pathway|auditory receptor cell fate commitment|cell communication|cell cycle|regulation of cell migration|regulation of cell proliferation|spermatogenesis|thymic T cell selection integral to plasma membrane Notch binding|calcium ion binding|growth factor activity breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5) 22 all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155) OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272) Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208) AAAAGTTGCCCCCTGGCTGGC 0.662000 17 5 0 0 0.00116845 0 0 PCDHGC5 56097 broad.mit.edu 37 5 140754840 140754840 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr5:140754840C>T uc003ljy.2 + 0 1190 c.1190C>T c.(1189-1191)tCa>tTa p.S397L PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc011dau.2_Missense_Mutation_p.S397L NM_018919 NP_061742 Q9Y5F6 PCDGM_HUMAN Homo sapiens protocadherin gamma subfamily A, 6 (PCDHGA6), transcript variant 1, mRNA. 400 Cadherin 4. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 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) TTGGAAAAATCAGTTGGCAAT 0.453000 56 34 0 0 0.00327116 0 0 APOD 347 broad.mit.edu 37 3 195295875 195295875 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr3:195295875G>A uc003fur.2 - 4 828 c.466C>T c.(466-468)Cct>Tct p.P156S NM_001647 NP_001638 P05090 APOD_HUMAN Homo sapiens apolipoprotein D (APOD), mRNA. 156 lipid metabolic process extracellular space lipid binding|lipid transporter activity|protein binding breast(1)|endometrium(1)|large_intestine(1)|lung(1)|ovary(3)|skin(1)|upper_aerodigestive_tract(1) 9 all_cancers(143;1.8e-08)|Ovarian(172;0.0634) Lung NSC(153;0.191) Epithelial(36;1e-21)|all cancers(36;9.02e-20)|OV - Ovarian serous cystadenocarcinoma(49;1.6e-18)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128) GBM - Glioblastoma multiforme(46;1.66e-05) GTTTCTGGAGGGAGATTAGGG 0.443000 65 61 0 0 0.00361006 0 0 MIB2 142678 broad.mit.edu 37 1 1563922 1563922 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:1563922C>T uc001agg.3 + 15 2412 c.2367C>T c.(2365-2367)ctC>ctT p.L789L MIB2_uc001agh.3_Silent_p.L775L|MIB2_uc001agi.3_Silent_p.L785L|MIB2_uc001agj.3_Silent_p.L573L|MIB2_uc001agk.3_Silent_p.L724L|MIB2_uc001agl.2_Silent_p.L688L|MIB2_uc001agm.3_Silent_p.L609L|MIB2_uc010nyq.2_Silent_p.L688L|MIB2_uc009vkh.3_Silent_p.L538L|MIB2_uc001agn.3_Silent_p.L364L|MIB2_uc001ago.3_5'Flank NM_080875 NP_543151 Q96AX9 MIB2_HUMAN Homo sapiens mindbomb homolog 2 (Drosophila) (MIB2), transcript variant 1, mRNA. 732 Notch signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade endosome actin binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding central_nervous_system(1)|endometrium(5)|lung(7)|prostate(4)|upper_aerodigestive_tract(1) 18 all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217) Epithelial(90;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199) CGCTGCATCTCGCCGTGCAAC 0.706000 5 15 0 0 0.00074312 0 0 PCDHB4 56131 broad.mit.edu 37 5 140502793 140502793 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr5:140502793G>A uc003lip.1 + 0 1213 c.1213G>A c.(1213-1215)Gag>Aag p.E405K NM_018938 NP_061761 Q9Y5E5 PCDB4_HUMAN Homo sapiens protocadherin beta 4 (PCDHB4), mRNA. 405 Cadherin 4. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton calcium ion binding autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 67 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CCTGGTAACAGAGAGACCACT 0.453000 33 7 0 0 0.00198382 0 0 FBXO18 84893 broad.mit.edu 37 10 5979201 5979201 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr10:5979201C>T uc001iit.3 + 21 3347 c.3243C>T c.(3241-3243)atC>atT p.I1081I FBXO18_uc001iir.3_Silent_p.I973I|FBXO18_uc001iis.3_Silent_p.I1030I|FBXO18_uc009xig.3_Silent_p.I956I NM_032807 NP_835363 Q8NFZ0 FBX18_HUMAN Homo sapiens F-box protein, helicase, 18 (FBXO18), transcript variant 1, mRNA. 1030 DNA repair nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding NS(2)|breast(2)|kidney(2)|large_intestine(16)|lung(9)|ovary(2)|prostate(3)|skin(3)|stomach(1) 40 TGGAGAACATCGTACTGCCCC 0.662000 3 11 0 0 0.00136819 0 0 AGAP1 116987 broad.mit.edu 37 2 236708057 236708057 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:236708057C>T uc002vvs.3 + 7 1446 c.848C>T c.(847-849)cCa>cTa p.P283L AGAP1_uc002vvt.3_Missense_Mutation_p.P283L|AGAP1_uc021vyp.1_Missense_Mutation_p.P283L NM_001037131 NP_001032208 Q9UPQ3 AGAP1_HUMAN Homo sapiens ArfGAP with GTPase domain, ankyrin repeat and PH domain 1 (AGAP1), transcript variant 1, mRNA. 283 protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction cytoplasm ARF GTPase activator activity|GTP binding|zinc ion binding p.P283S(1) breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 41 TCCTCCGTTCCATCGACTCCC 0.517000 25 33 0 0 0.000953801 0 0 TCRA 0 broad.mit.edu 37 14 22539378 22539378 + Missense_Mutation SNP A G G TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr14:22539378A>G uc001wcy.3 + 1 285 c.274A>G c.(274-276)Agc>Ggc p.S92G TCRA_uc001wbw.2_Intron|TCR-alpha_uc021rpg.1_Intron|AV2S1A1_uc010aiv.1_Intron|T-Cell_Receptor_V-alpha_region_uc021rpl.1_Intron|TCRA_uc010tmo.2_Intron|TCRA_uc001wco.3_Intron|TCRA_uc010aje.1_Intron|TCRA_uc001wcp.2_Intron|TCRA_uc001wcr.1_Intron|TCRA_uc001wcs.1_Intron|TCRA_uc010ajf.1_Intron|TCRA_uc001wcu.4_Intron|TCRA_uc021rpn.1_Intron|TCRA_uc001wcx.4_Intron|TCRA_uc021rpq.1_Non-coding_Transcript Homo sapiens mRNA for T cell receptor alpha variable 22, partial cds, clone: SEB 209. TGGAAGATTAAGCGCCACGAC 0.473000 20 38 0 0 0.00128727 0 0 ACTB 60 broad.mit.edu 37 7 5568857 5568857 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr7:5568857C>T uc003sot.4 - 2 382 c.298G>A c.(298-300)Gag>Aag p.E100K ACTB_uc003sor.4_5'UTR|ACTB_uc003soq.4_5'UTR NM_001101 NP_001092 P60709 ACTB_HUMAN Homo sapiens actin, beta (ACTB), mRNA. 100 'de novo' posttranslational protein folding|adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement MLL5-L complex|NuA4 histone acetyltransferase complex|cytoskeleton|cytosol|ribonucleoprotein complex ATP binding|kinesin binding|nitric-oxide synthase binding|structural constituent of cytoskeleton NS(1)|central_nervous_system(1)|large_intestine(2)|lung(2)|prostate(2) 8 Ovarian(82;0.0606) UCEC - Uterine corpus endometrioid carcinoma (126;0.175)|OV - Ovarian serous cystadenocarcinoma(56;4.24e-37) ACGGGGTGCTCCTCGGGAGCC 0.627000 38 35 0 0 0.000814825 0 0 C14orf159 80017 broad.mit.edu 37 14 91647628 91647628 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr14:91647628C>T uc001xyw.2 + 7 1181 c.829C>T c.(829-831)Cca>Tca p.P277S C14orf159_uc010atv.1_Non-coding_Transcript|C14orf159_uc001xyy.2_Missense_Mutation_p.P277S|C14orf159_uc001xyz.2_Missense_Mutation_p.P148S|C14orf159_uc001xzb.2_Missense_Mutation_p.P272S|C14orf159_uc001xyx.2_Missense_Mutation_p.P260S|C14orf159_uc001xzc.2_Missense_Mutation_p.P272S|C14orf159_uc001xza.2_Missense_Mutation_p.P277S|C14orf159_uc001xyv.2_Missense_Mutation_p.P277S|C14orf159_uc001xze.2_Missense_Mutation_p.P272S NM_001102368 NP_001095838 Q7Z3D6 CN159_HUMAN Homo sapiens chromosome 14 open reading frame 159 (C14orf159), transcript variant 4, mRNA. 272 mitochondrion NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 21 all_cancers(154;0.0191)|all_epithelial(191;0.241) Epithelial(152;0.141)|OV - Ovarian serous cystadenocarcinoma(161;0.207) AGAGAGAATTCCAGAGGTCCA 0.512000 44 18 0 0 0.00074312 0 0 OSBP2 23762 broad.mit.edu 37 22 31091279 31091280 + Missense_Mutation DNP CC TT TT TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr22:31091279_31091280CC>TT uc003aiy.1 + 0 487_488 c.383_384CC>TT c.(382-384)tcc>tTT p.S128F OSBP2_uc011ala.1_Intron|OSBP2_uc010gwc.1_Intron|OSBP2_uc003aix.1_Missense_Mutation_p.S128F|OSBP2_uc011alb.1_Missense_Mutation_p.S128F|OSBP2_uc003aiz.1_Missense_Mutation_p.S128F NM_030758 NP_110385 Q969R2 OSBP2_HUMAN Homo sapiens oxysterol binding protein 2 (OSBP2), transcript variant 1, mRNA. 128 lipid transport membrane lipid binding breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(6)|ovary(1)|skin(3)|urinary_tract(1) 19 GAGCCGCTCTCCCGGGCGGTGG 0.668000 42 38 0 0 6.4e-05 0 0 BMP1 649 broad.mit.edu 37 8 22033822 22033822 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr8:22033822C>T uc003xbg.3 + 2 695 c.429C>T c.(427-429)ttC>ttT p.F143F BMP1_uc011kzb.2_Non-coding_Transcript|BMP1_uc003xbf.3_5'UTR|BMP1_uc003xbb.3_Silent_p.F143F|BMP1_uc003xbc.3_5'UTR|BMP1_uc003xbd.3_Non-coding_Transcript|BMP1_uc003xbe.3_Non-coding_Transcript|BMP1_uc011kzc.2_5'UTR|BMP1_uc003xbh.3_Non-coding_Transcript|BMP1_uc003xbi.3_Non-coding_Transcript NM_006129 NP_006120 P13497 BMP1_HUMAN Homo sapiens bone morphogenetic protein 1 (BMP1), transcript variant 3, mRNA. 143 Metalloprotease. cartilage condensation|cell differentiation|lipid metabolic process|lipoprotein metabolic process|ossification|positive regulation of cartilage development|proteolysis extracellular space calcium ion binding|cytokine activity|growth factor activity|metalloendopeptidase activity|zinc ion binding breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3) 30 Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11) GGGGAAACTTCACTGGTGAGC 0.652000 33 12 0 0 0.00185496 0 0 DUSP26 78986 broad.mit.edu 37 8 33451117 33451117 + Missense_Mutation SNP A T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr8:33451117A>T uc003xjp.3 - 2 703 c.370T>A c.(370-372)Ttt>Att p.F124I DUSP26_uc003xjq.3_Missense_Mutation_p.F124I NM_024025 NP_076930 Q9BV47 DUS26_HUMAN Homo sapiens dual specificity phosphatase 26 (putative) (DUSP26), mRNA. 124 Tyrosine-protein phosphatase. Golgi apparatus|nucleus protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity NS(1)|breast(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1) 15 KIRC - Kidney renal clear cell carcinoma(67;0.0918)|Kidney(114;0.111) CTCATGTCAAAGGCTGGCGAG 0.642000 65 11 0 0 0.000673444 0 0 NNT 23530 broad.mit.edu 37 5 43659398 43659398 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr5:43659398C>T uc003joe.3 + 16 2835 c.2580C>T c.(2578-2580)atC>atT p.I860I NNT_uc003jof.3_Silent_p.I860I NM_012343 NP_892022 Q13423 NNTM_HUMAN Homo sapiens nicotinamide nucleotide transhydrogenase (NNT), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 860 tricarboxylic acid cycle integral to membrane|mitochondrial respiratory chain NAD binding|NAD(P)+ transhydrogenase (AB-specific) activity|NAD(P)+ transhydrogenase (B-specific) activity|NADP binding breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 Lung NSC(6;2.58e-06) NADH(DB00157) TGCTGACCATCGTGGGTGCAC 0.507000 9 54 0 0 0.00361006 0 0 OSBPL2 9885 broad.mit.edu 37 20 60838688 60838688 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr20:60838688C>T uc002yck.1 + 3 401 c.199C>T c.(199-201)Ccc>Tcc p.P67S OSBPL2_uc002ycl.1_Missense_Mutation_p.P55S|OSBPL2_uc011aah.1_5'UTR NM_144498 NP_653081 Q9H1P3 OSBL2_HUMAN Homo sapiens oxysterol binding protein-like 2 (OSBPL2), transcript variant 2, mRNA. 67 lipid transport lipid binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 17 Breast(26;7.76e-09) BRCA - Breast invasive adenocarcinoma(19;1.33e-06) GCTGCCGGCTCCCATGTTCAG 0.577000 83 34 0 0 0.000953801 0 0 FGFR4 2264 broad.mit.edu 37 5 176524556 176524556 + Missense_Mutation SNP C G G TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr5:176524556C>G uc003mfl.3 + 17 2455 c.2288C>G c.(2287-2289)cCc>cGc p.P763R FGFR4_uc003mfm.3_Missense_Mutation_p.P763R|FGFR4_uc011dfu.2_Missense_Mutation_p.P695R|FGFR4_uc003mfo.3_Missense_Mutation_p.P723R NM_002011 NP_998812 P22455 FGFR4_HUMAN Homo sapiens fibroblast growth factor receptor 4 (FGFR4), transcript variant 1, mRNA. 763 insulin receptor signaling pathway|positive regulation of cell proliferation integral to plasma membrane ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2) 34 all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) Palifermin(DB00039) ACCTTCGGACCCTATTCCCCC 0.667000 TSP Lung(9;0.080) 32 14 0 0 0.00244969 0 0 PHYH 5264 broad.mit.edu 37 10 13330474 13330474 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr10:13330474G>A uc001imf.3 - 5 652 c.564C>T c.(562-564)ctC>ctT p.L188L PHYH_uc001ime.3_Silent_p.L88L NM_006214 NP_001032626 O14832 PAHX_HUMAN Homo sapiens phytanoyl-CoA 2-hydroxylase (PHYH), transcript variant 1, mRNA. 188 fatty acid alpha-oxidation|nervous system development peroxisomal matrix L-ascorbic acid binding|electron carrier activity|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|phytanoyl-CoA dioxygenase activity|protein binding NS(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2) 25 Ovarian(717;0.0448) Antihemophilic Factor(DB00025)|Vitamin C(DB00126) CGCAAACGATGAGATCGCTGG 0.577000 23 40 0 0 0.00361006 0 0 PPM1D 8493 broad.mit.edu 37 17 58678186 58678186 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr17:58678186G>A uc002iyt.2 + 0 643 c.411G>A c.(409-411)aaG>aaA p.K137K PPM1D_uc010ddm.2_Non-coding_Transcript NM_003620 NP_003611 O15297 PPM1D_HUMAN Homo sapiens protein phosphatase, Mg2+/Mn2+ dependent, 1D (PPM1D), mRNA. 137 PP2C-like. negative regulation of cell proliferation|protein dephosphorylation|response to radiation nucleus|protein serine/threonine phosphatase complex metal ion binding|protein binding|protein serine/threonine phosphatase activity haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 15 all_neural(34;0.0878)|Medulloblastoma(34;0.0922) Epithelial(12;6.75e-12)|all cancers(12;1.96e-10) AGCCGGCTAAGGTTTGCGCTG 0.602000 36 57 0 0 0.00361006 0 0 OR2M4 26245 broad.mit.edu 37 1 248402323 248402323 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:248402323C>T uc010pzh.2 + 0 93 c.93C>T c.(91-93)gtC>gtT p.V31V NM_017504 NP_059974 Q96R27 OR2M4_HUMAN Homo sapiens olfactory receptor, family 2, subfamily M, member 4 (OR2M4), mRNA. 31 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.V31F(1) NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(27)|skin(3)|upper_aerodigestive_tract(2) 50 all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0245) TTTCTCTGGTCCTGGGCATCT 0.478000 35 43 0 0 0.00285205 0 0 FAT4 79633 broad.mit.edu 37 4 126402778 126402778 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr4:126402778G>A uc003ifj.4 + 14 12701 c.12701G>A c.(12700-12702)cGa>cAa p.R4234Q FAT4_uc011cgp.2_Missense_Mutation_p.R2475Q|FAT4_uc003ifi.1_Missense_Mutation_p.R1712Q NM_024582 NP_078858 Q6V0I7 FAT4_HUMAN Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA. 4234 Laminin G-like 2. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 CAAAGCTTACGAGGTGCCATG 0.443000 35 23 0 0 0.00278032 0 0 COL20A1 57642 broad.mit.edu 37 20 61939414 61939414 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr20:61939414C>T uc011aau.2 + 6 847 c.747C>T c.(745-747)ctC>ctT p.L249L COL20A1_uc011aav.2_Silent_p.L70L NM_020882 NP_065933 Q9P218 COKA1_HUMAN Homo sapiens collagen, type XX, alpha 1 (COL20A1), mRNA. 249 VWFA. cell adhesion collagen|extracellular space structural molecule activity NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2) 36 all_cancers(38;1.39e-10) TGCGCCGCCTCCGCTACAAGG 0.657000 69 23 0 0 0.00395357 0 0 MYH11 4629 broad.mit.edu 37 16 15815296 15815296 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr16:15815296C>T uc002ddx.3 - 32 4689 c.4582G>A c.(4582-4584)Gat>Aat p.D1528N MYH11_uc002ddv.3_Missense_Mutation_p.D1528N|MYH11_uc002ddw.3_Missense_Mutation_p.D1521N|MYH11_uc002ddy.3_Missense_Mutation_p.D1521N|MYH11_uc010bvg.3_Missense_Mutation_p.D1353N|NDE1_uc010uzy.2_Intron|NDE1_uc002dds.3_Intron|MYH11_uc010bvh.3_Missense_Mutation_p.D227N|NDE1_uc002ddz.1_5'Flank NM_001040114 NP_001035203 P35749 MYH11_HUMAN Homo sapiens myosin, heavy chain 11, smooth muscle (MYH11), transcript variant SM1B, mRNA. 1521 axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction cytosol|melanosome|muscle myosin complex|myosin filament ATP binding|actin binding|calmodulin binding|motor activity|structural constituent of muscle NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1) 123 CCCACGTCATCCTTGGAGCTG 0.557000 T CBFB AML 26 35 0 0 0.00111076 0 0 FBXO10 26267 broad.mit.edu 37 9 37521630 37521630 + Missense_Mutation SNP G C C TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr9:37521630G>C uc004aac.3 - 7 2264 c.2184C>G c.(2182-2184)gaC>gaG p.D728E FBXO10_uc004aab.3_Missense_Mutation_p.D712E|FBXO10_uc004aad.3_Missense_Mutation_p.D262E NM_012166 NP_036298 Q9UK96 FBX10_HUMAN Homo sapiens F-box protein 10 (FBXO10), mRNA. 712 ubiquitin ligase complex ubiquitin-protein ligase activity p.D712D(1) breast(1)|endometrium(5)|large_intestine(11)|lung(15)|prostate(1)|upper_aerodigestive_tract(1) 34 GBM - Glioblastoma multiforme(29;0.0107) GCAGTGGGTCGTCCTCCTTCT 0.562000 3 13 0 0 0.00185496 0 0 OR4D2 124538 broad.mit.edu 37 17 56247838 56247838 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr17:56247838C>T uc010wnp.2 + 0 822 c.822C>T c.(820-822)ggC>ggT p.G274G NM_001004707 NP_001004707 P58180 OR4D2_HUMAN Homo sapiens olfactory receptor, family 4, subfamily D, member 2 (OR4D2), mRNA. 274 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|kidney(1)|large_intestine(1)|lung(19)|ovary(1)|skin(2)|stomach(1) 26 TGTCCATCGGCCACACAGTCA 0.532000 50 73 0 0 0.00361006 0 0 ACAP1 9744 broad.mit.edu 37 17 7250233 7250233 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr17:7250233C>T uc002ggd.2 + 12 1320 c.1114C>T c.(1114-1116)Ccc>Tcc p.P372S NM_014716 NP_055531 Q15027 ACAP1_HUMAN Homo sapiens ArfGAP with coiled-coil, ankyrin repeat and PH domains 1 (ACAP1), mRNA. 372 Required for formation of endosomal tubules when overexpressed with PIP5K1C. intracellular signal transduction|lipid metabolic process|protein transport|regulation of ARF GTPase activity ARF GTPase activator activity|phospholipase C activity|protein binding|zinc ion binding NS(1)|breast(5)|cervix(3)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(3)|skin(1)|urinary_tract(1) 33 TGATGACAGCCCCCGGGGTCC 0.637000 8 67 0 0 0.00361006 0 0 PCDH7 5099 broad.mit.edu 37 4 30732387 30732387 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr4:30732387C>T uc003gsk.1 + 1 4195 c.3187C>T c.(3187-3189)Cca>Tca p.P1063S PCDH7_uc011bxx.2_Intron|PCDH7_uc021xnd.1_Intron NM_002589 NP_002580 O60245 PCDH7_HUMAN Homo sapiens protocadherin 7 (PCDH7), transcript variant a, mRNA. 1063 homophilic cell adhesion integral to plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 55 GCGTCTACATCCATACATTAC 0.393000 44 17 0 0 0.00152264 0 0 ITFG3 83986 broad.mit.edu 37 16 304607 304607 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr16:304607C>T uc002cgf.3 + 2 390 c.195C>T c.(193-195)gtC>gtT p.V65V LUC7L_uc021szo.1_Intron|ITFG3_uc010bqr.2_Intron|ITFG3_uc002cgg.2_Silent_p.V65V|ITFG3_uc010uud.1_Non-coding_Transcript|ITFG3_uc002cgh.3_Silent_p.V65V NM_032039 NP_114428 Q9H0X4 ITFG3_HUMAN Homo sapiens integrin alpha FG-GAP repeat containing 3 (ITFG3), mRNA. 65 integral to membrane central_nervous_system(3)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 16 all_cancers(16;0.000129)|all_epithelial(16;0.000206)|Hepatocellular(16;0.00264)|Lung NSC(18;0.0626)|all_lung(18;0.13) TGGTGTTCGTCGTCTCATTCG 0.597000 97 154 0 0 0.00361006 0 0 UMOD 7369 broad.mit.edu 37 16 20355393 20355394 + Missense_Mutation DNP GG AA AA TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr16:20355393_20355394GG>AA uc002dhb.3 - 6 1511_1512 c.1382_1383CC>TT c.(1381-1383)ccc>cTT p.P461L UMOD_uc002dgz.3_Missense_Mutation_p.P428L|UMOD_uc002dha.3_Missense_Mutation_p.P428L NM_003361 NP_003352 P07911 UROM_HUMAN Homo sapiens uromodulin (UMOD), transcript variant 1, mRNA. 428 ZP. cellular defense response|negative regulation of cell proliferation anchored to membrane|apical plasma membrane|basolateral plasma membrane|cilium membrane|extrinsic to membrane|primary cilium|spindle pole calcium ion binding endometrium(5)|kidney(1)|large_intestine(7)|lung(20)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 41 TCATGTCCAGGGGGTAGGAGCA 0.535000 34 19 0 0 6.4e-05 0 0 FAIM2 23017 broad.mit.edu 37 12 50295080 50295080 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr12:50295080G>A uc001rvj.2 - 1 229 c.44C>T c.(43-45)aCc>aTc p.T15I FAIM2_uc001rvi.2_5'UTR NM_012306 NP_036438 Q9BWQ8 FAIM2_HUMAN Homo sapiens Fas apoptotic inhibitory molecule 2 (FAIM2), mRNA. 15 anti-apoptosis|apoptosis cell junction|integral to membrane|postsynaptic membrane endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|skin(2) 14 CTGCCCCTCGGTCCCAGGGGC 0.607000 41 33 0 0 0.000814825 0 0 ZNF608 57507 broad.mit.edu 37 5 123977036 123977036 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr5:123977036G>A uc003ktq.1 - 6 4542 c.4359C>T c.(4357-4359)tcC>tcT p.S1453S ZNF608_uc003ktr.1_Intron|ZNF608_uc003ktp.1_Silent_p.S148S NM_020747 NP_065798 Q9ULD9 ZN608_HUMAN Homo sapiens zinc finger protein 608 (ZNF608), mRNA. 1453 intracellular zinc ion binding breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1) 46 all_cancers(142;0.186)|Prostate(80;0.081) KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221) OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783) GGCCGAAGGGGGAGTGGCGAT 0.572000 42 13 0 0 0.00244969 0 0 NLRP1 22861 broad.mit.edu 37 17 5418189 5418189 + Nonsense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr17:5418189C>T uc002gci.3 - 16 4862 c.4307G>A c.(4306-4308)tGg>tAg p.W1436* NLRP1_uc002gcg.1_Intron|NLRP1_uc002gch.4_Nonsense_Mutation_p.W1392*|NLRP1_uc002gck.3_Nonsense_Mutation_p.W1392*|NLRP1_uc002gcj.3_Nonsense_Mutation_p.W1406*|NLRP1_uc002gcl.3_Nonsense_Mutation_p.W1362* NM_033004 NP_127497 Q9C000 NALP1_HUMAN Homo sapiens NLR family, pyrin domain containing 1 (NLRP1), transcript variant 1, mRNA. 1436 CARD. defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide NALP1 inflammasome complex|cytoplasm|nucleus ATP binding|caspase activator activity|enzyme binding|protein domain specific binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 Colorectal(1115;3.48e-05) CTTCCGGTCCCAGGACTGGCT 0.577000 5 135 0 0 0.00361006 0 0 TAS2R38 5726 broad.mit.edu 37 7 141673474 141673474 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr7:141673474G>A uc003vwx.1 - 0 100 c.16C>T c.(16-18)Cgc>Tgc p.R6C NM_176817 NP_789787 P59533 T2R38_HUMAN Homo sapiens taste receptor, type 2, member 38 (TAS2R38), mRNA. 6 sensory perception of taste integral to membrane G-protein coupled receptor activity NS(2)|breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)|stomach(1) 21 Melanoma(164;0.0171) GTGCGGATGCGAGTTAGAGTC 0.448000 99 18 0 0 0.00074312 0 0 MYT1L 23040 broad.mit.edu 37 2 1906908 1906908 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:1906908C>T uc002qxe.3 - 13 2803 c.1976G>A c.(1975-1977)cGa>cAa p.R659Q MYT1L_uc002qxd.3_Missense_Mutation_p.R657Q|MYT1L_uc010ewl.2_Non-coding_Transcript NM_015025 NP_055840 Q9UL68 MYT1L_HUMAN Homo sapiens myelin transcription factor 1-like (MYT1L), mRNA. 659 cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 97 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.037)|all_epithelial(98;0.241) OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244) AGCTATGGCTCGCTTGCCATA 0.488000 39 48 0 0 0.00361006 0 0 APOM 55937 broad.mit.edu 37 6 31625002 31625002 + Splice_Site SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr6:31625002G>A uc003nvl.3 + 3 343 c.270_splice c.e3-1 p.M90_splice APOM_uc003nvk.3_Splice_Site_p.M18_splice NM_019101 NP_061974 O95445 APOM_HUMAN Homo sapiens apolipoprotein M (APOM), transcript variant 1, mRNA. 90 cholesterol efflux|high-density lipoprotein particle assembly|high-density lipoprotein particle clearance|high-density lipoprotein particle remodeling|negative regulation of plasma lipoprotein particle oxidation|reverse cholesterol transport discoidal high-density lipoprotein particle|integral to plasma membrane|low-density lipoprotein particle|spherical high-density lipoprotein particle|very-low-density lipoprotein particle binding|lipid transporter activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(1) 7 ACCTCTGCAGGAAAGATGGGC 0.507000 181 115 0 0 0.00361006 0 0 IGHE 3497 broad.mit.edu 37 14 106067917 106067917 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr14:106067917C>T uc001yrw.1 - 1 203 c.191G>A c.(190-192)gGg>gAg p.G64E abParts_uc021ser.1_Non-coding_Transcript|DKFZp686O16217_uc001yrs.3_Intron|DKFZp686O16217_uc001yrt.3_Intron|IGHE_uc001yrx.2_Missense_Mutation_p.G11E|IGHE_uc001yru.2_5'Flank RecName: Full=Ig epsilon chain C region; CATAGTTGTCCCGTTGAGGGA 0.612000 57 17 0 0 0.000422831 0 0 ZNF324 25799 broad.mit.edu 37 19 58983383 58983383 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:58983383C>T uc002qsw.2 + 3 1669 c.1524C>T c.(1522-1524)acC>acT p.T508T NM_014347 NP_055162 O75467 Z324A_HUMAN Homo sapiens zinc finger protein 324 (ZNF324), mRNA. 508 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(2)|prostate(2)|urinary_tract(2) 16 all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179) GCGAGAAGACCGTCCGGCGAT 0.677000 56 11 0 0 0.000978159 0 0 FAM46B 115572 broad.mit.edu 37 1 27339028 27339028 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:27339028G>A uc010ofj.2 - 0 306 c.134C>T c.(133-135)cCc>cTc p.P45L BC016143_uc021ojq.1_Intron NM_052943 NP_443175 Q96A09 FA46B_HUMAN Homo sapiens family with sequence similarity 46, member B (FAM46B), mRNA. 45 breast(1)|central_nervous_system(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1) 10 all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;7.71e-51)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-29)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|STAD - Stomach adenocarcinoma(196;0.00114)|READ - Rectum adenocarcinoma(331;0.0419) GTGCCGTCCGGGGAAGGCCGA 0.731000 19 4 0 0 0.00024832 0 0 SIPA1L3 23094 broad.mit.edu 37 19 38655244 38655244 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:38655244C>T uc002ohk.3 + 14 4415 c.3906C>T c.(3904-3906)tcC>tcT p.S1302S NM_015073 NP_055888 O60292 SI1L3_HUMAN Homo sapiens signal-induced proliferation-associated 1 like 3 (SIPA1L3), mRNA. 1302 regulation of small GTPase mediated signal transduction intracellular GTPase activator activity NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3) 59 Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292) ACCCCCTCTCCAAGGGTGGCT 0.657000 17 8 0 0 0.00307968 0 0 TRPM4 54795 broad.mit.edu 37 19 49671183 49671183 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:49671183C>T uc002pmw.3 + 3 385 c.277C>T c.(277-279)Ctc>Ttc p.L93F TRPM4_uc010emu.3_Missense_Mutation_p.L93F|TRPM4_uc010yak.2_Intron|TRPM4_uc002pmx.3_Intron|TRPM4_uc010emv.3_Intron|TRPM4_uc010yal.2_Intron NM_017636 NP_060106 Q8TD43 TRPM4_HUMAN Homo sapiens transient receptor potential cation channel, subfamily M, member 4 (TRPM4), transcript variant 1, mRNA. 93 dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production Golgi apparatus|endoplasmic reticulum|integral to membrane|plasma membrane ATP binding|calcium activated cation channel activity|calmodulin binding breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 49 all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15) all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751) GTTCCTCCGGCTCTCTGACCG 0.637000 76 83 0 0 0.00361006 0 0 ZNF263 10127 broad.mit.edu 37 16 3339984 3339984 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr16:3339984C>T uc002cuq.3 + 5 1810 c.1478C>T c.(1477-1479)cCt>cTt p.P493L ZNF263_uc010uww.2_Missense_Mutation_p.P141L|ZNF263_uc002cur.2_Missense_Mutation_p.P141L NM_005741 NP_005732 O14978 ZN263_HUMAN Homo sapiens zinc finger protein 263 (ZNF263), mRNA. 493 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|skin(4)|urinary_tract(3) 20 TACAAGTGCCCTGAGTGTGGG 0.522000 27 7 0 0 0.00307968 0 0 AKAP9 10142 broad.mit.edu 37 7 91714954 91714954 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr7:91714954C>T uc003ulg.3 + 35 9203 c.8978C>T c.(8977-8979)tCt>tTt p.S2993F AKAP9_uc003ulf.3_Missense_Mutation_p.S2985F|AKAP9_uc003uli.3_Missense_Mutation_p.S2616F|AKAP9_uc003ulj.3_Missense_Mutation_p.S763F|AKAP9_uc003ulk.3_Missense_Mutation_p.S268F NM_005751 NP_005742 Q99996 AKAP9_HUMAN Homo sapiens A kinase (PRKA) anchor protein (yotiao) 9 (AKAP9), transcript variant 2, mRNA. 2997 G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport Golgi apparatus|centrosome|cytosol receptor binding NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2) 155 all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249) STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) ACAATCTCATCTCTAAAGGAT 0.353000 T BRAF papillary thyroid 41 23 0 0 0.00332997 0 0 KIR2DL5B 553128 broad.mit.edu 37 GL000209.1 95735 95735 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chrGL000209.1:95735G>A uc002quk.1 + 7 1176 c.1121G>A c.(1120-1122)gGa>gAa p.G374E KIR2DL2_uc002qtt.2_Intron|KIR2DL2_uc002qty.3_Intron|KIR2DL2_uc021vdb.1_Intron|KIR2DL2_uc010yie.2_Intron|KIR2DL2_uc002qul.2_5'Flank NM_001018081 NP_001018091 Q8NHK4 Q8NHK4_HUMAN Homo sapiens killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 5B (KIR2DL5B), mRNA. 374 receptor activity CCAGCAGCTGGAATCTGAAGG 0.517000 31 19 0 0 0.00074312 0 0 IFIH1 64135 broad.mit.edu 37 2 163139026 163139026 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:163139026G>A uc002uce.3 - 5 1378 c.1156C>T c.(1156-1158)Cgt>Tgt p.R386C NM_022168 NP_071451 Q9BYX4 IFIH1_HUMAN Homo sapiens interferon induced with helicase C domain 1 (IFIH1), mRNA. 386 Helicase ATP-binding. detection of virus|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|regulation of apoptosis cytosol|nucleus ATP binding|DNA binding|double-stranded RNA binding|helicase activity|protein binding|ribonucleoprotein binding|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1) 39 CCAATAACACGATACCATTTC 0.338000 25 20 0 0 0.00121646 0 0 IBA57 200205 broad.mit.edu 37 1 228362887 228362887 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:228362887C>T uc001hsl.4 + 2 833 c.744C>T c.(742-744)gcC>gcT p.A248A IBA57_uc010pvw.2_Silent_p.A55A NM_001010867 NP_001010867 Q5T440 CAF17_HUMAN Homo sapiens IBA57, iron-sulfur cluster assembly homolog (S. cerevisiae) (IBA57), mRNA. 248 glycine catabolic process|heme biosynthetic process mitochondrion aminomethyltransferase activity central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|prostate(1) 11 CCAACCTGGCCTTCATGAACG 0.642000 78 24 0 0 0.000878237 0 0 RYR3 6263 broad.mit.edu 37 15 34130518 34130518 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr15:34130518G>A uc001zhi.3 + 88 12407 c.12337G>A c.(12337-12339)Gag>Aag p.E4113K RYR3_uc010bar.3_Missense_Mutation_p.E4108K NM_001036 NP_001027 Q15413 RYR3_HUMAN Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA. 4113 cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3) 311 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) CAGGCCAGAAGAGGAGGAAGA 0.473000 83 92 0 0 0.00361006 0 0 PLD5 200150 broad.mit.edu 37 1 242271141 242271141 + Splice_Site SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:242271141C>T uc001hzn.2 - 9 1298 c.1071_splice c.e9-1 p.R357_splice PLD5_uc021pll.1_Splice_Site_p.R265_splice|PLD5_uc001hzl.4_Splice_Site_p.R295_splice|PLD5_uc001hzm.4_Splice_Site_p.R149_splice|PLD5_uc001hzo.2_Splice_Site_p.R265_splice NM_152666 NP_001182741 Q8N7P1 PLD5_HUMAN Homo sapiens phospholipase D family, member 5 (PLD5), transcript variant 1, mRNA. 357 integral to membrane catalytic activity breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(22)|ovary(6)|skin(3)|urinary_tract(1) 55 Melanoma(84;0.242) OV - Ovarian serous cystadenocarcinoma(106;0.0329) GCCAGTAAGTCCTGCAGAAAT 0.353000 43 63 0 0 0.00361006 0 0 LEPR 3953 broad.mit.edu 37 1 66036256 66036256 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:66036256C>T uc001dci.3 + 3 530 c.141C>T c.(139-141)ttC>ttT p.F47F LEPR_uc001dcg.3_Silent_p.F47F|LEPR_uc001dch.3_Silent_p.F47F|LEPR_uc009waq.3_Silent_p.F47F|LEPR_uc021ool.1_Silent_p.F47F|LEPR_uc001dcj.3_Silent_p.F47F|LEPR_uc001dck.3_Silent_p.F47F NM_002303 NP_002294 P48357 LEPR_HUMAN Homo sapiens leptin receptor (LEPR), transcript variant 1, mRNA. 47 energy reserve metabolic process|multicellular organismal development extracellular region|integral to membrane|plasma membrane cytokine receptor activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2) 36 OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094) ATGACTACTTCCTTTTGCCTG 0.353000 45 87 0 0 0.00361006 0 0 NOD2 64127 broad.mit.edu 37 16 50753891 50753891 + Nonsense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr16:50753891C>T uc002egm.1 + 6 2791 c.2686C>T c.(2686-2688)Cga>Tga p.R896* NOD2_uc010cbl.1_Nonsense_Mutation_p.R646*|NOD2_uc010cbm.1_Intron|NOD2_uc010cbn.1_Non-coding_Transcript|NOD2_uc010cbo.1_Intron|NOD2_uc010cbp.1_Intron|NOD2_uc010cbq.1_Nonsense_Mutation_p.R34*|NOD2_uc010cbr.1_Non-coding_Transcript|NOD2_uc010vgq.1_5'UTR NM_022162 NP_071445 Q9HC29 NOD2_HUMAN Homo sapiens nucleotide-binding oligomerization domain containing 2 (NOD2), mRNA. 896 JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of ERK1 and ERK2 cascade|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of Notch signaling pathway|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of gamma-delta T cell activation|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cell surface|cytosol|plasma membrane|vesicle ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3) 52 all_cancers(37;0.0156) CGAGGGGCTCCGAGGCAACAC 0.597000 41 70 0 0 0.00361006 0 0 TSSK1B 83942 broad.mit.edu 37 5 112769639 112769639 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr5:112769639G>A uc003kqm.2 - 0 1090 c.898C>T c.(898-900)Ccc>Tcc p.P300S MCC_uc003kql.4_Intron NM_032028 NP_114417 Q9BXA7 TSSK1_HUMAN Homo sapiens testis-specific serine kinase 1B (TSSK1B), mRNA. 300 cell differentiation|multicellular organismal development|spermatogenesis ATP binding|magnesium ion binding|protein serine/threonine kinase activity large_intestine(8)|ovary(2)|skin(2)|stomach(1) 13 all_cancers(142;0.0138)|all_epithelial(76;0.000445)|Colorectal(10;0.00814)|Prostate(80;0.0115)|Ovarian(225;0.156) Epithelial(69;4.15e-08)|OV - Ovarian serous cystadenocarcinoma(64;4.49e-08)|all cancers(49;3.2e-06)|COAD - Colon adenocarcinoma(37;0.0371)|Colorectal(14;0.0449) CCAGGTTCGGGGGTCCACAAG 0.622000 23 11 0 0 0.000673444 0 0 OR5D16 390144 broad.mit.edu 37 11 55606570 55606570 + Missense_Mutation SNP A T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr11:55606570A>T uc010rio.2 + 0 343 c.343A>T c.(343-345)Att>Ttt p.I115F NM_001005496 NP_001005496 Q8NGK9 OR5DG_HUMAN Homo sapiens olfactory receptor, family 5, subfamily D, member 16 (OR5D16), mRNA. 115 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.I115F(2) cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 44 all_epithelial(135;0.208) GACTGAATTAATTCTATTTGC 0.438000 90 63 0 0 0.00361006 0 0 GLIS3 169792 broad.mit.edu 37 9 4286371 4286371 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr9:4286371C>T uc003zhx.1 - 1 768 c.55G>A c.(55-57)Ggg>Agg p.G19R GLIS3_uc003zic.1_Missense_Mutation_p.G19R|GLIS3_uc003zie.1_Missense_Mutation_p.G19R|GLIS3_uc010mhh.1_Intron|GLIS3_uc003zid.1_5'UTR|GLIS3_uc010mhi.1_Intron|GLIS3_uc003zif.1_5'UTR|GLIS3_uc003zih.1_Intron|GLIS3_uc003zig.1_Intron|GLIS3_uc003zii.1_Missense_Mutation_p.G19R NM_001042413 NP_001035878 Q8NEA6 GLIS3_HUMAN Homo sapiens GLIS family zinc finger 3 (GLIS3), transcript variant 1, mRNA. 0 negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter DNA binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1) 26 Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148) Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148) ATCCTAGGCCCCTGTGGGGTT 0.562000 2 34 0 0 0.0024448 0 0 PLEKHM1P 440456 broad.mit.edu 37 17 62788625 62788625 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr17:62788625G>A uc002jew.4 - 7 2015 c.1104C>T c.(1102-1104)atC>atT p.I368I PLEKHM1P_uc002jev.3_Non-coding_Transcript Homo sapiens pleckstrin homology domain containing, family M (with RUN domain) member 1 pseudogene (PLEKHM1P), non-coding RNA. GCTGGGCCCGGATCTGCGTCA 0.607000 37 47 0 0 0.00361006 0 0 GANC 2595 broad.mit.edu 37 15 42566701 42566701 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr15:42566701G>A uc001zpi.3 + 0 336 c.22G>A c.(22-24)Gaa>Aaa p.E8K GANC_uc001zph.3_Missense_Mutation_p.E8K|TMEM87A_uc021sjr.1_5'Flank|TMEM87A_uc001zpf.4_5'Flank|TMEM87A_uc010bcu.1_5'Flank|TMEM87A_uc001zpg.2_5'Flank|GANC_uc010ude.1_Missense_Mutation_p.E8K NM_198141 NP_937784 Q8TET4 GANC_HUMAN Homo sapiens glucosidase, alpha; neutral C (GANC), mRNA. 8 carbohydrate metabolic process carbohydrate binding|maltose alpha-glucosidase activity breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 all_cancers(109;3.08e-16)|all_epithelial(112;7.48e-15)|Lung NSC(122;3.08e-09)|all_lung(180;1.48e-08)|Melanoma(134;0.0574)|Colorectal(260;0.153) GBM - Glioblastoma multiforme(94;1.06e-06) AGTGAAAGAGGAAATAAGGTA 0.483000 13 15 0 0 0.000958276 0 0 ADAMTS10 81794 broad.mit.edu 37 19 8645836 8645836 + Nonsense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:8645836G>A uc002mkj.1 - 25 3527 c.3253C>T c.(3253-3255)Cag>Tag p.Q1085* ADAMTS10_uc002mki.1_Nonsense_Mutation_p.Q572* NM_030957 NP_112219 Q9H324 ATS10_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 10 (ADAMTS10), mRNA. 1085 PLAC. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1) 53 CTGCAGAACTGAAATTTGAGC 0.627000 OREG0025220 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 12 5 0 0 0.000602214 0 0 KCNB2 9312 broad.mit.edu 37 8 73848625 73848625 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr8:73848625G>A uc003xzb.3 + 2 1623 c.1035G>A c.(1033-1035)ggG>ggA p.G345G NM_004770 NP_004761 Q92953 KCNB2_HUMAN Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 2 (KCNB2), mRNA. 345 regulation of smooth muscle contraction voltage-gated potassium channel complex delayed rectifier potassium channel activity|protein binding 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) TGGCCATGGGGATAATGATAT 0.473000 71 39 0 0 0.00285205 0 0 PIP5K1C 23396 broad.mit.edu 37 19 3643366 3643366 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:3643366G>A uc002lyj.2 - 12 1613 c.1524C>T c.(1522-1524)ctC>ctT p.L508L PIP5K1C_uc010xhq.2_Silent_p.L508L|PIP5K1C_uc010xhr.2_Silent_p.L508L NM_012398 NP_036530 O60331 PI51C_HUMAN Homo sapiens phosphatidylinositol-4-phosphate 5-kinase, type I, gamma (PIP5K1C), transcript variant 2, mRNA. 508 axon guidance cytosol|plasma membrane 1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding large_intestine(3)|ovary(1)|skin(3)|stomach(2) 9 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.95e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0026)|STAD - Stomach adenocarcinoma(1328;0.183) TGCAGGGCAGGAGGTCGGGCC 0.637000 83 41 0 0 0.00285205 0 0 UBASH3A 53347 broad.mit.edu 37 21 43852251 43852252 + Missense_Mutation DNP GG AA AA rs151042130 TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr21:43852251_43852252GG>AA uc002zbe.3 + 8 1294_1295 c.1210_1211GG>AA c.(1210-1212)ggg>AAg p.G404K UBASH3A_uc002zbf.3_Missense_Mutation_p.G366K|UBASH3A_uc010gpe.3_Missense_Mutation_p.G366K|UBASH3A_uc010gpc.3_Non-coding_Transcript|UBASH3A_uc010gpd.3_Non-coding_Transcript NM_018961 NP_061834 P57075 UBS3A_HUMAN Homo sapiens ubiquitin associated and SH3 domain containing A (UBASH3A), transcript variant 1, mRNA. 404 Phosphatase-like. cytosol|nucleus breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(9)|lung(12)|ovary(3) 28 GGTTCGCCACGGGGAGAGAGTG 0.569000 15 5 0 0 6.4e-05 0 0 EML5 161436 broad.mit.edu 37 14 89181355 89181355 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr14:89181355C>T uc021ryf.1 - 8 1621 c.1372G>A c.(1372-1374)Gac>Aac p.D458N EML5_uc021ryg.1_Missense_Mutation_p.D458N|EML5_uc001xxh.1_5'UTR NM_183387 NP_899243 Q05BV3 EMAL5_HUMAN Homo sapiens echinoderm microtubule associated protein like 5 (EML5), mRNA. 458 cytoplasm|microtubule breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 50 GAAGACCAGTCCAGATGAGTG 0.373000 41 24 0 0 0.00395357 0 0 ABCA3 21 broad.mit.edu 37 16 2331154 2331154 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr16:2331154G>A uc002cpy.1 - 27 4945 c.4233C>T c.(4231-4233)tgC>tgT p.C1411C ABCA3_uc010bsk.1_Silent_p.C1353C NM_001089 NP_001080 Q99758 ABCA3_HUMAN Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 3 (ABCA3), mRNA. 1411 ABC transporter 2. response to drug integral to membrane|lamellar body|membrane fraction|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1) 70 Ovarian(90;0.17) GCAGGCCGAAGCACTCCCCTT 0.627000 41 16 0 0 0.000422831 0 0 CHD6 84181 broad.mit.edu 37 20 40042110 40042110 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr20:40042110G>A uc002xka.1 - 34 7163 c.6985C>T c.(6985-6987)Cct>Tct p.P2329S CHD6_uc002xjz.1_5'UTR NM_032221 NP_115597 Q8TD26 CHD6_HUMAN Homo sapiens chromodomain helicase DNA binding protein 6 (CHD6), mRNA. 2329 chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ATP binding|ATP-dependent helicase activity|DNA binding|chromatin binding breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9) 129 Myeloproliferative disorder(115;0.00425) GGCCCCTCAGGGTGTGTGGTG 0.547000 12 13 0 0 0.00185496 0 0 DBF4 10926 broad.mit.edu 37 7 87537294 87537295 + Missense_Mutation DNP CG AT AT TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr7:87537294_87537295CG>AT uc003ujf.1 + 11 2345_2346 c.1841_1842CG>AT c.(1840-1842)ccg>cAT p.P614H DBF4_uc003ujh.1_Missense_Mutation_p.P354H|DBF4_uc003ujg.1_Missense_Mutation_p.P390H|DBF4_uc011khf.1_Missense_Mutation_p.P381H NM_006716 NP_006707 Q9UBU7 DBF4A_HUMAN Homo sapiens DBF4 homolog (S. cerevisiae) (DBF4), mRNA. 614 DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|cell cycle checkpoint nucleoplasm enzyme activator activity|nucleic acid binding|protein binding|zinc ion binding endometrium(4)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|skin(3) 28 Esophageal squamous(14;0.00202) Breast(660;0.0334) TGTAGTTCACCGGTACAGTCTT 0.322000 129 6 0 0 6.4e-05 0 0 PABPC1 26986 broad.mit.edu 37 8 101733795 101733795 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr8:101733795G>A uc003yjs.1 - 0 521 c.17C>T c.(16-18)cCc>cTc p.P6L PABPC1_uc011lhc.1_Missense_Mutation_p.P6L|PABPC1_uc011lhd.1_Intron|PABPC1_uc003yjt.1_Missense_Mutation_p.P6L|PABPC1_uc003yju.2_Non-coding_Transcript NM_002568 NP_002559 P11940 PABP1_HUMAN Homo sapiens poly(A) binding protein, cytoplasmic 1 (PABPC1), mRNA. 6 mRNA polyadenylation|mRNA stabilization|negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|translation catalytic step 2 spliceosome|cytosol nucleotide binding|poly(A) RNA binding|protein C-terminus binding|translation activator activity breast(2)|endometrium(4)|kidney(15)|large_intestine(4)|lung(13)|prostate(1)|skin(1) 40 all_cancers(14;6.8e-05)|all_epithelial(15;3.16e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125) Epithelial(11;6.37e-11)|all cancers(13;1.11e-08)|OV - Ovarian serous cystadenocarcinoma(57;3.91e-05)|STAD - Stomach adenocarcinoma(118;0.206) GGGGTAGCTGGGGGCACTGGG 0.711000 11 19 0 0 0.00188189 0 0 TCHH 7062 broad.mit.edu 37 1 152080064 152080064 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:152080064C>T uc009wne.1 - 2 5901 c.5629G>A c.(5629-5631)Gaa>Aaa p.E1877K TCHH_uc001ezp.2_Missense_Mutation_p.E1877K NM_007113 NP_009044 Q07283 TRHY_HUMAN Homo sapiens trichohyalin (TCHH), mRNA. 1877 23 X 26 AA approximate tandem repeats. keratinization cytoskeleton calcium ion binding p.R1876L(1) NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4) 105 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) AATTTCCTTTCCCGTTCCTGG 0.567000 71 32 0 0 0.00375469 0 0 SGCA 6442 broad.mit.edu 37 17 48245361 48245361 + Silent SNP G A A rs147739328 byFrequency TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr17:48245361G>A uc002iqi.3 + 3 402 c.366G>A c.(364-366)ctG>ctA p.L122L SGCA_uc010wmh.1_Silent_p.L20L|SGCA_uc002iqj.3_Silent_p.L122L|SGCA_uc010wmi.2_Non-coding_Transcript NM_000023 NP_000014 Q16586 SGCA_HUMAN Homo sapiens sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein) (SGCA), transcript variant 1, mRNA. 122 muscle contraction|muscle organ development cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma calcium ion binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(7)|ovary(2)|skin(1) 14 GGCTGGTGCTGGAGATTGGGG 0.592000 29 46 0 0 0.00361006 0 0 THSD7B 80731 broad.mit.edu 37 2 138414689 138414689 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:138414689G>A uc002tva.1 + 22 4244 c.4244G>A c.(4243-4245)cGa>cAa p.R1415Q THSD7B_uc010zbj.1_Non-coding_Transcript NM_001080427 NP_001073896 Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA. NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 134 BRCA - Breast invasive adenocarcinoma(221;0.19) AATAACGAACGAACTGTATGG 0.413000 33 29 0 0 0.001512 0 0 SLC27A5 10998 broad.mit.edu 37 19 59010865 59010865 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:59010865G>A uc002qtc.2 - 6 1771 c.1661C>T c.(1660-1662)aCc>aTc p.T554I SLC27A5_uc002qtb.3_5'Flank NM_012254 NP_036386 Q9Y2P5 S27A5_HUMAN Homo sapiens solute carrier family 27 (fatty acid transporter), member 5 (SLC27A5), mRNA. 554 bile acid and bile salt transport|bile acid biosynthetic process|very long-chain fatty acid metabolic process endoplasmic reticulum membrane|integral to membrane ATP binding|cholate-CoA ligase activity|long-chain fatty acid-CoA ligase activity p.T554I(2) central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1) 19 all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.181) GGACCGGAAGGTGTCCCCGAG 0.657000 58 18 0 0 0.00121646 0 0 FAM83B 222584 broad.mit.edu 37 6 54805566 54805567 + Missense_Mutation DNP CC TT TT TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr6:54805566_54805567CC>TT uc003pck.3 + 4 1913_1914 c.1797_1798CC>TT c.(1795-1800)atcccc>atTTcc p.P600S NM_001010872 NP_001010872 Q5T0W9 FA83B_HUMAN Homo sapiens family with sequence similarity 83, member B (FAM83B), mRNA. 600 autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1) 71 Lung NSC(77;0.0178)|Renal(3;0.122) CAGAATCAATCCCCAAGCTCCC 0.470000 30 29 0 0 6.4e-05 0 0 CA7 766 broad.mit.edu 37 16 66885423 66885423 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr16:66885423G>A uc002eqi.3 + 3 524 c.415G>A c.(415-417)Gca>Aca p.A139T AF086125_uc002eqh.3_Intron|CA7_uc002eqj.3_Missense_Mutation_p.A83T NM_005182 NP_001014435 P43166 CAH7_HUMAN Homo sapiens carbonic anhydrase VII (CA7), transcript variant 1, mRNA. 139 one-carbon metabolic process cytoplasm carbonate dehydratase activity|zinc ion binding kidney(1)|large_intestine(1)|lung(4) 6 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.088)|Epithelial(162;0.204) GGCGGCCTCAGCACCTGATGG 0.587000 67 123 0 0 0.00361006 0 0 SIGLEC6 946 broad.mit.edu 37 19 52034212 52034212 + Splice_Site SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:52034212G>A uc002pwy.3 - 3 636 c.428_splice c.e3-1 p.A143_splice SIGLEC6_uc002pwz.3_Splice_Site_p.A143_splice|SIGLEC6_uc010ydb.2_Splice_Site_p.A107_splice|SIGLEC6_uc010ydc.2_Splice_Site_p.A143_splice|SIGLEC6_uc002pxa.3_Splice_Site_p.A143_splice|SIGLEC6_uc010eoz.2_Intron|SIGLEC6_uc010epa.2_Splice_Site_p.A132_splice|SIGLEC6_uc010epb.2_Splice_Site_p.A96_splice NM_001245 NP_001236 O43699 SIGL6_HUMAN Homo sapiens sialic acid binding Ig-like lectin 6 (SIGLEC6), transcript variant 1, mRNA. 143 cell adhesion|cell-cell signaling cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1) 28 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165) TGTGGGTCAGGGCTGGTGAGG 0.622000 49 49 0 0 0.00361006 0 0 STX1B 112755 broad.mit.edu 37 16 31004166 31004166 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr16:31004166G>A uc010cad.2 - 9 955 c.843C>T c.(841-843)tcC>tcT p.S281S NM_052874 NP_443106 P61266 STX1B_HUMAN Homo sapiens syntaxin 1B (STX1B), mRNA. 281 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 TCCCCCCAATGGATGACGCCA 0.577000 42 15 0 0 0.000958276 0 0 SBSN 374897 broad.mit.edu 37 19 36018747 36018747 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:36018747C>T uc002oad.2 - 0 507 c.437G>A c.(436-438)gGa>gAa p.G146E SBSN_uc002oae.2_Intron|SBSN_uc021usp.1_Intron NM_001166034 NP_001159506 Q6UWP8 SBSN_HUMAN Homo sapiens suprabasin (SBSN), transcript variant 1, mRNA. 145 Ala/Gly/His-rich. extracellular region p.G145V(2) large_intestine(5)|lung(6)|ovary(1)|prostate(2) 14 all_lung(56;1.62e-08)|Lung NSC(56;2.47e-08)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0724) TGCCTCACTTCCCGCCTGGTT 0.607000 30 29 0 0 0.00127121 0 0 ZC3H18 124245 broad.mit.edu 37 16 88688784 88688784 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr16:88688784C>T uc010voz.2 + 9 1927 c.1727C>T c.(1726-1728)tCt>tTt p.S576F ZC3H18_uc002fky.3_Missense_Mutation_p.S552F|ZC3H18_uc010chw.3_Non-coding_Transcript NM_144604 NP_653205 Q86VM9 ZCH18_HUMAN Homo sapiens zinc finger CCCH-type containing 18 (ZC3H18), mRNA. 552 Ser-rich. nucleus nucleic acid binding|zinc ion binding endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 42 BRCA - Breast invasive adenocarcinoma(80;0.0542) GCCTCTGCCTCTAATTCCTCC 0.617000 10 8 0 0 0.00307968 0 0 ST18 9705 broad.mit.edu 37 8 53044633 53044633 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr8:53044633G>A uc003xqz.2 - 16 2707 c.2551C>T c.(2551-2553)Cct>Tct p.P851S ST18_uc011ldq.1_Missense_Mutation_p.P498S|ST18_uc011ldr.1_Missense_Mutation_p.P816S|ST18_uc011lds.1_Missense_Mutation_p.P756S|ST18_uc003xra.2_Missense_Mutation_p.P851S NM_014682 NP_055497 O60284 ST18_HUMAN Homo sapiens suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein) (ST18), mRNA. 851 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 85 Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229) CCATTGAGAGGATTCTCCTTC 0.498000 38 25 0 0 0.000720815 0 0 MBNL1 4154 broad.mit.edu 37 3 152150596 152150596 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr3:152150596C>T uc003ezm.3 + 2 1225 c.436C>T c.(436-438)Ccg>Tcg p.P146S MBNL1_uc003ezh.3_Missense_Mutation_p.P146S|MBNL1_uc003ezi.3_Missense_Mutation_p.P146S|MBNL1_uc003ezj.3_Missense_Mutation_p.P89S|MBNL1_uc003ezl.3_Missense_Mutation_p.P146S|MBNL1_uc003ezp.3_Missense_Mutation_p.P146S|MBNL1_uc003ezn.3_Intron|MBNL1_uc003ezo.3_Intron|MBNL1_uc010hvp.3_Missense_Mutation_p.P54S NM_207293 NP_997176 Q9NR56 MBNL1_HUMAN Homo sapiens muscleblind-like (Drosophila) (MBNL1), transcript variant 3, mRNA. 146 embryonic limb morphogenesis|in utero embryonic development|myoblast differentiation|nervous system development nucleus|stress granule double-stranded RNA binding|protein binding|zinc ion binding endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813) AAGCCTGGTCCCGGCAGAGAT 0.517000 132 111 0 0 0.00361006 0 0 FAAH 2166 broad.mit.edu 37 1 46876082 46876082 + Silent SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:46876082C>T uc001cpu.2 + 9 1270 c.1188C>T c.(1186-1188)ttC>ttT p.F396F FAAH_uc001cpv.2_Non-coding_Transcript NM_001441 NP_001432 O00519 FAAH1_HUMAN Homo sapiens fatty acid amide hydrolase (FAAH), mRNA. 396 fatty acid catabolic process cytoplasm|cytoskeleton|endomembrane system|integral to membrane|organelle membrane carbon-nitrogen ligase activity, with glutamine as amido-N-donor|fatty acid amide hydrolase activity p.F396F(2) breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1) 22 Acute lymphoblastic leukemia(166;0.155) Propofol(DB00818)|Thiopental(DB00599) AAGGTGATTTCGTGGACCCCT 0.572000 260 67 0 0 0.00361006 0 0 ZNF585A 199704 broad.mit.edu 37 19 37643784 37643785 + Missense_Mutation DNP GG AA AA TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:37643784_37643785GG>AA uc002ofo.1 - 4 1247_1248 c.1016_1017CC>TT c.(1015-1017)tcc>tTT p.S339F ZNF585A_uc002ofm.1_Missense_Mutation_p.S284F|ZNF585A_uc002ofn.1_Missense_Mutation_p.S284F NM_199126 NP_954577 Q6P3V2 Z585A_HUMAN Homo sapiens zinc finger protein 585A (ZNF585A), transcript variant 2, mRNA. 339 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding breast(4)|central_nervous_system(1)|endometrium(2)|large_intestine(17)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 42 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) TAACGAGGTTGGAATTATTGCT 0.401000 56 28 0 0 6.4e-05 0 0 AFAP1L2 84632 broad.mit.edu 37 10 116067573 116067573 + Missense_Mutation SNP C T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr10:116067573C>T uc001lbn.3 - 9 1364 c.1063G>A c.(1063-1065)Gag>Aag p.E355K AFAP1L2_uc001lbo.3_Missense_Mutation_p.E355K|AFAP1L2_uc010qse.2_Missense_Mutation_p.E408K|AFAP1L2_uc001lbp.3_Missense_Mutation_p.E383K|AFAP1L2_uc001lbr.1_Missense_Mutation_p.E355K|AFAP1L2_uc010qsd.2_5'Flank NM_001001936 NP_001001936 Q8N4X5 AF1L2_HUMAN Homo sapiens actin filament associated protein 1-like 2 (AFAP1L2), transcript variant 1, mRNA. 355 PH 2. inflammatory response|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of transcription, DNA-dependent|regulation of interleukin-6 production|regulation of mitotic cell cycle cytoplasm SH2 domain binding|SH3 domain binding|protein tyrosine kinase activator activity breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|prostate(2) 21 Colorectal(252;0.175)|Breast(234;0.231) Epithelial(162;0.0219)|all cancers(201;0.0561) CTGGATGTCTCGAGGGACCTC 0.542000 8 28 0 0 0.0024448 0 0 ZCWPW1 55063 broad.mit.edu 37 7 100000181 100000181 + Missense_Mutation SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr7:100000181G>A uc003uut.3 - 15 1677 c.1429C>T c.(1429-1431)Cgt>Tgt p.R477C ZCWPW1_uc011kjq.2_Missense_Mutation_p.R357C|ZCWPW1_uc003uur.3_Intron|ZCWPW1_uc003uus.3_Missense_Mutation_p.R357C|ZCWPW1_uc011kjr.2_Intron|ZCWPW1_uc011kjp.2_Intron NM_017984 NP_060454 Q9H0M4 ZCPW1_HUMAN Homo sapiens zinc finger, CW type with PWWP domain 1 (ZCWPW1), mRNA. 477 zinc ion binding breast(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1) 16 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) ACTCGCTTACGAATGGGCAAA 0.433000 430 96 0 0 0.00361006 0 0 FSTL1 11167 broad.mit.edu 37 3 120123744 120123744 + Silent SNP G A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr3:120123744G>A uc003eds.3 - 6 712 c.537C>T c.(535-537)atC>atT p.I179I FSTL1_uc011bjh.2_Silent_p.I144I NM_007085 NP_009016 Q12841 FSTL1_HUMAN Homo sapiens follistatin-like 1 (FSTL1), mRNA. 179 BMP signaling pathway extracellular space calcium ion binding|heparin binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|skin(1) 20 GBM - Glioblastoma multiforme(114;0.189) TTGTAATATTGATGGCAGTTT 0.443000 120 63 0 0 0.00361006 0 0 ESPN 83715 broad.mit.edu 37 1 6500831 6500831 + Frame_Shift_Del DEL C - - TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:6500831delC uc001amy.3 + 3 989 c.821delC c.(820-822)accfs p.T274fs NM_031475 NP_113663 B1AK53 ESPN_HUMAN Homo sapiens espin (ESPN), mRNA. 274 sensory perception of sound brush border|cytoplasm|filamentous actin|stereocilium SH3 domain binding|actin filament binding NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1) 17 Ovarian(185;0.0386)|all_lung(157;0.154) all_cancers(23;3.6e-37)|all_epithelial(116;2.56e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|all_hematologic(16;6.92e-06)|Colorectal(325;4.47e-05)|Acute lymphoblastic leukemia(12;4.92e-05)|Breast(487;7.61e-05)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392) Epithelial(90;1.82e-35)|GBM - Glioblastoma multiforme(13;3e-28)|Kidney(185;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(229;5.63e-08)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;1.41e-05)|BRCA - Breast invasive adenocarcinoma(365;0.000109)|STAD - Stomach adenocarcinoma(132;0.00167)|Lung(427;0.0108)|LUSC - Lung squamous cell carcinoma(448;0.0253)|READ - Rectum adenocarcinoma(331;0.0419) TGGGGCGGGACCCCGCTGCAC 0.751 --- 4 --- --- 2 --- DNAJC11 55735 broad.mit.edu 37 1 6727803 6727804 + Frame_Shift_Del DEL TC - - TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:6727803_6727804delTC uc001aof.2 - 3 449_450 c.343_344delGA c.(343-345)gaafs p.E115fs DNAJC11_uc001aog.2_Frame_Shift_Del_p.E115fs|DNAJC11_uc010nzu.1_Frame_Shift_Del_p.E25fs NM_018198 NP_060668 Q9NVH1 DJC11_HUMAN Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 11 (DNAJC11), mRNA. 115 protein folding heat shock protein binding|unfolded protein binding NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)|urinary_tract(1) 32 Ovarian(185;0.0265)|all_lung(157;0.154) all_cancers(23;1.97e-27)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156) Colorectal(212;2.34e-07)|COAD - Colon adenocarcinoma(227;2.05e-05)|Kidney(185;7.67e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000639)|KIRC - Kidney renal clear cell carcinoma(229;0.00128)|STAD - Stomach adenocarcinoma(132;0.00179)|READ - Rectum adenocarcinoma(331;0.0649) TCTCCTCTCTTCTCTCTCTCTC 0.505 --- 61 --- --- 7 --- BEST4 266675 broad.mit.edu 37 1 45249992 45249992 + Frame_Shift_Del DEL G - - TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:45249992delG uc001cmm.3 - 8 1361 c.1312delC c.(1312-1314)cgcfs p.R438fs NM_153274 NP_695006 Q8NFU0 BEST4_HUMAN Homo sapiens bestrophin 4 (BEST4), mRNA. 438 chloride channel complex|plasma membrane chloride channel activity large_intestine(1)|lung(4)|ovary(1)|skin(1) 7 Acute lymphoblastic leukemia(166;0.155) TGCGGGGGGCGGGGGGTGCCT 0.776 --- 4 --- --- 2 --- CCDC18 343099 broad.mit.edu 37 1 93683360 93683371 + In_Frame_Del DEL AGCCTTTGAAAA - - TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:93683360_93683371delAGCCTTTGAAAA uc021opx.1 + 13 2057_2068 c.1896_1907delAGCCTTTGAAAA c.(1894-1908)ttagcctttgaaaaa>tta p.AFEK633del CCDC18_uc009wdl.1_Intron NM_206886 NP_996769 Q5T9S5 CCD18_HUMAN Homo sapiens coiled-coil domain containing 18 (CCDC18), mRNA. 632 breast(5)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 42 all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203) all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967) AAATTTGTTTAGCCTTTGAAAAAGCAAAGAAA 0.288 --- 124 --- --- 11 --- MIA3 375056 broad.mit.edu 37 1 222837459 222837459 + Frame_Shift_Del DEL T - - TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:222837459delT uc001hnl.3 + 26 5391 c.5382delT c.(5380-5382)cctfs p.P1794fs MIA3_uc001hnm.3_Frame_Shift_Del_p.P672fs NM_198551 NP_940953 Q5JRA6 MIA3_HUMAN Homo sapiens melanoma inhibitory activity family, member 3 (MIA3), mRNA. 1794 Pro-rich. exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing endoplasmic reticulum membrane|integral to membrane protein binding breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1) 80 GBM - Glioblastoma multiforme(131;0.0199) TCTGCGGACCTTTTGGGCCTC 0.537 --- 649 --- --- 7 --- POLQ 10721 broad.mit.edu 37 3 121207488 121207489 + Frame_Shift_Ins INS - A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr3:121207488_121207489insA uc003eee.4 - 15 4418_4419 c.4289_4290insT c.(4288-4290)ttafs p.L1430fs POLQ_uc003eed.3_Frame_Shift_Ins_p.L602fs NM_199420 NP_955452 O75417 DPOLQ_HUMAN Homo sapiens polymerase (DNA directed), theta (POLQ), mRNA. 1430 DNA repair|DNA replication nucleoplasm ATP binding|ATP-dependent helicase activity|DNA-directed DNA polymerase activity|damaged DNA binding|single-stranded DNA-dependent ATPase activity NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2) 120 GBM - Glioblastoma multiforme(114;0.0915) CATTCTTTTTTAAAAAAAGACC 0.342 DNA polymerases (catalytic subunits) --- 51 --- --- 8 --- SPOCK1 6695 broad.mit.edu 37 5 136448181 136448181 + Frame_Shift_Del DEL A - - TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr5:136448181delA uc003lbo.3 - 3 608 c.417delT c.(415-417)tgtfs p.C139fs SPOCK1_uc003lbp.3_Frame_Shift_Del_p.C139fs NM_004598 NP_004589 Q08629 TICN1_HUMAN Homo sapiens sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 1 (SPOCK1), mRNA. 139 Kazal-like. cell adhesion|cell proliferation|cellular component movement|nervous system development|signal transduction proteinaceous extracellular matrix calcium ion binding breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(4)|ovary(1)|pancreas(1)|stomach(1) 18 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) GTGCCACGGGACAGGGCTTGC 0.458 --- 45 --- --- 19 --- CDKN2A 1029 broad.mit.edu 37 9 21974715 21974732 + In_Frame_Del DEL GCAGCGCCCCCGCCTCCA - - TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr9:21974715_21974732delGCAGCGCCCCCGCCTCCA uc003zpk.3 - 0 401_418 c.95_112delTGGAGGCGGGGGCGCTGC c.(94-114)ctggaggcgggggcgctgccc>ccc p.LEAGAL32del MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.3_In_Frame_Del_p.LEAGAL32del|CDKN2A_uc010miu.3_In_Frame_Del_p.LEAGAL32del|CDKN2A_uc003zpl.3_Intron NM_000077 NP_000068 P42771 CD2A1_HUMAN Homo sapiens cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4) (CDKN2A), transcript variant 1, mRNA. 32 L -> P (in CMM2). G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|Ras protein signal transduction|cell cycle arrest|cell cycle checkpoint|induction of apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|replicative senescence cytosol|nucleus NF-kappaB binding|cyclin-dependent protein kinase inhibitor activity|protein binding|protein kinase binding p.0?(1315)|p.?(23)|p.L32_L37del(11)|p.G35E(6)|p.A36T(4)|p.L37L(4)|p.A34V(4)|p.V28_E33del(4)|p.E33*(4)|p.R29_A34del(4)|p.G35R(4)|p.E33D(2)|p.A34A(2)|p.E33fs*8(2)|p.L37fs*6(2)|p.A36fs*8(2)|p.L32R(2)|p.G35fs*13(2)|p.V28_V51del(2)|p.G35V(2)|p.L31P(1)|p.R29fs*9(1)|p.0(1)|p.A21_L32del(1)|p.P38fs*7(1) NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2) 4199 all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172) all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05) GGTGCGTTGGGCAGCGCCCCCGCCTCCAGCAGCGCCCG 0.711 17 HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07) --- 74 --- --- 90 --- PDZD7 79955 broad.mit.edu 37 10 102778804 102778804 + Frame_Shift_Del DEL C - - TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr10:102778804delC uc001ksn.3 - 7 1349 c.1099delG c.(1099-1101)gacfs p.D367fs PDZD7_uc021pxc.1_Frame_Shift_Del_p.D367fs|PDZD7_uc001kso.2_Frame_Shift_Del_p.D367fs NM_024895 NP_079171 Q9H5P4 PDZD7_HUMAN Homo sapiens PDZ domain containing 7 (PDZD7), transcript variant 2, mRNA. 367 cilium|nucleus protein binding breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 Epithelial(162;6.98e-09)|all cancers(201;3.55e-07) ATGGCTGTGTCCGCCCGCCCC 0.736 OREG0020453 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) --- 4 --- --- 2 --- KRTAP5-6 440023 broad.mit.edu 37 11 1718543 1718557 + In_Frame_Del DEL GCTGTGGGTCCAGCT - - TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr11:1718543_1718557delGCTGTGGGTCCAGCT uc001lua.3 + 0 119_133 c.68_82delGCTGTGGGTCCAGCT c.(67-84)ggctgtgggtccagctgc>ggc p.CGSSC24del MOB2_uc001ltq.2_Intron NM_001012416 NP_001012416 Q6L8G9 KRA56_HUMAN Homo sapiens keratin associated protein 5-6 (KRTAP5-6), mRNA. 24 keratin filament endometrium(1)|large_intestine(2)|lung(6)|skin(1) 10 all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082) GGCTGTGGGGGCTGTGGGTCCAGCTGCTGTGTGCC 0.656 --- 59 --- --- 24 --- CCNT1 904 broad.mit.edu 37 12 49087434 49087436 + In_Frame_Del DEL ATG - - TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr12:49087434_49087436delATG uc001rsd.4 - 8 1884_1886 c.1561_1563delCAT c.(1561-1563)catdel p.H521del CCNT1_uc009zkz.2_In_Frame_Del_p.H236del|CCNT1_uc021qxk.1_5'Flank NM_001240 NP_001231 O60563 CCNT1_HUMAN Homo sapiens cyclin T1 (CCNT1), mRNA. 521 His-rich. cell cycle|cell division|interspecies interaction between organisms|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction nucleoplasm DNA binding|protein kinase binding breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|skin(2) 27 AGTGGTGATTATGATGATGATGA 0.443 --- 485 --- --- 7 --- SACS 26278 broad.mit.edu 37 13 23908923 23908941 + Frame_Shift_Del DEL AGTAAATTGTCAAAAAATG - - rs144616826 TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr13:23908923_23908941delAGTAAATTGTCAAAAAATG uc001uon.2 - 9 9663_9681 c.9074_9092delCATTTTTTGACAATTTACT c.(9073-9093)ccattttttgacaatttactafs p.P3025fs SACS_uc001uoo.2_Frame_Shift_Del_p.P2878fs|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron NM_014363 NP_055178 Q9NZJ4 SACS_HUMAN Homo sapiens spastic ataxia of Charlevoix-Saguenay (sacsin) (SACS), mRNA. 3025 cell death|negative regulation of inclusion body assembly|protein folding axon|cell body fiber|dendrite|mitochondrion|nucleus ATP binding|Hsp70 protein binding|chaperone binding|proteasome binding NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11) 189 all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128) all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189) TTCATCCTGTAGTAAATTGTCAAAAAATGGTCTAGTTTT 0.352 --- 61 --- --- 14 --- HSPH1 10808 broad.mit.edu 37 13 31715381 31715382 + Frame_Shift_Ins INS - T T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr13:31715381_31715382insT uc001utl.3 - 12 2008_2009 c.1737_1738insA c.(1735-1740)aaagttfs p.K579fs HSPH1_uc001utj.3_Frame_Shift_Ins_p.K577fs|HSPH1_uc001utk.3_Frame_Shift_Ins_p.K533fs|HSPH1_uc010aaw.3_Frame_Shift_Ins_p.K536fs|HSPH1_uc010tds.2_Frame_Shift_Ins_p.K501fs NM_006644 NP_006635 Q92598 HS105_HUMAN Homo sapiens heat shock 105kDa/110kDa protein 1 (HSPH1), mRNA. 577 positive regulation of MHC class I biosynthetic process|positive regulation of NK T cell activation|response to unfolded protein cytoplasm|extracellular region ATP binding breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 27 Lung SC(185;0.0257) all cancers(112;0.00385)|Epithelial(112;0.0328)|OV - Ovarian serous cystadenocarcinoma(117;0.0375)|GBM - Glioblastoma multiforme(144;0.125) GGCTGGTCAACTTTTTTTTCAT 0.376 --- 118 --- --- 7 --- SPRYD7 57213 broad.mit.edu 37 13 50502187 50502187 + Frame_Shift_Del DEL A - - TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr13:50502187delA uc001vdl.2 - 2 512 c.258delT c.(256-258)gttfs p.V86fs SPRYD7_uc001vdm.2_Frame_Shift_Del_p.V47fs|SPRYD7_uc010tgm.1_Intron|SPRYD7_uc010adj.3_Frame_Shift_Del_p.V86fs NM_020456 NP_065189 Q5W111 SPRY7_HUMAN Homo sapiens SPRY domain containing 7 (SPRYD7), transcript variant 1, mRNA. 86 B30.2/SPRY. haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2) 6 GATTCAAGTTAACCTTCTGAG 0.393 --- 43 --- --- 10 --- TCL6 27004 broad.mit.edu 37 14 96129844 96129844 + RNA DEL C - - TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr14:96129844delC uc001yep.1 + 5 c.1382delC TCL6_uc021sbf.1_Non-coding_Transcript|TCL6_uc021sbg.1_Intron|TCL6_uc021sbh.1_Non-coding_Transcript|TCL6_uc001yet.1_Non-coding_Transcript|TCL6_uc001yeu.2_Non-coding_Transcript|TCL6_uc001yev.2_Non-coding_Transcript|TCL1B_uc021sbi.1_Non-coding_Transcript|TCL1B_uc001yew.3_Non-coding_Transcript|TCL1B_uc001yex.3_Non-coding_Transcript|TCL1B_uc010avj.3_Non-coding_Transcript Homo sapiens T-cell leukemia/lymphoma 6 (non-protein coding) (TCL6), non-coding RNA. large_intestine(1)|lung(7) 8 all_cancers(154;0.103) Epithelial(152;0.0655)|all cancers(159;0.149)|BRCA - Breast invasive adenocarcinoma(234;0.206)|COAD - Colon adenocarcinoma(157;0.207) aggtttcctgccccagtgctc 0.532 T TRA@ T-ALL --- 17 --- --- 8 --- DHX8 1659 broad.mit.edu 37 17 41584910 41584915 + In_Frame_Del DEL GAAACA - - TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr17:41584910_41584915delGAAACA uc002idu.1 + 13 2035_2040 c.1963_1968delGAAACA c.(1963-1968)gaaacadel p.ET655del DHX8_uc010wif.1_In_Frame_Del_p.ET564del|DHX8_uc010wig.2_In_Frame_Del_p.ET655del NM_004941 NP_004932 Q14562 DHX8_HUMAN Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 8 (DHX8), mRNA. 655 Helicase ATP-binding. catalytic step 2 spliceosome ATP binding|ATP-dependent RNA helicase activity|RNA binding|protein binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1) 42 Breast(137;0.00908) BRCA - Breast invasive adenocarcinoma(366;0.08) CACTAGCCCTGAAACAGTCATCAAGT 0.476 --- 18 --- --- 18 --- LPIN2 9663 broad.mit.edu 37 18 2939491 2939495 + Frame_Shift_Del DEL GGGAA - - TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr18:2939491_2939495delGGGAA uc002klo.3 - 5 1044_1048 c.805_809delTTCCC c.(805-810)ttcccafs p.F269fs NM_014646 NP_055461 Q92539 LPIN2_HUMAN Homo sapiens lipin 2 (LPIN2), mRNA. 269 fatty acid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|triglyceride biosynthetic process cytosol|endoplasmic reticulum membrane|nucleus phosphatidate phosphatase activity|transcription coactivator activity autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(1) 29 READ - Rectum adenocarcinoma(2;0.0419)|Colorectal(6;0.156) GGTGGACTCTGGGAATCCGCCCCAC 0.502 --- 13 --- --- 32 --- SBK2 646643 broad.mit.edu 37 19 56041414 56041415 + Frame_Shift_Del DEL CC - - TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:56041414_56041415delCC uc010ygc.2 - 3 747_748 c.732_733delGG c.(730-735)ctggacfs p.L244fs NM_001101401 NP_001094871 P0C263 SBK2_HUMAN Homo sapiens SH3-binding domain kinase family, member 2 (SBK2), mRNA. 244 Protein kinase. ATP binding|protein serine/threonine kinase activity endometrium(1)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 9 GCCCAGGCGTCCAGGGCGGGCT 0.752 --- 4 --- --- 2 --- INSM1 3642 broad.mit.edu 37 20 20350010 20350010 + Frame_Shift_Del DEL T - - TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr20:20350010delT uc002wrx.3 + 0 1246 c.1099delT c.(1099-1101)tacfs p.Y367fs NM_002196 NP_002187 Q01101 INSM1_HUMAN Homo sapiens insulinoma-associated 1 (INSM1), mRNA. 367 endocrine pancreas development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding liver(1)|lung(3)|ovary(1)|prostate(1) 6 READ - Rectum adenocarcinoma(2;0.0649) GGACGGGCTCTACGAGTGCCA 0.741 --- 4 --- --- 7 --- FRG1B 284802 broad.mit.edu 37 20 29628229 29628230 + Frame_Shift_Ins INS - A A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr20:29628229_29628230insA uc010ztl.1 + 2 173_174 c.141_142insA c.(139-144)gggaaafs p.G47fs FRG1B_uc002wvm.1_Non-coding_Transcript|FRG1B_uc010ztj.1_Non-coding_Transcript|FRG1B_uc010gdr.1_Non-coding_Transcript|FRG1B_uc010ztk.1_5'UTR Homo sapiens FSHD region gene 1 family, member B (FRG1B), non-coding RNA. endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 TCACTTAGGGGAAAATGGCTTT 0.351 --- 97 --- --- 9 --- NUDT11 55190 broad.mit.edu 37 X 51239296 51239309 + Translation_Start_Site DEL TCCTCGAGGCAGCC - - rs78182391 TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chrX:51239296_51239309delTCCTCGAGGCAGCC uc010njt.3 - 0 NM_018159 NP_060629 Q96G61 NUD11_HUMAN Homo sapiens nudix (nucleoside diphosphate linked moiety X)-type motif 11 (NUDT11), mRNA. cytoplasm diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding p.?(5) breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2) 9 Ovarian(276;0.236) TTGCACTTCATCCTCGAGGCAGCCTCCTCGAGGC 0.692 HNSCC(48;0.14) --- 5 --- --- 3 ---