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 GPR113 165082 broad.mit.edu 37 2 26532440 26532440 + Missense_Mutation SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr2:26532440C>T uc010yky.1 - 12 2997 c.2944G>A c.(2944-2946)Gaa>Aaa p.E982K GPR113_uc002rhb.1_Missense_Mutation_p.E654K|GPR113_uc010eyk.1_Missense_Mutation_p.E852K|GPR113_uc002rhc.1_Missense_Mutation_p.E654K|GPR113_uc002rhd.1_Non-coding_Transcript NM_001145169 NP_001138641 Q8IZF5 GP113_HUMAN Homo sapiens G protein-coupled receptor 113 (GPR113), transcript variant 2, mRNA. 0 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1) 24 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) ATGCAGCCTTCATTTGTGGCC 0.507000 15 4 0 0 0.009096 0 0 OR52A1 23538 broad.mit.edu 37 11 5173472 5173472 + Missense_Mutation SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr11:5173472C>T uc010qyy.2 - 0 128 c.128G>A c.(127-129)gGa>gAa p.G43E NM_012375 NP_036507 Q9UKL2 O52A1_HUMAN Homo sapiens olfactory receptor, family 52, subfamily A, member 1 (OR52A1), mRNA. 43 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) CAAGGAATTTCCAATCATAGC 0.468000 65 18 0 0 0.006122 0 0 CLVS1 157807 broad.mit.edu 37 8 62212642 62212642 + Missense_Mutation SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr8:62212642C>T uc003xuh.3 + 1 580 c.256C>T c.(256-258)Cac>Tac p.H86Y CLVS1_uc003xug.2_Missense_Mutation_p.H86Y|CLVS1_uc003xui.3_Intron NM_173519 NP_775790 Q8IUQ0 CLVS1_HUMAN Homo sapiens clavesin 1 (CLVS1), mRNA. 86 lysosome organization clathrin-coated vesicle|early endosome membrane|trans-Golgi network phosphatidylinositol-3,5-bisphosphate binding|transporter activity endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 41 CAGGAAGTTTCACCAAGCGGA 0.468000 36 8 0 0 0.003080 0 0 TNFSF18 8995 broad.mit.edu 37 1 173010837 173010837 + Missense_Mutation SNP T A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr1:173010837T>A uc001giu.2 - 2 271 c.270A>T c.(268-270)aaA>aaT p.K90N NM_005092 NP_005083 Q9UNG2 TNF18_HUMAN Homo sapiens tumor necrosis factor (ligand) superfamily, member 18 (TNFSF18), mRNA. 90 anti-apoptosis|cell-cell signaling|immune response|signal transduction extracellular space|integral to membrane cytokine activity|tumor necrosis factor receptor binding breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1) 9 CCATTTGCCATTTTGAGGGTA 0.343000 127 27 0 0 0.009535 0 0 ANKRD36C 400986 broad.mit.edu 37 2 96593000 96593000 + RNA SNP A G G rs111976783 TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr2:96593000A>G uc010yug.1 - 26 c.1913T>C ANKRD36C_uc002sva.1_Non-coding_Transcript|ANKRD36C_uc002svc.1_Non-coding_Transcript Homo sapiens cDNA FLJ54441 complete cds, highly similar to Homo sapiens ankyrin repeat domain 36 (ANKRD36), mRNA. p.I634T(1) breast(1)|endometrium(8)|kidney(5)|lung(4) 18 TTCTGTGGCTATATTTGAAAC 0.338000 39 4 0 0 0.009096 0 0 KLHL13 90293 broad.mit.edu 37 X 117043590 117043590 + Missense_Mutation SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chrX:117043590C>T uc011mtp.2 - 5 1182 c.1049G>A c.(1048-1050)gGa>gAa p.G350E KLHL13_uc004eqk.3_Missense_Mutation_p.G296E|KLHL13_uc004eql.3_Missense_Mutation_p.G347E|KLHL13_uc011mtn.2_Missense_Mutation_p.G187E|KLHL13_uc011mto.2_Missense_Mutation_p.G341E|KLHL13_uc011mtq.2_Missense_Mutation_p.G331E|KLHL13_uc004eqm.3_Missense_Mutation_p.G305E|KLHL13_uc022cde.1_Missense_Mutation_p.G331E NM_001168299 NP_001161775 Q9P2N7 KLH13_HUMAN Homo sapiens kelch-like 13 (Drosophila) (KLHL13), transcript variant 2, mRNA. 347 cytokinesis|mitosis|protein ubiquitination Cul3-RING ubiquitin ligase complex p.G347V(1) 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 CCTCAGCACTCCTCCTAGTGT 0.498000 43 11 0 0 0.010729 0 0 PCDHAC2 56134 broad.mit.edu 37 5 140216149 140216149 + Silent SNP C G G TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr5:140216149C>G uc003lhq.2 + 0 2181 c.2181C>G c.(2179-2181)tcC>tcG p.S727S 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_uc011dac.2_Silent_p.S727S NM_018910 NP_061733 Q9Y5I4 PCDC2_HUMAN Homo sapiens protocadherin alpha 7 (PCDHA7), transcript variant 1, mRNA. 735 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) CAGCGCCGTCCTCTGAGGGCG 0.612000 45 12 0 0 0.013537 0 0 SEMA3D 223117 broad.mit.edu 37 7 84702398 84702398 + Splice_Site SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr7:84702398C>T uc003uic.3 - 4 416 c.376_splice c.e4-1 p.T126_splice SEMA3D_uc010led.3_Splice_Site_p.T126_splice|SEMA3D_uc010lee.1_Splice_Site_p.T126_splice NM_152754 NP_689967 O95025 SEM3D_HUMAN Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D (SEMA3D), mRNA. 126 Sema. cell differentiation|nervous system development extracellular region|membrane receptor activity NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2) 73 CACATTCTGTCTGTTGGGCAC 0.333000 29 8 0 0 0.004482 0 0 TRAV14DV4 28669 broad.mit.edu 37 14 22392629 22392630 + Missense_Mutation DNP GT AA AA TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr14:22392629_22392630GT>AA uc010aiz.2 + 1 227_228 c.152_153GT>AA c.(151-153)agt>aAA p.S51K 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|TRAV14DV4_uc021rpk.1_Non-coding_Transcript SubName: Full=HADV14S1; Flags: Fragment; AGTGATCAAAGTTATGGTCTAT 0.460000 73 15 0 0 0.004672 0 0 C11orf42 160298 broad.mit.edu 37 11 6231301 6231301 + Silent SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr11:6231301G>A uc001mcj.3 + 1 342 c.294G>A c.(292-294)cgG>cgA p.R98R NM_173525 NP_775796 Q8N5U0 CK042_HUMAN Homo sapiens chromosome 11 open reading frame 42 (C11orf42), mRNA. 98 p.R98Q(1) endometrium(3)|kidney(3)|large_intestine(1)|lung(4)|ovary(2)|skin(1)|soft_tissue(1) 15 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;1.95e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135) ACTGCACTCGGGAATACTCAC 0.607000 51 12 0 0 0.010729 0 0 LIPC 3990 broad.mit.edu 37 15 58855829 58855829 + Missense_Mutation SNP C G G TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr15:58855829C>G uc010bga.2 + 9 1903 c.1295C>G c.(1294-1296)aCg>aGg p.T432R LIPC_uc010bfz.1_Missense_Mutation_p.T432R|LIPC_uc002afa.2_Missense_Mutation_p.T432R|LIPC_uc010bgb.1_Missense_Mutation_p.T330R|LIPC_uc010ugy.2_Missense_Mutation_p.T371R NM_000236 NP_000227 P11150 LIPC_HUMAN Homo sapiens lipase, hepatic (LIPC), mRNA. 432 PLAT. cholesterol homeostasis|chylomicron remnant clearance|fatty acid biosynthetic process|high-density lipoprotein particle remodeling|intermediate-density lipoprotein particle remodeling|low-density lipoprotein particle remodeling|phosphatidylcholine catabolic process|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling high-density lipoprotein particle apolipoprotein binding|heparin binding|low-density lipoprotein particle binding|phospholipase activity|triglyceride lipase activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 Colorectal(260;0.215) GBM - Glioblastoma multiforme(80;0.00213)|all cancers(107;0.00548) GTCTGGGACACGGTCCAGACC 0.532000 27 5 0 0 0.000602 0 0 F2R 2149 broad.mit.edu 37 5 76028685 76028685 + Missense_Mutation SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr5:76028685C>T uc003ken.4 + 1 900 c.635C>T c.(634-636)tCc>tTc p.S212F NM_001992 NP_001983 P25116 PAR1_HUMAN Homo sapiens coagulation factor II (thrombin) receptor (F2R), mRNA. 212 STAT protein import into nucleus|activation of caspase activity|anatomical structure morphogenesis|connective tissue replacement involved in inflammatory response wound healing|negative regulation of cell proliferation|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JAK-STAT cascade|positive regulation of MAPKKK cascade|positive regulation of blood coagulation|positive regulation of cell migration|positive regulation of collagen biosynthetic process|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of transcription, DNA-dependent|tyrosine phosphorylation of STAT protein Golgi apparatus|caveola|extracellular region|integral to plasma membrane|platelet dense tubular network receptor binding|thrombin receptor activity NS(1)|breast(1)|endometrium(3)|kidney(1)|lung(7)|ovary(3) 16 all_lung(232;0.000414)|Lung NSC(167;0.0011)|Prostate(461;0.00955)|Ovarian(174;0.0129) all cancers(79;4.43e-43) Streptokinase(DB00086) CAGTCCCTCTCCTGGCGTACT 0.532000 144 31 0 0 0.012213 0 0 ZNF558 148156 broad.mit.edu 37 19 8922646 8922646 + Missense_Mutation SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr19:8922646G>A uc002mkn.1 - 5 750 c.520C>T c.(520-522)Cat>Tat p.H174Y ZNF558_uc010xkh.1_Missense_Mutation_p.H103Y|ZNF558_uc010dwg.1_Missense_Mutation_p.H174Y NM_144693 NP_653294 Q96NG5 ZN558_HUMAN Homo sapiens zinc finger protein 558 (ZNF558), mRNA. 174 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1) 15 TCTCCAGTATGAATTCTCTTG 0.393000 36 4 0 0 0.009096 0 0 POLR2A 5430 broad.mit.edu 37 17 7415630 7415630 + Missense_Mutation SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr17:7415630C>T uc002ghf.4 + 25 4845 c.4459C>T c.(4459-4461)Ccc>Tcc p.P1487S NM_000937 NP_000928 P24928 RPB1_HUMAN Homo sapiens polymerase (RNA) II (DNA directed) polypeptide A, 220kDa (POLR2A), mRNA. 1487 mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction DNA-directed RNA polymerase II, core complex DNA binding|DNA-directed RNA polymerase activity|RNA-directed RNA polymerase activity|metal ion binding|ubiquitin protein ligase binding breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 50 Prostate(122;0.173) CATGGAGATCCCCACCAATAT 0.642000 45 10 0 0 0.013537 0 0 CTNNA2 1496 broad.mit.edu 37 2 79971629 79971629 + Missense_Mutation SNP A T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr2:79971629A>T uc010ysh.2 + 1 224 c.219A>T c.(217-219)gaA>gaT p.E73D CTNNA2_uc010yse.2_Missense_Mutation_p.E73D|CTNNA2_uc010ysf.2_Missense_Mutation_p.E73D|CTNNA2_uc010ysg.2_Missense_Mutation_p.E73D NM_004389 NP_004380 P26232 CTNA2_HUMAN Homo sapiens catenin (cadherin-associated protein), alpha 2 (CTNNA2), transcript variant 1, mRNA. 73 axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity actin cytoskeleton|axon|cytosol cadherin binding|structural constituent of cytoskeleton breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 78 ATTTCCTGGAAAAGGGTGAAC 0.458000 26 11 0 0 0.008291 0 0 ZNF239 8187 broad.mit.edu 37 10 44053482 44053482 + Nonsense_Mutation SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr10:44053482G>A uc001jaw.4 - 1 699 c.46C>T c.(46-48)Cga>Tga p.R16* ZNF239_uc001jax.4_Nonsense_Mutation_p.R16*|ZNF239_uc009xmj.3_Nonsense_Mutation_p.R16*|ZNF239_uc009xmk.3_Nonsense_Mutation_p.R16*|ZNF239_uc021pph.1_Nonsense_Mutation_p.R16* NM_005674 NP_005665 Q16600 ZN239_HUMAN Homo sapiens zinc finger protein 239 (ZNF239), transcript variant 1, mRNA. 16 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|RNA binding|zinc ion binding endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 ACTTCCCCTCGATGATTCACA 0.463000 38 7 0 0 0.001984 0 0 HSH2D 84941 broad.mit.edu 37 19 16268269 16268269 + Silent SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr19:16268269G>A uc002ndp.4 + 8 1254 c.723G>A c.(721-723)gtG>gtA p.V241V HSH2D_uc002ndr.3_Missense_Mutation_p.D185N|HSH2D_uc010ead.3_Non-coding_Transcript NM_032855 NP_116244 Q96JZ2 HSH2D_HUMAN Homo sapiens hematopoietic SH2 domain containing (HSH2D), mRNA. 241 cytoplasm|nucleus central_nervous_system(1)|kidney(1)|large_intestine(2) 4 GATCCACGGTGATCTCAGGCC 0.597000 51 17 0 0 0.007413 0 0 HDAC8 55869 broad.mit.edu 37 X 71549926 71549926 + Splice_Site SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chrX:71549926C>T uc004eau.3 - 11 1454 c.1112_splice c.e11-1 p.G371_splice HDAC8_uc011mqe.2_Splice_Site_p.G228_splice|HDAC8_uc011mqg.2_Splice_Site_p.G280_splice|HDAC8_uc011mqf.2_Splice_Site NM_018486 NP_060956 Q9BY41 HDAC8_HUMAN Homo sapiens histone deacetylase 8 (HDAC8), transcript variant 1, mRNA. 371 chromatin assembly or disassembly|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|histone deacetylase complex|nuclear chromosome 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)|metal ion binding|transcription factor binding breast(3)|cervix(1)|endometrium(1)|lung(4)|prostate(1) 10 Renal(35;0.156) Vorinostat(DB02546) CTTCAGATTCCCTGCAAACAG 0.393000 21 10 0 0 0.010729 0 0 SLC5A1 6523 broad.mit.edu 37 22 32479098 32479098 + Silent SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr22:32479098G>A uc003amc.3 + 6 871 c.621G>A c.(619-621)caG>caA p.Q207Q SLC5A1_uc011alz.2_Silent_p.Q80Q NM_000343 NP_000334 P13866 SC5A1_HUMAN Homo sapiens solute carrier family 5 (sodium/glucose cotransporter), member 1 (SLC5A1), transcript variant 1, mRNA. 207 carbohydrate metabolic process integral to plasma membrane glucose:sodium symporter activity|protein binding NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1) 37 ACACCTTGCAGACGGTGATCA 0.582000 38 10 0 0 0.013537 0 0 CCDC147 159686 broad.mit.edu 37 10 106163540 106163540 + Missense_Mutation SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr10:106163540G>A uc001kyh.3 + 13 2227 c.2093G>A c.(2092-2094)cGa>cAa p.R698Q NM_001008723 NP_001008723 Q5T655 CC147_HUMAN Homo sapiens coiled-coil domain containing 147 (CCDC147), mRNA. 698 NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2) 52 Colorectal(252;0.103)|Breast(234;0.122) Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189) ACACGCTGCCGAGCCCTGGAG 0.488000 13 4 0 0 0.000602 0 0 ATP10B 23120 broad.mit.edu 37 5 160025933 160025933 + Silent SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr5:160025933G>A uc003lym.1 - 21 4255 c.3408C>T c.(3406-3408)ttC>ttT p.F1136F ATP10B_uc010jit.1_Intron NM_025153 NP_079429 O94823 AT10B_HUMAN Homo sapiens ATPase, class V, type 10B (ATP10B), mRNA. 1136 ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity p.F1136I(1) NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1) 75 Renal(175;0.00196) Medulloblastoma(196;0.0377)|all_neural(177;0.121) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) TGGAGCTGGAGAAACCACAGA 0.498000 60 14 0 0 0.001855 0 0 SLIT2 9353 broad.mit.edu 37 4 20525515 20525515 + Silent SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr4:20525515C>T uc003gpr.1 + 12 1467 c.1263C>T c.(1261-1263)gcC>gcT p.A421A SLIT2_uc003gps.1_Silent_p.A421A NM_004787 NP_004778 O94813 SLIT2_HUMAN Homo sapiens slit homolog 2 (Drosophila) (SLIT2), mRNA. 421 Roundabout signaling pathway|apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|ureteric bud development cell surface|cytoplasm|extracellular space|plasma membrane GTPase inhibitor activity|Roundabout binding|calcium ion binding|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding p.A421T(1)|p.R420L(1)|p.R420W(1) NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1) 116 CTCTTCGGGCCATTCAAACTA 0.418000 93 9 0 0 0.006214 0 0 ADARB2 105 broad.mit.edu 37 10 1313167 1313167 + Missense_Mutation SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr10:1313167C>T uc009xhq.3 - 3 1501 c.1175G>A c.(1174-1176)gGa>gAa p.G392E NM_018702 NP_061172 Q9NS39 RED2_HUMAN Homo sapiens adenosine deaminase, RNA-specific, B2 (ADARB2), mRNA. 392 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) CATGACGATTCCTGCCAGCGC 0.532000 21 5 0 0 0.003080 0 0 F10 2159 broad.mit.edu 37 13 113795286 113795286 + Missense_Mutation SNP G A A rs61753266 byFrequency TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr13:113795286G>A uc001vsx.3 + 4 481 c.424G>A c.(424-426)Gag>Aag p.E142K F10_uc010agq.1_Non-coding_Transcript|F10_uc001vsy.3_Missense_Mutation_p.E142K NM_000504 NP_000495 P00742 FA10_HUMAN Homo sapiens coagulation factor X (F10), mRNA. 142 EGF-like 2. E -> K (in FA10D; uncertain pathological significance; detected in patients carrying K-54 or P-374; slightly reduced activity). blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of cell migration|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis Golgi lumen|endoplasmic reticulum lumen|extracellular region calcium ion binding|phospholipid binding|protein binding|serine-type endopeptidase activity endometrium(2)|large_intestine(4)|lung(10)|pancreas(1)|stomach(1) 18 all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163) all_cancers(25;0.113)|all_lung(25;0.0364)|all_epithelial(44;0.0373)|Lung NSC(25;0.128)|Breast(118;0.188) all cancers(43;0.0805)|Epithelial(84;0.231) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Enoxaparin(DB01225)|Heparin(DB01109)|Menadione(DB00170)|Reteplase(DB00015)|Tenecteplase(DB00031) GTTCTGCCACGAGGAACAGAA 0.612000 69 14 0 0 0.003163 0 0 PPP2R2C 5522 broad.mit.edu 37 4 6380249 6380249 + Silent SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr4:6380249G>A uc003gja.3 - 2 243 c.219C>T c.(217-219)ttC>ttT p.F73F PPP2R2C_uc003gjb.3_Silent_p.F56F|PPP2R2C_uc003gjc.3_Silent_p.F73F|PPP2R2C_uc011bwd.2_Silent_p.F66F|PPP2R2C_uc011bwe.2_Silent_p.F66F|PPP2R2C_uc003gjd.1_Silent_p.F161F NM_181876 NP_870991 Q9Y2T4 2ABG_HUMAN Homo sapiens protein phosphatase 2, regulatory subunit B, gamma (PPP2R2C), transcript variant 2, mRNA. 73 signal transduction protein phosphatase type 2A complex protein phosphatase type 2A regulator activity central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1) 28 CGTGGCTCTGGAAAGTGCTGT 0.577000 91 33 0 0 0.003271 0 0 HHATL 57467 broad.mit.edu 37 3 42735179 42735179 + Missense_Mutation SNP T G G TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr3:42735179T>G uc003clw.3 - 10 1325 c.1178A>C c.(1177-1179)aAc>aCc p.N393T HHATL_uc003clx.3_Missense_Mutation_p.N393T NM_020707 NP_065758 Q9HCP6 HHATL_HUMAN Homo sapiens hedgehog acyltransferase-like (HHATL), transcript variant 1, mRNA. 393 negative regulation of N-terminal protein palmitoylation endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(3)|prostate(3) 19 KIRC - Kidney renal clear cell carcinoma(284;0.215) GCCAAAGCAGTTAAGGAATGA 0.562000 23 9 0 0 0.008291 0 0 DSC3 1825 broad.mit.edu 37 18 28611119 28611119 + Silent SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr18:28611119G>A uc002kwj.4 - 2 329 c.174C>T c.(172-174)ttC>ttT p.F58F DSC3_uc002kwi.4_Silent_p.F58F NM_001941 NP_001932 Q14574 DSC3_HUMAN Homo sapiens desmocollin 3 (DSC3), transcript variant Dsc3a, mRNA. 58 homophilic cell adhesion|protein stabilization desmosome|integral to membrane|membrane fraction calcium ion binding|gamma-catenin binding endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 56 OV - Ovarian serous cystadenocarcinoma(10;0.125) CTGCAGACCTGAAGCACTCTT 0.358000 24 10 0 0 0.008291 0 0 DACH1 1602 broad.mit.edu 37 13 72255957 72255957 + Missense_Mutation SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr13:72255957G>A uc021rkj.1 - 1 1363 c.940C>T c.(940-942)Ctc>Ttc p.L314F DACH1_uc021rkk.1_Missense_Mutation_p.L314F|DACH1_uc021rkl.1_Missense_Mutation_p.L314F NM_080759 NP_542937 Q9UI36 DACH1_HUMAN Homo sapiens dachshund homolog 1 (Drosophila) (DACH1), transcript variant 1, mRNA. 312 Interaction with SIX6 and HDAC3 (By similarity). multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus DNA binding|nucleotide binding|protein binding NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 41 Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198) GBM - Glioblastoma multiforme(99;0.00032) GGAGACATGAGACCAGGGACA 0.428000 61 16 0 0 0.007413 0 0 OR6B1 135946 broad.mit.edu 37 7 143701563 143701563 + Silent SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr7:143701563G>A uc003wdt.1 + 0 474 c.474G>A c.(472-474)gcG>gcA p.A158A NM_001005281 NP_001005281 O95007 OR6B1_HUMAN Homo sapiens olfactory receptor, family 6, subfamily B, member 1 (OR6B1), mRNA. 158 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.A158A(2) breast(1)|endometrium(3)|large_intestine(3)|lung(15)|ovary(2)|skin(2)|urinary_tract(1) 27 Melanoma(164;0.0783) TCTCCCTGGCGAAGATCTACT 0.532000 25 7 0 0 0.001984 0 0 EDC4 23644 broad.mit.edu 37 16 67914531 67914531 + Silent SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr16:67914531C>T uc002eur.3 + 17 2408 c.2169C>T c.(2167-2169)tcC>tcT p.S723S EDC4_uc010cer.3_Silent_p.S342S|EDC4_uc002eus.3_Silent_p.S453S|EDC4_uc002eut.1_5'Flank NM_014329 NP_055144 Q6P2E9 EDC4_HUMAN Homo sapiens enhancer of mRNA decapping 4 (EDC4), mRNA. 723 exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay cytoplasmic mRNA processing body|cytosol|nucleus protein binding breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2) 41 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121) CCCAAGCCTCCCCTAGCCGCA 0.617000 161 37 0 0 0.006230 0 0 TTN 7273 broad.mit.edu 37 2 179440423 179440423 + Missense_Mutation SNP C T T rs140127488 by1000genomes TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr2:179440423C>T uc021vsy.1 - 274 62957 c.62732G>A c.(62731-62733)cGg>cAg p.R20911Q MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.R14606Q|TTN_uc021vta.1_Missense_Mutation_p.R14539Q|TTN_uc021vtb.1_Missense_Mutation_p.R14414Q NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 21838 Ig-like 112. 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) ATAAGATTTCCGTGTTGCTTC 0.453000 73 20 0 0 0.007413 0 0 SCARB1 949 broad.mit.edu 37 12 125298774 125298774 + Missense_Mutation SNP T C C rs141478587 TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr12:125298774T>C uc001ugp.3 - 3 857 c.604A>G c.(604-606)Aag>Gag p.K202E SCARB1_uc001ugm.4_Missense_Mutation_p.K202E|SCARB1_uc001ugn.4_Missense_Mutation_p.K202E|SCARB1_uc010tbd.2_Missense_Mutation_p.K202E|SCARB1_uc001ugo.4_Missense_Mutation_p.K202E NM_001082959 NP_001076428 Q8WTV0 SCRB1_HUMAN Homo sapiens scavenger receptor class B, member 1 (SCARB1), transcript variant 2, mRNA. 202 adhesion to symbiont|cell adhesion|cholesterol efflux|cholesterol homeostasis|cholesterol import|detection of lipopolysaccharide|high-density lipoprotein particle clearance|high-density lipoprotein particle remodeling|lipopolysaccharide transport|lipoprotein metabolic process|positive regulation of cholesterol storage|positive regulation of endothelial cell migration|positive regulation of nitric-oxide synthase activity|recognition of apoptotic cell|reverse cholesterol transport|triglyceride homeostasis|wound healing caveola 1-phosphatidylinositol binding|apolipoprotein A-I binding|high-density lipoprotein particle receptor activity|lipopolysaccharide receptor activity|low-density lipoprotein particle binding|phosphatidylserine binding|transporter activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|prostate(1) 17 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000116)|Epithelial(86;0.000415)|all cancers(50;0.00395) Phosphatidylserine(DB00144) AACTTGTCCTTGAAGGGGAAC 0.527000 89 15 0 0 0.004007 0 0 CDC20 991 broad.mit.edu 37 1 43825482 43825482 + Silent SNP T C C TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr1:43825482T>C uc001cix.3 + 3 518 c.417T>C c.(415-417)aaT>aaC p.N139N CDC20_uc001ciy.3_Silent_p.N139N NM_001255 NP_001246 Q12834 CDC20_HUMAN Homo sapiens cell division cycle 20 homolog (S. cerevisiae) (CDC20), mRNA. 139 activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of synapse maturation|positive regulation of synaptic plasticity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle cytosol|nucleoplasm|spindle enzyme binding|protein C-terminus binding endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1) 15 all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0333) AACCACAAAATGCGCCAGAGG 0.502000 113 21 0 0 0.008871 0 0 C10orf2 56652 broad.mit.edu 37 10 102748876 102748876 + Silent SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr10:102748876G>A uc001ksf.2 + 0 1584 c.909G>A c.(907-909)cgG>cgA p.R303R MRPL43_uc001kry.1_5'Flank|MRPL43_uc010qpu.1_5'Flank|MRPL43_uc001krz.1_5'Flank|MRPL43_uc001ksa.1_5'Flank|MRPL43_uc001ksb.1_5'Flank|MRPL43_uc001ksc.3_5'Flank|MRPL43_uc001ksd.1_5'Flank|C10orf2_uc010qpv.1_Intron|C10orf2_uc001ksg.2_Silent_p.R303R|C10orf2_uc001ksi.2_Intron|C10orf2_uc021pxb.1_Non-coding_Transcript NM_021830 NP_068602 Q96RR1 PEO1_HUMAN Homo sapiens chromosome 10 open reading frame 2 (C10orf2), transcript variant 1, mRNA. 303 R -> Q (in PEOA3).|R -> W (in PEOA3; also detected in a case showing digenic inheritance). cell death|mitochondrial DNA replication|protein hexamerization|protein homooligomerization|transcription from mitochondrial promoter mitochondrial nucleoid 5'-3' DNA helicase activity|ATP binding|protease binding|single-stranded DNA binding breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|stomach(1) 24 Colorectal(252;0.122)|all_hematologic(284;0.152) Epithelial(162;7.18e-11)|all cancers(201;8.75e-09)|BRCA - Breast invasive adenocarcinoma(275;0.224) AGTTCCGGCGGATTGTATTCT 0.572000 143 33 0 0 0.013726 0 0 ST7L 54879 broad.mit.edu 37 1 113153605 113153605 + Silent SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr1:113153605G>A uc001ecd.3 - 2 614 c.309C>T c.(307-309)ttC>ttT p.F103F ST7L_uc009wgh.3_Non-coding_Transcript|ST7L_uc001ecc.3_5'UTR|ST7L_uc010owg.2_Silent_p.F103F|ST7L_uc010owh.2_Silent_p.F103F|ST7L_uc001ecf.3_Silent_p.F86F|ST7L_uc001ece.3_Silent_p.F103F|ST7L_uc001ecg.3_Non-coding_Transcript|ST7L_uc010owi.2_Silent_p.F38F|ST7L_uc001ech.3_Silent_p.F86F|ST7L_uc001eci.3_Silent_p.F103F|ST7L_uc009wgi.1_Non-coding_Transcript|ST7L_uc010owj.1_Silent_p.F86F NM_017744 NP_060214 Q8TDW4 ST7L_HUMAN Homo sapiens suppression of tumorigenicity 7 like (ST7L), transcript variant 1, mRNA. 103 negative regulation of cell growth integral to membrane binding endometrium(1)|kidney(4)|large_intestine(3)|lung(1)|prostate(2)|stomach(1)|urinary_tract(3) 15 Lung SC(450;0.246) all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-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) CATGCTTATGGAAGTACCACC 0.393000 25 4 0 0 0.009096 0 0 GOLM1 51280 broad.mit.edu 37 9 88650316 88650316 + Missense_Mutation SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr9:88650316C>T uc004aol.3 - 7 1188 c.982G>A c.(982-984)Gga>Aga p.G328R GOLM1_uc004aom.3_Missense_Mutation_p.G328R NM_016548 NP_808800 Q8NBJ4 GOLM1_HUMAN Homo sapiens golgi membrane protein 1 (GOLM1), transcript variant 1, mRNA. 328 Golgi apparatus|integral to plasma membrane breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1) 17 TCCTCCTGTCCGTCGGGGATG 0.637000 OREG0019278 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 71 19 0 0 0.010504 0 0 RNF4 6047 broad.mit.edu 37 4 2514858 2514858 + Splice_Site SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr4:2514858G>A uc003gfb.3 + 7 771 c.423_splice c.e7+1 p.E141_splice RNF4_uc010icj.3_Splice_Site_p.R88_splice|RNF4_uc003gfc.3_Splice_Site_p.E141_splice NM_002938 NP_002929 P78317 RNF4_HUMAN Homo sapiens ring finger protein 4 (RNF4), transcript variant 2, mRNA. 141 androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|proteasomal ubiquitin-dependent protein catabolic process|protein K11-linked ubiquitination|protein K48-linked ubiquitination|protein K6-linked ubiquitination|protein K63-linked ubiquitination|protein autoubiquitination|regulation of kinetochore assembly|regulation of spindle assembly|response to arsenic-containing substance PML body|cytoplasm DNA binding|SUMO polymer binding|androgen receptor binding|nucleosome binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|ubiquitin-protein ligase activity|zinc ion binding endometrium(2)|kidney(2)|lung(1) 5 all_epithelial(65;0.241) GATACTCAGAGGTAAGTAAAC 0.468000 168 47 0 0 0.014410 0 0 ZNF831 128611 broad.mit.edu 37 20 57828097 57828097 + Silent SNP A G G TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr20:57828097A>G uc002yan.3 + 3 4092 c.4092A>G c.(4090-4092)gaA>gaG p.E1364E NM_178457 NP_848552 Q5JPB2 ZN831_HUMAN Homo sapiens zinc finger protein 831 (ZNF831), mRNA. 1364 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) GTGGGAAGGAAGAGAAGAAGG 0.478000 73 4 0 0 0.009096 0 0 RYR1 6261 broad.mit.edu 37 19 38985093 38985093 + Missense_Mutation SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr19:38985093C>T uc002oit.3 + 38 6506 c.6376C>T c.(6376-6378)Cgg>Tgg p.R2126W RYR1_uc002oiu.3_Missense_Mutation_p.R2126W|RYR1_uc002oiv.1_5'Flank NM_000540 NP_000531 P21817 RYR1_HUMAN Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA. 2126 6 X approximate repeats. muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia I band|cell cortex|cytosol|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7) 285 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) CCTCCTGCACCGGCAGTACGA 0.672000 60 12 0 0 0.010729 0 0 RNPEP 6051 broad.mit.edu 37 1 201966479 201966479 + Missense_Mutation SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr1:201966479C>T uc001gxd.3 + 4 916 c.887C>T c.(886-888)cCa>cTa p.P296L RNPEP_uc001gxe.3_5'UTR NM_020216 NP_064601 Q9H4A4 AMPB_HUMAN Homo sapiens arginyl aminopeptidase (aminopeptidase B) (RNPEP), mRNA. 296 leukotriene biosynthetic process epoxide hydrolase activity|zinc ion binding breast(1)|endometrium(4)|large_intestine(4)|lung(6)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|Colorectal(1306;0.005) CCGTCCTTTCCATTTGGAGGA 0.587000 93 15 0 0 0.006122 0 0 GRM7 2917 broad.mit.edu 37 3 7340474 7340474 + Silent SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr3:7340474C>T uc003bqm.2 + 2 1114 c.840C>T c.(838-840)tcC>tcT p.S280S GRM7_uc011ata.1_Non-coding_Transcript|GRM7_uc011atb.1_Non-coding_Transcript|GRM7_uc010hcf.2_Non-coding_Transcript|GRM7_uc011atc.1_Non-coding_Transcript|GRM7_uc010hcg.2_Silent_p.S280S|GRM7_uc003bql.2_Silent_p.S280S|GRM7_uc003bqn.1_5'UTR NM_000844 NP_000835 Q14831 GRM7_HUMAN Homo sapiens glutamate receptor, metabotropic 7 (GRM7), transcript variant 1, mRNA. 280 negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone PDZ domain binding|adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|serine binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 76 L-Glutamic Acid(DB00142) CCCCCAACTCCAGGGCCGTCG 0.438000 34 12 0 0 0.013537 0 0 TBPL2 387332 broad.mit.edu 37 14 55902631 55902631 + Silent SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr14:55902631G>A uc001xby.3 - 2 630 c.630C>T c.(628-630)aaC>aaT p.N210N NM_199047 NP_950248 Q6SJ96 TBPL2_HUMAN Homo sapiens TATA box binding protein like 2 (TBPL2), mRNA. 210 multicellular organismal development|transcription initiation from RNA polymerase II promoter cytoplasm|nucleus DNA binding endometrium(2)|kidney(1)|large_intestine(1)|lung(4) 8 TACAGGCCAGGTTTACAGTGG 0.299000 44 6 0 0 0.003080 0 0 GPR31 2853 broad.mit.edu 37 6 167571113 167571113 + Silent SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr6:167571113G>A uc011egq.2 - 0 207 c.207C>T c.(205-207)ttC>ttT p.F69F NM_005299 NP_005290 O00270 GPR31_HUMAN Homo sapiens G protein-coupled receptor 31 (GPR31), mRNA. 69 integral to plasma membrane G-protein coupled receptor activity NS(1)|endometrium(4)|large_intestine(4)|lung(7)|prostate(1) 17 Breast(66;1.53e-05)|Ovarian(120;0.0606) OV - Ovarian serous cystadenocarcinoma(33;4.81e-20)|BRCA - Breast invasive adenocarcinoma(81;4.45e-06)|GBM - Glioblastoma multiforme(31;0.00492) AGGCGGCCAGGAAAGGCAGGC 0.657000 30 4 0 0 0.000602 0 0 ANK3 288 broad.mit.edu 37 10 61840357 61840357 + Missense_Mutation SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr10:61840357C>T uc001jky.3 - 35 4708 c.4370G>A c.(4369-4371)cGa>cAa p.R1457Q ANK3_uc001jkw.3_Missense_Mutation_p.R582Q|ANK3_uc009xpa.3_Missense_Mutation_p.R582Q|ANK3_uc001jkx.3_Missense_Mutation_p.R626Q|ANK3_uc010qih.2_Missense_Mutation_p.R1449Q|ANK3_uc001jkz.4_Missense_Mutation_p.R1442Q|ANK3_uc001jla.1_Missense_Mutation_p.R514Q|ANK3_uc001jkv.3_5'UTR|ANK3_uc009xpb.1_Non-coding_Transcript|ANK3_uc009xpc.1_Non-coding_Transcript|Y_RNA_uc021prg.1_5'Flank NM_020987 NP_066267 Q12955 ANK3_HUMAN Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA. 1457 establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 196 GAAGCTCTGTCGTCTATCTGT 0.388000 29 6 0 0 0.001168 0 0 PLXDC2 84898 broad.mit.edu 37 10 20290867 20290867 + Silent SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr10:20290867C>T uc001iqg.1 + 1 913 c.276C>T c.(274-276)ttC>ttT p.F92F PLXDC2_uc001iqh.1_Silent_p.F92F NM_032812 NP_116201 Q6UX71 PXDC2_HUMAN Homo sapiens plexin domain containing 2 (PLXDC2), mRNA. 92 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 CCAGAAGCTTCACAGACCTGC 0.468000 25 4 0 0 0.009096 0 0 AGPAT4 56895 broad.mit.edu 37 6 161560492 161560492 + Missense_Mutation SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr6:161560492G>A uc003qtr.1 - 7 1231 c.1004C>T c.(1003-1005)tCc>tTc p.S335F AGPAT4_uc003qts.1_Missense_Mutation_p.S195F|AGPAT4_uc011egb.1_Missense_Mutation_p.S173F NM_020133 NP_064518 Q9NRZ5 PLCD_HUMAN Homo sapiens 1-acylglycerol-3-phosphate O-acyltransferase 4 (lysophosphatidic acid acyltransferase, delta) (AGPAT4), mRNA. 335 phospholipid biosynthetic process integral to membrane 1-acylglycerol-3-phosphate O-acyltransferase activity|protein binding endometrium(1)|large_intestine(10)|lung(10)|ovary(2)|skin(2) 25 Breast(66;0.000289)|Ovarian(120;0.0266)|Prostate(117;0.0285) OV - Ovarian serous cystadenocarcinoma(65;2.23e-17)|BRCA - Breast invasive adenocarcinoma(81;3.58e-05) CAGCGTCAGGGAAGACCCGCT 0.627000 112 10 0 0 0.010729 0 0 HIST1H2AA 221613 broad.mit.edu 37 6 25726650 25726650 + Missense_Mutation SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr6:25726650G>A uc003nfc.3 - 0 141 c.106C>T c.(106-108)Cgt>Tgt p.R36C HIST1H2BA_uc003nfd.3_5'Flank NM_170745 NP_734466 Q96QV6 H2A1A_HUMAN Homo sapiens histone cluster 1, H2aa (HIST1H2AA), mRNA. 36 nucleosome assembly nucleosome|nucleus DNA binding breast(1)|endometrium(2)|large_intestine(2)|lung(8) 13 TTTCCCTTACGAAGCAGACGA 0.552000 48 5 0 0 0.001168 0 0 MLL2 8085 broad.mit.edu 37 19 36227864 36227864 + Missense_Mutation SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr19:36227864G>A uc021usv.1 + 31 7349 c.7349G>A c.(7348-7350)cGa>cAa p.R2450Q MLL2_uc021usu.1_Missense_Mutation_p.R1264Q NM_014727 NP_055542 O14686 MLL2_HUMAN Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 4 (MLL4), mRNA. 5279 Pro-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 GGGCATGCCCGACTCAGACAT 0.607000 """N, F, Mis""" """medulloblastoma, renal""" HNSCC(34;0.089) 16 6 0 0 0.001984 0 0 RIMBP2 23504 broad.mit.edu 37 12 130926716 130926716 + Missense_Mutation SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr12:130926716G>A uc001uil.2 - 7 1346 c.1130C>T c.(1129-1131)tCg>tTg p.S377L RIMBP2_uc001uim.3_Missense_Mutation_p.S285L NM_015347 NP_056162 O15034 RIMB2_HUMAN Homo sapiens RIMS binding protein 2 (RIMBP2), mRNA. 377 Fibronectin type-III 1. cell junction|synapse NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1) 96 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.213) OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05) CAGCTCATCCGAGCTGCCCCT 0.642000 40 13 0 0 0.013537 0 0 SERPINA3 12 broad.mit.edu 37 14 95088707 95088707 + Missense_Mutation SNP T A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr14:95088707T>A uc001ydp.3 + 3 1106 c.947T>A c.(946-948)tTt>tAt p.F316Y SERPINA3_uc001ydo.4_Missense_Mutation_p.F341Y|SERPINA3_uc001ydr.3_Non-coding_Transcript|SERPINA3_uc021sbb.1_Intron|SERPINA3_uc010avg.3_Missense_Mutation_p.F316Y|SERPINA3_uc001yds.3_Missense_Mutation_p.F316Y NM_001085 NP_001076 P01011 AACT_HUMAN Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3 (SERPINA3), mRNA. 316 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) CTGCCAAAGTTTTCCATCTCG 0.507000 47 20 0 0 0.003330 0 0 PCDHB13 56123 broad.mit.edu 37 5 140595300 140595300 + Silent SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr5:140595300C>T uc003lja.1 + 0 1792 c.1605C>T c.(1603-1605)gaC>gaT p.D535D NM_018933 NP_061756 Q9Y5F0 PCDBD_HUMAN Homo sapiens protocadherin beta 13 (PCDHB13), mRNA. 535 Cadherin 5. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding p.D535E(2) NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1) 66 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GCGCTTCAGACCACGGCTCCC 0.677000 52 15 0 0 0.003163 0 0 MMP16 4325 broad.mit.edu 37 8 89053914 89053914 + Missense_Mutation SNP A C C TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr8:89053914A>C uc003yeb.4 - 9 1881 c.1599T>G c.(1597-1599)gaT>gaG p.D533E NM_005941 NP_005932 P51512 MMP16_HUMAN Homo sapiens matrix metallopeptidase 16 (membrane-inserted) (MMP16), mRNA. 533 collagen catabolic process|proteolysis cell surface|integral to plasma membrane|proteinaceous extracellular matrix calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3) 81 CTGTTGGTCCATCACAGCCCA 0.428000 67 20 0 0 0.007413 0 0 POSTN 10631 broad.mit.edu 37 13 38153461 38153461 + Missense_Mutation SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr13:38153461G>A uc001uwo.4 - 12 1814 c.1696C>T c.(1696-1698)Cac>Tac p.H566Y POSTN_uc010tet.2_Missense_Mutation_p.H94Y|POSTN_uc001uwp.4_Missense_Mutation_p.H566Y|POSTN_uc001uwr.3_Missense_Mutation_p.H566Y|POSTN_uc001uwq.3_Missense_Mutation_p.H566Y|POSTN_uc010teu.1_Missense_Mutation_p.H566Y|POSTN_uc010tev.1_Missense_Mutation_p.H566Y|POSTN_uc010tew.1_Missense_Mutation_p.H566Y|POSTN_uc010tex.1_Missense_Mutation_p.H481Y NM_006475 NP_006466 Q15063 POSTN_HUMAN Homo sapiens periostin, osteoblast specific factor (POSTN), transcript variant 1, mRNA. 566 FAS1 4. cell adhesion|skeletal system development proteinaceous extracellular matrix heparin binding cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 59 Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743) all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154) GGTGTCAGGTGATAAAGAATG 0.318000 59 7 0 0 0.006214 0 0 GKN1 56287 broad.mit.edu 37 2 69204770 69204770 + Splice_Site SNP A G G TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr2:69204770A>G uc002sfc.3 + 3 172 c.109_splice c.e3-1 p.N37_splice NM_019617 NP_062563 Q9NS71 GKN1_HUMAN Homo sapiens gastrokine 1 (GKN1), mRNA. 37 digestion|positive regulation of cell division extracellular region breast(2)|large_intestine(4)|lung(5) 11 AAACTTCAGAATATCAACGTC 0.373000 38 6 0 0 0.001168 0 0 TTN 7273 broad.mit.edu 37 2 179490104 179490104 + Missense_Mutation SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr2:179490104C>T uc021vsy.1 - 189 36965 c.36740G>A c.(36739-36741)gGa>gAa p.G12247E MIR548N_uc021vsx.1_Intron|TTN_uc021vsz.1_Missense_Mutation_p.G5942E|TTN_uc021vta.1_Missense_Mutation_p.G5875E|TTN_uc021vtb.1_Missense_Mutation_p.G5750E NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 13174 Ig-like 82. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.G12247E(2)|p.G5875E(1)|p.G5750E(1)|p.G5942E(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) ATGAACTTTTCCTTCTGAACG 0.353000 133 26 0 0 0.007291 0 0 APOBEC2 10930 broad.mit.edu 37 6 41029410 41029410 + Missense_Mutation SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr6:41029410G>A uc003opl.3 + 1 622 c.475G>A c.(475-477)Gag>Aag p.E159K UNC5CL_uc010jxe.1_Intron|APOBEC2_uc010jxf.3_Non-coding_Transcript NM_006789 NP_006780 Q9Y235 ABEC2_HUMAN Homo sapiens apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 2 (APOBEC2), mRNA. 159 DNA demethylation|mRNA processing RNA binding|cytidine deaminase activity|zinc ion binding endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|prostate(2)|skin(1) 10 Ovarian(28;0.0418)|Colorectal(47;0.196) CATGTGGGAGGAGCCGGAGAT 0.537000 82 19 0 0 0.008871 0 0 SIPA1L1 26037 broad.mit.edu 37 14 72190579 72190579 + Missense_Mutation SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr14:72190579C>T uc001xms.3 + 15 4848 c.4487C>T c.(4486-4488)tCc>tTc p.S1496F SIPA1L1_uc001xmt.3_Missense_Mutation_p.S1475F|SIPA1L1_uc001xmu.3_Missense_Mutation_p.S1475F|SIPA1L1_uc001xmv.3_Missense_Mutation_p.S1496F|SIPA1L1_uc010ttm.2_Missense_Mutation_p.S950F NM_015556 NP_056371 O43166 SI1L1_HUMAN Homo sapiens signal-induced proliferation-associated 1 like 1 (SIPA1L1), mRNA. 1496 actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome GTPase activator activity p.S1496F(2) NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1) 78 all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109) ACCATAAACTCCGTGGGATTT 0.478000 76 21 0 0 0.010504 0 0 KIF1B 23095 broad.mit.edu 37 1 10342482 10342482 + Missense_Mutation SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr1:10342482C>T uc001aqx.4 + 14 1527 c.1325C>T c.(1324-1326)tCc>tTc p.S442F KIF1B_uc001aqv.4_Missense_Mutation_p.S396F|KIF1B_uc001aqw.4_Missense_Mutation_p.S396F|KIF1B_uc001aqy.3_Missense_Mutation_p.S416F|KIF1B_uc001aqz.3_Missense_Mutation_p.S442F|KIF1B_uc001ara.3_Missense_Mutation_p.S402F|KIF1B_uc001arb.3_Missense_Mutation_p.S428F NM_015074 NP_055889 O60333 KIF1B_HUMAN Homo sapiens kinesin family member 1B (KIF1B), transcript variant 1, mRNA. 442 anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2) 71 Ovarian(185;0.203) all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642) CTCACTTCATCCCCATCTTCC 0.478000 55 11 0 0 0.010729 0 0 OR4C13 283092 broad.mit.edu 37 11 49974850 49974850 + Missense_Mutation SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr11:49974850G>A uc010rhz.2 + 0 908 c.876G>A c.(874-876)atG>atA p.M292I NM_001001955 NP_001001955 Q8NGP0 OR4CD_HUMAN Homo sapiens olfactory receptor, family 4, subfamily C, member 13 (OR4C13), mRNA. 292 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1) 43 ATGCTCAAATGAAAAATGCCA 0.383000 35 5 0 0 0.001168 0 0 SALL1 6299 broad.mit.edu 37 16 51174572 51174572 + Missense_Mutation SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr16:51174572G>A uc021tif.1 - 1 1592 c.1270C>T c.(1270-1272)Ccc>Tcc p.P424S SALL1_uc021tid.1_Missense_Mutation_p.P424S|SALL1_uc021tie.1_Missense_Mutation_p.P521S|SALL1_uc010cbv.3_Intron NM_001127892 NP_001121364 Q9NSC2 SALL1_HUMAN Homo sapiens sal-like 1 (Drosophila) (SALL1), transcript variant 2, mRNA. 521 adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|ureteric bud invasion|ventricular septum development chromocenter|cytoplasm|heterochromatin|nucleus DNA binding|beta-catenin binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3) 126 all_cancers(37;0.0322) COAD - Colon adenocarcinoma(2;0.24) GTACTCGTGGGGATATTGTCC 0.517000 63 7 0 0 0.004482 0 0 MYOCD 93649 broad.mit.edu 37 17 12626207 12626207 + Silent SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr17:12626207G>A uc002gno.2 + 4 596 c.297G>A c.(295-297)ctG>ctA p.L99L MYOCD_uc002gnn.2_Silent_p.L99L|MYOCD_uc002gnp.1_Silent_p.L3L NM_001146312 NP_001139784 Q8IZQ8 MYCD_HUMAN Homo sapiens myocardin (MYOCD), transcript variant 1, mRNA. 99 cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation nucleus RNA polymerase II transcription factor binding transcription factor activity|nucleic acid binding|transcription factor binding breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 70 UCEC - Uterine corpus endometrioid carcinoma (92;0.0969) AGATGAAGCTGAAAAGAGCCC 0.458000 119 31 0 0 0.008361 0 0 OR6C65 403282 broad.mit.edu 37 12 55794670 55794670 + Missense_Mutation SNP C T T rs146463326 TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr12:55794670C>T uc010spl.2 + 0 358 c.358C>T c.(358-360)Cgc>Tgc p.R120C NM_001005518 NP_001005518 A6NJZ3 O6C65_HUMAN Homo sapiens olfactory receptor, family 6, subfamily C, member 65 (OR6C65), mRNA. 120 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(2)|large_intestine(3)|lung(9) 15 GTCTTATGATCGCTATGTGGC 0.383000 89 24 0 0 0.005443 0 0 LRRIQ3 127255 broad.mit.edu 37 1 74507419 74507419 + Missense_Mutation SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr1:74507419C>T uc001dfy.4 - 6 1388 c.1196G>A c.(1195-1197)cGa>cAa p.R399Q LRRIQ3_uc001dfz.4_Non-coding_Transcript NM_001105659 NP_001099129 A6PVS8 LRIQ3_HUMAN Homo sapiens leucine-rich repeats and IQ motif containing 3 (LRRIQ3), mRNA. 399 p.R399R(1) NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5) 73 CCGCTCCAATCGTATGTCTTT 0.343000 53 17 0 0 0.004990 0 0 MTHFR 4524 broad.mit.edu 37 1 11854540 11854540 + Silent SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr1:11854540G>A uc001atb.1 - 6 1489 c.1291C>T c.(1291-1293)Ctg>Ttg p.L431L MTHFR_uc001atc.2_Silent_p.L408L NM_005957 NP_005948 P42898 MTHR_HUMAN Homo sapiens methylenetetrahydrofolate reductase (NAD(P)H) (MTHFR), mRNA. 408 blood circulation|folic acid metabolic process cytosol methylenetetrahydrofolate reductase (NADPH) activity|protein binding NS(4)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 33 Ovarian(185;0.249) Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649) Benazepril(DB00542)|Cyanocobalamin(DB00115)|Folic Acid(DB00158)|L-Methionine(DB00134)|Menadione(DB00170)|Methotrexate(DB00563)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)|Raltitrexed(DB00293)|Riboflavin(DB00140)|S-Adenosylmethionine(DB00118)|Tetrahydrofolic acid(DB00116) TTGCTCTTCAGGTAGAAGAGG 0.567000 80 20 0 0 0.012319 0 0 IL37 27178 broad.mit.edu 37 2 113674773 113674773 + Silent SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr2:113674773C>T uc002tij.3 + 2 255 c.213C>T c.(211-213)gtC>gtT p.V71V IL37_uc002tim.3_Intron|IL37_uc002tik.3_Silent_p.V50V|IL37_uc002til.3_Intron|IL37_uc002tin.3_Silent_p.V45V NM_014439 NP_055254 Q9NZH6 IL37_HUMAN Homo sapiens interleukin 37 (IL37), transcript variant 1, mRNA. 71 immune response cytosol|extracellular space|nucleus cytokine activity|interleukin-1 receptor antagonist activity|interleukin-1 receptor binding NS(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(7)|ovary(2)|skin(3) 19 AAGTACTGGTCCTGGACTCTG 0.448000 48 22 0 0 0.012319 0 0 BPIFC 254240 broad.mit.edu 37 22 32853335 32853335 + Silent SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr22:32853335G>A uc003amn.2 - 0 39 c.39C>T c.(37-39)ttC>ttT p.F13F BPIFC_uc010gwo.2_5'UTR|BPIFC_uc011amb.1_5'UTR|BPIFC_uc003amo.4_Silent_p.F13F NM_174932 NP_777592 Q8NFQ6 BPIL2_HUMAN Homo sapiens BPI fold containing family C (BPIFC), mRNA. 13 extracellular region lipopolysaccharide binding|phospholipid binding TCCACAGGAGGAAACATCCCC 0.408000 OREG0003513 type=REGULATORY REGION|Gene=BPIL2|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 46 13 0 0 0.002450 0 0 NOVA1 4857 broad.mit.edu 37 14 26917661 26917661 + Missense_Mutation SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr14:26917661C>T uc001wqa.3 - 5 1448 c.662G>A c.(661-663)gGg>gAg p.G221E NOVA1_uc001wpy.3_Missense_Mutation_p.G343E|NOVA1_uc001wpz.3_Missense_Mutation_p.G319E NM_002515 NP_002506 P51513 NOVA1_HUMAN Homo sapiens neuro-oncological ventral antigen 1 (NOVA1), transcript variant 1, mRNA. 346 KH 2. RNA splicing|locomotory behavior|synaptic transmission nucleus RNA binding p.V221A(1)|p.V220A(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) agccaaagcccctgttgctgc 0.522000 15 5 0 0 0.000602 0 0 USP54 159195 broad.mit.edu 37 10 75289647 75289647 + Silent SNP T C C TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr10:75289647T>C uc001juo.3 - 12 1868 c.1851A>G c.(1849-1851)gaA>gaG p.E617E USP54_uc001juk.3_5'UTR|USP54_uc001jul.3_5'UTR|USP54_uc001jum.3_Non-coding_Transcript|USP54_uc001jun.3_Non-coding_Transcript|USP54_uc001jup.3_Silent_p.E617E|U6_uc021ptn.1_5'Flank|USP54_uc010qkl.1_Silent_p.E617E NM_152586 NP_689799 Q70EL1 UBP54_HUMAN Homo sapiens ubiquitin specific peptidase 54 (USP54), mRNA. 617 ubiquitin-dependent protein catabolic process protein binding|ubiquitin thiolesterase activity breast(5)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1) 30 Prostate(51;0.0112) GCTTGCTTGGTTCATCTGGTA 0.463000 OREG0020266 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 63 11 0 0 0.008291 0 0 ATP6V1H 51606 broad.mit.edu 37 8 54730003 54730003 + Missense_Mutation SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr8:54730003G>A uc003xrl.3 - 4 546 c.394C>T c.(394-396)Cgc>Tgc p.R132C ATP6V1H_uc003xrk.3_Missense_Mutation_p.R92C|ATP6V1H_uc003xrm.3_Missense_Mutation_p.R132C|ATP6V1H_uc003xrn.3_Missense_Mutation_p.R132C|ATP6V1H_uc011ldv.2_Missense_Mutation_p.R52C|ATP6V1H_uc010lyd.3_Missense_Mutation_p.R68C NM_213620 NP_998785 Q9UI12 VATH_HUMAN Homo sapiens ATPase, H+ transporting, lysosomal 50/57kDa, V1 subunit H (ATP6V1H), transcript variant 3, mRNA. 132 ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|endocytosis|insulin receptor signaling pathway|interspecies interaction between organisms|regulation of defense response to virus by virus|transferrin transport|vacuolar acidification|viral reproduction cytosol|plasma membrane|vacuolar proton-transporting V-type ATPase, V1 domain enzyme regulator activity|protein binding|proton-transporting ATPase activity, rotational mechanism endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|urinary_tract(1) 18 all_epithelial(80;0.0487)|Lung NSC(129;0.109)|all_lung(136;0.181) OV - Ovarian serous cystadenocarcinoma(7;2.79e-06)|Epithelial(17;0.000629)|all cancers(17;0.00359) GGATCCTGGCGATTCAACATT 0.368000 35 7 0 0 0.001984 0 0 SCARA3 51435 broad.mit.edu 37 8 27516292 27516292 + Missense_Mutation SNP T G G TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr8:27516292T>G uc003xga.1 + 4 746 c.605T>G c.(604-606)cTg>cGg p.L202R SCARA3_uc003xgb.1_Missense_Mutation_p.L202R NM_016240 NP_057324 Q6AZY7 SCAR3_HUMAN Homo sapiens scavenger receptor class A, member 3 (SCARA3), transcript variant 1, mRNA. 202 UV protection|response to oxidative stress Golgi membrane|collagen|endoplasmic reticulum membrane|integral to membrane scavenger receptor activity breast(1)|large_intestine(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1) 9 Ovarian(32;2.61e-05) UCEC - Uterine corpus endometrioid carcinoma (27;0.0219)|Colorectal(74;0.148) ACAGCTGGCCTGGACCTCTCT 0.602000 21 6 0 0 0.001168 0 0 GJA4 2701 broad.mit.edu 37 1 35260119 35260119 + Missense_Mutation SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr1:35260119G>A uc009vul.3 + 1 557 c.533G>A c.(532-534)cGa>cAa p.R178Q GJA4_uc001bya.3_Missense_Mutation_p.R102Q|GJA4_uc009vum.1_Missense_Mutation_p.R102Q|GJA4_uc021olb.1_Missense_Mutation_p.R102Q NM_002060 NP_002051 P35212 CXA4_HUMAN Homo sapiens gap junction protein, alpha 4, 37kDa (GJA4), mRNA. 102 cell-cell junction assembly integral to plasma membrane NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(4)|stomach(1) 14 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234) CTGTCTCGGCGAGAAGAGCGG 0.662000 36 6 0 0 0.001984 0 0 LRRC37A11P 342666 broad.mit.edu 37 17 37187597 37187597 + RNA SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr17:37187597C>T uc002hrd.1 + 0 c.1439C>T Homo sapiens FLJ43826 protein (FLJ43826), non-coding RNA. TCAGGAGACCCCAACTTAGCC 0.507000 55 13 0 0 0.013537 0 0 ARHGAP31 57514 broad.mit.edu 37 3 119133527 119133527 + Silent SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr3:119133527C>T uc003ecj.4 + 11 3283 c.2751C>T c.(2749-2751)ccC>ccT p.P917P NM_020754 NP_065805 Q2M1Z3 RHG31_HUMAN Homo sapiens Rho GTPase activating protein 31 (ARHGAP31), mRNA. 917 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|focal adhesion|lamellipodium GTPase activator activity breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 67 TGACGAGTCCCCTTCACTCTC 0.607000 85 22 0 0 0.002780 0 0 EIF4G3 8672 broad.mit.edu 37 1 21205977 21205977 + Missense_Mutation SNP A C C TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr1:21205977A>C uc001bec.3 - 14 2549 c.2293T>G c.(2293-2295)Ttg>Gtg p.L765V EIF4G3_uc010odi.2_Missense_Mutation_p.L369V|EIF4G3_uc010odj.2_Missense_Mutation_p.L764V|EIF4G3_uc009vpz.3_Missense_Mutation_p.L485V|EIF4G3_uc001bef.3_Missense_Mutation_p.L801V|EIF4G3_uc001bee.3_Missense_Mutation_p.L771V NM_003760 NP_003751 O43432 IF4G3_HUMAN Homo sapiens eukaryotic translation initiation factor 4 gamma, 3 (EIF4G3), transcript variant 3, mRNA. 765 MIF4G.|eIF3/EIF4A-binding (By similarity). RNA metabolic process|interspecies interaction between organisms|regulation of translational initiation eukaryotic translation initiation factor 4F complex RNA cap binding|protein binding|translation initiation factor activity endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3) 70 all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256) UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191) TGTGGTGTCAATTTATTTAAG 0.383000 171 42 0 0 0.008740 0 0 SEMA7A 8482 broad.mit.edu 37 15 74708937 74708937 + Silent SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr15:74708937G>A uc002axv.3 - 6 820 c.780C>T c.(778-780)tcC>tcT p.S260S SEMA7A_uc010ulk.2_Silent_p.S95S|SEMA7A_uc010ull.2_Silent_p.S246S NM_003612 NP_001139502 O75326 SEM7A_HUMAN Homo sapiens semaphorin 7A, GPI membrane anchor (John Milton Hagen blood group) (SEMA7A), transcript variant 1, mRNA. 260 Sema. axon guidance|immune response|inflammatory response|integrin-mediated signaling pathway|positive regulation of ERK1 and ERK2 cascade|positive regulation of axon extension|positive regulation of macrophage cytokine production|regulation of inflammatory response anchored to membrane|external side of plasma membrane receptor activity breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(3)|lung(12)|upper_aerodigestive_tract(1) 30 GGGCCACACGGGACACATTGA 0.557000 46 9 0 0 0.004482 0 0 ARSI 340075 broad.mit.edu 37 5 149677766 149677766 + Missense_Mutation SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr5:149677766G>A uc003lrv.2 - 1 1310 c.721C>T c.(721-723)Ccc>Tcc p.P241S NM_001012301 NP_001012301 Q5FYB1 ARSI_HUMAN Homo sapiens arylsulfatase family, member I (ARSI), mRNA. 241 endoplasmic reticulum|extracellular region arylsulfatase activity|metal ion binding central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1) 23 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) GACTGCAGGGGTGTGTGTACT 0.622000 51 9 0 0 0.008291 0 0 PTPRF 5792 broad.mit.edu 37 1 44087635 44087635 + Silent SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr1:44087635C>T uc001cjr.3 + 33 6025 c.5685C>T c.(5683-5685)gcC>gcT p.A1895A PTPRF_uc001cjs.3_Silent_p.A1886A|PTPRF_uc001cju.3_Silent_p.A1284A|PTPRF_uc009vwt.3_Silent_p.A1455A|PTPRF_uc001cjv.3_Silent_p.A1366A|PTPRF_uc001cjw.3_Silent_p.A1121A NM_002840 NP_002831 P10586 PTPRF_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, F (PTPRF), transcript variant 1, mRNA. 1895 Tyrosine-protein phosphatase 2. transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane transmembrane receptor protein tyrosine phosphatase activity p.H1894N(1) NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3) 72 all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0333) ACCGTGCGGCCCTGGAGTACC 0.652000 59 16 0 0 0.003163 0 0 MEIS2 4212 broad.mit.edu 37 15 37390313 37390313 + Missense_Mutation SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr15:37390313G>A uc001zjr.3 - 1 1174 c.100C>T c.(100-102)Ccc>Tcc p.P34S MEIS2_uc001zjl.3_Missense_Mutation_p.P21S|MEIS2_uc010ucj.2_Missense_Mutation_p.P21S|MEIS2_uc001zjm.3_5'UTR|MEIS2_uc001zjn.3_5'UTR|MEIS2_uc001zjo.3_Missense_Mutation_p.P34S|MEIS2_uc001zjp.3_Missense_Mutation_p.P34S|MEIS2_uc001zjs.3_Missense_Mutation_p.P34S|MEIS2_uc001zju.3_Missense_Mutation_p.P21S|MEIS2_uc001zjt.3_Missense_Mutation_p.P34S NM_170675 NP_733775 O14770 MEIS2_HUMAN Homo sapiens Meis homeobox 2 (MEIS2), transcript variant c, mRNA. 34 negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 36 all_epithelial(112;9.77e-14)|Lung NSC(122;1.42e-09)|all_lung(180;2.2e-08)|Ovarian(310;0.134)|Melanoma(134;0.155) all cancers(64;9.33e-21)|GBM - Glioblastoma multiforme(113;1.71e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0288) TGAACCGGGGGGATCGGCCGC 0.677000 51 9 0 0 0.008291 0 0 MUC16 94025 broad.mit.edu 37 19 9010677 9010677 + Missense_Mutation SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr19:9010677C>T uc002mkp.3 - 37 39188 c.38984G>A c.(38983-38985)gGg>gAg p.G12995E MUC16_uc021uog.1_Intron NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 12997 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 GGATGGAGTCCCTGAGGTCCC 0.522000 38 8 0 0 0.004482 0 0 ZNF165 7718 broad.mit.edu 37 6 28056379 28056379 + Missense_Mutation SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr6:28056379G>A uc021yro.1 + 3 1416 c.589G>A c.(589-591)Gaa>Aaa p.E197K ZNF165_uc003nkh.3_Missense_Mutation_p.E197K|ZNF165_uc003nki.4_Missense_Mutation_p.E197K|ZSCAN12P1_uc003nkj.4_5'Flank NM_003447 NP_003438 P49910 ZN165_HUMAN Homo sapiens zinc finger protein 165 (ZNF165), mRNA. 197 viral reproduction 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(2)|large_intestine(1)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 GCCAAAGCTGGAAATTTTTGA 0.333000 72 11 0 0 0.010729 0 0 MUC16 94025 broad.mit.edu 37 19 9060313 9060313 + Missense_Mutation SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr19:9060313C>T uc002mkp.3 - 2 27337 c.27133G>A c.(27133-27135)Gga>Aga p.G9045R NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 9047 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 GGGCTAGGTCCTCTGCTAGAG 0.498000 59 6 0 0 0.001168 0 0 ASNSD1 54529 broad.mit.edu 37 2 190535171 190535171 + Missense_Mutation SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr2:190535171C>T uc002uqt.3 + 5 2085 c.1651C>T c.(1651-1653)Cct>Tct p.P551S NM_019048 NP_061921 Q9NWL6 ASND1_HUMAN Homo sapiens asparagine synthetase domain containing 1 (ASNSD1), mRNA. 551 Asparagine synthetase. asparagine biosynthetic process|glutamine metabolic process asparagine synthase (glutamine-hydrolyzing) activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(3) 25 OV - Ovarian serous cystadenocarcinoma(117;0.00318)|Epithelial(96;0.0449)|all cancers(119;0.118) TTTTAGATTTCCTTTCCTGGA 0.299000 44 7 0 0 0.004482 0 0 GABBR2 9568 broad.mit.edu 37 9 101125068 101125068 + Missense_Mutation SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr9:101125068C>T uc004ays.3 - 12 2282 c.1822G>A c.(1822-1824)Gac>Aac p.D608N NM_005458 NP_005449 O75899 GABR2_HUMAN Homo sapiens gamma-aminobutyric acid (GABA) B receptor, 2 (GABBR2), mRNA. 608 negative regulation of adenylate cyclase activity|synaptic transmission cell junction|integral to plasma membrane|postsynaptic membrane G-protein coupled receptor activity|GABA-B receptor activity NOTCH1_ENST00000277541/GABBR2(2) breast(4)|endometrium(4)|large_intestine(12)|lung(21)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1) 49 Acute lymphoblastic leukemia(62;0.0527) Baclofen(DB00181) ATACACAGGTCGATCAGCAGC 0.587000 38 8 0 0 0.003080 0 0 MAML2 84441 broad.mit.edu 37 11 95712580 95712580 + Silent SNP T C C TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr11:95712580T>C uc001pfw.1 - 4 4288 c.3003A>G c.(3001-3003)caA>caG p.Q1001Q NM_032427 NP_115803 Q8IZL2 MAML2_HUMAN Homo sapiens mastermind-like 2 (Drosophila) (MAML2), mRNA. 1001 Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear speck transcription coactivator activity CRTC3/MAML2(26)|CRTC1/MAML2(516) breast(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 43 Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837) CTACTGCCTGTTGCAGTGACT 0.522000 T """MECT1, CRTC3""" salivary gland mucoepidermoid 21 5 0 0 0.001168 0 0 BLK 640 broad.mit.edu 37 8 11407735 11407735 + Missense_Mutation SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr8:11407735G>A uc003wty.3 + 5 1017 c.436G>A c.(436-438)Ggc>Agc p.G146S NM_001715 NP_001706 P51451 BLK_HUMAN Homo sapiens B lymphoid tyrosine kinase (BLK), mRNA. 146 SH2. intracellular protein kinase cascade|positive regulation of insulin secretion ATP binding|non-membrane spanning protein tyrosine kinase activity endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(4)|stomach(1) 27 STAD - Stomach adenocarcinoma(15;0.00391) COAD - Colon adenocarcinoma(149;0.207) CAACAAGGCCGGCTCCTTTCT 0.557000 76 23 0 0 0.006320 0 0 SAMD9 54809 broad.mit.edu 37 7 92731372 92731372 + Missense_Mutation SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr7:92731372G>A uc003umf.3 - 2 4309 c.4039C>T c.(4039-4041)Ctc>Ttc p.L1347F SAMD9_uc003umg.3_Missense_Mutation_p.L1347F|SAMD9_uc022ahg.1_Missense_Mutation_p.L1347F NM_017654 NP_060124 Q5K651 SAMD9_HUMAN Homo sapiens sterile alpha motif domain containing 9 (SAMD9), transcript variant 1, mRNA. 1347 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) TATTCCAAGAGCCCAGAAAAC 0.368000 108 19 0 0 0.006122 0 0 FLT1 2321 broad.mit.edu 37 13 28893576 28893576 + Nonsense_Mutation SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr13:28893576C>T uc001usb.3 - 23 3555 c.3270G>A c.(3268-3270)tgG>tgA p.W1090* FLT1_uc010aap.2_Nonsense_Mutation_p.W95*|FLT1_uc010aaq.2_Nonsense_Mutation_p.W215*|FLT1_uc001usa.3_Nonsense_Mutation_p.W308* 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. 1090 Protein kinase. 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.L1089L(1) 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) AGAAGATTTCCCACAGCAATA 0.433000 19 3 0 0 0.009096 0 0 IGF2R 3482 broad.mit.edu 37 6 160525776 160525776 + Missense_Mutation SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr6:160525776C>T uc003qta.3 + 47 7284 c.7136C>T c.(7135-7137)cCa>cTa p.P2379L NM_000876 NP_000867 P11717 MPRI_HUMAN Homo sapiens insulin-like growth factor 2 receptor (IGF2R), mRNA. 2379 receptor-mediated endocytosis cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 95 Breast(66;0.000777)|Ovarian(120;0.0305) OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05) CTGCCTCCTCCACGGCAGGGA 0.542000 43 14 0 0 0.002450 0 0 KRT10 3858 broad.mit.edu 37 17 38975971 38975971 + Missense_Mutation SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr17:38975971C>T uc002hvi.3 - 5 1197 c.1171G>A c.(1171-1173)Gcc>Acc p.A391T TMEM99_uc021txc.1_Intron|TMEM99_uc002hvj.1_Intron|TMEM99_uc021txd.1_Intron NM_000421 NP_000412 P13645 K1C10_HUMAN Homo sapiens keratin 10 (KRT10), mRNA. 391 Coil 2.|Gly-rich.|Rod. epidermis development protein binding|structural constituent of epidermis NS(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1) 11 Breast(137;0.000301) GCCAAGGAGGCTTCCAGGGAT 0.443000 48 6 0 0 0.003080 0 0 RAI1 10743 broad.mit.edu 37 17 17698654 17698654 + Missense_Mutation SNP C T T rs148947371 TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr17:17698654C>T uc002grm.3 + 2 2861 c.2392C>T c.(2392-2394)Ccc>Tcc p.P798S RAI1_uc002grn.1_Missense_Mutation_p.P798S NM_030665 NP_109590 Q7Z5J4 RAI1_HUMAN Homo sapiens retinoic acid induced 1 (RAI1), mRNA. 798 cytoplasm|nucleus zinc ion binding breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7) 48 READ - Rectum adenocarcinoma(1115;0.0276) GGAGGAGGACCCCCCTGGGGA 0.667000 23 8 0 0 0.003080 0 0 ABCA12 26154 broad.mit.edu 37 2 215845306 215845306 + Silent SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr2:215845306G>A uc002vew.3 - 30 4861 c.4641C>T c.(4639-4641)atC>atT p.I1547I ABCA12_uc002vev.3_Silent_p.I1229I|ABCA12_uc010zjn.2_Silent_p.I474I NM_173076 NP_775099 Q86UK0 ABCAC_HUMAN Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 12 (ABCA12), transcript variant 1, mRNA. 1547 ABC transporter 1. cellular homeostasis|lipid transport integral to membrane ATP binding|ATPase activity p.R1546H(1) NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 139 Renal(323;0.127) Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011) CCAGGAAGGCGATGCGGTCAC 0.517000 87 12 0 0 0.010729 0 0 FAM83C 128876 broad.mit.edu 37 20 33875020 33875020 + Missense_Mutation SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr20:33875020C>T uc021wck.1 - 3 1680 c.1562G>A c.(1561-1563)gGa>gAa p.G521E EIF6_uc002xbv.1_5'Flank|EIF6_uc002xbx.1_5'Flank|EIF6_uc002xbz.1_5'Flank|EIF6_uc002xby.1_5'Flank|FAM83C_uc002xcb.1_Missense_Mutation_p.G176E NM_178468 NP_848563 Q9BQN1 FA83C_HUMAN Homo sapiens family with sequence similarity 83, member C (FAM83C), mRNA. 521 p.V520V(1) central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 40 BRCA - Breast invasive adenocarcinoma(18;0.00252) GTCAGGGTCTCCCACTTCTCG 0.642000 60 18 0 0 0.008871 0 0 EFCAB4B 84766 broad.mit.edu 37 12 3805956 3805956 + Silent SNP G A A rs139345952 byFrequency TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr12:3805956G>A uc010sen.1 - 3 782 c.210C>T c.(208-210)atC>atT p.I70I EFCAB4B_uc001qmj.2_Silent_p.I70I NM_001144958 NP_001138430 Q9BSW2 EFC4B_HUMAN Homo sapiens EF-hand calcium binding domain 4B (EFCAB4B), transcript variant 1, mRNA. 70 EF-hand 1. activation of store-operated calcium channel activity|store-operated calcium entry cytoplasm calcium ion binding|protein binding breast(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1) 24 OV - Ovarian serous cystadenocarcinoma(31;0.00287)|COAD - Colon adenocarcinoma(12;0.0264) CCTTCCTGGCGATGAAGCCCT 0.567000 47 6 0 0 0.003080 0 0 FAM131A 131408 broad.mit.edu 37 3 184062652 184062653 + Missense_Mutation DNP GC TT TT TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr3:184062652_184062653GC>TT uc003foe.3 + 5 1138_1139 c.995_996GC>TT c.(994-996)tgc>tTT p.C332F FAM131A_uc003foc.3_Missense_Mutation_p.C247F|FAM131A_uc003fog.3_Missense_Mutation_p.C301F NM_144635 NP_001164564 Q6UXB0 F131A_HUMAN Homo sapiens family with sequence similarity 131, member A (FAM131A), transcript variant 1, mRNA. 301 extracellular region breast(1)|endometrium(1)|large_intestine(2)|lung(9)|skin(1) 14 all_cancers(143;1.06e-10)|Ovarian(172;0.0339) Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) CAGCCACTCTGCCCACCACTAA 0.644000 32 10 0 0 0.004672 0 0 KPNA1 3836 broad.mit.edu 37 3 122156098 122156098 + Silent SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr3:122156098C>T uc003efe.2 - 10 1229 c.1041G>A c.(1039-1041)ctG>ctA p.L347L KPNA1_uc003efb.1_Silent_p.L146L|KPNA1_uc003efc.1_Silent_p.L146L|KPNA1_uc011bjr.1_Silent_p.L146L|KPNA1_uc010hrh.2_Silent_p.L146L NM_002264 NP_002255 P52294 IMA1_HUMAN Homo sapiens karyopherin alpha 1 (importin alpha 5) (KPNA1), transcript variant 1, mRNA. 347 Binding to RAG1.|NLS binding site (minor) (By similarity). DNA fragmentation involved in apoptotic nuclear change|NLS-bearing substrate import into nucleus|regulation of DNA recombination|viral genome transport in host cell|viral infectious cycle cytosol|nuclear pore|nucleoplasm nuclear localization sequence binding|protein binding|protein transporter activity NS(1)|breast(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 21 GBM - Glioblastoma multiforme(114;0.0898) TTGGGCTACTCAGCAAATGCA 0.343000 56 13 0 0 0.001855 0 0 COL6A3 1293 broad.mit.edu 37 2 238244917 238244917 + Silent SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr2:238244917C>T uc002vwl.2 - 39 9111 c.8826G>A c.(8824-8826)gcG>gcA p.A2942A COL6A3_uc002vwo.2_Silent_p.A2736A|COL6A3_uc010znj.1_Silent_p.A2335A|COL6A3_uc002vwj.2_Silent_p.A323A NM_004369 NP_004360 P12111 CO6A3_HUMAN Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA. 2942 Ala-rich.|Nonhelical region. axon guidance|cell adhesion|muscle organ development collagen type VI|extracellular space serine-type endopeptidase inhibitor activity p.A2942A(2) 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) CTACAGGCTTCGCTGCCGTTG 0.632000 80 20 0 0 0.014323 0 0 ATMIN 23300 broad.mit.edu 37 16 81077221 81077221 + Missense_Mutation SNP A G G TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr16:81077221A>G uc002ffz.1 + 3 1136 c.1118A>G c.(1117-1119)aAt>aGt p.N373S ATMIN_uc002fga.2_Missense_Mutation_p.N215S|ATMIN_uc010vnn.1_Missense_Mutation_p.N144S|ATMIN_uc002fgb.1_Missense_Mutation_p.N215S NM_015251 NP_056066 O43313 ATMIN_HUMAN Homo sapiens ATM interactor (ATMIN), mRNA. 373 Required for formation of RAD51 foci. response to DNA damage stimulus nucleus zinc ion binding breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 20 AAAATTGCTAATCCTATTGCT 0.433000 61 8 0 0 0.003080 0 0 SIGLEC5 8778 broad.mit.edu 37 19 52131315 52131315 + Missense_Mutation SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr19:52131315G>A uc002pxe.3 - 4 908 c.769C>T c.(769-771)Ctt>Ttt p.L257F NM_003830 NP_003821 O15389 SIGL5_HUMAN Homo sapiens sialic acid binding Ig-like lectin 5 (SIGLEC5), mRNA. 257 Ig-like C2-type 2. cell adhesion integral to membrane sugar binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(9)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 27 all_neural(266;0.0726) GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0218) AGGACCGGAAGGTATGAGGTG 0.622000 65 14 0 0 0.002450 0 0 TTN 7273 broad.mit.edu 37 2 179582511 179582511 + Nonsense_Mutation SNP T A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr2:179582511T>A uc021vsy.1 - 83 21583 c.21358A>T c.(21358-21360)Aga>Tga p.R7120* TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Nonsense_Mutation_p.R3781* NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 8047 Ig-like 53. 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) TTCAGTTTTCTTGCAAAGAAA 0.408000 12 7 0 0 0.001984 0 0 GPR98 84059 broad.mit.edu 37 5 90041427 90041427 + Missense_Mutation SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr5:90041427G>A uc003kju.3 + 51 10885 c.10789G>A c.(10789-10791)Gaa>Aaa p.E3597K GPR98_uc003kjt.3_Missense_Mutation_p.E1303K|GPR98_uc003kjv.3_Missense_Mutation_p.E1197K NM_032119 NP_115495 Q8WXG9 GPR98_HUMAN Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA. 3597 Calx-beta 23. cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane G-protein coupled receptor activity|calcium ion binding p.E3597K(2) NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6) 269 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) ACTGATATTTGAACCTGGTGA 0.313000 46 9 0 0 0.004482 0 0 SPHKAP 80309 broad.mit.edu 37 2 228884687 228884687 + Missense_Mutation SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr2:228884687C>T uc002vpq.2 - 6 930 c.883G>A c.(883-885)Gcc>Acc p.A295T SPHKAP_uc002vpp.2_Missense_Mutation_p.A295T|SPHKAP_uc010zlx.1_Missense_Mutation_p.A295T NM_001142644 NP_001136116 Q2M3C7 SPKAP_HUMAN Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA. 295 cytoplasm protein binding p.T294T(1) NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 185 Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23) Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232) CTCTGCAAGGCTGTGTTCTTT 0.418000 129 44 0 0 0.013114 0 0 DCTN4 51164 broad.mit.edu 37 5 150112930 150112930 + Splice_Site SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr5:150112930C>T uc010jhi.3 - 5 639 c.537_splice c.e5+1 p.S179_splice DCTN4_uc003lsu.3_Splice_Site_p.S122_splice|DCTN4_uc003lsv.3_Splice_Site_p.S179_splice|DCTN4_uc010jhj.2_Splice_Site|DCTN4_uc011dck.1_Splice_Site_p.S122_splice NM_001135643 NP_001129115 Q9UJW0 DCTN4_HUMAN Homo sapiens dynactin 4 (p62) (DCTN4), transcript variant 1, mRNA. 179 centrosome|nucleus protein N-terminus binding p.S179S(1) breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1) 10 Medulloblastoma(196;0.167) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) AAATTCTCACCGAAAAAGCCA 0.413000 41 12 0 0 0.013537 0 0 MUC16 94025 broad.mit.edu 37 19 9082421 9082421 + Missense_Mutation SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr19:9082421C>T uc002mkp.3 - 0 9598 c.9394G>A c.(9394-9396)Gaa>Aaa p.E3132K NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 3133 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 GCTGTGGGTTCTGTGGGAGAA 0.483000 113 33 0 0 0.013726 0 0 C3orf20 84077 broad.mit.edu 37 3 14725854 14725854 + Missense_Mutation SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr3:14725854G>A uc003byy.3 + 3 1042 c.590G>A c.(589-591)gGg>gAg p.G197E C3orf20_uc003byz.3_Missense_Mutation_p.G75E|C3orf20_uc003bza.3_Missense_Mutation_p.G75E|C3orf20_uc003byx.2_Missense_Mutation_p.G197E NM_032137 NP_001171887 Q8ND61 CC020_HUMAN Homo sapiens chromosome 3 open reading frame 20 (C3orf20), transcript variant 1, mRNA. 197 cytoplasm|integral to membrane NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(13)|lung(11)|ovary(4)|skin(2) 40 AGCACAGCCGGGAGAAGTGGC 0.547000 53 18 0 0 0.007413 0 0 GRID2 2895 broad.mit.edu 37 4 94377028 94377028 + Silent SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr4:94377028G>A uc011cdt.2 + 10 2019 c.1761G>A c.(1759-1761)ttG>ttA p.L587L GRID2_uc011cdu.2_Silent_p.L492L NM_001510 NP_001501 O43424 GRID2_HUMAN Homo sapiens glutamate receptor, ionotropic, delta 2 (GRID2), mRNA. 587 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) TCTACCTCTTGAACTGGCTTA 0.453000 85 26 0 0 0.006320 0 0 CCDC108 255101 broad.mit.edu 37 2 219883791 219883791 + Missense_Mutation SNP C T T rs147747619 TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr2:219883791C>T uc002vjl.1 - 20 3668 c.3584G>A c.(3583-3585)gGa>gAa p.G1195E CCDC108_uc002vjm.3_Missense_Mutation_p.G80E NM_194302 NP_919278 Q6ZU64 CC108_HUMAN Homo sapiens coiled-coil domain containing 108 (CCDC108), transcript variant 1, mRNA. 1195 integral to membrane structural molecule activity autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 80 Renal(207;0.0915) Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) GGACACCACTCCGCTGTTCTT 0.597000 106 16 0 0 0.004007 0 0 GNRH2 2797 broad.mit.edu 37 20 3026366 3026366 + Missense_Mutation SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr20:3026366C>T uc002whr.1 + 3 398 c.347C>T c.(346-348)tCc>tTc p.S116F GNRH2_uc002whp.1_Missense_Mutation_p.S109F|GNRH2_uc002whq.1_Missense_Mutation_p.S108F|GNRH2_uc010gau.1_Missense_Mutation_p.S116F|MRPS26_uc002whs.3_5'Flank NM_001501 NP_001492 O43555 GON2_HUMAN Homo sapiens gonadotropin-releasing hormone 2 (GNRH2), transcript variant 1, mRNA. 116 multicellular organismal development|signal transduction extracellular region|soluble fraction hormone activity ovary(1)|upper_aerodigestive_tract(1) 2 GCCCCGCCATCCTCCAATAAA 0.647000 58 12 0 0 0.006122 0 0 EPX 8288 broad.mit.edu 37 17 56272400 56272400 + Missense_Mutation SNP T C C TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr17:56272400T>C uc002ivq.3 + 5 789 c.670T>C c.(670-672)Ttc>Ctc p.F224L NM_000502 NP_000493 P11678 PERE_HUMAN Homo sapiens eosinophil peroxidase (EPX), mRNA. 224 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 AGCCCTCATGTTCATGCAGTG 0.602000 34 5 0 0 0.000602 0 0 BACH2 60468 broad.mit.edu 37 6 90718397 90718397 + Missense_Mutation SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr6:90718397G>A uc011eab.2 - 5 1041 c.167C>T c.(166-168)gCc>gTc p.A56V BACH2_uc003pnw.3_Missense_Mutation_p.A56V|BACH2_uc010kch.3_Missense_Mutation_p.A56V NM_021813 NP_068585 Q9BYV9 BACH2_HUMAN Homo sapiens BTB and CNC homology 1, basic leucine zipper transcription factor 2 (BACH2), transcript variant 1, mRNA. 56 BTB. nucleus protein dimerization activity|sequence-specific DNA binding central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1) 45 all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063) BRCA - Breast invasive adenocarcinoma(108;0.0799) ACTGCATGCGGCCAGCACAGC 0.512000 78 12 0 0 0.013537 0 0 OR6C3 254786 broad.mit.edu 37 12 55725574 55725574 + Silent SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr12:55725574C>T uc010spj.2 + 0 90 c.90C>T c.(88-90)atC>atT p.I30I NM_054104 NP_473445 Q9NZP0 OR6C3_HUMAN Homo sapiens olfactory receptor, family 6, subfamily C, member 3 (OR6C3), mRNA. 30 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)|skin(2) 11 TTTTATTTATCACGTATATAT 0.418000 94 17 0 0 0.004990 0 0 LTN1 26046 broad.mit.edu 37 21 30357190 30357190 + Silent SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr21:30357190G>A uc002ymr.2 - 3 550 c.537C>T c.(535-537)atC>atT p.I179I LTN1_uc010gll.1_Non-coding_Transcript NM_015565 NP_056380 O94822 LTN1_HUMAN Homo sapiens listerin E3 ubiquitin protein ligase 1 (LTN1), mRNA. 133 ligase activity|zinc ion binding NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2) 60 TTACTTTAAGGATAAGTTTTT 0.373000 32 9 0 0 0.006214 0 0 C14orf39 317761 broad.mit.edu 37 14 60921816 60921816 + Missense_Mutation SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr14:60921816G>A uc001xez.4 - 15 1516 c.1406C>T c.(1405-1407)tCc>tTc p.S469F C14orf39_uc010apo.3_Missense_Mutation_p.S180F NM_174978 NP_777638 Q08AQ4 Q08AQ4_HUMAN Homo sapiens chromosome 14 open reading frame 39 (C14orf39), mRNA. 469 breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 OV - Ovarian serous cystadenocarcinoma(108;0.0448) AAGTCCAGGGGATTCCTTTTC 0.294000 58 10 0 0 0.008291 0 0 MMP17 4326 broad.mit.edu 37 12 132323164 132323164 + Silent SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr12:132323164C>T uc001ujc.1 + 2 399 c.300C>T c.(298-300)gcC>gcT p.A100A MMP17_uc001ujd.1_Silent_p.A16A NM_016155 NP_057239 Q9ULZ9 MMP17_HUMAN Homo sapiens matrix metallopeptidase 17 (membrane-inserted) (MMP17), mRNA. 100 proteolysis anchored to membrane|integral to plasma membrane|proteinaceous extracellular matrix calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding endometrium(1)|large_intestine(3)|lung(1) 5 all_neural(191;0.0982)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.82e-07)|Epithelial(86;1.51e-06)|all cancers(50;2.35e-05) CAGACGAGGCCACCCTGGCCC 0.662000 20 5 0 0 0.001168 0 0 PCDH11X 27328 broad.mit.edu 37 X 91090780 91090780 + Missense_Mutation SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chrX:91090780C>T uc004efk.2 + 0 1122 c.277C>T c.(277-279)Cgt>Tgt p.R93C PCDH11X_uc004efl.2_Missense_Mutation_p.R93C|PCDH11X_uc010nmv.2_Missense_Mutation_p.R93C|PCDH11X_uc004efm.2_Missense_Mutation_p.R93C|PCDH11X_uc004efn.2_Missense_Mutation_p.R93C|PCDH11X_uc004efo.2_Missense_Mutation_p.R93C|PCDH11X_uc004efh.2_Missense_Mutation_p.R93C|PCDH11X_uc004efj.1_Missense_Mutation_p.R93C NM_032968 NP_116750 Q9BZA7 PC11X_HUMAN Homo sapiens protocadherin 11 X-linked (PCDH11X), transcript variant c, mRNA. 93 Cadherin 1. homophilic cell adhesion integral to plasma membrane calcium ion binding NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 159 TCGCATTGATCGTGAGAAATT 0.443000 78 41 0 0 0.009718 0 0 SLCO1B1 10599 broad.mit.edu 37 12 21329826 21329826 + Missense_Mutation SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr12:21329826G>A uc001req.4 + 4 580 c.476G>A c.(475-477)gGa>gAa p.G159E NM_006446 NP_006437 Q9Y6L6 SO1B1_HUMAN Homo sapiens solute carrier organic anion transporter family, member 1B1 (SLCO1B1), mRNA. 159 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) GAGATAGTGGGAAAAGGTAAG 0.259000 37 6 0 0 0.001984 0 0 ARHGEF40 55701 broad.mit.edu 37 14 21550559 21550559 + Silent SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr14:21550559C>T uc001vzp.3 + 14 3437 c.3408C>T c.(3406-3408)ttC>ttT p.F1136F ARHGEF40_uc001vzo.1_Silent_p.F215F|ARHGEF40_uc010aij.3_Non-coding_Transcript|ARHGEF40_uc010tln.2_Silent_p.F422F NM_018071 NP_060541 Q8TER5 ARH40_HUMAN Homo sapiens Rho guanine nucleotide exchange factor (GEF) 40 (ARHGEF40), mRNA. 1136 DH. regulation of Rho protein signal transduction cytoplasm Rho guanyl-nucleotide exchange factor activity large_intestine(4)|ovary(3)|upper_aerodigestive_tract(2) 9 TTCGCAGCTTCCACCGGACAC 0.652000 38 4 0 0 0.009096 0 0 SAG 6295 broad.mit.edu 37 2 234247353 234247353 + Missense_Mutation SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr2:234247353G>A uc002vuh.2 + 11 1364 c.976G>A c.(976-978)Gga>Aga p.G326R SAG_uc010zmq.1_Missense_Mutation_p.G192R NM_000541 NP_000532 P10523 ARRS_HUMAN Homo sapiens S-antigen; retina and pineal gland (arrestin) (SAG), mRNA. 326 rhodopsin mediated phototransduction|rhodopsin mediated signaling pathway protein phosphatase inhibitor activity cervix(1)|kidney(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 9 Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.018)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.054) Epithelial(121;2.86e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00608)|Lung(119;0.00714)|GBM - Glioblastoma multiforme(43;0.207) GACCGTCCTGGGAATCCTGGT 0.552000 68 13 0 0 0.004007 0 0 RMND5A 64795 broad.mit.edu 37 2 86979111 86979111 + Silent SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr2:86979111C>T uc002srr.2 + 2 755 c.378C>T c.(376-378)ttC>ttT p.F126F RMND5A_uc002srs.4_Intron NM_022780 NP_073617 Q9H871 RMD5A_HUMAN Homo sapiens required for meiotic nuclear division 5 homolog A (S. cerevisiae) (RMND5A), mRNA. 126 LisH. kidney(1)|liver(2)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 17 TGGAGCACTTCTTTCGACAAG 0.483000 40 5 0 0 0.001168 0 0 LRP2 4036 broad.mit.edu 37 2 170055365 170055365 + Missense_Mutation SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr2:170055365G>A uc002ues.3 - 44 8722 c.8509C>T c.(8509-8511)Cct>Tct p.P2837S NM_004525 NP_004516 P98164 LRP2_HUMAN Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA. 2837 LDL-receptor class A 19. hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome SH3 domain binding|calcium ion binding|receptor activity biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13) 315 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) TAAACGCGAGGAATACAAATA 0.358000 17 8 0 0 0.004482 0 0 TLR4 7099 broad.mit.edu 37 9 120470847 120470847 + Missense_Mutation SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr9:120470847C>T uc004bjz.3 + 1 391 c.100C>T c.(100-102)Cct>Tct p.P34S TLR4_uc004bkb.3_Intron|TLR4_uc004bka.3_5'UTR NM_138554 NP_612564 O00206 TLR4_HUMAN Homo sapiens toll-like receptor 4 (TLR4), transcript variant 1, mRNA. 34 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 p.P34S(2) 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 GCAGGTGGTTCCTAATATTAC 0.463000 53 16 0 0 0.004007 0 0 RSPO2 340419 broad.mit.edu 37 8 109001381 109001381 + Silent SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr8:109001381G>A uc003yms.3 - 2 844 c.186C>T c.(184-186)ttC>ttT p.F62F RSPO2_uc003ymq.3_5'UTR|RSPO2_uc003ymr.3_Intron NM_178565 NP_848660 Q6UXX9 RSPO2_HUMAN Homo sapiens R-spondin 2 (RSPO2), mRNA. 62 Wnt receptor signaling pathway extracellular region heparin binding p.F62S(1) EIF3E/RSPO2(6) haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3) 28 OV - Ovarian serous cystadenocarcinoma(57;1.55e-09) CTCTTCGAAGGAAGAAGAACA 0.473000 44 8 0 0 0.003080 0 0 OR10AG1 282770 broad.mit.edu 37 11 55735289 55735289 + Silent SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr11:55735289C>T uc010rit.2 - 0 651 c.651G>A c.(649-651)ttG>ttA p.L217L NM_001005491 NP_001005491 Q8NH19 O10AG_HUMAN Homo sapiens olfactory receptor, family 10, subfamily AG, member 1 (OR10AG1), mRNA. 217 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(24)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 40 Esophageal squamous(21;0.0137) ATGACAATTTCAAAATGTTGG 0.393000 26 7 0 0 0.003080 0 0 OR8J1 219477 broad.mit.edu 37 11 56128027 56128027 + Missense_Mutation SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr11:56128027G>A uc010rjh.2 + 0 337 c.305G>A c.(304-306)gGa>gAa p.G102E NM_001005205 NP_001005205 Q8NGP2 OR8J1_HUMAN Homo sapiens olfactory receptor, family 8, subfamily J, member 1 (OR8J1), mRNA. 102 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 47 Esophageal squamous(21;0.00448) ACCCAACTGGGAGGGTTCTTG 0.413000 83 30 0 0 0.008361 0 0 TPTE 7179 broad.mit.edu 37 21 10920116 10920116 + Missense_Mutation SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr21:10920116C>T uc002yip.1 - 18 1506 c.1138G>A c.(1138-1140)Gaa>Aaa p.E380K TPTE_uc002yis.1_Non-coding_Transcript|TPTE_uc002yiq.1_Missense_Mutation_p.E362K|TPTE_uc002yir.1_Missense_Mutation_p.E342K|TPTE_uc010gkv.1_Missense_Mutation_p.E242K NM_199261 NP_954870 P56180 TPTE_HUMAN Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 1, mRNA. 380 Phosphatase tensin-type. signal transduction integral to membrane ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity p.E380K(1)|p.E362K(1) NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1) 130 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) TGAAATTTTTCGCTGTGGGTT 0.393000 63 8 0 0 0.004482 0 0 KIF18B 146909 broad.mit.edu 37 17 43009545 43009545 + Missense_Mutation SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr17:43009545C>T uc010wji.2 - 9 1405 c.1304G>A c.(1303-1305)gGg>gAg p.G435E KIF18B_uc002iht.3_Missense_Mutation_p.G435E|KIF18B_uc010wjh.2_Missense_Mutation_p.G423E 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) GGCTCTAGGCCCTGCAGGGAG 0.637000 41 11 0 0 0.010729 0 0 PMS2 5395 broad.mit.edu 37 7 6042238 6042238 + Missense_Mutation SNP G A A rs116373169 byFrequency TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr7:6042238G>A uc003spl.3 - 4 470 c.383C>T c.(382-384)tCg>tTg p.S128L PMS2_uc003spj.3_Missense_Mutation_p.S22L|PMS2_uc003spk.3_5'UTR|PMS2_uc011jwl.2_5'UTR|PMS2_uc010ktg.3_5'UTR|PMS2_uc010kte.3_Missense_Mutation_p.S128L|PMS2_uc010ktf.2_Missense_Mutation_p.S128L NM_000535 NP_000526 P54278 PMS2_HUMAN Homo sapiens PMS2 postmeiotic segregation increased 2 (S. cerevisiae) (PMS2), transcript variant 1, mRNA. 128 mismatch repair|reciprocal meiotic recombination|somatic hypermutation of immunoglobulin genes MutLalpha complex ATP binding|ATPase activity|endonuclease activity|protein binding|single base insertion or deletion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(11)|lung(13)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 46 Ovarian(82;0.0694) UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15) AACCTTCGCCGATGCGTGGCA 0.522000 """Mis, N, F""" """colorectal, endometrial, ovarian, medulloblastoma, glioma""" Direct reversal of damage;Mismatch excision repair (MMR) Turcot syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome 98 21 0 0 0.004656 0 0 OR9Q1 219956 broad.mit.edu 37 11 57947246 57947246 + Silent SNP C T T rs139179075 byFrequency TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr11:57947246C>T uc021qjm.1 + 0 330 c.330C>T c.(328-330)atC>atT p.I110I OR9Q1_uc001nmj.3_Silent_p.I110I NM_001005212 NP_001005212 Q8NGQ5 OR9Q1_HUMAN Homo sapiens olfactory receptor, family 9, subfamily Q, member 1 (OR9Q1), mRNA. 110 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 26 Breast(21;0.222) TTGGTTCCATCGACTGCTACC 0.562000 52 29 0 0 0.009535 0 0 GPR98 84059 broad.mit.edu 37 5 89990344 89990344 + Missense_Mutation SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr5:89990344G>A uc003kju.3 + 32 7867 c.7771G>A c.(7771-7773)Gaa>Aaa p.E2591K GPR98_uc003kjt.3_Missense_Mutation_p.E297K|GPR98_uc003kjv.3_Missense_Mutation_p.E191K NM_032119 NP_115495 Q8WXG9 GPR98_HUMAN Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA. 2591 cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane G-protein coupled receptor activity|calcium ion binding p.E2591D(1) NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6) 269 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) CAATACTTCCGAAGATGGCTT 0.458000 195 42 0 0 0.014410 0 0 BCLAF1 9774 broad.mit.edu 37 6 136599645 136599645 + Missense_Mutation SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr6:136599645G>A uc003qgx.1 - 3 627 c.374C>T c.(373-375)tCc>tTc p.S125F BCLAF1_uc003qgy.1_Missense_Mutation_p.S123F|BCLAF1_uc011edc.1_Non-coding_Transcript|BCLAF1_uc011edd.1_Non-coding_Transcript|BCLAF1_uc011ede.1_Missense_Mutation_p.S123F|BCLAF1_uc003qgw.1_Missense_Mutation_p.S125F NM_014739 NP_055554 Q9NYF8 BCLF1_HUMAN Homo sapiens BCL2-associated transcription factor 1 (BCLAF1), transcript variant 1, mRNA. 125 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) TCTGCTTCTGGATCTTTGAGA 0.448000 199 23 0 0 0.003330 0 0 CPEB3 22849 broad.mit.edu 37 10 93952255 93952255 + Missense_Mutation SNP T C C TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr10:93952255T>C uc001khw.2 - 2 1348 c.1144A>G c.(1144-1146)Atg>Gtg p.M382V CPEB3_uc001khu.2_Missense_Mutation_p.M382V|CPEB3_uc001khv.2_Intron|CPEB3_uc010qnn.2_Intron NM_014912 NP_055727 Q8NE35 CPEB3_HUMAN Homo sapiens cytoplasmic polyadenylation element binding protein 3 (CPEB3), transcript variant 1, mRNA. 382 RNA binding|nucleotide binding breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(2) 18 Colorectal(252;0.0869) TTCCTCCACATTATATCAGCG 0.373000 55 12 0 0 0.003163 0 0 IQSEC3 440073 broad.mit.edu 37 12 274620 274620 + Silent SNP G A A rs144152224 TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr12:274620G>A uc001qhw.2 + 9 2730 c.2730G>A c.(2728-2730)aaG>aaA p.K910K IQSEC3_uc001qhu.1_Silent_p.K607K NM_001170738 NP_001164209 Q9UPP2 IQEC3_HUMAN Homo sapiens IQ motif and Sec7 domain 3 (IQSEC3), transcript variant 1, mRNA. 910 PH. regulation of ARF protein signal transduction cytoplasm ARF guanyl-nucleotide exchange factor activity central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031) OV - Ovarian serous cystadenocarcinoma(31;0.00456) LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179) TTTGCCCGAAGAAGAAGAGCT 0.522000 134 36 0 0 0.007835 0 0 USP26 83844 broad.mit.edu 37 X 132160265 132160265 + Missense_Mutation SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chrX:132160265C>T uc011mvf.2 - 0 2036 c.1984G>A c.(1984-1986)Gaa>Aaa p.E662K USP26_uc010nrm.1_Missense_Mutation_p.E662K NM_031907 NP_114113 Q9BXU7 UBP26_HUMAN Homo sapiens ubiquitin specific peptidase 26 (USP26), mRNA. 662 protein deubiquitination|ubiquitin-dependent protein catabolic process nucleus cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3) 60 Acute lymphoblastic leukemia(192;0.000127) GAGGTATCTTCCAGATACGTC 0.428000 21 15 0 0 0.004990 0 0 SYNE1 23345 broad.mit.edu 37 6 152552588 152552588 + Missense_Mutation SNP C A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr6:152552588C>A uc021zhb.1 - 111 21200 c.20977G>T c.(20977-20979)Gct>Tct p.A6993S SYNE1_uc003qos.4_Missense_Mutation_p.A1517S|SYNE1_uc003qot.4_Missense_Mutation_p.A6922S|SYNE1_uc003qou.4_Missense_Mutation_p.A6993S NM_182961 NP_892006 Q8NF91 SYNE1_HUMAN Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA. 6993 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) AGTTGCTCAGCAAAATCAGTC 0.423000 HNSCC(10;0.0054) 49 9 3.09899e-07 3.38232e-07 0.004482 1 0 ITGAD 3681 broad.mit.edu 37 16 31419746 31419746 + Splice_Site SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr16:31419746G>A uc010cap.1 + 10 1059 c.1010_splice c.e10-1 p.G337_splice ITGAD_uc010vfl.1_Splice_Site|ITGAD_uc002ebv.1_Splice_Site_p.G337_splice|ITGAD_uc002ebw.1_Splice_Site NM_005353 NP_005344 Q13349 ITAD_HUMAN Homo sapiens integrin, alpha D (ITGAD), mRNA. 337 cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway integrin complex receptor activity breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 71 TTCCCCACAGGAACCCAGTCC 0.547000 34 5 0 0 0.000602 0 0 ERBB4 2066 broad.mit.edu 37 2 212495282 212495282 + Missense_Mutation SNP A G G TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr2:212495282A>G uc002veg.1 - 16 2082 c.1984T>C c.(1984-1986)Ttc>Ctc p.F662L ERBB4_uc002veh.1_Missense_Mutation_p.F662L|ERBB4_uc010zji.1_Missense_Mutation_p.F652L|ERBB4_uc010zjj.1_Missense_Mutation_p.F652L|ERBB4_uc010fut.1_Missense_Mutation_p.F662L NM_005235 NP_005226 Q15303 ERBB4_HUMAN Homo sapiens v-erb-a erythroblastic leukemia viral oncogene homolog 4 (avian) (ERBB4), transcript variant JM-a/CVT-1, mRNA. 662 cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway basolateral plasma membrane|cytoplasm|integral to membrane|nucleus ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity p.F662L(2)|p.L661V(1) NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 179 Renal(323;0.06)|Lung NSC(271;0.197) UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266) ACCAGAATGAAGAGCCCACCA 0.403000 TSP Lung(8;0.080) 65 20 0 0 0.012319 0 0 CUZD1 50624 broad.mit.edu 37 10 124593224 124593224 + Missense_Mutation SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr10:124593224G>A uc001lgs.3 - 9 2566 c.1615C>T c.(1615-1617)Cgt>Tgt p.R539C CUZD1_uc001lgp.3_Missense_Mutation_p.R258C|CUZD1_uc009yad.3_Missense_Mutation_p.R258C|CUZD1_uc009yaf.3_Missense_Mutation_p.R173C|CUZD1_uc001lgr.3_Missense_Mutation_p.R258C|CUZD1_uc010qty.2_Missense_Mutation_p.R258C|CUZD1_uc009yae.3_Missense_Mutation_p.R258C|CUZD1_uc010qtz.2_Missense_Mutation_p.R539C NM_022034 NP_071317 Q86UP6 CUZD1_HUMAN Homo sapiens CUB and zona pellucida-like domains 1 (CUZD1), transcript variant 1, mRNA. 539 cell cycle|cell division|cell proliferation|substrate-dependent cell migration, cell attachment to substrate|trypsinogen activation integral to membrane|transport vesicle membrane|zymogen granule membrane NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|stomach(1) 39 all_neural(114;0.169)|Glioma(114;0.222) Colorectal(40;0.126)|COAD - Colon adenocarcinoma(40;0.141) CTTTTCAGACGAATGGGTCCT 0.423000 97 26 0 0 0.008361 0 0 GLI3 2737 broad.mit.edu 37 7 42004227 42004227 + Missense_Mutation SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr7:42004227G>A uc011kbh.2 - 14 4535 c.4444C>T c.(4444-4446)Cca>Tca p.P1482S GLI3_uc011kbg.2_Missense_Mutation_p.P1423S NM_000168 NP_000159 P10071 GLI3_HUMAN Homo sapiens GLI family zinc finger 3 (GLI3), mRNA. 1482 negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis cilium|cytosol|nucleolus beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 112 TTAGCACCTGGGGAAAGTAAC 0.532000 Pallister-Hall syndrome;Greig Cephalopolysyndactyly 44 19 0 0 0.014323 0 0 PRR5-ARHGAP8 553158 broad.mit.edu 37 22 45218339 45218339 + Missense_Mutation SNP G A A rs55849456 byFrequency TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr22:45218339G>A uc003bfd.3 + 10 1382 c.1105G>A c.(1105-1107)Gaa>Aaa p.E369K PRR5-ARHGAP8_uc011aqi.2_Missense_Mutation_p.E281K|PRR5-ARHGAP8_uc011aqj.2_Missense_Mutation_p.E195K|PRR5-ARHGAP8_uc003bfi.3_Missense_Mutation_p.E159K|PRR5-ARHGAP8_uc010gzv.3_Missense_Mutation_p.E159K|PRR5-ARHGAP8_uc003bfj.3_Missense_Mutation_p.E190K|PRR5-ARHGAP8_uc003bfk.3_Missense_Mutation_p.E159K|PRR5-ARHGAP8_uc003bfl.3_Non-coding_Transcript NM_181335 NP_851852 Homo sapiens Rho GTPase activating protein 8 (ARHGAP8), transcript variant 2, mRNA. breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(10)|prostate(1)|skin(8) 30 CATCCCTCCCGAAGTTTTGCG 0.468000 59 13 0 0 0.013537 0 0 TMEM132A 54972 broad.mit.edu 37 11 60703807 60703807 + Missense_Mutation SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr11:60703807G>A uc001nqi.3 + 10 2696 c.2503G>A c.(2503-2505)Gag>Aag p.E835K TMEM132A_uc001nqj.3_Missense_Mutation_p.E834K NM_017870 NP_060340 Q24JP5 T132A_HUMAN Homo sapiens transmembrane protein 132A (TMEM132A), transcript variant 1, mRNA. 834 Binds to HSPA5/GRP78 (By similarity).|Confers cellular localization similar to full-length form (By similarity).|Glu-rich. Golgi membrane|endoplasmic reticulum membrane|integral to membrane breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3) 32 ggaagaggaggaggagATGGT 0.607000 107 40 0 0 0.008740 0 0 EIF2C4 192670 broad.mit.edu 37 1 36299718 36299718 + Missense_Mutation SNP A G G TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr1:36299718A>G uc001bzj.2 + 11 1697 c.1507A>G c.(1507-1509)Act>Gct p.T503A NM_017629 NP_060099 Q9HCK5 AGO4_HUMAN Homo sapiens eukaryotic translation initiation factor 2C, 4 (EIF2C4), mRNA. 503 mRNA catabolic process|negative regulation of translation involved in gene silencing by miRNA cytoplasmic mRNA processing body|cytosol RNA binding|protein binding breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 31 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) TCTGAAAATGACTTATGTGGG 0.453000 44 5 0 0 0.001168 0 0 SIK3 23387 broad.mit.edu 37 11 116732561 116732561 + Nonsense_Mutation SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr11:116732561G>A uc001ppy.3 - 16 2029 c.1993C>T c.(1993-1995)Cag>Tag p.Q665* SIK3_uc001ppz.3_Nonsense_Mutation_p.Q564*|SIK3_uc001pqa.3_Nonsense_Mutation_p.Q665*|SIK3_uc001ppw.3_Nonsense_Mutation_p.Q82*|SIK3_uc001ppx.3_Silent_p.S139S|SIK3_uc001pqb.3_5'Flank NM_025164 NP_079440 Q9Y2K2 SIK3_HUMAN Homo sapiens SIK family kinase 3 (SIK3), mRNA. 665 Gln-rich. 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 TCATACCTCTGGAGCTGATGG 0.488000 OREG0003492 type=REGULATORY REGION|Gene=BC035583|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 220 36 0 0 0.005524 0 0 NRP1 8829 broad.mit.edu 37 10 33545362 33545362 + Silent SNP T G G TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr10:33545362T>G uc001iwx.4 - 4 1219 c.696A>C c.(694-696)acA>acC p.T232T NRP1_uc001iwv.4_Silent_p.T232T|NRP1_uc001iwy.4_Silent_p.T232T|NRP1_uc009xlz.3_Silent_p.T232T|NRP1_uc001iww.4_Silent_p.T51T|NRP1_uc001iwz.2_Silent_p.T232T|NRP1_uc001ixa.2_Silent_p.T232T|NRP1_uc001ixb.2_Silent_p.T232T|NRP1_uc001ixc.1_Silent_p.T232T NM_003873 NP_003864 O14786 NRP1_HUMAN Homo sapiens neuropilin 1 (NRP1), transcript variant 1, mRNA. 232 CUB 2. axon guidance|cell adhesion|cell-cell signaling|organ morphogenesis|positive regulation of cell proliferation extracellular region|integral to membrane|plasma membrane growth factor binding|heparin binding|metal ion binding|vascular endothelial growth factor receptor activity NS(2)|breast(6)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(2) 48 Palifermin(DB00039)|Pegaptanib(DB04895) TTCGACCTGGTGTTTTCTGTC 0.473000 38 5 0 0 0.001168 0 0 APBA1 320 broad.mit.edu 37 9 72082853 72082853 + Silent SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr9:72082853G>A uc004ahh.2 - 4 1644 c.1368C>T c.(1366-1368)atC>atT p.I456I NM_001163 NP_001154 Q02410 APBA1_HUMAN Homo sapiens amyloid beta (A4) precursor protein-binding, family A, member 1 (APBA1), mRNA. 456 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 TGATTCCATCGATCAAGTCTT 0.562000 142 49 0 0 0.014410 0 0 PCDHAC2 56134 broad.mit.edu 37 5 140229995 140229995 + Missense_Mutation SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr5:140229995G>A uc003lhu.2 + 0 2639 c.1915G>A c.(1915-1917)Gaa>Aaa p.E639K 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_Missense_Mutation_p.E639K NM_031857 NP_114063 Q9Y5I4 PCDC2_HUMAN Homo sapiens protocadherin alpha 9 (PCDHA9), transcript variant 1, mRNA. 650 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) TGCCCTGGACGAAACGGACGC 0.667000 53 5 0 0 0.001168 0 0 TNFAIP6 7130 broad.mit.edu 37 2 152222575 152222575 + Missense_Mutation SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr2:152222575C>T uc002txk.3 + 2 313 c.238C>T c.(238-240)Cat>Tat p.H80Y FW340097_uc021vqy.1_Intron|MIR4773-1_uc021vqz.1_5'Flank NM_007115 NP_009046 P98066 TSG6_HUMAN Homo sapiens tumor necrosis factor, alpha-induced protein 6 (TNFAIP6), mRNA. 80 Link. cell adhesion|cell-cell signaling|inflammatory response|signal transduction hyaluronic acid binding endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 13 BRCA - Breast invasive adenocarcinoma(221;0.131) TGCAGGATTTCATGTCTGTGC 0.423000 97 21 0 0 0.002780 0 0 TNFSF4 7292 broad.mit.edu 37 1 173155672 173155672 + Missense_Mutation SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr1:173155672C>T uc001giw.3 - 2 691 c.535G>A c.(535-537)Gaa>Aaa p.E179K TNFSF4_uc001giv.3_Missense_Mutation_p.E129K NM_003326 NP_003317 P23510 TNFL4_HUMAN Homo sapiens tumor necrosis factor (ligand) superfamily, member 4 (TNFSF4), mRNA. 179 T-helper 2 cell activation|acute inflammatory response|cellular response to lipopolysaccharide|cellular response to prostaglandin E stimulus|chemokine (C-C motif) ligand 11 production|defense response to nematode|interleukin-4-dependent isotype switching to IgE isotypes|memory T cell activation|negative regulation of T-helper 1 cell differentiation|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of regulatory T cell differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|positive regulation of B cell activation|positive regulation of T cell cytokine production|positive regulation of T-helper 2 cell differentiation|positive regulation of alpha-beta T cell proliferation|positive regulation of immunoglobulin mediated immune response|positive regulation of immunoglobulin secretion|positive regulation of inflammatory response|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-13 production|positive regulation of interleukin-4 production|positive regulation of interleukin-6 production|positive regulation of memory T cell differentiation|positive regulation of type 2 immune response|response to virus|signal transduction cell surface|extracellular space|integral to plasma membrane cytokine activity breast(2)|central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)|urinary_tract(1) 12 ACACAGAATTCACCAGGATTT 0.468000 48 8 0 0 0.004482 0 0 OR10J1 26476 broad.mit.edu 37 1 159409881 159409881 + Silent SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr1:159409881G>A uc010piv.2 + 0 370 c.333G>A c.(331-333)caG>caA p.Q111Q BC038194_uc001fts.4_Intron NM_012351 NP_036483 P30954 O10J1_HUMAN Homo sapiens olfactory receptor, family 10, subfamily J, member 1 (OR10J1), mRNA. 111 sensory perception of smell|single fertilization integral to plasma membrane olfactory receptor activity endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|stomach(1) 25 all_hematologic(112;0.0429) GTGCCACACAGATGTTCTTTT 0.488000 47 8 0 0 0.004482 0 0 LIPH 200879 broad.mit.edu 37 3 185232237 185232237 + Missense_Mutation SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr3:185232237C>T uc003fpm.3 - 7 1165 c.1055G>A c.(1054-1056)aGa>aAa p.R352K LIPH_uc010hyh.3_Missense_Mutation_p.R318K NM_139248 NP_640341 Q8WWY8 LIPH_HUMAN Homo sapiens lipase, member H (LIPH), mRNA. 352 lipid catabolic process extracellular space|plasma membrane heparin binding|phospholipase activity p.R352T(2) breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(2) 20 all_cancers(143;8.87e-11)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(80;1.31e-21) AGCTTTGTCTCTCAATTTGAT 0.363000 398 99 0 0 0.014410 0 0 ISX 91464 broad.mit.edu 37 22 35478635 35478635 + Silent SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr22:35478635G>A uc003anj.3 + 1 1305 c.354G>A c.(352-354)agG>agA p.R118R NM_001008494 NP_001008494 Q2M1V0 ISX_HUMAN Homo sapiens intestine-specific homeobox (ISX), mRNA. 118 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(12)|ovary(3)|prostate(1)|skin(4) 26 TGGCAGCCAGGATCAACCTCC 0.572000 30 10 0 0 0.010729 0 0 OR52K1 390036 broad.mit.edu 37 11 4511075 4511075 + Silent SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr11:4511075G>A uc001lza.2 + 0 967 c.945G>A c.(943-945)taG>taA p.*315* NM_001005171 NP_001005171 Q8NGK4 O52K1_HUMAN Homo sapiens olfactory receptor, family 52, subfamily K, member 1 (OR52K1), mRNA. 0 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) AGAACATGTAGATGGATAGTT 0.398000 54 12 0 0 0.013537 0 0 SPZ1 84654 broad.mit.edu 37 5 79617343 79617343 + RNA SNP G T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr5:79617343G>T uc011ctk.1 - 0 c.316C>A SPZ1_uc003kgn.3_3'UTR Q9BXG8 SPZ1_HUMAN Homo sapiens cDNA FLJ25709 fis, clone TST04944. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding endometrium(2)|kidney(5)|large_intestine(4)|lung(12)|ovary(1)|skin(2) 26 Lung NSC(167;0.0393)|all_lung(232;0.0428)|Ovarian(174;0.113) OV - Ovarian serous cystadenocarcinoma(54;3.43e-47)|Epithelial(54;2.25e-41)|all cancers(79;4.19e-36) ACCAAAAGCAGATGAAAAGGT 0.393000 27 8 0.00307968 0.00332954 0.003080 1 0 XYLT1 64131 broad.mit.edu 37 16 17235063 17235063 + Missense_Mutation SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr16:17235063C>T uc002dfa.3 - 6 1619 c.1534G>A c.(1534-1536)Gat>Aat p.D512N NM_022166 NP_071449 Q86Y38 XYLT1_HUMAN Homo sapiens xylosyltransferase I (XYLT1), mRNA. 512 glycosaminoglycan biosynthetic process Golgi membrane|endoplasmic reticulum membrane|extracellular region|integral to membrane acetylglucosaminyltransferase activity|protein xylosyltransferase activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 GTCACCAGATCGTCTGTGGAG 0.517000 217 34 0 0 0.005524 0 0 NLGN2 57555 broad.mit.edu 37 17 7318850 7318850 + Missense_Mutation SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr17:7318850C>T uc002ggt.1 + 5 1131 c.1058C>T c.(1057-1059)cCc>cTc p.P353L NM_020795 NP_065846 Q8NFZ4 NLGN2_HUMAN Homo sapiens neuroligin 2 (NLGN2), mRNA. 353 cell-cell junction maintenance|neuron cell-cell adhesion|positive regulation of synaptogenesis|regulation of inhibitory postsynaptic membrane potential|synapse assembly cell surface|integral to plasma membrane|postsynaptic membrane neurexin binding|receptor activity central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|prostate(2)|skin(3) 22 Prostate(122;0.157) GCCTTTGGGCCCGTGGTGGAT 0.612000 45 7 0 0 0.001984 0 0 DMBT1 1755 broad.mit.edu 37 10 124358529 124358529 + Missense_Mutation SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr10:124358529G>A uc001lgk.1 + 25 3302 c.3196G>A c.(3196-3198)Gag>Aag p.E1066K DMBT1_uc001lgl.1_Missense_Mutation_p.E1056K|DMBT1_uc001lgm.1_Missense_Mutation_p.E567K|DMBT1_uc021qaf.1_Missense_Mutation_p.E1066K|DMBT1_uc021qag.1_Missense_Mutation_p.E1056K|DMBT1_uc021qah.1_Missense_Mutation_p.E567K|DMBT1_uc009xzz.1_Missense_Mutation_p.E1066K|DMBT1_uc010qtx.1_Intron|DMBT1_uc009yab.1_Missense_Mutation_p.E27K NM_007329 NP_015568 Q9UGM3 DMBT1_HUMAN Homo sapiens deleted in malignant brain tumors 1 (DMBT1), transcript variant 2, mRNA. 1066 SRCR 8. epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|calcium-dependent protein binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3) 72 all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238) CTCAGGACACGAGTCTTACCT 0.597000 115 25 0 0 0.003330 0 0 KCNN3 3782 broad.mit.edu 37 1 154685954 154685954 + Missense_Mutation SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr1:154685954C>T uc021pah.1 - 7 2244 c.1930G>A c.(1930-1932)Gtg>Atg p.V644M KCNN3_uc001ffo.3_Missense_Mutation_p.V324M|KCNN3_uc001ffp.3_Missense_Mutation_p.V629M 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. 634 integral to membrane calmodulin binding cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1) 28 all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245) BRCA - Breast invasive adenocarcinoma(34;0.00819) GAAAGGTCCACCAGAGTGTTG 0.547000 54 11 0 0 0.013537 0 0 CYP2C9 1559 broad.mit.edu 37 10 96708900 96708900 + Silent SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr10:96708900C>T uc001kka.4 + 4 703 c.678C>T c.(676-678)ttC>ttT p.F226F CYP2C9_uc009xut.3_Silent_p.F226F NM_000771 NP_000762 P11712 CP2C9_HUMAN Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 9 (CYP2C9), mRNA. 226 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) TTGATTACTTCCCGGGAACTC 0.269000 44 9 0 0 0.004482 0 0 MGC70870 403340 broad.mit.edu 37 GL000205.1 118065 118065 + RNA SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chrGL000205.1:118065G>A uc002kgk.4 + 0 c.1443G>A Homo sapiens C-terminal binding protein 2 pseudogene (MGC70870), non-coding RNA. AGTTTTGCTCGGGGTCTGTTG 0.572000 48 6 0 0 0.003080 0 0 HEATR7B2 133558 broad.mit.edu 37 5 41019062 41019062 + Missense_Mutation SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr5:41019062G>A uc003jmj.4 - 24 2990 c.2500C>T c.(2500-2502)Cgg>Tgg p.R834W HEATR7B2_uc003jmi.4_Missense_Mutation_p.R389W NM_173489 NP_775760 Q7Z745 HTRB2_HUMAN Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA. 834 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 AGCAGCCTCCGAATATTCTCC 0.463000 30 8 0 0 0.003080 0 0 TBC1D9 23158 broad.mit.edu 37 4 141583072 141583072 + Missense_Mutation SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr4:141583072C>T uc010ioj.3 - 9 2050 c.1778G>A c.(1777-1779)cGa>cAa p.R593Q NM_015130 NP_055945 Q6ZT07 TBCD9_HUMAN Homo sapiens TBC1 domain family, member 9 (with GRAM domain) (TBC1D9), mRNA. 593 Rab-GAP TBC. intracellular Rab GTPase activator activity|calcium ion binding endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 31 all_hematologic(180;0.162) Medulloblastoma(177;0.00498) GTTGGGATTTCGAAAAGCATA 0.398000 26 12 0 0 0.010729 0 0 WRAP73 49856 broad.mit.edu 37 1 3551599 3551600 + Missense_Mutation DNP CC TT TT TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr1:3551599_3551600CC>TT uc001ako.3 - 7 885_886 c.777_778GG>AA c.(775-780)acggag>acAAag p.E260K WRAP73_uc001akn.3_Missense_Mutation_p.E260K|WRAP73_uc010nzi.2_3'UTR NM_017818 NP_060288 Q9P2S5 WRP73_HUMAN Homo sapiens WD repeat containing, antisense to TP73 (WRAP73), mRNA. 260 centrosome protein binding endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|pancreas(1) 12 TGCCCAAACTCCGTGATCATTT 0.564000 147 33 0 0 0.004672 0 0 F13A1 2162 broad.mit.edu 37 6 6225016 6225016 + Silent SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr6:6225016G>A uc003mwv.3 - 6 999 c.876C>T c.(874-876)gcC>gcT p.A292A F13A1_uc011dib.2_Silent_p.A229A NM_000129 NP_000120 P00488 F13A_HUMAN Homo sapiens coagulation factor XIII, A1 polypeptide (F13A1), mRNA. 292 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) TTCCAGTCCAGGCCGATGGGG 0.498000 72 19 0 0 0.007413 0 0 SCAF1 58506 broad.mit.edu 37 19 50156263 50156263 + Missense_Mutation SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr19:50156263C>T uc002poq.3 + 6 2741 c.2617C>T c.(2617-2619)Cgc>Tgc p.R873C NM_021228 NP_067051 Q9H7N4 SFR19_HUMAN Homo sapiens SR-related CTD-associated factor 1 (SCAF1), mRNA. 873 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) CCGCGAGAGTCGCTCCCCCTT 0.652000 35 6 0 0 0.001168 0 0 RP1 6101 broad.mit.edu 37 8 55538031 55538031 + Missense_Mutation SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr8:55538031C>T uc003xsd.1 + 3 1737 c.1589C>T c.(1588-1590)tCa>tTa p.S530L RP1_uc011ldy.1_Intron NM_006269 NP_006260 P56715 RP1_HUMAN Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA. 530 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) GAGGAGTCATCATTAGAAAGA 0.333000 23 9 0 0 0.004482 0 0 PARD3 56288 broad.mit.edu 37 10 34573160 34573160 + Nonsense_Mutation SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr10:34573160G>A uc010qej.2 - 20 3418 c.3088C>T c.(3088-3090)Cga>Tga p.R1030* PARD3_uc010qep.2_Nonsense_Mutation_p.R940*|PARD3_uc010qeq.2_Intron|PARD3_uc010qek.2_Nonsense_Mutation_p.R1027*|PARD3_uc010qel.2_Intron|PARD3_uc010qem.2_Nonsense_Mutation_p.R1014*|PARD3_uc010qen.2_Nonsense_Mutation_p.R984*|PARD3_uc010qeo.2_Intron NM_019619 NP_062565 Q8TEW0 PARD3_HUMAN Homo sapiens par-3 partitioning defective 3 homolog (C. elegans) (PARD3), transcript variant 1, mRNA. 1030 Lys-rich. activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 63 Breast(68;0.0707) TCATCTTTTCGATGTTTGCCA 0.338000 76 13 0 0 0.013537 0 0 CCDC141 285025 broad.mit.edu 37 2 179736992 179736992 + Missense_Mutation SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr2:179736992C>T uc002une.2 - 12 2065 c.1947G>A c.(1945-1947)atG>atA p.M649I CCDC141_uc002unf.1_Missense_Mutation_p.M128I NM_173648 NP_775919 Q6ZP82 CC141_HUMAN Homo sapiens coiled-coil domain containing 141 (CCDC141), mRNA. 74 protein binding p.M74I(1)|p.M649I(1) NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1) 78 OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147) TGGTGTTCTTCATGAGGTACA 0.408000 50 5 0 0 0.000602 0 0 WDR96 80217 broad.mit.edu 37 10 105942240 105942240 + Silent SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr10:105942240G>A uc001kxw.3 - 16 2289 c.2173C>T c.(2173-2175)Ctg>Ttg p.L725L WDR96_uc009xxq.3_Silent_p.L33L|WDR96_uc001kxx.4_Silent_p.L726L NM_025145 NP_079421 Q8NDM7 WDR96_HUMAN Homo sapiens WD repeat domain 96 (WDR96), mRNA. 725 NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 72 TAATAGTCCAGAATTTCACTG 0.348000 44 6 0 0 0.001168 0 0 SOAT1 6646 broad.mit.edu 37 1 179304712 179304712 + Silent SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr1:179304712G>A uc001gml.3 + 3 480 c.249G>A c.(247-249)aaG>aaA p.K83K SOAT1_uc010pni.2_Silent_p.K18K|SOAT1_uc001gmm.3_Silent_p.K25K|SOAT1_uc010pnj.2_5'UTR|SOAT1_uc010pnk.2_Silent_p.K18K NM_003101 NP_003092 P35610 SOAT1_HUMAN Homo sapiens sterol O-acyltransferase 1 (SOAT1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 83 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) TCATTGAAAAGTCAGCATCAT 0.358000 56 9 0 0 0.004482 0 0 KITLG 4254 broad.mit.edu 37 12 88900815 88900815 + Missense_Mutation SNP A G G TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr12:88900815A>G uc001tav.3 - 6 899 c.704T>C c.(703-705)tTa>tCa p.L235S KITLG_uc009zsn.3_Intron|KITLG_uc001taw.3_Missense_Mutation_p.L207S|KITLG_uc009zso.1_Non-coding_Transcript NM_000899 NP_000890 P21583 SCF_HUMAN Homo sapiens KIT ligand (KITLG), transcript variant b, mRNA. 235 cell adhesion|cell proliferation|hemopoiesis|male gonad development|positive regulation of DNA replication|signal transduction cytoplasm|cytoskeleton|integral to membrane|plasma membrane growth factor activity|identical protein binding|stem cell factor receptor binding kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|stomach(1) 9 CTTCCAGTATAAGGCTCCAAA 0.388000 Testicular Cancer, Familial Clustering of 61 17 0 0 0.008871 0 0 MYH9 4627 broad.mit.edu 37 22 36715637 36715637 + Silent SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr22:36715637G>A uc003apg.3 - 9 1287 c.1056C>T c.(1054-1056)atC>atT p.I352I MYH9_uc003aph.1_Silent_p.I216I NM_002473 NP_002464 P35579 MYH9_HUMAN Homo sapiens myosin, heavy chain 9, non-muscle (MYH9), mRNA. 352 Myosin head-like. actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod ADP binding|ATP binding|actin filament binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3) 86 TCTTGAAGACGATGTTGCCGA 0.592000 T ALK ALCL """Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome""" Hereditary Macrothrombocytopenia, MYH9-associated 32 8 0 0 0.003080 0 0 C22orf31 25770 broad.mit.edu 37 22 29456719 29456719 + Missense_Mutation SNP T C C TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr22:29456719T>C uc003aej.1 - 1 243 c.116A>G c.(115-117)aAc>aGc p.N39S NM_015370 NP_056185 O95567 CV031_HUMAN Homo sapiens chromosome 22 open reading frame 31 (C22orf31), mRNA. 39 cervix(1)|endometrium(1)|kidney(17)|large_intestine(2)|lung(4)|prostate(1)|skin(1) 27 CATCCAGATGTTGGTGAGAGC 0.498000 124 27 0 0 0.012213 0 0 PTPRT 11122 broad.mit.edu 37 20 40747136 40747136 + Silent SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr20:40747136C>T uc002xkg.3 - 20 3073 c.2889G>A c.(2887-2889)ccG>ccA p.P963P PTPRT_uc010ggj.3_Silent_p.P982P|PTPRT_uc010ggi.3_Silent_p.P166P NM_007050 NP_008981 O14522 PTPRT_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA. 963 Tyrosine-protein phosphatase 1. homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway cell surface|integral to membrane|plasma membrane alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 176 Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783) TCTCCTGCATCGGACCTGCCA 0.537000 44 23 0 0 0.003330 0 0 SLC22A16 85413 broad.mit.edu 37 6 110757128 110757128 + Missense_Mutation SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr6:110757128C>T uc003puf.3 - 5 1415 c.1348G>A c.(1348-1350)Gga>Aga p.G450R SLC22A16_uc003pue.3_Missense_Mutation_p.G431R NM_033125 NP_149116 Q86VW1 S22AG_HUMAN Homo sapiens solute carrier family 22 (organic cation/carnitine transporter), member 16 (SLC22A16), mRNA. 450 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) GCAAATTTTCCAACCATAGCT 0.348000 37 11 0 0 0.010729 0 0 MAGEA4 4103 broad.mit.edu 37 X 151092868 151092868 + Silent SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chrX:151092868G>A uc022cgv.1 + 0 732 c.732G>A c.(730-732)agG>agA p.R244R MAGEA4_uc004fez.3_Silent_p.R244R|MAGEA4_uc004ffa.3_Silent_p.R244R|MAGEA4_uc004ffb.3_Silent_p.R244R|MAGEA4_uc022cgu.1_Silent_p.R272R|MAGEA4_uc004ffc.3_Silent_p.R244R|MAGEA4_uc004ffd.3_Silent_p.R244R NM_002362 NP_002353 P43358 MAGA4_HUMAN Homo sapiens melanoma antigen family A, 4 (MAGEA4), transcript variant 2, mRNA. 244 MAGE. protein binding breast(2)|central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(2) 27 Acute lymphoblastic leukemia(192;6.56e-05) GGGAGCCCAGGAAACTGCTCA 0.592000 43 22 0 0 0.014323 0 0 DCC 1630 broad.mit.edu 37 18 51025778 51025778 + Nonsense_Mutation SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr18:51025778C>T uc002lfe.2 + 26 4625 c.4009C>T c.(4009-4011)Cga>Tga p.R1337* DCC_uc010dpf.2_Nonsense_Mutation_p.R970* NM_005215 NP_005206 P43146 DCC_HUMAN Homo sapiens deleted in colorectal carcinoma (DCC), mRNA. 1337 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) AGCTTGTGTTCGACCAACTCA 0.532000 73 24 0 0 0.002780 0 0 VWA5A 4013 broad.mit.edu 37 11 123989280 123989280 + Missense_Mutation SNP A G G TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr11:123989280A>G uc001pzu.3 + 5 719 c.510A>G c.(508-510)atA>atG p.I170M VWA5A_uc001pzr.3_Missense_Mutation_p.I170M|VWA5A_uc001pzs.3_Missense_Mutation_p.I170M|VWA5A_uc010sae.2_Missense_Mutation_p.I186M|VWA5A_uc001pzt.3_Missense_Mutation_p.I170M NM_001130142 NP_055437 O00534 VMA5A_HUMAN Homo sapiens von Willebrand factor A domain containing 5A (VWA5A), transcript variant 3, mRNA. 170 autonomic_ganglia(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 47 AGACTCCTATAGTCCCTGTGG 0.478000 93 27 0 0 0.003954 0 0 SH3GL2 6456 broad.mit.edu 37 9 17791249 17791249 + Silent SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr9:17791249C>T uc003zna.3 + 6 933 c.645C>T c.(643-645)ctC>ctT p.L215L SH3GL2_uc011lmy.2_Silent_p.L168L NM_003026 NP_003017 Q99962 SH3G2_HUMAN Homo sapiens SH3-domain GRB2-like 2 (SH3GL2), mRNA. 215 BAR. axon guidance|central nervous system development|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport Golgi membrane|cytosol|plasma membrane identical protein binding|lipid binding NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|skin(3)|upper_aerodigestive_tract(1) 26 GBM - Glioblastoma multiforme(50;2.71e-10)|Lung(42;0.203) TGAGCCAGCTCTCTGCACTTG 0.473000 100 10 0 0 0.001855 0 0 TLR9 54106 broad.mit.edu 37 3 52265180 52265180 + Missense_Mutation SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr3:52265180G>A uc003ddd.3 - 4 597 c.446C>T c.(445-447)tCg>tTg p.S149L TLR9_uc003ddb.3_5'UTR|TLR9_uc003ddc.1_5'Flank NM_007284 NP_009215 Q9NR96 TLR9_HUMAN Homo sapiens twinfilin, actin-binding protein, homolog 2 (Drosophila) (TWF2), mRNA. 0 I-kappaB phosphorylation|defense response to bacterium|fibroblast growth factor receptor signaling pathway|inflammatory response|innate immune response|insulin receptor signaling pathway|maintenance of gastrointestinal epithelium|negative regulation of NF-kappaB transcription factor activity|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JUN kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|response to molecule of bacterial origin apical plasma membrane|basolateral plasma membrane|early phagosome|endoplasmic reticulum membrane|endosome membrane|extracellular region|integral to membrane|lysosome interleukin-1 receptor binding|siRNA binding|transmembrane receptor activity endometrium(4)|large_intestine(11)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 30 BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) Chloroquine(DB00608) TCTCTCAGCCGAGGTCAGCGG 0.617000 136 30 0 0 0.013726 0 0 GIMAP7 168537 broad.mit.edu 37 7 150217156 150217156 + Missense_Mutation SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr7:150217156G>A uc003whk.3 + 1 224 c.94G>A c.(94-96)Gaa>Aaa p.E32K GIMAP7_uc022apu.1_Missense_Mutation_p.E32K NM_153236 NP_694968 Q8NHV1 GIMA7_HUMAN Homo sapiens GTPase, IMAP family member 7 (GIMAP7), mRNA. 32 GTP binding breast(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1) 17 OV - Ovarian serous cystadenocarcinoma(82;0.0218) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) CCTTGGAGAGGAAATCTTTGA 0.507000 38 12 0 0 0.010729 0 0 EBF2 64641 broad.mit.edu 37 8 25708118 25708118 + Missense_Mutation SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr8:25708118C>T uc003xes.2 - 14 1953 c.1688G>A c.(1687-1689)gGa>gAa p.G563E DOCK5_uc003xek.3_Intron|EBF2_uc010lug.2_Non-coding_Transcript NM_022659 NP_073150 Q9HAK2 COE2_HUMAN Homo sapiens early B-cell factor 2 (EBF2), mRNA. 563 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|metal ion binding p.G563R(1) endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 39 all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845) UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738) ACCTCTGAATCCATTTCCATT 0.488000 70 14 0 0 0.004007 0 0 VPS13D 55187 broad.mit.edu 37 1 12374214 12374214 + Silent SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr1:12374214C>T uc001atv.3 + 29 7119 c.6978C>T c.(6976-6978)tcC>tcT p.S2326S VPS13D_uc001atw.3_Silent_p.S2326S|VPS13D_uc001atx.3_Silent_p.S1514S|VPS13D_uc001aty.1_Silent_p.S64S NM_015378 NP_056193 Q5THJ4 VP13D_HUMAN Homo sapiens vacuolar protein sorting 13 homolog D (S. cerevisiae) (VPS13D), transcript variant 1, mRNA. 2326 protein localization NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4) 130 Ovarian(185;0.249) Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209) AAAGTTTTTCCAACCAAACCA 0.403000 24 5 0 0 0.000602 0 0 CDC25B 994 broad.mit.edu 37 20 3779074 3779074 + Missense_Mutation SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr20:3779074C>T uc002wjn.3 + 2 1122 c.344C>T c.(343-345)tCc>tTc p.S115F CDC25B_uc010zqk.2_Missense_Mutation_p.S51F|CDC25B_uc010zql.2_Missense_Mutation_p.S37F|CDC25B_uc010zqm.2_Missense_Mutation_p.S51F|CDC25B_uc002wjl.3_Missense_Mutation_p.S3F|CDC25B_uc002wjm.3_Missense_Mutation_p.S3F|CDC25B_uc021waa.1_Missense_Mutation_p.S3F|CDC25B_uc002wjo.3_Missense_Mutation_p.S101F|CDC25B_uc002wjp.3_Missense_Mutation_p.S115F|CDC25B_uc002wjq.3_5'Flank NM_021873 NP_068659 P30305 MPIP2_HUMAN Homo sapiens cell division cycle 25 homolog B (S. pombe) (CDC25B), transcript variant 1, mRNA. 115 G2/M transition of mitotic cell cycle|cell division|mitosis|positive regulation of cell proliferation cytosol|microtubule organizing center|nucleoplasm protein binding|protein tyrosine phosphatase activity NS(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(1) 18 TGCATGGATTCCCCCAGCCCT 0.478000 122 25 0 0 0.007291 0 0 SNHG12 85028 broad.mit.edu 37 1 28905116 28905116 + RNA SNP A C C TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr1:28905116A>C uc001bqk.3 - 5 c.673T>G SNHG12_uc001bql.3_Non-coding_Transcript|SNHG12_uc001bqm.3_Non-coding_Transcript|SNHG12_uc001bqn.3_Non-coding_Transcript|SNHG12_uc001bqo.3_Non-coding_Transcript Homo sapiens small nucleolar RNA host gene 12 (non-protein coding) (SNHG12), non-coding RNA. ACACTGCATAATTTTTTGCAT 0.368000 27 7 0 0 0.001984 0 0 ACVR1C 130399 broad.mit.edu 37 2 158400965 158400965 + Missense_Mutation SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr2:158400965C>T uc002tzk.4 - 4 1178 c.935G>A c.(934-936)gGt>gAt p.G312D ACVR1C_uc002tzl.4_Missense_Mutation_p.G232D|ACVR1C_uc010fof.3_Missense_Mutation_p.G155D|ACVR1C_uc010foe.3_Missense_Mutation_p.G262D NM_145259 NP_001104501 Q8NER5 ACV1C_HUMAN Homo sapiens activin A receptor, type IC (ACVR1C), transcript variant 1, mRNA. 312 Protein kinase. apoptosis|cell differentiation|regulation of apoptosis activin receptor complex ATP binding|activin receptor activity, type I|transforming growth factor beta receptor activity NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 42 ACCTTGTGTACCAACAATCTC 0.333000 44 8 0 0 0.008291 0 0 TRIO 7204 broad.mit.edu 37 5 14304662 14304662 + Silent SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr5:14304662C>T uc003jff.3 + 7 1467 c.1461C>T c.(1459-1461)caC>caT p.H487H TRIO_uc003jfg.3_Non-coding_Transcript|TRIO_uc011cna.1_Silent_p.H438H|TRIO_uc003jfh.1_Silent_p.H136H NM_007118 NP_009049 O75962 TRIO_HUMAN Homo sapiens triple functional domain (PTPRF interacting) (TRIO), mRNA. 487 apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway cytosol ATP binding|Rho guanyl-nucleotide exchange factor activity|protein serine/threonine kinase activity NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 118 Lung NSC(4;0.000742) TTCATCACCACCAGGGAATAT 0.443000 74 14 0 0 0.002450 0 0 SETBP1 26040 broad.mit.edu 37 18 42530559 42530559 + Silent SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr18:42530559G>A uc010dni.3 + 3 1550 c.1254G>A c.(1252-1254)agG>agA p.R418R NM_015559 NP_056374 Q9Y6X0 SETBP_HUMAN Homo sapiens SET binding protein 1 (SETBP1), transcript variant 1, mRNA. 418 nucleus DNA binding NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 104 Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201) ACCATAAGAGGAAAAAAAGAC 0.453000 Schinzel-Giedion syndrome 34 11 0 0 0.010729 0 0 SEPT11 55752 broad.mit.edu 37 4 77941690 77941690 + Nonsense_Mutation SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr4:77941690C>T uc011cca.2 + 8 1202 c.850C>T c.(850-852)Cga>Tga p.R284* SEPT11_uc010ijh.1_Nonsense_Mutation_p.R266*|SEPT11_uc003hkj.3_Nonsense_Mutation_p.R274*|SEPT11_uc003hkk.1_Nonsense_Mutation_p.R74* Q9NVA2 SEP11_HUMAN Homo sapiens septin 11 (SEPT11), mRNA. 274 cell cycle|cell division|protein heterooligomerization axon|cell junction|dendritic spine|septin complex|stress fiber|synapse GTP binding|protein binding p.R274*(1) endometrium(2)|kidney(3)|large_intestine(3)|lung(1)|skin(1)|stomach(1) 11 TGTGAAACTTCGAGAGATGCT 0.473000 45 10 0 0 0.008291 0 0 TSPAN3 10099 broad.mit.edu 37 15 77348180 77348180 + Missense_Mutation SNP A T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr15:77348180A>T uc002bcj.3 - 2 555 c.281T>A c.(280-282)tTt>tAt p.F94Y TSPAN3_uc002bck.3_Intron|TSPAN3_uc010ump.2_Missense_Mutation_p.F30Y NM_005724 NP_005715 O60637 TSN3_HUMAN Homo sapiens tetraspanin 3 (TSPAN3), transcript variant 1, mRNA. 94 integral to membrane kidney(1)|large_intestine(2)|lung(6)|urinary_tract(1) 10 all cancers(203;1.14e-19) TTCTGTGACAAAAACCAAGAG 0.299000 67 14 0 0 0.007413 0 0 TMEM39B 55116 broad.mit.edu 37 1 32560427 32560427 + Silent SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr1:32560427C>T uc010ogv.2 + 6 1116 c.970C>T c.(970-972)Ctg>Ttg p.L324L TMEM39B_uc010ogt.1_Non-coding_Transcript|TMEM39B_uc010ogu.1_Silent_p.L197L|TMEM39B_uc001buf.4_Silent_p.L125L|TMEM39B_uc010ogw.2_Silent_p.L125L NM_018056 NP_060526 Q9GZU3 TM39B_HUMAN Homo sapiens transmembrane protein 39B (TMEM39B), mRNA. 324 integral to membrane endometrium(2)|kidney(1)|lung(5)|ovary(1)|prostate(2) 11 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174) TGAACTCTTCCTGCTGGTGTC 0.582000 80 17 0 0 0.007413 0 0 NPNT 255743 broad.mit.edu 37 4 106879666 106879666 + Missense_Mutation SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr4:106879666G>A uc011cfd.2 + 9 1501 c.1288G>A c.(1288-1290)Gaa>Aaa p.E430K NPNT_uc011cfc.2_Missense_Mutation_p.E417K|NPNT_uc011cfe.2_Intron|NPNT_uc003hya.3_Missense_Mutation_p.E400K|NPNT_uc011cff.2_Intron NM_001184691 NP_001171620 Q6UXI9 NPNT_HUMAN Homo sapiens nephronectin (NPNT), transcript variant 3, mRNA. 400 MAM. cell differentiation membrane calcium ion binding kidney(5)|large_intestine(2)|lung(10)|prostate(2)|skin(1)|urinary_tract(1) 21 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;5.41e-07) TGAAATATTTGAAATAGAAAG 0.388000 26 6 0 0 0.001984 0 0 TLE2 7089 broad.mit.edu 37 19 3013779 3013779 + Missense_Mutation SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr19:3013779G>A uc010dth.3 - 10 1027 c.764C>T c.(763-765)cCc>cTc p.P255L TLE2_uc010xhb.2_5'UTR|TLE2_uc002lww.3_Missense_Mutation_p.P254L|TLE2_uc010xhc.2_Missense_Mutation_p.P132L|TLE2_uc010dti.3_Missense_Mutation_p.P268L|TLE2_uc010xhd.1_Missense_Mutation_p.P162L NM_003260 NP_003251 Q04725 TLE2_HUMAN Homo sapiens transducin-like enhancer of split 2 (E(sp1) homolog, Drosophila) (TLE2), transcript variant 1, mRNA. 254 CCN domain. 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) CTTTCCGCAGGGGGTGGTAGC 0.607000 104 16 0 0 0.004007 0 0 MYO5B 4645 broad.mit.edu 37 18 47527697 47527697 + Silent SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr18:47527697G>A uc002leb.2 - 4 828 c.540C>T c.(538-540)ttC>ttT p.F180F MYO5B_uc021ukb.1_Silent_p.F179F NM_001080467 NP_001073936 Q9ULV0 MYO5B_HUMAN Homo sapiens myosin VB (MYO5B), mRNA. 180 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) CAACGGTGGCGAAATAGCGCA 0.532000 100 20 0 0 0.010504 0 0 LRP1B 53353 broad.mit.edu 37 2 142004865 142004865 + Silent SNP T A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr2:142004865T>A uc002tvj.1 - 4 1494 c.522A>T c.(520-522)ggA>ggT p.G174G LRP1B_uc010fnl.1_Intron NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA. 174 EGF-like 2; calcium-binding (Potential). 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) AAGTGTAGGATCCATGTGTGT 0.388000 TSP Lung(27;0.18) 62 16 0 0 0.004007 0 0 BIRC8 112401 broad.mit.edu 37 19 53793219 53793219 + Nonsense_Mutation SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr19:53793219G>A uc002qbk.3 - 0 1657 c.409C>T c.(409-411)Caa>Taa p.Q137* NM_033341 NP_203127 Q96P09 BIRC8_HUMAN Homo sapiens baculoviral IAP repeat containing 8 (BIRC8), mRNA. 137 apoptosis zinc ion binding 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) CCAGATGTTTGAATTCTTTCC 0.373000 96 15 0 0 0.003163 0 0 STXBP5L 9515 broad.mit.edu 37 3 121001140 121001140 + Missense_Mutation SNP A G G TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr3:121001140A>G uc003eec.4 + 19 2278 c.2138A>G c.(2137-2139)aAc>aGc p.N713S STXBP5L_uc011bji.2_Intron NM_014980 NP_055795 Q9Y2K9 STB5L_HUMAN Homo sapiens syntaxin binding protein 5-like (STXBP5L), mRNA. 713 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) GGCCTGTCTAACTTTTATCCT 0.388000 42 7 0 0 0.006214 0 0 ZNF804A 91752 broad.mit.edu 37 2 185801341 185801341 + Silent SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr2:185801341G>A uc002uph.3 + 3 1812 c.1218G>A c.(1216-1218)gaG>gaA p.E406E NM_194250 NP_919226 Q7Z570 Z804A_HUMAN Homo sapiens zinc finger protein 804A (ZNF804A), mRNA. 406 intracellular zinc ion binding NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1) 146 ATACTGAAGAGGTTAACATAA 0.388000 96 18 0 0 0.004990 0 0 PCDHGC5 56097 broad.mit.edu 37 5 140720972 140720973 + Missense_Mutation DNP CT GA GA TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr5:140720972_140720973CT>GA uc011dao.2 + 0 2619_2620 c.2434_2435CT>GA c.(2434-2436)ctt>GAt p.L812D PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_5'Flank|PCDHGC5_uc011dap.2_5'Flank NM_032009 NP_114398 Q9Y5F6 PCDGM_HUMAN Homo sapiens protocadherin gamma subfamily A, 2 (PCDHGA2), transcript variant 2, mRNA. 0 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) GGTAATCTATCTTTTCACAACA 0.376000 44 7 0 0 0.004672 0 0 UPB1 51733 broad.mit.edu 37 22 24919732 24919732 + Nonsense_Mutation SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr22:24919732G>A uc003aaf.3 + 8 2357 c.1062G>A c.(1060-1062)tgG>tgA p.W354* UPB1_uc003aae.3_Nonsense_Mutation_p.W286*|UPB1_uc021wnh.1_Non-coding_Transcript NM_016327 NP_057411 Q9UBR1 BUP1_HUMAN Homo sapiens ureidopropionase, beta (UPB1), mRNA. 354 CN hydrolase. pyrimidine base metabolic process|pyrimidine nucleoside catabolic process cytosol beta-ureidopropionase activity|metal ion binding endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 22 Colorectal(2;0.0339) ATGATGTCTGGAACTTCAAGG 0.597000 108 20 0 0 0.002780 0 0 TSHZ2 128553 broad.mit.edu 37 20 51870404 51870404 + Missense_Mutation SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr20:51870404C>T uc002xwo.3 + 1 1294 c.407C>T c.(406-408)tCc>tTc p.S136F TSHZ2_uc021wex.1_Missense_Mutation_p.S133F NM_173485 NP_775756 Q9NRE2 TSH2_HUMAN Homo sapiens teashirt zinc finger homeobox 2 (TSHZ2), transcript variant 1, mRNA. 136 multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 84 STAD - Stomach adenocarcinoma(23;0.1) CTGTCGGATTCCTACTGGTCA 0.512000 65 7 0 0 0.004482 0 0 PPP2R2C 5522 broad.mit.edu 37 4 6349733 6349733 + Silent SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr4:6349733G>A uc003gja.3 - 5 654 c.630C>T c.(628-630)atC>atT p.I210I PPP2R2C_uc003gjb.3_Silent_p.I193I|PPP2R2C_uc003gjc.3_Silent_p.I210I|PPP2R2C_uc011bwd.2_Silent_p.I203I|PPP2R2C_uc011bwe.2_Silent_p.I203I|PPP2R2C_uc003gjd.1_Silent_p.I298I NM_181876 NP_870991 Q9Y2T4 2ABG_HUMAN Homo sapiens protein phosphatase 2, regulatory subunit B, gamma (PPP2R2C), transcript variant 2, mRNA. 210 signal transduction protein phosphatase type 2A complex protein phosphatase type 2A regulator activity central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1) 28 TGATGTCCACGATGTCTGGGG 0.597000 46 11 0 0 0.013537 0 0 UNC5CL 222643 broad.mit.edu 37 6 41001861 41001861 + Missense_Mutation SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr6:41001861C>T uc003opi.3 - 2 544 c.445G>A c.(445-447)Gac>Aac p.D149N UNC5CL_uc010jxe.1_Missense_Mutation_p.D149N NM_173561 NP_775832 Q8IV45 UN5CL_HUMAN Homo sapiens unc-5 homolog C (C. elegans)-like (UNC5CL), mRNA. 149 ZU5. signal transduction cytoplasm|integral to membrane p.S148S(1) endometrium(1)|kidney(3)|large_intestine(3)|lung(3)|ovary(2)|upper_aerodigestive_tract(1) 13 Ovarian(28;0.0418)|Colorectal(47;0.196) GATGGGGCGTCCGACAGGTCC 0.652000 35 10 0 0 0.006214 0 0 RORB 6096 broad.mit.edu 37 9 77275589 77275589 + Missense_Mutation SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr9:77275589G>A uc004aji.3 + 4 776 c.727G>A c.(727-729)Gaa>Aaa p.E243K RORB_uc004ajh.3_Missense_Mutation_p.E232K NM_006914 NP_008845 Q92753 RORB_HUMAN Homo sapiens RAR-related orphan receptor B (RORB), mRNA. 243 Ligand-binding (Potential). eye photoreceptor cell development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|visual perception nucleoplasm sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding breast(2)|large_intestine(4)|lung(1)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 12 ATACACCATGGAAGAGCTGCA 0.403000 88 15 0 0 0.002450 0 0 FGFR1 2260 broad.mit.edu 37 8 38282033 38282033 + Silent SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr8:38282033G>A uc022aua.1 - 6 1872 c.930C>T c.(928-930)atC>atT p.I310I FGFR1_uc011lbu.2_Silent_p.I341I|FGFR1_uc011lbv.2_Silent_p.I308I|FGFR1_uc011lbw.2_Silent_p.I221I|FGFR1_uc003xlp.3_Silent_p.I310I|FGFR1_uc022aub.1_Silent_p.I308I|FGFR1_uc022auc.1_Silent_p.I221I|FGFR1_uc022aud.1_Silent_p.I219I|FGFR1_uc010lwk.3_Silent_p.I302I|FGFR1_uc011lbr.2_Non-coding_Transcript|FGFR1_uc011lbs.2_Silent_p.I150I|FGFR1_uc011lbt.1_Silent_p.I219I|FGFR1_uc011lbx.1_Silent_p.I221I|FGFR1_uc003xlv.3_Silent_p.I221I|FGFR1_uc003xlu.3_Silent_p.I219I NM_023110 NP_075598 P11362 FGFR1_HUMAN Homo sapiens fibroblast growth factor receptor 1 (FGFR1), transcript variant 1, mRNA. 310 Ig-like C2-type 3. 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) TTACCTTCAAGATCTGGACAT 0.567000 1 T """BCR, FOP, ZNF198, CEP1""" """MPD, NHL""" """Pfeiffer syndrome, Kallman syndrome""" 70 13 0 0 0.001855 0 0 GRM3 2913 broad.mit.edu 37 7 86493639 86493639 + Missense_Mutation SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr7:86493639G>A uc003uid.3 + 5 3707 c.2608G>A c.(2608-2610)Gaa>Aaa p.E870K GRM3_uc010lef.3_Missense_Mutation_p.G512E|GRM3_uc010leg.3_Missense_Mutation_p.E742K|GRM3_uc010leh.3_Missense_Mutation_p.E462K NM_000840 NP_000831 Q14832 GRM3_HUMAN Homo sapiens glutamate receptor, metabotropic 3 (GRM3), mRNA. 870 synaptic transmission integral to plasma membrane p.R869R(2)|p.E870K(2) NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5) 109 Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142) Acamprosate(DB00659)|Nicotine(DB00184) CAATGGGCGGGAAGTCCTCGA 0.468000 95 20 0 0 0.004656 0 0 CARD14 79092 broad.mit.edu 37 17 78165120 78165120 + Splice_Site SNP A C C TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr17:78165120A>C uc002jxw.1 + 8 1284 c.1090_splice c.e8-2 p.A364_splice CARD14_uc002jxt.1_Splice_Site|CARD14_uc002jxv.3_Splice_Site_p.A364_splice|CARD14_uc010wud.1_Splice_Site|CARD14_uc002jxx.3_Splice_Site_p.A127_splice|CARD14_uc010dhu.1_Splice_Site_p.A162_splice NM_024110 NP_077015 Q9BXL6 CAR14_HUMAN Homo sapiens caspase recruitment domain family, member 14 (CARD14), transcript variant 1, mRNA. 364 activation of NF-kappaB-inducing kinase activity|positive regulation of protein phosphorylation|regulation of apoptosis aggresome|cytoplasm|plasma membrane CARD domain binding NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(5)|prostate(1)|skin(1) 23 all_neural(118;0.0952) OV - Ovarian serous cystadenocarcinoma(97;0.017)|BRCA - Breast invasive adenocarcinoma(99;0.0908) CGTGGCCCACAGGCGTACTCC 0.632000 47 5 0 0 0.001984 0 0 MLKL 197259 broad.mit.edu 37 16 74729605 74729605 + Silent SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr16:74729605C>T uc002fdb.2 - 1 492 c.51G>A c.(49-51)cgG>cgA p.R17R MLKL_uc002fdc.2_Silent_p.R17R NM_152649 NP_689862 Q8NB16 MLKL_HUMAN Homo sapiens mixed lineage kinase domain-like (MLKL), transcript variant 1, mRNA. 17 ATP binding|protein binding|protein kinase activity breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(6)|skin(1)|stomach(2) 19 TCTCTTCACACCGTTTGTGGA 0.498000 64 8 0 0 0.006214 0 0 COL5A2 1290 broad.mit.edu 37 2 189933543 189933543 + Missense_Mutation SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr2:189933543G>A uc002uqk.3 - 18 1501 c.1226C>T c.(1225-1227)cCc>cTc p.P409L COL5A2_uc010frx.3_Intron NM_000393 NP_000384 P05997 CO5A2_HUMAN Homo sapiens collagen, type V, alpha 2 (COL5A2), mRNA. 409 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) TGGACCTGGGGGCCCAGTTTC 0.498000 54 7 0 0 0.003080 0 0 TGM4 7047 broad.mit.edu 37 3 44945383 44945383 + Missense_Mutation SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr3:44945383C>T uc003coc.4 + 8 1052 c.979C>T c.(979-981)Cat>Tat p.H327Y NM_003241 NP_003232 P49221 TGM4_HUMAN Homo sapiens transglutaminase 4 (prostate) (TGM4), mRNA. 327 peptide cross-linking|protein polyamination acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity p.F326L(1) NS(1)|breast(1)|endometrium(2)|large_intestine(9)|lung(21)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1) 38 BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686) L-Glutamine(DB00130) CAGGAATTTCCATGTGTGGAC 0.587000 132 25 0 0 0.003954 0 0 KRT34 3885 broad.mit.edu 37 17 39535215 39535215 + Missense_Mutation SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr17:39535215C>T uc002hwm.3 - 5 1228 c.1216G>A c.(1216-1218)Gac>Aac p.D406N NM_021013 NP_066293 O76011 KRT34_HUMAN Homo sapiens keratin 34 (KRT34), mRNA. 406 Tail. epidermis development intermediate filament protein binding|structural molecule activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 Breast(137;0.000496) CACTTGCAGTCCTCACTCTCC 0.537000 70 9 0 0 0.004482 0 0 PCDHGC5 56097 broad.mit.edu 37 5 140784793 140784793 + Silent SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr5:140784793C>T uc003lkh.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_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_uc011dax.2_Silent_p.S758S|PCDHGC5_uc003lki.1_5'Flank|PCDHGC5_uc003lkj.2_5'Flank NM_018921 NP_061744 Q9Y5F6 PCDGM_HUMAN Homo sapiens protocadherin gamma subfamily A, 9 (PCDHGA9), 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) AGGAGTTCTCCCTCACCGCTG 0.537000 53 11 0 0 0.002450 0 0 F5 2153 broad.mit.edu 37 1 169510174 169510174 + Missense_Mutation SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr1:169510174G>A uc001ggg.1 - 12 4299 c.4154C>T c.(4153-4155)tCc>tTc p.S1385F NM_000130 NP_000121 P12259 FA5_HUMAN Homo sapiens coagulation factor V (proaccelerin, labile factor) (F5), mRNA. 1385 35 X 9 AA approximate tandem repeats of [TNP]-L-S-P-D-L-S-Q-T.|B. cell adhesion|platelet activation|platelet degranulation plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1) 128 all_hematologic(923;0.208) Drotrecogin alfa(DB00055) GAGGTCTGGGGAAAGGTTTGT 0.527000 131 33 0 0 0.012213 0 0 OR1S2 219958 broad.mit.edu 37 11 57971493 57971493 + Missense_Mutation SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr11:57971493C>T uc010rkb.2 - 0 161 c.161G>A c.(160-162)gGg>gAg p.G54E NM_001004459 NP_001004459 Q8NGQ3 OR1S2_HUMAN Homo sapiens olfactory receptor, family 1, subfamily S, member 2 (OR1S2), mRNA. 54 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(11)|kidney(1)|large_intestine(4)|lung(23)|ovary(2)|skin(2)|stomach(2)|urinary_tract(1) 46 Breast(21;0.0589) GAGCCCGTTCCCAACCACAGT 0.458000 61 36 0 0 0.003755 0 0 CXCR2 3579 broad.mit.edu 37 2 219000400 219000400 + Silent SNP C T T rs34747313 TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr2:219000400C>T uc002vgz.2 + 3 1086 c.876C>T c.(874-876)atC>atT p.I292I CXCR2_uc002vha.2_Silent_p.I292I|CXCR2_uc002vhb.2_Silent_p.I292I|CXCR2_uc021vwp.1_Silent_p.I292I NM_001168298 NP_001548 P25025 CXCR2_HUMAN Homo sapiens chemokine (C-X-C motif) receptor 2 (CXCR2), transcript variant 2, mRNA. 292 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cellular defense response|dendritic cell chemotaxis|inflammatory response|neutrophil activation|neutrophil chemotaxis|positive regulation of cell proliferation cell surface|integral to plasma membrane|mast cell granule interleukin-8 receptor activity breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(11)|skin(1)|stomach(1) 22 GCAATCACATCGACCGGGCTC 0.597000 74 26 0 0 0.004656 0 0 TCN1 6947 broad.mit.edu 37 11 59626734 59626734 + Missense_Mutation SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr11:59626734C>T uc001noj.2 - 4 661 c.563G>A c.(562-564)gGt>gAt p.G188D NM_001062 NP_001053 P20061 TCO1_HUMAN Homo sapiens transcobalamin I (vitamin B12 binding protein, R binder family) (TCN1), mRNA. 188 cobalamin metabolic process|cobalamin transport|cobalt ion transport extracellular region cobalamin binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 29 all_epithelial(135;0.198) Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) AGCCATTGCACCAGTATCTGT 0.448000 52 21 0 0 0.002780 0 0 LRP1 4035 broad.mit.edu 37 12 57570936 57570936 + Silent SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr12:57570936C>T uc001snd.3 + 24 4570 c.4104C>T c.(4102-4104)atC>atT p.I1368I NM_002332 NP_002323 Q07954 LRP1_HUMAN Homo sapiens low density lipoprotein receptor-related protein 1 (LRP1), mRNA. 1368 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) TGGATCAGATCGAGGTGGCCA 0.612000 52 9 0 0 0.004482 0 0 MYO3A 53904 broad.mit.edu 37 10 26491913 26491913 + Nonsense_Mutation SNP T A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr10:26491913T>A uc001isn.2 + 33 4967 c.4607T>A c.(4606-4608)tTg>tAg p.L1536* MYO3A_uc009xkp.1_Intron|MYO3A_uc009xkq.1_Intron NM_017433 NP_059129 Q8NEV4 MYO3A_HUMAN Homo sapiens myosin IIIA (MYO3A), mRNA. 1536 protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception cytoplasm|filamentous actin|filopodium|myosin complex ADP binding|ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 146 TTATTAGATTTGGAAGATTTC 0.343000 23 4 0 0 0.009096 0 0 NETO2 81831 broad.mit.edu 37 16 47117523 47117523 + Missense_Mutation SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr16:47117523G>A uc002eer.2 - 8 1600 c.1187C>T c.(1186-1188)cCt>cTt p.P396L NETO2_uc002eeq.2_Missense_Mutation_p.P131L|NETO2_uc010vgf.2_Missense_Mutation_p.P389L NM_018092 NP_060562 Q8NC67 NETO2_HUMAN Homo sapiens neuropilin (NRP) and tolloid (TLL)-like 2 (NETO2), transcript variant 1, mRNA. 396 integral to membrane receptor activity breast(1)|cervix(1)|endometrium(1)|large_intestine(8)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(4) 29 all_cancers(37;0.00114)|all_lung(18;0.00432)|Lung NSC(13;0.0384)|Breast(268;0.174) TTCATAATGAGGAGGATCAAA 0.423000 HNSCC(25;0.065) 62 16 0 0 0.004990 0 0 OR2Y1 134083 broad.mit.edu 37 5 180166981 180166981 + Silent SNP G A A rs146483228 TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr5:180166981G>A uc003mmf.1 - 0 78 c.78C>T c.(76-78)atC>atT p.I26I NM_001001657 NP_001001657 Q8NGV0 OR2Y1_HUMAN Homo sapiens olfactory receptor, family 2, subfamily Y, member 1 (OR2Y1), mRNA. 26 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 20 all_cancers(89;1.25e-05)|all_epithelial(37;4.36e-06)|Renal(175;0.000159)|Lung NSC(126;0.00317)|all_lung(126;0.0041)|Breast(19;0.114) all_cancers(40;0.0834)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) AGACAAACAGGATGGGCTCCA 0.468000 22 8 0 0 0.004482 0 0 LDB2 9079 broad.mit.edu 37 4 16760786 16760786 + Missense_Mutation SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr4:16760786C>T uc003goz.3 - 1 546 c.230G>A c.(229-231)cGa>cAa p.R77Q LDB2_uc003gpa.3_Missense_Mutation_p.R77Q|LDB2_uc011bxh.2_Missense_Mutation_p.R77Q|LDB2_uc003gpb.3_Missense_Mutation_p.R77Q|LDB2_uc010iee.3_Missense_Mutation_p.R77Q NM_001290 NP_001281 O43679 LDB2_HUMAN Homo sapiens LIM domain binding 2 (LDB2), transcript variant 1, mRNA. 77 LIM domain binding|transcription cofactor activity p.R77*(1) breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(23)|urinary_tract(1) 33 CTTACTGTATCGCTTTGGTCC 0.428000 35 8 0 0 0.003080 0 0 PPARG 5468 broad.mit.edu 37 3 12421299 12421299 + Missense_Mutation SNP T G G TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr3:12421299T>G uc003bwx.3 + 1 270 c.179T>G c.(178-180)tTt>tGt p.F60C PPARG_uc003bwr.3_Missense_Mutation_p.F32C|PPARG_uc003bws.3_Missense_Mutation_p.F32C|PPARG_uc003bwu.3_Missense_Mutation_p.F32C|PPARG_uc003bwv.3_Missense_Mutation_p.F32C|PPARG_uc010hea.1_Non-coding_Transcript|PPARG_uc010hdz.1_Non-coding_Transcript|PPARG_uc003bwt.1_Missense_Mutation_p.F32C|PPARG_uc003bww.1_Missense_Mutation_p.F60C NM_015869 NP_619726 P37231 PPARG_HUMAN Homo sapiens peroxisome proliferator-activated receptor gamma (PPARG), transcript variant 2, mRNA. 60 activation of caspase activity|cell fate commitment|cell maturation|cellular response to insulin stimulus|epithelial cell differentiation|glucose homeostasis|induction of apoptosis|innate immune response|lipid homeostasis|lipoprotein transport|long-chain fatty acid transport|low-density lipoprotein particle receptor biosynthetic process|monocyte differentiation|negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|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|placenta development|positive regulation of fat cell differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to lipid|response to low-density lipoprotein particle stimulus|white fat cell differentiation cytosol|nucleoplasm activating transcription factor binding|arachidonic acid binding|drug binding|enzyme binding|prostaglandin receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding PAX8/PPARG(117) breast(2)|endometrium(4)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1) 20 Atorvastatin(DB01076)|Icosapent(DB00159)|Pioglitazone(DB01132)|Rosiglitazone(DB00412)|Troglitazone(DB00197) TCCCACTCCTTTGATATCAAG 0.468000 T PAX8 follicular thyroid """Insulin resistance ; lipodystrophy, familial partial L;diabetes mellitus, insulin-resistantI, with acanthosis nigricans and hypertension""" 472 111 0 0 0.014410 0 0 OR8K1 390157 broad.mit.edu 37 11 56113517 56113517 + Missense_Mutation SNP G A A rs146780927 TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr11:56113517G>A uc010rjg.2 + 0 3 c.3G>A c.(1-3)atG>atA p.M1I NM_001002907 NP_001002907 Q8NGG5 OR8K1_HUMAN Homo sapiens olfactory receptor, family 8, subfamily K, member 1 (OR8K1), mRNA. 1 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(8)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 33 Esophageal squamous(21;0.00448) TTACCAAGATGAATCATGTGG 0.358000 HNSCC(65;0.19) 26 10 0 0 0.010729 0 0 AADAC 13 broad.mit.edu 37 3 151545928 151545928 + Nonsense_Mutation SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr3:151545928C>T uc003eze.3 + 4 1258 c.1168C>T c.(1168-1170)Cag>Tag p.Q390* NM_001086 NP_001077 P22760 AAAD_HUMAN Homo sapiens arylacetamide deacetylase (esterase) (AADAC), mRNA. 390 positive regulation of triglyceride catabolic process endoplasmic reticulum membrane|integral to membrane|microsome carboxylesterase activity|deacetylase activity|serine hydrolase activity|triglyceride lipase activity NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(5)|skin(2) 19 Myeloproliferative disorder(1037;0.0255)|all_neural(597;0.112) LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813) ACTTATAAATCAGTATATTGA 0.323000 48 5 0 0 0.000602 0 0 ATAD5 79915 broad.mit.edu 37 17 29171041 29171041 + Silent SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr17:29171041C>T uc002hfs.1 + 4 2695 c.2352C>T c.(2350-2352)tcC>tcT p.S784S ATAD5_uc002hft.1_Silent_p.S681S NM_024857 NP_079133 Q96QE3 ATAD5_HUMAN Homo sapiens ATPase family, AAA domain containing 5 (ATAD5), mRNA. 784 response to DNA damage stimulus nucleus ATP binding|nucleoside-triphosphatase activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1) 51 all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393) TTAACACATCCACTAAAAATG 0.299000 67 12 0 0 0.013537 0 0 KIAA0319L 79932 broad.mit.edu 37 1 35926016 35926016 + Silent SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr1:35926016G>A uc001byx.3 - 8 1575 c.1317C>T c.(1315-1317)atC>atT p.I439I KIAA0319L_uc010ohv.1_Silent_p.I81I|KIAA0319L_uc010ohw.2_Non-coding_Transcript NM_024874 NP_079150 Q8IZA0 K319L_HUMAN Homo sapiens KIAA0319-like (KIAA0319L), mRNA. 439 PKD 2. cytoplasmic vesicle part|integral to membrane protein binding breast(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(12)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1) 34 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) GGTACTGAACGATTTTATCAT 0.393000 78 15 0 0 0.003163 0 0 HMGCS2 3158 broad.mit.edu 37 1 120293530 120293530 + Splice_Site SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr1:120293530C>T uc001eid.3 - 9 1509 c.1421_splice c.e9-1 p.V474_splice HMGCS2_uc010oxj.2_Splice_Site_p.V432_splice|HMGCS2_uc021osw.1_Splice_Site_p.V240_splice NM_005518 NP_005509 P54868 HMCS2_HUMAN Homo sapiens 3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial) (HMGCS2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 474 acetoacetic acid biosynthetic process|cholesterol biosynthetic process|isoprenoid biosynthetic process|ketone body biosynthetic process mitochondrial matrix hydroxymethylglutaryl-CoA synthase activity NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 28 all_cancers(5;6.38e-10)|all_epithelial(5;1.1e-10)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219) all_lung(203;1.29e-06)|Lung NSC(69;9.35e-06)|all_epithelial(167;0.00124) Lung(183;0.0112)|LUSC - Lung squamous cell carcinoma(189;0.0595) GGGAGAAATTCACTGTGGAAT 0.498000 148 39 0 0 0.007835 0 0 OR1N2 138882 broad.mit.edu 37 9 125315479 125315479 + Missense_Mutation SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr9:125315479G>A uc011lyx.2 + 0 31 c.31G>A c.(31-33)Gaa>Aaa p.E11K NM_001004457 NP_001004457 Q8NGR9 OR1N2_HUMAN Homo sapiens olfactory receptor, family 1, subfamily N, member 2 (OR1N2), mRNA. 11 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(3) 26 CAGATCACACGAACTACAAGG 0.453000 42 18 0 0 0.004990 0 0 PRSS1 5644 broad.mit.edu 37 7 142459787 142459787 + Silent SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr7:142459787C>T uc003wak.2 + 2 380 c.363C>T c.(361-363)gcC>gcT p.A121A 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_3'UTR|PRSS1_uc003wam.2_Silent_p.A61A NM_002769 NP_002760 P07477 TRY1_HUMAN Homo sapiens protease, serine, 1 (trypsin 1) (PRSS1), mRNA. 121 Peptidase S1. digestion|proteolysis extracellular space metal ion binding|protein binding|serine-type endopeptidase activity p.A121V(1)|p.A121T(1) 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) TAATCAACGCCCGCGTGTCCA 0.577000 69 17 0 0 0.004990 0 0 CFHR5 81494 broad.mit.edu 37 1 196965275 196965275 + Missense_Mutation SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr1:196965275G>A uc001gts.4 + 5 1042 c.914G>A c.(913-915)gGa>gAa p.G305E NM_030787 NP_110414 Q9BXR6 FHR5_HUMAN Homo sapiens complement factor H-related 5 (CFHR5), mRNA. 305 Sushi 5. complement activation, alternative pathway extracellular region NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2) 49 GCAATGATTGGAAATAACATG 0.363000 60 11 0 0 0.013537 0 0 TINAG 27283 broad.mit.edu 37 6 54254639 54254639 + Silent SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr6:54254639G>A uc003pcj.2 + 10 1493 c.1347G>A c.(1345-1347)agG>agA p.R449R TINAG_uc010jzt.2_Non-coding_Transcript NM_014464 NP_055279 Q9UJW2 TINAG_HUMAN Homo sapiens tubulointerstitial nephritis antigen (TINAG), mRNA. 449 Malpighian tubule morphogenesis|cell adhesion|immune response|proteolysis basement membrane cysteine-type endopeptidase activity|nucleotide binding|polysaccharide binding|scavenger receptor activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1) 34 Lung NSC(77;0.0518) LUSC - Lung squamous cell carcinoma(124;0.246) GCTATTTCAGGATTCTTCGAG 0.388000 82 9 0 0 0.008291 0 0 NME8 51314 broad.mit.edu 37 7 37927934 37927934 + Missense_Mutation SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr7:37927934G>A uc003tfn.3 + 14 1675 c.1303G>A c.(1303-1305)Gat>Aat p.D435N NM_016616 NP_057700 Q8N427 TXND3_HUMAN Homo sapiens thioredoxin domain containing 3 (spermatozoa) (TXNDC3), mRNA. 435 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 GTATGGCAGCGATTCATTAGA 0.393000 37 11 0 0 0.001855 0 0 SYT3 84258 broad.mit.edu 37 19 51140553 51140553 + Missense_Mutation SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr19:51140553C>T uc002pst.3 - 0 750 c.116G>A c.(115-117)cGa>cAa p.R39Q SYT3_uc002psv.3_Missense_Mutation_p.R39Q|SYT3_uc010ycd.2_Missense_Mutation_p.R39Q|Mir_324_uc021uye.1_5'Flank NM_032298 NP_115674 Q9BQG1 SYT3_HUMAN Homo sapiens synaptotagmin III (SYT3), transcript variant 1, mRNA. 39 cell junction|endosome|integral to membrane|synaptic vesicle membrane metal ion binding|transporter activity breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(2)|skin(3)|urinary_tract(2) 35 all_neural(266;0.131) OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188) GCCTCGGATTCGGTCATTGAA 0.632000 107 24 0 0 0.004656 0 0 PCDHB7 56129 broad.mit.edu 37 5 140552966 140552966 + Missense_Mutation SNP G A A rs146757937 TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr5:140552966G>A uc003lit.3 + 0 724 c.550G>A c.(550-552)Gat>Aat p.D184N NM_018940 NP_061763 Q9Y5E2 PCDB7_HUMAN Homo sapiens protocadherin beta 7 (PCDHB7), mRNA. 184 Cadherin 2. 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) TAATGTCCATGATAGCGGGGA 0.478000 39 10 0 0 0.006214 0 0 EXOC4 60412 broad.mit.edu 37 7 133059705 133059705 + Silent SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr7:133059705C>T uc003vrk.3 + 6 1166 c.1131C>T c.(1129-1131)atC>atT p.I377I EXOC4_uc011kpo.2_Silent_p.I276I|EXOC4_uc003vri.3_Silent_p.I377I|EXOC4_uc003vrj.3_Silent_p.I377I NM_021807 NP_068579 Q96A65 EXOC4_HUMAN Homo sapiens exocyst complex component 4 (EXOC4), transcript variant 1, mRNA. 377 vesicle docking involved in exocytosis exocyst protein N-terminus binding NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 50 Esophageal squamous(399;0.129) AGGAAGATATCAAACTGTATG 0.438000 44 5 0 0 0.000602 0 0 RNF216 54476 broad.mit.edu 37 7 5680976 5680976 + Nonsense_Mutation SNP T A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr7:5680976T>A uc003sox.2 - 14 2450 c.2191A>T c.(2191-2193)Aaa>Taa p.K731* RNF216_uc010ksz.2_Nonsense_Mutation_p.K296*|RNF216_uc010kta.2_Nonsense_Mutation_p.K296*|RNF216_uc003soy.2_Nonsense_Mutation_p.K674*|RNF216_uc011jwj.2_Nonsense_Mutation_p.K296* NM_207111 NP_996994 Q9NWF9 RN216_HUMAN Homo sapiens ring finger protein 216 (RNF216), transcript variant 1, mRNA. 674 apoptosis|interspecies interaction between organisms|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination|regulation of defense response to virus by host|regulation of interferon-beta production cytoplasm|nucleus ligase activity|protein binding|zinc ion binding FBXL18/RNF216(2) breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|urinary_tract(4) 33 Ovarian(82;0.07) UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13) TTGTGGCATTTTCTAATGCGG 0.458000 40 7 0 0 0.003080 0 0 ALDH1A2 8854 broad.mit.edu 37 15 58256196 58256196 + Missense_Mutation SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr15:58256196G>A uc002aex.3 - 8 1246 c.973C>T c.(973-975)Cgc>Tgc p.R325C ALDH1A2_uc010ugv.2_Missense_Mutation_p.R304C|ALDH1A2_uc002aey.3_Missense_Mutation_p.R287C|ALDH1A2_uc010ugw.2_Missense_Mutation_p.R296C|ALDH1A2_uc002aew.3_Missense_Mutation_p.R229C NM_003888 NP_733798 O94788 AL1A2_HUMAN Homo sapiens aldehyde dehydrogenase 1 family, member A2 (ALDH1A2), transcript variant 1, mRNA. 325 negative regulation of cell proliferation|neural tube development|response to cytokine stimulus nucleus 3-chloroallyl aldehyde dehydrogenase activity|retinal binding|retinal dehydrogenase activity NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|prostate(1)|upper_aerodigestive_tract(1) 31 GBM - Glioblastoma multiforme(80;0.152)|all cancers(107;0.18) NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162) ACGAAGATGCGAGAGCCTGCA 0.562000 46 15 0 0 0.003163 0 0 NLRP7 199713 broad.mit.edu 37 19 55450331 55450331 + Missense_Mutation SNP T G G TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr19:55450331T>G uc002qih.4 - 3 1932 c.1856A>C c.(1855-1857)aAa>aCa p.K619T NLRP7_uc010esk.3_Missense_Mutation_p.K619T|NLRP7_uc002qig.4_Missense_Mutation_p.K619T|NLRP7_uc002qii.4_Missense_Mutation_p.K619T|NLRP7_uc010esl.3_Missense_Mutation_p.K647T NM_206828 NP_996611 Q8WX94 NALP7_HUMAN Homo sapiens NLR family, pyrin domain containing 7 (NLRP7), transcript variant 2, mRNA. 619 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) CAGTGAGAGTTTCTGCAAGTC 0.443000 51 4 0 0 0.009096 0 0 PAK7 57144 broad.mit.edu 37 20 9520198 9520198 + Missense_Mutation SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr20:9520198C>T uc002wnl.2 - 10 2616 c.2071G>A c.(2071-2073)Gcc>Acc p.A691T PAK7_uc002wnk.2_Missense_Mutation_p.A691T|PAK7_uc002wnj.2_Missense_Mutation_p.A691T|PAK7_uc010gby.1_Missense_Mutation_p.A604T NM_020341 NP_817127 Q9P286 PAK7_HUMAN Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 7 (PAK7), transcript variant 1, mRNA. 691 Protein kinase. ATP binding|protein binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3) 81 COAD - Colon adenocarcinoma(9;0.194) AGTTCCTGGGCTGTTGCTCTC 0.507000 156 29 0 0 0.006320 0 0 KIR3DL2 3812 broad.mit.edu 37 19 55363708 55363708 + Missense_Mutation SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr19:55363708C>T uc002qho.4 + 2 359 c.326C>T c.(325-327)cCc>cTc p.P109L KIR3DL2_uc002qhl.4_Intron|KIR3DL2_uc002qhn.1_Intron|KIR3DL2_uc010esh.3_Missense_Mutation_p.P109L NM_006737 NP_006728 P43630 KI3L2_HUMAN Homo sapiens killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 2 (KIR3DL2), transcript variant 1, mRNA. 109 cellular defense response|regulation of immune response integral to plasma membrane receptor activity breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 23 GBM - Glioblastoma multiforme(193;0.0192) TGGTCGGCACCCAGCAACCCC 0.607000 100 24 0 0 0.004656 0 0 COL11A2 1302 broad.mit.edu 37 6 33156203 33156203 + Missense_Mutation SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr6:33156203G>A uc003ocx.1 - 3 770 c.542C>T c.(541-543)cCa>cTa p.P181L COL11A2_uc003ocy.1_Missense_Mutation_p.P181L|COL11A2_uc003ocz.1_Missense_Mutation_p.P181L|COL11A2_uc003oda.3_Missense_Mutation_p.P181L NM_080680 NP_542411 P13942 COBA2_HUMAN Homo sapiens collagen, type XI, alpha 2 (COL11A2), transcript variant 1, mRNA. 181 TSP N-terminal. cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development collagen type XI extracellular matrix structural constituent conferring tensile strength|protein binding, bridging biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6) 68 GTCCAATACTGGACGAGCACT 0.547000 65 21 0 0 0.010504 0 0 CHD9 80205 broad.mit.edu 37 16 53283919 53283919 + Missense_Mutation SNP A T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr16:53283919A>T uc002ehb.3 + 15 3966 c.3802A>T c.(3802-3804)Act>Tct p.T1268S CHD9_uc002egy.3_Missense_Mutation_p.T1268S|CHD9_uc002ehc.3_Missense_Mutation_p.T1268S|CHD9_uc002ehf.3_Missense_Mutation_p.T382S|CHD9_uc002ehg.2_Missense_Mutation_p.T382S|CHD9_uc002ehd.2_Missense_Mutation_p.T794S NM_025134 NP_079410 Q3L8U1 CHD9_HUMAN Homo sapiens chromodomain helicase DNA binding protein 9 (CHD9), mRNA. 1268 Helicase C-terminal. cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleoplasm ATP binding|DNA binding|helicase activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 78 all_cancers(37;0.0212) CATCAACTTAACTGCAGCTGA 0.353000 83 18 0 0 0.010504 0 0 SH2B2 10603 broad.mit.edu 37 7 101957774 101957774 + Missense_Mutation SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr7:101957774C>T uc011kko.2 + 5 1220 c.1175C>T c.(1174-1176)cCc>cTc p.P392L NM_020979 NP_066189 O14492 SH2B2_HUMAN Homo sapiens SH2B adaptor protein 2 (SH2B2), mRNA. 436 blood coagulation|insulin receptor signaling pathway|intracellular signal transduction cytosol|plasma membrane JAK pathway signal transduction adaptor activity|SH3/SH2 adaptor activity|signal transducer activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1) 9 GCAGGGGGGCCCCGGAACCAC 0.627000 27 4 0 0 0.009096 0 0 C1orf194 127003 broad.mit.edu 37 1 109650610 109650610 + Nonsense_Mutation SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr1:109650610C>T uc009wev.3 - 1 199 c.131G>A c.(130-132)tGg>tAg p.W44* C1orf194_uc001dwp.4_Intron|C1orf194_uc009wew.3_Nonsense_Mutation_p.W32* NM_001122961 NP_001116433 Q5T5A4 CA194_HUMAN Homo sapiens chromosome 1 open reading frame 194 (C1orf194), mRNA. 44 large_intestine(2)|lung(2)|ovary(2) 6 GAGCCGACTCCAGGGTTCCTG 0.473000 141 34 0 0 0.003755 0 0 UNC79 57578 broad.mit.edu 37 14 94044256 94044256 + Silent SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr14:94044256C>T uc001ybv.1 + 14 1832 c.1749C>T c.(1747-1749)ttC>ttT p.F583F UNC79_uc001ybs.1_Silent_p.F583F NM_020818 NP_065869 Q9P2D8 UNC79_HUMAN Homo sapiens unc-79 homolog (C. elegans) (UNC79), mRNA. 760 integral to membrane breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4) 118 ATAGTCCTTTCCAGAGTCCGT 0.453000 150 40 0 0 0.010771 0 0 MYOF 26509 broad.mit.edu 37 10 95107489 95107489 + Silent SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr10:95107489G>A uc001kin.3 - 36 4257 c.4134C>T c.(4132-4134)atC>atT p.I1378I MYOF_uc001kio.3_Silent_p.I1365I|MYOF_uc009xue.3_Non-coding_Transcript NM_013451 NP_038479 Q9NZM1 MYOF_HUMAN Homo sapiens myoferlin (MYOF), transcript variant 1, mRNA. 1378 blood circulation|muscle contraction|plasma membrane repair caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane phospholipid binding|protein binding NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 67 GCCTGTGGTCGATGACCTTGA 0.572000 37 15 0 0 0.003163 0 0 ZNF831 128611 broad.mit.edu 37 20 57766789 57766789 + Missense_Mutation SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr20:57766789G>A uc002yan.3 + 0 715 c.715G>A c.(715-717)Gaa>Aaa p.E239K NM_178457 NP_848552 Q5JPB2 ZN831_HUMAN Homo sapiens zinc finger protein 831 (ZNF831), mRNA. 239 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) GGGGATGCACGAAGGCGCCTC 0.701000 60 14 0 0 0.004007 0 0 CD55 1604 broad.mit.edu 37 1 207499049 207499049 + Silent SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr1:207499049C>T uc001hfq.4 + 3 855 c.561C>T c.(559-561)tcC>tcT p.S187S CD55_uc001hfr.4_Silent_p.S187S|CD55_uc010psf.2_Non-coding_Transcript|CD55_uc009xcf.3_Silent_p.S123S|CD55_uc009xce.3_Silent_p.S187S NM_000574 NP_000565 P08174 DAF_HUMAN Homo sapiens CD55 molecule, decay accelerating factor for complement (Cromer blood group) (CD55), transcript variant 1, mRNA. 187 Sushi 3. S -> T (in Ref. 9; AAB48622). complement activation, classical pathway|elevation of cytosolic calcium ion concentration|innate immune response|respiratory burst anchored to membrane|extracellular region|integral to plasma membrane|membrane raft|soluble fraction receptor activity breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1) 16 Chloramphenicol(DB00446) CAACCATCTCCTTCTCATGTA 0.373000 41 10 0 0 0.010729 0 0 NLRC5 84166 broad.mit.edu 37 16 57056215 57056215 + Nonsense_Mutation SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr16:57056215C>T uc021tiu.1 + 2 470 c.343C>T c.(343-345)Cag>Tag p.Q115* NLRC5_uc021tit.1_Nonsense_Mutation_p.Q115*|NLRC5_uc010ccq.1_Non-coding_Transcript NM_032206 NP_115582 Q86WI3 NLRC5_HUMAN Homo sapiens NLR family, CARD domain containing 5 (NLRC5), mRNA. 115 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 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) ACCTGAATCTCAGCTCCACCA 0.602000 19 4 0 0 0.009096 0 0 CHCHD8 51287 broad.mit.edu 37 11 73584408 73584408 + Missense_Mutation SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr11:73584408G>A uc021qne.1 - 0 16 c.16C>T c.(16-18)Cct>Tct p.P6S CHCHD8_uc001ouj.3_Missense_Mutation_p.P6S NM_016565 NP_057649 Q9NYJ1 CHCH8_HUMAN Homo sapiens coiled-coil-helix-coiled-coil-helix domain containing 8 (CHCHD8), mRNA. 6 lung(2) 2 Breast(11;7.42e-05) TGGCCTTGAGGGACTGAGGTT 0.502000 77 9 0 0 0.006214 0 0 FAM13C 220965 broad.mit.edu 37 10 61014154 61014154 + Missense_Mutation SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr10:61014154C>T uc010qif.1 - 10 1418 c.1352G>A c.(1351-1353)aGa>aAa p.R451K FAM13C_uc010qid.2_Missense_Mutation_p.R346K|FAM13C_uc001jkn.3_Missense_Mutation_p.R429K|FAM13C_uc001jko.3_Missense_Mutation_p.R331K|FAM13C_uc010qie.2_Missense_Mutation_p.R346K|FAM13C_uc001jkp.3_Missense_Mutation_p.R346K NM_198215 NP_937858 Q8NE31 FA13C_HUMAN Homo sapiens family with sequence similarity 13, member C (FAM13C), transcript variant 1, mRNA. 429 NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 CTTGATAATTCTGTATCGGTC 0.353000 95 28 0 0 0.012213 0 0 ODZ3 55714 broad.mit.edu 37 4 183651352 183651352 + Splice_Site SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr4:183651352G>A uc003ivd.1 + 14 2661 c.2586_splice c.e14-1 p.S862_splice ODZ3_uc003ive.1_Splice_Site_p.S268_splice NM_001080477 NP_001073946 Q9P273 TEN3_HUMAN Homo sapiens odz, odd Oz/ten-m homolog 3 (Drosophila) (ODZ3), mRNA. 862 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) TTTTCCAACAGCCTTGCATCT 0.373000 62 15 0 0 0.003163 0 0 LRP2 4036 broad.mit.edu 37 2 170002290 170002290 + Nonsense_Mutation SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr2:170002290G>A uc002ues.3 - 69 13168 c.12955C>T c.(12955-12957)Cga>Tga p.R4319* NM_004525 NP_004516 P98164 LRP2_HUMAN Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA. 4319 hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome SH3 domain binding|calcium ion binding|receptor activity p.R4319Q(1) biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13) 315 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) TGAAAGATTCGAACTTGAGTG 0.363000 51 7 0 0 0.003080 0 0 STK11IP 114790 broad.mit.edu 37 2 220471783 220471783 + Silent SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr2:220471783C>T uc002vml.3 + 12 1219 c.1176C>T c.(1174-1176)gtC>gtT p.V392V STK11IP_uc010zll.2_Silent_p.V349V|STK11IP_uc002vmm.1_Silent_p.V381V NM_052902 NP_443134 Q8N1F8 S11IP_HUMAN Homo sapiens serine/threonine kinase 11 interacting protein (STK11IP), mRNA. 392 protein localization cytoplasm protein kinase binding breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1) 23 Renal(207;0.0183) Epithelial(149;2.69e-07)|all cancers(144;5.91e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) AGAGCCGAGTCCGTGTGAGGC 0.577000 35 9 0 0 0.008291 0 0 ALMS1 7840 broad.mit.edu 37 2 73716847 73716847 + Silent SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr2:73716847C>T uc002sje.1 + 9 7869 c.7758C>T c.(7756-7758)ttC>ttT p.F2586F ALMS1_uc002sjf.1_Silent_p.F2544F|ALMS1_uc002sjg.3_Silent_p.F1974F|ALMS1_uc002sjh.1_Silent_p.F1974F NM_015120 NP_055935 Q8TCU4 ALMS1_HUMAN Homo sapiens Alstrom syndrome 1 (ALMS1), mRNA. 2586 G2/M transition of mitotic cell cycle centrosome|cilium|cytosol|microtubule basal body|spindle pole breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 147 AGGGATGTTTCCGGACTCTAA 0.458000 71 17 0 0 0.004007 0 0 FASTKD1 79675 broad.mit.edu 37 2 170428491 170428491 + Missense_Mutation SNP G A A rs150394417 TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr2:170428491G>A uc002uev.4 - 1 437 c.49C>T c.(49-51)Cgt>Tgt p.R17C FASTKD1_uc002uew.4_Non-coding_Transcript|FASTKD1_uc002uex.4_Missense_Mutation_p.R3C|FASTKD1_uc002uey.2_Missense_Mutation_p.R3C NM_024622 NP_078898 Q53R41 FAKD1_HUMAN Homo sapiens FAST kinase domains 1 (FASTKD1), mRNA. 17 apoptosis|cellular respiration mitochondrion ATP binding|protein kinase activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(5)|large_intestine(10)|lung(9)|ovary(4)|prostate(3) 37 GCTCTTAGACGAAGCATATTT 0.363000 41 4 0 0 0.009096 0 0 TP63 8626 broad.mit.edu 37 3 189612176 189612176 + Missense_Mutation SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr3:189612176G>A uc003fry.2 + 13 2017 c.1928G>A c.(1927-1929)cGa>cAa p.R643Q TP63_uc003frz.2_3'UTR|TP63_uc010hzc.1_3'UTR|TP63_uc003fsc.2_Missense_Mutation_p.R549Q|TP63_uc003fsd.2_3'UTR|TP63_uc021xir.1_3'UTR|TP63_uc010hzd.1_Missense_Mutation_p.R464Q NM_003722 NP_003713 Q9H3D4 P63_HUMAN Homo sapiens tumor protein p63 (TP63), transcript variant 1, mRNA. 643 Transactivation inhibition. 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|Notch signaling pathway|anti-apoptosis|cellular response to UV|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to X-ray|response to gamma radiation Golgi apparatus|chromatin|cytosol|dendrite|transcription factor complex chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6) 61 all_cancers(143;3.35e-10)|Ovarian(172;0.0925) Lung(62;3.33e-05) GBM - Glioblastoma multiforme(93;0.0227) GATGCTGTGCGATTCACCCTC 0.552000 HNSCC(45;0.13) 79 15 0 0 0.004007 0 0 UNC79 57578 broad.mit.edu 37 14 94041415 94041415 + Silent SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr14:94041415G>A uc001ybv.1 + 13 1634 c.1551G>A c.(1549-1551)gaG>gaA p.E517E UNC79_uc001ybs.1_Silent_p.E517E NM_020818 NP_065869 Q9P2D8 UNC79_HUMAN Homo sapiens unc-79 homolog (C. elegans) (UNC79), mRNA. 694 integral to membrane breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4) 118 TATTATCGGAGTTAGATATCA 0.323000 21 7 0 0 0.003080 0 0 OR9G4 283189 broad.mit.edu 37 11 56510651 56510651 + Missense_Mutation SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr11:56510651C>T uc010rjo.2 - 0 637 c.637G>A c.(637-639)Gtc>Atc p.V213I NM_001005284 NP_001005284 Q8NGQ1 OR9G4_HUMAN Homo sapiens olfactory receptor, family 9, subfamily G, member 4 (OR9G4), mRNA. 213 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 34 CCAAGCAGGACTTTTTCGTAG 0.453000 41 8 0 0 0.003080 0 0 CCDC116 164592 broad.mit.edu 37 22 21988630 21988630 + Missense_Mutation SNP G C C TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr22:21988630G>C uc002zve.3 + 2 485 c.392G>C c.(391-393)aGc>aCc p.S131T CCDC116_uc011aih.1_Missense_Mutation_p.S131T NM_152612 NP_689825 Q8IYX3 CC116_HUMAN Homo sapiens coiled-coil domain containing 116 (CCDC116), mRNA. 131 endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(5) 22 Colorectal(54;0.105) CCCAGCCTCAGCACCGTACAC 0.657000 84 14 0 0 0.006122 0 0 MUC16 94025 broad.mit.edu 37 19 9082689 9082689 + Silent SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr19:9082689G>A uc002mkp.3 - 0 9330 c.9126C>T c.(9124-9126)ttC>ttT p.F3042F NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 3043 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 TGGGGGAAAGGAAGCTTGTTT 0.483000 67 25 0 0 0.003330 0 0 CSMD2 114784 broad.mit.edu 37 1 34285407 34285407 + Missense_Mutation SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr1:34285407C>T uc001bxm.1 - 8 1408 c.1231G>A c.(1231-1233)Gag>Aag p.E411K CSMD2_uc001bxn.1_Missense_Mutation_p.E371K NM_052896 NP_443128 Q7Z408 CSMD2_HUMAN Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA. 371 CUB 3. 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) TCATAGCCCTCGTTGCAGGTG 0.607000 43 4 0 0 0.000602 0 0 CUL9 23113 broad.mit.edu 37 6 43164422 43164422 + Silent SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr6:43164422C>T uc003ouk.3 + 10 2700 c.2625C>T c.(2623-2625)aaC>aaT p.N875N CUL9_uc003oul.3_Silent_p.N875N|CUL9_uc010jyk.3_Silent_p.N27N NM_015089 NP_055904 Q8IWT3 CUL9_HUMAN Homo sapiens cullin 9 (CUL9), mRNA. 875 ubiquitin-dependent protein catabolic process cullin-RING ubiquitin ligase complex|cytoplasm ATP binding|ubiquitin protein ligase binding|zinc ion binding 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 TCCTGCTCAACCTACTTTTGT 0.502000 87 25 0 0 0.003954 0 0 MUC2 4583 broad.mit.edu 37 11 1093904 1093904 + Missense_Mutation SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr11:1093904C>T uc001lsx.1 + 31 5738 c.5711C>T c.(5710-5712)cCa>cTa p.P1904L NM_002457 NP_002448 Q02817 MUC2_HUMAN Homo sapiens mucin 2, oligomeric mucus/gel-forming (MUC2), mRNA. 1980 inner mucus layer|outer mucus layer protein binding NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 102 all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191) BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) Pranlukast(DB01411) ACACTGTCTCCACCGCCCAGC 0.647000 51 5 0 0 0.000602 0 0 SEZ6 124925 broad.mit.edu 37 17 27308743 27308743 + Missense_Mutation SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr17:27308743G>A uc002hdp.2 - 1 564 c.370C>T c.(370-372)Cca>Tca p.P124S SEZ6_uc002hdm.2_Non-coding_Transcript|SEZ6_uc010cry.1_Missense_Mutation_p.P124S|SEZ6_uc002hdq.1_5'UTR|SEZ6_uc010crz.1_Missense_Mutation_p.P124S NM_178860 NP_849191 Q53EL9 SEZ6_HUMAN Homo sapiens seizure related 6 homolog (mouse) (SEZ6), transcript variant 1, mRNA. 124 Pro-rich. integral to membrane|plasma membrane p.T123I(1) breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 29 Lung NSC(42;0.0137) Epithelial(11;4.73e-06)|all cancers(11;2.91e-05)|BRCA - Breast invasive adenocarcinoma(11;8.06e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.111) GCCATGGCTGGAGTGGGGCTG 0.647000 37 6 0 0 0.001984 0 0 RACGAP1P 83956 broad.mit.edu 37 12 45458979 45458979 + RNA SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr12:45458979C>T uc001rol.3 - 0 c.216G>A Homo sapiens Rac GTPase activating protein 1 pseudogene (RACGAP1P), non-coding RNA. CCTTGTATTTCCCCAGCTCAT 0.433000 14 4 0 0 0.000602 0 0 DHX16 8449 broad.mit.edu 37 6 30632959 30632959 + Silent SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr6:30632959G>A uc003nqz.3 - 5 1226 c.1014C>T c.(1012-1014)tcC>tcT p.S338S DHX16_uc011dmo.2_Silent_p.S278S NM_003587 NP_003578 O60231 DHX16_HUMAN Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 16 (DHX16), transcript variant 1, mRNA. 338 RNA splicing|mRNA processing nucleus ATP binding|ATP-dependent helicase activity|RNA helicase activity|nucleic acid binding kidney(2)|ovary(2) 4 CAAACTTCAGGGACGCTGCCC 0.642000 28 4 0 0 0.000602 0 0 C12orf51 283450 broad.mit.edu 37 12 112699194 112699194 + Silent SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr12:112699194G>A uc021reb.1 - 17 2752 c.2356C>T c.(2356-2358)Ctg>Ttg p.L786L C12orf51_uc010syk.1_Silent_p.L321L|C12orf51_uc001tts.2_Silent_p.L321L|C12orf51_uc001ttt.3_Silent_p.L319L 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 CATCCAGTCAGGATTTGGGTG 0.413000 69 21 0 0 0.003330 0 0 ST18 9705 broad.mit.edu 37 8 53077726 53077726 + Missense_Mutation SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr8:53077726G>A uc003xqz.2 - 6 1420 c.1264C>T c.(1264-1266)Cat>Tat p.H422Y ST18_uc011ldq.1_Missense_Mutation_p.H69Y|ST18_uc011ldr.1_Missense_Mutation_p.H387Y|ST18_uc011lds.1_Missense_Mutation_p.H327Y|ST18_uc003xra.2_Missense_Mutation_p.H422Y|ST18_uc003xrb.2_Missense_Mutation_p.H422Y NM_014682 NP_055497 O60284 ST18_HUMAN Homo sapiens suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein) (ST18), mRNA. 422 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) CTGTTCACATGACCCCTTCCT 0.403000 177 42 0 0 0.011902 0 0 PVRL4 81607 broad.mit.edu 37 1 161043552 161043552 + Silent SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr1:161043552G>A uc001fxo.2 - 6 1490 c.1191C>T c.(1189-1191)tcC>tcT p.S397S PVRL4_uc010pjy.1_Silent_p.S76S|PVRL4_uc010pjz.1_Silent_p.S131S NM_030916 NP_112178 Q96NY8 PVRL4_HUMAN Homo sapiens poliovirus receptor-related 4 (PVRL4), mRNA. 397 adherens junction organization|cell adhesion|cell junction assembly adherens junction|extracellular region|integral to membrane breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|urinary_tract(1) 20 all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00165) GCCTCCGGATGGAGTTCTCCC 0.607000 51 13 0 0 0.004007 0 0 SPOCD1 90853 broad.mit.edu 37 1 32256508 32256508 + Missense_Mutation SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr1:32256508C>T uc001bts.1 - 15 3405 c.3347G>A c.(3346-3348)gGc>gAc p.G1116D SPOCD1_uc001btr.1_3'UTR|SPOCD1_uc001btu.3_Missense_Mutation_p.G1103D|SPOCD1_uc001btv.3_Missense_Mutation_p.G596D NM_144569 NP_653170 Q6ZMY3 SPOC1_HUMAN Homo sapiens SPOC domain containing 1 (SPOCD1), mRNA. 1116 transcription, DNA-dependent NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2) 37 Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199) STAD - Stomach adenocarcinoma(196;0.18) CTGGCGCAAGCCTGGCTCTGG 0.652000 10 4 0 0 0.009096 0 0 TRIM46 80128 broad.mit.edu 37 1 155156563 155156563 + Missense_Mutation SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr1:155156563C>T uc001fhs.1 + 9 2260 c.2177C>T c.(2176-2178)cCt>cTt p.P726L TRIM46_uc001fht.1_Non-coding_Transcript|TRIM46_uc010pfa.1_Missense_Mutation_p.P600L|TRIM46_uc001fhu.1_Missense_Mutation_p.P703L|TRIM46_uc001fhw.1_Non-coding_Transcript|TRIM46_uc021pao.1_Non-coding_Transcript NM_025058 NP_079334 Q7Z4K8 TRI46_HUMAN Homo sapiens tripartite motif containing 46 (TRIM46), mRNA. 726 B30.2/SPRY. intracellular zinc ion binding NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 29 all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) Epithelial(20;6.62e-10)|all cancers(21;2.68e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193) CCTGTGTGCCCTGCCTTTTGC 0.617000 35 4 0 0 0.009096 0 0 RAB31 11031 broad.mit.edu 37 18 9859235 9859235 + Silent SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr18:9859235C>T uc002kog.2 + 6 676 c.501C>T c.(499-501)atC>atT p.I167I NM_006868 NP_006859 Q13636 RAB31_HUMAN Homo sapiens RAB31, member RAS oncogene family (RAB31), mRNA. 166 protein transport|small GTPase mediated signal transduction plasma membrane GTP binding|GTPase activity breast(2)|endometrium(2)|large_intestine(2)|lung(3)|skin(1) 10 GCCGCCAGATCCCACCCTTGG 0.537000 24 4 0 0 0.009096 0 0 ALMS1 7840 broad.mit.edu 37 2 73677820 73677820 + Missense_Mutation SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr2:73677820G>A uc002sje.1 + 7 4274 c.4163G>A c.(4162-4164)aGt>aAt p.S1388N ALMS1_uc002sjf.1_Missense_Mutation_p.S1346N|ALMS1_uc002sjg.3_Missense_Mutation_p.S776N|ALMS1_uc002sjh.1_Missense_Mutation_p.S776N NM_015120 NP_055935 Q8TCU4 ALMS1_HUMAN Homo sapiens Alstrom syndrome 1 (ALMS1), mRNA. 1388 34 X 47 AA approximate tandem repeat. G2/M transition of mitotic cell cycle centrosome|cilium|cytosol|microtubule basal body|spindle pole breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 147 GAGAAGCCGAGTATTTTCTAC 0.478000 80 22 0 0 0.014323 0 0 CASC1 55259 broad.mit.edu 37 12 25267700 25267700 + Missense_Mutation SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr12:25267700C>T uc001rgk.3 - 12 1583 c.1501G>A c.(1501-1503)Gat>Aat p.D501N CASC1_uc001rgj.3_Missense_Mutation_p.D455N|CASC1_uc001rgm.4_Missense_Mutation_p.D559N|CASC1_uc001rgl.3_Missense_Mutation_p.D495N|CASC1_uc010sje.2_Missense_Mutation_p.D436N|CASC1_uc010sjf.2_Missense_Mutation_p.D383N|CASC1_uc010sjg.1_3'UTR NM_018272 NP_060742 Q6TDU7 CASC1_HUMAN Homo sapiens cancer susceptibility candidate 1 (CASC1), transcript variant 1, mRNA. 495 breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(3)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 31 Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Melanoma(3;0.0301)|Colorectal(261;0.11) OV - Ovarian serous cystadenocarcinoma(3;7.42e-20)|Epithelial(3;7.58e-16)|all cancers(3;1.07e-13) ATATGAGCATCTTGAATCAAG 0.383000 50 10 0 0 0.006214 0 0 HHLA2 11148 broad.mit.edu 37 3 108073967 108073967 + Missense_Mutation SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr3:108073967C>T uc003dwz.3 + 4 838 c.424C>T c.(424-426)Ctc>Ttc p.L142F HHLA2_uc011bhl.2_Missense_Mutation_p.L78F|HHLA2_uc010hpu.3_Missense_Mutation_p.L142F|HHLA2_uc003dwy.4_Missense_Mutation_p.L142F NM_007072 NP_009003 Q9UM44 HHLA2_HUMAN Homo sapiens HERV-H LTR-associating 2 (HHLA2), mRNA. 142 Ig-like C1-type. integral to membrane endometrium(2)|large_intestine(1)|lung(14)|ovary(1) 18 TGTAGTTTTTCTCACACCCGT 0.383000 18 12 0 0 0.001855 0 0 LGALS2 3957 broad.mit.edu 37 22 37966596 37966596 + Missense_Mutation SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr22:37966596C>T uc003ata.3 - 2 348 c.236G>A c.(235-237)gGg>gAg p.G79E NM_006498 NP_006489 P05162 LEG2_HUMAN Homo sapiens lectin, galactoside-binding, soluble, 2 (LGALS2), mRNA. 79 Galectin. p.P78T(2)|p.P78Q(1) breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|stomach(1) 11 Melanoma(58;0.0574) GACCTCTGACCCTGGGCTGAA 0.587000 126 36 0 0 0.006999 0 0 SCN1A 6323 broad.mit.edu 37 2 166905438 166905438 + Missense_Mutation SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr2:166905438C>T uc002udo.4 - 8 1213 c.986G>A c.(985-987)gGt>gAt p.G329D SCN1A_uc010fpk.3_Missense_Mutation_p.G329D|SCN1A_uc021vsb.1_Missense_Mutation_p.G329D NM_001202435 NP_001189364 P35498 SCN1A_HUMAN Homo sapiens sodium channel, voltage-gated, type I, alpha subunit (SCN1A), transcript variant 4, mRNA. 329 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) ATCTAAAAAACCCTCCAGGAA 0.338000 32 8 0 0 0.004482 0 0 NEUROD4 58158 broad.mit.edu 37 12 55420919 55420919 + Silent SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr12:55420919G>A uc001sgp.4 + 1 1074 c.696G>A c.(694-696)ttG>ttA p.L232L NEUROD4_uc021qyr.1_Silent_p.L232L NM_021191 NP_067014 Q9HD90 NDF4_HUMAN Homo sapiens neurogenic differentiation 4 (NEUROD4), mRNA. 232 amacrine cell differentiation|positive regulation of cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1) 41 TCAAGAGTTTGGGAGAATCGT 0.517000 56 11 0 0 0.013537 0 0 SLC35F3 148641 broad.mit.edu 37 1 234454657 234454657 + Missense_Mutation SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr1:234454657G>A uc001hvy.1 + 5 1260 c.1115G>A c.(1114-1116)gGa>gAa p.G372E SLC35F3_uc001hwa.1_Missense_Mutation_p.G303E NM_173508 NP_775779 Q8IY50 S35F3_HUMAN Homo sapiens solute carrier family 35, member F3 (SLC35F3), mRNA. 303 transport integral to membrane breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|urinary_tract(1) 32 Ovarian(103;0.0454) all_cancers(173;0.145)|Prostate(94;0.0885) OV - Ovarian serous cystadenocarcinoma(106;0.00531) ATTCCATGGGGAAACCTTTGT 0.423000 123 11 0 0 0.008291 0 0 CCDC102B 79839 broad.mit.edu 37 18 66678318 66678318 + Missense_Mutation SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr18:66678318G>A uc002lkk.2 + 8 1634 c.1411G>A c.(1411-1413)Gga>Aga p.G471R CCDC102B_uc002lki.2_Missense_Mutation_p.G471R NM_001093729 NP_079057 Q68D86 C102B_HUMAN Homo sapiens coiled-coil domain containing 102B (CCDC102B), transcript variant 1, mRNA. 471 breast(2)|endometrium(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|stomach(1) 36 Esophageal squamous(42;0.0559)|Colorectal(73;0.0604) ACTAAAGCAGGGACTCAATCA 0.383000 32 4 0 0 0.009096 0 0 INPPL1 3636 broad.mit.edu 37 11 71948480 71948480 + Silent SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr11:71948480C>T uc001osf.3 + 25 3339 c.3192C>T c.(3190-3192)ttC>ttT p.F1064F INPPL1_uc001osg.3_Silent_p.F822F NM_001567 NP_001558 O15357 SHIP2_HUMAN Homo sapiens inositol polyphosphate phosphatase-like 1 (INPPL1), mRNA. 1064 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 CAGCCATCTTCCTGCCCCCCA 0.662000 61 18 0 0 0.010504 0 0 DSC3 1825 broad.mit.edu 37 18 28602306 28602306 + Missense_Mutation SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr18:28602306C>T uc002kwj.4 - 6 1093 c.938G>A c.(937-939)aGa>aAa p.R313K DSC3_uc002kwi.4_Missense_Mutation_p.R313K NM_001941 NP_001932 Q14574 DSC3_HUMAN Homo sapiens desmocollin 3 (DSC3), transcript variant Dsc3a, mRNA. 313 Cadherin 2. homophilic cell adhesion|protein stabilization desmosome|integral to membrane|membrane fraction calcium ion binding|gamma-catenin binding endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 56 OV - Ovarian serous cystadenocarcinoma(10;0.125) AGCTACCTCTCTGTCCAAATA 0.433000 91 11 0 0 0.013537 0 0 ADAMTS4 9507 broad.mit.edu 37 1 161166389 161166389 + Silent SNP C T T rs150760814 TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr1:161166389C>T uc001fyt.4 - 1 1343 c.915G>A c.(913-915)tcG>tcA p.S305S ADAMTS4_uc001fyu.2_Silent_p.S305S|NDUFS2_uc001fyv.3_5'Flank NM_005099 NP_005090 O75173 ATS4_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 4 (ADAMTS4), mRNA. 305 Peptidase M12B. proteolysis|skeletal system development extracellular space|proteinaceous extracellular matrix metalloendopeptidase activity|protease binding|zinc ion binding central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(20)|ovary(4)|prostate(3)|skin(1)|urinary_tract(1) 43 all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00275) GGTCAGGGTCCGAGTCCTCAG 0.637000 72 10 0 0 0.013537 0 0 ADH1B 125 broad.mit.edu 37 4 100235103 100235103 + Missense_Mutation SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr4:100235103C>T uc003hus.4 - 5 787 c.703G>A c.(703-705)Gag>Aag p.E235K ADH1B_uc003hut.4_Missense_Mutation_p.E195K|ADH1B_uc011ceh.2_Missense_Mutation_p.E80K|ADH1B_uc011cei.1_Missense_Mutation_p.E195K NM_000668 NP_000659 P00325 ADH1B_HUMAN Homo sapiens alcohol dehydrogenase 1B (class I), beta polypeptide (ADH1B), mRNA. 235 E -> V (in Ref. 13; AAA51592). ethanol oxidation|xenobiotic metabolic process cytosol alcohol dehydrogenase activity, zinc-dependent|zinc ion binding p.K234K(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1) 33 OV - Ovarian serous cystadenocarcinoma(123;1.02e-07) Fomepizole(DB01213)|NADH(DB00157) GCACCCAACTCTTTGGCCTTT 0.483000 271 62 0 0 0.014410 0 0 PCDHGC5 56097 broad.mit.edu 37 5 140745293 140745293 + Missense_Mutation SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr5:140745293C>T uc003lju.2 + 0 1396 c.1396C>T c.(1396-1398)Ccc>Tcc p.P466S 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_Missense_Mutation_p.P466S NM_018918 NP_061741 Q9Y5F6 PCDGM_HUMAN Homo sapiens protocadherin gamma subfamily A, 5 (PCDHGA5), transcript variant 1, mRNA. 468 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) AGAAAACAATCCCAGAGGTGT 0.532000 125 32 0 0 0.009535 0 0 MAK16 84549 broad.mit.edu 37 8 33342733 33342733 + Silent SNP G A A rs147879677 TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr8:33342733G>A uc003xjj.3 + 0 49 c.9G>A c.(7-9)tcG>tcA p.S3S TTI2_uc010lvu.1_Intron NM_032509 NP_115898 Q9BXY0 MAK16_HUMAN Homo sapiens MAK16 homolog (S. cerevisiae) (MAK16), mRNA. 3 nucleolus endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|urinary_tract(1) 8 CCATGCAGTCGGATGATGTGA 0.597000 79 24 0 0 0.007291 0 0 IQUB 154865 broad.mit.edu 37 7 123097526 123097526 + Nonsense_Mutation SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr7:123097526C>T uc003vkn.3 - 11 2679 c.2102G>A c.(2101-2103)tGg>tAg p.W701* IQUB_uc011kny.2_Nonsense_Mutation_p.W34*|IQUB_uc003vko.3_Nonsense_Mutation_p.W701*|IQUB_uc010lkt.3_Non-coding_Transcript NM_178827 NP_849149 Q8NA54 IQUB_HUMAN Homo sapiens IQ motif and ubiquitin domain containing (IQUB), mRNA. 701 breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1) 45 GGATTTATTCCATCTGACCAT 0.473000 117 18 0 0 0.010504 0 0 PRRC2C 23215 broad.mit.edu 37 1 171544202 171544202 + Missense_Mutation SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr1:171544202C>T uc010pmg.2 + 24 7150 c.6884C>T c.(6883-6885)tCg>tTg p.S2295L PRRC2C_uc010pmh.2_Missense_Mutation_p.S1207L|PRRC2C_uc010pmi.2_Missense_Mutation_p.S132L NM_015172 NP_055987 Q9Y520 PRC2C_HUMAN Homo sapiens proline-rich coiled-coil 2C (PRRC2C), mRNA. 2295 protein C-terminus binding AATTACAATTCGTTCTCAAGT 0.443000 24 5 0 0 0.000602 0 0 NR5A2 2494 broad.mit.edu 37 1 200017919 200017919 + Silent SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr1:200017919G>A uc001gvb.3 + 4 1289 c.1083G>A c.(1081-1083)agG>agA p.R361R NR5A2_uc001gvc.3_Silent_p.R315R|NR5A2_uc009wzh.3_Silent_p.R321R|NR5A2_uc010pph.2_Silent_p.R289R NM_205860 NP_995582 O00482 NR5A2_HUMAN Homo sapiens nuclear receptor subfamily 5, group A, member 2 (NR5A2), transcript variant 1, mRNA. 361 Ligand-binding. embryo development|positive regulation of viral genome replication|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor cytoplasm|nucleoplasm lipid binding|protein binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 31 Prostate(682;0.19) AGTGGGCCAGGAGTAGTATCT 0.433000 99 26 0 0 0.010818 0 0 CYP4B1 1580 broad.mit.edu 37 1 47284435 47284435 + Silent SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr1:47284435G>A uc001cqn.4 + 11 1572 c.1488G>A c.(1486-1488)aaG>aaA p.K496K CYP4B1_uc001cqm.4_Silent_p.K495K|CYP4B1_uc009vym.3_Silent_p.K481K|CYP4B1_uc010omk.2_Silent_p.K332K NM_001099772 NP_001093242 P13584 CP4B1_HUMAN Homo sapiens cytochrome P450, family 4, subfamily B, polypeptide 1 (CYP4B1), transcript variant 1, mRNA. 495 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) TGCGCTCCAAGAATGGCTTTC 0.592000 80 25 0 0 0.003954 0 0 SFMBT2 57713 broad.mit.edu 37 10 7213004 7213004 + Silent SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr10:7213004C>T uc009xio.2 - 19 2521 c.2430G>A c.(2428-2430)gaG>gaA p.E810E SFMBT2_uc001ijn.2_Silent_p.E810E|SFMBT2_uc010qay.2_Silent_p.E645E NM_001018039 NP_001018049 Q5VUG0 SMBT2_HUMAN Homo sapiens Scm-like with four mbt domains 2 (SFMBT2), transcript variant 2, mRNA. 810 regulation of transcription, DNA-dependent nucleus NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 99 TCTCCTCCTCCTCCTGTTTCG 0.612000 87 24 0 0 0.003954 0 0 ARID2 196528 broad.mit.edu 37 12 46230613 46230613 + Nonsense_Mutation SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr12:46230613C>T uc001ros.1 + 7 862 c.862C>T c.(862-864)Cag>Tag p.Q288* ARID2_uc001ror.3_Nonsense_Mutation_p.Q288*|ARID2_uc009zkg.1_5'UTR|ARID2_uc009zkh.1_5'Flank|ARID2_uc001rot.1_5'UTR NM_152641 NP_689854 Q68CP9 ARID2_HUMAN Homo sapiens AT rich interactive domain 2 (ARID, RFX-like) (ARID2), mRNA. 288 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding p.L287I(1) 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) GCGGGTACTTCAGATTGCAGT 0.418000 """N, S, F""" hepatocellular carcinoma 60 14 0 0 0.002450 0 0 HTR1E 3354 broad.mit.edu 37 6 87725844 87725844 + Silent SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr6:87725844G>A uc003pli.3 + 1 1495 c.792G>A c.(790-792)agG>agA p.R264R HTR1E_uc021zcg.1_Silent_p.R264R NM_000865 NP_000856 P28566 5HT1E_HUMAN Homo sapiens 5-hydroxytryptamine (serotonin) receptor 1E (HTR1E), mRNA. 264 G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission integral to plasma membrane protein binding|serotonin binding|serotonin receptor activity p.I263V(1) breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3) 41 all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819) BRCA - Breast invasive adenocarcinoma(108;0.055) Eletriptan(DB00216) CCTCCATCAGGATCCCCCCCT 0.502000 112 12 0 0 0.013537 0 0 GABRE 2564 broad.mit.edu 37 X 151128324 151128324 + Silent SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chrX:151128324G>A uc004ffi.3 - 5 825 c.771C>T c.(769-771)atC>atT p.I257I GABRE_uc011myd.2_Non-coding_Transcript|GABRE_uc011mye.1_Non-coding_Transcript|MIR452_uc022cgx.1_5'Flank NM_004961 NP_004952 P78334 GBRE_HUMAN Homo sapiens gamma-aminobutyric acid (GABA) A receptor, epsilon (GABRE), mRNA. 257 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1) 27 Acute lymphoblastic leukemia(192;6.56e-05) CTGGGGTTGTGATTATTTCAG 0.453000 17 17 0 0 0.007413 0 0 PCDHAC2 56134 broad.mit.edu 37 5 140347637 140347637 + Missense_Mutation SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr5:140347637G>A uc003lii.3 + 0 1891 c.1286G>A c.(1285-1287)cGa>cAa p.R429Q 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_uc003lih.2_Intron|PCDHAC2_uc011dag.2_Missense_Mutation_p.R429Q NM_018899 NP_061722 Q9Y5I4 PCDC2_HUMAN Homo sapiens protocadherin alpha subfamily C, 2 (PCDHAC2), transcript variant 1, mRNA. 429 Cadherin 4. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding p.R429R(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) CCACTGGACCGAGAGCGGGTG 0.572000 97 22 0 0 0.002780 0 0 C1orf173 127254 broad.mit.edu 37 1 75039065 75039065 + Missense_Mutation SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr1:75039065C>T uc001dgg.3 - 13 2548 c.2329G>A c.(2329-2331)Gaa>Aaa p.E777K NM_001002912 NP_001002912 Q5RHP9 CA173_HUMAN Homo sapiens chromosome 1 open reading frame 173 (C1orf173), mRNA. 777 Glu-rich. NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5) 184 GCTTCATCTTCCTCCATTGCT 0.488000 94 16 0 0 0.004990 0 0 TSSK1B 83942 broad.mit.edu 37 5 112769837 112769837 + Missense_Mutation SNP T C C TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr5:112769837T>C uc003kqm.2 - 0 892 c.700A>G c.(700-702)Aac>Gac p.N234D MCC_uc003kql.4_Intron NM_032028 NP_114417 Q9BXA7 TSSK1_HUMAN Homo sapiens testis-specific serine kinase 1B (TSSK1B), mRNA. 234 Protein kinase. 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) CGTGGGAAGTTGACGCGGTGC 0.587000 48 15 0 0 0.003163 0 0 MYH14 79784 broad.mit.edu 37 19 50796837 50796837 + Missense_Mutation SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr19:50796837G>A uc010enu.1 + 38 5409 c.5362G>A c.(5362-5364)Gag>Aag p.E1788K MYH14_uc002prq.1_Missense_Mutation_p.E1755K|MYH14_uc002prr.1_Missense_Mutation_p.E1747K|MYH14_uc010ycb.2_Missense_Mutation_p.E98K|MYH14_uc002prs.1_Missense_Mutation_p.E98K NM_001145809 NP_001139281 Q7Z406 MYH14_HUMAN Homo sapiens myosin, heavy chain 14, non-muscle (MYH14), transcript variant 3, mRNA. 1747 axon guidance|regulation of cell shape myosin complex ATP binding|actin binding|calmodulin binding|motor activity central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 46 all_neural(266;0.0571)|Ovarian(192;0.0728) OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195) CATTCTGGAGGAGAAGCGTCA 0.612000 23 11 0 0 0.013537 0 0 SARDH 1757 broad.mit.edu 37 9 136550345 136550345 + Silent SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr9:136550345G>A uc004cep.4 - 16 2267 c.2133C>T c.(2131-2133)acC>acT p.T711T SARDH_uc004ceo.3_Silent_p.T711T|SARDH_uc011mdo.2_Silent_p.T543T|SARDH_uc011mdn.2_Silent_p.T711T|SARDH_uc004cen.3_Silent_p.T139T NM_001134707 NP_009032 Q9UL12 SARDH_HUMAN Homo sapiens sarcosine dehydrogenase (SARDH), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA. 711 glycine catabolic process mitochondrial matrix aminomethyltransferase activity|sarcosine dehydrogenase activity central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3) 44 OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05) GTAGCTTGTGGGTGGAGAACG 0.637000 36 8 0 0 0.006214 0 0 PHTF2 57157 broad.mit.edu 37 7 77549657 77549657 + Missense_Mutation SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr7:77549657C>T uc003ugs.4 + 8 964 c.838C>T c.(838-840)Ctt>Ttt p.L280F PHTF2_uc003ugo.4_Missense_Mutation_p.L242F|PHTF2_uc003ugp.3_Missense_Mutation_p.L242F|PHTF2_uc010ldv.3_Missense_Mutation_p.L242F|PHTF2_uc003ugq.4_Missense_Mutation_p.L242F|PHTF2_uc003ugr.4_Missense_Mutation_p.L246F|PHTF2_uc003ugt.4_Missense_Mutation_p.L246F|PHTF2_uc003ugu.4_Missense_Mutation_p.L242F|PHTF2_uc022agp.1_Missense_Mutation_p.L280F|PHTF2_uc003ugv.3_Missense_Mutation_p.L105F|PHTF2_uc010ldw.2_Missense_Mutation_p.L105F NM_001127357 NP_001120829 Q8N3S3 PHTF2_HUMAN Homo sapiens putative homeodomain transcription factor 2 (PHTF2), transcript variant 1, mRNA. 280 regulation of transcription, DNA-dependent|transcription, DNA-dependent endoplasmic reticulum|nucleus DNA binding endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1) 19 CTATGTATCCCTTGATGGGAA 0.373000 30 5 0 0 0.001984 0 0 ITGB4 3691 broad.mit.edu 37 17 73732427 73732427 + Missense_Mutation SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr17:73732427C>T uc002jpg.3 + 14 2007 c.1820C>T c.(1819-1821)tCg>tTg p.S607L ITGB4_uc002jph.3_Missense_Mutation_p.S607L|ITGB4_uc010dgo.3_Missense_Mutation_p.S607L|ITGB4_uc002jpi.4_Missense_Mutation_p.S607L|ITGB4_uc010dgp.1_Missense_Mutation_p.S607L|ITGB4_uc002jpj.3_Missense_Mutation_p.S607L|ITGB4_uc010wsh.1_Missense_Mutation_p.S162L NM_000213 NP_000204 P16144 ITB4_HUMAN Homo sapiens integrin, beta 4 (ITGB4), transcript variant 1, mRNA. 607 Cysteine-rich tandem repeats. cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding cell leading edge|cell surface|hemidesmosome|integrin complex protein binding|receptor activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1) 43 all_cancers(13;1.5e-07) all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154) CACCAGCAGTCGCTCTACACG 0.637000 65 13 0 0 0.004007 0 0 TSGA10IP 254187 broad.mit.edu 37 11 65714678 65714678 + Missense_Mutation SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr11:65714678C>T uc001ogk.1 + 3 411 c.379C>T c.(379-381)Cca>Tca p.P127S 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. 128 endometrium(2)|kidney(3)|lung(9) 14 GCCAAGCTCCCCAACCCCTGG 0.652000 13 3 0 0 0.004672 0 0 POC1A 25886 broad.mit.edu 37 3 52183354 52183354 + Silent SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr3:52183354G>A uc003dcu.3 - 3 645 c.327C>T c.(325-327)gtC>gtT p.V109V POC1A_uc003dcv.3_Silent_p.V71V|POC1A_uc003dcw.3_Silent_p.V109V NM_015426 NP_001155053 Q8NBT0 POC1A_HUMAN Homo sapiens POC1 centriolar protein homolog A (Chlamydomonas) (POC1A), transcript variant 1, mRNA. 109 centriole|microtubule basal body endometrium(1)|large_intestine(4)|liver(1)|lung(4)|prostate(3)|skin(1) 14 TGCAGAAGTGGACACTCCTCA 0.517000 51 13 0 0 0.001855 0 0 CC2D1A 54862 broad.mit.edu 37 19 14028885 14028885 + Missense_Mutation SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr19:14028885C>T uc002mxo.2 + 6 1050 c.751C>T c.(751-753)Ccc>Tcc p.P251S CC2D1A_uc002mxn.2_Missense_Mutation_p.P150S|CC2D1A_uc002mxp.2_Missense_Mutation_p.P251S|CC2D1A_uc010dzh.2_5'UTR|CC2D1A_uc002mxq.1_5'Flank NM_017721 NP_060191 Q6P1N0 C2D1A_HUMAN Homo sapiens coiled-coil and C2 domain containing 1A (CC2D1A), mRNA. 251 Pro-rich. positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus|plasma membrane DNA binding|signal transducer activity NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(2)|skin(2) 27 OV - Ovarian serous cystadenocarcinoma(19;3.49e-23) CCTTCCAGGTCCCTGCAGCCC 0.537000 47 5 0 0 0.001168 0 0 PRR23B 389151 broad.mit.edu 37 3 138738753 138738754 + Missense_Mutation DNP GG AA AA TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr3:138738753_138738754GG>AA uc003esy.1 - 0 1015_1016 c.750_751CC>TT c.(748-753)ctcccg>ctTTcg p.P251S NM_001013650 NP_001013672 Q6ZRT6 PR23B_HUMAN Homo sapiens proline rich 23B (PRR23B), mRNA. 251 Pro-rich. NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 GGGCGTTCCGGGAGCGGCGAGC 0.673000 38 8 0 0 0.004672 0 0 FSHR 2492 broad.mit.edu 37 2 49217773 49217773 + Silent SNP T C C TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr2:49217773T>C uc002rww.3 - 4 488 c.378A>G c.(376-378)ttA>ttG p.L126L FSHR_uc010fbn.3_Silent_p.L126L|FSHR_uc002rwx.3_Silent_p.L126L|FSHR_uc010fbo.2_Non-coding_Transcript NM_000145 NP_000136 P23945 FSHR_HUMAN Homo sapiens follicle stimulating hormone receptor (FSHR), transcript variant 1, mRNA. 126 female gamete generation|male gonad development|spermatogenesis integral to membrane|plasma membrane follicle-stimulating hormone receptor activity|protein binding NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 73 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094) TGTTGGATATTAACCTAGAGA 0.333000 Gonadal Dysgenesis, 46 XX 53 11 0 0 0.010729 0 0 TXNDC11 51061 broad.mit.edu 37 16 11792183 11792183 + Splice_Site SNP T A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr16:11792183T>A uc010buu.1 - 8 1050 c.988_splice c.e8-1 p.V330_splice TXNDC11_uc002dbg.1_Splice_Site_p.V303_splice NM_015914 NP_056998 Q6PKC3 TXD11_HUMAN Homo sapiens thioredoxin domain containing 11 (TXNDC11), mRNA. 330 cell redox homeostasis endoplasmic reticulum membrane|integral to membrane endometrium(3)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 21 GGGGAAGACCTGTGAAGGACA 0.547000 32 11 0 0 0.008291 0 0 MYBPC1 4604 broad.mit.edu 37 12 102041880 102041880 + Missense_Mutation SNP G C C TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr12:102041880G>C uc001tii.3 + 11 1213 c.1073G>C c.(1072-1074)aGa>aCa p.R358T MYBPC1_uc001tif.2_Missense_Mutation_p.R371T|MYBPC1_uc001tig.3_Missense_Mutation_p.R383T|MYBPC1_uc010svr.2_Missense_Mutation_p.R358T|MYBPC1_uc010svs.2_Missense_Mutation_p.R358T|MYBPC1_uc001tij.3_Missense_Mutation_p.R358T|MYBPC1_uc010svt.2_Missense_Mutation_p.R346T|MYBPC1_uc010svu.2_Missense_Mutation_p.R339T|MYBPC1_uc001tik.3_Missense_Mutation_p.R332T|MYBPC1_uc001tih.3_Missense_Mutation_p.R383T|MYBPC1_uc010svq.2_Missense_Mutation_p.R345T NM_206820 NP_996556 Q00872 MYPC1_HUMAN Homo sapiens myosin binding protein C, slow type (MYBPC1), transcript variant 3, mRNA. 358 Ig-like C2-type 3. cell adhesion|muscle filament sliding cytosol|myofibril|myosin filament actin binding|structural constituent of muscle|titin binding breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2) 57 TGTGGGGAGAGAGTGGAATTA 0.363000 52 12 0 0 0.002450 0 0 SELPLG 6404 broad.mit.edu 37 12 109017969 109017969 + Missense_Mutation SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr12:109017969C>T uc010sxe.2 - 1 340 c.163G>A c.(163-165)Gac>Aac p.D55N SELPLG_uc001tni.3_Missense_Mutation_p.D39N|SELPLG_uc021rdm.1_Missense_Mutation_p.D39N|SELPLG_uc001tnh.3_Missense_Mutation_p.D39N NM_001206609 NP_001193538 Q14242 SELPL_HUMAN Homo sapiens selectin P ligand (SELPLG), transcript variant 1, mRNA. 39 blood coagulation|cellular response to interleukin-6 integral to plasma membrane|membrane fraction bacterial cell surface binding|receptor binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|prostate(3)|skin(1) 12 TGTCTCCGGTCCCGGGCAAGC 0.572000 53 13 0 0 0.003163 0 0 SCAND3 114821 broad.mit.edu 37 6 28554392 28554392 + Missense_Mutation SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr6:28554392C>T uc003nlo.3 - 0 721 c.103G>A c.(103-105)Gat>Aat p.D35N AK056211_uc003nlp.1_5'Flank NM_052923 NP_443155 Q6R2W3 SCND3_HUMAN Homo sapiens SCAN domain containing 3 (SCAND3), mRNA. 35 DNA integration|viral reproduction nucleus DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity p.W34L(1) 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 GATTCCTGATCCCAAGTGTGG 0.517000 53 15 0 0 0.002450 0 0 C11orf48 79081 broad.mit.edu 37 11 62435109 62435109 + Missense_Mutation SNP T A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr11:62435109T>A uc001nuf.3 - 3 640 c.424A>T c.(424-426)Aca>Tca p.T142S METTL12_uc001nuh.3_3'UTR|C11orf48_uc010rmd.1_Missense_Mutation_p.T142S NM_024099 NP_077004 Q9BQE6 CK048_HUMAN Homo sapiens chromosome 11 open reading frame 48 (C11orf48), mRNA. 168 endometrium(1)|lung(5)|urinary_tract(1) 7 AGACATGCTGTGTCCTCAAGA 0.522000 233 109 0 0 0.014410 0 0 TTN 7273 broad.mit.edu 37 2 179596537 179596537 + Missense_Mutation SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr2:179596537C>T uc021vsy.1 - 54 13558 c.13333G>A c.(13333-13335)Gat>Aat p.D4445N TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.D1106N NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 5372 Ig-like 24. 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) ACCAGATGATCCTGAATGAAA 0.502000 110 17 0 0 0.007413 0 0 F2RL1 2150 broad.mit.edu 37 5 76129513 76129513 + Missense_Mutation SNP T A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr5:76129513T>A uc003keo.3 + 1 1256 c.1081T>A c.(1081-1083)Tgc>Agc p.C361S NM_005242 NP_005233 P55085 PAR2_HUMAN Homo sapiens coagulation factor II (thrombin) receptor-like 1 (F2RL1), mRNA. 361 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) CGCTCTCCTTTGCCGAAGTGT 0.458000 419 90 0 0 0.014410 0 0 WDPCP 51057 broad.mit.edu 37 2 63660906 63660906 + Silent SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr2:63660906G>A uc002sch.3 - 8 1260 c.798C>T c.(796-798)ctC>ctT p.L266L WDPCP_uc002sce.3_Non-coding_Transcript|WDPCP_uc002scf.3_Silent_p.L107L|WDPCP_uc010ypu.2_Non-coding_Transcript|WDPCP_uc002scg.3_Silent_p.L74L|WDPCP_uc002sci.2_Silent_p.L242L|WDPCP_uc010fcr.1_Silent_p.L156L NM_015910 NP_056994 O95876 FRITZ_HUMAN Homo sapiens WD repeat containing planar cell polarity effector (WDPCP), mRNA. 266 cilium morphogenesis|regulation of embryonic cell shape|regulation of protein localization|septin cytoskeleton organization cilium axoneme|cytoplasm|cytoskeleton|plasma membrane central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(19)|ovary(1)|skin(1) 35 CATAACCCAGGAGGAGTAGAT 0.383000 39 6 0 0 0.001984 0 0 FAM221B 392307 broad.mit.edu 37 9 35826156 35826156 + Missense_Mutation SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr9:35826156C>T uc010mlc.2 - 1 288 c.3G>A c.(1-3)atG>atA p.M1I FAM221B_uc003zyj.2_Non-coding_Transcript|FAM221B_uc011lpg.1_Missense_Mutation_p.M1I NM_001012446 NP_001012448 A6H8Z2 CI128_HUMAN Homo sapiens chromosome 9 open reading frame 128 (C9orf128), mRNA. 1 endometrium(2)|kidney(1)|lung(4) 7 CATGTGCTTCCATCTAGTGGT 0.507000 OREG0019180 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 52 10 0 0 0.013537 0 0 CHGB 1114 broad.mit.edu 37 20 5903702 5903702 + Silent SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr20:5903702G>A uc002wmg.3 + 3 1218 c.912G>A c.(910-912)aaG>aaA p.K304K CHGB_uc010zqz.2_5'UTR NM_001819 NP_001810 P05060 SCG1_HUMAN Homo sapiens chromogranin B (secretogranin 1) (CHGB), mRNA. 304 extracellular region hormone activity breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1) 47 CTGAGGAAAAGGGACACCCCC 0.587000 12 8 0 0 0.003080 0 0 FAM40B 57464 broad.mit.edu 37 7 129091522 129091522 + Missense_Mutation SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr7:129091522C>T uc011koy.2 + 3 383 c.343C>T c.(343-345)Cgg>Tgg p.R115W FAM40B_uc003vow.3_Missense_Mutation_p.R115W NM_020704 NP_065755 Q9ULQ0 FA40B_HUMAN Homo sapiens family with sequence similarity 40, member B (FAM40B), transcript variant 1, mRNA. 115 breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 ACTCTTGGACCGGCTAGAGGT 0.552000 57 13 0 0 0.013537 0 0 SFTPA1 653509 broad.mit.edu 37 10 81372117 81372117 + Silent SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr10:81372117G>A uc009xry.3 + 3 349 c.267G>A c.(265-267)ggG>ggA p.G89G SFTPA1_uc001kap.3_Silent_p.G74G|SFTPA1_uc001kar.3_Silent_p.G74G|SFTPA1_uc001kaq.3_Silent_p.G74G|SFTPA1_uc001kao.3_Intron|SFTPA1_uc021puu.1_Intron|SFTPA1_uc010qlt.2_Silent_p.G15G|SFTPA1_uc009xrz.3_Intron NM_001093770 NP_005402 Q8IWL2 SFTA1_HUMAN Homo sapiens surfactant protein A1 (SFTPA1), transcript variant 2, mRNA. 74 Collagen-like. cell junction assembly|respiratory gaseous exchange collagen|extracellular space lipid transporter activity|sugar binding endometrium(1)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 12 all_cancers(46;0.197)|Breast(12;0.000326)|Prostate(51;0.00985)|all_epithelial(25;0.0149) Epithelial(14;0.00957)|all cancers(16;0.0179)|Colorectal(32;0.229) GAAATGATGGGCTGCCTGGAG 0.607000 171 46 0 0 0.014410 0 0 RYR1 6261 broad.mit.edu 37 19 38939119 38939119 + Missense_Mutation SNP A G G TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr19:38939119A>G uc002oit.3 + 9 1055 c.925A>G c.(925-927)Aag>Gag p.K309E RYR1_uc002oiu.3_Missense_Mutation_p.K309E NM_000540 NP_000531 P21817 RYR1_HUMAN Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA. 309 MIR 4. muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia I band|cell cortex|cytosol|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7) 285 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) GGCTCACACCAAGGCTACCTC 0.652000 115 29 0 0 0.012213 0 0 SLC26A4 5172 broad.mit.edu 37 7 107314718 107314718 + Missense_Mutation SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr7:107314718G>A uc003vep.3 + 4 749 c.525G>A c.(523-525)atG>atA p.M175I Mir_548_uc022ajy.1_5'Flank NM_000441 NP_000432 O43511 S26A4_HUMAN Homo sapiens solute carrier family 26, member 4 (SLC26A4), mRNA. 175 regulation of pH|regulation of protein localization|sensory perception of sound apical plasma membrane|integral to membrane chloride transmembrane transporter activity|inorganic anion exchanger activity|iodide transmembrane transporter activity|secondary active sulfate transmembrane transporter activity p.M175I(2) central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2) 46 ATACTACTATGATAGACACTG 0.433000 Pendred syndrome 76 16 0 0 0.006122 0 0 UTRN 7402 broad.mit.edu 37 6 144844169 144844170 + Missense_Mutation DNP GG AA AA TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr6:144844169_144844170GG>AA uc003qkt.3 + 39 5843_5844 c.5751_5752GG>AA c.(5749-5754)ctggac>ctAAac p.D1918N NM_007124 NP_009055 P46939 UTRO_HUMAN Homo sapiens utrophin (UTRN), mRNA. 1918 muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane actin binding|calcium ion binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 148 Ovarian(120;0.218) OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213) AAGACCAACTGGACAAACTTGG 0.356000 30 8 0 0 0.004672 0 0 SLITRK6 84189 broad.mit.edu 37 13 86368845 86368845 + Missense_Mutation SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr13:86368845G>A uc001vll.1 - 1 2258 c.1799C>T c.(1798-1800)tCt>tTt p.S600F SLITRK6_uc021rla.1_Missense_Mutation_p.S600F NM_032229 NP_115605 Q9H5Y7 SLIK6_HUMAN Homo sapiens SLIT and NTRK-like family, member 6 (SLITRK6), mRNA. 600 integral to membrane p.R599*(1) 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) GTCCGTAAGAGATCGTAAAAT 0.418000 53 12 0 0 0.001855 0 0 ST18 9705 broad.mit.edu 37 8 53038684 53038684 + Missense_Mutation SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr8:53038684G>A uc003xqz.2 - 17 2839 c.2683C>T c.(2683-2685)Ctc>Ttc p.L895F ST18_uc011ldq.1_Missense_Mutation_p.L542F|ST18_uc011ldr.1_Missense_Mutation_p.L860F|ST18_uc011lds.1_Missense_Mutation_p.L800F|ST18_uc003xra.2_Missense_Mutation_p.L895F NM_014682 NP_055497 O60284 ST18_HUMAN Homo sapiens suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein) (ST18), mRNA. 895 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) TGTGCATTGAGAGGACATCCA 0.363000 51 6 0 0 0.001168 0 0 OR2G3 81469 broad.mit.edu 37 1 247769773 247769773 + Missense_Mutation SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr1:247769773G>A uc010pyz.2 + 0 886 c.886G>A c.(886-888)Gat>Aat p.D296N NM_001001914 NP_001001914 Q8NGZ4 OR2G3_HUMAN Homo sapiens olfactory receptor, family 2, subfamily G, member 3 (OR2G3), mRNA. 296 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(31)|skin(5) 50 all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) OV - Ovarian serous cystadenocarcinoma(106;0.017) AAGGAACAAGGATATGAAAGA 0.418000 63 13 0 0 0.001855 0 0 TEX15 56154 broad.mit.edu 37 8 30706271 30706271 + Missense_Mutation SNP G A A rs146070106 TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr8:30706271G>A uc003xil.3 - 0 263 c.263C>T c.(262-264)tCg>tTg p.S88L TEX15_uc011lbc.2_Missense_Mutation_p.S475L NM_031271 NP_112561 Q9BXT5 TEX15_HUMAN Homo sapiens testis expressed 15 (TEX15), mRNA. 88 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) AGATGGTGTCGATTTTATTTC 0.383000 34 5 0 0 0.001168 0 0 RP1L1 94137 broad.mit.edu 37 8 10468112 10468112 + Missense_Mutation SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr8:10468112C>T uc003wtc.3 - 3 3725 c.3496G>A c.(3496-3498)Gac>Aac p.D1166N NM_178857 NP_849188 A6NKC6 A6NKC6_HUMAN Homo sapiens retinitis pigmentosa 1-like 1 (RP1L1), mRNA. 1166 intracellular signal transduction breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3) 148 COAD - Colon adenocarcinoma(149;0.0811) TCCAGCTGGTCTTCCCCAACG 0.602000 44 13 0 0 0.001855 0 0 C12orf63 374467 broad.mit.edu 37 12 97043723 97043723 + Missense_Mutation SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr12:97043723C>T uc021rcc.1 + 1 98 c.20C>T c.(19-21)tCc>tTc p.S7F Q6ZTY8 CL063_HUMAN RecName: Full=Putative uncharacterized protein C12orf63; 7 breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2) 54 GAAAATATGTCCAAGACACAA 0.303000 36 5 0 0 0.000602 0 0 GLDN 342035 broad.mit.edu 37 15 51696536 51696536 + Missense_Mutation SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr15:51696536G>A uc002aba.3 + 9 1410 c.1241G>A c.(1240-1242)cGa>cAa p.R414Q GLDN_uc002abb.3_Missense_Mutation_p.R290Q NM_181789 NP_861454 Q6ZMI3 GLDN_HUMAN Homo sapiens gliomedin (GLDN), mRNA. 414 Olfactomedin-like. cell differentiation|nervous system development collagen|integral to membrane|plasma membrane central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 19 all cancers(107;0.00194)|GBM - Glioblastoma multiforme(94;0.00942) TATTTTGATCGAAAATACCTT 0.373000 101 16 0 0 0.004990 0 0 AKR1CL1 340811 broad.mit.edu 37 10 5204876 5204876 + RNA SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr10:5204876G>A uc009xhz.2 - 1 c.284C>T Homo sapiens aldo-keto reductase family 1, member C-like 1 (AKR1CL1), non-coding RNA. cervix(1)|endometrium(1)|large_intestine(2)|lung(2) 6 TCTCCCAAATGGCCTGTCCAA 0.478000 113 19 0 0 0.010504 0 0 C10orf2 56652 broad.mit.edu 37 10 102750629 102750629 + Silent SNP C T T rs146690237 byFrequency TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr10:102750629C>T uc001ksf.2 + 3 2271 c.1596C>T c.(1594-1596)atC>atT p.I532I C10orf2_uc010qpv.1_Silent_p.I78I|C10orf2_uc001ksg.2_Silent_p.I532I|C10orf2_uc001ksi.2_Silent_p.I78I|C10orf2_uc021pxb.1_Non-coding_Transcript NM_021830 NP_068602 Q96RR1 PEO1_HUMAN Homo sapiens chromosome 10 open reading frame 2 (C10orf2), transcript variant 1, mRNA. 532 SF4 helicase. cell death|mitochondrial DNA replication|protein hexamerization|protein homooligomerization|transcription from mitochondrial promoter mitochondrial nucleoid 5'-3' DNA helicase activity|ATP binding|protease binding|single-stranded DNA binding breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|stomach(1) 24 Colorectal(252;0.122)|all_hematologic(284;0.152) Epithelial(162;7.18e-11)|all cancers(201;8.75e-09)|BRCA - Breast invasive adenocarcinoma(275;0.224) GGCGTAGGATCGCAGCTCAAG 0.468000 126 26 0 0 0.009535 0 0 GABBR2 9568 broad.mit.edu 37 9 101258747 101258747 + Missense_Mutation SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr9:101258747G>A uc004ays.3 - 3 1140 c.680C>T c.(679-681)tCa>tTa p.S227L NM_005458 NP_005449 O75899 GABR2_HUMAN Homo sapiens gamma-aminobutyric acid (GABA) B receptor, 2 (GABBR2), mRNA. 227 negative regulation of adenylate cyclase activity|synaptic transmission cell junction|integral to plasma membrane|postsynaptic membrane G-protein coupled receptor activity|GABA-B receptor activity NOTCH1_ENST00000277541/GABBR2(2) breast(4)|endometrium(4)|large_intestine(12)|lung(21)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1) 49 Acute lymphoblastic leukemia(62;0.0527) Baclofen(DB00181) CTCGGTGTCTGAAATCTCAAT 0.537000 62 9 0 0 0.006214 0 0 OR4D1 26689 broad.mit.edu 37 17 56232981 56232981 + Missense_Mutation SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr17:56232981C>T uc010wno.2 + 0 467 c.467C>T c.(466-468)tCc>tTc p.S156F MSX2P1_uc002ivn.3_5'Flank NM_012374 NP_036506 Q15615 OR4D1_HUMAN Homo sapiens olfactory receptor, family 4, subfamily D, member 1 (OR4D1), mRNA. 156 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(2)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1) 13 TTTGTCCACTCCATTGTCCAA 0.532000 48 15 0 0 0.003163 0 0 IL3RA 3563 broad.mit.edu 37 X 1467418 1467418 + Nonsense_Mutation SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chrX:1467418G>A uc004cps.3 + 3 627 c.278G>A c.(277-279)tGg>tAg p.W93* CRLF2_uc022brt.1_Intron|IL3RA_uc011mhd.2_Intron NM_002183 NP_002174 P26951 IL3RA_HUMAN Homo sapiens interleukin 3 receptor, alpha (low affinity) (IL3RA), mRNA. 93 integral to membrane|plasma membrane interleukin-3 receptor activity lung(1)|skin(2) 3 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) Sargramostim(DB00020) TTCTCCACGTGGATCCTCTTC 0.483000 212 55 0 0 0.014410 0 0 MXRA5 25878 broad.mit.edu 37 X 3228250 3228250 + Missense_Mutation SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chrX:3228250C>T uc004crg.4 - 6 8151 c.7994G>A c.(7993-7995)gGg>gAg p.G2665E NM_015419 NP_056234 Q9NR99 MXRA5_HUMAN Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA. 2665 Ig-like C2-type 11. 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) ACGTCCCTGCCCAGCCCCGGG 0.587000 37 27 0 0 0.008361 0 0 KCTD20 222658 broad.mit.edu 37 6 36452569 36452569 + Missense_Mutation SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr6:36452569G>A uc003ome.3 + 6 1326 c.935G>A c.(934-936)cGg>cAg p.R312Q KCTD20_uc011dtn.2_Missense_Mutation_p.R66Q|KCTD20_uc010jwk.3_Missense_Mutation_p.R146Q|KCTD20_uc011dto.2_Missense_Mutation_p.R66Q|KCTD20_uc011dtm.2_Missense_Mutation_p.R167Q NM_173562 NP_775833 Q7Z5Y7 KCD20_HUMAN Homo sapiens potassium channel tetramerisation domain containing 20 (KCTD20), mRNA. 312 voltage-gated potassium channel complex voltage-gated potassium channel activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|skin(1) 15 TTAAAGGAACGGGGCCTAAAA 0.348000 105 10 0 0 0.006214 0 0 CD163 9332 broad.mit.edu 37 12 7639179 7639179 + Missense_Mutation SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr12:7639179C>T uc001qsz.3 - 9 2502 c.2374G>A c.(2374-2376)Gaa>Aaa p.E792K CD163_uc001qta.3_Missense_Mutation_p.E792K|CD163_uc009zfw.2_Missense_Mutation_p.E825K NM_004244 NP_004235 Q86VB7 C163A_HUMAN Homo sapiens CD163 molecule (CD163), transcript variant 1, mRNA. 792 SRCR 7. 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 ATGCGGGATTCTTTTCCATTG 0.512000 146 30 0 0 0.003271 0 0 OR51S1 119692 broad.mit.edu 37 11 4869932 4869932 + Silent SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr11:4869932G>A uc010qyo.2 - 0 507 c.507C>T c.(505-507)ttC>ttT p.F169F NM_001004758 NP_001004758 Q8NGJ8 O51S1_HUMAN Homo sapiens olfactory receptor, family 51, subfamily S, member 1 (OR51S1), mRNA. 169 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.F169L(2)|p.P168S(1) 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) AGGCCAGCAGGAATGGCAGGG 0.552000 103 47 0 0 0.014410 0 0 TPX2 22974 broad.mit.edu 37 20 30371683 30371683 + Missense_Mutation SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr20:30371683C>T uc002wwp.1 + 11 2070 c.1372C>T c.(1372-1374)Cat>Tat p.H458Y TPX2_uc010gdv.1_Missense_Mutation_p.H494Y NM_012112 NP_036244 Q9ULW0 TPX2_HUMAN Homo sapiens TPX2, microtubule-associated, homolog (Xenopus laevis) (TPX2), mRNA. 458 activation of protein kinase activity|apoptosis|cell division|cell proliferation|mitosis|regulation of mitotic spindle organization cytoplasm|microtubule|nucleus|spindle pole ATP binding|GTP binding|protein kinase binding cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 28 Epithelial(4;0.000771)|Colorectal(19;0.00306)|all cancers(5;0.004)|COAD - Colon adenocarcinoma(19;0.0347)|OV - Ovarian serous cystadenocarcinoma(3;0.0656) CTTTGAATTTCATTCCAGACC 0.438000 53 7 0 0 0.004482 0 0 PDK1 5163 broad.mit.edu 37 2 173460628 173460628 + Silent SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr2:173460628C>T uc002uhs.3 + 10 1342 c.1242C>T c.(1240-1242)aaC>aaT p.N414N PDK1_uc010zdz.1_Silent_p.N259N|PDK1_uc010zea.1_Non-coding_Transcript|PDK1_uc002uhq.1_Silent_p.N434N|PDK1_uc010zeb.2_Silent_p.N434N NM_002610 NP_002601 Q15118 PDK1_HUMAN Homo sapiens pyruvate dehydrogenase kinase, isozyme 1 (PDK1), nuclear gene encoding mitochondrial protein, mRNA. 414 glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate|small GTPase mediated signal transduction mitochondrial matrix ATP binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1) 16 OV - Ovarian serous cystadenocarcinoma(117;0.12) ACAACACCAACCACGAGGCTG 0.468000 Autosomal Dominant Polycystic Kidney Disease 29 12 0 0 0.013537 0 0 PCLO 27445 broad.mit.edu 37 7 82583827 82583827 + Missense_Mutation SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr7:82583827C>T uc003uhx.2 - 4 6731 c.6442G>A c.(6442-6444)Gat>Aat p.D2148N PCLO_uc003uhv.2_Missense_Mutation_p.D2148N NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA. 2079 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 CTTGTATAATCGGTTACATAT 0.408000 53 5 0 0 0.001168 0 0 UBR4 23352 broad.mit.edu 37 1 19426927 19426927 + Silent SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr1:19426927G>A uc001bbi.3 - 88 13168 c.13164C>T c.(13162-13164)aaC>aaT p.N4388N UBR4_uc010ocv.2_5'Flank|UBR4_uc009vph.3_Silent_p.N22N|UBR4_uc010ocw.2_Silent_p.N79N|UBR4_uc001bbg.3_Silent_p.N99N|UBR4_uc001bbh.3_Silent_p.N97N NM_020765 NP_065816 Q5T4S7 UBR4_HUMAN Homo sapiens ubiquitin protein ligase E3 component n-recognin 4 (UBR4), mRNA. 4388 interspecies interaction between organisms cytoplasm|cytoskeleton|integral to membrane|nucleus calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6) 171 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256) UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816) GGCAAATCTTGTTCTTTATAT 0.527000 101 26 0 0 0.004656 0 0 RARRES3 5920 broad.mit.edu 37 11 63313664 63313664 + Missense_Mutation SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr11:63313664G>A uc001nxf.4 + 3 499 c.431G>A c.(430-432)gGa>gAa p.G144E NM_004585 NP_004576 Q9UL19 TIG3_HUMAN Homo sapiens retinoic acid receptor responder (tazarotene induced) 3 (RARRES3), mRNA. 144 lipid catabolic process|negative regulation of cell proliferation hydrolase activity kidney(1)|large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1) 6 ACGGCGCTTGGAATCCTGGTT 0.512000 186 82 0 0 0.014410 0 0 TBC1D9 23158 broad.mit.edu 37 4 141600151 141600151 + Nonsense_Mutation SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr4:141600151G>A uc010ioj.3 - 4 1068 c.796C>T c.(796-798)Cga>Tga p.R266* NM_015130 NP_055945 Q6ZT07 TBCD9_HUMAN Homo sapiens TBC1 domain family, member 9 (with GRAM domain) (TBC1D9), mRNA. 266 intracellular Rab GTPase activator activity|calcium ion binding endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 31 all_hematologic(180;0.162) Medulloblastoma(177;0.00498) GGCAGGGATCGATCTTGTTCA 0.423000 149 34 0 0 0.013726 0 0 CCDC37 348807 broad.mit.edu 37 3 126132978 126132978 + Missense_Mutation SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr3:126132978G>A uc010hsg.1 + 2 240 c.181G>A c.(181-183)Gat>Aat p.D61N CCDC37_uc003eiu.1_Missense_Mutation_p.D61N NM_182628 NP_872434 Q494V2 CCD37_HUMAN Homo sapiens coiled-coil domain containing 37 (CCDC37), mRNA. 61 NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|skin(3) 23 GBM - Glioblastoma multiforme(114;0.166) TGGGGATGTGGATTTCTTCTT 0.567000 221 60 0 0 0.014410 0 0 MCM3AP 8888 broad.mit.edu 37 21 47666294 47666294 + Missense_Mutation SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr21:47666294G>A uc002zir.1 - 21 4610 c.4574C>T c.(4573-4575)tCa>tTa p.S1525L MCM3AP-AS1_uc002zim.2_Intron|MCM3AP-AS1_uc002zin.2_Intron|MCM3AP_uc002zio.1_Missense_Mutation_p.S20L|MCM3AP_uc002zip.1_Missense_Mutation_p.S266L|MCM3AP_uc002ziq.1_Missense_Mutation_p.S452L|MCM3AP-AS1_uc002zis.1_Intron NM_003906 NP_003897 O60318 MCM3A_HUMAN Homo sapiens minichromosome maintenance complex component 3 associated protein (MCM3AP), mRNA. 1525 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) CAGCTTAGCTGAAACCAAGTC 0.408000 28 7 0 0 0.008291 0 0 FRG2B 441581 broad.mit.edu 37 10 135438925 135438925 + Missense_Mutation SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr10:135438925C>T uc010qvg.2 - 3 568 c.515G>A c.(514-516)cGa>cAa p.R172Q NM_001080998 NP_001074467 Q96QU4 FRG2B_HUMAN Homo sapiens FSHD region gene 2 family, member B (FRG2B), mRNA. 172 nucleus endometrium(2)|kidney(2)|lung(14)|ovary(1)|prostate(1) 20 all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175) OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06) CAAGCTTTTTCGAATTGACGG 0.562000 153 29 0 0 0.012213 0 0 MAP1A 4130 broad.mit.edu 37 15 43817097 43817097 + Silent SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr15:43817097C>T uc001zrt.3 + 3 3893 c.3426C>T c.(3424-3426)gaC>gaT p.D1142D NM_002373 NP_002364 P78559 MAP1A_HUMAN Homo sapiens microtubule-associated protein 1A (MAP1A), mRNA. 1142 cytoplasm|microtubule|microtubule associated complex protein binding|structural molecule activity breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 66 all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;3.05e-06) Estramustine(DB01196) GATATCCTGACCGAAGCCTCT 0.572000 57 7 0 0 0.001984 0 0 ARHGAP28 79822 broad.mit.edu 37 18 6882258 6882258 + Silent SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr18:6882258C>T uc002knc.3 + 10 4468 c.1257C>T c.(1255-1257)ttC>ttT p.F419F ARHGAP28_uc002kne.3_Silent_p.F312F|ARHGAP28_uc010wzi.2_Silent_p.F294F|ARHGAP28_uc002knf.3_Silent_p.F303F NM_001010000 NP_001010000 B4DXL2 B4DXL2_HUMAN Homo sapiens Rho GTPase activating protein 28 (ARHGAP28), mRNA. 294 signal transduction intracellular breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2) 37 Colorectal(10;0.168) CCTCTCTCTTCCCTGTGGAAT 0.388000 40 10 0 0 0.010729 0 0 C8orf80 389643 broad.mit.edu 37 8 27927076 27927077 + Missense_Mutation DNP CC TT TT TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr8:27927076_27927077CC>TT uc003xgm.4 - 3 384_385 c.241_242GG>AA c.(241-243)gga>AAa p.G81K NM_001010906 NP_001010906 Q68CJ6 SLIP_HUMAN Homo sapiens chromosome 8 open reading frame 80 (C8orf80), mRNA. 81 nucleus GTP binding|GTPase activity p.G81R(6) breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|skin(1)|stomach(1) 35 Ovarian(32;0.0218) UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|KIRC - Kidney renal clear cell carcinoma(542;0.126)|Kidney(114;0.15)|Colorectal(74;0.181) ATACTTGACTCCATTAGGGATG 0.416000 79 19 0 0 0.004672 0 0 DLGAP3 58512 broad.mit.edu 37 1 35334316 35334316 + Missense_Mutation SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr1:35334316G>A uc001byc.3 - 6 2375 c.2375C>T c.(2374-2376)cCa>cTa p.P792L NM_001080418 NP_001073887 O95886 DLGP3_HUMAN Homo sapiens discs, large (Drosophila) homolog-associated protein 3 (DLGAP3), mRNA. 792 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) GCCGTCGCGTGGGCAGGGGGA 0.697000 26 12 0 0 0.013537 0 0 C1orf168 199920 broad.mit.edu 37 1 57257937 57257937 + Silent SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr1:57257937C>T uc001cym.4 - 1 955 c.549G>A c.(547-549)agG>agA p.R183R C1orf168_uc009vzu.1_Non-coding_Transcript|C1orf168_uc009vzv.1_Silent_p.R183R NM_001004303 NP_001004303 Q5VWT5 CA168_HUMAN Homo sapiens chromosome 1 open reading frame 168 (C1orf168), mRNA. 183 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 CCAGCTTTTTCCTGGGTTCCT 0.478000 90 13 0 0 0.013537 0 0 TCRB 0 broad.mit.edu 37 7 142099699 142099699 + Missense_Mutation SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr7:142099699C>T uc003vyz.1 - 1 103 c.103G>A c.(103-105)Gga>Aga p.G35R TRBV2_uc011kro.1_Intron|TRBV5-1_uc011krr.1_Intron|TCRB_uc022and.1_5'Flank|TCRB_uc022ane.1_Missense_Mutation_p.G35R SubName: Full=Uncharacterized protein; ACATCCTGTCCTCTCTTTGCG 0.468000 50 9 0 0 0.006214 0 0 POLD1 5424 broad.mit.edu 37 19 50905548 50905548 + Missense_Mutation SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr19:50905548C>T uc010eny.3 + 4 677 c.676C>T c.(676-678)Ctc>Ttc p.L226F POLD1_uc002psb.4_Missense_Mutation_p.L226F|POLD1_uc002psc.4_Missense_Mutation_p.L226F|POLD1_uc010enx.3_Non-coding_Transcript NM_002691 NP_002682 P28340 DPOD1_HUMAN Homo sapiens polymerase (DNA directed), delta 1, catalytic subunit 125kDa (POLD1), mRNA. 226 DNA replication proofreading|DNA replication, removal of RNA primer|DNA synthesis involved in DNA repair|S phase of mitotic cell cycle|base-excision repair, gap-filling|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|response to UV|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair delta DNA polymerase complex|nucleoplasm|nucleotide-excision repair complex 3'-5'-exodeoxyribonuclease activity|DNA binding|DNA-directed DNA polymerase activity|chromatin binding|metal ion binding|nucleotide binding|protein binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 all_neural(266;0.0571) OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195) GGCCCGCCGTCTCCTGGAACA 0.692000 DNA polymerases (catalytic subunits) 43 12 0 0 0.013537 0 0 SEC23B 10483 broad.mit.edu 37 20 18541303 18541303 + Silent SNP A G G TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr20:18541303A>G uc002wra.2 + 19 2684 c.2223A>G c.(2221-2223)ggA>ggG p.G741G SEC23B_uc010zsb.2_Silent_p.G723G|SEC23B_uc002wrb.2_Silent_p.G741G|SEC23B_uc002wqz.2_Silent_p.G741G|SEC23B_uc002wrc.2_Silent_p.G741G NM_032985 NP_116781 Q15437 SC23B_HUMAN Homo sapiens Sec23 homolog B (S. cerevisiae) (SEC23B), transcript variant 2, mRNA. 741 ER to Golgi vesicle-mediated transport|intracellular protein transport COPII vesicle coat|ER-Golgi intermediate compartment membrane|Golgi membrane|endoplasmic reticulum membrane zinc ion binding breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1) 32 AGGAAACTGGAGCACCCATCC 0.438000 99 25 0 0 0.007291 0 0 MYO16 23026 broad.mit.edu 37 13 109859073 109859073 + Silent SNP T C C TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr13:109859073T>C uc010agk.2 + 34 6154 c.5532T>C c.(5530-5532)gcT>gcC p.A1844A MYO16_uc001vqt.1_Silent_p.A1822A NM_001198950 NP_001185879 Q9Y6X6 MYO16_HUMAN Homo sapiens myosin XVI (MYO16), transcript variant 1, mRNA. 1822 cerebellum development|negative regulation of S phase of mitotic cell cycle|negative regulation of cell proliferation myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane ATP binding|actin filament binding|motor activity p.G1843W(1) NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 121 all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104) BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201) TGCACCACGCTGAGCCCAGGG 0.602000 43 12 0 0 0.010729 0 0 RBM11 54033 broad.mit.edu 37 21 15588566 15588566 + Missense_Mutation SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr21:15588566G>A uc002yjo.4 + 0 101 c.59G>A c.(58-60)cGa>cAa p.R20Q RBM11_uc002yjn.4_5'UTR|RBM11_uc002yjp.4_5'UTR NM_144770 NP_658983 P57052 RBM11_HUMAN Homo sapiens RNA binding motif protein 11 (RBM11), mRNA. 20 RRM. RNA binding|nucleotide binding endometrium(3)|kidney(3)|lung(7)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 16 Epithelial(23;0.000314)|COAD - Colon adenocarcinoma(22;0.00242)|Colorectal(24;0.0129)|Lung(58;0.141) TTAGAGGCCCGAGTTCGGGAA 0.612000 19 6 0 0 0.003080 0 0 CSMD1 64478 broad.mit.edu 37 8 3046514 3046514 + Silent SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr8:3046514G>A uc022aqr.1 - 34 5808 c.5418C>T c.(5416-5418)ttC>ttT p.F1806F CSMD1_uc011kwj.2_Silent_p.F1199F|CSMD1_uc003wqe.3_Silent_p.F963F|CSMD1_uc010lrg.3_5'Flank NM_033225 NP_150094 Q96PZ7 CSMD1_HUMAN Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA. 1807 CUB 11. integral to membrane p.F1535F(1)|p.F1806F(1) 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) TTCGTTGAGTGAAATTGCCAC 0.458000 19 6 0 0 0.003080 0 0 ASTN1 460 broad.mit.edu 37 1 176838078 176838078 + Silent SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr1:176838078C>T uc001glc.3 - 21 3761 c.3549G>A c.(3547-3549)ctG>ctA p.L1183L ASTN1_uc001glb.1_Silent_p.L1183L|ASTN1_uc001gld.1_Silent_p.L1183L NM_004319 NP_004310 O14525 ASTN1_HUMAN Homo sapiens astrotactin 1 (ASTN1), transcript variant 1, mRNA. 1191 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 TGGGGGAACCCAGATCCAGGA 0.512000 67 19 0 0 0.010504 0 0 DMBX1 127343 broad.mit.edu 37 1 46978105 46978105 + Missense_Mutation SNP A C C TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr1:46978105A>C uc001cpx.3 + 3 1103 c.1088A>C c.(1087-1089)aAc>aCc p.N363T DMBX1_uc001cpw.3_Missense_Mutation_p.N358T NM_147192 NP_671725 Q8NFW5 DMBX1_HUMAN Homo sapiens diencephalon/mesencephalon homeobox 1 (DMBX1), transcript variant 2, mRNA. 363 brain development|developmental growth|negative regulation of transcription, DNA-dependent nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 Acute lymphoblastic leukemia(166;0.155) AGCATCGAGAACCTGCGGCTC 0.642000 69 13 0 0 0.001855 0 0 F13A1 2162 broad.mit.edu 37 6 6225075 6225075 + Missense_Mutation SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr6:6225075C>T uc003mwv.3 - 6 940 c.817G>A c.(817-819)Gaa>Aaa p.E273K F13A1_uc011dib.2_Missense_Mutation_p.E210K NM_000129 NP_000120 P00488 F13A_HUMAN Homo sapiens coagulation factor XIII, A1 polypeptide (F13A1), mRNA. 273 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) AGGACACCTTCGTCATCTTTG 0.498000 56 12 0 0 0.013537 0 0 EPHA7 2045 broad.mit.edu 37 6 93956528 93956528 + Missense_Mutation SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr6:93956528G>A uc003poe.3 - 14 2949 c.2708C>T c.(2707-2709)cCc>cTc p.P903L EPHA7_uc003pof.3_Missense_Mutation_p.P898L|EPHA7_uc011eac.2_Missense_Mutation_p.P899L NM_004440 NP_004431 Q15375 EPHA7_HUMAN Homo sapiens EPH receptor A7 (EPHA7), mRNA. 903 P -> S (in a metastatic melanoma sample; somatic mutation). integral to plasma membrane ATP binding|ephrin receptor activity p.P903S(1) NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1) 112 all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142) BRCA - Breast invasive adenocarcinoma(108;0.0847) AGTTCCCAGGGGAGTTTTCAG 0.398000 61 17 0 0 0.008871 0 0 DICER1 23405 broad.mit.edu 37 14 95569702 95569702 + Missense_Mutation SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr14:95569702G>A uc001ydw.2 - 21 4243 c.4031C>T c.(4030-4032)tCa>tTa p.S1344L DICER1_uc010avh.1_Missense_Mutation_p.S242L|DICER1_uc021sbc.1_Missense_Mutation_p.S1344L|DICER1_uc001ydv.2_Missense_Mutation_p.S1334L|DICER1_uc001ydx.2_Missense_Mutation_p.S1344L|DICER1_uc001ydy.1_Missense_Mutation_p.S196L|DICER1_uc021sbd.1_Missense_Mutation_p.S626L NM_030621 NP_803187 Q9UPY3 DICER_HUMAN Homo sapiens dicer 1, ribonuclease type III (DICER1), transcript variant 2, mRNA. 1344 RNase III 1. negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of Schwann cell differentiation|positive regulation of myelination|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference RNA-induced silencing complex|cytosol ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity p.S1344L(2) NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3) 75 all_cancers(154;0.0621)|all_epithelial(191;0.223) Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215) TCTCATATATGAAAGGCGGCC 0.413000 """Mis F, N""" """sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma""" pleuropulmonary blastoma Familial Multinodular Goiter ;DICER 1 syndrome 38 9 0 0 0.008291 0 0 MYH7 4625 broad.mit.edu 37 14 23888698 23888698 + Missense_Mutation SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr14:23888698C>T uc001wjx.3 - 27 3953 c.3847G>A c.(3847-3849)Gag>Aag p.E1283K MIR208B_uc021rqy.1_5'Flank NM_000257 NP_000248 P12883 MYH7_HUMAN Homo sapiens myosin, heavy chain 7, cardiac muscle, beta (MYH7), mRNA. 1283 adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 137 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00725) TCACCATTCTCGGTTTGCAAC 0.607000 86 35 0 0 0.004878 0 0 CASZ1 54897 broad.mit.edu 37 1 10708004 10708004 + Silent SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr1:10708004G>A uc001aro.3 - 15 3671 c.3351C>T c.(3349-3351)ctC>ctT p.L1117L CASZ1_uc001arp.1_Silent_p.L1117L NM_001079843 NP_001073312 Q86V15 CASZ1_HUMAN Homo sapiens castor zinc finger 1 (CASZ1), transcript variant 1, mRNA. 1117 Pro-rich. 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) GCTTCCAGGCGAGCAGGGTGG 0.687000 50 12 0 0 0.010729 0 0 GTF2IRD2 84163 broad.mit.edu 37 7 74211432 74211432 + Missense_Mutation SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr7:74211432G>A uc003ubd.1 - 15 2603 c.2419C>T c.(2419-2421)Ccc>Tcc p.P807S GTF2IRD2_uc010lbt.1_Missense_Mutation_p.P354S NM_173537 NP_775808 Q86UP8 GTD2A_HUMAN Homo sapiens GTF2I repeat domain containing 2 (GTF2IRD2), mRNA. 807 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(2)|skin(1) 11 ttcagggtgggaaagtgggcc 0.488000 132 37 0 0 0.007835 0 0 ABCA13 154664 broad.mit.edu 37 7 48550793 48550793 + Silent SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr7:48550793C>T uc003toq.2 + 50 13662 c.13638C>T c.(13636-13638)ttC>ttT p.F4546F ABCA13_uc010kys.1_Silent_p.F1621F|ABCA13_uc010kyt.1_Non-coding_Transcript|ABCA13_uc010kyu.1_Silent_p.F276F NM_152701 NP_689914 Q86UQ4 ABCAD_HUMAN Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 13 (ABCA13), mRNA. 4546 transport integral to membrane ATP binding|ATPase activity p.F4546L(1)|p.F4491L(1) breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 270 TGTCACTTTTCGGGTATGTGA 0.483000 45 9 0 0 0.004482 0 0 ERC2 26059 broad.mit.edu 37 3 55922419 55922419 + Missense_Mutation SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr3:55922419C>T uc021wzo.1 - 12 2702 c.2562G>A c.(2560-2562)atG>atA p.M854I ERC2_uc003dhq.1_Non-coding_Transcript|ERC2_uc003dhr.1_Missense_Mutation_p.M850I|ERC2_uc003dht.1_Missense_Mutation_p.M333I NM_015576 NP_056391 O15083 ERC2_HUMAN Homo sapiens ELKS/RAB6-interacting/CAST family member 2 (ERC2), mRNA. 854 cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome protein binding breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1) 31 KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219) GTACTCACTTCATCTCCAGGA 0.532000 108 23 0 0 0.002780 0 0 ITGB8 3696 broad.mit.edu 37 7 20418903 20418903 + Silent SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr7:20418903G>A uc003suu.3 + 3 1323 c.618G>A c.(616-618)agG>agA p.R206R ITGB8_uc011jyh.2_Silent_p.R71R|ITGB8_uc003sut.3_Silent_p.R206R NM_002214 NP_002205 P26012 ITB8_HUMAN Homo sapiens integrin, beta 8 (ITGB8), mRNA. 206 VWFA. cell-matrix adhesion|integrin-mediated signaling pathway|placenta blood vessel development integrin complex protein binding|receptor activity NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(4)|stomach(2)|urinary_tract(1) 37 ACCCCGAAAGGATTCATAATC 0.338000 23 7 0 0 0.006214 0 0 ANK3 288 broad.mit.edu 37 10 61959955 61959955 + Missense_Mutation SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr10:61959955G>A uc001jky.3 - 12 1761 c.1423C>T c.(1423-1425)Cgc>Tgc p.R475C ANK3_uc010qih.2_Missense_Mutation_p.R458C|ANK3_uc001jkz.4_Missense_Mutation_p.R469C|ANK3_uc001jlb.1_Missense_Mutation_p.R4C|ANK3_uc001jlc.1_Missense_Mutation_p.R136C NM_020987 NP_066267 Q12955 ANK3_HUMAN Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA. 475 establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding p.R475C(2) NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 196 TGGCCGGAGCGAGCTGCCATG 0.453000 34 5 0 0 0.001168 0 0 POLR3D 661 broad.mit.edu 37 8 22107734 22107734 + Silent SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr8:22107734C>T uc003xbl.3 + 7 1151 c.1068C>T c.(1066-1068)ttC>ttT p.F356F POLR3D_uc003xbm.3_Silent_p.F356F|POLR3D_uc011kze.2_Non-coding_Transcript NM_001722 NP_001713 P05423 RPC4_HUMAN Homo sapiens polymerase (RNA) III (DNA directed) polypeptide D, 44kDa (POLR3D), mRNA. 356 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 DNA-directed RNA polymerase III complex DNA binding|DNA-directed RNA polymerase activity central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|prostate(1)|stomach(1) 13 Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061) CCTGCTCCTTCCTGCAGGTAA 0.557000 42 8 0 0 0.004482 0 0 LRRC4C 57689 broad.mit.edu 37 11 40136434 40136434 + Missense_Mutation SNP C T T rs74858686 by1000genomes TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr11:40136434C>T uc021qgf.1 - 0 1409 c.1409G>A c.(1408-1410)cGg>cAg p.R470Q LRRC4C_uc001mxc.1_Missense_Mutation_p.R466Q|LRRC4C_uc001mxd.1_Missense_Mutation_p.R466Q|LRRC4C_uc001mxa.1_Missense_Mutation_p.R470Q|LRRC4C_uc001mxb.1_Missense_Mutation_p.R466Q NM_020929 NP_065980 Q9HCJ2 LRC4C_HUMAN Homo sapiens leucine rich repeat containing 4C (LRRC4C), mRNA. 470 regulation of axonogenesis integral to membrane protein binding p.R470Q(2) NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 86 all_lung(304;0.0575)|Lung NSC(402;0.138) ATCTGTGGTCCGTGCCTCATC 0.517000 67 13 0 0 0.001855 0 0 DPCR1 135656 broad.mit.edu 37 6 30920880 30920880 + Missense_Mutation SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr6:30920880C>T uc003nsg.2 + 2 4168 c.4168C>T c.(4168-4170)Cct>Tct p.P1390S NM_080870 NP_543146 Q3MIW9 DPCR1_HUMAN Homo sapiens diffuse panbronchiolitis critical region 1 (DPCR1), mRNA. 514 integral to membrane endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|pancreas(1) 10 GGGCCAGATCCCTTCCCCACG 0.567000 30 7 0 0 0.003080 0 0 A2M 2 broad.mit.edu 37 12 9264767 9264767 + Silent SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr12:9264767G>A uc001qvk.1 - 3 584 c.471C>T c.(469-471)ccC>ccT p.P157P A2M_uc009zgk.1_Silent_p.P7P NM_000014 NP_000005 P01023 A2MG_HUMAN Homo sapiens alpha-2-macroglobulin (A2M), mRNA. 157 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) ACTCATTCAGGGGGTGAAAGT 0.423000 50 6 0 0 0.003080 0 0 RIBC2 26150 broad.mit.edu 37 22 45813720 45813720 + Silent SNP T C C TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr22:45813720T>C uc011aqs.2 + 3 641 c.432T>C c.(430-432)gaT>gaC p.D144D NM_015653 NP_056468 Q9H4K1 RIBC2_HUMAN Homo sapiens RIB43A domain with coiled-coils 2 (RIBC2), mRNA. 77 NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|skin(2)|urinary_tract(1) 10 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.0178) TGGGAGAGGATTTAAACTTCC 0.448000 30 5 0 0 0.001168 0 0 ADAM18 8749 broad.mit.edu 37 8 39502882 39502882 + Missense_Mutation SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr8:39502882G>A uc003xni.3 + 10 990 c.935G>A c.(934-936)gGa>gAa p.G312E ADAM18_uc010lww.3_Non-coding_Transcript|ADAM18_uc010lwx.3_Missense_Mutation_p.G288E NM_014237 NP_055052 Q9Y3Q7 ADA18_HUMAN Homo sapiens ADAM metallopeptidase domain 18 (ADAM18), transcript variant 1, mRNA. 312 Peptidase M12B. 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) GGTTTGGAGGGATTTTCGGTT 0.313000 50 10 0 0 0.008291 0 0 TCRBV15S1 0 broad.mit.edu 37 7 142364705 142364705 + Missense_Mutation SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr7:142364705G>A uc003vzx.3 + 1 374 c.340G>A c.(340-342)Gat>Aat p.D114N TRBV5-1_uc011krr.1_Intron|TCRBV2S1_uc003vzp.2_Intron|TCRBV3S1_uc011ksh.2_Intron|TCRBV3S1_uc003vzw.2_Intron|TCRBV3S1_uc011ksi.2_Intron|TCRBV3S1_uc010loj.2_Non-coding_Transcript|TRBV23-1_uc022ans.1_Intron SubName: Full=V_segment translation product; Flags: Fragment; TGCCACCAGTGATTTGCACAG 0.512000 52 12 0 0 0.013537 0 0 SH3RF2 153769 broad.mit.edu 37 5 145439658 145439658 + Silent SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr5:145439658C>T uc003lnt.3 + 8 2023 c.1785C>T c.(1783-1785)tcC>tcT p.S595S SH3RF2_uc011dbl.1_Silent_p.S595S|SH3RF2_uc011dbm.1_Silent_p.S80S|SH3RF2_uc003lnu.3_Silent_p.S86S|SH3RF2_uc011dbn.1_Silent_p.S86S|SH3RF2_uc011dbo.2_Silent_p.S52S NM_152550 NP_689763 Q8TEC5 SH3R2_HUMAN Homo sapiens SH3 domain containing ring finger 2 (SH3RF2), mRNA. 595 ligase activity|protein phosphatase 1 binding|zinc ion binding p.S595F(1) breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1) 22 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) GGATCCACTCCGCGGCCAGCT 0.632000 43 11 0 0 0.013537 0 0 SLC22A25 387601 broad.mit.edu 37 11 62985178 62985178 + Missense_Mutation SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr11:62985178G>A uc001nwr.1 - 2 536 c.536C>T c.(535-537)tCt>tTt p.S179F SLC22A10_uc010rmo.1_Intron|SLC22A25_uc009yoq.1_Non-coding_Transcript|SLC22A25_uc001nws.1_Intron|SLC22A25_uc001nwt.1_Missense_Mutation_p.S179F NM_199352 NP_955384 Q6T423 S22AP_HUMAN Homo sapiens solute carrier family 22, member 25 (SLC22A25), mRNA. 179 transmembrane transport integral to membrane NS(2)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(7)|ovary(3)|skin(7) 34 CTGGAGGTAAGACCATCTGAG 0.507000 54 9 0 0 0.013537 0 0 ADA 100 broad.mit.edu 37 20 43251572 43251572 + Splice_Site SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr20:43251572C>T uc002xmj.3 - 8 807 c.679_splice c.e8-1 p.A227_splice NM_000022 NP_000013 P00813 ADA_HUMAN Homo sapiens adenosine deaminase (ADA), mRNA. 227 T cell activation|adenosine catabolic process|cell adhesion|hypoxanthine salvage|inosine biosynthetic process|negative regulation of adenosine receptor signaling pathway|purine nucleotide salvage|purine ribonucleoside monophosphate biosynthetic process|regulation of cell-cell adhesion mediated by integrin|response to hypoxia cell junction|cytoplasmic membrane-bounded vesicle lumen|cytosol|external side of plasma membrane|lysosome adenosine deaminase activity|protein binding|zinc ion binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|pancreas(2)|prostate(3)|skin(2)|urinary_tract(1) 18 all_lung(126;1.24e-07)|Lung NSC(126;1.94e-07)|Myeloproliferative disorder(115;0.0122) COAD - Colon adenocarcinoma(18;0.00189) Adenosine(DB00640)|Cladribine(DB00242)|Dipyridamole(DB00975)|Erythromycin(DB00199)|Fludarabine(DB01073)|Idoxuridine(DB00249)|Nelarabine(DB01280)|Pentostatin(DB00552)|Theophylline(DB00277)|Vidarabine(DB00194) TGTCCACAGCCTGTAGAGAAG 0.582000 Adenosine Deaminase Deficiency 100 30 0 0 0.007291 0 0 NAALADL1 10004 broad.mit.edu 37 11 64822107 64822107 + Missense_Mutation SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr11:64822107G>A uc001ocn.3 - 4 723 c.707C>T c.(706-708)tCc>tTc p.S236F NAALADL1_uc010rnw.2_5'UTR NM_005468 NP_005459 Q9UQQ1 NALDL_HUMAN Homo sapiens N-acetylated alpha-linked acidic dipeptidase-like 1 (NAALADL1), mRNA. 236 proteolysis apical plasma membrane|integral to membrane carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2) 29 CAGGTACCAGGAGTTGGGAAA 0.612000 OREG0032001 type=REGULATORY REGION|TFbs=RELA|Dataset=RELA (p65) ChIP-PET Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with paired-end diTag sequencing (ChIP-PET) 30 10 0 0 0.008291 0 0 BZRAP1 9256 broad.mit.edu 37 17 56386569 56386569 + Missense_Mutation SNP C T T rs139202824 byFrequency TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr17:56386569C>T uc002ivx.4 - 21 4935 c.4064G>A c.(4063-4065)cGa>cAa p.R1355Q BZRAP1_uc002ivw.3_5'Flank|BZRAP1_uc010dcs.3_Missense_Mutation_p.R1295Q|BZRAP1_uc010wnt.2_Missense_Mutation_p.R1355Q NM_004758 NP_004749 O95153 RIMB1_HUMAN Homo sapiens benzodiazapine receptor (peripheral) associated protein 1 (BZRAP1), transcript variant 1, mRNA. 1355 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) GCCAGGGTCTCGGGAAGAACA 0.612000 42 7 0 0 0.001984 0 0 TRAF7 84231 broad.mit.edu 37 16 2223538 2223538 + Missense_Mutation SNP G T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr16:2223538G>T uc002cow.3 + 10 1168 c.1069G>T c.(1069-1071)Gac>Tac p.D357Y NM_032271 NP_115647 Q6Q0C0 TRAF7_HUMAN Homo sapiens TNF receptor-associated factor 7 (TRAF7), mRNA. 357 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 p.R356L(1) breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(1) 23 GTTCCGGCGGGACGCATCCAT 0.677000 37 10 6.40141e-05 6.95357e-05 0.010729 1 0 ST18 9705 broad.mit.edu 37 8 53084844 53084844 + Missense_Mutation SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr8:53084844C>T uc003xqz.2 - 4 733 c.577G>A c.(577-579)Gaa>Aaa p.E193K ST18_uc011ldq.1_5'UTR|ST18_uc011ldr.1_Missense_Mutation_p.E158K|ST18_uc011lds.1_Missense_Mutation_p.E98K|ST18_uc003xra.2_Missense_Mutation_p.E193K|ST18_uc003xrb.2_Missense_Mutation_p.E193K NM_014682 NP_055497 O60284 ST18_HUMAN Homo sapiens suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein) (ST18), mRNA. 193 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) GAGTTACTTTCATTGTCATCA 0.438000 51 7 0 0 0.001984 0 0 PRKG1 5592 broad.mit.edu 37 10 54040660 54040660 + Silent SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr10:54040660C>T uc001jjm.3 + 12 1698 c.1470C>T c.(1468-1470)ctC>ctT p.L490L PRKG1_uc001jjo.3_Silent_p.L505L|PRKG1_uc009xow.2_Silent_p.L208L|LOC100506939_uc021pqu.1_Intron NM_001098512 NP_001091982 Q13976 KGP1_HUMAN Homo sapiens protein kinase, cGMP-dependent, type I (PRKG1), transcript variant 1, mRNA. 490 Protein kinase. actin cytoskeleton organization|platelet activation|signal transduction cytosol ATP binding|cGMP binding|cGMP-dependent protein kinase activity autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 53 all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173) all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606) CAGAAAATCTCATCCTAGATC 0.388000 57 10 0 0 0.006214 0 0 PEG3 5178 broad.mit.edu 37 19 57326320 57326320 + Missense_Mutation SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr19:57326320C>T uc002qnu.2 - 6 3841 c.3490G>A c.(3490-3492)Gaa>Aaa p.E1164K PEG3_uc010ygr.1_Intron|PEG3_uc010ygq.1_Intron|PEG3_uc002qnr.2_Intron|PEG3_uc010etp.2_Intron|PEG3_uc010ygs.1_Intron|PEG3_uc002qnq.2_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.E1135K|PEG3_uc002qnv.2_Missense_Mutation_p.E1164K|PEG3_uc002qnw.2_Missense_Mutation_p.E1040K|PEG3_uc002qnx.2_Missense_Mutation_p.E1038K|PEG3_uc010etr.2_Missense_Mutation_p.E1164K NM_001146186 NP_001139657 Q9GZU2 PEG3_HUMAN Homo sapiens paternally expressed 3 (PEG3), transcript variant 4, mRNA. 1164 apoptosis|viral reproduction cytoplasm|nucleus nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6) 170 Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0269) TTTGGACATTCATACAGCTGC 0.448000 99 24 0 0 0.002780 0 0 TUBA3C 7278 broad.mit.edu 37 13 19748188 19748188 + Missense_Mutation SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr13:19748188G>A uc009zzj.3 - 4 1273 c.1168C>T c.(1168-1170)Cgc>Tgc p.R390C NM_006001 NP_525125 Q13748 TBA3C_HUMAN Homo sapiens tubulin, alpha 3c (TUBA3C), mRNA. 390 'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|protein binding|structural molecule activity NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1) 72 all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108) TGGTCCAGGCGAGCCCAGGCC 0.647000 86 18 0 0 0.006122 0 0 CEACAM18 729767 broad.mit.edu 37 19 51986565 51986565 + Missense_Mutation SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr19:51986565C>T uc002pwv.1 + 4 1151 c.1151C>T c.(1150-1152)cCt>cTt p.P384L NM_001080405 NP_001073874 A8MTB9 CEA18_HUMAN Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 18 (CEACAM18), mRNA. 384 integral to membrane breast(1)|endometrium(4)|large_intestine(3)|lung(8)|skin(1) 17 all_neural(266;0.0529) GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.00979) AGCAGCTCCCCTCCAGGCTCA 0.602000 27 5 0 0 0.000602 0 0 WNK2 65268 broad.mit.edu 37 9 96030989 96030990 + Missense_Mutation DNP CC AA AA TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr9:96030989_96030990CC>AA uc004ati.1 + 17 3994_3995 c.3994_3995CC>AA c.(3994-3996)cca>AAa p.P1332K WNK2_uc011lud.1_Missense_Mutation_p.P1332K|WNK2_uc004atj.3_Missense_Mutation_p.P1332K|WNK2_uc004atk.3_Missense_Mutation_p.P969K NM_006648 NP_006639 Q9Y3S1 WNK2_HUMAN Homo sapiens WNK lysine deficient protein kinase 2 (WNK2), mRNA. 1332 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 ATCTTCGCCCCCACTTCCTCTA 0.619000 14 6 0 0 0.004672 0 0 DBC1 1620 broad.mit.edu 37 9 122075489 122075489 + Missense_Mutation SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr9:122075489G>A uc004bkc.2 - 1 601 c.145C>T c.(145-147)Cac>Tac p.H49Y DBC1_uc004bkd.2_Missense_Mutation_p.H49Y NM_014618 NP_055433 O60477 DBC1_HUMAN Homo sapiens deleted in bladder cancer 1 (DBC1), mRNA. 49 cell cycle arrest|cell death cytoplasm protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 83 CTGGAGTGGTGGAAAGGCCCC 0.502000 51 20 0 0 0.007413 0 0 GLTSCR1 29998 broad.mit.edu 37 19 48183957 48183957 + Silent SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr19:48183957C>T uc002phh.4 + 5 1724 c.1530C>T c.(1528-1530)atC>atT p.I510I GLTSCR1_uc002phi.4_Silent_p.I268I NM_015711 NP_056526 Q9NZM4 GSCR1_HUMAN Homo sapiens glioma tumor suppressor candidate region gene 1 (GLTSCR1), mRNA. 510 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) GACAGCTCATCGCGAACCCCA 0.726000 57 19 0 0 0.007413 0 0 ANKRD20A9P 284232 broad.mit.edu 37 13 19412860 19412860 + RNA SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr13:19412860C>T uc010tcj.1 - 0 c.33250G>A Homo sapiens ankyrin repeat domain 20 family, member A9, pseudogene (ANKRD20A9P), non-coding RNA. ATGCATATTTCCTGTCTGAGT 0.284000 80 15 0 0 0.003163 0 0 DMTF1 9988 broad.mit.edu 37 7 86794346 86794346 + Missense_Mutation SNP T C C TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr7:86794346T>C uc003uih.3 + 2 415 c.89T>C c.(88-90)aTt>aCt p.I30T DMTF1_uc003uii.3_5'UTR|DMTF1_uc003uij.3_5'UTR|DMTF1_uc011khb.2_Intron|DMTF1_uc003uik.3_Non-coding_Transcript|DMTF1_uc003uil.3_Missense_Mutation_p.I30T|DMTF1_uc003uim.1_Missense_Mutation_p.I30T|DMTF1_uc003uin.3_5'UTR NM_001142327 NP_001135798 Q9Y222 DMTF1_HUMAN Homo sapiens cyclin D binding myb-like transcription factor 1 (DMTF1), transcript variant 2, mRNA. 30 Interaction with CCND2 (By similarity). cell cycle cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|ovary(1) 16 Esophageal squamous(14;0.0058) GGGAATCTCATTCTTCACTGC 0.413000 28 9 0 0 0.004482 0 0 OR9A4 130075 broad.mit.edu 37 7 141619575 141619575 + Silent SNP C T T rs142578561 by1000genomes TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr7:141619575C>T uc003vwu.1 + 0 900 c.900C>T c.(898-900)gcC>gcT p.A300A NM_001001656 NP_001001656 Q8NGU2 OR9A4_HUMAN Homo sapiens olfactory receptor, family 9, subfamily A, member 4 (OR9A4), mRNA. 300 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) TCATAGAGGCCCTTCGGGATG 0.428000 68 13 0 0 0.004990 0 0 LYPD2 137797 broad.mit.edu 37 8 143832508 143832508 + Missense_Mutation SNP C T T rs145933616 by1000genomes TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr8:143832508C>T uc003ywz.3 - 1 222 c.139G>A c.(139-141)Gaa>Aaa p.E47K NM_205545 NP_991108 Q6UXB3 LYPD2_HUMAN Homo sapiens LY6/PLAUR domain containing 2 (LYPD2), mRNA. 47 UPAR/Ly6. anchored to membrane|plasma membrane endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(2) 7 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) CACATGGTTTCGTTGGTGGTG 0.652000 119 25 0 0 0.005443 0 0 CYYR1 116159 broad.mit.edu 37 21 27852747 27852747 + Splice_Site SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr21:27852747C>T uc002yme.3 - 3 499 c.177_splice c.e3-1 p.S59_splice CYYR1_uc002ymd.3_Splice_Site_p.S59_splice|CYYR1_uc011ack.2_Splice_Site NM_052954 NP_443186 Q96J86 CYYR1_HUMAN Homo sapiens cysteine/tyrosine-rich 1 (CYYR1), mRNA. 59 integral to membrane large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(2) 15 ATTGCAGTGCCCCTAAAAGGA 0.398000 37 13 0 0 0.001855 0 0 CELSR2 1952 broad.mit.edu 37 1 109795360 109795360 + Missense_Mutation SNP T C C TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr1:109795360T>C uc001dxa.4 + 0 2720 c.2659T>C c.(2659-2661)Tat>Cat p.Y887H NM_001408 NP_001399 Q9HCU4 CELR2_HUMAN Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 2 (flamingo homolog, Drosophila) (CELSR2), mRNA. 887 Cadherin 7. 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) CGTGGCCCAGTATGTCTTGCG 0.562000 374 116 0 0 0.014410 0 0 ZFHX4 79776 broad.mit.edu 37 8 77761794 77761794 + Missense_Mutation SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr8:77761794G>A uc003yau.2 + 7 4079 c.3692G>A c.(3691-3693)cGt>cAt p.R1231H ZFHX4_uc003yaw.1_Missense_Mutation_p.R1186H NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA. 1186 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) GACCAAAGTCGTATCCAGATG 0.423000 HNSCC(33;0.089) 72 12 0 0 0.002450 0 0 UNC5A 90249 broad.mit.edu 37 5 176301447 176301447 + Missense_Mutation SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr5:176301447G>A uc003mey.3 + 7 1450 c.1258G>A c.(1258-1260)Gag>Aag p.E420K UNC5A_uc010jkg.1_Missense_Mutation_p.E380K NM_133369 NP_588610 Q6ZN44 UNC5A_HUMAN Homo sapiens unc-5 homolog A (C. elegans) (UNC5A), mRNA. 420 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) CTCTGAGGCCGAGGAGTTCGT 0.662000 105 30 0 0 0.013726 0 0 EVC2 132884 broad.mit.edu 37 4 5624563 5624563 + Missense_Mutation SNP G C C TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr4:5624563G>C uc003gij.3 - 13 2256 c.2202C>G c.(2200-2202)gaC>gaG p.D734E EVC2_uc003gik.3_Missense_Mutation_p.D654E|EVC2_uc011bwb.2_Missense_Mutation_p.D174E NM_147127 NP_667338 Q86UK5 LBN_HUMAN Homo sapiens Ellis van Creveld syndrome 2 (EVC2), transcript variant 1, mRNA. 734 integral to membrane NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2) 81 TCCTGAGATCGTCCAGGGCGG 0.647000 70 8 0 0 0.004482 0 0 SLC39A10 57181 broad.mit.edu 37 2 196571356 196571356 + Silent SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr2:196571356C>T uc002utg.4 + 3 1447 c.1233C>T c.(1231-1233)atC>atT p.I411I SLC39A10_uc002uth.4_Silent_p.I411I|SLC39A10_uc010zgp.2_5'UTR NM_001127257 NP_065075 Q9ULF5 S39AA_HUMAN Homo sapiens solute carrier family 39 (zinc transporter), member 10 (SLC39A10), transcript variant 1, mRNA. 411 zinc ion transport integral to membrane metal ion transmembrane transporter activity breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(16)|pancreas(1)|prostate(1)|skin(2) 34 OV - Ovarian serous cystadenocarcinoma(117;0.221) TTTGTGGTATCATTTCTATCA 0.333000 60 8 0 0 0.004482 0 0 ZNF268 10795 broad.mit.edu 37 12 133779296 133779296 + Missense_Mutation SNP A C C TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr12:133779296A>C uc010tch.2 + 5 1230 c.1024A>C c.(1024-1026)Agt>Cgt p.S342R ZNF268_uc010tbv.1_Missense_Mutation_p.S181R|ZNF268_uc010tbz.1_Missense_Mutation_p.S181R|ZNF268_uc010tcc.1_Missense_Mutation_p.S181R|ZNF268_uc010tcd.1_Missense_Mutation_p.S181R|ZNF268_uc010tbx.2_3'UTR|ZNF268_uc010tbw.2_3'UTR|ZNF268_uc010tce.2_3'UTR|ZNF268_uc010tcg.2_3'UTR|ZNF268_uc010tca.2_3'UTR|ZNF268_uc010tcf.2_Missense_Mutation_p.S342R|ZNF268_uc010tcb.2_3'UTR|ZNF268_uc021rgu.1_Missense_Mutation_p.S259R NM_001165881 NP_001159354 Q14587 ZN268_HUMAN Homo sapiens zinc finger protein 268 (ZNF268), transcript variant 2, mRNA. 342 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) GAAAACATTCAGTTTCCATTC 0.398000 14 4 0 0 0.009096 0 0 ZNF676 163223 broad.mit.edu 37 19 22363644 22363644 + Missense_Mutation SNP G A A rs11671538 TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr19:22363644G>A uc002nqs.1 - 2 1193 c.875C>T c.(874-876)tCg>tTg p.S292L NM_001001411 NP_001001411 Q8N7Q3 ZN676_HUMAN Homo sapiens zinc finger protein 676 (ZNF676), mRNA. 292 S -> W (in dbSNP:rs11671538). regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.S292S(1) 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) CTTTGAGGACGAGTTGGAAGC 0.438000 40 12 0 0 0.013537 0 0 XIRP1 165904 broad.mit.edu 37 3 39227520 39227520 + Silent SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr3:39227520C>T uc003cjk.2 - 1 3646 c.3417G>A c.(3415-3417)caG>caA p.Q1139Q XIRP1_uc003cji.3_Intron|XIRP1_uc003cjj.3_Intron|XIRP1_uc021wvz.1_Silent_p.Q1139Q NM_194293 NP_919269 Q702N8 XIRP1_HUMAN Homo sapiens xin actin-binding repeat containing 1 (XIRP1), transcript variant 1, mRNA. 1139 actin binding breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6) 71 KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065) AGATGCCATCCTGAATTGTCA 0.617000 91 9 0 0 0.008291 0 0 CALCOCO1 57658 broad.mit.edu 37 12 54118921 54118921 + Missense_Mutation SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr12:54118921G>A uc001sef.3 - 1 250 c.106C>T c.(106-108)Ctt>Ttt p.L36F CALCOCO1_uc010som.2_Missense_Mutation_p.L36F|CALCOCO1_uc010son.2_5'UTR|CALCOCO1_uc009znd.3_Missense_Mutation_p.L36F|CALCOCO1_uc001seg.3_5'UTR|CALCOCO1_uc001seh.2_Missense_Mutation_p.L36F|CALCOCO1_uc010soo.1_Missense_Mutation_p.L36F NM_020898 NP_065949 Q9P1Z2 CACO1_HUMAN Homo sapiens calcium binding and coiled-coil domain 1 (CALCOCO1), transcript variant 1, mRNA. 36 N-terminal AD (CTNNB1 binding site) (By similarity). Wnt receptor signaling pathway|steroid hormone receptor signaling pathway|transcription, DNA-dependent cytoplasm armadillo repeat domain binding|beta-catenin binding|ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|sequence-specific DNA binding|transcription regulatory region DNA binding NS(2)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 28 CCTGGGGGAAGGGTGTAGTGA 0.537000 62 14 0 0 0.003163 0 0 KIAA2022 340533 broad.mit.edu 37 X 73959290 73959290 + Missense_Mutation SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chrX:73959290C>T uc004eby.3 - 3 5118 c.4501G>A c.(4501-4503)Gtt>Att p.V1501I NM_001008537 NP_001008537 Q5QGS0 K2022_HUMAN Homo sapiens KIAA2022 (KIAA2022), mRNA. 1501 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 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 ACAGGTAAAACCCAAAAGGTT 0.358000 10 4 0 0 0.009096 0 0 POU2F2 5452 broad.mit.edu 37 19 42599534 42599534 + Silent SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr19:42599534G>A uc002osp.3 - 10 1097 c.1035C>T c.(1033-1035)ttC>ttT p.F345F POU2F2_uc002osn.3_Silent_p.F329F|POU2F2_uc002osq.3_Silent_p.F329F|POU2F2_uc002osr.2_Silent_p.F345F NM_001207025 NP_001193954 P09086 PO2F2_HUMAN Homo sapiens POU class 2 homeobox 2 (POU2F2), transcript variant 1, mRNA. 345 humoral immune response|transcription from RNA polymerase II promoter cytoplasm|nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity kidney(1)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 Prostate(69;0.059) GCCGGTTGCAGAACCAGACGC 0.622000 45 10 0 0 0.010729 0 0 OR52E2 119678 broad.mit.edu 37 11 5080094 5080094 + Missense_Mutation SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr11:5080094G>A uc010qyw.2 - 0 764 c.764C>T c.(763-765)cCa>cTa p.P255L NM_001005164 NP_001005164 Q8NGJ4 O52E2_HUMAN Homo sapiens olfactory receptor, family 52, subfamily E, member 2 (OR52E2), mRNA. 255 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|lung(13)|ovary(2)|skin(3) 20 Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086) Epithelial(150;1.03e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.191) AAAGAGGGCTGGTGTATAGAA 0.473000 70 12 0 0 0.013537 0 0 C12orf54 121273 broad.mit.edu 37 12 48880471 48880471 + Splice_Site SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr12:48880471G>A uc001rrr.3 + 4 228 c.97_splice c.e4-1 p.E33_splice C12orf54_uc009zky.1_Splice_Site NM_152319 NP_689532 Q6X4T0 CL054_HUMAN Homo sapiens chromosome 12 open reading frame 54 (C12orf54), mRNA. 33 endometrium(1)|large_intestine(4) 5 ATTTCTACAGGAAAAACAGGT 0.438000 13 3 0 0 0.009096 0 0 NKX2-1 7080 broad.mit.edu 37 14 36988476 36988476 + Missense_Mutation SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr14:36988476C>T uc001wtu.3 - 1 273 c.177G>A c.(175-177)atG>atA p.M59I SFTA3_uc001wts.3_Intron|NKX2-1_uc001wtt.3_Missense_Mutation_p.M29I|NKX2-1_uc001wtv.3_Missense_Mutation_p.M29I|BX161496_uc001wtw.1_5'Flank NM_001079668 NP_001073136 P43699 NKX21_HUMAN Homo sapiens NK2 homeobox 1 (NKX2-1), transcript variant 1, mRNA. 29 epithelial tube branching involved in lung morphogenesis|globus pallidus development|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|thyroid gland development protein binding|transcription regulatory region DNA binding large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(2) 7 all_cancers(3;4.47e-51)|Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)|Breast(36;0.165) Lung(8;1.8e-08)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.014)|all cancers(34;0.0366)|LUSC - Lung squamous cell carcinoma(13;0.132) GBM - Glioblastoma multiforme(112;0.0171) CGCCGCCCTCCATGCCCACTT 0.667000 A NSCLC 19 5 0 0 0.001168 0 0 ZNF823 55552 broad.mit.edu 37 19 11832642 11832642 + Silent SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr19:11832642G>A uc002msm.2 - 3 1833 c.1707C>T c.(1705-1707)ttC>ttT p.F569F ZNF823_uc010xmd.1_Silent_p.F387F|ZNF823_uc010dyi.1_Silent_p.F525F NM_001080493 NP_001073962 P16415 ZN823_HUMAN Homo sapiens zinc finger protein 823 (ZNF823), mRNA. 569 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4) 26 GTCCTCGAAGGAAACGGGAAC 0.428000 HNSCC(68;0.2) 48 10 0 0 0.006214 0 0 SLC22A25 387601 broad.mit.edu 37 11 62933677 62933677 + Missense_Mutation SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr11:62933677C>T uc001nwr.1 - 6 1124 c.1124G>A c.(1123-1125)gGa>gAa p.G375E SLC22A10_uc010rmo.1_Intron|SLC22A25_uc009yoq.1_Non-coding_Transcript|SLC22A25_uc001nws.1_Non-coding_Transcript|SLC22A25_uc001nwt.1_3'UTR NM_199352 NP_955384 Q6T423 S22AP_HUMAN Homo sapiens solute carrier family 22, member 25 (SLC22A25), mRNA. 375 transmembrane transport integral to membrane NS(2)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(7)|ovary(3)|skin(7) 34 AACATTGTTTCCCAGATGCTG 0.478000 41 4 0 0 0.009096 0 0 POGZ 23126 broad.mit.edu 37 1 151378399 151378399 + Nonsense_Mutation SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr1:151378399G>A uc001eyd.2 - 18 3427 c.3112C>T c.(3112-3114)Cag>Tag p.Q1038* POGZ_uc021oyq.1_Nonsense_Mutation_p.Q985*|POGZ_uc010pdb.2_Nonsense_Mutation_p.Q1029*|POGZ_uc010pdc.2_Nonsense_Mutation_p.Q976*|POGZ_uc009wmv.2_Nonsense_Mutation_p.Q943*|POGZ_uc001eyf.2_Nonsense_Mutation_p.Q994*|POGZ_uc010pdd.2_Nonsense_Mutation_p.Q529* NM_015100 NP_055915 Q7Z3K3 POGZ_HUMAN Homo sapiens pogo transposable element with ZNF domain (POGZ), transcript variant 1, mRNA. 1038 HTH CENPB-type. cell division|kinetochore assembly|mitotic sister chromatid cohesion|regulation of transcription, DNA-dependent cytoplasm|nuclear chromatin DNA binding|protein binding|zinc ion binding NS(1)|breast(1)|endometrium(10)|kidney(3)|large_intestine(10)|liver(2)|lung(11)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1) 47 Lung SC(34;0.00471)|Ovarian(49;0.00672)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181) TGTTCGCGCTGGGTTAGCACC 0.517000 99 16 0 0 0.006122 0 0 REPS1 85021 broad.mit.edu 37 6 139262517 139262517 + Missense_Mutation SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr6:139262517G>A uc003qii.3 - 7 1669 c.1090C>T c.(1090-1092)Cct>Tct p.P364S REPS1_uc003qig.4_Missense_Mutation_p.P364S|REPS1_uc011edr.2_Missense_Mutation_p.P364S|REPS1_uc003qij.3_Missense_Mutation_p.P364S|REPS1_uc003qik.3_5'UTR NM_031922 NP_114128 Q96D71 REPS1_HUMAN Homo sapiens RALBP1 associated Eps domain containing 1 (REPS1), transcript variant 1, mRNA. 364 EH 2. coated pit|plasma membrane SH3 domain binding|calcium ion binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2) 19 GBM - Glioblastoma multiforme(68;0.000434)|OV - Ovarian serous cystadenocarcinoma(155;0.000548) AAGCTTTCAGGAAGTTTTTCT 0.403000 95 12 0 0 0.010729 0 0 ZNF831 128611 broad.mit.edu 37 20 57828989 57828989 + Missense_Mutation SNP A G G TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr20:57828989A>G uc002yan.3 + 4 4225 c.4225A>G c.(4225-4227)Act>Gct p.T1409A NM_178457 NP_848552 Q5JPB2 ZN831_HUMAN Homo sapiens zinc finger protein 831 (ZNF831), mRNA. 1409 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) TGGTGACTGTACTACTCACAG 0.473000 105 16 0 0 0.006122 0 0 BTN1A1 696 broad.mit.edu 37 6 26506930 26506930 + Silent SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr6:26506930G>A uc003nif.4 + 3 786 c.729G>A c.(727-729)ctG>ctA p.L243L NM_001732 NP_001723 Q13410 BT1A1_HUMAN Homo sapiens butyrophilin, subfamily 1, member A1 (BTN1A1), mRNA. 243 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 TCCCAAGGCTGACTCCCTGGA 0.463000 221 34 0 0 0.005524 0 0 CDON 50937 broad.mit.edu 37 11 125889648 125889648 + Missense_Mutation SNP A C C TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr11:125889648A>C uc009zbw.3 - 3 490 c.362T>G c.(361-363)tTt>tGt p.F121C CDON_uc001qdc.4_Missense_Mutation_p.F121C|CDON_uc001qdd.4_Non-coding_Transcript|CDON_uc009zbx.3_Missense_Mutation_p.F121C NM_001243597 NP_001230526 Q4KMG0 CDON_HUMAN Homo sapiens Cdon homolog (mouse) (CDON), transcript variant 1, mRNA. 121 Ig-like C2-type 2. cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation integral to membrane|plasma membrane protein binding breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(9)|ovary(3)|prostate(2)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 61 all_hematologic(175;0.177) Breast(109;0.00157)|Lung NSC(97;0.0127)|all_lung(97;0.0133)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.51e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0604) GGATGAACCAAAATCACCAAG 0.358000 25 14 0 0 0.001855 0 0 DNAH5 1767 broad.mit.edu 37 5 13883121 13883121 + Silent SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr5:13883121G>A uc003jfd.2 - 19 3108 c.3066C>T c.(3064-3066)gtC>gtT p.V1022V NM_001369 NP_001360 Q8TE73 DYH5_HUMAN Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA. 1022 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity p.V1022I(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) CAGGGGCCATGACGATGTTGG 0.522000 Kartagener syndrome 87 22 0 0 0.012319 0 0 ADAM33 80332 broad.mit.edu 37 20 3651787 3651787 + Silent SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr20:3651787G>A uc002wit.3 - 18 2193 c.2106C>T c.(2104-2106)ttC>ttT p.F702F ADAM33_uc002wiq.1_5'Flank|ADAM33_uc002wir.1_Silent_p.F702F|ADAM33_uc002wis.3_Silent_p.F198F|ADAM33_uc002wiu.3_Silent_p.F676F|AX748440_uc002wiv.1_5'Flank|ADAM33_uc002wiw.1_Non-coding_Transcript NM_025220 NP_079496 Q9BZ11 ADA33_HUMAN Homo sapiens ADAM metallopeptidase domain 33 (ADAM33), transcript variant 1, mRNA. 702 proteolysis integral to membrane metalloendopeptidase activity|zinc ion binding haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|skin(3) 29 TGGCCAGCAGGAAGGTGTCAT 0.662000 17 4 0 0 0.009096 0 0 OR9A4 130075 broad.mit.edu 37 7 141618934 141618934 + Missense_Mutation SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr7:141618934C>T uc003vwu.1 + 0 259 c.259C>T c.(259-261)Cct>Tct p.P87S NM_001001656 NP_001001656 Q8NGU2 OR9A4_HUMAN Homo sapiens olfactory receptor, family 9, subfamily A, member 4 (OR9A4), mRNA. 87 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) ATTGCTGCTCCCTGGGATGCA 0.522000 104 34 0 0 0.003271 0 0 PHF21A 51317 broad.mit.edu 37 11 45987070 45987070 + Silent SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr11:45987070G>A uc001ncc.4 - 8 1413 c.789C>T c.(787-789)ccC>ccT p.P263P PHF21A_uc001ncb.4_Silent_p.P264P|PHF21A_uc009ykx.3_Silent_p.P264P|PHF21A_uc001nce.2_Silent_p.P264P|PHF21A_uc001nca.1_5'UTR NM_001101802 NP_001095272 Q96BD5 PF21A_HUMAN Homo sapiens PHD finger protein 21A (PHF21A), transcript variant 1, mRNA. 263 blood coagulation|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|transcription, DNA-dependent histone deacetylase complex DNA binding|zinc ion binding central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(10)|lung(9)|skin(2)|upper_aerodigestive_tract(2) 29 TCAGCATGACGGGCCTCTGGA 0.562000 OREG0020936 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 25 13 0 0 0.001855 0 0 ADAMTS16 170690 broad.mit.edu 37 5 5240021 5240021 + Missense_Mutation SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr5:5240021G>A uc003jdl.3 + 15 2644 c.2506G>A c.(2506-2508)Gag>Aag p.E836K ADAMTS16_uc003jdk.1_Missense_Mutation_p.E836K NM_139056 NP_620687 Q8TE57 ATS16_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 16 (ADAMTS16), mRNA. 836 Spacer. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 107 ACCAACCAACGAGACACTGAT 0.493000 90 20 0 0 0.014323 0 0 HOMER3 9454 broad.mit.edu 37 19 19042209 19042209 + Silent SNP G C C TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr19:19042209G>C uc002nku.2 - 7 1472 c.819C>G c.(817-819)acC>acG p.T273T HOMER3_uc002nkp.1_Non-coding_Transcript|HOMER3_uc002nko.1_Non-coding_Transcript|HOMER3_uc010eby.2_Silent_p.T237T|HOMER3_uc010ebz.2_Silent_p.T273T|HOMER3_uc002nkw.2_Silent_p.T273T|HOMER3_uc002nkv.2_Silent_p.T273T NM_004838 NP_004829 Q9NSC5 HOME3_HUMAN Homo sapiens homer homolog 3 (Drosophila) (HOMER3), transcript variant 2, mRNA. 273 metabotropic glutamate receptor signaling pathway|protein targeting cell junction|cytoplasm|postsynaptic density|postsynaptic membrane protein binding endometrium(3)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1) 10 Epithelial(12;0.0107) GACTCTTCAGGGTCTGAATCT 0.637000 82 18 0 0 0.004990 0 0 ATP1B4 23439 broad.mit.edu 37 X 119504679 119504679 + Silent SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chrX:119504679G>A uc004esr.3 + 2 522 c.438G>A c.(436-438)acG>acA p.T146T ATP1B4_uc004esq.3_Silent_p.T142T|ATP1B4_uc011mtx.2_Silent_p.T111T|ATP1B4_uc011mty.2_Intron NM_001142447 NP_001135919 Q9UN42 AT1B4_HUMAN Homo sapiens ATPase, Na+/K+ transporting, beta 4 polypeptide (ATP1B4), transcript variant 1, mRNA. 146 ATP biosynthetic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to plasma membrane|nuclear inner membrane sodium:potassium-exchanging ATPase activity p.K146N(1) 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 CAACCTTCACGGAGCGGGTAA 0.478000 93 53 0 0 0.014410 0 0 PCDHAC2 56134 broad.mit.edu 37 5 140249777 140249777 + Silent SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr5:140249777G>A uc003lia.2 + 0 1947 c.1089G>A c.(1087-1089)caG>caA p.Q363Q 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_uc011dae.2_Silent_p.Q363Q NM_018902 NP_061725 Q9Y5I4 PCDC2_HUMAN Homo sapiens protocadherin alpha 11 (PCDHA11), transcript variant 1, mRNA. 379 Cadherin 3. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding p.Q363H(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) AGGACGCTCAGCCCAGCACGG 0.582000 52 10 0 0 0.006214 0 0 QSER1 79832 broad.mit.edu 37 11 32953685 32953685 + Missense_Mutation SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr11:32953685C>T uc001mty.3 + 3 761 c.494C>T c.(493-495)gCc>gTc p.A165V QSER1_uc001mtz.1_Missense_Mutation_p.A165V|QSER1_uc001mua.3_5'Flank NM_001076786 NP_001070254 Q2KHR3 QSER1_HUMAN Homo sapiens glutamine and serine rich 1 (QSER1), mRNA. 165 Ser-rich. breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1) 48 Breast(20;0.158) ACTCCTCAAGCCTACAGTTCA 0.458000 115 38 0 0 0.006230 0 0 TRIOBP 11078 broad.mit.edu 37 22 38121646 38121646 + Missense_Mutation SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr22:38121646C>T uc003atr.3 + 6 3354 c.3083C>T c.(3082-3084)tCg>tTg p.S1028L TRIOBP_uc003atu.3_Missense_Mutation_p.S856L|TRIOBP_uc003atq.1_Missense_Mutation_p.S1028L|TRIOBP_uc003ats.1_Missense_Mutation_p.S856L NM_001039141 NP_001034230 Q9H2D6 TARA_HUMAN Homo sapiens TRIO and F-actin binding protein (TRIOBP), transcript variant 6, mRNA. 1028 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) CGAGCCTCTTCGCCCCCTCGC 0.657000 91 17 0 0 0.006122 0 0 RTTN 25914 broad.mit.edu 37 18 67671411 67671411 + Silent SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr18:67671411G>A uc002lkp.2 - 48 6725 c.6657C>T c.(6655-6657)ctC>ctT p.L2219L RTTN_uc002lko.2_Non-coding_Transcript|RTTN_uc010xfb.1_Silent_p.L1307L|RTTN_uc002lkn.2_Intron|RTTN_uc010dqp.2_Silent_p.L471L NM_173630 NP_775901 Q86VV8 RTTN_HUMAN Homo sapiens rotatin (RTTN), mRNA. 2219 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) GGAGCTGCACGAGGTTTTCAA 0.413000 39 8 0 0 0.006214 0 0 IQSEC3 440073 broad.mit.edu 37 12 247543 247543 + Silent SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr12:247543C>T uc001qhw.2 + 3 1014 c.1014C>T c.(1012-1014)atC>atT p.I338I IQSEC3_uc001qhu.1_Silent_p.I35I|LOC574538_uc001qhv.1_Non-coding_Transcript NM_001170738 NP_001164209 Q9UPP2 IQEC3_HUMAN Homo sapiens IQ motif and Sec7 domain 3 (IQSEC3), transcript variant 1, mRNA. 338 IQ. regulation of ARF protein signal transduction cytoplasm ARF guanyl-nucleotide exchange factor activity p.I338I(1)|p.I35I(1) central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031) OV - Ovarian serous cystadenocarcinoma(31;0.00456) LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179) TCGAGAAAATCCGCAACTCGC 0.632000 26 4 0 0 0.009096 0 0 DOPEY2 9980 broad.mit.edu 37 21 37602939 37602940 + Missense_Mutation DNP GG AA AA TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr21:37602939_37602940GG>AA uc002yvg.3 + 13 1936_1937 c.1857_1858GG>AA c.(1855-1860)aagggc>aaAAgc p.G620S DOPEY2_uc011aeb.2_Missense_Mutation_p.G620S NM_005128 NP_005119 Q9Y3R5 DOP2_HUMAN Homo sapiens dopey family member 2 (DOPEY2), mRNA. 620 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 TTTGGAAGAAGGGCGGGAGCAT 0.540000 97 13 0 0 0.004672 0 0 C3P1 388503 broad.mit.edu 37 19 10169529 10169529 + RNA SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr19:10169529G>A uc010dwx.2 + 17 c.2164G>A Homo sapiens complement component 3 precursor pseudogene (C3P1), non-coding RNA. endometrium(4)|large_intestine(2)|lung(6)|urinary_tract(1) 13 TTCCTGGAGAGAAAACTTCCC 0.562000 62 12 0 0 0.004007 0 0 ARAP2 116984 broad.mit.edu 37 4 36083903 36083903 + Missense_Mutation SNP C T T rs144848991 TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr4:36083903C>T uc003gsq.2 - 29 4852 c.4514G>A c.(4513-4515)gGa>gAa p.G1505E NM_015230 NP_056045 Q8WZ64 ARAP2_HUMAN Homo sapiens ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2 (ARAP2), mRNA. 1505 PH 5. regulation of ARF GTPase activity|small GTPase mediated signal transduction cytosol ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1) 82 TGCGGTCAATCCCCAGCTGCA 0.308000 15 7 0 0 0.003080 0 0 CTIF 9811 broad.mit.edu 37 18 46190191 46190191 + Silent SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr18:46190191C>T uc002ldd.3 + 4 680 c.321C>T c.(319-321)tcC>tcT p.S107S CTIF_uc002ldc.3_Silent_p.S107S NM_001142397 NP_001135869 O43310 CTIF_HUMAN Homo sapiens CBP80/20-dependent translation initiation factor (CTIF), transcript variant 2, mRNA. 107 Interaction with NCBP1/CBP80. nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational initiation perinuclear region of cytoplasm protein binding breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 31 CCTTCGATTCCTTCAGGTAAC 0.562000 OREG0024970 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 72 20 0 0 0.014323 0 0 DHX57 90957 broad.mit.edu 37 2 39090550 39090550 + Silent SNP T C C TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr2:39090550T>C uc002rrf.3 - 2 435 c.336A>G c.(334-336)aaA>aaG p.K112K DHX57_uc002rre.3_5'UTR|DHX57_uc002rrg.3_Silent_p.K112K NM_198963 NP_945314 Q6P158 DHX57_HUMAN Homo sapiens DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57 (DHX57), mRNA. 112 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) GGAGAAGAGCTTTCACTTTCT 0.393000 90 17 0 0 0.004990 0 0 MRS2 57380 broad.mit.edu 37 6 24423265 24423265 + Missense_Mutation SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr6:24423265C>T uc011djl.2 + 10 1339 c.1217C>T c.(1216-1218)cCa>cTa p.P406L MRS2_uc003nea.3_Missense_Mutation_p.P403L|MRS2_uc003neb.3_Missense_Mutation_p.P403L|MRS2_uc011djm.2_Non-coding_Transcript|MRS2_uc011djn.2_Missense_Mutation_p.P353L NM_020662 NP_065713 Q9HD23 MRS2_HUMAN Homo sapiens MRS2 magnesium homeostasis factor homolog (S. cerevisiae) (MRS2), mRNA. 403 ion transport integral to membrane|mitochondrial inner membrane breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)|stomach(1) 12 CTAGAAGCTCCATTGCCTCCT 0.478000 109 14 0 0 0.003163 0 0 SAP130 79595 broad.mit.edu 37 2 128703068 128703068 + Missense_Mutation SNP A G G TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr2:128703068A>G uc010fmd.2 - 18 3073 c.2941T>C c.(2941-2943)Tgg>Cgg p.W981R SAP130_uc002tpn.2_Missense_Mutation_p.W706R|SAP130_uc002tpp.2_Missense_Mutation_p.W946R NM_001145928 NP_001139400 Q9H0E3 SP130_HUMAN Homo sapiens Sin3A-associated protein, 130kDa (SAP130), transcript variant 1, mRNA. 946 Interactions with SIN3A and HDAC1. histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent STAGA complex transcription coactivator activity p.K981K(1) 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) TGGACTTTCCAGCCTTGAGCA 0.438000 49 9 0 0 0.006214 0 0 LY6K 54742 broad.mit.edu 37 8 143784711 143784712 + Missense_Mutation DNP GG TA TA TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr8:143784711_143784712GG>TA uc011ljv.2 + 2 837_838 c.420_421GG>TA c.(418-423)atgggt>atTAgt p.140_141MG>IS LOC100288181_uc022bcf.1_Non-coding_Transcript|LY6K_uc011ljw.2_3'UTR|LY6K_uc011ljx.2_3'UTR NM_017527 NP_059997 Q17RY6 LY6K_HUMAN Homo sapiens lymphocyte antigen 6 complex, locus K (LY6K), transcript variant 1, mRNA. 140 UPAR/Ly6. anchored to membrane|cytoplasm|extracellular region|nucleolus|plasma membrane p.A140A(1) NS(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4) 10 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) CTGGGAGCATGGGTGAGAGCTG 0.545000 76 14 0 0 0.004672 0 0 SDPR 8436 broad.mit.edu 37 2 192701396 192701396 + Silent SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr2:192701396G>A uc002utb.3 - 1 886 c.531C>T c.(529-531)tcC>tcT p.S177S NM_004657 NP_004648 O95810 SDPR_HUMAN Homo sapiens serum deprivation response (SDPR), mRNA. 177 caveola|cytosol phosphatidylserine binding|protein binding p.V176I(1) 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) CCACGGCACCGGAAACGGGCT 0.488000 33 9 0 0 0.004482 0 0 DOCK2 1794 broad.mit.edu 37 5 169504715 169504715 + Splice_Site SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr5:169504715C>T uc003maf.3 + 48 4947 c.4867_splice c.e48-1 p.P1623_splice DOCK2_uc011der.2_Splice_Site|DOCK2_uc010jjm.3_Splice_Site_p.P1115_splice|DOCK2_uc003mah.3_Splice_Site_p.P179_splice NM_004946 NP_004937 Q92608 DOCK2_HUMAN Homo sapiens dedicator of cytokinesis 2 (DOCK2), mRNA. 1623 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 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) CCACCACAGCCTGACTTTGAC 0.572000 63 16 0 0 0.004990 0 0 DOCK2 1794 broad.mit.edu 37 5 169122807 169122807 + Splice_Site SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr5:169122807G>A uc003maf.3 + 10 924 c.844_splice c.e10-1 p.D282_splice DOCK2_uc011der.2_Splice_Site NM_004946 NP_004937 Q92608 DOCK2_HUMAN Homo sapiens dedicator of cytokinesis 2 (DOCK2), mRNA. 282 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 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) TTCCCCCCAGGATCTTGGAAA 0.393000 70 12 0 0 0.001855 0 0 SCN9A 6335 broad.mit.edu 37 2 167056225 167056225 + Missense_Mutation SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr2:167056225G>A uc010fpl.3 - 26 5232 c.4891C>T c.(4891-4893)Cct>Tct p.P1631S BC051759_uc002udp.3_Non-coding_Transcript NM_002977 NP_002968 Q15858 SCN9A_HUMAN Homo sapiens sodium channel, voltage-gated, type IX, alpha subunit (SCN9A), mRNA. 1642 voltage-gated sodium channel complex voltage-gated sodium channel activity NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 108 Lamotrigine(DB00555)|Lidocaine(DB00281) AACAACGCAGGAAGGGACATC 0.488000 95 13 0 0 0.001855 0 0 ITK 3702 broad.mit.edu 37 5 156655358 156655358 + Silent SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr5:156655358C>T uc003lwo.1 + 6 782 c.700C>T c.(700-702)Ctg>Ttg p.L234L NM_005546 NP_005537 Q08881 ITK_HUMAN Homo sapiens IL2-inducible T-cell kinase (ITK), mRNA. 234 T cell receptor signaling pathway|cellular defense response|intracellular signal transduction cytosol|plasma membrane ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(25)|ovary(8)|prostate(2)|skin(7)|stomach(2)|upper_aerodigestive_tract(1) 70 Renal(175;0.00212) Medulloblastoma(196;0.0354)|all_neural(177;0.1) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) TCCAAATAATCTGGAAACCTA 0.294000 T SYK peripheral T-cell lymphoma 262 61 0 0 0.014410 0 0 CLCNKA 1187 broad.mit.edu 37 1 16356460 16356460 + Splice_Site SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr1:16356460G>A uc001axu.3 + 14 1378 c.1298_splice c.e14-1 p.G433_splice CLCNKA_uc001axt.3_Splice_Site|CLCNKA_uc010obw.2_Splice_Site_p.G390_splice|CLCNKA_uc001axv.3_Splice_Site_p.G433_splice|CLCNKA_uc010obx.1_Splice_Site_p.G80_splice|CLCNKA_uc010oby.1_Splice_Site_p.G169_splice|CLCNKA_uc021ogl.1_Intron NM_004070 NP_004061 P51800 CLCKA_HUMAN Homo sapiens chloride channel Ka (CLCNKA), transcript variant 1, mRNA. 433 excretion chloride channel complex|integral to plasma membrane voltage-gated chloride channel activity breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1) 19 Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649) Niflumic Acid(DB04552) CTGTGGCCAGGAGCTGCCATC 0.642000 59 12 0 0 0.013537 0 0 RRN3 54700 broad.mit.edu 37 16 15166834 15166834 + Silent SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr16:15166834G>A uc002dde.3 - 11 1169 c.1101C>T c.(1099-1101)ttC>ttT p.F367F PDXDC1_uc002ddc.3_Intron|RRN3_uc010uzp.2_Silent_p.F235F|RRN3_uc010uzq.2_Silent_p.F337F NM_018427 NP_060897 Q9NYV6 RRN3_HUMAN Homo sapiens RRN3 RNA polymerase I transcription factor homolog (S. cerevisiae) (RRN3), mRNA. 367 regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase I promoter nucleolus|nucleoplasm NS(2)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|prostate(2) 20 GGTAAAACATGAAAAACTGTA 0.383000 39 8 0 0 0.003080 0 0 KRT39 390792 broad.mit.edu 37 17 39118439 39118439 + Missense_Mutation SNP A G G TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr17:39118439A>G uc002hvo.1 - 4 1007 c.971T>C c.(970-972)gTt>gCt p.V324A KRT39_uc010wfm.1_Missense_Mutation_p.V57A NM_213656 NP_998821 Q6A163 K1C39_HUMAN Homo sapiens keratin 39 (KRT39), mRNA. 324 Coil 2.|Rod. intermediate filament structural molecule activity NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1) 17 Breast(137;0.00043)|Ovarian(249;0.15) CTGCAGTTCAACCTCCAGAGT 0.498000 215 32 0 0 0.013726 0 0 OR10J3 441911 broad.mit.edu 37 1 159284091 159284091 + Missense_Mutation SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr1:159284091C>T uc010piu.2 - 0 359 c.359G>A c.(358-360)gGa>gAa p.G120E NM_001004467 NP_001004467 Q5JRS4 O10J3_HUMAN Homo sapiens olfactory receptor, family 10, subfamily J, member 3 (OR10J3), mRNA. 120 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 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) GCGGTCATATCCCATGACTGT 0.517000 57 20 0 0 0.010504 0 0 FRMPD1 22844 broad.mit.edu 37 9 37744484 37744484 + Missense_Mutation SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr9:37744484G>A uc004aag.1 + 15 2499 c.2455G>A c.(2455-2457)Gga>Aga p.G819R FRMPD1_uc004aah.1_Missense_Mutation_p.G819R NM_014907 NP_055722 Q5SYB0 FRPD1_HUMAN Homo sapiens FERM and PDZ domain containing 1 (FRMPD1), mRNA. 819 cytoskeleton|cytosol|plasma membrane NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 93 GBM - Glioblastoma multiforme(29;0.00655) TGGGCCAGATGGAAGACAGCC 0.532000 75 30 0 0 0.007291 0 0 RIMS1 22999 broad.mit.edu 37 6 73108726 73108726 + Missense_Mutation SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr6:73108726G>A uc003pga.3 + 32 4867 c.4790G>A c.(4789-4791)cGa>cAa p.R1597Q RIMS1_uc011dyb.2_Missense_Mutation_p.R994Q|RIMS1_uc003pgc.3_Missense_Mutation_p.R1012Q|RIMS1_uc010kaq.3_Missense_Mutation_p.R917Q|RIMS1_uc011dyc.2_Missense_Mutation_p.R722Q|RIMS1_uc010kar.3_Missense_Mutation_p.R665Q|RIMS1_uc011dyd.2_Missense_Mutation_p.R731Q|RIMS1_uc003pge.3_Missense_Mutation_p.R637Q|RIMS1_uc003pgf.3_Missense_Mutation_p.R597Q|RIMS1_uc003pgi.3_Missense_Mutation_p.R413Q|RIMS1_uc003pgg.3_Missense_Mutation_p.R493Q|RIMS1_uc003pgh.3_Missense_Mutation_p.R464Q|RIMS1_uc003pgd.3_Missense_Mutation_p.R663Q|RIMS1_uc011dye.2_Missense_Mutation_p.R403Q|RIMS1_uc011dyf.2_Missense_Mutation_p.R221Q|RIMS1_uc011dyg.2_Missense_Mutation_p.R124Q NM_014989 NP_055804 Q86UR5 RIMS1_HUMAN Homo sapiens regulating synaptic membrane exocytosis 1 (RIMS1), transcript variant 1, mRNA. 1597 C2 2. calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception cell junction|presynaptic membrane Rab GTPase binding|metal ion binding p.R1597Q(2) NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 102 all_epithelial(107;0.179)|all_hematologic(105;0.212) AGAATTGCACGAAAAACCCTT 0.353000 30 13 0 0 0.001855 0 0 PUM2 23369 broad.mit.edu 37 2 20508338 20508338 + Missense_Mutation SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr2:20508338G>A uc002rds.1 - 4 544 c.526C>T c.(526-528)Cct>Tct p.P176S PUM2_uc002rdt.1_Missense_Mutation_p.P176S|PUM2_uc002rdr.2_Missense_Mutation_p.P115S|PUM2_uc010yjy.1_Missense_Mutation_p.P176S|PUM2_uc002rdu.1_Missense_Mutation_p.P176S|PUM2_uc010yjz.1_Missense_Mutation_p.P115S NM_015317 NP_056132 Q8TB72 PUM2_HUMAN Homo sapiens pumilio homolog 2 (Drosophila) (PUM2), mRNA. 176 Interaction with SNAPIN. regulation of translation perinuclear region of cytoplasm|stress granule RNA binding|protein binding breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(7)|lung(13)|ovary(2)|prostate(4)|urinary_tract(3) 42 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CGACTTCCAGGAGTACGACTA 0.398000 48 9 0 0 0.006214 0 0 XIRP2 129446 broad.mit.edu 37 2 168104646 168104646 + Silent SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr2:168104646G>A uc002udx.3 + 8 6833 c.6744G>A c.(6742-6744)ttG>ttA p.L2248L XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Silent_p.L2073L|XIRP2_uc010fpq.3_Silent_p.L2026L|XIRP2_uc010fpr.3_Intron NM_152381 NP_689594 A4UGR9 XIRP2_HUMAN Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA. 2073 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 ATGTTCACTTGAAAAGCCAGG 0.368000 27 5 0 0 0.001168 0 0 AHNAK2 113146 broad.mit.edu 37 14 105411484 105411484 + Missense_Mutation SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr14:105411484G>A uc010axc.1 - 6 10424 c.10304C>T c.(10303-10305)tCt>tTt p.S3435F AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Missense_Mutation_p.S3335F NM_138420 NP_612429 Q8IVF2 AHNK2_HUMAN Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA. 3435 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) GCTGGGCAGAGACACCTCCAC 0.632000 117 33 0 0 0.013726 0 0 OR52N4 390072 broad.mit.edu 37 11 5776340 5776340 + Missense_Mutation SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr11:5776340C>T uc001mbu.3 + 0 418 c.370C>T c.(370-372)Cgc>Tgc p.R124C TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.2_Intron NM_001005175 NP_001005175 Q8NGI2 O52N4_HUMAN Homo sapiens olfactory receptor, family 52, subfamily N, member 4 (OR52N4), mRNA. 124 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 26 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;1.87e-10)|LUSC - Lung squamous cell carcinoma(625;0.114)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.197) GGCCCTGGATCGCTATGTGGC 0.493000 116 22 0 0 0.002780 0 0 ZNF34 80778 broad.mit.edu 37 8 145999437 145999437 + Missense_Mutation SNP C G G TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr8:145999437C>G uc003zdy.4 - 5 999 c.897G>C c.(895-897)agG>agC p.R299S ZNF34_uc010mgb.3_Missense_Mutation_p.R196S|ZNF34_uc003zdx.4_Missense_Mutation_p.R278S NM_030580 NP_085057 Q8IZ26 ZNF34_HUMAN Homo sapiens zinc finger protein 34 (ZNF34), mRNA. 299 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|skin(1) 11 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) Acute lymphoblastic leukemia(644;0.221) OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;5.18e-38)|all cancers(56;4.41e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11) GBM - Glioblastoma multiforme(99;0.0179) CTGAGTGCATCCTTCGGTGAT 0.532000 37 10 0 0 0.008291 0 0 NCKAP1L 3071 broad.mit.edu 37 12 54926004 54926004 + Silent SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr12:54926004G>A uc001sgc.4 + 25 2911 c.2832G>A c.(2830-2832)aaG>aaA p.K944K NCKAP1L_uc010sox.2_Silent_p.K486K|NCKAP1L_uc010soy.2_Silent_p.K894K NM_005337 NP_005328 P55160 NCKPL_HUMAN Homo sapiens NCK-associated protein 1-like (NCKAP1L), transcript variant 1, mRNA. 944 B cell homeostasis|B cell receptor signaling pathway|T cell homeostasis|actin polymerization-dependent cell motility|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of T cell proliferation|positive regulation of actin filament polymerization|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|protein complex assembly|response to drug SCAR complex|cytosol|integral to plasma membrane|membrane fraction Rac GTPase activator activity|protein complex binding|protein kinase activator activity NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2) 80 AGTGCTTGAAGGAGTTTGTCA 0.438000 56 7 0 0 0.004482 0 0 KLHL1 57626 broad.mit.edu 37 13 70293705 70293705 + Missense_Mutation SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr13:70293705G>A uc001vip.3 - 8 2605 c.1811C>T c.(1810-1812)tCa>tTa p.S604L KLHL1_uc010thm.2_Missense_Mutation_p.S543L NM_020866 NP_065917 Q9NR64 KLHL1_HUMAN Homo sapiens kelch-like 1 (Drosophila) (KLHL1), mRNA. 604 actin cytoskeleton organization cytoplasm|cytoskeleton actin binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1) 84 Breast(118;0.000162) COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211) ACCTCCAACTGAATACAACCT 0.333000 31 6 0 0 0.003080 0 0 TTN 7273 broad.mit.edu 37 2 179435133 179435133 + Silent SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr2:179435133C>T uc021vsy.1 - 274 68247 c.68022G>A c.(68020-68022)gtG>gtA p.V22674V MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Silent_p.V16369V|TTN_uc021vta.1_Silent_p.V16302V|TTN_uc021vtb.1_Silent_p.V16177V NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 23601 Fibronectin type-III 64. 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) CTCTCCTTTCCACAATATAAT 0.438000 33 11 0 0 0.008291 0 0 FXYD5 53827 broad.mit.edu 37 19 35657309 35657309 + Missense_Mutation SNP T C C TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr19:35657309T>C uc010xsq.2 + 7 656 c.568T>C c.(568-570)Tgg>Cgg p.W190R FXYD5_uc002nyg.2_Intron|FXYD5_uc021usk.1_Intron|FXYD5_uc002nyh.2_Intron|FXYD5_uc021usl.1_Intron|FXYD5_uc002nyi.2_Intron|FXYD5_uc002nyj.1_5'Flank NM_144779 NP_659003 Q96DB9 FXYD5_HUMAN Homo sapiens FXYD domain containing ion transport regulator 5 (FXYD5), transcript variant 1, mRNA. 0 microvillus assembly|negative regulation of calcium-dependent cell-cell adhesion integral to membrane actin binding|cadherin binding|ion channel activity endometrium(2)|kidney(1)|large_intestine(3)|lung(3) 9 all_lung(56;9.4e-09)|Lung NSC(56;1.4e-08)|Esophageal squamous(110;0.162) Epithelial(14;5.75e-22)|OV - Ovarian serous cystadenocarcinoma(14;3.17e-20)|all cancers(14;7.07e-19)|LUSC - Lung squamous cell carcinoma(66;0.0221) CAAAGGTCCCTGGGCAATTTT 0.453000 35 5 0 0 0.000602 0 0 CACNG3 10368 broad.mit.edu 37 16 24373110 24373110 + Missense_Mutation SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr16:24373110C>T uc002dmf.3 + 3 2076 c.874C>T c.(874-876)Cac>Tac p.H292Y NM_006539 NP_006530 O60359 CCG3_HUMAN Homo sapiens calcium channel, voltage-dependent, gamma subunit 3 (CACNG3), mRNA. 292 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) TCTACAGTTCCACAATTCCAC 0.562000 57 24 0 0 0.003330 0 0 XIRP2 129446 broad.mit.edu 37 2 168101368 168101368 + Missense_Mutation SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr2:168101368G>A uc002udx.3 + 8 3555 c.3466G>A c.(3466-3468)Gag>Aag p.E1156K XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Missense_Mutation_p.E981K|XIRP2_uc010fpq.3_Missense_Mutation_p.E934K|XIRP2_uc010fpr.3_Intron NM_152381 NP_689594 A4UGR9 XIRP2_HUMAN Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA. 981 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 AAAACAGGAGGAGATCCAAGG 0.398000 43 11 0 0 0.010729 0 0 KCNJ6 3763 broad.mit.edu 37 21 39086776 39086776 + Silent SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr21:39086776C>T uc011aej.1 - 2 737 c.684G>A c.(682-684)agG>agA p.R228R KCNJ6_uc002ywo.2_Silent_p.R228R NM_002240 NP_002231 P48051 IRK6_HUMAN Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 6 (KCNJ6), mRNA. 228 synaptic transmission Golgi apparatus|voltage-gated potassium channel complex G-protein activated inward rectifier potassium channel activity|protein binding breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 22 Halothane(DB01159) TGTGGGAATTCCTAAGGTCCC 0.532000 50 12 0 0 0.001855 0 0 SLIT2 9353 broad.mit.edu 37 4 20620412 20620412 + Missense_Mutation SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr4:20620412G>A uc003gpr.1 + 36 4574 c.4370G>A c.(4369-4371)aGg>aAg p.R1457K SLIT2_uc003gps.1_Missense_Mutation_p.R1449K NM_004787 NP_004778 O94813 SLIT2_HUMAN Homo sapiens slit homolog 2 (Drosophila) (SLIT2), mRNA. 1457 CTCK. Roundabout signaling pathway|apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|ureteric bud development cell surface|cytoplasm|extracellular space|plasma membrane GTPase inhibitor activity|Roundabout binding|calcium ion binding|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1) 116 CGAGGGGAAAGGATAAGAGAT 0.448000 63 14 0 0 0.002450 0 0 FNBP4 23360 broad.mit.edu 37 11 47776089 47776089 + Silent SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr11:47776089G>A uc009ylv.3 - 2 594 c.441C>T c.(439-441)aaC>aaT p.N147N FNBP4_uc001ngj.3_Silent_p.N54N|FNBP4_uc001ngl.2_Intron NM_015308 NP_056123 Q8N3X1 FNBP4_HUMAN Homo sapiens formin binding protein 4 (FNBP4), mRNA. 147 NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 44 CCGCTAGGAAGTTGGCCAATG 0.418000 66 11 0 0 0.010729 0 0 EGR4 1961 broad.mit.edu 37 2 73519395 73519395 + Silent SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr2:73519395C>T uc010yrj.2 - 1 1035 c.960G>A c.(958-960)ggG>ggA p.G320G EGR4_uc010yrk.1_Silent_p.G319G NM_001965 NP_001956 B7ZKU3 B7ZKU3_HUMAN Homo sapiens early growth response 4 (EGR4), mRNA. 216 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 ACCCACAGTTCCCTGGGGCCC 0.672000 19 4 0 0 0.000602 0 0 TRA 0 broad.mit.edu 37 14 22180973 22180973 + Missense_Mutation SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr14:22180973G>A uc021roz.1 + 1 253 c.245G>A c.(244-246)cGa>cAa p.R82Q Homo sapiens mRNA for T cell receptor alpha variable 2, partial cds, clone: SEB 280. CAGCAGGGACGATACAACATG 0.512000 151 38 0 0 0.007835 0 0 RNF219 79596 broad.mit.edu 37 13 79191042 79191042 + Missense_Mutation SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr13:79191042C>T uc001vkw.1 - 5 913 c.854G>A c.(853-855)aGt>aAt p.S285N BX647243_uc001vku.1_Non-coding_Transcript|RNF219_uc010afb.1_Missense_Mutation_p.S95N NM_024546 NP_078822 Q5W0B1 RN219_HUMAN Homo sapiens ring finger protein 219 (RNF219), mRNA. 285 zinc ion binding breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|liver(1)|lung(11)|prostate(1)|skin(1) 32 Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848) GBM - Glioblastoma multiforme(99;0.0414) ATCCTCCTCACTGCCTTTGCT 0.483000 68 10 0 0 0.006214 0 0 TLR4 7099 broad.mit.edu 37 9 120475079 120475079 + Missense_Mutation SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr9:120475079G>A uc004bjz.3 + 2 964 c.673G>A c.(673-675)Gaa>Aaa p.E225K TLR4_uc004bkb.3_Missense_Mutation_p.E25K|TLR4_uc004bka.3_Missense_Mutation_p.E185K NM_138554 NP_612564 O00206 TLR4_HUMAN Homo sapiens toll-like receptor 4 (TLR4), transcript variant 1, mRNA. 225 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 TGCATTTAAAGAAATTAGGCT 0.373000 48 12 0 0 0.010729 0 0 PTCHD2 57540 broad.mit.edu 37 1 11561654 11561654 + Missense_Mutation SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr1:11561654G>A uc001ash.4 + 1 743 c.605G>A c.(604-606)cGa>cAa p.R202Q PTCHD2_uc001asi.1_Missense_Mutation_p.R202Q NM_020780 NP_065831 Q9P2K9 PTHD2_HUMAN Homo sapiens patched domain containing 2 (PTCHD2), mRNA. 202 cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway endoplasmic reticulum|integral to membrane|nuclear membrane hedgehog receptor activity NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 76 Ovarian(185;0.249) Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549) CGGAGCGGGCGACTTCGGCGT 0.687000 25 8 0 0 0.004482 0 0 CRB1 23418 broad.mit.edu 37 1 197396670 197396670 + Missense_Mutation SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr1:197396670C>T uc001gtz.3 + 6 2424 c.2215C>T c.(2215-2217)Ctc>Ttc p.L739F CRB1_uc010poz.2_Missense_Mutation_p.L670F|CRB1_uc009wza.3_Missense_Mutation_p.L627F|CRB1_uc010ppa.2_Non-coding_Transcript|CRB1_uc010ppb.2_Intron|CRB1_uc010ppc.1_Non-coding_Transcript|CRB1_uc010ppd.2_Missense_Mutation_p.L220F|CRB1_uc001gub.1_Missense_Mutation_p.L388F NM_201253 NP_957705 P82279 CRUM1_HUMAN Homo sapiens crumbs homolog 1 (Drosophila) (CRB1), transcript variant 1, mRNA. 739 Laminin G-like 2. cell-cell signaling|establishment or maintenance of cell polarity apical plasma membrane|extracellular region|integral to membrane calcium ion binding|protein binding NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2) 132 CACCATCAGCCTCTCCATGTT 0.463000 38 8 0 0 0.003080 0 0 SLC52A1 55065 broad.mit.edu 37 17 4936832 4936832 + Missense_Mutation SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr17:4936832C>T uc002gap.4 - 2 1665 c.952G>A c.(952-954)Gtg>Atg p.V318M SLC52A1_uc002gao.4_Missense_Mutation_p.V318M|SLC52A1_uc010ckw.3_Missense_Mutation_p.V196M|SLC52A1_uc010ckx.3_Missense_Mutation_p.V318M NM_001104577 NP_060456 Q9NWF4 RFT_HUMAN Homo sapiens G protein-coupled receptor 172B (GPR172B), transcript variant 1, mRNA. 318 integral to plasma membrane receptor activity|riboflavin transporter activity CTGCCCAGCACCACAGCCAGG 0.622000 46 6 0 0 0.001984 0 0 KRT35 3886 broad.mit.edu 37 17 39635247 39635247 + Splice_Site SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr17:39635247C>T uc002hws.3 - 4 755 c.712_splice c.e4-1 p.E238_splice NM_002280 NP_002271 Q92764 KRT35_HUMAN Homo sapiens keratin 35 (KRT35), mRNA. 238 Coil 1B.|Rod. anatomical structure morphogenesis intermediate filament protein binding|structural molecule activity NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 29 Breast(137;0.000286) GAGTTCACTTCCTATAGCACA 0.557000 38 7 0 0 0.001984 0 0 TIPIN 54962 broad.mit.edu 37 15 66633495 66633495 + Silent SNP T A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr15:66633495T>A uc002apr.2 - 6 761 c.675A>T c.(673-675)ctA>ctT p.L225L TIPIN_uc010ujn.1_Silent_p.L124L|TIPIN_uc010ujo.1_Silent_p.L124L NM_017858 NP_060328 Q9BVW5 TIPIN_HUMAN Homo sapiens TIMELESS interacting protein (TIPIN), mRNA. 225 DNA replication checkpoint|cell division|intra-S DNA damage checkpoint|mitosis|positive regulation of cell proliferation|regulation of DNA replication involved in S phase|replication fork protection cytoplasm|nuclear chromatin protein binding autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1) 7 TACCATTTCCTAGGGTCTGAC 0.358000 97 21 0 0 0.002780 0 0 OTOA 146183 broad.mit.edu 37 16 21709189 21709189 + Missense_Mutation SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr16:21709189C>T uc002djh.3 + 8 834 c.833C>T c.(832-834)cCt>cTt p.P278L LOC23117_uc021tel.1_Intron|OTOA_uc010vbj.2_Missense_Mutation_p.P199L NM_144672 NP_653273 Q7RTW8 OTOAN_HUMAN Homo sapiens otoancorin (OTOA), transcript variant 1, mRNA. 278 sensory perception of sound anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1) 46 GBM - Glioblastoma multiforme(48;0.0414) AAAATTAGTCCTATAGAAGTA 0.383000 55 12 0 0 0.001855 0 0 VPS13C 54832 broad.mit.edu 37 15 62209763 62209763 + Nonsense_Mutation SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr15:62209763C>T uc002agz.3 - 59 7923 c.7832G>A c.(7831-7833)tGg>tAg p.W2611* VPS13C_uc002aha.3_Nonsense_Mutation_p.W2568*|VPS13C_uc002ahb.2_Nonsense_Mutation_p.W2611*|VPS13C_uc002ahc.2_Nonsense_Mutation_p.W2568*|VPS13C_uc002ahd.1_5'UTR NM_020821 NP_065872 Q709C8 VP13C_HUMAN Homo sapiens vacuolar protein sorting 13 homolog C (S. cerevisiae) (VPS13C), transcript variant 2A, mRNA. 2611 protein localization NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 117 TTCTTCCTTCCAGGAAATATA 0.413000 55 10 0 0 0.008291 0 0 NBAS 51594 broad.mit.edu 37 2 15448367 15448367 + Silent SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr2:15448367G>A uc002rcc.1 - 39 4796 c.4770C>T c.(4768-4770)ttC>ttT p.F1590F NBAS_uc010exl.1_Silent_p.F662F|NBAS_uc002rcd.1_Non-coding_Transcript NM_015909 NP_056993 A2RRP1 NBAS_HUMAN Homo sapiens neuroblastoma amplified sequence (NBAS), mRNA. 1590 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 ACTTGTCCCTGAAACATGGGG 0.453000 73 25 0 0 0.007291 0 0 PPP2R5B 5526 broad.mit.edu 37 11 64698008 64698008 + Missense_Mutation SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr11:64698008C>T uc001obz.3 + 6 1131 c.838C>T c.(838-840)Cgc>Tgc p.R280C PPP2R5B_uc001oby.3_Missense_Mutation_p.R280C NM_006244 NP_006235 Q15173 2A5B_HUMAN Homo sapiens protein phosphatase 2, regulatory subunit B', beta (PPP2R5B), mRNA. 280 signal transduction cytoplasm|protein phosphatase type 2A complex protein binding|protein phosphatase type 2A regulator activity central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(2) 21 GTTCCTGGTTCGCGTCCTGAT 0.607000 82 18 0 0 0.010504 0 0 MLXIP 22877 broad.mit.edu 37 12 122622109 122622109 + Missense_Mutation SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr12:122622109C>T uc001ubq.3 + 11 2234 c.2126C>T c.(2125-2127)tCc>tTc p.S709F MLXIP_uc001ubt.3_Missense_Mutation_p.S316F NM_014938 NP_055753 Q9HAP2 MLXIP_HUMAN Homo sapiens MLX interacting protein (MLXIP), mRNA. 709 regulation of transcription, DNA-dependent|transcription, DNA-dependent mitochondrial outer membrane|nucleus DNA binding NS(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(7)|ovary(3) 20 all_neural(191;0.0837)|Medulloblastoma(191;0.163) Lung NSC(355;0.0659) OV - Ovarian serous cystadenocarcinoma(86;0.000599)|Epithelial(86;0.00102)|BRCA - Breast invasive adenocarcinoma(302;0.233) TCAGGGAAATCCGACCCCAAA 0.567000 105 18 0 0 0.008871 0 0 MPDZ 8777 broad.mit.edu 37 9 13106996 13106996 + Missense_Mutation SNP T C C TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr9:13106996T>C uc010mhy.3 - 44 6151 c.6094A>G c.(6094-6096)Aaa>Gaa p.K2032E MPDZ_uc003zkx.4_Missense_Mutation_p.K256E|MPDZ_uc003zky.4_Missense_Mutation_p.K595E|MPDZ_uc010mib.3_Missense_Mutation_p.K766E|MPDZ_uc010mhx.3_Missense_Mutation_p.K883E|MPDZ_uc011lmm.2_Missense_Mutation_p.K920E|MPDZ_uc003zkz.4_Missense_Mutation_p.K754E|MPDZ_uc010mhz.3_Missense_Mutation_p.K2028E|MPDZ_uc011lmn.2_Missense_Mutation_p.K1999E|MPDZ_uc003zlb.4_Missense_Mutation_p.K2032E NM_003829 NP_003820 O75970 MPDZ_HUMAN Homo sapiens multiple PDZ domain protein (MPDZ), mRNA. 2061 PDZ 13. interspecies interaction between organisms apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction protein C-terminus binding p.T2032A(1) NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2) 61 GBM - Glioblastoma multiforme(50;2.03e-06) ACAGTGCCTTTTGTCCGTTTA 0.488000 124 31 0 0 0.009535 0 0 IL17RE 132014 broad.mit.edu 37 3 9948439 9948439 + Missense_Mutation SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr3:9948439C>T uc003btu.3 + 5 540 c.536C>T c.(535-537)tCc>tTc p.S179F CIDEC_uc003bto.3_Intron|IL17RE_uc003btv.3_Missense_Mutation_p.S139F|IL17RE_uc011atn.1_Non-coding_Transcript|IL17RE_uc003bty.3_Non-coding_Transcript|IL17RE_uc003btx.3_Missense_Mutation_p.S23F|IL17RE_uc010hcq.3_Missense_Mutation_p.S139F|IL17RE_uc003btw.3_Missense_Mutation_p.S139F NM_153483 NP_705616 Q8NFR9 I17RE_HUMAN Homo sapiens interleukin 17 receptor E (IL17RE), transcript variant 5, mRNA. 139 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) CATCACATTTCCATCCCCTCC 0.532000 104 31 0 0 0.003755 0 0 UBR4 23352 broad.mit.edu 37 1 19494556 19494556 + Silent SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr1:19494556G>A uc001bbi.3 - 27 3868 c.3864C>T c.(3862-3864)ctC>ctT p.L1288L UBR4_uc001bbm.1_Silent_p.L499L NM_020765 NP_065816 Q5T4S7 UBR4_HUMAN Homo sapiens ubiquitin protein ligase E3 component n-recognin 4 (UBR4), mRNA. 1288 interspecies interaction between organisms cytoplasm|cytoskeleton|integral to membrane|nucleus calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6) 171 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256) UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816) CCAGTGAGAGGAGGGTATGCT 0.498000 106 22 0 0 0.014323 0 0 MDN1 23195 broad.mit.edu 37 6 90421914 90421914 + Silent SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr6:90421914G>A uc003pnn.1 - 48 7608 c.7492C>T c.(7492-7494)Ctg>Ttg p.L2498L NM_014611 NP_055426 Q9NU22 MDN1_HUMAN Homo sapiens MDN1, midasin homolog (yeast) (MDN1), mRNA. 2498 protein complex assembly|regulation of protein complex assembly nucleus ATP binding|ATPase activity|unfolded protein binding NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 218 all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246) BRCA - Breast invasive adenocarcinoma(108;0.0193) TTGAATTTCAGGTTCTCAGGG 0.398000 107 32 0 0 0.003755 0 0 ILDR1 286676 broad.mit.edu 37 3 121712802 121712802 + Missense_Mutation SNP G A A rs146027039 TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr3:121712802G>A uc003ees.3 - 6 997 c.794C>T c.(793-795)tCc>tTc p.S265F ILDR1_uc003eeq.3_Missense_Mutation_p.S233F|ILDR1_uc003eer.3_Missense_Mutation_p.S221F|ILDR1_uc010hrg.3_Missense_Mutation_p.S176F NM_001199799 NP_001186728 Q86SU0 ILDR1_HUMAN Homo sapiens immunoglobulin-like domain containing receptor 1 (ILDR1), transcript variant 1, mRNA. 265 cytosol|integral to membrane|plasma membrane receptor activity central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 GBM - Glioblastoma multiforme(114;0.156) CGGGAGGCTGGACGGCAGGGA 0.493000 42 8 0 0 0.004482 0 0 PCDHAC2 56134 broad.mit.edu 37 5 140203659 140203659 + Missense_Mutation SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr5:140203659G>A uc003lhl.2 + 0 2299 c.2299G>A c.(2299-2301)Gac>Aac p.D767N 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.D767N|PCDHAC2_uc003lhj.1_Missense_Mutation_p.D767N NM_018908 NP_061731 Q9Y5I4 PCDC2_HUMAN Homo sapiens protocadherin alpha 5 (PCDHA5), transcript variant 1, mRNA. 805 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) ACCCAAAACAGACCTCATGGC 0.542000 33 8 0 0 0.003080 0 0 AFF2 2334 broad.mit.edu 37 X 148037328 148037328 + Missense_Mutation SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chrX:148037328G>A uc004fcp.3 + 10 2232 c.1753G>A c.(1753-1755)Gaa>Aaa p.E585K AFF2_uc004fcq.3_Missense_Mutation_p.E575K|AFF2_uc004fcr.3_Missense_Mutation_p.E546K|AFF2_uc011mxb.2_Missense_Mutation_p.E550K|AFF2_uc004fcs.3_Missense_Mutation_p.E552K|AFF2_uc011mxc.2_Missense_Mutation_p.E226K NM_002025 NP_002016 P51816 AFF2_HUMAN Homo sapiens AF4/FMR2 family, member 2 (AFF2), transcript variant 1, mRNA. 585 RNA splicing|brain development|mRNA processing|regulation of RNA splicing nuclear speck G-quadruplex RNA binding|protein binding breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 109 Acute lymphoblastic leukemia(192;6.56e-05) TGAACCCAAAGAAAGGCCTCT 0.483000 60 45 0 0 0.009718 0 0 DZIP3 9666 broad.mit.edu 37 3 108363531 108363531 + Silent SNP C A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr3:108363531C>A uc003dxd.3 + 13 2084 c.1662C>A c.(1660-1662)ccC>ccA p.P554P DZIP3_uc003dxf.1_Silent_p.P554P|DZIP3_uc011bhm.2_Silent_p.P5P|DZIP3_uc003dxe.1_Silent_p.P554P|DZIP3_uc003dxg.1_Silent_p.P277P NM_014648 NP_055463 Q86Y13 DZIP3_HUMAN Homo sapiens DAZ interacting protein 3, zinc finger (DZIP3), mRNA. 554 protein polyubiquitination cytoplasm RNA binding|polyubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1) 45 AGGAGAATCCCATTGAGAATA 0.398000 68 16 3.45872e-05 3.76062e-05 0.004007 1 0 LILRA5 353514 broad.mit.edu 37 19 54823417 54823417 + Splice_Site SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr19:54823417C>T uc002qfe.3 - 4 245 c.125_splice c.e4-1 p.G42_splice LILRA5_uc002qff.3_Splice_Site_p.G30_splice|LILRA5_uc010yev.2_Splice_Site_p.G42_splice|LILRA5_uc010yew.2_Splice_Site_p.G30_splice|LILRA5_uc002qfg.1_Splice_Site_p.G42_splice|LILRA5_uc002qfh.1_Splice_Site_p.G30_splice NM_021250 NP_067073 A6NI73 LIRA5_HUMAN Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 5 (LILRA5), transcript variant 1, mRNA. 42 innate immune response extracellular region|integral to membrane receptor activity breast(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 20 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) TGGAGAGGTTCCCTGGAAGGA 0.622000 54 9 0 0 0.008291 0 0 ADAM18 8749 broad.mit.edu 37 8 39468211 39468211 + Missense_Mutation SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr8:39468211C>T uc003xni.3 + 5 563 c.508C>T c.(508-510)Cct>Tct p.P170S ADAM18_uc003xnh.3_Missense_Mutation_p.P170S|ADAM18_uc010lww.3_Intron|ADAM18_uc010lwx.3_Missense_Mutation_p.P170S NM_014237 NP_055052 Q9Y3Q7 ADA18_HUMAN Homo sapiens ADAM metallopeptidase domain 18 (ADAM18), transcript variant 1, mRNA. 170 cell differentiation|multicellular organismal development|proteolysis|spermatogenesis integral to membrane|membrane fraction metalloendopeptidase activity|zinc ion binding p.P170S(4) 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) CTACAAAGTTCCTTTAAACTC 0.323000 33 6 0 0 0.003080 0 0 GRM7 2917 broad.mit.edu 37 3 7620311 7620311 + Missense_Mutation SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr3:7620311G>A uc003bqm.2 + 7 1992 c.1718G>A c.(1717-1719)cGa>cAa p.R573Q GRM7_uc011ata.1_Non-coding_Transcript|GRM7_uc011atb.1_Non-coding_Transcript|GRM7_uc010hcf.2_Non-coding_Transcript|GRM7_uc011atc.1_Non-coding_Transcript|GRM7_uc010hcg.2_Missense_Mutation_p.R573Q|GRM7_uc003bql.2_Missense_Mutation_p.R573Q|GRM7_uc003bqn.1_Missense_Mutation_p.R156Q|GRM7_uc010hch.1_Missense_Mutation_p.R84Q NM_000844 NP_000835 Q14831 GRM7_HUMAN Homo sapiens glutamate receptor, metabotropic 7 (GRM7), transcript variant 1, mRNA. 573 negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone PDZ domain binding|adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|serine binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 76 L-Glutamic Acid(DB00142) AATGAAAATCGAACCGGATGC 0.527000 110 17 0 0 0.004990 0 0 FAP 2191 broad.mit.edu 37 2 163044741 163044741 + Silent SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr2:163044741G>A uc002ucd.3 - 19 1960 c.1752C>T c.(1750-1752)ctC>ctT p.L584L FAP_uc010fpc.3_Silent_p.L133L|FAP_uc010zct.2_Silent_p.L559L NM_004460 NP_004451 Q12884 SEPR_HUMAN Homo sapiens fibroblast activation protein, alpha (FAP), mRNA. 584 endothelial cell migration|negative regulation of extracellular matrix disassembly|proteolysis cell junction|integral to membrane|invadopodium membrane|lamellipodium membrane dipeptidyl-peptidase activity|metalloendopeptidase activity|protein homodimerization activity|serine-type endopeptidase activity NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(34)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(4) 63 CTGCATAGAGGAGTTTGTCAC 0.438000 72 17 0 0 0.004990 0 0 NCKAP5 344148 broad.mit.edu 37 2 133538682 133538682 + Silent SNP T C C TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr2:133538682T>C uc002ttp.3 - 14 5366 c.4992A>G c.(4990-4992)ggA>ggG p.G1664G NCKAP5_uc002ttq.3_Intron NM_207363 NP_997246 O14513 NCKP5_HUMAN Homo sapiens NCK-associated protein 5 (NCKAP5), transcript variant 1, mRNA. 1664 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 TCTTGTGGTTTCCTTGAGTAC 0.453000 23 6 0 0 0.001984 0 0 IL1RL1 9173 broad.mit.edu 37 2 102968276 102968276 + Silent SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr2:102968276C>T uc002tbu.1 + 10 1837 c.1566C>T c.(1564-1566)tcC>tcT p.S522S IL18R1_uc002tbw.4_Intron NM_016232 NP_057316 Q01638 ILRL1_HUMAN Homo sapiens interleukin 1 receptor-like 1 (IL1RL1), transcript variant 1, mRNA. 522 TIR. 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 ATAAAAGGTCCCTGAATTCTA 0.512000 54 7 0 0 0.001984 0 0 GGCX 2677 broad.mit.edu 37 2 85788065 85788065 + Silent SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr2:85788065C>T uc002sps.3 - 1 193 c.87G>A c.(85-87)agG>agA p.R29R GGCX_uc010yss.2_5'Flank|GGCX_uc010yst.2_Intron NM_000821 NP_000812 P38435 VKGC_HUMAN Homo sapiens gamma-glutamyl carboxylase (GGCX), transcript variant 1, mRNA. 29 blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification endoplasmic reticulum membrane|integral to membrane|membrane fraction gamma-glutamyl carboxylase activity endometrium(3)|large_intestine(5)|lung(3)|ovary(1)|stomach(1)|urinary_tract(2) 15 Anisindione(DB01125)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Drotrecogin alfa(DB00055)|L-Glutamic Acid(DB00142)|Menadione(DB00170)|Phytonadione(DB01022) GGCTGTCCTGCCTGGGCCCTG 0.507000 212 14 0 0 0.004007 0 0 COL24A1 255631 broad.mit.edu 37 1 86289269 86289269 + Missense_Mutation SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b 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 54 11 0 0 0.013537 0 0 USP32 84669 broad.mit.edu 37 17 58284461 58284461 + Silent SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr17:58284461G>A uc002iyo.1 - 24 3244 c.2958C>T c.(2956-2958)ctC>ctT p.L986L USP32_uc002iyn.1_Silent_p.L656L NM_032582 NP_115971 Q8NFA0 UBP32_HUMAN Homo sapiens ubiquitin specific peptidase 32 (USP32), mRNA. 986 protein deubiquitination|ubiquitin-dependent protein catabolic process Golgi apparatus|membrane calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1) 62 all_neural(34;0.0878)|Medulloblastoma(34;0.0922) Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198) CACTCACTGAGAGTCGTACTT 0.408000 17 6 0 0 0.004482 0 0 APOBR 55911 broad.mit.edu 37 16 28508738 28508738 + Silent SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr16:28508738G>A uc002dqb.2 + 1 2409 c.2376G>A c.(2374-2376)tcG>tcA p.S792S NPIPL1_uc010vct.2_Intron|APOBR_uc010byg.2_Silent_p.S321S NM_018690 NP_061160 Q0VD83 APOBR_HUMAN Homo sapiens apolipoprotein B receptor (APOBR), mRNA. 783 Glu-rich. cholesterol metabolic process|lipid transport chylomicron|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|skin(2)|stomach(1) 29 GCTGGGACTCGAAAGAAAAGG 0.592000 22 6 0 0 0.001984 0 0 PNMA2 10687 broad.mit.edu 37 8 26365392 26365392 + Missense_Mutation SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr8:26365392G>A uc022atc.1 - 0 880 c.880C>T c.(880-882)Cgc>Tgc p.R294C PNMA2_uc003xez.2_Missense_Mutation_p.R294C NM_007257 NP_009188 Q9UL42 PNMA2_HUMAN Homo sapiens paraneoplastic antigen MA2 (PNMA2), mRNA. 294 apoptosis nucleolus protein binding NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3) 11 all_cancers(63;0.109)|Ovarian(32;2.61e-05)|all_epithelial(46;0.105) UCEC - Uterine corpus endometrioid carcinoma (27;0.0196)|Epithelial(17;3.13e-11)|Colorectal(74;0.123) tgctccaggcggacctggtcc 0.622000 34 6 0 0 0.001168 0 0 C4orf51 646603 broad.mit.edu 37 4 146653646 146653646 + Silent SNP T C C TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr4:146653646T>C uc003ikk.3 + 5 543 c.543T>C c.(541-543)tcT>tcC p.S181S NM_001080531 NP_001074000 C9J302 CD051_HUMAN Homo sapiens chromosome 4 open reading frame 51 (C4orf51), mRNA. 181 haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4) 6 TTTGCTCATCTGAGGATTCAG 0.502000 22 8 0 0 0.004482 0 0 NWD1 284434 broad.mit.edu 37 19 16902353 16902353 + Missense_Mutation SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr19:16902353G>A uc002neu.4 + 13 3555 c.3133G>A c.(3133-3135)Gaa>Aaa p.E1045K NWD1_uc002net.4_Missense_Mutation_p.E910K|NWD1_uc002nev.4_Missense_Mutation_p.E839K|NWD1_uc021uqg.1_Missense_Mutation_p.E910K NM_001007525 NP_001007526 Q149M9 NWD1_HUMAN Homo sapiens NACHT and WD repeat domain containing 1 (NWD1), mRNA. 1045 ATP binding p.R1044R(2) 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 CAGCATCAAAGAAGAAACACC 0.507000 67 11 0 0 0.008291 0 0 ZC3HC1 51530 broad.mit.edu 37 7 129691111 129691111 + Silent SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr7:129691111G>A uc003vpi.3 - 0 123 c.96C>T c.(94-96)atC>atT p.I32I NM_016478 NP_057562 Q86WB0 NIPA_HUMAN Homo sapiens zinc finger, C3HC-type containing 1 (ZC3HC1), mRNA. 32 cell division|mitosis nucleus protein kinase binding|zinc ion binding endometrium(2)|kidney(6)|large_intestine(10)|lung(2)|prostate(1)|urinary_tract(1) 22 Melanoma(18;0.0435) TCAGCTGCCGGATTTTCTGGG 0.592000 68 13 0 0 0.001855 0 0 TRPM2 7226 broad.mit.edu 37 21 45817680 45817680 + Silent SNP A G G TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr21:45817680A>G uc010gpt.1 + 12 2083 c.1983A>G c.(1981-1983)gaA>gaG p.E661E TRPM2_uc002zet.1_Silent_p.E661E|TRPM2_uc002zeu.1_Silent_p.E661E|TRPM2_uc021wjr.1_Non-coding_Transcript|TRPM2_uc002zew.1_Silent_p.E661E|TRPM2_uc002zex.1_Silent_p.E447E|TRPM2_uc002zey.1_Silent_p.E174E NM_003307 NP_003298 O94759 TRPM2_HUMAN Homo sapiens transient receptor potential cation channel, subfamily M, member 2 (TRPM2), transcript variant 1, mRNA. 661 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 TCCTGAAGGAACTGTCCAAGG 0.637000 31 5 0 0 0.000602 0 0 CLEC5A 23601 broad.mit.edu 37 7 141635657 141635657 + Missense_Mutation SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr7:141635657C>T uc003vwv.1 - 4 499 c.302G>A c.(301-303)gGa>gAa p.G101E CLEC5A_uc011krm.1_Missense_Mutation_p.G78E|CLEC5A_uc003vww.1_Missense_Mutation_p.G101E|CLEC5A_uc010lnq.1_Missense_Mutation_p.G78E|CLEC5A_uc010lnr.1_Intron NM_013252 NP_037384 Q9NY25 CLC5A_HUMAN Homo sapiens C-type lectin domain family 5, member A (CLEC5A), mRNA. 101 C-type lectin. anti-apoptosis|cellular defense response|innate immune response|interspecies interaction between organisms|osteoblast development cell surface|integral to plasma membrane sugar binding|viral receptor activity endometrium(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1) 10 Melanoma(164;0.0171) GGATCCTTTTCCTTTGCAAAA 0.443000 74 14 0 0 0.001855 0 0 NPC1L1 29881 broad.mit.edu 37 7 44578788 44578788 + Missense_Mutation SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr7:44578788G>A uc003tlb.3 - 1 1264 c.1208C>T c.(1207-1209)cCc>cTc p.P403L NPC1L1_uc011kbw.2_Missense_Mutation_p.P403L|NPC1L1_uc003tlc.3_Missense_Mutation_p.P403L|NPC1L1_uc003tld.3_Missense_Mutation_p.P403L NM_013389 NP_037521 Q9UHC9 NPCL1_HUMAN Homo sapiens NPC1 (Niemann-Pick disease, type C1, gene)-like 1 (NPC1L1), transcript variant 1, mRNA. 403 cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane hedgehog receptor activity|protein binding p.G402A(1) breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 57 Ezetimibe(DB00973) TCGGAAGAAGGGGCCGAAATG 0.582000 121 19 0 0 0.010504 0 0 ZNF878 729747 broad.mit.edu 37 19 12155515 12155515 + Missense_Mutation SNP T A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr19:12155515T>A uc021upl.1 - 3 867 c.701A>T c.(700-702)aAa>aTa p.K234I ZNF878_uc002mta.1_Missense_Mutation_p.K281I NM_001080404 NP_001073873 C9JN71 ZN878_HUMAN Homo sapiens zinc finger protein 878 (ZNF878), mRNA. 234 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1) 8 AAAAAAGGCTTTCCCACATAT 0.398000 54 13 0 0 0.002450 0 0 PCDHAC2 56134 broad.mit.edu 37 5 140222932 140222932 + Missense_Mutation SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr5:140222932C>T uc003lhs.2 + 0 2026 c.2026C>T c.(2026-2028)Cca>Tca p.P676S 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_uc003lhr.1_Missense_Mutation_p.P676S NM_018911 NP_061734 Q9Y5I4 PCDC2_HUMAN Homo sapiens protocadherin alpha 8 (PCDHA8), transcript variant 1, mRNA. 685 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) CGGCCAGGCTCCAAAAGCGTC 0.637000 71 21 0 0 0.010504 0 0 OR56A5 390084 broad.mit.edu 37 11 5989503 5989503 + Silent SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr11:5989503G>A uc010qzu.2 - 0 222 c.222C>T c.(220-222)atC>atT p.I74I NM_001146033 NP_001139505 P0C7T3 O56A5_HUMAN Homo sapiens olfactory receptor, family 56, subfamily A, member 5 (OR56A5), mRNA. 74 integral to membrane|plasma membrane olfactory receptor activity GGCAGAGTACGATGTCCAGCA 0.562000 35 17 0 0 0.007413 0 0 RNF17 56163 broad.mit.edu 37 13 25370412 25370412 + Missense_Mutation SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr13:25370412C>T uc001upr.3 + 10 1419 c.1378C>T c.(1378-1380)Cct>Tct p.P460S RNF17_uc010tdd.1_Missense_Mutation_p.P319S|RNF17_uc010tde.2_Missense_Mutation_p.P460S|RNF17_uc010aab.3_Non-coding_Transcript|RNF17_uc001ups.3_Missense_Mutation_p.P399S|RNF17_uc001upq.1_3'UTR NM_031277 NP_112567 Q9BXT8 RNF17_HUMAN Homo sapiens ring finger protein 17 (RNF17), transcript variant 1, mRNA. 460 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) ACACCTTGATCCTTCAGACAT 0.328000 62 16 0 0 0.003163 0 0 TRHDE 29953 broad.mit.edu 37 12 73046155 73046155 + Missense_Mutation SNP A C C TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr12:73046155A>C uc001sxa.3 + 15 2624 c.2594A>C c.(2593-2595)gAt>gCt p.D865A NM_013381 NP_037513 Q9UKU6 TRHDE_HUMAN Homo sapiens thyrotropin-releasing hormone degrading enzyme (TRHDE), mRNA. 865 cell-cell signaling|proteolysis|signal transduction integral to plasma membrane aminopeptidase activity|metallopeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 79 TCACTACTGGATGAGGATGTC 0.383000 60 8 0 0 0.003080 0 0 CCDC42 146849 broad.mit.edu 37 17 8647889 8647889 + Silent SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr17:8647889C>T uc002gln.3 - 0 266 c.39G>A c.(37-39)gaG>gaA p.E13E CCDC42_uc002glo.3_Silent_p.E13E NM_144681 NP_653282 Q96M95 CCD42_HUMAN Homo sapiens coiled-coil domain containing 42 (CCDC42), transcript variant 1, mRNA. 13 kidney(1)|large_intestine(4)|lung(3)|ovary(1) 9 GCCGGAAGTACTCGGCCAGGT 0.607000 50 8 0 0 0.004482 0 0 MGAT2 4247 broad.mit.edu 37 14 50089057 50089057 + Silent SNP T C C TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr14:50089057T>C uc001wwr.3 + 0 1569 c.1071T>C c.(1069-1071)tgT>tgC p.C357C NEMF_uc010anj.1_Intron|RPL36AL_uc001wwq.1_5'Flank NM_002408 NP_002399 Q10469 MGAT2_HUMAN Homo sapiens mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase (MGAT2), mRNA. 357 oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|Golgi stack|integral to membrane|membrane fraction alpha-1,6-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity cervix(1)|endometrium(3)|large_intestine(1)|lung(6) 11 all_epithelial(31;0.0021)|Breast(41;0.0124) CTGTATCTTGTCTTCCAAAAT 0.433000 84 15 0 0 0.004007 0 0 AGL 178 broad.mit.edu 37 1 100316674 100316674 + Missense_Mutation SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr1:100316674G>A uc001dsi.1 + 1 476 c.76G>A c.(76-78)Gaa>Aaa p.E26K AGL_uc001dsj.1_Missense_Mutation_p.E26K|AGL_uc001dsk.1_Missense_Mutation_p.E26K|AGL_uc001dsl.1_Missense_Mutation_p.E26K|AGL_uc001dsm.1_5'UTR NM_000642 NP_000635 P35573 GDE_HUMAN Homo sapiens amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase (AGL), transcript variant 1, mRNA. 26 glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process cytosol|isoamylase complex|nucleus 4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1) 69 all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131) Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237) CTTCAGACTTGAACAAGGTCA 0.348000 51 11 0 0 0.001855 0 0 VPS13B 157680 broad.mit.edu 37 8 100831746 100831746 + Nonsense_Mutation SNP G T T rs143787982 TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr8:100831746G>T uc003yiv.3 + 47 8914 c.8803G>T c.(8803-8805)Gaa>Taa p.E2935* VPS13B_uc003yiw.3_Nonsense_Mutation_p.E2910* NM_017890 NP_060360 Q7Z7G8 VP13B_HUMAN Homo sapiens vacuolar protein sorting 13 homolog B (yeast) (VPS13B), transcript variant 5, mRNA. 2935 protein transport NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9) 193 Breast(36;3.73e-07) OV - Ovarian serous cystadenocarcinoma(57;0.00636) GATCCTTGACGAATTCTATGG 0.398000 45 12 1.61879e-10 1.77186e-10 0.013537 1 0 NDEL1 81565 broad.mit.edu 37 17 8347657 8347657 + Missense_Mutation SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr17:8347657C>T uc002glj.3 + 1 265 c.68C>T c.(67-69)tCc>tTc p.S23F NDEL1_uc002gli.3_Missense_Mutation_p.S23F NM_030808 NP_110435 Q9GZM8 NDEL1_HUMAN Homo sapiens nudE nuclear distribution gene E homolog (A. nidulans)-like 1 (NDEL1), transcript variant 2, mRNA. 23 chromosome segregation|mitotic prometaphase condensed chromosome kinetochore|cytosol|microtubule|spindle large_intestine(6)|lung(4)|skin(3) 13 AAGGAACTTTCCTTGAAGTAT 0.353000 32 10 0 0 0.006214 0 0 EXOSC5 56915 broad.mit.edu 37 19 41893466 41893466 + Missense_Mutation SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr19:41893466G>A uc002oqo.3 - 4 591 c.568C>T c.(568-570)Cgg>Tgg p.R190W BCKDHA_uc002oqm.4_Intron NM_020158 NP_064543 Q9NQT4 EXOS5_HUMAN Homo sapiens exosome component 5 (EXOSC5), mRNA. 190 DNA deamination|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA processing cytosol|exosome (RNase complex)|nucleolus|transcriptionally active chromatin 3'-5'-exoribonuclease activity|RNA binding|protein binding endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|urinary_tract(1) 7 AGCAGCTTCCGTTCCACGCTG 0.582000 13 6 0 0 0.003080 0 0 TTN 7273 broad.mit.edu 37 2 179584176 179584176 + Missense_Mutation SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr2:179584176G>A uc021vsy.1 - 79 20434 c.20209C>T c.(20209-20211)Cgg>Tgg p.R6737W TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.R3398W NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 7664 Ig-like 49. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GGCACAATCCGATCTATGTGG 0.478000 65 10 0 0 0.008291 0 0 FKBP8 23770 broad.mit.edu 37 19 18649187 18649187 + Missense_Mutation SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr19:18649187G>A uc002njk.1 - 4 721 c.608C>T c.(607-609)gCt>gTt p.A203V FKBP8_uc010xqi.1_Missense_Mutation_p.A232V|FKBP8_uc002njj.1_Missense_Mutation_p.A204V|FKBP8_uc021uqp.1_Intron NM_012181 NP_036313 Q14318 FKBP8_HUMAN Homo sapiens FK506 binding protein 8, 38kDa (FKBP8), mRNA. 203 PPIase FKBP-type. apoptosis|interspecies interaction between organisms|intracellular signal transduction|protein folding integral to endoplasmic reticulum membrane|mitochondrial membrane FK506 binding|peptidyl-prolyl cis-trans isomerase activity|protein binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1) 15 CCCGTCCACAGCCGTCTTCAG 0.701000 37 7 0 0 0.001984 0 0 PDE1C 5137 broad.mit.edu 37 7 31918645 31918645 + Missense_Mutation SNP A G G TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr7:31918645A>G uc003tcm.2 - 3 850 c.389T>C c.(388-390)aTc>aCc p.I130T PDE1C_uc003tcn.1_Missense_Mutation_p.I130T|PDE1C_uc003tco.2_Missense_Mutation_p.I190T|PDE1C_uc003tcr.3_Missense_Mutation_p.I130T|PDE1C_uc003tcs.3_Missense_Mutation_p.I130T NM_001191057 NP_001177988 Q14123 PDE1C_HUMAN Homo sapiens phosphodiesterase 1C, calmodulin-dependent 70kDa (PDE1C), transcript variant 2, mRNA. 130 activation of phospholipase C activity|nerve growth factor receptor signaling pathway cytosol calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 81 GBM - Glioblastoma multiforme(11;0.216) TGCGTGAACGATGCTCTTGAA 0.527000 104 24 0 0 0.003954 0 0 PLEKHG6 55200 broad.mit.edu 37 12 6426484 6426484 + Missense_Mutation SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr12:6426484C>T uc001qnr.3 + 7 920 c.772C>T c.(772-774)Cac>Tac p.H258Y PLEKHG6_uc001qns.3_Missense_Mutation_p.H258Y|PLEKHG6_uc010sew.2_Missense_Mutation_p.H258Y|PLEKHG6_uc010sex.2_Missense_Mutation_p.H226Y NM_018173 NP_060643 Q3KR16 PKHG6_HUMAN Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 6 (PLEKHG6), transcript variant 1, mRNA. 258 DH. regulation of Rho protein signal transduction cleavage furrow|cytoplasm|spindle pole GTPase activator activity|Rho guanyl-nucleotide exchange factor activity autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(4) 23 CCAGCGGTTCCACCCCTATGT 0.587000 47 9 0 0 0.004482 0 0 CYP2C19 1557 broad.mit.edu 37 10 96447961 96447961 + Silent SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr10:96447961G>A uc001kjv.4 + 2 737 c.411G>A c.(409-411)ggG>ggA p.G137G CYP2C19_uc001kjw.4_Silent_p.G137G|CYP2C19_uc009xus.1_Silent_p.G2G|CYP2C19_uc010qny.2_5'UTR NM_000772 NP_000763 P33261 CP2CJ_HUMAN Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 18 (CYP2C18), transcript variant 1, mRNA. 137 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) TTGGGATGGGGAAGAGGAGCA 0.473000 70 12 0 0 0.001855 0 0 SPTBN5 51332 broad.mit.edu 37 15 42147567 42147567 + Missense_Mutation SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr15:42147567C>T uc001zos.3 - 54 9506 c.9173G>A c.(9172-9174)aGg>aAg p.R3058K NM_016642 NP_057726 Q9NRC6 SPTN5_HUMAN Homo sapiens spectrin, beta, non-erythrocytic 5 (SPTBN5), mRNA. 3093 actin cytoskeleton organization|actin filament capping|axon guidance cytosol|membrane|spectrin NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 62 all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173) all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908) GGCCTCCGCCCTCCGCAGCAG 0.692000 41 7 0 0 0.003080 0 0 FAM160A2 84067 broad.mit.edu 37 11 6239944 6239944 + Missense_Mutation SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr11:6239944G>A uc001mck.4 - 7 1680 c.1321C>T c.(1321-1323)Cgt>Tgt p.R441C FAM160A2_uc001mcl.4_Missense_Mutation_p.R441C|FAM160A2_uc001mcm.2_Missense_Mutation_p.R441C NM_032127 NP_115503 Q8N612 F16A2_HUMAN Homo sapiens family with sequence similarity 160, member A2 (FAM160A2), transcript variant 1, mRNA. 441 early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|protein transport FHF complex protein binding NS(1)|endometrium(3)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 TCCACATCACGAACAGCCGGC 0.542000 135 32 0 0 0.013726 0 0 SDHAP1 255812 broad.mit.edu 37 3 195701278 195701278 + Missense_Mutation SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr3:195701278C>T uc011btq.1 - 7 1215 c.586G>A c.(586-588)Gtg>Atg p.V196M SDHAP1_uc003fvx.3_Non-coding_Transcript|SDHAP1_uc011btp.1_Non-coding_Transcript Homo sapiens succinate dehydrogenase complex, subunit A, flavoprotein pseudogene 1 (SDHAP1), non-coding RNA. CAGGCCTGCACGACTCTGCGA 0.537000 35 8 0 0 0.001855 0 0 ALOX15B 247 broad.mit.edu 37 17 7942489 7942489 + Missense_Mutation SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr17:7942489G>A uc002gju.3 + 0 132 c.16G>A c.(16-18)Gtc>Atc p.V6I ALOX15B_uc002gjv.3_Missense_Mutation_p.V6I|ALOX15B_uc002gjw.3_Missense_Mutation_p.V6I|ALOX15B_uc010vun.2_Missense_Mutation_p.V6I|ALOX15B_uc010cnp.3_5'UTR NM_001141 NP_001132 O15296 LX15B_HUMAN Homo sapiens arachidonate 15-lipoxygenase, type B (ALOX15B), transcript variant d, mRNA. 6 PLAT. induction of apoptosis|leukotriene biosynthetic process|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of growth|prostate gland development|regulation of epithelial cell differentiation cytoplasm arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(1) 24 CGAGTTCAGGGTCAGGGTGTC 0.667000 61 11 0 0 0.010729 0 0 PLA2G3 50487 broad.mit.edu 37 22 31536283 31536284 + Missense_Mutation DNP CC TT TT TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr22:31536283_31536284CC>TT uc003aka.3 - 0 186_187 c.57_58GG>AA c.(55-60)gggggc>ggAAgc p.G20S NM_015715 NP_056530 Q9NZ20 PA2G3_HUMAN Homo sapiens phospholipase A2, group III (PLA2G3), mRNA. 20 cilium morphogenesis|lipid catabolic process|phospholipid metabolic process centriole|extracellular space|plasma membrane calcium ion binding|calcium-dependent phospholipase A2 activity large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1) 18 GCAGGGGAGCCCCCCAGGGCCA 0.653000 61 10 0 0 0.004672 0 0 PLEKHM3 389072 broad.mit.edu 37 2 208693150 208693150 + Missense_Mutation SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr2:208693150G>A uc002vcl.2 - 7 2669 c.2179C>T c.(2179-2181)Cgc>Tgc p.R727C NM_001080475 NP_001073944 Q6ZWE6 PKHM3_HUMAN Homo sapiens pleckstrin homology domain containing, family M, member 3 (PLEKHM3), mRNA. 727 intracellular signal transduction metal ion binding central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 AGCTCTCGGCGAACACACCTC 0.507000 58 10 0 0 0.008291 0 0 CYP2C19 1557 broad.mit.edu 37 10 96609707 96609707 + Silent SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr10:96609707C>T uc010qnz.2 + 7 1183 c.1183C>T c.(1183-1185)Cta>Tta p.L395L CYP2C19_uc010qny.2_Silent_p.L373L NM_000769 NP_000760 P33261 CP2CJ_HUMAN Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 19 (CYP2C19), mRNA. 395 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) CACTTCTGTGCTACATGACAA 0.398000 86 19 0 0 0.007413 0 0 MUC16 94025 broad.mit.edu 37 19 9058282 9058282 + Missense_Mutation SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr19:9058282C>T uc002mkp.3 - 2 29368 c.29164G>A c.(29164-29166)Gaa>Aaa p.E9722K NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 9724 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 CTAGTTGTTTCCACAAAGCGA 0.488000 23 4 0 0 0.009096 0 0 NRAS 4893 broad.mit.edu 37 1 115256529 115256529 + Missense_Mutation SNP T C C rs11554290 TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr1:115256529T>C uc009wgu.3 - 2 436 c.182A>G c.(181-183)cAa>cGa p.Q61R NM_002524 NP_002515 P01111 RASN_HUMAN Homo sapiens neuroblastoma RAS viral (v-ras) oncogene homolog (NRAS), mRNA. 61 Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290). Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway Golgi membrane|plasma membrane GTP binding|GTPase activity p.Q61R(1713)|p.Q61K(635)|p.Q61L(370)|p.Q61H(123)|p.Q61P(46)|p.Q61E(9)|p.G60E(6)|p.Q61?(5)|p.Q61Q(3)|p.G60R(1)|p.G60>?(1)|p.Q61*(1)|p.Q61_E62>HK(1) NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13) 3085 all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211) all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) GTACTCTTCTTGTCCAGCTGT 0.458000 Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID) 50 Mis """melanoma, MM, AML, thyroid""" Noonan syndrome TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6) 103 34 0 0 0.012213 0 0 ABCA13 154664 broad.mit.edu 37 7 48411914 48411914 + Silent SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr7:48411914C>T uc003toq.2 + 32 10977 c.10953C>T c.(10951-10953)ttC>ttT p.F3651F ABCA13_uc010kys.1_Silent_p.F725F|ABCA13_uc003tos.1_Silent_p.F477F NM_152701 NP_689914 Q86UQ4 ABCAD_HUMAN Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 13 (ABCA13), mRNA. 3651 transport integral to membrane ATP binding|ATPase activity breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 270 TTATTGTTTTCCTCTTTCTCT 0.468000 133 30 0 0 0.013726 0 0 SERPINB3 6317 broad.mit.edu 37 18 61310397 61310397 + Missense_Mutation SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr18:61310397G>A uc002ljf.3 - 2 306 c.220C>T c.(220-222)Cat>Tat p.H74Y SERPINB3_uc002lje.3_Missense_Mutation_p.H74Y|SERPINB3_uc002ljg.3_Intron NM_002974 NP_002965 P29508 SPB3_HUMAN Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 4 (SERPINB4), mRNA. 74 regulation of proteolysis cytoplasm|extracellular region protein binding|serine-type endopeptidase inhibitor activity p.Y73C(1) breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2) 36 TGACTCACATGATATGTTGCA 0.408000 25 6 0 0 0.001984 0 0 ST6GAL2 84620 broad.mit.edu 37 2 107460392 107460392 + Silent SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr2:107460392G>A uc002tdq.3 - 1 161 c.42C>T c.(40-42)ttC>ttT p.F14F ST6GAL2_uc002tdr.3_Silent_p.F14F|ST6GAL2_uc002tds.3_Silent_p.F14F NM_001142351 NP_115917 Q96JF0 SIAT2_HUMAN Homo sapiens ST6 beta-galactosamide alpha-2,6-sialyltranferase 2 (ST6GAL2), transcript variant 2, mRNA. 14 growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation Golgi cisterna membrane|integral to Golgi membrane beta-galactoside alpha-2,6-sialyltransferase activity autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 65 CGAATATTCCGAAAAGCATTC 0.512000 53 12 0 0 0.001855 0 0 HYDIN 54768 broad.mit.edu 37 16 71212863 71212863 + Missense_Mutation SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr16:71212863C>T uc002ezr.3 - 3 500 c.349G>A c.(349-351)Gaa>Aaa p.E117K HYDIN_uc010cfz.2_5'UTR|HYDIN_uc021tkq.1_Missense_Mutation_p.E117K|HYDIN_uc010vmc.2_Missense_Mutation_p.E134K|HYDIN_uc010vmd.2_Missense_Mutation_p.E144K|HYDIN_uc002ezw.4_Missense_Mutation_p.E134K NM_032821 NP_116210 Q4G0P3 HYDIN_HUMAN Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA. 117 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) AGTGGAACTTCATAGACTTCA 0.393000 105 25 0 0 0.004656 0 0 FAT2 2196 broad.mit.edu 37 5 150887168 150887168 + Missense_Mutation SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr5:150887168C>T uc003lue.4 - 21 12077 c.12064G>A c.(12064-12066)Gaa>Aaa p.E4022K FAT2_uc003lud.4_Missense_Mutation_p.E629K NM_001447 NP_001438 Q9NYQ8 FAT2_HUMAN Homo sapiens FAT tumor suppressor homolog 2 (Drosophila) (FAT2), mRNA. 4022 EGF-like 2. 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) GCCTCCATTTCACACCTGCGG 0.552000 16 7 0 0 0.003080 0 0 DSG3 1830 broad.mit.edu 37 18 29046576 29046577 + Missense_Mutation DNP AA GC GC TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr18:29046576_29046577AA>GC uc002kws.3 + 10 1604_1605 c.1495_1496AA>GC c.(1495-1497)aaa>GCa p.K499A NM_001944 NP_001935 P32926 DSG3_HUMAN Homo sapiens desmoglein 3 (DSG3), mRNA. 499 Cadherin 4. cellular component disassembly involved in apoptosis|homophilic cell adhesion cytosol|desmosome|integral to membrane calcium ion binding breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1) 62 OV - Ovarian serous cystadenocarcinoma(10;0.00504) TGTCCTCGAAAAAGATGCAGTT 0.421000 98 25 0 0 0.004672 0 0 PLEKHA6 22874 broad.mit.edu 37 1 204226886 204226886 + Silent SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr1:204226886G>A uc001hau.3 - 8 1436 c.1119C>T c.(1117-1119)agC>agT p.S373S PLEKHA6_uc009xaw.1_5'UTR|PLEKHA6_uc009xax.1_5'UTR|PLEKHA6_uc009xay.1_5'UTR|PLEKHA6_uc009xaz.1_5'UTR|PLEKHA6_uc009xba.1_5'UTR|PLEKHA6_uc009xbb.1_5'UTR|PLEKHA6_uc009xbc.1_5'UTR NM_014935 NP_055750 Q9Y2H5 PKHA6_HUMAN Homo sapiens pleckstrin homology domain containing, family A member 6 (PLEKHA6), mRNA. 373 Pro-rich. breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 53 all_cancers(21;0.0222)|Breast(84;0.179) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229) TGGAACAGATGCTCTCCGGCC 0.627000 24 7 0 0 0.001984 0 0 SOX5 6660 broad.mit.edu 37 12 23893968 23893968 + Missense_Mutation SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr12:23893968G>A uc001rfw.3 - 4 676 c.574C>T c.(574-576)Ccc>Tcc p.P192S SOX5_uc001rfx.3_Missense_Mutation_p.P179S|SOX5_uc001rfy.3_Missense_Mutation_p.P179S|SOX5_uc010siv.2_Missense_Mutation_p.P179S|SOX5_uc010siw.1_Non-coding_Transcript|SOX5_uc001rfz.1_Missense_Mutation_p.P144S NM_006940 NP_694534 P35711 SOX5_HUMAN Homo sapiens SRY (sex determining region Y)-box 5 (SOX5), transcript variant 1, mRNA. 192 transcription from RNA polymerase II promoter nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3) 57 AAGCTCTCGGGAGTCCCTACA 0.418000 35 5 0 0 0.000602 0 0 MGEA5 10724 broad.mit.edu 37 10 103558830 103558830 + Silent SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr10:103558830G>A uc001ktv.2 - 8 2021 c.1578C>T c.(1576-1578)ccC>ccT p.P526P MGEA5_uc001ktu.2_Non-coding_Transcript|MGEA5_uc010qqe.1_Silent_p.P473P|MGEA5_uc009xws.2_Silent_p.P473P|MGEA5_uc001ktw.2_Silent_p.P526P|MGEA5_uc009xwt.2_Silent_p.P289P NM_012215 NP_036347 O60502 NCOAT_HUMAN Homo sapiens meningioma expressed antigen 5 (hyaluronidase) (MGEA5), transcript variant 1, mRNA. 526 glycoprotein catabolic process cytoplasm|nucleus histone acetyltransferase activity|hyalurononglucosaminidase activity central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(2)|skin(1)|urinary_tract(1) 23 Colorectal(252;0.207) Epithelial(162;4.67e-09)|all cancers(201;2.54e-07) CAGTTTGCATGGGGGCAATGT 0.448000 113 28 0 0 0.007291 0 0 FAM83E 54854 broad.mit.edu 37 19 49104458 49104458 + Missense_Mutation SNP A T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr19:49104458A>T uc002pjn.2 - 4 1410 c.1345T>A c.(1345-1347)Ttc>Atc p.F449I NM_017708 NP_060178 Q2M2I3 FA83E_HUMAN Homo sapiens family with sequence similarity 83, member E (FAM83E), mRNA. 449 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) TCCCCACCGAACCGCCTTCGG 0.701000 24 6 0 0 0.001984 0 0 SLCO1B1 10599 broad.mit.edu 37 12 21349913 21349913 + Nonsense_Mutation SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr12:21349913G>A uc001req.4 + 7 865 c.761G>A c.(760-762)tGg>tAg p.W254* NM_006446 NP_006437 Q9Y6L6 SO1B1_HUMAN Homo sapiens solute carrier organic anion transporter family, member 1B1 (SLCO1B1), mRNA. 254 bile acid metabolic process|sodium-independent organic anion transport basolateral plasma membrane|integral to plasma membrane|membrane fraction bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity p.R253P(1) 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) GATTCTCGATGGGTTGGAGCT 0.358000 67 15 0 0 0.003163 0 0 ZNF445 353274 broad.mit.edu 37 3 44488387 44488387 + Missense_Mutation SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr3:44488387G>A uc003cnf.2 - 7 3124 c.2776C>T c.(2776-2778)Cgt>Tgt p.R926C ZNF445_uc011azv.1_Missense_Mutation_p.R914C|ZNF445_uc011azw.1_Missense_Mutation_p.R926C NM_181489 NP_852466 P59923 ZN445_HUMAN Homo sapiens zinc finger protein 445 (ZNF445), mRNA. 926 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|skin(3) 31 KIRC - Kidney renal clear cell carcinoma(197;0.0514)|Kidney(197;0.0646) GGCGGGCTACGTTCAGCCTGT 0.498000 80 20 0 0 0.008871 0 0 CUL4A 8451 broad.mit.edu 37 13 113909011 113909011 + Missense_Mutation SNP A G G TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr13:113909011A>G uc021rmv.1 + 16 1768 c.1757A>G c.(1756-1758)aAg>aGg p.K586R CUL4A_uc021rmu.1_Missense_Mutation_p.K486R|CUL4A_uc010agu.3_Missense_Mutation_p.K447R|CUL4A_uc010tjz.2_Missense_Mutation_p.K265R NM_001008895 NP_003580 Q13619 CUL4A_HUMAN Homo sapiens cullin 4A (CUL4A), transcript variant 1, mRNA. 586 DNA repair|G1/S transition of mitotic cell cycle|cell cycle arrest|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process Cul4A-RING ubiquitin ligase complex ubiquitin protein ligase binding NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|skin(1) 17 Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.0482)|all_epithelial(44;0.0148)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188) all cancers(43;0.112) TTCCAGGGGAAGAAGGAATTC 0.438000 100 15 0 0 0.004990 0 0 FRAS1 80144 broad.mit.edu 37 4 79440574 79440574 + Silent SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr4:79440574C>T uc003hlb.2 + 66 10919 c.10479C>T c.(10477-10479)tcC>tcT p.S3493S NM_025074 NP_079350 Q86XX4 FRAS1_HUMAN Homo sapiens Fraser syndrome 1 (FRAS1), transcript variant 1, mRNA. 3488 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 GCTGGGCCTCCTTGGAGCACC 0.532000 183 43 0 0 0.008740 0 0 CD96 10225 broad.mit.edu 37 3 111319612 111319612 + Missense_Mutation SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr3:111319612G>A uc003dxw.3 + 7 1156 c.986G>A c.(985-987)gGa>gAa p.G329E CD96_uc003dxv.3_Missense_Mutation_p.G313E|CD96_uc003dxx.3_Missense_Mutation_p.G313E|CD96_uc010hpy.1_Missense_Mutation_p.G313E NM_198196 NP_937839 P40200 TACT_HUMAN Homo sapiens CD96 molecule (CD96), transcript variant 1, mRNA. 329 Ig-like C2-type. cell adhesion|immune response|regulation of immune response integral to plasma membrane central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(4)|liver(2)|lung(14)|skin(5) 35 GGCAAAGATGGATTTTTGGAA 0.373000 Opitz Trigonocephaly syndrome 39 7 0 0 0.004482 0 0 PCLO 27445 broad.mit.edu 37 7 82585599 82585599 + Missense_Mutation SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr7:82585599C>T uc003uhx.2 - 4 4959 c.4670G>A c.(4669-4671)cGa>cAa p.R1557Q PCLO_uc003uhv.2_Missense_Mutation_p.R1557Q NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA. 1488 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 GATTTGTTTTCGAATGAAGTC 0.418000 72 14 0 0 0.004990 0 0 TNFSF11 8600 broad.mit.edu 37 13 43180898 43180898 + Silent SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr13:43180898G>A uc001uyu.2 + 4 947 c.798G>A c.(796-798)ggG>ggA p.G266G TNFSF11_uc001uyt.2_Silent_p.G193G NM_003701 NP_143026 O14788 TNF11_HUMAN Homo sapiens tumor necrosis factor (ligand) superfamily, member 11 (TNFSF11), transcript variant 1, mRNA. 266 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 p.G266G(2) 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) ATTGGTCAGGGAATTCTGAAT 0.423000 68 12 0 0 0.013537 0 0 OAS3 4940 broad.mit.edu 37 12 113405251 113405251 + Silent SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr12:113405251C>T uc001tug.3 + 12 2805 c.2718C>T c.(2716-2718)agC>agT p.S906S NM_006187 NP_006178 Q9Y6K5 OAS3_HUMAN Homo sapiens 2'-5'-oligoadenylate synthetase 3, 100kDa (OAS3), mRNA. 906 OAS domain 3. interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway microsome ATP binding|RNA binding|nucleotidyltransferase activity breast(3)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|skin(2) 27 CCAGGCCCAGCTCTCAAGTCT 0.572000 10 3 0 0 0.004672 0 0 SKIV2L 6499 broad.mit.edu 37 6 31928246 31928246 + Missense_Mutation SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr6:31928246C>T uc003nyn.1 + 4 781 c.392C>T c.(391-393)tCc>tTc p.S131F RDBP_uc003nyk.3_5'Flank|RDBP_uc011dot.2_5'Flank|RDBP_uc021yvb.1_5'Flank|SKIV2L_uc011dou.1_Intron|SKIV2L_uc011dov.1_Intron NM_006929 NP_008860 Q15477 SKIV2_HUMAN Homo sapiens superkiller viralicidic activity 2-like (S. cerevisiae) (SKIV2L), mRNA. 131 nucleus ATP binding|ATP-dependent RNA helicase activity|RNA binding|protein binding breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1) 4 GCTACAACCTCCTTGTCTCTT 0.562000 374 46 0 0 0.014410 0 0 TREML2 79865 broad.mit.edu 37 6 41165887 41165887 + Silent SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr6:41165887G>A uc010jxm.1 - 1 515 c.336C>T c.(334-336)atC>atT p.I112I NM_024807 NP_079083 Q5T2D2 TRML2_HUMAN Homo sapiens triggering receptor expressed on myeloid cells-like 2 (TREML2), mRNA. 112 Ig-like V-type. T cell activation cell surface|integral to membrane|plasma membrane protein binding|receptor activity breast(1)|central_nervous_system(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1) 18 Ovarian(28;0.0418)|Colorectal(47;0.196) AGGGGTACAGGATCCCAGAGG 0.622000 32 7 0 0 0.001984 0 0 PGBD1 84547 broad.mit.edu 37 6 28269287 28269287 + Silent SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr6:28269287C>T uc003nky.3 + 6 2076 c.1656C>T c.(1654-1656)tgC>tgT p.C552C PGBD1_uc003nkz.3_Silent_p.C552C NM_032507 NP_115896 Q96JS3 PGBD1_HUMAN Homo sapiens piggyBac transposable element derived 1 (PGBD1), transcript variant 2, mRNA. 552 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 TGTGTGAATGCTTTGATAGTG 0.363000 60 21 0 0 0.012319 0 0 PRUNE2 158471 broad.mit.edu 37 9 79325624 79325624 + Silent SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr9:79325624G>A uc010mpk.3 - 7 1690 c.1566C>T c.(1564-1566)ttC>ttT p.F522F PRUNE2_uc022bih.1_Silent_p.F344F NM_015225 NP_056040 Q8WUY3 PRUN2_HUMAN Homo sapiens prune homolog 2 (Drosophila) (PRUNE2), mRNA. 522 G1 phase|apoptosis|induction of apoptosis cytoplasm metal ion binding|pyrophosphatase activity endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1) 16 CACTGTTGGGGAAGAAGTCAT 0.507000 16 4 0 0 0.000602 0 0 ALK 238 broad.mit.edu 37 2 29450451 29450451 + Missense_Mutation SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr2:29450451G>A uc002rmy.3 - 16 3855 c.2903C>T c.(2902-2904)cCa>cTa p.P968L NM_004304 NP_004295 Q9UM73 ALK_HUMAN Homo sapiens anaplastic lymphoma receptor tyrosine kinase (ALK), mRNA. 968 protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity p.P968Q(2) ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9) NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2) 340 Acute lymphoblastic leukemia(172;0.155) Adenosine triphosphate(DB00171) TTTTAAAGCTGGGGTGTACAG 0.517000 """T, Mis, A""" """NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22""" """ALCL, NSCLC, Neuroblastoma""" neuroblastoma Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome 107 30 0 0 0.010818 0 0 TMEM52 339456 broad.mit.edu 37 1 1849479 1849479 + Missense_Mutation SNP C T T rs141967299 TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr1:1849479C>T uc001aij.2 - 4 508 c.472G>A c.(472-474)Gat>Aat p.D158N TMEM52_uc001aii.2_Missense_Mutation_p.D143N NM_178545 NP_848640 Q8NDY8 TMM52_HUMAN Homo sapiens transmembrane protein 52 (TMEM52), mRNA. 158 integral to membrane NS(1)|prostate(1)|stomach(1) 3 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)|Medulloblastoma(700;0.151)|Lung SC(97;0.217) Epithelial(90;1.82e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.75e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199) ACAGCTTCATCGTAGGAGGGT 0.632000 127 27 0 0 0.010818 0 0 CLDN1 9076 broad.mit.edu 37 3 190030677 190030677 + Silent SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr3:190030677C>T uc003fsh.3 - 1 612 c.372G>A c.(370-372)gcG>gcA p.A124A NM_021101 NP_066924 O95832 CLD1_HUMAN Homo sapiens claudin 1 (CLDN1), mRNA. 124 calcium-independent cell-cell adhesion|interspecies interaction between organisms integral to plasma membrane|tight junction identical protein binding|structural molecule activity lung(9) 9 all_cancers(143;2.95e-10)|Ovarian(172;0.0512) Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05) GBM - Glioblastoma multiforme(93;0.015) GAAGAAATATCGCACCCCCAA 0.448000 105 34 0 0 0.012213 0 0 DSC2 1824 broad.mit.edu 37 18 28671044 28671044 + Missense_Mutation SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr18:28671044G>A uc002kwl.4 - 3 875 c.421C>T c.(421-423)Cct>Tct p.P141S DSC2_uc002kwk.4_Missense_Mutation_p.P141S NM_024422 NP_077740 Q02487 DSC2_HUMAN Homo sapiens desmocollin 2 (DSC2), transcript variant Dsc2a, mRNA. 141 Cadherin 1. homophilic cell adhesion desmosome|integral to membrane calcium ion binding endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1) 21 OV - Ovarian serous cystadenocarcinoma(10;0.0241) ATCGAACAAGGAATTGGAGCC 0.398000 19 4 0 0 0.009096 0 0 ARMC4 55130 broad.mit.edu 37 10 28149631 28149631 + Missense_Mutation SNP C T T rs146309511 TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr10:28149631C>T uc009xky.3 - 18 3042 c.2944G>A c.(2944-2946)Gcg>Acg p.A982T ARMC4_uc010qds.2_Missense_Mutation_p.A507T|ARMC4_uc010qdt.2_Missense_Mutation_p.A674T|ARMC4_uc001itz.3_Missense_Mutation_p.A982T NM_018076 NP_060546 Q5T2S8 ARMC4_HUMAN Homo sapiens armadillo repeat containing 4 (ARMC4), mRNA. 982 binding p.A982V(1) 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 TGAGCTGTCGCCCGATGCACG 0.498000 70 22 0 0 0.002780 0 0 MADD 8567 broad.mit.edu 37 11 47350616 47350616 + Missense_Mutation SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr11:47350616C>T uc001ner.1 + 35 5050 c.4859C>T c.(4858-4860)tCc>tTc p.S1620F MADD_uc001neq.2_Missense_Mutation_p.S1561F|MADD_uc001nev.1_3'UTR|MADD_uc001nes.1_Missense_Mutation_p.S1538F|MADD_uc001net.1_Missense_Mutation_p.S1581F|MADD_uc009yln.1_Missense_Mutation_p.S1514F|MADD_uc001neu.1_Missense_Mutation_p.S1518F|MADD_uc001nez.2_Missense_Mutation_p.S1517F|MADD_uc001new.2_Missense_Mutation_p.S1560F|MADD_uc001nex.2_3'UTR NM_003682 NP_003673 Q8WXG6 MADD_HUMAN Homo sapiens MAP-kinase activating death domain (MADD), transcript variant 4, mRNA. 1620 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 p.S1620F(4)|p.S1620S(1) 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) ATCTGCTACTCCGTATTATGT 0.537000 128 57 0 0 0.014410 0 0 FBXO24 26261 broad.mit.edu 37 7 100187601 100187601 + Splice_Site SNP T G G TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr7:100187601T>G uc011kjz.1 + 2 222 c.154_splice c.e2-1 p.V52_splice FBXO24_uc010lha.1_Splice_Site|FBXO24_uc003uvl.1_Splice_Site_p.V14_splice|FBXO24_uc003uvm.1_Splice_Site_p.V14_splice|FBXO24_uc003uvn.1_Intron|LOC100129845_uc011kjy.2_Non-coding_Transcript|FBXO24_uc011kka.1_Splice_Site_p.V2_splice NM_012172 NP_036304 O75426 FBX24_HUMAN Homo sapiens F-box protein 24 (FBXO24), transcript variant 3, mRNA. 14 F-box. ubiquitin ligase complex ubiquitin-protein ligase activity NS(2)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(3)|skin(4)|urinary_tract(2) 28 Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439) CTTGGGTAGGTGAAGAGAAGC 0.557000 89 17 0 0 0.002780 0 0 RFX6 222546 broad.mit.edu 37 6 117240361 117240361 + Missense_Mutation SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr6:117240361G>A uc003pxm.3 + 10 1147 c.1084G>A c.(1084-1086)Gaa>Aaa p.E362K NM_173560 NP_775831 Q8HWS3 RFX6_HUMAN Homo sapiens regulatory factor X, 6 (RFX6), mRNA. 362 glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation nucleus protein binding|transcription regulatory region DNA binding cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 59 TTCATCCTTGGAAAACTTGCC 0.358000 36 10 0 0 0.006214 0 0 DGKE 8526 broad.mit.edu 37 17 54939586 54939586 + Nonsense_Mutation SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr17:54939586C>T uc002iur.3 + 10 1678 c.1498C>T c.(1498-1500)Cga>Tga p.R500* DGKE_uc002ius.1_Nonsense_Mutation_p.R500* NM_003647 NP_003638 P52429 DGKE_HUMAN Homo sapiens diacylglycerol kinase, epsilon 64kDa (DGKE), mRNA. 500 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|phospholipid biosynthetic process|platelet activation integral to membrane|plasma membrane ATP binding|diacylglycerol kinase activity|metal ion binding|protein binding p.R500*(2) breast(3)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1) 25 Breast(9;3.59e-07) TAATCCTTTTCGAATAGGACA 0.393000 18 9 0 0 0.010729 0 0 TLL1 7092 broad.mit.edu 37 4 166913964 166913964 + Missense_Mutation SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr4:166913964G>A uc003irh.2 + 2 936 c.289G>A c.(289-291)Gga>Aga p.G97R TLL1_uc021xud.1_Missense_Mutation_p.G97R|TLL1_uc011cjn.2_Missense_Mutation_p.G97R|TLL1_uc011cjo.2_5'UTR NM_012464 NP_036596 O43897 TLL1_HUMAN Homo sapiens tolloid-like 1 (TLL1), transcript variant 1, mRNA. 97 cell differentiation|proteolysis|skeletal system development extracellular region calcium ion binding|metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 77 all_hematologic(180;0.221) Melanoma(52;0.0315)|Prostate(90;0.0405) GBM - Glioblastoma multiforme(119;0.103) AGGTGGACTTGGAGACCATGC 0.363000 56 14 0 0 0.002450 0 0 MST1P2 11209 broad.mit.edu 37 1 16974277 16974277 + RNA SNP A C C rs151151026 by1000genomes TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr1:16974277A>C uc009vow.2 + 4 c.1087A>C MST1P2_uc010ocg.1_Non-coding_Transcript|MST1P2_uc010och.2_Splice_Site|MST1P2_uc010oci.1_Non-coding_Transcript|MST1P2_uc001azk.2_Splice_Site|MST1P2_uc009vox.3_Splice_Site|MST1P2_uc001azm.4_Splice_Site Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 2 (MST1P2), non-coding RNA. GGTCCATCTAAGGGTCCGAGG 0.657000 24 3 0 0 0.004672 0 0 CNTNAP2 26047 broad.mit.edu 37 7 147600733 147600733 + Silent SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr7:147600733C>T uc003weu.2 + 13 2691 c.2175C>T c.(2173-2175)atC>atT p.I725I NM_014141 NP_054860 Q9UHC6 CNTP2_HUMAN Homo sapiens contactin associated protein-like 2 (CNTNAP2), mRNA. 725 Fibrinogen C-terminal. behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex receptor binding NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3) 188 Melanoma(164;0.153) all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794) OV - Ovarian serous cystadenocarcinoma(82;0.0319) GGCCTGGAATCCAGAAATGTG 0.532000 HNSCC(39;0.1) 22 5 0 0 0.000602 0 0 PCDHAC2 56134 broad.mit.edu 37 5 140389474 140389474 + Silent SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr5:140389474G>A uc003lii.3 + 3 3581 c.2976G>A c.(2974-2976)caG>caA p.Q992Q PCDHAC2_uc003lha.2_Silent_p.Q671Q|PCDHAC2_uc003lhb.2_Silent_p.Q935Q|PCDHAC2_uc003lhd.2_Silent_p.Q933Q|PCDHAC2_uc003lhf.2_Silent_p.Q935Q|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Silent_p.Q932Q|PCDHAC2_uc003lhl.2_Silent_p.Q921Q|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Silent_p.Q935Q|PCDHAC2_uc003lhn.2_Silent_p.Q671Q|PCDHAC2_uc003lhq.2_Silent_p.Q922Q|PCDHAC2_uc003lhs.2_Silent_p.Q935Q|PCDHAC2_uc003lhu.2_Silent_p.Q935Q|PCDHAC2_uc003lhw.2_Silent_p.Q670Q|PCDHAC2_uc003lhx.2_Silent_p.Q933Q|PCDHAC2_uc003lia.2_Silent_p.Q934Q|PCDHAC2_uc003lic.2_Silent_p.Q926Q|PCDHAC2_uc003lif.2_Silent_p.Q935Q|PCDHAC2_uc003lie.1_Intron|PCDHAC2_uc003lih.2_Silent_p.Q948Q NM_018899 NP_061722 Q9Y5I4 PCDC2_HUMAN Homo sapiens protocadherin alpha subfamily C, 2 (PCDHAC2), transcript variant 1, mRNA. 992 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) ACAAGACCCAGGAGAAAAAAG 0.413000 60 16 0 0 0.004990 0 0 ZNF221 7638 broad.mit.edu 37 19 44471067 44471067 + Silent SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr19:44471067C>T uc002oxx.2 + 5 1741 c.1413C>T c.(1411-1413)gtC>gtT p.V471V ZNF221_uc010ejb.1_Silent_p.V471V|ZNF221_uc010xws.1_Silent_p.V471V NM_013359 NP_037491 Q9UK13 ZN221_HUMAN Homo sapiens zinc finger protein 221 (ZNF221), mRNA. 471 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(11)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 30 Prostate(69;0.0352) ACCAGAGGGTCCACACGGGTG 0.473000 39 7 0 0 0.003080 0 0 SEZ6L 23544 broad.mit.edu 37 22 26709827 26709827 + Silent SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr22:26709827C>T uc003acb.3 + 8 2170 c.1974C>T c.(1972-1974)atC>atT p.I658I SEZ6L_uc003acd.3_Silent_p.I658I|SEZ6L_uc011akd.2_Silent_p.I658I|SEZ6L_uc003ace.3_Silent_p.I658I|SEZ6L_uc011akc.2_Silent_p.I658I|SEZ6L_uc003acc.3_Silent_p.I658I|SEZ6L_uc003acf.1_Silent_p.I431I|SEZ6L_uc010gvc.1_Silent_p.I431I NM_021115 NP_066938 Q9BYH1 SE6L1_HUMAN Homo sapiens seizure related 6 homolog (mouse)-like (SEZ6L), transcript variant 1, mRNA. 658 CUB 3. endoplasmic reticulum membrane|integral to membrane breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 80 TCTGGAAGATCCACGTGGGAG 0.493000 90 19 0 0 0.006122 0 0 PWWP2A 114825 broad.mit.edu 37 5 159520234 159520234 + Missense_Mutation SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr5:159520234G>A uc011ded.2 - 1 1480 c.1423C>T c.(1423-1425)Cgt>Tgt p.R475C PWWP2A_uc003lxv.4_Missense_Mutation_p.R475C|PWWP2A_uc011dec.2_Missense_Mutation_p.R475C NM_001130864 NP_001124336 Q96N64 PWP2A_HUMAN Homo sapiens PWWP domain containing 2A (PWWP2A), transcript variant 2, mRNA. 475 kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1) 5 Renal(175;0.00196) Medulloblastoma(196;0.0354)|all_neural(177;0.138) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) GGTTTTAAACGAACCCGGGGT 0.458000 39 6 0 0 0.004482 0 0 HEATR5B 54497 broad.mit.edu 37 2 37235774 37235774 + Missense_Mutation SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr2:37235774G>A uc002rpp.1 - 27 4598 c.4502C>T c.(4501-4503)tCt>tTt p.S1501F HEATR5B_uc010ezy.1_Missense_Mutation_p.S85F|HEATR5B_uc002rpq.4_Missense_Mutation_p.S85F NM_019024 NP_061897 Q9P2D3 HTR5B_HUMAN Homo sapiens HEAT repeat containing 5B (HEATR5B), mRNA. 1501 binding breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 77 all_hematologic(82;0.21) AAGCTGACTAGAAAATTCGGC 0.378000 34 5 0 0 0.000602 0 0 RBMY1A3P 286557 broad.mit.edu 37 Y 9160442 9160442 + RNA SNP A C C TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chrY:9160442A>C uc004frl.1 - 0 c.42T>G Homo sapiens RNA binding motif protein, Y-linked, family 1, member A3 pseudogene (RBMY1A3P), non-coding RNA. TTGAGGCCACAAATGAAAAGC 0.348000 40 6 0 0 0.001168 0 0 MXRA5 25878 broad.mit.edu 37 X 3227829 3227829 + Silent SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chrX:3227829G>A uc004crg.4 - 6 8572 c.8415C>T c.(8413-8415)gcC>gcT p.A2805A NM_015419 NP_056234 Q9NR99 MXRA5_HUMAN Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA. 2805 Ig-like C2-type 12. 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) TGTAGAAGCCGGCATCTCTCT 0.488000 15 8 0 0 0.004482 0 0 QRICH2 84074 broad.mit.edu 37 17 74288612 74288612 + Silent SNP T C C TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr17:74288612T>C uc002jrd.1 - 3 1878 c.1698A>G c.(1696-1698)caA>caG p.Q566Q QRICH2_uc010dgw.1_Intron NM_032134 NP_115510 Q9H0J4 QRIC2_HUMAN Homo sapiens glutamine rich 2 (QRICH2), mRNA. 566 Gln-rich. protein binding p.V565V(1) breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4) 62 CTACTCCAGGTTGGACCAAAC 0.532000 51 11 0 0 0.010729 0 0 SON 6651 broad.mit.edu 37 21 34923547 34923547 + Silent SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr21:34923547G>A uc002yse.1 + 2 2059 c.2010G>A c.(2008-2010)tcG>tcA p.S670S SON_uc002ysb.1_Silent_p.S670S|SON_uc002ysc.3_Silent_p.S670S|SON_uc002ysd.3_5'UTR|SON_uc002ysf.1_Intron|SON_uc021win.1_Silent_p.S316S|SON_uc002ysg.3_5'Flank NM_138927 NP_620305 P18583 SON_HUMAN Homo sapiens SON DNA binding protein (SON), transcript variant f, mRNA. 670 RNA splicing|anti-apoptosis|cytokinesis|mRNA processing|regulation of RNA splicing|regulation of cell cycle|spindle pole body separation nuclear speck DNA binding|double-stranded RNA binding breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 72 TGACCGTGTCGCAGTCCCTGG 0.572000 48 13 0 0 0.013537 0 0 LOC100233156 100233156 broad.mit.edu 37 GL000218.1 38876 38876 + Missense_Mutation SNP T G G TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chrGL000218.1:38876T>G uc011mfn.2 - 4 676 c.587A>C c.(586-588)cAc>cCc p.H196P LOC100233156_uc003jah.2_3'UTR Homo sapiens tektin 4 pseudogene (LOC100233156), transcript variant 1, non-coding RNA. AGGATGGGGGTGTAGCAAGTA 0.562000 4 3 0 0 0.000602 0 0 OR5A1 219982 broad.mit.edu 37 11 59211024 59211024 + Missense_Mutation SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr11:59211024C>T uc001nnx.1 + 0 383 c.383C>T c.(382-384)gCc>gTc p.A128V NM_001004728 NP_001004728 Q8NGJ0 OR5A1_HUMAN Homo sapiens olfactory receptor, family 5, subfamily A, member 1 (OR5A1), mRNA. 128 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1) 28 CGATATGCAGCCATCTCCAGC 0.537000 221 20 0 0 0.012319 0 0 HCP5 10866 broad.mit.edu 37 6 31431687 31431687 + RNA SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr6:31431687C>T uc003ntl.3 + 1 c.640C>T HCP5_uc021yup.1_Non-coding_Transcript Q6MZN7 HCP5_HUMAN Homo sapiens HLA complex P5 (non-protein coding) (HCP5), non-coding RNA. defense response urinary_tract(1) 1 catgcctcctcctggggatca 0.582000 95 12 0 0 0.010729 0 0 PDE6A 5145 broad.mit.edu 37 5 149242808 149242808 + Missense_Mutation SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr5:149242808C>T uc003lrg.4 - 20 2500 c.2380G>A c.(2380-2382)Gag>Aag p.E794K PDE6A_uc021yfs.1_Missense_Mutation_p.E713K NM_000440 NP_000431 P16499 PDE6A_HUMAN Homo sapiens phosphodiesterase 6A, cGMP-specific, rod, alpha (PDE6A), mRNA. 794 GMP metabolic process|cytosolic calcium ion homeostasis|platelet activation|signal transduction|visual perception cytosol|plasma membrane 3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(2) 44 KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147) GGGGTGATCTCCTCGTGGAAA 0.557000 60 21 0 0 0.008871 0 0 INPPL1 3636 broad.mit.edu 37 11 71946430 71946430 + Missense_Mutation SNP A T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr11:71946430A>T uc001osf.3 + 22 2741 c.2594A>T c.(2593-2595)aAt>aTt p.N865I INPPL1_uc001osg.3_Missense_Mutation_p.N623I NM_001567 NP_001558 O15357 SHIP2_HUMAN Homo sapiens inositol polyphosphate phosphatase-like 1 (INPPL1), mRNA. 865 actin filament organization|cell adhesion|endocytosis actin cortical patch|cytosol SH2 domain binding|SH3 domain binding|actin binding p.G864D(1) 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 GAGACAGGCAATATCAGAGGC 0.617000 217 35 0 0 0.006230 0 0 DDX11L11 0 broad.mit.edu 37 12 92119 92119 + Missense_Mutation SNP T C C TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr12:92119T>C uc010sdi.1 - 1 219 c.191A>G c.(190-192)cAc>cGc p.H64R DDX11L11_uc010sdj.1_Non-coding_Transcript SubName: Full=DEAD/H box polypeptide 11 like 11; CGCCAGGCAGTGGTGCAGCTG 0.592000 18 6 0 0 0.001168 0 0 GIMAP1-GIMAP5 100527949 broad.mit.edu 37 7 150417521 150417521 + Silent SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr7:150417521C>T uc003whq.3 + 2 569 c.429C>T c.(427-429)gtC>gtT p.V143V GIMAP1-GIMAP5_uc022apw.1_Intron NM_130759 NP_570115 Homo sapiens GTPase, IMAP family member 1 (GIMAP1), mRNA. GGGAGGACGTCCTAAAATGGA 0.647000 62 18 0 0 0.004990 0 0 RUNX1T1 862 broad.mit.edu 37 8 93023298 93023298 + Missense_Mutation SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr8:93023298C>T uc022axs.1 - 4 854 c.667G>A c.(667-669)Gaa>Aaa p.E223K RUNX1T1_uc003yfc.2_Missense_Mutation_p.E137K|RUNX1T1_uc010mam.3_Missense_Mutation_p.E137K|RUNX1T1_uc003yfe.2_Missense_Mutation_p.E127K|RUNX1T1_uc003yfd.3_Missense_Mutation_p.E164K|RUNX1T1_uc022axo.1_Missense_Mutation_p.E164K|RUNX1T1_uc010mao.3_Missense_Mutation_p.E137K|RUNX1T1_uc011lgi.2_Missense_Mutation_p.E175K|RUNX1T1_uc022axp.1_Missense_Mutation_p.E164K|RUNX1T1_uc022axq.1_Missense_Mutation_p.E164K|RUNX1T1_uc022axr.1_Missense_Mutation_p.E164K|RUNX1T1_uc022axt.1_Missense_Mutation_p.E164K|RUNX1T1_uc022axu.1_Missense_Mutation_p.E144K|RUNX1T1_uc022axv.1_Missense_Mutation_p.E164K|RUNX1T1_uc003yfb.2_Missense_Mutation_p.E127K|RUNX1T1_uc003yff.1_Missense_Mutation_p.E127K|RUNX1T1_uc003yfg.2_Missense_Mutation_p.E127K 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. 164 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) GAATGAAATTCTTCAATTGTC 0.323000 54 8 0 0 0.006214 0 0 SCN5A 6331 broad.mit.edu 37 3 38674787 38674787 + Silent SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr3:38674787G>A uc021wvo.1 - 0 64 c.12C>T c.(10-12)ttC>ttT p.F4F SCN5A_uc021wvk.1_Silent_p.F4F|SCN5A_uc021wvl.1_Silent_p.F4F|SCN5A_uc021wvm.1_Silent_p.F4F|SCN5A_uc021wvn.1_Silent_p.F4F|SCN5A_uc021wvp.1_Silent_p.F4F|SCN5A_uc021wvq.1_Silent_p.F4F|SCN5A_uc021wvr.1_Silent_p.F4F|SCN5A_uc021wvs.1_Silent_p.F4F|SCN5A_uc021wvt.1_Silent_p.F4F|SCN5A_uc021wvu.1_Silent_p.F4F|SCN5A_uc021wvv.1_Silent_p.F4F|SCN5A_uc021wvx.1_Missense_Mutation_p.S7F NM_198056 NP_932173 Q14524 SCN5A_HUMAN Homo sapiens sodium channel, voltage-gated, type V, alpha subunit (SCN5A), transcript variant 1, mRNA. 4 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) GAGGTAATAGGAAGTTTGCCA 0.587000 48 13 0 0 0.002450 0 0 PCM1 5108 broad.mit.edu 37 8 17830107 17830107 + Missense_Mutation SNP A G G TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr8:17830107A>G uc022asj.1 + 21 3993 c.3971A>G c.(3970-3972)cAg>cGg p.Q1324R PCM1_uc003wyi.4_Missense_Mutation_p.Q1285R|PCM1_uc011kyh.2_Missense_Mutation_p.Q1285R|PCM1_uc003wyj.4_Missense_Mutation_p.Q1286R|PCM1_uc011kyi.2_Missense_Mutation_p.Q147R|PCM1_uc011kyj.2_Missense_Mutation_p.Q22R|PCM1_uc003wyk.4_Missense_Mutation_p.Q22R NM_006197 NP_006188 Q15154 PCM1_HUMAN Homo sapiens pericentriolar material 1 (PCM1), mRNA. 1285 Interaction with HAP1. G2/M transition of mitotic cell cycle|centrosome organization|cilium assembly|interkinetic nuclear migration|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome centriolar satellite|cytosol|nuclear membrane|pericentriolar material identical protein binding PCM1/JAK2(30) breast(4)|endometrium(8)|kidney(5)|large_intestine(16)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 48 Colorectal(111;0.0789) GCGTCTGCACAGGCCAGCCTG 0.398000 T """RET, JAK2""" """papillary thyroid, CML, MPD""" 52 9 0 0 0.004482 0 0 SPTB 6710 broad.mit.edu 37 14 65260425 65260425 + Nonsense_Mutation SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr14:65260425C>T uc001xht.3 - 12 2007 c.1956G>A c.(1954-1956)tgG>tgA p.W652* SPTB_uc001xhr.3_Nonsense_Mutation_p.W652*|SPTB_uc001xhs.3_Nonsense_Mutation_p.W652*|SPTB_uc001xhu.3_Nonsense_Mutation_p.W652* NM_000347 NP_000338 P11277 SPTB1_HUMAN Homo sapiens spectrin, beta, erythrocytic (SPTB), transcript variant 2, mRNA. 652 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) TCTCCTTGATCCAGCTCTCAG 0.537000 45 10 0 0 0.006214 0 0 MYH13 8735 broad.mit.edu 37 17 10233820 10233820 + Silent SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr17:10233820G>A uc002gmk.1 - 20 2409 c.2319C>T c.(2317-2319)ctC>ctT p.L773L NM_003802 NP_003793 Q9UKX3 MYH13_HUMAN Homo sapiens myosin, heavy chain 13, skeletal muscle (MYH13), mRNA. 773 Actin-binding (By similarity).|Myosin head-like. muscle contraction muscle myosin complex|myofibril|myosin filament ATP binding|actin binding|calmodulin binding|microfilament motor activity breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2) 108 AAAGTCCCAGGAGCCCAGCTT 0.557000 5 3 0 0 0.009096 0 0 SORCS3 22986 broad.mit.edu 37 10 106960892 106960892 + Silent SNP C T T rs150188088 TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr10:106960892C>T uc001kyi.1 + 15 2369 c.2142C>T c.(2140-2142)gtC>gtT p.V714V SORCS3_uc010qqz.1_Non-coding_Transcript NM_014978 NP_055793 Q9UPU3 SORC3_HUMAN Homo sapiens sortilin-related VPS10 domain containing receptor 3 (SORCS3), mRNA. 714 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) AGCCTTGTGTCATGGGAGAAA 0.463000 28 6 0 0 0.003080 0 0 ADAMTS19 171019 broad.mit.edu 37 5 129015588 129015588 + Missense_Mutation SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr5:129015588C>T uc003kvb.1 + 16 2620 c.2620C>T c.(2620-2622)Cct>Tct p.P874S ADAMTS19_uc010jdh.1_Non-coding_Transcript NM_133638 NP_598377 Q8TE59 ATS19_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 19 (ADAMTS19), mRNA. 874 Spacer. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6) 91 all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) OV - Ovarian serous cystadenocarcinoma(64;0.222) TGCCAAAGGTCCTACTACAGC 0.443000 54 7 0 0 0.004482 0 0 ADAMTS14 140766 broad.mit.edu 37 10 72492039 72492039 + Missense_Mutation SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr10:72492039C>T uc001jrg.3 + 6 1141 c.1141C>T c.(1141-1143)Ccc>Tcc p.P381S ADAMTS14_uc001jrh.3_Missense_Mutation_p.P378S|ADAMTS14_uc001jri.1_5'Flank NM_139155 NP_631894 Q8WXS8 ATS14_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 14 (ADAMTS14), transcript variant 1, mRNA. 378 Peptidase M12B. collagen catabolic process|proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 50 CATGTGTCACCCCCTGAGGAG 0.592000 26 7 0 0 0.003080 0 0 LYG2 254773 broad.mit.edu 37 2 99860574 99860574 + Silent SNP G A A rs140282833 TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr2:99860574G>A uc002szw.1 - 4 521 c.408C>T c.(406-408)gtC>gtT p.V136V MRPL30_uc002szl.1_Intron|LYG2_uc010fip.1_Silent_p.V136V|LYG2_uc002szx.1_Silent_p.V136V NM_175735 NP_783862 Q86SG7 LYG2_HUMAN Homo sapiens lysozyme G-like 2 (LYG2), mRNA. 136 cell wall macromolecule catabolic process|peptidoglycan catabolic process extracellular region lysozyme activity large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(1)|stomach(1) 12 CCCAGGCACCGACAGGGTGGT 0.428000 36 10 0 0 0.006214 0 0 ABHD4 63874 broad.mit.edu 37 14 23078744 23078744 + Silent SNP C T T rs150961383 byFrequency TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr14:23078744C>T uc001wgm.3 + 5 936 c.867C>T c.(865-867)tcC>tcT p.S289S ABHD4_uc010tna.1_3'UTR|ABHD4_uc010tnb.2_Non-coding_Transcript NM_022060 NP_071343 Q8TB40 ABHD4_HUMAN Homo sapiens abhydrolase domain containing 4 (ABHD4), mRNA. 289 lipid catabolic process hydrolase activity breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(3)|lung(3)|prostate(1) 14 all_cancers(95;5.49e-05) GBM - Glioblastoma multiforme(265;0.0153) TCTACGGGTCCGACACCTGGA 0.517000 51 19 0 0 0.007413 0 0 VARS 7407 broad.mit.edu 37 6 31753402 31753402 + Silent SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr6:31753402G>A uc003nxe.3 - 8 1632 c.1209C>T c.(1207-1209)agC>agT p.S403S VARS_uc011doi.1_Non-coding_Transcript NM_006295 NP_006286 P26640 SYVC_HUMAN Homo sapiens valyl-tRNA synthetase (VARS), nuclear gene encoding mitochondrial protein, mRNA. 403 translational elongation|valyl-tRNA aminoacylation cytosol ATP binding|protein binding|valine-tRNA ligase activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 30 L-Valine(DB00161) GCTGGTGCCGGCTCAGTCCCT 0.622000 233 44 0 0 0.014410 0 0 PSG4 5672 broad.mit.edu 37 19 43411093 43411093 + Silent SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr19:43411093G>A uc002ovj.1 - 4 1320 c.1221C>T c.(1219-1221)tcC>tcT p.S407S PSG3_uc002ouf.3_Intron|PSG4_uc010xwk.1_Silent_p.S247S|PSG4_uc002ovg.1_Silent_p.S407S NM_002782 NP_002773 Q00888 PSG4_HUMAN Homo sapiens pregnancy specific beta-1-glycoprotein 6 (PSG6), transcript variant 1, mRNA. 408 Ig-like C2-type 3. defense response|female pregnancy extracellular region central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 24 Prostate(69;0.00682) TGACTATCATGGATTTGGAGA 0.443000 176 56 0 0 0.014410 0 0 TNFRSF21 27242 broad.mit.edu 37 6 47252044 47252044 + Silent SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr6:47252044G>A uc003oyv.3 - 2 1306 c.873C>T c.(871-873)acC>acT p.T291T NM_014452 NP_055267 O75509 TNR21_HUMAN Homo sapiens tumor necrosis factor receptor superfamily, member 21 (TNFRSF21), mRNA. 291 cellular lipid metabolic process cytoplasm|integral to membrane protein binding|receptor activity p.T291I(1) breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(7)|pancreas(1)|skin(2) 21 Lung(136;0.189) GGTTTGGGAGGGTCTTGTTCA 0.567000 160 21 0 0 0.012319 0 0 CSMD1 64478 broad.mit.edu 37 8 3045479 3045479 + Silent SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr8:3045479C>T uc022aqr.1 - 35 5922 c.5532G>A c.(5530-5532)gtG>gtA p.V1844V CSMD1_uc011kwj.2_Silent_p.V1237V|CSMD1_uc003wqe.3_Silent_p.V1001V|CSMD1_uc010lrg.3_5'UTR NM_033225 NP_150094 Q96PZ7 CSMD1_HUMAN Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA. 1845 CUB 11. IQVISFATEQNWDSL -> DPSDQFCHGAELGLPF (in Ref. 1; AAK73475/AAG52948). 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) CAAAACTGATCACTTGGATCT 0.433000 26 5 0 0 0.000602 0 0 MRPL10 124995 broad.mit.edu 37 17 45901815 45901815 + Missense_Mutation SNP A G G TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr17:45901815A>G uc002ily.3 - 5 670 c.572T>C c.(571-573)aTt>aCt p.I191T OSBPL7_uc002ilx.1_5'Flank|MRPL10_uc002ilz.3_Missense_Mutation_p.I181T|MRPL10_uc010wky.2_Missense_Mutation_p.I142T NM_148887 NP_683685 Q7Z7H8 RM10_HUMAN Homo sapiens mitochondrial ribosomal protein L10 (MRPL10), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA. 181 ribosome biogenesis|translation mitochondrial large ribosomal subunit structural constituent of ribosome endometrium(3)|large_intestine(1)|lung(3)|ovary(1) 8 GGTGTCATCAATGCAGCCACC 0.537000 56 7 0 0 0.006214 0 0 CDC34 997 broad.mit.edu 37 19 535879 535879 + Missense_Mutation SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr19:535879G>A uc002lov.3 + 1 419 c.220G>A c.(220-222)Gcc>Acc p.A74T NM_004359 NP_004350 P49427 UB2R1_HUMAN Homo sapiens cell division cycle 34 homolog (S. cerevisiae) (CDC34), mRNA. 74 DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|negative regulation of cAMP-mediated signaling|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination cytoplasm|nucleus ATP binding|protein binding|ubiquitin-protein ligase activity p.A74A(1) large_intestine(1)|lung(1) 2 all_cancers(10;1.94e-35)|all_epithelial(18;5.94e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CTCTCCACCAGCCTTTCGGTT 0.647000 229 68 0 0 0.014410 0 0 OR2A2 442361 broad.mit.edu 37 7 143806795 143806795 + Silent SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr7:143806795G>A uc011ktz.2 + 0 120 c.120G>A c.(118-120)ggG>ggA p.G40G 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) CCCTGCTGGGGAATGGGGTCA 0.512000 120 22 0 0 0.004656 0 0 FUT9 10690 broad.mit.edu 37 6 96651190 96651190 + Silent SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr6:96651190C>T uc003pop.4 + 2 500 c.159C>T c.(157-159)ttC>ttT p.F53F FUT9_uc021zcw.1_Silent_p.F53F NM_006581 NP_006572 Q9Y231 FUT9_HUMAN Homo sapiens fucosyltransferase 9 (alpha (1,3) fucosyltransferase) (FUT9), mRNA. 53 L-fucose catabolic process|protein glycosylation Golgi cisterna membrane|integral to membrane alpha(1,3)-fucosyltransferase activity p.N52N(1) NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2) 34 all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356) BRCA - Breast invasive adenocarcinoma(108;0.08) TGAAAAACTTCTTTTCCACCA 0.418000 53 11 0 0 0.010729 0 0 PLAC1 10761 broad.mit.edu 37 X 133700464 133700464 + Silent SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chrX:133700464C>T uc004exo.1 - 2 535 c.249G>A c.(247-249)agG>agA p.R83R PLAC1_uc004exp.1_Silent_p.R83R|PLAC1_uc022cei.1_Silent_p.R83R NM_021796 NP_068568 Q9HBJ0 PLAC1_HUMAN Homo sapiens placenta-specific 1 (PLAC1), mRNA. 83 placenta development extracellular region large_intestine(4)|lung(1)|pancreas(1) 6 Acute lymphoblastic leukemia(192;0.000127) CAGCTTTGGCCCTGATGCCAC 0.502000 48 38 0 0 0.006999 0 0 CR1 1378 broad.mit.edu 37 1 207753681 207753681 + Missense_Mutation SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr1:207753681C>T uc001hfy.3 + 21 3823 c.3683C>T c.(3682-3684)cCt>cTt p.P1228L CR1_uc009xcl.1_Missense_Mutation_p.P778L|CR1_uc001hfx.3_Missense_Mutation_p.P1678L|CR1_uc021pij.1_Missense_Mutation_p.P1228L NM_000573 NP_000564 P17927 CR1_HUMAN Homo sapiens complement component (3b/4b) receptor 1 (Knops blood group) (CR1), transcript variant F, mRNA. 1228 Sushi 19. complement activation, classical pathway|innate immune response integral to plasma membrane complement receptor activity p.F1228L(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 82 AGCTGTGAGCCTGGCTATGAC 0.582000 107 29 0 0 0.008361 0 0 ITIH2 3698 broad.mit.edu 37 10 7786863 7786863 + Missense_Mutation SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr10:7786863G>A uc001ijs.3 + 18 2680 c.2518G>A c.(2518-2520)Gac>Aac p.D840N NM_002216 NP_002207 P19823 ITIH2_HUMAN Homo sapiens inter-alpha-trypsin inhibitor heavy chain 2 (ITIH2), mRNA. 840 hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 64 CGTCAATGTTGACTTTCTGGG 0.433000 58 15 0 0 0.006122 0 0 CSPP1 79848 broad.mit.edu 37 8 68107760 68107760 + Missense_Mutation SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr8:68107760G>A uc003xxi.3 + 30 3734 c.3703G>A c.(3703-3705)Gag>Aag p.E1235K ARFGEF1_uc003xxl.1_Intron|CSPP1_uc003xxj.3_Missense_Mutation_p.E1200K|CSPP1_uc003xxk.3_Missense_Mutation_p.E855K|CSPP1_uc010lyw.3_3'UTR NM_024790 NP_079066 Q1MSJ5 CSPP1_HUMAN Homo sapiens centrosome and spindle pole associated protein 1 (CSPP1), mRNA. 1235 centrosome|microtubule|spindle NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1) 49 Breast(64;0.214) Lung NSC(129;0.0908)|all_lung(136;0.152) Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153) GCTGAACCAGGAGCAGCAGCA 0.527000 52 10 0 0 0.006214 0 0 ZNRF4 148066 broad.mit.edu 37 19 5456284 5456284 + Missense_Mutation SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr19:5456284C>T uc002mca.4 + 0 859 c.782C>T c.(781-783)aCc>aTc p.T261I NM_181710 NP_859061 Q8WWF5 ZNRF4_HUMAN Homo sapiens zinc and ring finger 4 (ZNRF4), mRNA. 261 integral to membrane zinc ion binding NS(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 16 UCEC - Uterine corpus endometrioid carcinoma (162;0.0002) CTGGGCTGTACCCTGGCCCTG 0.667000 61 14 0 0 0.001855 0 0 KATNB1 10300 broad.mit.edu 37 16 57778395 57778395 + Silent SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr16:57778395C>T uc002eml.1 + 3 635 c.261C>T c.(259-261)atC>atT p.I87I NM_005886 NP_005877 Q9BVA0 KTNB1_HUMAN Homo sapiens katanin p80 (WD repeat containing) subunit B 1 (KATNB1), mRNA. 87 Interaction with centrosomes.|Interaction with dynein (By similarity). cell division|mitosis|negative regulation of microtubule depolymerization|positive regulation of microtubule depolymerization|protein targeting katanin complex|microtubule|spindle pole microtubule binding|protein heterodimerization activity cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 16 all_neural(199;0.223) CGGGCTCCATCCGTGTCTGGG 0.622000 84 10 0 0 0.008291 0 0 DMRTC2 63946 broad.mit.edu 37 19 42351549 42351549 + Missense_Mutation SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr19:42351549C>T uc010xwe.2 + 1 136 c.53C>T c.(52-54)cCc>cTc p.P18L DMRTC2_uc002orr.1_5'UTR|DMRTC2_uc002ors.3_Missense_Mutation_p.P18L NM_001040283 NP_001035373 Q8IXT2 DMRTD_HUMAN Homo sapiens DMRT-like family C2 (DMRTC2), mRNA. 18 cell differentiation|sex differentiation nucleus DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1) 10 GACTCTGCCCCCTGGGATGAG 0.632000 106 19 0 0 0.014323 0 0 PDXDC1 23042 broad.mit.edu 37 16 15110009 15110009 + Missense_Mutation SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr16:15110009G>A uc002dda.4 + 8 975 c.751G>A c.(751-753)Gac>Aac p.D251N PDXDC1_uc010uzl.2_Missense_Mutation_p.D236N|PDXDC1_uc010uzm.2_Missense_Mutation_p.D160N|PDXDC1_uc002dcz.3_Missense_Mutation_p.D228N|PDXDC1_uc002ddb.4_Missense_Mutation_p.D224N|PDXDC1_uc010uzn.2_Missense_Mutation_p.D223N|PDXDC1_uc002ddc.3_Missense_Mutation_p.D251N NM_015027 NP_055842 Q6P996 PDXD1_HUMAN Homo sapiens pyridoxal-dependent decarboxylase domain containing 1 (PDXDC1), mRNA. 251 carboxylic acid metabolic process carboxy-lyase activity|protein binding|pyridoxal phosphate binding central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(10)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 Pyridoxal Phosphate(DB00114) AGGACACACAGACAAGATTGG 0.463000 83 5 0 0 0.006214 0 0 NUP210 23225 broad.mit.edu 37 3 13368919 13368919 + Silent SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr3:13368919G>A uc003bxv.1 - 31 4388 c.4305C>T c.(4303-4305)atC>atT p.I1435I NM_024923 NP_079199 Q8TEM1 PO210_HUMAN Homo sapiens nucleoporin 210kDa (NUP210), mRNA. 1435 carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction endoplasmic reticulum membrane|nuclear membrane|nuclear pore NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2) 66 all_neural(104;0.187) GGCCCTTCCCGATCTGCACAA 0.592000 10 6 0 0 0.001168 0 0 TOX4 9878 broad.mit.edu 37 14 21960465 21960465 + Missense_Mutation SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr14:21960465G>A uc001waz.3 + 5 924 c.821G>A c.(820-822)aGg>aAg p.R274K TOX4_uc001way.3_Missense_Mutation_p.R144K|TOX4_uc010tlu.2_Missense_Mutation_p.R251K|TOX4_uc010tlv.2_Missense_Mutation_p.R144K NM_014828 NP_055643 O94842 TOX4_HUMAN Homo sapiens TOX high mobility group box family member 4 (TOX4), mRNA. 274 PTW/PP1 phosphatase complex|chromatin|nucleus DNA binding|protein binding large_intestine(8)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 all_cancers(95;0.000465) Epithelial(56;6.61e-06)|all cancers(55;5.15e-05) GBM - Glioblastoma multiforme(265;0.0149) GTATATAAGAGGAAAACTGAG 0.358000 50 15 0 0 0.003163 0 0 IMPG1 3617 broad.mit.edu 37 6 76657183 76657183 + Missense_Mutation SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr6:76657183C>T uc003pik.1 - 13 2022 c.1892G>A c.(1891-1893)gGg>gAg p.G631E NM_001563 NP_001554 Q17R60 IMPG1_HUMAN Homo sapiens interphotoreceptor matrix proteoglycan 1 (IMPG1), mRNA. 631 SEA 2. visual perception proteinaceous extracellular matrix extracellular matrix structural constituent|receptor activity breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222) AATCACACTCCCGTTTCTGAA 0.413000 21 3 0 0 0.004672 0 0 ITGA3 3675 broad.mit.edu 37 17 48141897 48141897 + Missense_Mutation SNP C A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr17:48141897C>A uc010dbm.3 + 2 804 c.340C>A c.(340-342)Cct>Act p.P114T ITGA3_uc010dbl.3_Missense_Mutation_p.P114T NM_005501 NP_005492 P26006 ITA3_HUMAN Homo sapiens integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor) (ITGA3), transcript variant b, mRNA. 114 blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|leukocyte migration cell surface|integrin complex protein binding|receptor activity endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2) 31 CACAGATGACCCTGGCCATCA 0.587000 30 7 5.4927e-09 6.00633e-09 0.004482 1 0 CSMD1 64478 broad.mit.edu 37 8 3265455 3265455 + Silent SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr8:3265455G>A uc022aqr.1 - 13 2427 c.2037C>T c.(2035-2037)tcC>tcT p.S679S CSMD1_uc011kwj.2_Silent_p.S72S NM_033225 NP_150094 Q96PZ7 CSMD1_HUMAN Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA. 680 CUB 4. 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) TGCCAGTAGTGGAATGGTCAG 0.458000 20 5 0 0 0.000602 0 0 GLT6D1 360203 broad.mit.edu 37 9 138518016 138518016 + Silent SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr9:138518016G>A uc010nbd.1 - 3 410 c.156C>T c.(154-156)ctC>ctT p.L52L NM_182974 NP_892019 Q7Z4J2 GL6D1_HUMAN Homo sapiens glycosyltransferase 6 domain containing 1 (GLT6D1), mRNA. 52 carbohydrate metabolic process integral to membrane transferase activity, transferring hexosyl groups endometrium(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1) 15 Myeloproliferative disorder(178;0.0821) OV - Ovarian serous cystadenocarcinoma(145;4.3e-07)|Epithelial(140;1.58e-06)|all cancers(34;5.36e-05) GGACAGGAGCGAGCCAGTCTG 0.532000 42 12 0 0 0.001855 0 0 ANO7 50636 broad.mit.edu 37 2 242139598 242139598 + Missense_Mutation SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr2:242139598C>T uc002wax.2 + 5 777 c.674C>T c.(673-675)cCc>cTc p.P225L NM_001001891 NP_001001891 Q6IWH7 ANO7_HUMAN Homo sapiens anoctamin 7 (ANO7), transcript variant NGEP-L, mRNA. 225 cell junction|chloride channel complex|cytosol chloride channel activity NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(14)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2) 32 GACGTACCCCCCGAGTACTAC 0.622000 23 10 0 0 0.010729 0 0 PSG3 5671 broad.mit.edu 37 19 43234162 43234162 + Silent SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr19:43234162C>T uc002oue.3 - 3 888 c.756G>A c.(754-756)agG>agA p.R252R PSG3_uc002ouf.3_Non-coding_Transcript|PSG3_uc002oug.1_Intron NM_021016 NP_066296 Q16557 PSG3_HUMAN Homo sapiens pregnancy specific beta-1-glycoprotein 3 (PSG3), mRNA. 252 Ig-like C2-type 2. defense response|female pregnancy extracellular region 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) CCTTATTCTCCCTGGGGTTTA 0.502000 169 32 0 0 0.014410 0 0 LTA 4049 broad.mit.edu 37 6 31541416 31541416 + Silent SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr6:31541416C>T uc011dnu.1 + 3 777 c.564C>T c.(562-564)atC>atT p.I188I LTA_uc003nue.1_Silent_p.I188I|LTA_uc003nuf.3_Intron|LTA_uc003nuh.3_Intron|LTA_uc003nug.3_Missense_Mutation_p.P98S|LTA_uc010jsr.3_Non-coding_Transcript|TNF_uc003nui.3_5'Flank|TNF_uc003nuj.3_5'Flank NM_001159740 NP_001153212 P01374 TNFB_HUMAN Homo sapiens lymphotoxin alpha (TNF superfamily, member 1) (LTA), transcript variant 1, mRNA. 188 cell-cell signaling|induction of apoptosis|signal transduction extracellular space|membrane cytokine activity|tumor necrosis factor receptor binding endometrium(2)|kidney(2)|lung(4)|upper_aerodigestive_tract(1) 9 Etanercept(DB00005) CAGATGGCATCCCCCACCTAG 0.517000 106 28 0 0 0.004878 0 0 WDR81 124997 broad.mit.edu 37 17 1631593 1631593 + Missense_Mutation SNP A G G TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr17:1631593A>G uc002ftj.2 + 0 3469 c.3340A>G c.(3340-3342)Acc>Gcc p.T1114A WDR81_uc002fth.2_Missense_Mutation_p.T63A|WDR81_uc010vqp.1_Intron|WDR81_uc002fti.2_Intron|WDR81_uc010vqq.1_5'Flank NM_001163809 NP_001157281 B3KXU1 B3KXU1_HUMAN Homo sapiens WD repeat domain 81 (WDR81), transcript variant 1, mRNA. 0 cervix(1)|endometrium(1)|kidney(3)|lung(6)|ovary(2)|prostate(2)|skin(1) 16 UCEC - Uterine corpus endometrioid carcinoma (25;0.0822) CAAGAGCAGCACCAGCGAGAC 0.642000 76 14 0 0 0.004007 0 0 KHDRBS2 202559 broad.mit.edu 37 6 62604713 62604713 + Missense_Mutation SNP G C C TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr6:62604713G>C uc003peg.2 - 5 884 c.637C>G c.(637-639)Ccc>Gcc p.P213A NM_152688 NP_689901 Q5VWX1 KHDR2_HUMAN Homo sapiens KH domain containing, RNA binding, signal transduction associated 2 (KHDRBS2), mRNA. 213 Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus SH3 domain binding NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 BRCA - Breast invasive adenocarcinoma(397;0.149) GGTGGTGGGGGAGGAGGAATG 0.547000 53 5 0 0 0.001168 0 0 SNAP25 6616 broad.mit.edu 37 20 10273890 10273890 + Missense_Mutation SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr20:10273890G>A uc002wnq.2 + 4 457 c.245G>A c.(244-246)gGa>gAa p.G82E SNAP25_uc002wnr.2_Intron|SNAP25_uc002wns.2_Missense_Mutation_p.G19E|SNAP25_uc010gca.2_Intron NM_130811 NP_570824 P60880 SNP25_HUMAN Homo sapiens synaptosomal-associated protein, 25kDa (SNAP25), transcript variant 2, mRNA. 82 energy reserve metabolic process|glutamate secretion|neurotransmitter uptake|synaptic vesicle docking involved in exocytosis cell junction|growth cone|perinuclear region of cytoplasm|synapse|synaptosome endometrium(1)|large_intestine(2)|lung(8)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 18 Botulinum Toxin Type A(DB00083) ACGGACCTAGGAAAATTCTGC 0.458000 47 12 0 0 0.013537 0 0 GPR98 84059 broad.mit.edu 37 5 89990217 89990217 + Missense_Mutation SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr5:89990217G>A uc003kju.3 + 32 7740 c.7644G>A c.(7642-7644)atG>atA p.M2548I GPR98_uc003kjt.3_Missense_Mutation_p.M254I|GPR98_uc003kjv.3_Missense_Mutation_p.M148I NM_032119 NP_115495 Q8WXG9 GPR98_HUMAN Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA. 2548 cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane G-protein coupled receptor activity|calcium ion binding NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6) 269 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) TTCACCTCATGAACATTTCAG 0.393000 95 16 0 0 0.004007 0 0 CHMP7 91782 broad.mit.edu 37 8 23117739 23117739 + Missense_Mutation SNP C A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr8:23117739C>A uc003xdc.2 + 9 1851 c.1203C>A c.(1201-1203)aaC>aaA p.N401K CHMP7_uc003xdd.2_Missense_Mutation_p.N291K|CHMP7_uc003xde.2_Missense_Mutation_p.T239N NM_152272 NP_689485 Q8WUX9 CHMP7_HUMAN Homo sapiens charged multivesicular body protein 7 (CHMP7), mRNA. 401 cellular membrane organization|late endosome to vacuole transport ESCRT III complex|cytosol protein transporter activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1) 11 Prostate(55;0.0513) Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632) TGCCTGACAACCCCCGCAATA 0.458000 75 18 0.000566183 0.000613856 0.004990 1 0 CACNA1I 8911 broad.mit.edu 37 22 40037035 40037035 + Missense_Mutation SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr22:40037035G>A uc003ayc.3 + 5 904 c.904G>A c.(904-906)Gac>Aac p.D302N CACNA1I_uc003ayd.3_Missense_Mutation_p.D302N|CACNA1I_uc003aye.3_Missense_Mutation_p.D217N|CACNA1I_uc003ayf.3_Missense_Mutation_p.D217N NM_021096 NP_066919 Q9P0X4 CAC1I_HUMAN Homo sapiens calcium channel, voltage-dependent, T type, alpha 1I subunit (CACNA1I), transcript variant 1, mRNA. 302 axon guidance|signal transduction voltage-gated calcium channel complex low voltage-gated calcium channel activity|protein binding p.D302V(1) breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 60 Melanoma(58;0.0749) Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661) CGACGTCTACGACTTTGGGGC 0.632000 68 22 0 0 0.003954 0 0 BMPER 168667 broad.mit.edu 37 7 34118710 34118710 + Nonsense_Mutation SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr7:34118710G>A uc011kap.2 + 12 1694 c.1320G>A c.(1318-1320)tgG>tgA p.W440* NM_133468 NP_597725 Q8N8U9 BMPER_HUMAN Homo sapiens BMP binding endothelial regulator (BMPER), mRNA. 440 VWFD. blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation extracellular space p.R439C(1) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 CCGTGCGCTGGAACGGCTCGC 0.667000 62 18 0 0 0.012319 0 0 ALPK2 115701 broad.mit.edu 37 18 56184167 56184167 + Silent SNP G A A rs61732436 TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr18:56184167G>A uc002lhj.4 - 8 6127 c.5913C>T c.(5911-5913)atC>atT p.I1971I NM_052947 NP_443179 Q86TB3 ALPK2_HUMAN Homo sapiens alpha-kinase 2 (ALPK2), mRNA. 1971 Alpha-type protein kinase. ATP binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2) 84 AGTTCCTTTGGATGAGCTCAT 0.502000 133 25 0 0 0.006320 0 0 CAPN6 827 broad.mit.edu 37 X 110494857 110494857 + Silent SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chrX:110494857G>A uc004epc.2 - 5 1004 c.813C>T c.(811-813)gtC>gtT p.V271V CAPN6_uc011msu.2_Silent_p.V16V NM_014289 NP_055104 Q9Y6Q1 CAN6_HUMAN Homo sapiens calpain 6 (CAPN6), mRNA. 271 Calpain catalytic. 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 CAGCACTGAAGACTTCCACAA 0.478000 128 77 0 0 0.014410 0 0 LPPR1 54886 broad.mit.edu 37 9 104079760 104079760 + Silent SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr9:104079760G>A uc004bbb.3 + 6 1326 c.927G>A c.(925-927)ctG>ctA p.L309L LPPR1_uc011lvi.2_Silent_p.L285L|LPPR1_uc004bbc.3_Silent_p.L309L|LPPR1_uc010mtc.3_Silent_p.L293L NM_207299 NP_997182 Q8TBJ4 LPPR1_HUMAN Homo sapiens lipid phosphate phosphatase-related protein type 1 (LPPR1), transcript variant 1, mRNA. 309 integral to membrane catalytic activity AAAGCCCTCTGGAAACCTTAA 0.458000 126 29 0 0 0.008361 0 0 RBFOX1 54715 broad.mit.edu 37 16 7703888 7703888 + Missense_Mutation SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr16:7703888C>T uc002cys.2 + 11 1817 c.829C>T c.(829-831)Cgc>Tgc p.R277C RBFOX1_uc010buf.1_Missense_Mutation_p.R277C|RBFOX1_uc002cyr.1_Missense_Mutation_p.R276C|RBFOX1_uc002cyt.2_Missense_Mutation_p.R250C|RBFOX1_uc010uxz.1_Missense_Mutation_p.R320C|RBFOX1_uc010uya.1_Missense_Mutation_p.R234C|RBFOX1_uc002cyv.1_Missense_Mutation_p.R277C|RBFOX1_uc010uyb.1_Missense_Mutation_p.R277C|RBFOX1_uc002cyw.2_Missense_Mutation_p.R297C|RBFOX1_uc002cyy.2_Missense_Mutation_p.R297C|RBFOX1_uc002cyx.2_Missense_Mutation_p.R297C|RBFOX1_uc010uyc.1_Missense_Mutation_p.R270C NM_018723 NP_061193 Q9NWB1 RFOX1_HUMAN Homo sapiens RNA binding protein, fox-1 homolog (C. elegans) 1 (RBFOX1), transcript variant 4, mRNA. 277 RNA splicing|RNA transport|mRNA processing nucleus|trans-Golgi network RNA binding|nucleotide binding|protein C-terminus binding breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2) 55 AGGCCGCGGTCGCACCGTGTA 0.731000 40 9 0 0 0.004482 0 0 TRPM6 140803 broad.mit.edu 37 9 77376996 77376996 + Missense_Mutation SNP G A A rs141526694 byFrequency TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr9:77376996G>A uc004ajl.1 - 25 4829 c.4591C>T c.(4591-4593)Cgc>Tgc p.R1531C TRPM6_uc004ajk.1_Missense_Mutation_p.R1526C|TRPM6_uc022bib.1_Missense_Mutation_p.R1526C|TRPM6_uc010mpb.1_Non-coding_Transcript|TRPM6_uc010mpc.1_Intron|TRPM6_uc010mpd.1_Intron|TRPM6_uc010mpe.1_Intron|TRPM6_uc004ajj.1_Missense_Mutation_p.R487C NM_017662 NP_060132 Q9BX84 TRPM6_HUMAN Homo sapiens transient receptor potential cation channel, subfamily M, member 6 (TRPM6), transcript variant a, mRNA. 1531 response to toxin integral to membrane ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 126 CTGTATCTGCGGAGAGGATTG 0.423000 57 17 0 0 0.004990 0 0 MGAM 8972 broad.mit.edu 37 7 141760126 141760126 + Missense_Mutation SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr7:141760126C>T uc003vwy.3 + 33 4129 c.4075C>T c.(4075-4077)Cct>Tct p.P1359S NM_004668 NP_004659 O43451 MGA_HUMAN Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA. 1359 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) GCCTGATTTTCCTGATGTTGT 0.438000 36 7 0 0 0.001984 0 0 PCDHB12 56124 broad.mit.edu 37 5 140589876 140589876 + Missense_Mutation SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr5:140589876C>T uc003liz.3 + 0 1586 c.1397C>T c.(1396-1398)cCc>cTc p.P466L PCDHB12_uc011dak.2_Missense_Mutation_p.P129L NM_018932 NP_061755 Q9Y5F1 PCDBC_HUMAN Homo sapiens protocadherin beta 12 (PCDHB12), mRNA. 466 Cadherin 5. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding p.P466P(1) 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) AACAACAGCCCCGCCCTGCAC 0.637000 84 12 0 0 0.002450 0 0 RBMY1A3P 286557 broad.mit.edu 37 Y 9160425 9160425 + RNA SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chrY:9160425C>T uc004frl.1 - 0 c.59G>A Homo sapiens RNA binding motif protein, Y-linked, family 1, member A3 pseudogene (RBMY1A3P), non-coding RNA. TCTCATTGGTCTCTCTATTGA 0.383000 37 5 0 0 0.000602 0 0 CLDN4 1364 broad.mit.edu 37 7 73245833 73245833 + Missense_Mutation SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr7:73245833G>A uc003tzi.4 + 0 641 c.302G>A c.(301-303)gGg>gAg p.G101E CLDN4_uc003tzh.1_Non-coding_Transcript NM_001305 NP_001296 O14493 CLD4_HUMAN Homo sapiens claudin 4 (CLDN4), mRNA. 101 calcium-independent cell-cell adhesion integral to plasma membrane|tight junction identical protein binding|structural molecule activity|transmembrane receptor activity kidney(2)|lung(4)|urinary_tract(1) 7 Lung NSC(55;0.159) TCCGTGGTGGGGGGCAAGTGT 0.642000 48 14 0 0 0.001855 0 0 TBL1Y 90665 broad.mit.edu 37 Y 6948886 6948886 + Missense_Mutation SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chrY:6948886G>A uc004frb.3 + 13 1716 c.1069G>A c.(1069-1071)Gga>Aga p.G357R TBL1Y_uc004frc.3_Missense_Mutation_p.G357R|TBL1Y_uc004frd.3_Missense_Mutation_p.G357R|TBL1Y_uc011nap.2_Missense_Mutation_p.G199R NM_033284 NP_599021 Q9BQ87 TBL1Y_HUMAN Homo sapiens transducin (beta)-like 1, Y-linked (TBL1Y), transcript variant 1, mRNA. 357 transcription, DNA-dependent kidney(1)|large_intestine(4)|lung(2)|skin(1) 8 AACCTTCCAGGGACACACAGT 0.488000 9 11 0 0 0.010729 0 0 KCNJ10 3766 broad.mit.edu 37 1 160012148 160012148 + Missense_Mutation SNP A G G TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr1:160012148A>G uc001fuw.2 - 1 415 c.175T>C c.(175-177)Ttc>Ctc p.F59L NM_002241 NP_002232 P78508 IRK10_HUMAN Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 10 (KCNJ10), mRNA. 59 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) ATGTCAATGAAGGTTGTCCAC 0.547000 115 24 0 0 0.003954 0 0 SLC16A9 220963 broad.mit.edu 37 10 61413501 61413501 + Missense_Mutation SNP A G G TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr10:61413501A>G uc010qig.1 - 4 1732 c.1283T>C c.(1282-1284)tTa>tCa p.L428S NM_194298 NP_919274 Q7RTY1 MOT9_HUMAN Homo sapiens solute carrier family 16, member 9 (monocarboxylic acid transporter 9) (SLC16A9), mRNA. 428 urate metabolic process integral to membrane|plasma membrane symporter activity kidney(3)|large_intestine(5)|lung(5)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 23 GGCATGGGCTAATTTTTCAAT 0.403000 36 12 0 0 0.013537 0 0 PCDH15 65217 broad.mit.edu 37 10 55626446 55626446 + Missense_Mutation SNP T C C rs61731381 byFrequency TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr10:55626446T>C uc010qhy.1 - 27 4083 c.3688A>G c.(3688-3690)Act>Gct p.T1230A PCDH15_uc010qhq.2_Missense_Mutation_p.T1230A|PCDH15_uc010qhr.2_Missense_Mutation_p.T1225A|PCDH15_uc021pqv.1_Missense_Mutation_p.T1225A|PCDH15_uc021pqw.1_Missense_Mutation_p.T1237A|PCDH15_uc010qht.2_Missense_Mutation_p.T1232A|PCDH15_uc021pqx.1_Missense_Mutation_p.T1225A|PCDH15_uc001jjv.1_Intron|PCDH15_uc021pqy.1_Missense_Mutation_p.T1225A|PCDH15_uc021pqz.1_Missense_Mutation_p.T1203A|PCDH15_uc010qhv.1_Missense_Mutation_p.T1225A|PCDH15_uc010qhw.1_Missense_Mutation_p.T1188A|PCDH15_uc010qhx.1_Missense_Mutation_p.T1154A|PCDH15_uc010qhz.1_Missense_Mutation_p.T1225A|PCDH15_uc010qia.1_Missense_Mutation_p.T1203A|PCDH15_uc001jju.1_Missense_Mutation_p.T1225A|PCDH15_uc010qib.1_Missense_Mutation_p.T1203A NM_001142763 NP_001136235 Q96QU1 PCD15_HUMAN Homo sapiens protocadherin-related 15 (PCDH15), transcript variant A, mRNA. 1225 Cadherin 11. 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) TAGTCGTCAGTTGCAATAACT 0.413000 HNSCC(58;0.16) 33 10 0 0 0.006214 0 0 ANK3 288 broad.mit.edu 37 10 61834088 61834088 + Missense_Mutation SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr10:61834088G>A uc001jky.3 - 36 6889 c.6551C>T c.(6550-6552)cCc>cTc p.P2184L ANK3_uc001jkw.3_Intron|ANK3_uc009xpa.3_Intron|ANK3_uc001jkx.3_Intron|ANK3_uc010qih.2_Intron|ANK3_uc001jkz.4_Intron|ANK3_uc001jkv.3_Intron|ANK3_uc009xpb.1_Intron NM_020987 NP_066267 Q12955 ANK3_HUMAN Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA. 2184 establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 196 TTGGGTCTGGGGAACATCCCC 0.448000 108 20 0 0 0.007413 0 0 PLXNA1 5361 broad.mit.edu 37 3 126749212 126749212 + Nonsense_Mutation SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr3:126749212C>T uc003ejg.3 + 27 5188 c.5188C>T c.(5188-5190)Cag>Tag p.Q1730* PLXNA1_uc003ejh.3_Nonsense_Mutation_p.Q375* NM_032242 NP_115618 Q9UIW2 PLXA1_HUMAN Homo sapiens plexin A1 (PLXNA1), mRNA. 1730 axon guidance integral to membrane|intracellular|plasma membrane semaphorin receptor activity breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 67 GBM - Glioblastoma multiforme(114;0.155) CGACAAGCACCAGATCCACGA 0.622000 89 15 0 0 0.002450 0 0 UGT2B17 7367 broad.mit.edu 37 4 69433848 69433848 + Missense_Mutation SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr4:69433848C>T uc021xov.1 - 0 398 c.355G>A c.(355-357)Gaa>Aaa p.E119K NM_001077 NP_001068 O75795 UDB17_HUMAN Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B17 (UGT2B17), mRNA. 119 steroid metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity p.E119K(2) central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(14)|ovary(2)|prostate(1) 30 TCAGAATATTCCCAACACAAT 0.294000 53 18 0 0 0.008871 0 0 CNGB3 54714 broad.mit.edu 37 8 87755845 87755845 + Missense_Mutation SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr8:87755845G>A uc003ydx.3 - 0 59 c.11C>T c.(10-12)tCg>tTg p.S4L NM_019098 NP_061971 Q9NQW8 CNGB3_HUMAN Homo sapiens cyclic nucleotide gated channel beta 3 (CNGB3), mRNA. 4 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 TTTTGTCAGCGATTTAAACAT 0.393000 49 12 0 0 0.003163 0 0 FCAR 2204 broad.mit.edu 37 19 55396759 55396759 + Missense_Mutation SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr19:55396759G>A uc002qhr.1 + 2 380 c.183G>A c.(181-183)atG>atA p.M61I FCAR_uc021vbp.1_Non-coding_Transcript|FCAR_uc002qhq.3_Missense_Mutation_p.M61I|FCAR_uc002qhs.1_Non-coding_Transcript|FCAR_uc002qht.1_Missense_Mutation_p.M34I|FCAR_uc010esi.1_Missense_Mutation_p.M34I|FCAR_uc002qhu.1_Missense_Mutation_p.M61I|FCAR_uc002qhv.1_Missense_Mutation_p.M61I|FCAR_uc002qhw.1_Missense_Mutation_p.M49I|FCAR_uc002qhx.1_Missense_Mutation_p.M49I|FCAR_uc002qhy.1_Missense_Mutation_p.M49I|FCAR_uc002qhz.1_Missense_Mutation_p.M49I|FCAR_uc002qia.1_Intron NM_002000 NP_001991 P24071 FCAR_HUMAN Homo sapiens Fc fragment of IgA, receptor for (FCAR), transcript variant 1, mRNA. 61 Ig-like C2-type 1. immune response extracellular region|integral to plasma membrane IgA binding|receptor activity p.M61I(3) breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(2) 24 GBM - Glioblastoma multiforme(193;0.0443) CCCAGCTGATGATCATAAAAA 0.468000 60 14 0 0 0.002450 0 0 ADAP2 55803 broad.mit.edu 37 17 29283298 29283298 + Nonsense_Mutation SNP G T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr17:29283298G>T uc010csk.3 + 9 1219 c.940G>T c.(940-942)Gag>Tag p.E314* ADAP2_uc002hfy.3_Nonsense_Mutation_p.E307*|ADAP2_uc010csl.3_Non-coding_Transcript|ADAP2_uc002hfx.3_Nonsense_Mutation_p.E308* NM_018404 NP_060874 Q9NPF8 ADAP2_HUMAN Homo sapiens ArfGAP with dual PH domains 2 (ADAP2), mRNA. 308 PH 2. heart development|regulation of ARF GTPase activity mitochondrial envelope|plasma membrane ARF GTPase activator activity|inositol 1,3,4,5 tetrakisphosphate binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding, bridging|zinc ion binding p.?(1) breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1) 13 TGGGAACAAGGAGCAGGGATA 0.582000 36 10 1.08611e-07 1.18654e-07 0.010729 1 0 TRPM5 29850 broad.mit.edu 37 11 2443414 2443414 + Silent SNP C G G TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr11:2443414C>G uc010qxl.2 - 1 264 c.255G>C c.(253-255)cgG>cgC p.R85R TRPM5_uc001lwm.4_Silent_p.R85R|TRPM5_uc009ydn.3_Silent_p.R85R NM_014555 NP_055370 Q9NZQ8 TRPM5_HUMAN Homo sapiens transient receptor potential cation channel, subfamily M, member 5 (TRPM5), mRNA. 85 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) GCAGCACATCCCGCAGCCAGG 0.682000 175 26 0 0 0.005443 0 0 CALB1 793 broad.mit.edu 37 8 91090658 91090658 + Missense_Mutation SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr8:91090658C>T uc003yel.1 - 2 356 c.174G>A c.(172-174)atG>atA p.M58I CALB1_uc003yem.1_Non-coding_Transcript|CALB1_uc011lge.1_Missense_Mutation_p.M1I NM_004929 NP_004920 P05937 CALB1_HUMAN Homo sapiens calbindin 1, 28kDa (CALB1), mRNA. 58 EF-hand 2. nucleus calcium ion binding|vitamin D binding breast(1)|kidney(1)|lung(8)|pancreas(1) 11 BRCA - Breast invasive adenocarcinoma(11;0.00953) CAAAAGTTTTCATTTCAGGTG 0.299000 110 15 0 0 0.004990 0 0 FN1 2335 broad.mit.edu 37 2 216232655 216232655 + Missense_Mutation SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr2:216232655C>T uc002vfa.3 - 41 7215 c.6949G>A c.(6949-6951)Gaa>Aaa p.E2317K FN1_uc002vfc.3_Missense_Mutation_p.E2080K|FN1_uc002vfe.3_Missense_Mutation_p.E2195K|FN1_uc002vff.3_Missense_Mutation_p.E2170K|FN1_uc002vfg.3_Missense_Mutation_p.E2136K|FN1_uc002vfh.3_Missense_Mutation_p.E2016K|FN1_uc002vfi.3_Missense_Mutation_p.E2286K|FN1_uc002vfj.3_Missense_Mutation_p.E2107K|FN1_uc002vfb.3_Missense_Mutation_p.E2105K|FN1_uc002vez.3_Missense_Mutation_p.E480K|FN1_uc010zjp.2_Missense_Mutation_p.E854K|FN1_uc002vfk.1_Intron|FN1_uc010fva.1_Non-coding_Transcript|FN1_uc010fvb.1_Non-coding_Transcript NM_212482 NP_997647 P02751 FINC_HUMAN Homo sapiens fibronectin 1 (FN1), transcript variant 1, mRNA. 2226 Fibrin-binding 2.|Fibronectin type-I 12. 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) AAGCCTGATTCAGACATTCGT 0.463000 44 9 0 0 0.004482 0 0 SNTB1 6641 broad.mit.edu 37 8 121644785 121644785 + Missense_Mutation SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr8:121644785C>T uc010mdg.3 - 2 1121 c.895G>A c.(895-897)Gac>Aac p.D299N SNTB1_uc003ype.3_Missense_Mutation_p.D299N NM_021021 NP_066301 Q13884 SNTB1_HUMAN Homo sapiens syntrophin, beta 1 (dystrophin-associated protein A1, 59kDa, basic component 1) (SNTB1), mRNA. 299 muscle contraction cell junction|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|sarcolemma actin binding|calmodulin binding NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(6) 24 Lung NSC(37;4.46e-09)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997) STAD - Stomach adenocarcinoma(47;0.00503) GTCAGCAGGTCATTAACGTTG 0.537000 44 4 0 0 0.009096 0 0 ZNF518B 85460 broad.mit.edu 37 4 10447100 10447100 + Nonsense_Mutation SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr4:10447100G>A uc003gmn.3 - 2 1340 c.853C>T c.(853-855)Caa>Taa p.Q285* ZNF518B_uc021xme.1_Nonsense_Mutation_p.Q285* NM_053042 NP_444270 Q9C0D4 Z518B_HUMAN Homo sapiens zinc finger protein 518B (ZNF518B), mRNA. 285 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 ACATCTTTTTGGTATTCCTTT 0.353000 128 26 0 0 0.003330 0 0 TSHZ2 128553 broad.mit.edu 37 20 51870470 51870470 + Missense_Mutation SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr20:51870470G>A uc002xwo.3 + 1 1360 c.473G>A c.(472-474)cGa>cAa p.R158Q TSHZ2_uc021wex.1_Missense_Mutation_p.R155Q NM_173485 NP_775756 Q9NRE2 TSH2_HUMAN Homo sapiens teashirt zinc finger homeobox 2 (TSHZ2), transcript variant 1, mRNA. 158 multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.R158R(1) NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 84 STAD - Stomach adenocarcinoma(23;0.1) TGTGACACCCGAAACGGCAGC 0.547000 86 12 0 0 0.010729 0 0 AKAP13 11214 broad.mit.edu 37 15 86284370 86284370 + Missense_Mutation SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr15:86284370C>T uc002blv.1 + 34 7872 c.7702C>T c.(7702-7704)Ctc>Ttc p.L2568F AKAP13_uc002blu.1_Missense_Mutation_p.L2572F|AKAP13_uc002blw.1_Missense_Mutation_p.L1033F|AKAP13_uc002blx.1_Missense_Mutation_p.L813F NM_007200 NP_009131 Q12802 AKP13_HUMAN Homo sapiens A kinase (PRKA) anchor protein 13 (AKAP13), transcript variant 2, mRNA. 2568 Interaction with ESR1. 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|membrane|membrane fraction|nucleus Rho guanyl-nucleotide exchange factor activity|cAMP-dependent protein kinase activity|metal ion binding|protein binding|signal transducer activity NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 98 CCCGAGCTCCCTCATTGAGCA 0.642000 21 4 0 0 0.009096 0 0 ANO8 57719 broad.mit.edu 37 19 17444280 17444280 + Missense_Mutation SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr19:17444280G>A uc002ngf.2 - 2 460 c.301C>T c.(301-303)Cac>Tac p.H101Y ANO8_uc010eap.2_Non-coding_Transcript|GTPBP3_uc010xpo.2_5'Flank NM_020959 NP_066010 Q9HCE9 ANO8_HUMAN Homo sapiens anoctamin 8 (ANO8), mRNA. 101 chloride channel complex chloride channel activity autonomic_ganglia(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(3) 27 GTGTGGCGGTGGTGGCGGACT 0.657000 112 17 0 0 0.008871 0 0 OR5L2 26338 broad.mit.edu 37 11 55594874 55594874 + Silent SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr11:55594874C>T uc001nhy.1 + 0 180 c.180C>T c.(178-180)taC>taT p.Y60Y NM_001004739 NP_001004739 Q8NGL0 OR5L2_HUMAN Homo sapiens olfactory receptor, family 5, subfamily L, member 2 (OR5L2), mRNA. 60 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.V59M(1) breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 59 all_epithelial(135;0.208) CCCCCGTGTACTTTTTCCTCA 0.463000 HNSCC(27;0.073) 188 32 0 0 0.004289 0 0 MALT1 10892 broad.mit.edu 37 18 56390422 56390422 + Silent SNP T G G TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr18:56390422T>G uc002lhm.1 + 9 1419 c.1161T>G c.(1159-1161)acT>acG p.T387T MALT1_uc002lhn.1_Silent_p.T376T NM_006785 NP_006776 Q9UDY8 MALT1_HUMAN Homo sapiens mucosa associated lymphoid tissue lymphoma translocation gene 1 (MALT1), transcript variant 1, mRNA. 387 Caspase-like. T cell receptor signaling pathway|activation of NF-kappaB-inducing kinase activity|anti-apoptosis|nuclear export|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|positive regulation of interleukin-2 production|positive regulation of phosphorylation|positive regulation of protein ubiquitination|protein oligomerization|proteolysis CBM complex|cytosol|nucleus|perinuclear region of cytoplasm cysteine-type endopeptidase activity|protein self-association|signal transducer activity|ubiquitin-protein ligase activity central_nervous_system(1)|large_intestine(7)|lung(1)|ovary(2)|skin(1) 12 TGGATCTTACTGAATATGAGA 0.383000 T BIRC3 MALT 52 7 0 0 0.004482 0 0 RUNDC3B 154661 broad.mit.edu 37 7 87280199 87280199 + Missense_Mutation SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr7:87280199G>A uc003ujb.3 + 1 595 c.184G>A c.(184-186)Gaa>Aaa p.E62K ABCB1_uc003uiz.2_Intron|ABCB1_uc003uja.2_Intron|ABCB1_uc010lei.2_Intron|RUNDC3B_uc011khd.1_Missense_Mutation_p.E62K|RUNDC3B_uc011khe.2_Missense_Mutation_p.E62K|RUNDC3B_uc003ujc.3_Missense_Mutation_p.E62K NM_138290 NP_612147 Q96NL0 RUN3B_HUMAN Homo sapiens RUN domain containing 3B (RUNDC3B), transcript variant 1, mRNA. 62 RUN. breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(2) 26 Esophageal squamous(14;0.00164) TTCTTCTCCTGAATTTAACAA 0.353000 33 8 0 0 0.006214 0 0 MRO 83876 broad.mit.edu 37 18 48327733 48327733 + Missense_Mutation SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr18:48327733G>A uc010dpa.3 - 4 762 c.613C>T c.(613-615)Ccc>Tcc p.P205S MRO_uc010xdn.2_Intron|MRO_uc002lew.4_Missense_Mutation_p.P191S|MRO_uc010dpb.3_Intron|MRO_uc010dpc.3_Intron|MRO_uc002lex.4_Missense_Mutation_p.P191S NM_001127176 NP_001120648 Q9BYG7 MSTRO_HUMAN Homo sapiens maestro (MRO), transcript variant 4, mRNA. 191 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) GCAACCTGGGGATTTCTGTCC 0.488000 155 26 0 0 0.006320 0 0 DZIP1L 199221 broad.mit.edu 37 3 137822773 137822773 + Missense_Mutation SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr3:137822773G>A uc003erq.3 - 1 404 c.41C>T c.(40-42)cCc>cTc p.P14L DZIP1L_uc003err.1_Missense_Mutation_p.P14L NM_173543 NP_775814 Q8IYY4 DZI1L_HUMAN Homo sapiens DAZ interacting protein 1-like (DZIP1L), transcript variant 1, mRNA. 14 intracellular zinc ion binding p.G13D(1) breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(2)|prostate(1)|skin(1) 35 CCCAAAGAGGGGGCCACTGAG 0.632000 155 28 0 0 0.007291 0 0 FAT3 120114 broad.mit.edu 37 11 92430568 92430568 + Missense_Mutation SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr11:92430568C>T uc001pdj.4 + 2 3643 c.3626C>T c.(3625-3627)tCa>tTa p.S1209L NM_001008781 NP_001008781 Q8TDW7 FAT3_HUMAN Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA. 1209 Cadherin 11. 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) ACAACAACTTCAAGGAAATTG 0.378000 TCGA Ovarian(4;0.039) 180 66 0 0 0.014410 0 0 SYCP1 6847 broad.mit.edu 37 1 115527431 115527431 + Missense_Mutation SNP G A A rs147186440 TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr1:115527431G>A uc001efr.3 + 29 2854 c.2645G>A c.(2644-2646)aGa>aAa p.R882K SYCP1_uc010owt.2_Non-coding_Transcript|SYCP1_uc001efq.3_Missense_Mutation_p.R882K|SYCP1_uc009wgw.3_Missense_Mutation_p.R857K NM_003176 NP_003167 Q15431 SYCP1_HUMAN Homo sapiens synaptonemal complex protein 1 (SYCP1), mRNA. 882 cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly DNA binding p.K881fs*21(1) 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) AAAAAAAAGAGAAAAATGGCC 0.254000 76 6 0 0 0.001168 0 0 EPHA3 2042 broad.mit.edu 37 3 89478279 89478279 + Missense_Mutation SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr3:89478279G>A uc003dqy.3 + 11 2323 c.2098G>A c.(2098-2100)Gaa>Aaa p.E700K EPHA3_uc021xbf.1_Missense_Mutation_p.E700K NM_005233 NP_005224 P29320 EPHA3_HUMAN Homo sapiens EPH receptor A3 (EPHA3), transcript variant 1, mRNA. 700 Protein kinase. extracellular region|integral to plasma membrane ATP binding NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5) 139 all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612) Lung NSC(201;0.0782) LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942) GATTGTCACAGAATACATGGA 0.303000 TSP Lung(6;0.00050) 52 8 0 0 0.006214 0 0 PCLO 27445 broad.mit.edu 37 7 82582184 82582184 + Silent SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr7:82582184G>A uc003uhx.2 - 4 8374 c.8085C>T c.(8083-8085)tcC>tcT p.S2695S PCLO_uc003uhv.2_Silent_p.S2695S|PCLO_uc010lec.3_5'Flank NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA. 2626 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 GAATTGTTATGGAAATGCTGC 0.413000 50 12 0 0 0.010729 0 0 KCNH2 3757 broad.mit.edu 37 7 150645619 150645619 + Missense_Mutation SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr7:150645619G>A uc003wic.3 - 10 3006 c.2605C>T c.(2605-2607)Ccg>Tcg p.P869S KCNH2_uc003wib.3_Missense_Mutation_p.P529S|KCNH2_uc011kux.2_Missense_Mutation_p.P773S NM_000238 NP_000229 Q12809 KCNH2_HUMAN Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 2 (KCNH2), transcript variant 1, mRNA. 869 blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent voltage-gated potassium channel complex delayed rectifier potassium channel activity|two-component sensor activity NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1) 42 all_neural(206;0.219) OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661) GGGGAGCCCGGGATCATGTTG 0.607000 31 6 0 0 0.001984 0 0 DPY19L2P1 554236 broad.mit.edu 37 7 35131475 35131475 + Missense_Mutation SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr7:35131475C>T uc003teq.1 - 19 2218 c.1111G>A c.(1111-1113)Gaa>Aaa p.E371K DPY19L2P1_uc003tep.1_Non-coding_Transcript|DPY19L2P1_uc010kwz.1_Non-coding_Transcript Homo sapiens dpy-19-like 2 pseudogene 1 (C. elegans) (DPY19L2P1), non-coding RNA. TCTGCATCTTCGTAAAGTGGA 0.433000 67 16 0 0 0.004990 0 0 AIM1 202 broad.mit.edu 37 6 106968334 106968334 + Missense_Mutation SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr6:106968334C>T uc003prh.3 + 1 2939 c.2027C>T c.(2026-2028)cCt>cTt p.P676L NM_001624 NP_001615 Q9Y4K1 AIM1_HUMAN Homo sapiens absent in melanoma 1 (AIM1), mRNA. 676 sugar binding breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 69 Breast(9;0.0138)|all_epithelial(6;0.169) all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473) Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305) all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858) CAGGATAGCCCTGCCAGCCTT 0.438000 48 5 0 0 0.000602 0 0 MCTP2 55784 broad.mit.edu 37 15 95020022 95020022 + Splice_Site SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr15:95020022G>A uc002btj.3 + 21 2633 c.2568_splice c.e21+1 p.K856_splice MCTP2_uc010boj.3_Splice_Site_p.K585_splice|MCTP2_uc010bok.3_Splice_Site_p.K801_splice|MCTP2_uc002btl.3_Splice_Site_p.K444_splice NM_018349 NP_060819 Q6DN12 MCTP2_HUMAN Homo sapiens multiple C2 domains, transmembrane 2 (MCTP2), transcript variant 1, mRNA. 856 calcium-mediated signaling integral to membrane|membrane fraction calcium ion binding autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2) 49 Lung NSC(78;0.0821)|all_lung(78;0.148) BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593) ATGTTCAAAAGGTATGTAATG 0.448000 55 9 0 0 0.006214 0 0 CNBD1 168975 broad.mit.edu 37 8 88249161 88249161 + Missense_Mutation SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr8:88249161G>A uc003ydy.2 + 5 640 c.592G>A c.(592-594)Gga>Aga p.G198R NM_173538 NP_775809 Q8NA66 CNBD1_HUMAN Homo sapiens cyclic nucleotide binding domain containing 1 (CNBD1), mRNA. 198 p.G198E(1) breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(4)|urinary_tract(1) 32 TGCAAATGATGGATTTTATGT 0.348000 63 20 0 0 0.012319 0 0 CERS6 253782 broad.mit.edu 37 2 169312971 169312971 + Silent SNP T C C TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr2:169312971T>C uc002uec.1 + 0 137 c.13T>C c.(13-15)Tta>Cta p.L5L CERS6_uc002ueb.1_Silent_p.L5L NM_203463 NP_982288 Q6ZMG9 CERS6_HUMAN Homo sapiens ceramide synthase 6 (CERS6), transcript variant 2, mRNA. 5 endoplasmic reticulum membrane|integral to membrane|nuclear membrane sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity GGCAGGGATCTTAGCCTGGTT 0.667000 48 10 0 0 0.010729 0 0 C2orf42 54980 broad.mit.edu 37 2 70387889 70387889 + Nonsense_Mutation SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr2:70387889G>A uc002sgh.3 - 8 1712 c.1384C>T c.(1384-1386)Cag>Tag p.Q462* NM_017880 NP_060350 Q9NWW7 CB042_HUMAN Homo sapiens chromosome 2 open reading frame 42 (C2orf42), mRNA. 462 endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1) 12 TCTCGGTTCTGGATAAAGCTA 0.428000 39 6 0 0 0.001984 0 0 PCDH15 65217 broad.mit.edu 37 10 55698700 55698700 + Missense_Mutation SNP T A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr10:55698700T>A uc010qhy.1 - 25 3658 c.3263A>T c.(3262-3264)aAt>aTt p.N1088I PCDH15_uc010qhq.2_Missense_Mutation_p.N1088I|PCDH15_uc010qhr.2_Missense_Mutation_p.N1083I|PCDH15_uc021pqv.1_Missense_Mutation_p.N1083I|PCDH15_uc021pqw.1_Missense_Mutation_p.N1095I|PCDH15_uc010qht.2_Missense_Mutation_p.N1090I|PCDH15_uc021pqx.1_Missense_Mutation_p.N1083I|PCDH15_uc001jjv.1_Intron|PCDH15_uc021pqy.1_Missense_Mutation_p.N1083I|PCDH15_uc021pqz.1_Missense_Mutation_p.N1061I|PCDH15_uc010qhv.1_Missense_Mutation_p.N1083I|PCDH15_uc010qhw.1_Missense_Mutation_p.N1046I|PCDH15_uc010qhx.1_Missense_Mutation_p.N1012I|PCDH15_uc010qhz.1_Missense_Mutation_p.N1083I|PCDH15_uc010qia.1_Missense_Mutation_p.N1061I|PCDH15_uc001jju.1_Missense_Mutation_p.N1083I|PCDH15_uc010qib.1_Missense_Mutation_p.N1061I NM_001142763 NP_001136235 Q96QU1 PCD15_HUMAN Homo sapiens protocadherin-related 15 (PCDH15), transcript variant A, mRNA. 1083 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) TGTGATGTTATTAATTCCAAA 0.363000 HNSCC(58;0.16) 54 5 0 0 0.001168 0 0 NRSN2 80023 broad.mit.edu 37 20 333860 333860 + Silent SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr20:333860C>T uc002wdi.4 + 3 734 c.196C>T c.(196-198)Ctg>Ttg p.L66L NM_024958 NP_079234 Q9GZP1 NRSN2_HUMAN Homo sapiens neurensin 2 (NRSN2), mRNA. 66 integral to membrane|plasma membrane|transport vesicle endometrium(1)|large_intestine(2)|lung(4)|urinary_tract(1) 8 all_cancers(10;0.0834) CTAGATCAGCCTGTCCTCGGG 0.617000 100 22 0 0 0.002780 0 0 LY6G6C 80740 broad.mit.edu 37 6 31686915 31686915 + Silent SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr6:31686915G>A uc003nwh.3 - 2 391 c.336C>T c.(334-336)ttC>ttT p.F112F LY6G6C_uc010jtd.3_Non-coding_Transcript NM_025261 NP_079537 O95867 LY66C_HUMAN Homo sapiens lymphocyte antigen 6 complex, locus G6C (LY6G6C), mRNA. 112 anchored to membrane|plasma membrane NS(1)|large_intestine(1)|lung(1)|skin(1) 4 AGGAGGTAAGGAAGACAAGGC 0.617000 431 101 0 0 0.014410 0 0 RORB 6096 broad.mit.edu 37 9 77257548 77257548 + Missense_Mutation SNP T G G TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr9:77257548T>G uc004aji.3 + 3 536 c.487T>G c.(487-489)Tct>Gct p.S163A RORB_uc004ajh.3_Missense_Mutation_p.S152A NM_006914 NP_008845 Q92753 RORB_HUMAN Homo sapiens RAR-related orphan receptor B (RORB), mRNA. 163 Hinge (Potential). eye photoreceptor cell development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|visual perception nucleoplasm sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding breast(2)|large_intestine(4)|lung(1)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 12 CCTGCCCAAGTCTGAGGGTTA 0.517000 45 10 0 0 0.006214 0 0 RNH1 6050 broad.mit.edu 37 11 498091 498091 + Missense_Mutation SNP A T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr11:498091A>T uc001lpk.1 - 6 2415 c.1007T>A c.(1006-1008)gTg>gAg p.V336E RNH1_uc001lpl.1_Missense_Mutation_p.V336E|RNH1_uc001lpm.1_Missense_Mutation_p.V336E|RNH1_uc001lpn.1_Missense_Mutation_p.V336E|RNH1_uc001lpo.1_Missense_Mutation_p.V336E|RNH1_uc001lpp.2_Missense_Mutation_p.V336E|RNH1_uc001lpq.2_Missense_Mutation_p.V336E|RNH1_uc001lpr.2_Missense_Mutation_p.V336E|RNH1_uc001lps.2_Missense_Mutation_p.V336E NM_203389 NP_976323 P13489 RINI_HUMAN Homo sapiens ribonuclease/angiogenin inhibitor 1 (RNH1), transcript variant 8, mRNA. 336 mRNA catabolic process|regulation of angiogenesis angiogenin-PRI complex|cytoplasm protein binding|ribonuclease inhibitor activity endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1) 10 all_cancers(49;3.02e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713) all cancers(45;1.26e-26)|Epithelial(43;1.34e-25)|OV - Ovarian serous cystadenocarcinoma(40;5.31e-20)|BRCA - Breast invasive adenocarcinoma(625;8.01e-05)|Lung(200;0.0378)|LUSC - Lung squamous cell carcinoma(625;0.0703) CTGGGCCAGCACTGAGCTGAA 0.652000 54 10 0 0 0.006214 0 0 TAF1L 138474 broad.mit.edu 37 9 32634401 32634401 + Missense_Mutation SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr9:32634401C>T uc003zrg.1 - 0 1267 c.1177G>A c.(1177-1179)Gaa>Aaa p.E393K AX747113_uc003zrh.1_Non-coding_Transcript NM_153809 NP_722516 Q8IZX4 TAF1L_HUMAN Homo sapiens TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like (TAF1L), mRNA. 393 male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent transcription factor TFIID complex DNA binding|TBP-class protein binding|histone acetyltransferase activity|protein serine/threonine kinase activity breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1) 159 LUSC - Lung squamous cell carcinoma(29;0.0181) GBM - Glioblastoma multiforme(74;0.00301) ATCACAGGTTCATGTTGTGTC 0.463000 103 24 0 0 0.002780 0 0 PLA2G12A 81579 broad.mit.edu 37 4 110638855 110638855 + Silent SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr4:110638855G>A uc003hzp.3 - 2 577 c.300C>T c.(298-300)atC>atT p.I100I PLA2G12A_uc010img.3_Silent_p.I98I NM_030821 NP_110448 Q9BZM1 PG12A_HUMAN Homo sapiens phospholipase A2, group XIIA (PLA2G12A), mRNA. 100 lipid catabolic process|phospholipid metabolic process extracellular region calcium ion binding|calcium-dependent phospholipase A2 activity kidney(1)|lung(1)|ovary(1)|skin(1) 4 OV - Ovarian serous cystadenocarcinoma(123;0.000268) TCAGGGAAGGGATACCAATGT 0.408000 77 14 0 0 0.003163 0 0 OR4N3P 390539 broad.mit.edu 37 15 22413731 22413731 + Silent SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr15:22413731G>A uc001yuf.3 + 0 270 c.30G>A c.(28-30)aaG>aaA p.K10K abParts_uc001yuj.2_Intron Homo sapiens olfactory receptor, family 4, subfamily N, member 3 pseudogene (OR4N3P), non-coding RNA. CTGAGAAGAAGGTAATCTCCT 0.502000 197 19 0 0 0.008871 0 0 PER2 8864 broad.mit.edu 37 2 239162200 239162200 + Missense_Mutation SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr2:239162200G>A uc002vyc.3 - 18 2701 c.2464C>T c.(2464-2466)Ccg>Tcg p.P822S PER2_uc010znv.1_Missense_Mutation_p.P822S NM_022817 NP_073728 O15055 PER2_HUMAN Homo sapiens period homolog 2 (Drosophila) (PER2), mRNA. 822 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) CCCACCAGCGGGGGCCGGGCG 0.612000 15 3 0 0 0.009096 0 0 SLC8A3 6547 broad.mit.edu 37 14 70635068 70635068 + Silent SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr14:70635068G>A uc001xly.3 - 1 826 c.72C>T c.(70-72)ttC>ttT p.F24F SLC8A3_uc001xlw.3_Silent_p.F24F|SLC8A3_uc001xlx.3_Silent_p.F24F|SLC8A3_uc001xlz.3_Silent_p.F24F|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. 24 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) GACCATTCAGGAAGAGCACAA 0.552000 21 7 0 0 0.001984 0 0 RBBP4 5928 broad.mit.edu 37 1 33138492 33138492 + Missense_Mutation SNP T C C TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr1:33138492T>C uc001bvr.3 + 10 1361 c.1202T>C c.(1201-1203)gTg>gCg p.V401A RBBP4_uc001bvs.3_Missense_Mutation_p.V400A|RBBP4_uc010ohj.2_Missense_Mutation_p.V149A|RBBP4_uc010ohk.2_Missense_Mutation_p.V366A NM_005610 NP_001128728 Q09028 RBBP4_HUMAN Homo sapiens retinoblastoma binding protein 4 (RBBP4), transcript variant 1, mRNA. 401 CenH3-containing nucleosome assembly at centromere|DNA replication|cell cycle|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent CAF-1 complex|ESC/E(Z) complex|NURF complex|NuRD complex|Sin3 complex histone binding|histone deacetylase binding breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|ovary(1)|prostate(4)|urinary_tract(1) 15 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837) ATCATGCAAGTGTGGCAAATG 0.348000 23 5 0 0 0.000602 0 0 NAALADL2 254827 broad.mit.edu 37 3 175520795 175520796 + Missense_Mutation DNP AC TT TT TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr3:175520795_175520796AC>TT uc003fit.3 + 13 2279_2280 c.2192_2193AC>TT c.(2191-2193)aac>aTT p.N731I NM_207015 NP_996898 Q58DX5 NADL2_HUMAN Homo sapiens N-acetylated alpha-linked acidic dipeptidase-like 2 (NAALADL2), mRNA. 731 proteolysis integral to membrane peptidase activity central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4) 49 Ovarian(172;0.0102) all_cancers(1;0.0272)|all_epithelial(1;0.0553) OV - Ovarian serous cystadenocarcinoma(80;9.26e-28) Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284) CTTTTCAGAAACATCCTCTACC 0.356000 19 4 0 0 0.004672 0 0 AFF4 27125 broad.mit.edu 37 5 132262827 132262827 + Missense_Mutation SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr5:132262827G>A uc003kyd.3 - 4 1444 c.1036C>T c.(1036-1038)Cct>Tct p.P346S AFF4_uc011cxk.2_Missense_Mutation_p.P24S|AFF4_uc003kye.1_Missense_Mutation_p.P346S|AFF4_uc003kyf.4_Missense_Mutation_p.P346S NM_014423 NP_055238 Q9UHB7 AFF4_HUMAN Homo sapiens AF4/FMR2 family, member 4 (AFF4), mRNA. 346 Ser-rich. transcription from RNA polymerase II promoter mitochondrion|nucleolus protein binding|sequence-specific DNA binding transcription factor activity SEPT8/AFF4(2) breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(7)|lung(11)|ovary(3)|pancreas(1)|prostate(3)|skin(2) 43 all_cancers(142;0.145)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) GTTGGAAAAGGAAATTTGGAA 0.333000 35 5 0 0 0.001168 0 0 AK022382 0 broad.mit.edu 37 10 52390613 52390613 + RNA SNP C G G TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr10:52390613C>G uc001jjf.1 + 1 c.1306C>G Homo sapiens cDNA FLJ12320 fis, clone MAMMA1002082. CATAGGGTGTCTGCTCAATTT 0.423000 12 3 0 0 0.004672 0 0 PKD1L2 114780 broad.mit.edu 37 16 81157334 81157334 + Missense_Mutation SNP A C C TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr16:81157334A>C uc002fgh.1 - 38 6400 c.6400T>G c.(6400-6402)Ttt>Gtt p.F2134V PKD1L2_uc002fgf.1_5'UTR|PKD1L2_uc002fgg.1_Non-coding_Transcript NM_052892 NP_443124 Q7Z442 PK1L2_HUMAN Homo sapiens polycystic kidney disease 1-like 2 (PKD1L2), transcript variant 1, mRNA. 2136 neuropeptide signaling pathway integral to membrane calcium ion binding|ion channel activity|sugar binding breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 GACTCCACAAACACAGCTCTG 0.567000 86 13 0 0 0.013537 0 0 MIOX 55586 broad.mit.edu 37 22 50926360 50926360 + Missense_Mutation SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr22:50926360G>A uc003bll.1 + 3 337 c.223G>A c.(223-225)Gag>Aag p.E75K MIOX_uc003blm.1_Missense_Mutation_p.E75K|MIOX_uc003bln.1_Missense_Mutation_p.E75K NM_017584 NP_060054 Q9UGB7 MIOX_HUMAN Homo sapiens myo-inositol oxygenase (MIOX), mRNA. 75 inositol catabolic process cytoplasm|inclusion body aldo-keto reductase (NADP) activity|ferric iron binding|inositol oxygenase activity endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 13 all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) GACAGTCATGGAGGCCGTGGA 0.612000 46 7 0 0 0.003080 0 0 TMEM174 134288 broad.mit.edu 37 5 72469697 72469697 + Splice_Site SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr5:72469697G>A uc010izc.3 + 1 674 c.626_splice c.e1+1 p.R209_splice NM_153217 NP_694949 Q8WUU8 TM174_HUMAN Homo sapiens transmembrane protein 174 (TMEM174), mRNA. 209 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) GAAATCACAGGTATGGCGTGT 0.488000 74 15 0 0 0.004990 0 0 AQPEP 206338 broad.mit.edu 37 5 115335561 115335561 + Missense_Mutation SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr5:115335561G>A uc003kro.3 + 6 1641 c.1477G>A c.(1477-1479)Gaa>Aaa p.E493K AQPEP_uc003krp.3_Non-coding_Transcript|AQPEP_uc003krs.3_Non-coding_Transcript|AQPEP_uc003krq.3_Non-coding_Transcript|AQPEP_uc003krr.3_Non-coding_Transcript NM_173800 NP_776161 Q6Q4G3 AMPQ_HUMAN Homo sapiens laeverin (AQPEP), mRNA. 493 proteolysis integral to membrane metallopeptidase activity|zinc ion binding CAAAACAAGTGAAATACAGGA 0.353000 42 10 0 0 0.006214 0 0 ZNF584 201514 broad.mit.edu 37 19 58921369 58921369 + Missense_Mutation SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr19:58921369C>T uc002qsp.3 + 1 532 c.80C>T c.(79-81)tCc>tTc p.S27F ZNF584_uc010yia.2_Intron|ZNF584_uc010yib.2_Missense_Mutation_p.S19F NM_173548 NP_775819 Q8IVC4 ZN584_HUMAN Homo sapiens zinc finger protein 584 (ZNF584), mRNA. 27 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|kidney(3)|large_intestine(3)|lung(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 14 all_cancers(17;5.3e-17)|all_epithelial(17;3.71e-12)|Lung NSC(17;8.3e-05)|Colorectal(82;0.000147)|all_lung(17;0.000386)|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;0.0271) GTATATTTCTCCAGGGAGGAG 0.493000 60 20 0 0 0.014323 0 0 PRAMEF12 390999 broad.mit.edu 37 1 12836148 12836148 + Silent SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr1:12836148G>A uc001aui.3 + 1 777 c.750G>A c.(748-750)agG>agA p.R250R NM_001080830 NP_001074299 O95522 PRA12_HUMAN Homo sapiens PRAME family member 12 (PRAMEF12), mRNA. 250 NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|urinary_tract(1) 23 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) CCCTAGACAGGAAGGAGCAGT 0.502000 76 22 0 0 0.012319 0 0 UNC13C 440279 broad.mit.edu 37 15 54307828 54307828 + Missense_Mutation SNP T A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr15:54307828T>A uc021smr.1 + 0 2728 c.2728T>A c.(2728-2730)Tat>Aat p.Y910N UNC13C_uc021sms.1_Missense_Mutation_p.Y910N NM_001080534 NP_001074003 Q8NB66 UN13C_HUMAN Homo sapiens unc-13 homolog C (C. elegans) (UNC13C), mRNA. 910 exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4) 121 GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124) TCACCTTTCATATGAAACACC 0.383000 83 18 0 0 0.008871 0 0 PRAMEF2 65122 broad.mit.edu 37 1 12919684 12919684 + Missense_Mutation SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr1:12919684G>A uc001aum.1 + 2 511 c.424G>A c.(424-426)Gga>Aga p.G142R NM_023014 NP_075390 O60811 PRAM2_HUMAN Homo sapiens PRAME family member 2 (PRAMEF2), mRNA. 142 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) TCCAAGGACGGGAGAGCACCA 0.542000 204 42 0 0 0.007835 0 0 MAP2K4 6416 broad.mit.edu 37 17 11984723 11984723 + Missense_Mutation SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr17:11984723C>T uc002gnj.3 + 2 338 c.269C>T c.(268-270)tCc>tTc p.S90F MAP2K4_uc002gnk.3_Missense_Mutation_p.S101F|MAP2K4_uc010vvi.2_5'UTR|MAP2K4_uc010vvj.2_Intron|MIR744_uc021tqg.1_5'Flank NM_003010 NP_003001 P45985 MP2K4_HUMAN Homo sapiens mitogen-activated protein kinase kinase 4 (MAP2K4), mRNA. 90 JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|cellular response to mechanical stimulus|innate immune response|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 ATP binding|JUN kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.0?(10)|p.?(1) NS(1)|biliary_tract(2)|breast(22)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(26)|lung(15)|ovary(8)|pancreas(11)|skin(3)|stomach(2)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 100 all_cancers(5;0.0413)|Breast(5;0.000625)|all_epithelial(5;0.00978)|all_lung(20;0.0449)|Lung NSC(33;0.163) Epithelial(2;4.12e-09)|all cancers(2;6.86e-07)|BRCA - Breast invasive adenocarcinoma(2;8.74e-07)|Colorectal(4;5.32e-05)|COAD - Colon adenocarcinoma(4;0.0039)|READ - Rectum adenocarcinoma(10;0.0681) CTGAAGATCTCCCCTGAACAA 0.403000 """D, Mis, N""" """pancreatic, breast, colorectal""" 26 7 0 0 0.003080 0 0 SLC9A9 285195 broad.mit.edu 37 3 143185918 143185918 + Missense_Mutation SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr3:143185918C>T uc003evn.3 - 11 1639 c.1430G>A c.(1429-1431)gGa>gAa p.G477E NM_173653 NP_775924 Q8IVB4 SL9A9_HUMAN Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 9 (SLC9A9), mRNA. 477 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 TGTTCCTCCTCCAAATACCCA 0.468000 19 8 0 0 0.004482 0 0 COL4A5 1287 broad.mit.edu 37 X 107842027 107842027 + Silent SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chrX:107842027C>T uc022ccg.1 + 24 2077 c.1875C>T c.(1873-1875)ttC>ttT p.F625F COL4A5_uc004enz.1_Silent_p.F625F|COL4A5_uc004eob.1_Silent_p.F233F NM_033380 NP_203699 P29400 CO4A5_HUMAN Homo sapiens collagen, type IV, alpha 5 (COL4A5), transcript variant 2, mRNA. 625 Triple-helical region. FGPP -> LALQ (in Ref. 5; AAA99480). axon guidance collagen type IV extracellular matrix structural constituent|protein binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 99 CCCCTGGTTTCGGCCCTCCAG 0.512000 Alport syndrome with Diffuse Leiomyomatosis 30 28 0 0 0.004656 0 0 OR5H15 403274 broad.mit.edu 37 3 97888287 97888287 + Silent SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr3:97888287C>T uc011bgu.2 + 0 744 c.744C>T c.(742-744)gtC>gtT p.V248V NM_001005515 NP_001005515 A6NDH6 O5H15_HUMAN Homo sapiens olfactory receptor, family 5, subfamily H, member 15 (OR5H15), mRNA. 248 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(2)|stomach(1) 35 TCTTCTCTGTCTGTTTATACT 0.428000 45 18 0 0 0.006122 0 0 VPS54 51542 broad.mit.edu 37 2 64211013 64211013 + Missense_Mutation SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr2:64211013G>A uc002scq.3 - 1 284 c.121C>T c.(121-123)Ccc>Tcc p.P41S VPS54_uc002scp.3_Missense_Mutation_p.P41S NM_016516 NP_057600 Q9P1Q0 VPS54_HUMAN Homo sapiens vacuolar protein sorting 54 homolog (S. cerevisiae) (VPS54), transcript variant 1, mRNA. 41 protein transport|retrograde transport, endosome to Golgi p.C40C(1) endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(1)|upper_aerodigestive_tract(1) 27 GGTTCCTTGGGACACACATCT 0.383000 96 25 0 0 0.007291 0 0 ENOX1 55068 broad.mit.edu 37 13 43930157 43930157 + Missense_Mutation SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr13:43930157G>A uc001uza.4 - 7 1021 c.721C>T c.(721-723)Cac>Tac p.H241Y ENOX1_uc001uzc.4_Missense_Mutation_p.H241Y|ENOX1_uc001uzb.4_Missense_Mutation_p.H241Y|ENOX1_uc010tfm.1_Missense_Mutation_p.H54Y NM_001127615 NP_060463 Q8TC92 ENOX1_HUMAN Homo sapiens ecto-NOX disulfide-thiol exchanger 1 (ENOX1), transcript variant 2, mRNA. 241 electron transport chain|rhythmic process|transport extracellular space|plasma membrane nucleic acid binding|nucleotide binding|oxidoreductase activity breast(1)|endometrium(3)|large_intestine(7)|lung(18)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(1) 34 Lung NSC(96;0.000518)|Prostate(109;0.0233)|Hepatocellular(98;0.0268)|Lung SC(185;0.0367)|Breast(139;0.0406) GBM - Glioblastoma multiforme(144;0.00333)|BRCA - Breast invasive adenocarcinoma(63;0.172) TTGCGCCGGTGCCGCTCCTCC 0.612000 104 24 0 0 0.003330 0 0 OR51D1 390038 broad.mit.edu 37 11 4661907 4661907 + Missense_Mutation SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr11:4661907C>T uc010qyk.2 + 0 963 c.887C>T c.(886-888)cCa>cTa p.P296L NM_001004751 NP_001004751 Q8NGF3 O51D1_HUMAN Homo sapiens olfactory receptor, family 51, subfamily D, member 1 (OR51D1), mRNA. 296 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|liver(2)|lung(14)|prostate(1)|skin(2)|urinary_tract(1) 27 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;2.74e-13)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|GBM - Glioblastoma multiforme(2;0.0841)|LUSC - Lung squamous cell carcinoma(625;0.19) TTGCTGCTACCACCTGTAGTC 0.522000 129 23 0 0 0.002780 0 0 PPP2R5C 5527 broad.mit.edu 37 14 102359354 102359354 + Missense_Mutation SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr14:102359354C>T uc001yko.3 + 6 847 c.707C>T c.(706-708)gCc>gTc p.A236V PPP2R5C_uc010txr.2_Missense_Mutation_p.A267V|PPP2R5C_uc001ykk.3_Missense_Mutation_p.A291V|PPP2R5C_uc010txt.2_Missense_Mutation_p.A226V|PPP2R5C_uc001ykn.3_Missense_Mutation_p.A236V|PPP2R5C_uc001ykp.3_Missense_Mutation_p.A236V|PPP2R5C_uc001ykq.3_Missense_Mutation_p.A134V NM_002719 NP_002710 Q13362 2A5G_HUMAN Homo sapiens protein phosphatase 2, regulatory subunit B', gamma (PPP2R5C), transcript variant 1, mRNA. 236 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|negative regulation of cell proliferation|proteasomal ubiquitin-dependent protein catabolic process|signal transduction chromosome, centromeric region|nucleus|protein phosphatase type 2A complex protein binding|protein phosphatase type 2A regulator activity breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 20 AATGGATTTGCCTTACCACTA 0.343000 30 8 0 0 0.003080 0 0 MECOM 2122 broad.mit.edu 37 3 169099049 169099049 + Missense_Mutation SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr3:169099049C>T uc011bpj.1 - 1 704 c.301G>A c.(301-303)Gaa>Aaa p.E101K MECOM_uc003ffl.2_Missense_Mutation_p.E73K|MECOM_uc011bpk.1_Intron|MECOM_uc010hwn.2_Missense_Mutation_p.E101K|MECOM_uc011bpl.1_Missense_Mutation_p.E101K NM_004991 NP_004982 Q13465 MDS1_HUMAN Homo sapiens MDS1 and EVI1 complex locus (MECOM), transcript variant 4, mRNA. 101 sequence-specific DNA binding transcription factor activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4) 85 TCACCTACTTCGATCTTCCTT 0.448000 86 16 0 0 0.004007 0 0 RIMKLA 284716 broad.mit.edu 37 1 42865133 42865133 + Silent SNP A G G TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr1:42865133A>G uc001chi.2 + 1 360 c.222A>G c.(220-222)gtA>gtG p.V74V NM_173642 NP_775913 Q8IXN7 RIMKA_HUMAN Homo sapiens ribosomal modification protein rimK-like family member A (RIMKLA), mRNA. 74 protein modification process cytoplasm ATP binding|acid-amino acid ligase activity|metal ion binding NS(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 13 TTGTACGGGTACCCACACCCT 0.552000 21 6 0 0 0.001168 0 0 ODZ1 10178 broad.mit.edu 37 X 123657419 123657419 + Missense_Mutation SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chrX:123657419G>A uc010nqy.3 - 16 2892 c.2828C>T c.(2827-2829)cCt>cTt p.P943L ODZ1_uc011muj.2_Missense_Mutation_p.P942L|ODZ1_uc004euj.3_Missense_Mutation_p.P943L NM_001163278 NP_001156750 Q9UKZ4 TEN1_HUMAN Homo sapiens odz, odd Oz/ten-m homolog 1 (Drosophila) (ODZ1), transcript variant 1, mRNA. 943 immune response|negative regulation of cell proliferation|nervous system development|signal transduction extracellular region heparin binding p.D942N(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 AGGCAGGAAAGGGGATCGGTC 0.453000 15 20 0 0 0.007413 0 0 GPR97 222487 broad.mit.edu 37 16 57718373 57718373 + Missense_Mutation SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr16:57718373G>A uc002emh.3 + 9 1337 c.1234G>A c.(1234-1236)Gag>Aag p.E412K GPR97_uc010vhv.2_Missense_Mutation_p.E292K|GPR97_uc010cdd.3_Non-coding_Transcript|GPR97_uc010cde.3_Missense_Mutation_p.E20K NM_170776 NP_740746 Q86Y34 GPR97_HUMAN Homo sapiens G protein-coupled receptor 97 (GPR97), mRNA. 412 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 30 CCGTGATAGGGAGAACCGCAC 0.632000 26 8 0 0 0.004482 0 0 KRTAP5-3 387266 broad.mit.edu 37 11 1629547 1629547 + Silent SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr11:1629547G>A uc001ltw.1 - 0 147 c.69C>T c.(67-69)ggC>ggT p.G23G MOB2_uc001ltq.2_Intron NM_001012708 NP_001012726 Q6L8H2 KRA53_HUMAN Homo sapiens keratin associated protein 5-3 (KRTAP5-3), mRNA. 23 keratin filament endometrium(1)|large_intestine(2)|lung(3)|ovary(2) 8 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;0.000618)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822) CGGAGCCACAGCCCCCACAGC 0.657000 117 29 0 0 0.008361 0 0 PLXNA4 91584 broad.mit.edu 37 7 131825389 131825389 + Missense_Mutation SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr7:131825389C>T uc003vra.4 - 29 5636 c.5407G>A c.(5407-5409)Gac>Aac p.D1803N PLXNA4_uc003vqz.4_Missense_Mutation_p.D88N NM_020911 NP_065962 Q9HCM2 PLXA4_HUMAN Homo sapiens plexin A4 (PLXNA4), transcript variant 1, mRNA. 1803 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 CTGGGGATGTCCTTGGCATAC 0.602000 45 14 0 0 0.004990 0 0 OR13C9 286362 broad.mit.edu 37 9 107380371 107380371 + Missense_Mutation SNP G A A rs150686997 byFrequency TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr9:107380371G>A uc011lvr.2 - 0 115 c.115C>T c.(115-117)Ctt>Ttt p.L39F NM_001001956 NP_001001956 Q8NGT0 O13C9_HUMAN Homo sapiens olfactory receptor, family 13, subfamily C, member 9 (OR13C9), mRNA. 39 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.L39F(2) breast(1)|endometrium(1)|large_intestine(6)|lung(9)|prostate(1)|skin(4) 22 TTCCCCAGAAGGATGACCACA 0.433000 64 9 0 0 0.008291 0 0 OR5H15 403274 broad.mit.edu 37 3 97888044 97888044 + Silent SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr3:97888044C>T uc011bgu.2 + 0 501 c.501C>T c.(499-501)acC>acT p.T167T NM_001005515 NP_001005515 A6NDH6 O5H15_HUMAN Homo sapiens olfactory receptor, family 5, subfamily H, member 15 (OR5H15), mRNA. 167 T -> S (in dbSNP:rs4133322). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(2)|stomach(1) 35 TCAGACTAACCTTCTGTAACT 0.333000 40 8 0 0 0.003080 0 0 PRRC2B 84726 broad.mit.edu 37 9 134350720 134350720 + Silent SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr9:134350720C>T uc004can.4 + 14 3259 c.3204C>T c.(3202-3204)ggC>ggT p.G1068G PRRC2B_uc010mzj.1_Silent_p.G651G|PRRC2B_uc004cao.4_Silent_p.G426G NM_013318 NP_037450 Q5JSZ5 PRC2B_HUMAN Homo sapiens proline-rich coiled-coil 2B (PRRC2B), mRNA. 1068 protein binding cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2) 44 GGGGCCGGGGCCGTGGTTTCA 0.607000 43 5 0 0 0.000602 0 0 CFI 3426 broad.mit.edu 37 4 110667389 110667389 + Missense_Mutation SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr4:110667389C>T uc011cft.2 - 11 1650 c.1442G>A c.(1441-1443)gGa>gAa p.G481E CFI_uc003hzq.3_Missense_Mutation_p.G270E|CFI_uc003hzr.4_Missense_Mutation_p.G473E NM_000204 NP_000195 P05156 CFAI_HUMAN Homo sapiens complement factor I (CFI), mRNA. 473 Peptidase S1. complement activation, classical pathway|innate immune response|proteolysis extracellular space|membrane scavenger receptor activity|serine-type endopeptidase activity breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|skin(2)|stomach(1) 27 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.000331) TTTTTCTCGTCCCCAGCCAGA 0.418000 32 7 0 0 0.001984 0 0 TMPRSS11E 28983 broad.mit.edu 37 4 69343184 69343184 + Missense_Mutation SNP T A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr4:69343184T>A uc003hdz.4 + 7 869 c.805T>A c.(805-807)Tac>Aac p.Y269N NM_014058 NP_054777 Q9UL52 TM11E_HUMAN Homo sapiens transmembrane protease, serine 11E (TMPRSS11E), mRNA. 269 Peptidase S1. proteolysis extracellular region|integral to plasma membrane serine-type endopeptidase activity endometrium(1)|lung(19)|pancreas(1)|skin(3) 24 CCATGAAAAATACAAACACCC 0.418000 203 48 0 0 0.014410 0 0 SNAPC5 10302 broad.mit.edu 37 15 66790148 66790148 + Splice_Site SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr15:66790148G>A uc002apu.1 - 1 1 c.-76_splice c.e1-1 NM_006049 NP_006040 O75971 SNPC5_HUMAN Homo sapiens small nuclear RNA activating complex, polypeptide 5, 19kDa (SNAPC5), mRNA. transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase III promoter nucleoplasm sequence-specific DNA binding transcription factor activity breast(1)|large_intestine(1) 2 CCGACTCCCGGAAACCGAGCG 0.706000 OREG0023204 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 9 6 0 0 0.001168 0 0 CDK18 5129 broad.mit.edu 37 1 205494284 205494284 + Silent SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr1:205494284G>A uc001hcr.3 + 4 769 c.507G>A c.(505-507)ggG>ggA p.G169G CDK18_uc010pri.2_Missense_Mutation_p.E160K|CDK18_uc001hcp.3_Silent_p.G139G|CDK18_uc001hcq.3_Silent_p.G139G|CDK18_uc010prj.2_Silent_p.G50G|CDK18_uc001hcs.3_Silent_p.G50G|CDK18_uc009xbm.1_Silent_p.G50G NM_212503 NP_997668 Q07002 CDK18_HUMAN Homo sapiens cyclin-dependent kinase 18 (CDK18), transcript variant 1, mRNA. 137 Protein kinase. 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 TTGGCTTTGGGAAACTGGAAA 0.547000 30 7 0 0 0.004482 0 0 GADD45GIP1 90480 broad.mit.edu 37 19 13065339 13065339 + Splice_Site SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr19:13065339C>T uc002mwb.3 - 2 375 c.351_splice c.e2-1 p.R117_splice NM_052850 NP_443082 Q8TAE8 G45IP_HUMAN Homo sapiens growth arrest and DNA-damage-inducible, gamma interacting protein 1 (GADD45GIP1), mRNA. 117 cell cycle|interspecies interaction between organisms nucleus protein binding ovary(2)|prostate(1)|skin(1) 4 ATGTGCTGCTCCCTGCAGGGG 0.617000 29 9 0 0 0.004482 0 0 CNTNAP2 26047 broad.mit.edu 37 7 146805262 146805262 + Missense_Mutation SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr7:146805262G>A uc003weu.2 + 4 1090 c.574G>A c.(574-576)Ggc>Agc p.G192S NM_014141 NP_054860 Q9UHC6 CNTP2_HUMAN Homo sapiens contactin associated protein-like 2 (CNTNAP2), mRNA. 192 behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex receptor binding p.G192G(1) NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3) 188 Melanoma(164;0.153) all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794) OV - Ovarian serous cystadenocarcinoma(82;0.0319) CAACTTTGATGGCCATGTTGT 0.348000 HNSCC(39;0.1) 40 9 0 0 0.008291 0 0 KLHL32 114792 broad.mit.edu 37 6 97561827 97561827 + Missense_Mutation SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr6:97561827G>A uc010kcm.1 + 6 1268 c.796G>A c.(796-798)Gaa>Aaa p.E266K KLHL32_uc003poy.3_Missense_Mutation_p.E266K|KLHL32_uc003poz.2_Intron|KLHL32_uc011ead.1_Missense_Mutation_p.E230K|KLHL32_uc011eae.1_Missense_Mutation_p.E197K|KLHL32_uc003ppa.2_Intron|MIR548H3_uc021zda.1_Intron NM_052904 NP_443136 Q96NJ5 KLH32_HUMAN Homo sapiens kelch-like 32 (Drosophila) (KLHL32), mRNA. 266 breast(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(13)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 38 all_cancers(76;1.19e-06)|Acute lymphoblastic leukemia(125;5.83e-10)|all_hematologic(75;3.67e-07)|all_epithelial(107;0.00778)|Colorectal(196;0.122) BRCA - Breast invasive adenocarcinoma(108;0.0558) CGAGGCCCTGGAATACCACCA 0.527000 45 9 0 0 0.004482 0 0 NUP210 23225 broad.mit.edu 37 3 13363298 13363298 + Silent SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr3:13363298C>T uc003bxv.1 - 35 5036 c.4953G>A c.(4951-4953)acG>acA p.T1651T NM_024923 NP_079199 Q8TEM1 PO210_HUMAN Homo sapiens nucleoporin 210kDa (NUP210), mRNA. 1651 carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction endoplasmic reticulum membrane|nuclear membrane|nuclear pore p.T1651T(2) NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2) 66 all_neural(104;0.187) GCTGCTTGTCCGTCAGCCTGT 0.572000 212 43 0 0 0.013114 0 0 PIGK 10026 broad.mit.edu 37 1 77635030 77635030 + Missense_Mutation SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr1:77635030G>A uc001dhk.3 - 3 335 c.290C>T c.(289-291)cCc>cTc p.P97L PIGK_uc010orj.2_Intron|PIGK_uc009wbx.3_Intron|PIGK_uc001dhl.1_Missense_Mutation_p.P97L NM_005482 NP_005473 Q92643 GPI8_HUMAN Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class K (PIGK), mRNA. 97 C-terminal protein lipidation|attachment of GPI anchor to protein|protein thiol-disulfide exchange|proteolysis GPI-anchor transamidase complex GPI-anchor transamidase activity|cysteine-type endopeptidase activity|protein binding endometrium(5)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2) 19 AGCTGGTTTGGGATTTCTAGG 0.333000 48 12 0 0 0.013537 0 0 STARD4 134429 broad.mit.edu 37 5 110835597 110835597 + Missense_Mutation SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr5:110835597C>T uc003kph.1 - 5 689 c.605G>A c.(604-606)cGa>cAa p.R202Q STARD4_uc010jbw.1_Missense_Mutation_p.R104Q|STARD4_uc010jbx.1_Missense_Mutation_p.R104Q|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. 202 START. lipid transport lipid binding 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) TAAAGCTTTTCGTAAATCACC 0.403000 57 7 0 0 0.001984 0 0 IGSF1 3547 broad.mit.edu 37 X 130419974 130419974 + Missense_Mutation SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chrX:130419974G>A uc004ewe.4 - 3 429 c.146C>T c.(145-147)gCc>gTc p.A49V IGSF1_uc004ewd.3_Missense_Mutation_p.A49V|IGSF1_uc022cdv.1_Missense_Mutation_p.A40V|IGSF1_uc004ewf.2_Missense_Mutation_p.A29V|IGSF1_uc022cdw.1_Missense_Mutation_p.A49V|IGSF1_uc004ewg.3_Missense_Mutation_p.A49V NM_001170961 NP_001164432 Q8N6C5 IGSF1_HUMAN Homo sapiens immunoglobulin superfamily, member 1 (IGSF1), transcript variant 3, mRNA. 49 Ig-like C2-type 1. regulation of transcription, DNA-dependent extracellular region|integral to membrane inhibin beta-A binding|inhibin beta-B binding breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2) 78 CTCCCAAGGGGCCTGGGGGTA 0.527000 48 22 0 0 0.003330 0 0 NAP1L2 4674 broad.mit.edu 37 X 72433461 72433461 + Missense_Mutation SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chrX:72433461G>A uc004ebi.3 - 0 1250 c.868C>T c.(868-870)Cac>Tac p.H290Y NM_021963 NP_068798 Q9ULW6 NP1L2_HUMAN Homo sapiens nucleosome assembly protein 1-like 2 (NAP1L2), mRNA. 290 nucleosome assembly chromatin assembly complex NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(3) 29 Renal(35;0.156) GGTTTGAAGTGAAATTCTAGT 0.383000 18 13 0 0 0.013537 0 0 CA10 56934 broad.mit.edu 37 17 50212243 50212243 + Silent SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr17:50212243C>T uc002itv.4 - 1 811 c.75G>A c.(73-75)gaG>gaA p.E25E CA10_uc002itw.4_Intron|CA10_uc002itx.4_Intron|CA10_uc002ity.4_Intron|CA10_uc002itz.2_Intron NM_020178 NP_064563 Q9NS85 CAH10_HUMAN Homo sapiens carbonic anhydrase X (CA10), transcript variant 2, mRNA. 0 brain development cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|skin(3)|stomach(2)|urinary_tract(1) 41 BRCA - Breast invasive adenocarcinoma(22;4.74e-06) actcaccattctccctcaccc 0.572000 56 7 0 0 0.003080 0 0 NRAP 4892 broad.mit.edu 37 10 115350562 115350562 + Silent SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr10:115350562G>A uc001lal.3 - 39 4895 c.4731C>T c.(4729-4731)ttC>ttT p.F1577F NRAP_uc009xyb.3_Silent_p.F330F|NRAP_uc001laj.3_Silent_p.F1577F|NRAP_uc001lak.3_Silent_p.F1542F NM_198060 NP_932326 Q86VF7 NRAP_HUMAN Homo sapiens nebulin-related anchoring protein (NRAP), transcript variant 2, mRNA. 1577 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) CAACGTTGAGGAAATGCTTCA 0.567000 64 13 0 0 0.001855 0 0 SRRM2 23524 broad.mit.edu 37 16 2814690 2814690 + Silent SNP C T T rs78949014 byFrequency TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr16:2814690C>T uc002crk.3 + 10 4710 c.4161C>T c.(4159-4161)tcC>tcT p.S1387S SRRM2_uc002crj.1_Silent_p.S1291S|SRRM2_uc002crl.1_Silent_p.S1387S|SRRM2_uc010bsu.1_Silent_p.S1291S NM_016333 NP_057417 Q9UQ35 SRRM2_HUMAN Homo sapiens serine/arginine repetitive matrix 2 (SRRM2), mRNA. 1387 Ser-rich. Cajal body|catalytic step 2 spliceosome|nuclear speck C2H2 zinc finger domain binding|RNA binding|protein N-terminus binding breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7) 105 CTGAGTTATCCCCAGATGCAG 0.448000 228 50 0 0 0.014410 0 0 RLF 6018 broad.mit.edu 37 1 40705609 40705609 + Silent SNP C T T rs138324360 byFrequency TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr1:40705609C>T uc001cfc.4 + 7 5266 c.5235C>T c.(5233-5235)gtC>gtT p.V1745V RLF_uc001cfd.4_Silent_p.V1436V NM_012421 NP_036553 Q13129 RLF_HUMAN Homo sapiens rearranged L-myc fusion (RLF), mRNA. 1745 DNA integration|DNA mediated transformation|chromosome organization|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent DNA binding|protein binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2) 68 Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461) CAACCCATGTCCCAAAAGAGA 0.378000 31 9 0 0 0.004482 0 0 UGT2A3 79799 broad.mit.edu 37 4 69817217 69817217 + Missense_Mutation SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr4:69817217C>T uc003hef.2 - 0 293 c.262G>A c.(262-264)Gaa>Aaa p.E88K UGT2A3_uc010ihp.1_Non-coding_Transcript NM_024743 NP_079019 Q6UWM9 UD2A3_HUMAN Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide A3 (UGT2A3), mRNA. 88 integral to membrane glucuronosyltransferase activity p.E88K(2) 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 ACAAATATTTCATTTTCTTCT 0.363000 45 6 0 0 0.001168 0 0 HOMER2 9455 broad.mit.edu 37 15 83561540 83561540 + Missense_Mutation SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr15:83561540G>A uc002bjg.3 - 1 248 c.59C>T c.(58-60)aCc>aTc p.T20I HOMER2_uc002bjh.3_Missense_Mutation_p.T20I NM_199330 NP_955362 Q9NSB8 HOME2_HUMAN Homo sapiens homer homolog 2 (Drosophila) (HOMER2), transcript variant 2, mRNA. 20 WH1. metabotropic glutamate receptor signaling pathway cell junction|cytoplasm|postsynaptic density|postsynaptic membrane cervix(1)|endometrium(2)|lung(6) 9 GTTCTTCTTGGTGTTGGGGTC 0.517000 91 13 0 0 0.001855 0 0 CELSR2 1952 broad.mit.edu 37 1 109815912 109815912 + Silent SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr1:109815912G>A uc001dxa.4 + 31 8524 c.8463G>A c.(8461-8463)gaG>gaA p.E2821E NM_001408 NP_001399 Q9HCU4 CELR2_HUMAN Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 2 (flamingo homolog, Drosophila) (CELSR2), mRNA. 2821 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) TGTCTCGAGAGGGGTCCCTAG 0.647000 210 43 0 0 0.008740 0 0 ZNF131 7690 broad.mit.edu 37 5 43161823 43161823 + Missense_Mutation SNP T G G TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr5:43161823T>G uc011cpw.2 + 4 880 c.844T>G c.(844-846)Tca>Gca p.S282A ZNF131_uc010ivl.1_Missense_Mutation_p.S248A|ZNF131_uc003jnj.4_Missense_Mutation_p.S3A|ZNF131_uc003jnk.3_Missense_Mutation_p.S248A|ZNF131_uc003jnn.4_Missense_Mutation_p.S3A|ZNF131_uc003jnl.1_Intron|ZNF131_uc010ivm.1_Intron NM_003432 NP_003423 P52739 ZN131_HUMAN Homo sapiens zinc finger protein 131 (ZNF131), mRNA. 282 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(2)|endometrium(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1) 17 GCACATGAAATCACACTCCAC 0.383000 25 7 0 0 0.003080 0 0 CACNA1I 8911 broad.mit.edu 37 22 39966983 39966983 + Missense_Mutation SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr22:39966983G>A uc003ayc.3 + 0 226 c.226G>A c.(226-228)Gtg>Atg p.V76M CACNA1I_uc003ayd.3_Missense_Mutation_p.V76M NM_021096 NP_066919 Q9P0X4 CAC1I_HUMAN Homo sapiens calcium channel, voltage-dependent, T type, alpha 1I subunit (CACNA1I), transcript variant 1, mRNA. 76 axon guidance|signal transduction voltage-gated calcium channel complex low voltage-gated calcium channel activity|protein binding breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 60 Melanoma(58;0.0749) Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661) CATCAAGATGGTGTGCAACCC 0.632000 74 20 0 0 0.012319 0 0 ITGA4 3676 broad.mit.edu 37 2 182360653 182360653 + Missense_Mutation SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr2:182360653C>T uc002unu.3 + 13 2292 c.1529C>T c.(1528-1530)cCa>cTa p.P510L ITGA4_uc010frj.1_5'Flank NM_000885 NP_000876 P13612 ITA4_HUMAN Homo sapiens integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor) (ITGA4), mRNA. 510 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) AAGGAAGTTCCAGGTTACATT 0.428000 60 16 0 0 0.004990 0 0 CCDC65 85478 broad.mit.edu 37 12 49312592 49312592 + Missense_Mutation SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr12:49312592G>A uc001rso.3 + 5 1159 c.932G>A c.(931-933)aGa>aAa p.R311K NM_033124 NP_149115 Q8IXS2 CCD65_HUMAN Homo sapiens coiled-coil domain containing 65 (CCDC65), mRNA. 311 breast(1)|large_intestine(4)|lung(7)|ovary(1)|skin(2) 15 AAGGCCCAAAGAACTCAGGCC 0.468000 40 6 0 0 0.001984 0 0 NPTX2 4885 broad.mit.edu 37 7 98254422 98254422 + Missense_Mutation SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr7:98254422G>A uc003upl.2 + 2 1009 c.832G>A c.(832-834)Gag>Aag p.E278K NM_002523 NP_002514 P47972 NPTX2_HUMAN Homo sapiens neuronal pentraxin II (NPTX2), mRNA. 278 Pentaxin. 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) GCAGGCCAACGAGATCGTGCT 0.637000 60 15 0 0 0.006122 0 0 MRAP2 112609 broad.mit.edu 37 6 84798852 84798852 + Missense_Mutation SNP T G G TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr6:84798852T>G uc003pkg.4 + 3 460 c.270T>G c.(268-270)ttT>ttG p.F90L MRAP2_uc010kbo.3_Missense_Mutation_p.F4L NM_138409 NP_612418 Q96G30 MRAP2_HUMAN Homo sapiens melanocortin 2 receptor accessory protein 2 (MRAP2), mRNA. 90 positive regulation of cAMP biosynthetic process|protein localization at cell surface endoplasmic reticulum|plasma membrane corticotropin hormone receptor binding|type 1 melanocortin receptor binding|type 3 melanocortin receptor binding|type 4 melanocortin receptor binding|type 5 melanocortin receptor binding NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(4)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1) 19 TGAACAGCTTTGTGTCAGACT 0.433000 46 6 0 0 0.003080 0 0 CROCC 9696 broad.mit.edu 37 1 17250864 17250864 + Missense_Mutation SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr1:17250864G>A uc001azt.2 + 2 310 c.241G>A c.(241-243)Gag>Aag p.E81K CROCC_uc009voy.1_Intron|CROCC_uc009voz.1_Intron NM_014675 NP_055490 Q5TZA2 CROCC_HUMAN Homo sapiens ciliary rootlet coiled-coil, rootletin (CROCC), mRNA. 81 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) GTCGCTGCAGGAGGAGAACCA 0.642000 26 5 0 0 0.000602 0 0 GATA4 2626 broad.mit.edu 37 8 11606439 11606439 + Missense_Mutation SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr8:11606439G>A uc011kxc.1 + 1 1088 c.631G>A c.(631-633)Gac>Aac p.D211N GATA4_uc003wub.1_Missense_Mutation_p.D4N|GATA4_uc003wuc.2_Missense_Mutation_p.D210N NM_002052 NP_002043 P43694 GATA4_HUMAN Homo sapiens GATA binding protein 4 (GATA4), mRNA. 210 atrial septum primum morphogenesis|atrial septum secundum morphogenesis|blood coagulation|cardiac right ventricle morphogenesis|cell-cell signaling|embryonic foregut morphogenesis|embryonic heart tube anterior/posterior pattern formation|endocardial cushion development|endoderm development|heart looping|intestinal epithelial cell differentiation|male gonad development|positive regulation of angiogenesis|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation vascular endothelial growth factor production|response to drug|transcription from RNA polymerase II promoter|ventricular septum development nucleoplasm activating transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(10) 13 all_epithelial(15;0.0839) STAD - Stomach adenocarcinoma(15;0.00225) COAD - Colon adenocarcinoma(149;0.199) TATGTTTGACGACTTCTCAGA 0.517000 135 30 0 0 0.004289 0 0 PAFAH2 5051 broad.mit.edu 37 1 26317280 26317280 + Missense_Mutation SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr1:26317280G>A uc001bld.4 - 1 208 c.28C>T c.(28-30)Cca>Tca p.P10S PAFAH2_uc001ble.4_Missense_Mutation_p.P10S NM_000437 NP_000428 Q99487 PAFA2_HUMAN Homo sapiens platelet-activating factor acetylhydrolase 2, 40kDa (PAFAH2), mRNA. 10 lipid catabolic process cytoplasm 1-alkyl-2-acetylglycerophosphocholine esterase activity|phospholipid binding NS(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(2)|urinary_tract(1) 9 Colorectal(325;3.47e-05)|Lung NSC(340;6.23e-05)|all_lung(284;9.48e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.84e-25)|Colorectal(126;3.57e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00155)|GBM - Glioblastoma multiforme(114;0.00717)|READ - Rectum adenocarcinoma(331;0.0649) GTGACAGGTGGAAAGCCCACA 0.557000 34 6 0 0 0.001168 0 0 DUOX2 50506 broad.mit.edu 37 15 45398382 45398382 + Silent SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr15:45398382G>A uc001zun.3 - 16 2292 c.2089C>T c.(2089-2091)Ctg>Ttg p.L697L DUOX2_uc010bea.3_Silent_p.L697L NM_014080 NP_054799 Q9NRD8 DUOX2_HUMAN Homo sapiens dual oxidase 2 (DUOX2), mRNA. 697 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) TTGTTGGACAGGATGAGGTTG 0.602000 13 4 0 0 0.000602 0 0 KIAA0586 9786 broad.mit.edu 37 14 58955384 58955384 + Silent SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr14:58955384C>T uc010trr.2 + 25 3976 c.3732C>T c.(3730-3732)ttC>ttT p.F1244F KIAA0586_uc001xdu.4_Silent_p.F1176F|KIAA0586_uc010trs.2_Silent_p.F1106F|KIAA0586_uc001xdt.4_Silent_p.F1147F|KIAA0586_uc001xdv.4_Silent_p.F1115F|KIAA0586_uc010trt.2_Silent_p.F1051F NM_001244189 NP_001231118 E9PGW8 E9PGW8_HUMAN Homo sapiens KIAA0586 (KIAA0586), transcript variant 1, mRNA. 1115 endometrium(4)|kidney(6)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 GTATGGATTTCCCTGCTCAGC 0.483000 44 15 0 0 0.004007 0 0 ZNF808 388558 broad.mit.edu 37 19 53057071 53057071 + Missense_Mutation SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr19:53057071C>T uc010epq.1 + 4 1079 c.902C>T c.(901-903)tCc>tTc p.S301F 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. 301 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) TACAAGTCATCCCTTACATGC 0.398000 76 16 0 0 0.003163 0 0 CSMD3 114788 broad.mit.edu 37 8 113420569 113420569 + Silent SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr8:113420569C>T uc003ynu.3 - 33 5742 c.5583G>A c.(5581-5583)aaG>aaA p.K1861K CSMD3_uc003yns.3_Intron|CSMD3_uc003ynt.3_Silent_p.K1821K|CSMD3_uc011lhx.2_Silent_p.K1757K NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA. 1861 CUB 10. integral to membrane|plasma membrane p.A1860G(1)|p.A1860D(1) breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 AGTGAAATCCCTTAGCTGTTA 0.353000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 85 16 0 0 0.004990 0 0 AAK1 22848 broad.mit.edu 37 2 69707998 69707998 + Missense_Mutation SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr2:69707998G>A uc002sfp.2 - 18 3068 c.2563C>T c.(2563-2565)Cgc>Tgc p.R855C NM_014911 NP_055726 Q2M2I8 AAK1_HUMAN Homo sapiens AP2 associated kinase 1 (AAK1), mRNA. 855 coated pit|mitochondrion|plasma membrane ATP binding|protein serine/threonine kinase activity NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1) 17 TGACCTGTGCGATTCGAGGTC 0.552000 7 4 0 0 0.009096 0 0 MEP1B 4225 broad.mit.edu 37 18 29793248 29793248 + Silent SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr18:29793248G>A uc002kxj.4 + 10 1352 c.1305G>A c.(1303-1305)agG>agA p.R435R NM_005925 NP_005916 Q16820 MEP1B_HUMAN Homo sapiens meprin A, beta (MEP1B), mRNA. 435 MATH. digestion|proteolysis extracellular space|integral to plasma membrane metalloendopeptidase activity|zinc ion binding p.I434T(1) cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 GGCATATAAGGAATTTCACAC 0.433000 30 7 0 0 0.003080 0 0 FABP1 2168 broad.mit.edu 37 2 88425859 88425859 + Missense_Mutation SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr2:88425859C>T uc002sst.2 - 1 190 c.76G>A c.(76-78)Gaa>Aaa p.E26K NM_001443 NP_001434 P07148 FABPL_HUMAN Homo sapiens fatty acid binding protein 1, liver (FABP1), mRNA. 26 organ morphogenesis kidney(1)|large_intestine(1)|lung(2)|prostate(1)|stomach(1) 6 ATGAGCTCTTCCGGCAGACCT 0.527000 160 29 0 0 0.009535 0 0 ZNF454 285676 broad.mit.edu 37 5 178392621 178392621 + Missense_Mutation SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr5:178392621C>T uc003mjo.2 + 4 1517 c.1216C>T c.(1216-1218)Cac>Tac p.H406Y ZNF454_uc010jkz.2_Missense_Mutation_p.H406Y|ZNF454_uc021yjc.1_Missense_Mutation_p.H406Y NM_182594 NP_872400 Q8N9F8 ZN454_HUMAN Homo sapiens zinc finger protein 454 (ZNF454), transcript variant 2, mRNA. 406 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(11)|lung(18)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2) 46 all_cancers(89;0.000904)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351) all_cancers(40;0.225)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.234) TCGGAAAATTCACACTGGAGA 0.418000 40 8 0 0 0.006214 0 0 TKTL2 84076 broad.mit.edu 37 4 164394562 164394562 + Missense_Mutation SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr4:164394562C>T uc003iqp.4 - 0 486 c.325G>A c.(325-327)Gag>Aag p.E109K NM_032136 NP_115512 Q9H0I9 TKTL2_HUMAN Homo sapiens transketolase-like 2 (TKTL2), mRNA. 109 cytoplasm metal ion binding|transketolase activity breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1) 70 all_hematologic(180;0.166) Prostate(90;0.0959)|all_neural(102;0.223) GGGTGTCTCTCCAAGTCGCTG 0.532000 29 5 0 0 0.001168 0 0 CEP128 145508 broad.mit.edu 37 14 81382795 81382795 + Missense_Mutation SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr14:81382795G>A uc001xux.2 - 1 268 c.97C>T c.(97-99)Cct>Tct p.P33S CEP128_uc001xuz.2_Missense_Mutation_p.P33S|CEP128_uc001xva.1_Missense_Mutation_p.P33S|CEP128_uc010ata.1_Missense_Mutation_p.P33S NM_152446 NP_689659 Q6ZU80 CE128_HUMAN Homo sapiens centrosomal protein 128kDa (CEP128), mRNA. 33 centriole|spindle pole NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 51 TCTACTGTAGGAAGACTTCGA 0.428000 35 12 0 0 0.013537 0 0 NLRP7 199713 broad.mit.edu 37 19 55450616 55450616 + Missense_Mutation SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr19:55450616C>T uc002qih.4 - 3 1647 c.1571G>A c.(1570-1572)gGc>gAc p.G524D NLRP7_uc010esk.3_Missense_Mutation_p.G524D|NLRP7_uc002qig.4_Missense_Mutation_p.G524D|NLRP7_uc002qii.4_Missense_Mutation_p.G524D|NLRP7_uc010esl.3_Missense_Mutation_p.G552D NM_206828 NP_996611 Q8WX94 NALP7_HUMAN Homo sapiens NLR family, pyrin domain containing 7 (NLRP7), transcript variant 2, mRNA. 524 ATP binding p.G524S(1) 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) GTTAGCGAGGCCGAATAAGAA 0.532000 60 13 0 0 0.001855 0 0 TBC1D8B 54885 broad.mit.edu 37 X 106116850 106116850 + Silent SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chrX:106116850C>T uc004emo.3 + 20 3183 c.3018C>T c.(3016-3018)gaC>gaT p.D1006D MORC4_uc004emp.4_Intron NM_017752 NP_060222 Q0IIM8 TBC8B_HUMAN Homo sapiens TBC1 domain family, member 8B (with GRAM domain) (TBC1D8B), transcript variant 1, mRNA. 1006 intracellular Rab GTPase activator activity|calcium ion binding NS(2)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|liver(4)|lung(15)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 47 TTCATGAGGACCCTGAAGAAG 0.363000 38 12 0 0 0.010729 0 0 PCDH7 5099 broad.mit.edu 37 4 30723223 30723223 + Missense_Mutation SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr4:30723223G>A uc003gsk.1 + 0 1187 c.179G>A c.(178-180)gGa>gAa p.G60E PCDH7_uc011bxx.2_Missense_Mutation_p.G60E|PCDH7_uc021xnd.1_Missense_Mutation_p.G60E|PCDH7_uc021xnc.1_Missense_Mutation_p.G60E NM_002589 NP_002580 O60245 PCDH7_HUMAN Homo sapiens protocadherin 7 (PCDH7), transcript variant a, mRNA. 60 Cadherin 1. 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 ATCGTGACCGGATCGGGTGAG 0.677000 37 8 0 0 0.003080 0 0 HEATR8 374977 broad.mit.edu 37 1 55144997 55144997 + Missense_Mutation SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr1:55144997G>A uc010ooe.1 + 11 2435 c.2111G>A c.(2110-2112)gGg>gAg p.G704E HEATR8_uc001cxq.3_Non-coding_Transcript|HEATR8_uc010ooc.1_Missense_Mutation_p.G272E|HEATR8_uc010ood.1_Missense_Mutation_p.G222E|HEATR8_uc001cxs.2_Non-coding_Transcript|HEATR8_uc010oof.1_Non-coding_Transcript|HEATR8_uc001cxr.1_Non-coding_Transcript|HEATR8_uc010oog.1_Missense_Mutation_p.G704E|HEATR8_uc010ooh.1_Non-coding_Transcript|HEATR8_uc009vzq.1_Non-coding_Transcript|HEATR8_uc001cxt.1_Non-coding_Transcript NM_001039464 NP_001034553 Q68CQ1 HEAT8_HUMAN Homo sapiens HEAT repeat containing 8 (HEATR8), transcript variant 1, mRNA. 704 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 GCCCTGGAAGGGCTGAAAGGC 0.592000 92 20 0 0 0.007413 0 0 FRMPD3 84443 broad.mit.edu 37 X 106845751 106845751 + Silent SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chrX:106845751C>T uc022cce.1 + 0 2117 c.1749C>T c.(1747-1749)atC>atT p.I583I Q5JV73 FRPD3_HUMAN Homo sapiens mRNA for KIAA1817 protein, partial cds. 1527 cytoskeleton breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(16)|ovary(2)|urinary_tract(1) 28 GCTGCTCCATCCGCTACTGCT 0.572000 36 18 0 0 0.007413 0 0 HAP1 9001 broad.mit.edu 37 17 39883689 39883689 + Missense_Mutation SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr17:39883689G>A uc002hxm.1 - 8 1304 c.1292C>T c.(1291-1293)tCc>tTc p.S431F JUP_uc010wfs.2_Intron|HAP1_uc002hxn.1_Intron|HAP1_uc002hxo.1_Intron|HAP1_uc002hxp.1_Intron NM_177977 NP_817084 P54257 HAP1_HUMAN Homo sapiens huntingtin-associated protein 1 (HAP1), transcript variant 2, mRNA. 431 Glu-rich.|HAP1 N-terminal. brain development|protein localization|synaptic transmission actin cytoskeleton protein binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(4)|skin(1) 21 Breast(137;0.000162) BRCA - Breast invasive adenocarcinoma(4;0.0677) CTGCAGCTGGGAACCCACCCA 0.627000 48 8 0 0 0.004482 0 0 LINGO2 158038 broad.mit.edu 37 9 27949742 27949742 + Missense_Mutation SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr9:27949742G>A uc003zqv.1 - 6 1578 c.928C>T c.(928-930)Cgc>Tgc p.R310C LINGO2_uc010mjf.1_Missense_Mutation_p.R310C|LINGO2_uc003zqu.1_Missense_Mutation_p.R310C|LINGO2_uc022bfc.1_Missense_Mutation_p.R310C NM_152570 NP_689783 Q7L985 LIGO2_HUMAN Homo sapiens leucine rich repeat and Ig domain containing 2 (LINGO2), mRNA. 310 integral to membrane autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1) 44 Melanoma(11;0.242) all_neural(11;2.78e-09) UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604) TCAATGGTGCGAAGCTGGGCC 0.522000 67 14 0 0 0.003163 0 0 IL1R2 7850 broad.mit.edu 37 2 102626052 102626052 + Silent SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr2:102626052G>A uc002tbm.3 + 2 325 c.96G>A c.(94-96)ggG>ggA p.G32G IL1R2_uc002tbn.3_Silent_p.G32G|IL1R2_uc002tbo.1_Silent_p.G32G NM_004633 NP_775465 P27930 IL1R2_HUMAN Homo sapiens interleukin 1 receptor, type II (IL1R2), transcript variant 1, mRNA. 32 Ig-like C2-type 1. immune response integral to membrane|plasma membrane interleukin-1, Type II, blocking receptor activity breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1) 28 Anakinra(DB00026) GGTTTCGTGGGAGGCATTACA 0.602000 120 25 0 0 0.003954 0 0 TTLL13 440307 broad.mit.edu 37 15 90800928 90800928 + Silent SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr15:90800928C>T uc002bpd.1 + 7 1197 c.909C>T c.(907-909)gtC>gtT p.V303V TTLL13_uc002bpe.1_Non-coding_Transcript NM_001029964 NP_001025135 A6NNM8 TTL13_HUMAN Homo sapiens tubulin tyrosine ligase-like family, member 13 (TTLL13), mRNA. 303 TTL. protein modification process ATP binding|tubulin-tyrosine ligase activity NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|prostate(1) 16 Melanoma(11;0.00551)|Lung NSC(78;0.0178)|all_lung(78;0.0378) KIRC - Kidney renal clear cell carcinoma(17;0.0286)|BRCA - Breast invasive adenocarcinoma(143;0.0323)|Kidney(142;0.0514) AGAATTTTGTCCGGGATGGCG 0.522000 70 19 0 0 0.003954 0 0 ADCY7 113 broad.mit.edu 37 16 50335009 50335009 + Missense_Mutation SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr16:50335009G>A uc002egd.1 + 8 1520 c.1252G>A c.(1252-1254)Gag>Aag p.E418K ADCY7_uc002egb.1_Missense_Mutation_p.E418K|ADCY7_uc002egc.2_Missense_Mutation_p.E418K NM_001114 NP_001105 P51828 ADCY7_HUMAN Homo sapiens adenylate cyclase 7 (ADCY7), mRNA. 418 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to ethanol|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of cAMP biosynthetic process|synaptic transmission|transmembrane transport|water transport integral to membrane|plasma membrane ATP binding|adenylate cyclase activity|metal ion binding breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3) 35 all_cancers(37;0.0127) GBM - Glioblastoma multiforme(240;0.195) Bromocriptine(DB01200) GCACATCACGGAGGCCACGCT 0.652000 20 7 0 0 0.006214 0 0 DYSF 8291 broad.mit.edu 37 2 71840531 71840531 + Silent SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr2:71840531C>T uc010fen.3 + 39 4596 c.4455C>T c.(4453-4455)atC>atT p.I1485I DYSF_uc010fei.3_Silent_p.I1484I|DYSF_uc010feh.3_Silent_p.I1453I|DYSF_uc002sig.4_Silent_p.I1453I|DYSF_uc010yqx.2_Non-coding_Transcript|DYSF_uc010feg.3_Silent_p.I1498I|DYSF_uc010fee.3_Silent_p.I1467I|DYSF_uc010fef.3_Silent_p.I1484I|DYSF_uc002sie.3_Silent_p.I1467I|DYSF_uc010feo.3_Silent_p.I1499I|DYSF_uc010fej.3_Silent_p.I1454I|DYSF_uc010fel.3_Silent_p.I1454I|DYSF_uc010fem.3_Silent_p.I1468I|DYSF_uc002sif.3_Silent_p.I1468I|DYSF_uc010fek.3_Silent_p.I1485I|DYSF_uc010yqy.2_Silent_p.I348I|DYSF_uc010yqz.2_Silent_p.I207I NM_001130987 NP_001124459 O75923 DYSF_HUMAN Homo sapiens dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) (DYSF), transcript variant 1, mRNA. 1467 cytoplasmic vesicle membrane|integral to membrane|sarcolemma calcium-dependent phospholipid binding autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2) 111 AGCCCCTCATCCCCATCCAGG 0.582000 20 6 0 0 0.003080 0 0 ATP4A 495 broad.mit.edu 37 19 36044004 36044004 + Missense_Mutation SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr19:36044004C>T uc002oal.1 - 17 2715 c.2686G>A c.(2686-2688)Ggg>Agg p.G896R ATP4A_uc010eee.1_Missense_Mutation_p.G54R NM_000704 NP_000695 P20648 ATP4A_HUMAN Homo sapiens ATPase, H+/K+ exchanging, alpha polypeptide (ATP4A), mRNA. 896 ATP biosynthetic process|ATP hydrolysis coupled proton transport integral to plasma membrane ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 53 all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0724) Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831) GCCCGCAGCCCCACGCACAGC 0.642000 134 26 0 0 0.005443 0 0 C12orf51 283450 broad.mit.edu 37 12 112607316 112607316 + Missense_Mutation SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr12:112607316G>A uc021reb.1 - 69 12193 c.11797C>T c.(11797-11799)Cat>Tat p.H3933Y 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 CTGGTGCCATGGACCTCCTCG 0.617000 15 4 0 0 0.009096 0 0 PTPRD 5789 broad.mit.edu 37 9 8518269 8518269 + Silent SNP C T T rs137892356 TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr9:8518269C>T uc003zkk.3 - 20 1865 c.1122G>A c.(1120-1122)gcG>gcA p.A374A PTPRD_uc003zkp.3_Silent_p.A374A|PTPRD_uc003zkq.3_Silent_p.A374A|PTPRD_uc003zkr.3_Silent_p.A368A|PTPRD_uc003zks.3_Silent_p.A364A|PTPRD_uc022bdj.1_Silent_p.A371A NM_002839 NP_002830 P23468 PTPRD_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, D (PTPRD), transcript variant 1, mRNA. 374 Fibronectin type-III 1. transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity p.A374V(1) NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 168 all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824) all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119) AGCGTGTGGTCGCCACCCCAT 0.483000 TSP Lung(15;0.13) 106 18 0 0 0.008871 0 0 MGAM 8972 broad.mit.edu 37 7 141758047 141758047 + Silent SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr7:141758047C>T uc003vwy.3 + 30 3792 c.3738C>T c.(3736-3738)ttC>ttT p.F1246F NM_004668 NP_004659 O43451 MGA_HUMAN Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA. 1246 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) CTTTGGGGTTCCAGCTGTGTC 0.473000 271 59 0 0 0.014410 0 0 TRBV30 28557 broad.mit.edu 37 7 142510322 142510322 + Missense_Mutation SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr7:142510322G>A uc003wbp.2 - 1 396 c.284C>T c.(283-285)tCt>tTt p.S95F TRBV30_uc022aob.1_Non-coding_Transcript SubName: Full=V_segment translation product; Flags: Fragment; GAGCTTCTTAGAACTCAGGAT 0.557000 13 5 0 0 0.000602 0 0 TICAM1 148022 broad.mit.edu 37 19 4817259 4817259 + Silent SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr19:4817259G>A uc002mbi.3 - 1 1382 c.1131C>T c.(1129-1131)acC>acT p.T377T TICAM1_uc021unj.1_Silent_p.T377T NM_182919 NP_891549 Q8IUC6 TCAM1_HUMAN Homo sapiens toll-like receptor adaptor molecule 1 (TICAM1), mRNA. 377 I-kappaB kinase/NF-kappaB cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|apoptosis|inflammatory response|innate immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|endosome membrane|plasma membrane protein kinase binding|signal transducer activity NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 26 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139) GGGAGGAGGGGGTCAGGTGAG 0.557000 57 12 0 0 0.013537 0 0 UGT3A2 167127 broad.mit.edu 37 5 36049478 36049478 + Missense_Mutation SNP A G G TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr5:36049478A>G uc003jjz.2 - 3 488 c.356T>C c.(355-357)tTg>tCg p.L119S UGT3A2_uc011cos.2_Missense_Mutation_p.L85S|UGT3A2_uc011cot.2_Intron NM_174914 NP_777574 Q3SY77 UD3A2_HUMAN Homo sapiens UDP glycosyltransferase 3 family, polypeptide A2 (UGT3A2), transcript variant 1, mRNA. 119 integral to membrane glucuronosyltransferase activity p.A118A(1) NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3) 43 all_lung(31;0.000179) Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) ACTGCACTGCAACGCCAAGTA 0.299000 51 6 0 0 0.001984 0 0 DOCK8 81704 broad.mit.edu 37 9 441916 441916 + Silent SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr9:441916C>T uc003zgf.2 + 41 5509 c.5397C>T c.(5395-5397)ttC>ttT p.F1799F DOCK8_uc022bcu.1_Silent_p.F1731F|DOCK8_uc010mgv.3_Silent_p.F1699F|DOCK8_uc010mgu.3_Silent_p.F1101F|DOCK8_uc003zgk.2_Silent_p.F1257F NM_203447 NP_001180465 Q8NF50 DOCK8_HUMAN Homo sapiens dedicator of cytokinesis 8 (DOCK8), transcript variant 1, mRNA. 1799 DHR-2. blood coagulation cytosol GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 65 all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128) all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942) GAGTTGGTTTCTTTGGATCCA 0.408000 62 17 0 0 0.004990 0 0 DNAH9 1770 broad.mit.edu 37 17 11642272 11642272 + Missense_Mutation SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr17:11642272C>T uc002gne.3 + 28 5958 c.5890C>T c.(5890-5892)Cct>Tct p.P1964S DNAH9_uc010coo.3_Missense_Mutation_p.P1258S NM_001372 NP_001363 Q9NYC9 DYH9_HUMAN Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA. 1964 AAA 1 (By similarity). cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4) 290 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) CAGCCTGAATCCTTCTGTCGG 0.493000 45 10 0 0 0.006214 0 0 L32131 0 broad.mit.edu 37 17 58511487 58511487 + RNA SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr17:58511487G>A uc002iyr.1 - 0 c.1871C>T Homo sapiens cDNA FLJ33664 fis, clone BRAMY2027451, moderately similar to 60S RIBOSOMAL PROTEIN L12. CCAGGGGGCCGATCTTGGGGG 0.567000 13 8 0 0 0.003080 0 0 MYOCD 93649 broad.mit.edu 37 17 12655755 12655755 + Nonsense_Mutation SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr17:12655755C>T uc002gno.2 + 9 1449 c.1150C>T c.(1150-1152)Cga>Tga p.R384* MYOCD_uc002gnn.2_Nonsense_Mutation_p.R384*|MYOCD_uc002gnp.1_Nonsense_Mutation_p.R288*|MYOCD_uc002gnq.2_Nonsense_Mutation_p.R103* NM_001146312 NP_001139784 Q8IZQ8 MYCD_HUMAN Homo sapiens myocardin (MYOCD), transcript variant 1, mRNA. 384 SAP. cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation nucleus RNA polymerase II transcription factor binding transcription factor activity|nucleic acid binding|transcription factor binding p.R384Q(1) breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 70 UCEC - Uterine corpus endometrioid carcinoma (92;0.0969) ACAACAGCTTCGAATTCGGGG 0.453000 48 6 0 0 0.001984 0 0 CUTC 51076 broad.mit.edu 37 10 101514321 101514321 + Missense_Mutation SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr10:101514321C>T uc001kqd.4 + 7 785 c.637C>T c.(637-639)Ctt>Ttt p.L213F CUTC_uc001kqe.4_Non-coding_Transcript NM_015960 NP_057044 Q9NTM9 CUTC_HUMAN Homo sapiens cutC copper transporter homolog (E. coli) (CUTC), mRNA. 213 copper ion homeostasis|copper ion transport|protein tetramerization cytoplasm|nucleus copper ion binding p.L213I(2) breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 14 Colorectal(252;0.234) Epithelial(162;3e-10)|all cancers(201;2.37e-08) ACAAAGGATCCTTGAGGGTTC 0.353000 200 56 0 0 0.014410 0 0 PCDHGC5 56097 broad.mit.edu 37 5 140719379 140719379 + Silent SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr5:140719379C>T uc003ljk.2 + 0 1026 c.841C>T c.(841-843)Cta>Tta p.L281L PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc011dao.2_Silent_p.L281L NM_018915 NP_061738 Q9Y5F6 PCDGM_HUMAN Homo sapiens protocadherin gamma subfamily A, 2 (PCDHGA2), transcript variant 1, mRNA. 282 Cadherin 3. 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) GGTATATTTTCTAGAGAAAAG 0.468000 128 28 0 0 0.006320 0 0 TTN 7273 broad.mit.edu 37 2 179497685 179497685 + Silent SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr2:179497685C>T uc021vsy.1 - 182 35694 c.35469G>A c.(35467-35469)caG>caA p.Q11823Q MIR548N_uc021vsx.1_Intron|TTN_uc021vsz.1_Silent_p.Q5518Q|TTN_uc021vta.1_Silent_p.Q5451Q|TTN_uc021vtb.1_Silent_p.Q5326Q NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 12750 Glu-rich.|Pro-rich. 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) CATTAGCAGCCTGGAAGGAAA 0.443000 89 15 0 0 0.003163 0 0 GKAP1 80318 broad.mit.edu 37 9 86383828 86383828 + Missense_Mutation SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr9:86383828C>T uc004amy.3 - 7 1139 c.643G>A c.(643-645)Gat>Aat p.D215N GKAP1_uc004amz.3_Intron|GKAP1_uc011lsu.1_Non-coding_Transcript NM_025211 NP_079487 Q5VSY0 GKAP1_HUMAN Homo sapiens G kinase anchoring protein 1 (GKAP1), transcript variant 1, mRNA. 215 signal transduction Golgi apparatus endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|prostate(2) 14 TGAACATCATCTTCCAGTCTA 0.338000 44 10 0 0 0.008291 0 0 USP40 55230 broad.mit.edu 37 2 234442325 234442325 + Missense_Mutation SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr2:234442325C>T uc010zmr.2 - 9 1304 c.1304G>A c.(1303-1305)aGg>aAg p.R435K USP40_uc010zmt.1_Missense_Mutation_p.R79K NM_018218 NP_060688 Q9NVE5 UBP40_HUMAN Homo sapiens ubiquitin specific peptidase 40 (USP40), mRNA. 423 ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity breast(1)|endometrium(6)|kidney(5)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 30 Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0539) Epithelial(121;1.71e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000407)|Lung(119;0.00277)|LUSC - Lung squamous cell carcinoma(224;0.00646) CTGGTCATTCCTTTGGAAATC 0.398000 50 7 0 0 0.001984 0 0 TRIM3 10612 broad.mit.edu 37 11 6472626 6472626 + Nonsense_Mutation SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr11:6472626G>A uc001mdh.3 - 8 1972 c.1576C>T c.(1576-1578)Cga>Tga p.R526* TRIM3_uc001mdi.3_Nonsense_Mutation_p.R526*|TRIM3_uc010raj.2_Nonsense_Mutation_p.R407*|TRIM3_uc009yfd.3_Nonsense_Mutation_p.R526*|TRIM3_uc010rak.1_Nonsense_Mutation_p.R526* NM_006458 NP_006449 O75382 TRIM3_HUMAN Homo sapiens tripartite motif containing 3 (TRIM3), transcript variant 1, mRNA. 526 nervous system development|protein transport early endosome protein C-terminus binding|zinc ion binding p.R526*(2) breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(3) 27 all_lung(207;9.97e-06)|Lung NSC(207;1.74e-05)|Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212) Epithelial(150;9.34e-10)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.133)|BRCA - Breast invasive adenocarcinoma(625;0.135) GAGCGTCCTCGGACCCCAAAA 0.582000 78 31 0 0 0.009535 0 0 ALS2 57679 broad.mit.edu 37 2 202619388 202619388 + Missense_Mutation SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr2:202619388G>A uc002uyo.3 - 5 1834 c.1478C>T c.(1477-1479)cCc>cTc p.P493L ALS2_uc002uyp.4_Missense_Mutation_p.P493L|ALS2_uc002uyq.3_Missense_Mutation_p.P493L NM_020919 NP_065970 Q96Q42 ALS2_HUMAN Homo sapiens amyotrophic lateral sclerosis 2 (juvenile) (ALS2), transcript variant 1, mRNA. 493 cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity|protein homodimerization activity|protein serine/threonine kinase activator activity NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1) 72 TAAGAGCCTGGGGGAAACTGA 0.483000 49 10 0 0 0.008291 0 0 APEH 327 broad.mit.edu 37 3 49713214 49713214 + Silent SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr3:49713214C>T uc010hkw.1 + 3 760 c.360C>T c.(358-360)ttC>ttT p.F120F APEH_uc003cxf.3_Silent_p.F120F NM_001640 NP_001631 P13798 ACPH_HUMAN Homo sapiens N-acylaminoacyl-peptide hydrolase (APEH), mRNA. 120 proteolysis cytoplasm|nuclear membrane serine-type endopeptidase activity endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|stomach(2)|urinary_tract(1) 15 BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) AGAAGCAGTTCCTGGAGGTGA 0.587000 47 22 0 0 0.014323 0 0 LRRC52 440699 broad.mit.edu 37 1 165513753 165513753 + Missense_Mutation SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr1:165513753G>A uc001gde.2 + 0 276 c.220G>A c.(220-222)Gga>Aga p.G74R LOC400794_uc001gdc.2_Intron|LOC400794_uc001gdd.2_Intron|LOC400794_uc009wvd.3_Intron NM_001005214 NP_001005214 Q8N7C0 LRC52_HUMAN Homo sapiens leucine rich repeat containing 52 (LRRC52), mRNA. 74 integral to membrane NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1) 18 all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155) AATGCATCTAGGACTCCTCAG 0.478000 164 28 0 0 0.007291 0 0 TRAPPC12 51112 broad.mit.edu 37 2 3447553 3447553 + Missense_Mutation SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr2:3447553C>T uc002qxm.1 + 5 1627 c.1421C>T c.(1420-1422)tCc>tTc p.S474F TRAPPC12_uc002qxn.1_Missense_Mutation_p.S474F|TRAPPC12_uc010ewm.1_Missense_Mutation_p.S474F NM_016030 NP_057114 Q8WVT3 TTC15_HUMAN Homo sapiens trafficking protein particle complex 12 (TRAPPC12), mRNA. 474 binding ATTCCAGGCTCCATGGTCCCC 0.547000 30 5 0 0 0.000602 0 0 ANKRD36C 400986 broad.mit.edu 37 2 96593016 96593016 + RNA SNP C A A rs79307257 by1000genomes TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr2:96593016C>A uc010yug.1 - 26 c.1897G>T ANKRD36C_uc002sva.1_Non-coding_Transcript|ANKRD36C_uc002svc.1_Non-coding_Transcript Homo sapiens cDNA FLJ54441 complete cds, highly similar to Homo sapiens ankyrin repeat domain 36 (ANKRD36), mRNA. p.D629Y(1) breast(1)|endometrium(8)|kidney(5)|lung(4) 18 GAAACAGAATCTTTCTCATCA 0.318000 44 4 0.00909568 0.00981511 0.009096 1 0 ODZ3 55714 broad.mit.edu 37 4 183652127 183652127 + Missense_Mutation SNP T G G TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr4:183652127T>G uc003ivd.1 + 14 2877 c.2802T>G c.(2800-2802)aaT>aaG p.N934K ODZ3_uc003ive.1_Missense_Mutation_p.N340K NM_001080477 NP_001073946 Q9P273 TEN3_HUMAN Homo sapiens odz, odd Oz/ten-m homolog 3 (Drosophila) (ODZ3), mRNA. 934 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) TTCCATGGAATGTCTTTTATG 0.433000 37 4 0 0 0.009096 0 0 SLC22A8 9376 broad.mit.edu 37 11 62760752 62760752 + Missense_Mutation SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr11:62760752C>T uc009yon.3 - 10 1707 c.1586G>A c.(1585-1587)aGg>aAg p.R529K SLC22A8_uc001nwn.1_3'UTR|SLC22A8_uc009yom.3_Missense_Mutation_p.R406K|SLC22A8_uc001nwo.3_Missense_Mutation_p.R529K|SLC22A8_uc010rmm.2_Missense_Mutation_p.R438K|SLC22A8_uc001nwp.2_3'UTR NM_001184732 NP_001171665 Q8TCC7 S22A8_HUMAN Homo sapiens solute carrier family 22 (organic anion transporter), member 8 (SLC22A8), transcript variant 2, mRNA. 529 response to toxin basolateral plasma membrane|integral to plasma membrane|membrane fraction inorganic anion exchanger activity|organic anion transmembrane transporter activity endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 28 TAGAGGGATCCTCTGGGAGGC 0.612000 38 13 0 0 0.003163 0 0 LPAR4 2846 broad.mit.edu 37 X 78011344 78011344 + Silent SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chrX:78011344C>T uc022bzj.1 + 0 978 c.978C>T c.(976-978)gcC>gcT p.A326A LPAR4_uc010nme.3_Silent_p.A326A NM_005296 NP_005287 Q99677 LPAR4_HUMAN Homo sapiens lysophosphatidic acid receptor 4 (LPAR4), mRNA. 326 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 ACATCAATGCCCACATCAGAA 0.423000 32 13 0 0 0.003163 0 0 SEMA4G 57715 broad.mit.edu 37 10 102738085 102738085 + Missense_Mutation SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr10:102738085G>A uc001krw.2 + 4 853 c.469G>A c.(469-471)Gag>Aag p.E157K SEMA4G_uc001krv.3_Non-coding_Transcript|SEMA4G_uc010qpt.1_Missense_Mutation_p.E157K|SEMA4G_uc001krx.3_Missense_Mutation_p.E157K|MRPL43_uc001kry.1_3'UTR|MRPL43_uc010qpu.1_3'UTR NM_017893 NP_060363 Q9NTN9 SEM4G_HUMAN Homo sapiens sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4G (SEMA4G), transcript variant 1, mRNA. 157 Sema. cell differentiation|nervous system development integral to membrane receptor activity breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 25 Colorectal(252;0.234) Epithelial(162;3.71e-09)|all cancers(201;2.1e-07) AACCAGCTTCGAGGAGGGGAA 0.532000 17 4 0 0 0.000602 0 0 USH2A 7399 broad.mit.edu 37 1 215987180 215987180 + Missense_Mutation SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr1:215987180G>A uc001hku.1 - 48 10024 c.9637C>T c.(9637-9639)Ccg>Tcg p.P3213S NM_206933 NP_996816 O75445 USH2A_HUMAN Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA. 3213 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) AGAACAAACGGGATATACTTT 0.418000 HNSCC(13;0.011) 38 10 0 0 0.006214 0 0 TTN 7273 broad.mit.edu 37 2 179442511 179442511 + Missense_Mutation SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr2:179442511C>T uc021vsy.1 - 271 61163 c.60938G>A c.(60937-60939)cGa>cAa p.R20313Q MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.R14008Q|TTN_uc021vta.1_Missense_Mutation_p.R13941Q|TTN_uc021vtb.1_Missense_Mutation_p.R13816Q|AX746670_uc002umv.1_5'Flank NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 21240 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) AGGTAGATCTCGCTTCTCCAC 0.398000 60 10 0 0 0.010729 0 0 DBC1 1620 broad.mit.edu 37 9 121976369 121976369 + Silent SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr9:121976369G>A uc004bkc.2 - 5 1206 c.750C>T c.(748-750)atC>atT p.I250I DBC1_uc004bkd.2_Silent_p.I250I NM_014618 NP_055433 O60477 DBC1_HUMAN Homo sapiens deleted in bladder cancer 1 (DBC1), mRNA. 250 MACPF. cell cycle arrest|cell death cytoplasm protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 83 CATTGCACATGATATAGCTCA 0.512000 54 13 0 0 0.013537 0 0 MACF1 23499 broad.mit.edu 37 1 39824860 39824860 + Silent SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr1:39824860C>T uc021olw.1 + 10 7488 c.7488C>T c.(7486-7488)ctC>ctT p.L2496L MACF1_uc021ols.1_Silent_p.L1994L|MACF1_uc001cdc.2_Silent_p.L1994L|MACF1_uc021olt.1_Silent_p.L1994L|MACF1_uc001cda.1_Silent_p.L1902L|MACF1_uc001cdb.1_Silent_p.L1081L NM_012090 NP_036222 Q9UPN3 MACF1_HUMAN Homo sapiens microtubule-actin crosslinking factor 1 (MACF1), transcript variant 1, mRNA. 4061 Golgi to plasma membrane protein transport|Wnt receptor signaling pathway|cell cycle arrest|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|wound healing Golgi apparatus|microtubule|ruffle membrane ATPase activity|actin filament binding|calcium ion binding|microtubule binding breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10) 203 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) TGGAAAAACTCCAAAAAGTAG 0.408000 35 11 0 0 0.013537 0 0 ENAM 10117 broad.mit.edu 37 4 71509905 71509905 + Missense_Mutation SNP A G G TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr4:71509905A>G uc011caw.1 + 8 3043 c.2762A>G c.(2761-2763)gAt>gGt p.D921G NM_031889 NP_114095 Q9NRM1 ENAM_HUMAN Homo sapiens enamelin (ENAM), mRNA. 921 bone mineralization|odontogenesis proteinaceous extracellular matrix structural constituent of tooth enamel haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2) 6 Lung(101;0.235) CAGACAAGAGATATCATCTCC 0.493000 45 20 0 0 0.012319 0 0 CACNA1B 774 broad.mit.edu 37 9 140851251 140851251 + Silent SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr9:140851251G>A uc004cog.3 + 8 1360 c.1215G>A c.(1213-1215)agG>agA p.R405R CACNA1B_uc022bqn.1_Silent_p.R405R|CACNA1B_uc011mfd.2_Silent_p.R7R NM_000718 NP_000709 Q00975 CAC1B_HUMAN Homo sapiens calcium channel, voltage-dependent, N type, alpha 1B subunit (CACNA1B), transcript variant 1, mRNA. 405 membrane depolarization|synaptic transmission voltage-gated calcium channel complex ATP binding|protein C-terminus binding|voltage-gated calcium channel activity NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2) 80 all_cancers(76;0.166) OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476) Amlodipine(DB00381)|Gabapentin(DB00996) AGGAGGACAGGAATGCAGAGG 0.617000 58 14 0 0 0.003163 0 0 ANK1 286 broad.mit.edu 37 8 41547801 41547801 + Missense_Mutation SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr8:41547801C>T uc003xok.3 - 32 4132 c.4048G>A c.(4048-4050)Gag>Aag p.E1350K NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoh.3_Missense_Mutation_p.E666K|ANK1_uc003xoi.3_Missense_Mutation_p.E1350K|ANK1_uc003xoj.3_Missense_Mutation_p.E1350K|ANK1_uc003xol.3_Missense_Mutation_p.E1350K|ANK1_uc003xom.3_Missense_Mutation_p.E1391K NM_020476 NP_065209 P16157 ANK1_HUMAN Homo sapiens ankyrin 1, erythrocytic (ANK1), transcript variant 1, mRNA. 1350 axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 122 Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211) all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188) OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264) TGGGTGTCCTCGTACTTCATC 0.607000 54 14 0 0 0.001855 0 0 GRM3 2913 broad.mit.edu 37 7 86468214 86468214 + Missense_Mutation SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr7:86468214G>A uc003uid.3 + 3 2483 c.1384G>A c.(1384-1386)Gga>Aga p.G462R GRM3_uc010lef.3_Intron|GRM3_uc010leg.3_Missense_Mutation_p.G334R|GRM3_uc010leh.3_Missense_Mutation_p.G54R NM_000840 NP_000831 Q14832 GRM3_HUMAN Homo sapiens glutamate receptor, metabotropic 3 (GRM3), mRNA. 462 synaptic transmission integral to plasma membrane p.D461H(1)|p.G462V(1) NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5) 109 Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142) Acamprosate(DB00659)|Nicotine(DB00184) TTTTGGAGATGGAATGGGGCG 0.378000 27 9 0 0 0.004482 0 0 TRAF5 7188 broad.mit.edu 37 1 211545679 211545679 + Missense_Mutation SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr1:211545679C>T uc010psx.2 + 10 1427 c.1342C>T c.(1342-1344)Cgc>Tgc p.R448C TRAF5_uc001hih.3_Missense_Mutation_p.R437C|TRAF5_uc001hii.3_Missense_Mutation_p.R437C|TRAF5_uc010psy.2_Missense_Mutation_p.R331C|TRAF5_uc001hij.3_Missense_Mutation_p.R437C NM_001033910 NP_665702 O00463 TRAF5_HUMAN Homo sapiens TNF receptor-associated factor 5 (TRAF5), transcript variant 3, mRNA. 437 MATH. apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis CD40 receptor complex|centrosome|internal side of plasma membrane protein binding|ubiquitin-protein ligase activity|zinc ion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 OV - Ovarian serous cystadenocarcinoma(81;0.00946)|all cancers(67;0.0808)|Epithelial(68;0.144) CTACACCAGCCGCTGTGGCTA 0.537000 75 43 0 0 0.008740 0 0 PAK7 57144 broad.mit.edu 37 20 9561352 9561352 + Missense_Mutation SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr20:9561352C>T uc002wnl.2 - 4 975 c.430G>A c.(430-432)Gaa>Aaa p.E144K PAK7_uc002wnk.2_Missense_Mutation_p.E144K|PAK7_uc002wnj.2_Missense_Mutation_p.E144K|PAK7_uc010gby.1_Missense_Mutation_p.E144K NM_020341 NP_817127 Q9P286 PAK7_HUMAN Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 7 (PAK7), transcript variant 1, mRNA. 144 Linker. ATP binding|protein binding|protein serine/threonine kinase activity p.E144K(2)|p.T143T(1) NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3) 81 COAD - Colon adenocarcinoma(9;0.194) CTGTACTTTTCGGTCGTGTAG 0.512000 187 47 0 0 0.013114 0 0 FCGBP 8857 broad.mit.edu 37 19 40362950 40362950 + Silent SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr19:40362950C>T uc002omp.4 - 31 15128 c.15120G>A c.(15118-15120)gaG>gaA p.E5040E NM_003890 NP_003881 Q9Y6R7 FCGBP_HUMAN Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA. 5040 VWFD 12. 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) AGGGTGCAGTCTCCTCTGCCA 0.697000 59 7 0 0 0.003080 0 0 OR51D1 390038 broad.mit.edu 37 11 4661092 4661092 + Silent SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr11:4661092C>T uc010qyk.2 + 0 148 c.72C>T c.(70-72)ttC>ttT p.F24F NM_001004751 NP_001004751 Q8NGF3 O51D1_HUMAN Homo sapiens olfactory receptor, family 51, subfamily D, member 1 (OR51D1), mRNA. 24 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|liver(2)|lung(14)|prostate(1)|skin(2)|urinary_tract(1) 27 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;2.74e-13)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|GBM - Glioblastoma multiforme(2;0.0841)|LUSC - Lung squamous cell carcinoma(625;0.19) CAGCATACTTCCTTTTGGTGG 0.502000 142 21 0 0 0.008871 0 0 CCNB3 85417 broad.mit.edu 37 X 50052722 50052722 + Missense_Mutation SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chrX:50052722C>T uc004dox.4 + 5 1851 c.1553C>T c.(1552-1554)tCa>tTa p.S518L CCNB3_uc004doy.3_Missense_Mutation_p.S518L|CCNB3_uc004doz.3_Intron|CCNB3_uc010njq.3_Intron NM_033031 NP_149020 Q8WWL7 CCNB3_HUMAN Homo sapiens cyclin B3 (CCNB3), transcript variant 3, mRNA. 518 cell division|meiosis|regulation of G2/M transition of mitotic cell cycle|regulation of cyclin-dependent protein kinase activity nucleus protein kinase binding breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 75 Ovarian(276;0.236) GGAGAAAAGTCACTTATTAAG 0.408000 11 7 0 0 0.001984 0 0 COL3A1 1281 broad.mit.edu 37 2 189875011 189875011 + Missense_Mutation SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr2:189875011C>T uc002uqj.1 + 48 4048 c.3931C>T c.(3931-3933)Cca>Tca p.P1311S NM_000090 NP_000081 P02461 CO3A1_HUMAN Homo sapiens collagen, type III, alpha 1 (COL3A1), mRNA. 1311 Fibrillar collagen NC1. 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) TTTGAATGTTCCACGGAAACA 0.433000 55 12 0 0 0.010729 0 0 COL12A1 1303 broad.mit.edu 37 6 75890817 75890817 + Missense_Mutation SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr6:75890817C>T uc021zbv.1 - 9 2037 c.2002G>A c.(2002-2004)Gaa>Aaa p.E668K COL12A1_uc021zbw.1_Intron|COL12A1_uc003phs.3_Missense_Mutation_p.E668K|COL12A1_uc003pht.3_Intron|COL12A1_uc003phu.1_Missense_Mutation_p.E326K NM_004370 NP_004361 Q99715 COCA1_HUMAN Homo sapiens collagen, type XII, alpha 1 (COL12A1), transcript variant long, mRNA. 668 Fibronectin type-III 3. 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 CCAGCCGCTTCCTTGTAGGTG 0.458000 49 13 0 0 0.013537 0 0 C6 729 broad.mit.edu 37 5 41149459 41149459 + Missense_Mutation SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr5:41149459G>A uc003jmk.2 - 16 2717 c.2507C>T c.(2506-2508)tCc>tTc p.S836F C6_uc003jml.1_Missense_Mutation_p.S836F NM_000065 NP_001108603 P13671 CO6_HUMAN Homo sapiens complement component 6 (C6), transcript variant 1, mRNA. 836 C5b-binding domain.|Complement control factor I module 1.|Kazal-like 1. complement activation, classical pathway|cytolysis|innate immune response membrane attack complex protein binding central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2) 96 Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157) GTCTTGGCAGGAACCAATATG 0.423000 117 24 0 0 0.002780 0 0 SHANK2 22941 broad.mit.edu 37 11 70333293 70333293 + Silent SNP G A A rs115697891 byFrequency TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr11:70333293G>A uc001oqc.3 - 20 3019 c.2907C>T c.(2905-2907)atC>atT p.I969I SHANK2_uc010rqn.2_Silent_p.I445I|SHANK2_uc001opz.3_Silent_p.I440I|BC127192_uc009ysn.1_Intron|SHANK2_uc001opy.3_Intron NM_012309 NP_036441 Q9UPX8 SHAN2_HUMAN Homo sapiens SH3 and multiple ankyrin repeat domains 2 (SHANK2), transcript variant 1, mRNA. 656 intracellular signal transduction cell junction|cytoplasm|postsynaptic density|postsynaptic membrane GKAP/Homer scaffold activity|SH3 domain binding|ionotropic glutamate receptor binding NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 62 LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071) GCTCCTTCACGATGATGGTCG 0.677000 97 56 0 0 0.014410 0 0 ATP8B4 79895 broad.mit.edu 37 15 50288950 50288950 + Silent SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr15:50288950C>T uc001zxu.3 - 8 655 c.513G>A c.(511-513)acG>acA p.T171T ATP8B4_uc010ber.3_Silent_p.T44T|ATP8B4_uc010ufd.2_Silent_p.T44T|ATP8B4_uc010ufe.2_Non-coding_Transcript NM_024837 NP_079113 Q8TF62 AT8B4_HUMAN Homo sapiens ATPase, class I, type 8B, member 4 (ATP8B4), mRNA. 171 ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1) 73 all_lung(180;0.00183) all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05) CTTTTAGGTTCGTTTCCCTGT 0.408000 18 4 0 0 0.009096 0 0 TSHZ2 128553 broad.mit.edu 37 20 51872802 51872802 + Silent SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr20:51872802C>T uc002xwo.3 + 1 3692 c.2805C>T c.(2803-2805)ttC>ttT p.F935F TSHZ2_uc021wex.1_Silent_p.F932F NM_173485 NP_775756 Q9NRE2 TSH2_HUMAN Homo sapiens teashirt zinc finger homeobox 2 (TSHZ2), transcript variant 1, mRNA. 935 multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 84 STAD - Stomach adenocarcinoma(23;0.1) CCTCCCAGTTCAGAACCCCTT 0.488000 65 13 0 0 0.001855 0 0 GUCA1B 2979 broad.mit.edu 37 6 42152572 42152572 + Missense_Mutation SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr6:42152572C>T uc003orz.3 - 3 720 c.584G>A c.(583-585)cGg>cAg p.R195Q NM_002098 NP_002089 Q9UMX6 GUC1B_HUMAN Homo sapiens guanylate cyclase activator 1B (retina) (GUCA1B), mRNA. 195 body fluid secretion|cell-cell signaling|receptor guanylyl cyclase signaling pathway|visual perception plasma membrane calcium ion binding|calcium sensitive guanylate cyclase activator activity p.R194I(1) large_intestine(3)|lung(3)|skin(2) 8 Colorectal(47;0.196) Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|Epithelial(12;0.00154)|STAD - Stomach adenocarcinoma(11;0.00177) GGCACTTTTCCGTCTCTGCTG 0.582000 78 12 0 0 0.013537 0 0 SHROOM3 57619 broad.mit.edu 37 4 77660118 77660118 + Silent SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr4:77660118C>T uc011cbx.2 + 4 1745 c.792C>T c.(790-792)tcC>tcT p.S264S SHROOM3_uc011cbz.1_Silent_p.S88S|SHROOM3_uc003hkf.1_Silent_p.S139S|SHROOM3_uc003hkg.3_Silent_p.S42S NM_020859 NP_065910 Q8TF72 SHRM3_HUMAN Homo sapiens shroom family member 3 (SHROOM3), mRNA. 264 apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule actin binding NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1) 60 Lung(101;0.0903) GCTCTTTCTCCACCAGTTCTA 0.557000 31 8 0 0 0.003080 0 0 PDE12 201626 broad.mit.edu 37 3 57542496 57542496 + Silent SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr3:57542496G>A uc003diw.4 + 0 516 c.390G>A c.(388-390)gaG>gaA p.E130E PDE12_uc003div.3_Silent_p.E130E NM_177966 NP_808881 Q6L8Q7 PDE12_HUMAN Homo sapiens phosphodiesterase 12 (PDE12), mRNA. 130 hydrolase activity breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(4)|lung(3)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1) 20 KIRC - Kidney renal clear cell carcinoma(284;0.011)|Kidney(284;0.0127) ACCGGGAAGAGGCAGTGGCTG 0.662000 51 12 0 0 0.003163 0 0 SPARCL1 8404 broad.mit.edu 37 4 88416266 88416267 + Missense_Mutation DNP AA TC TC TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr4:88416266_88416267AA>TC uc010ikm.3 - 3 639_640 c.67_68TT>GA c.(67-69)tta>GAa p.L23E SPARCL1_uc011cdc.2_Intron|SPARCL1_uc003hqs.4_Missense_Mutation_p.L23E|SPARCL1_uc011cdd.2_5'UTR NM_001128310 NP_004675 Q14515 SPRL1_HUMAN Homo sapiens SPARC-like 1 (hevin) (SPARCL1), transcript variant 1, mRNA. 23 signal transduction extracellular space|proteinaceous extracellular matrix calcium ion binding breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(2) 21 OV - Ovarian serous cystadenocarcinoma(123;0.00118) ATCAGATAATAATCTTGCATTT 0.342000 75 12 0 0 0.004672 0 0 TRA 0 broad.mit.edu 37 14 22180939 22180939 + Missense_Mutation SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr14:22180939C>T uc021roz.1 + 1 219 c.211C>T c.(211-213)Ctt>Ttt p.L71F Homo sapiens mRNA for T cell receptor alpha variable 2, partial cds, clone: SEB 280. ACCAAGACTCCTTGTTAAAGG 0.502000 189 33 0 0 0.006230 0 0 RP1L1 94137 broad.mit.edu 37 8 10466676 10466676 + Silent SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr8:10466676C>T uc003wtc.3 - 3 5161 c.4932G>A c.(4930-4932)ggG>ggA p.G1644G NM_178857 NP_849188 A6NKC6 A6NKC6_HUMAN Homo sapiens retinitis pigmentosa 1-like 1 (RP1L1), mRNA. 1644 intracellular signal transduction breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3) 148 COAD - Colon adenocarcinoma(149;0.0811) CCAGCTGGCTCCCCAGGGCTG 0.687000 32 5 0 0 0.001168 0 0 IDO1 3620 broad.mit.edu 37 8 39776385 39776385 + Missense_Mutation SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr8:39776385G>A uc003xnm.3 + 3 469 c.355G>A c.(355-357)Gaa>Aaa p.E119K NM_002164 NP_002155 P14902 I23O1_HUMAN Homo sapiens indoleamine 2,3-dioxygenase 1 (IDO1), mRNA. 119 female pregnancy|tryptophan catabolic process cytosol electron carrier activity|heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(2) 12 L-Tryptophan(DB00150) CAAGAAACTGGAACTGCCTCC 0.358000 62 16 0 0 0.004007 0 0 CRLF2 64109 broad.mit.edu 37 X 1325440 1325440 + Missense_Mutation SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chrX:1325440C>T uc004cpk.2 - 2 237 c.235G>A c.(235-237)Ggt>Agt p.G79S CRLF2_uc022brt.1_Missense_Mutation_p.G79S|CRLF2_uc004cpl.2_5'UTR|CRLF2_uc022brs.1_Missense_Mutation_p.G79S NM_022148 NP_071431 Q9HC73 CRLF2_HUMAN Homo sapiens cytokine receptor-like factor 2 (CRLF2), transcript variant 1, mRNA. 79 extracellular region|integral to membrane|plasma membrane receptor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(10)|lung(9) 20 all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186) GAAGTGTGACCTTCCTGGAGA 0.502000 """Mis, T""" """P2RY8, IGH@""" """B-ALL, Downs associated ALL""" 60 11 0 0 0.010729 0 0 GLRA4 441509 broad.mit.edu 37 X 102974111 102974111 + Silent SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chrX:102974111G>A uc011mse.2 - 6 1228 c.807C>T c.(805-807)atC>atT p.I269I GLRA4_uc010nou.2_Silent_p.I269I NM_001024452 NP_001019623 Q5JXX5 GLRA4_HUMAN Homo sapiens glycine receptor, alpha 4 (GLRA4), transcript variant 1, mRNA. 269 cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity p.L268L(1) cervix(1)|endometrium(2)|large_intestine(2)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1) 21 ACAGGATGACGATGAGTAGGC 0.557000 55 40 0 0 0.010771 0 0 TBC1D3 729873 broad.mit.edu 37 17 36288254 36288254 + Missense_Mutation SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr17:36288254C>T uc010wdk.1 + 4 524 c.523C>T c.(523-525)Ctc>Ttc p.L175F TBC1D3_uc002hoo.2_Missense_Mutation_p.L114F|TBC1D3_uc002hop.2_Non-coding_Transcript|TBC1D3_uc010wdj.1_Missense_Mutation_p.L34F|TBC1D3_uc010cvf.1_Missense_Mutation_p.L114F|TBC1D3_uc002hoq.2_Missense_Mutation_p.L114F|DQ586040_uc002hpl.3_5'Flank|DQ587906_uc002hor.3_5'Flank|DQ585853_uc021tvy.1_5'Flank NM_032258 NP_115634 Q8IZP1 TBC3A_HUMAN Homo sapiens TBC1 domain family, member 3F (TBC1D3F), mRNA. 114 Rab-GAP TBC. intracellular Rab GTPase activator activity breast(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1) 5 Breast(7;2.97e-12) Breast(25;0.102)|Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) GTGGTCAGTCCTCCTGAACAC 0.567000 641 26 0 0 0.013726 0 0 MGC70870 403340 broad.mit.edu 37 GL000205.1 117245 117245 + RNA SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chrGL000205.1:117245C>T uc002kgk.4 + 0 c.623C>T Homo sapiens C-terminal binding protein 2 pseudogene (MGC70870), non-coding RNA. GAGGAATTCGCCCCCAGATCA 0.527000 49 4 0 0 0.009096 0 0 RNF123 63891 broad.mit.edu 37 3 49749921 49749921 + Silent SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr3:49749921C>T uc003cxh.3 + 26 2592 c.2506C>T c.(2506-2508)Ctg>Ttg p.L836L RNF123_uc010hky.1_Silent_p.L498L|RNF123_uc003cxi.3_Non-coding_Transcript NM_022064 NP_071347 Q5XPI4 RN123_HUMAN Homo sapiens ring finger protein 123 (RNF123), mRNA. 836 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) GGAGAAGATGCTGGACATCTA 0.627000 29 4 0 0 0.009096 0 0 SLC6A18 348932 broad.mit.edu 37 5 1244488 1244488 + Splice_Site SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr5:1244488G>A uc003jby.2 + 10 1619 c.1496_splice c.e10+1 p.R499_splice NM_182632 NP_872438 Q96N87 S6A18_HUMAN Homo sapiens solute carrier family 6, member 18 (SLC6A18), mRNA. 499 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) GGAATGAAACGGTGAGCTGCC 0.597000 68 10 0 0 0.008291 0 0 FAM135A 57579 broad.mit.edu 37 6 71269565 71269565 + Missense_Mutation SNP G C C TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr6:71269565G>C uc003pfj.3 + 19 4622 c.4489G>C c.(4489-4491)Gat>Cat p.D1497H FAM135A_uc003pfi.3_Missense_Mutation_p.D1301H|FAM135A_uc003pfh.3_Missense_Mutation_p.D1284H|FAM135A_uc003pfl.3_Missense_Mutation_p.D1164H|FAM135A_uc003pfn.3_Missense_Mutation_p.D703H|FAM135A_uc010kan.2_Missense_Mutation_p.D239H|FAM135A_uc003pfp.3_Missense_Mutation_p.D61H NM_001162529 NP_001156001 Q9P2D6 F135A_HUMAN Homo sapiens family with sequence similarity 135, member A (FAM135A), transcript variant 3, mRNA. 1497 breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 38 AGCTGTTCTTGATTCGGAAAT 0.378000 26 8 0 0 0.006214 0 0 ATP1A3 478 broad.mit.edu 37 19 42489163 42489163 + Silent SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr19:42489163G>A uc002osh.3 - 7 1054 c.900C>T c.(898-900)tcC>tcT p.S300S ATP1A3_uc010xwf.2_Silent_p.S311S|ATP1A3_uc010xwg.2_Silent_p.S270S|ATP1A3_uc002osg.3_Silent_p.S300S|ATP1A3_uc010xwh.2_Silent_p.S313S P13637 AT1A3_HUMAN Homo sapiens ATPase, Na+/K+ transporting, alpha 3 polypeptide (ATP1A3), transcript variant 1, mRNA. 300 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 CGAGAATGAGGGAGAGGATGA 0.572000 26 5 0 0 0.000602 0 0 PAPPA 5069 broad.mit.edu 37 9 118949433 118949433 + Splice_Site SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr9:118949433G>A uc004bjn.3 + 2 797 c.416_splice c.e2-1 p.G139_splice PAPPA_uc011lxp.1_Splice_Site|PAPPA_uc011lxq.2_Splice_Site NM_002581 NP_002572 Q13219 PAPP1_HUMAN Homo sapiens pregnancy-associated plasma protein A, pappalysin 1 (PAPPA), mRNA. 139 cell differentiation|female pregnancy cytoplasm|extracellular region|membrane metalloendopeptidase activity|zinc ion binding NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 98 GGCCACATAGGGCTGTATGAC 0.413000 45 13 0 0 0.013537 0 0 C12orf63 374467 broad.mit.edu 37 12 97133744 97133744 + Missense_Mutation SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr12:97133744G>A uc021rcc.1 + 17 2329 c.2251G>A c.(2251-2253)Gta>Ata p.V751I Q6ZTY8 CL063_HUMAN RecName: Full=Putative uncharacterized protein C12orf63; 751 breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2) 54 TGCTGCAATAGTATTTTCTAC 0.313000 30 4 0 0 0.009096 0 0 PDE7B 27115 broad.mit.edu 37 6 136470276 136470276 + Missense_Mutation SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr6:136470276C>T uc003qgp.3 + 4 673 c.370C>T c.(370-372)Cgc>Tgc p.R124C AJ606316_uc003qgq.1_Intron|PDE7B_uc003qgr.3_Missense_Mutation_p.R176C NM_018945 NP_061818 Q9NP56 PDE7B_HUMAN Homo sapiens phosphodiesterase 7B (PDE7B), mRNA. 124 signal transduction|synaptic transmission cytosol 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding breast(1)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 21 Colorectal(23;0.24) OV - Ovarian serous cystadenocarcinoma(155;0.0136)|GBM - Glioblastoma multiforme(68;0.0147) Dyphylline(DB00651)|Ketotifen(DB00920) CTTGTTTGATCGCTTGACAAA 0.338000 35 9 0 0 0.006214 0 0 TRPC6 7225 broad.mit.edu 37 11 101347072 101347072 + Silent SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr11:101347072C>T uc001pgk.4 - 5 2129 c.1704G>A c.(1702-1704)acG>acA p.T568T TRPC6_uc009ywy.3_Silent_p.T452T|TRPC6_uc009ywz.1_Silent_p.T513T NM_004621 NP_004612 Q9Y210 TRPC6_HUMAN Homo sapiens transient receptor potential cation channel, subfamily C, member 6 (TRPC6), mRNA. 568 axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity integral to membrane|plasma membrane protein binding p.T568T(2)|p.T568M(1) autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162) BRCA - Breast invasive adenocarcinoma(274;0.0442) ATGTTACTTTCGTCAAGTCCT 0.363000 24 7 0 0 0.003080 0 0 LRRC16B 90668 broad.mit.edu 37 14 24534935 24534935 + Silent SNP T C C TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr14:24534935T>C uc001wlj.2 + 33 3658 c.3501T>C c.(3499-3501)ggT>ggC p.G1167G LRRC16B_uc001wlk.2_Intron NM_138360 NP_612369 Q8ND23 LR16B_HUMAN Homo sapiens leucine rich repeat containing 16B (LRRC16B), mRNA. 1167 breast(3)|central_nervous_system(2)|cervix(3)|endometrium(7)|kidney(1)|large_intestine(9)|liver(1)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4) 52 GBM - Glioblastoma multiforme(265;0.019) GAGCCAAGGGTTGGAGCTTCG 0.622000 82 22 0 0 0.002780 0 0 ENTHD1 150350 broad.mit.edu 37 22 40139867 40139867 + Silent SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr22:40139867G>A uc003ayg.3 - 6 1892 c.1641C>T c.(1639-1641)tcC>tcT p.S547S NM_152512 NP_689725 Q8IYW4 ENTD1_HUMAN Homo sapiens ENTH domain containing 1 (ENTHD1), mRNA. 547 breast(2)|endometrium(1)|kidney(6)|large_intestine(6)|lung(11)|ovary(3)|skin(3) 32 Melanoma(58;0.0749) GAACACTAATGGAATTCTTTG 0.423000 25 7 0 0 0.001984 0 0 KIAA1383 54627 broad.mit.edu 37 1 232940933 232940933 + Missense_Mutation SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr1:232940933C>T uc001hvh.2 + 0 296 c.164C>T c.(163-165)cCa>cTa p.P55L NM_019090 NP_061963 Q9P2G4 K1383_HUMAN Homo sapiens KIAA1383 (KIAA1383), mRNA. 0 breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(1) 20 all_cancers(173;0.00528)|Prostate(94;0.122)|all_epithelial(177;0.169) TGTCTTTTACCACTTATATCC 0.378000 148 35 0 0 0.006230 0 0 GPR39 2863 broad.mit.edu 37 2 133402923 133402923 + Missense_Mutation SNP A G G TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr2:133402923A>G uc002ttl.3 + 1 1575 c.1106A>G c.(1105-1107)aAc>aGc p.N369S LYPD1_uc002ttm.4_3'UTR|LYPD1_uc002ttn.3_3'UTR|LYPD1_uc002tto.3_3'UTR NM_001508 NP_001499 O43194 GPR39_HUMAN Homo sapiens G protein-coupled receptor 39 (GPR39), mRNA. 369 integral to plasma membrane G-protein coupled receptor activity|metal ion binding breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 CAGCACGCCAACCACGAGAAG 0.667000 61 18 0 0 0.004990 0 0 PCDHB7 56129 broad.mit.edu 37 5 140553189 140553189 + Missense_Mutation SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr5:140553189G>A uc003lit.3 + 0 947 c.773G>A c.(772-774)gGt>gAt p.G258D NM_018940 NP_061763 Q9Y5E2 PCDB7_HUMAN Homo sapiens protocadherin beta 7 (PCDHB7), mRNA. 258 Cadherin 3. 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) AGCCCCGTTGGTTCCATGGTT 0.498000 59 9 0 0 0.006214 0 0 THSD7B 80731 broad.mit.edu 37 2 137872758 137872758 + Missense_Mutation SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr2:137872758C>T uc002tva.1 + 3 1171 c.1171C>T c.(1171-1173)Ccc>Tcc p.P391S THSD7B_uc010zbj.1_Intron|THSD7B_uc002tvb.3_Missense_Mutation_p.P281S 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) GCAGCAGGATCCCCACTGGCA 0.542000 32 8 0 0 0.004482 0 0 FANCB 2187 broad.mit.edu 37 X 14863068 14863068 + Missense_Mutation SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chrX:14863068G>A uc004cwg.1 - 7 2105 c.1837C>T c.(1837-1839)Cgt>Tgt p.R613C FANCB_uc004cwh.1_Missense_Mutation_p.R613C NM_001018113 NP_689846 Q8NB91 FANCB_HUMAN Homo sapiens Fanconi anemia, complementation group B (FANCB), transcript variant 1, mRNA. 613 DNA repair nucleoplasm NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|skin(1)|upper_aerodigestive_tract(1) 24 Hepatocellular(33;0.183) ACAACATAACGATCTTTAGGA 0.353000 Involved in tolerance or repair of DNA crosslinks Fanconi Anemia 60 51 0 0 0.014410 0 0 SGCZ 137868 broad.mit.edu 37 8 14181710 14181710 + Missense_Mutation SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr8:14181710C>T uc003wwq.3 - 2 898 c.238G>A c.(238-240)Ggt>Agt p.G80S SGCZ_uc010lss.3_Intron NM_139167 NP_631906 Q96LD1 SGCZ_HUMAN Homo sapiens sarcoglycan, zeta (SGCZ), mRNA. 67 cytoskeleton organization cytoplasm|cytoskeleton|integral to membrane|sarcolemma p.G80F(2) 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) TTTCCCATACCATCCTACAAG 0.363000 36 9 0 0 0.006214 0 0 PDZRN3 23024 broad.mit.edu 37 3 73440172 73440172 + Missense_Mutation SNP A C C TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr3:73440172A>C uc003dpl.1 - 5 1446 c.1350T>G c.(1348-1350)agT>agG p.S450R PDZRN3_uc011bgh.1_Missense_Mutation_p.S107R|PDZRN3_uc010hoe.1_Missense_Mutation_p.S148R|PDZRN3_uc011bgf.1_Missense_Mutation_p.S167R|PDZRN3_uc011bgg.1_Missense_Mutation_p.S170R NM_015009 NP_055824 Q9UPQ7 PZRN3_HUMAN Homo sapiens PDZ domain containing ring finger 3 (PDZRN3), mRNA. 450 PDZ 2. ubiquitin-protein ligase activity|zinc ion binding breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 69 Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236) BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134) TTTGTACCTCACTGATATAAA 0.443000 155 46 0 0 0.014410 0 0 MYT1 4661 broad.mit.edu 37 20 62848451 62848451 + Missense_Mutation SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr20:62848451C>T uc002yii.3 + 10 2027 c.1663C>T c.(1663-1665)Cct>Tct p.P555S MYT1_uc002yih.3_Missense_Mutation_p.P257S|MYT1_uc002yij.3_Missense_Mutation_p.P187S NM_004535 NP_004526 Q01538 MYT1_HUMAN Homo sapiens myelin transcription factor 1 (MYT1), mRNA. 555 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) GCTCGAGGTCCCTCCATATGG 0.632000 93 15 0 0 0.004007 0 0 LRRC7 57554 broad.mit.edu 37 1 70225938 70225938 + Silent SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr1:70225938C>T uc001dep.3 + 0 81 c.51C>T c.(49-51)ttC>ttT p.F17F LRRC7_uc001deo.1_Silent_p.F55F|LRRC7_uc009wbg.3_5'UTR NM_020794 NP_065845 Q96NW7 LRRC7_HUMAN Homo sapiens leucine rich repeat containing 7 (LRRC7), mRNA. 17 centrosome|focal adhesion|nucleolus protein binding breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 162 GCCGATGTTTCCGAGGTGAAG 0.468000 25 9 0 0 0.006214 0 0 KIF20B 9585 broad.mit.edu 37 10 91474907 91474907 + Missense_Mutation SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr10:91474907C>T uc001kgs.1 + 7 980 c.908C>T c.(907-909)tCc>tTc p.S303F KIF20B_uc001kgr.1_Missense_Mutation_p.S303F NM_016195 NP_057279 Q96Q89 KI20B_HUMAN Homo sapiens kinesin family member 20B (KIF20B), mRNA. 303 Kinesin-motor. cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis centrosome|microtubule|nucleolus|nucleoplasm|spindle ATP binding|ATPase activity|WW domain binding|microtubule motor activity endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1) 58 CTGCGCCTTTCCCAAGACGTA 0.328000 33 7 0 0 0.003080 0 0 OR51M1 390059 broad.mit.edu 37 11 5411114 5411114 + Silent SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr11:5411114C>T uc010qzc.2 + 0 508 c.486C>T c.(484-486)ttC>ttT p.F162F HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Intron NM_001004756 NP_001004756 B2RNI9 B2RNI9_HUMAN Homo sapiens olfactory receptor, family 51, subfamily M, member 1 (OR51M1), mRNA. 162 integral to membrane olfactory receptor activity NS(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|upper_aerodigestive_tract(1) 30 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;1.98e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) TTGTCATCTTCCGGGGACCTG 0.542000 231 55 0 0 0.014410 0 0 FGD6 55785 broad.mit.edu 37 12 95603226 95603226 + Missense_Mutation SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr12:95603226C>T uc001tdp.4 - 1 2058 c.1834G>A c.(1834-1836)Gaa>Aaa p.E612K FGD6_uc009zsx.3_Intron NM_018351 NP_060821 Q6ZV73 FGD6_HUMAN Homo sapiens FYVE, RhoGEF and PH domain containing 6 (FGD6), mRNA. 612 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 GTGCACTTTTCCACATCCATA 0.413000 119 27 0 0 0.006320 0 0 CSMD2 114784 broad.mit.edu 37 1 34080129 34080129 + Nonsense_Mutation SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr1:34080129C>T uc001bxm.1 - 39 6285 c.6108G>A c.(6106-6108)tgG>tgA p.W2036* CSMD2_uc001bxn.1_Nonsense_Mutation_p.W1996*|CSMD2_uc001bxo.1_Nonsense_Mutation_p.W909* NM_052896 NP_443128 Q7Z408 CSMD2_HUMAN Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA. 1996 CUB 12. 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) GTGCTATTTTCCAGGAGCAGT 0.567000 26 4 0 0 0.009096 0 0 ANKRD20A4 728747 broad.mit.edu 37 9 69424032 69424032 + Silent SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr9:69424032C>T uc004afn.3 + 14 2440 c.2328C>T c.(2326-2328)ttC>ttT p.F776F NM_001098805 NP_001092275 Q4UJ75 A20A4_HUMAN Homo sapiens ankyrin repeat domain 20 family, member A4 (ANKRD20A4), mRNA. 776 breast(1)|large_intestine(1)|liver(1)|lung(9)|pancreas(2)|skin(2) 16 AGAAAGACTTCGTGCTAGAAG 0.348000 72 40 0 0 0.006999 0 0 KRTAP27-1 643812 broad.mit.edu 37 21 31709534 31709534 + Silent SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr21:31709534G>A uc002ynx.1 - 0 479 c.453C>T c.(451-453)ttC>ttT p.F151F NM_001077711 NP_001071179 Q3LI81 KR271_HUMAN Homo sapiens keratin associated protein 27-1 (KRTAP27-1), mRNA. 151 intermediate filament p.F151F(4)|p.F151S(1) endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|skin(1) 18 CCAGAGTTTCGAAATTTTTAG 0.493000 151 38 0 0 0.006999 0 0 COL2A1 1280 broad.mit.edu 37 12 48369372 48369372 + Missense_Mutation SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr12:48369372G>A uc001rqu.3 - 50 3795 c.3614C>T c.(3613-3615)cCt>cTt p.P1205L COL2A1_uc001rqt.3_5'UTR|COL2A1_uc009zkw.3_Non-coding_Transcript|COL2A1_uc001rqv.3_Missense_Mutation_p.P1136L NM_001844 NP_001835 P02458 CO2A1_HUMAN Homo sapiens collagen, type II, alpha 1 (COL2A1), transcript variant 1, mRNA. 1205 Triple-helical region. axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception collagen type II identical protein binding|platelet-derived growth factor binding p.E1204D(1) NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3) 64 Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214) Collagenase(DB00048) AGGGGGTCCAGGATTTCCAGG 0.597000 40 4 0 0 0.001168 0 0 ZFPM2 23414 broad.mit.edu 37 8 106813400 106813400 + Nonsense_Mutation SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr8:106813400C>T uc003ymd.3 + 7 1113 c.1090C>T c.(1090-1092)Cga>Tga p.R364* ZFPM2_uc011lhs.2_Nonsense_Mutation_p.R95* NM_012082 NP_036214 Q8WW38 FOG2_HUMAN Homo sapiens zinc finger protein, multitype 2 (ZFPM2), mRNA. 364 blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis nucleoplasm DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 99 OV - Ovarian serous cystadenocarcinoma(57;8.28e-08) AGCTGCCTTCCGATGTAATCA 0.507000 144 24 0 0 0.003954 0 0 CCDC170 80129 broad.mit.edu 37 6 151939132 151939132 + Silent SNP C A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr6:151939132C>A uc003qol.3 + 10 2087 c.1998C>A c.(1996-1998)acC>acA p.T666T U6_uc021zgw.1_5'Flank NM_025059 NP_079335 Q8IYT3 CF097_HUMAN Homo sapiens chromosome 6 open reading frame 97 (C6orf97), mRNA. 666 TGAACGTGACCAGCCTTGCTC 0.443000 73 7 0.000274275 0.000297651 0.004482 1 0 FAM113B 91523 broad.mit.edu 37 12 47629132 47629132 + Missense_Mutation SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr12:47629132C>T uc001rpq.3 + 1 811 c.286C>T c.(286-288)Cgc>Tgc p.R96C FAM113B_uc001rpn.3_Missense_Mutation_p.R96C|FAM113B_uc021qxi.1_Missense_Mutation_p.R96C NM_138371 NP_612380 Q96HM7 F113B_HUMAN Homo sapiens family with sequence similarity 113, member B (FAM113B), mRNA. 96 hydrolase activity NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(10) 35 Renal(347;0.138)|Lung SC(27;0.192) CTTCCTCACCCGCGTGTACTC 0.597000 128 20 0 0 0.012319 0 0 NLRP2 55655 broad.mit.edu 37 19 55489158 55489158 + Missense_Mutation SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr19:55489158G>A uc021vbq.1 + 3 475 c.364G>A c.(364-366)Gaa>Aaa p.E122K NLRP2_uc010yfp.2_Missense_Mutation_p.E99K|NLRP2_uc002qij.3_Missense_Mutation_p.E122K|NLRP2_uc010esp.3_Missense_Mutation_p.E122K|NLRP2_uc010esn.3_Intron|NLRP2_uc010eso.3_Missense_Mutation_p.E122K NM_001174081 NP_060322 Q9NX02 NALP2_HUMAN Homo sapiens NLR family, pyrin domain containing 2 (NLRP2), transcript variant 2, mRNA. 122 apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion cytoplasm ATP binding|Pyrin domain binding large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3) 11 BRCA - Breast invasive adenocarcinoma(297;0.163) GBM - Glioblastoma multiforme(193;0.028) AGACGTGGACGAAATGCTGGA 0.552000 50 21 0 0 0.014323 0 0 CDHR2 54825 broad.mit.edu 37 5 176022617 176022617 + Missense_Mutation SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr5:176022617G>A uc021yie.1 + 31 4151 c.3877G>A c.(3877-3879)Gga>Aga p.G1293R CDHR2_uc003mem.2_Missense_Mutation_p.G1293R|CDHR2_uc003men.1_Missense_Mutation_p.G1293R NM_001171976 NP_060145 Q9BYE9 CDHR2_HUMAN Homo sapiens cadherin-related family member 2 (CDHR2), transcript variant 1, mRNA. 1293 homophilic cell adhesion|negative regulation of cell growth apical plasma membrane|cell junction|integral to membrane calcium ion binding|protein binding breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1) 56 AGGCGCAAGTGGACAGCTGGA 0.652000 112 31 0 0 0.012213 0 0 SPP1 6696 broad.mit.edu 37 4 88903754 88903754 + Nonsense_Mutation SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr4:88903754G>A uc003hra.3 + 6 816 c.651G>A c.(649-651)tgG>tgA p.W217* SPP1_uc011cde.2_Nonsense_Mutation_p.W230*|SPP1_uc003hrb.3_Nonsense_Mutation_p.W190*|SPP1_uc003hrc.3_Nonsense_Mutation_p.W203*|SPP1_uc003hrd.3_Nonsense_Mutation_p.W176* NM_001040058 NP_001035147 P10451 OSTP_HUMAN Homo sapiens secreted phosphoprotein 1 (SPP1), transcript variant 1, mRNA. 217 biomineral tissue development|cell adhesion|decidualization|embryo implantation|ossification|response to vitamin D extracellular space cytokine activity NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(3)|skin(1) 13 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;9.87e-05) CTTCTGATTGGGACAGCCGTG 0.532000 87 28 0 0 0.009535 0 0 UGT2A1 10941 broad.mit.edu 37 4 70513009 70513009 + Silent SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr4:70513009G>A uc011caq.2 - 1 470 c.354C>T c.(352-354)ttC>ttT p.F118F UGT2A1_uc010ihu.3_Silent_p.F118F|UGT2A1_uc003hem.4_Silent_p.F118F|UGT2A1_uc010iht.3_Silent_p.F118F NM_001252274 NP_001239203 Q9Y4X1 UD2A1_HUMAN Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus (UGT2A1), transcript variant 2, mRNA. 118 detection of chemical stimulus|sensory perception of smell integral to membrane glucuronosyltransferase activity NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2) 30 ACACCATGTGGAAGTCCTTGA 0.428000 43 11 0 0 0.013537 0 0 NAA30 122830 broad.mit.edu 37 14 57876110 57876110 + Missense_Mutation SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr14:57876110C>T uc001xcx.4 + 4 1119 c.965C>T c.(964-966)aCc>aTc p.T322I NAA30_uc010trk.2_Missense_Mutation_p.T64I|NAA30_uc010aow.3_Non-coding_Transcript NM_001011713 NP_001011713 Q147X3 NAA30_HUMAN Homo sapiens N(alpha)-acetyltransferase 30, NatC catalytic subunit (NAA30), mRNA. 322 N-acetyltransferase. cytoplasm peptide alpha-N-acetyltransferase activity endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(2)|skin(2) 13 GTTTTGGAAACCGAAATAACA 0.269000 23 5 0 0 0.000602 0 0 ANKRD30A 91074 broad.mit.edu 37 10 37508193 37508193 + Nonsense_Mutation SNP A T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr10:37508193A>T uc021ppc.1 + 33 3484 c.3385A>T c.(3385-3387)Aaa>Taa p.K1129* ANKRD30A_uc001iza.1_Nonsense_Mutation_p.K1129* NM_052997 NP_443723 Q9BXX3 AN30A_HUMAN Homo sapiens ankyrin repeat domain 30A (ANKRD30A), mRNA. 1185 nucleus DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3) 158 ATTGAAGGAAAAACAAGACAA 0.373000 77 10 0 0 0.006214 0 0 ARL4D 379 broad.mit.edu 37 17 41477377 41477377 + Missense_Mutation SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr17:41477377C>T uc002idt.3 + 1 458 c.277C>T c.(277-279)Cgg>Tgg p.R93W ARL4D_uc021txy.1_Missense_Mutation_p.R93W NM_001661 NP_001652 P49703 ARL4D_HUMAN Homo sapiens ADP-ribosylation factor-like 4D (ARL4D), mRNA. 93 protein secretion|small GTPase mediated signal transduction cytoplasm|nucleolus|plasma membrane GTP binding|GTPase activity|protein binding endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1) 8 Breast(137;0.00908) BRCA - Breast invasive adenocarcinoma(366;0.155) TTATACCCGCCGGACAGACGG 0.652000 76 13 0 0 0.004007 0 0 KLHL17 339451 broad.mit.edu 37 1 898516 898516 + Missense_Mutation SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr1:898516G>A uc001aca.2 + 6 1177 c.1070G>A c.(1069-1071)gGa>gAa p.G357E KLHL17_uc001acc.2_Non-coding_Transcript|KLHL17_uc010nyb.1_Missense_Mutation_p.E106K NM_198317 NP_938073 Q6TDP4 KLH17_HUMAN Homo sapiens kelch-like 17 (Drosophila) (KLHL17), mRNA. 357 Interaction with F-actin (By similarity). actin cytoskeleton organization actin cytoskeleton|cell junction|postsynaptic density|postsynaptic membrane protein complex scaffold central_nervous_system(1)|kidney(2)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 10 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;9.48e-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) UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.52e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.59e-23)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000469)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199) GCCATCCACGGAGACTGTGAG 0.711000 25 4 0 0 0.009096 0 0 PRAMEF1 65121 broad.mit.edu 37 1 12855737 12855737 + Silent SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr1:12855737C>T uc001auj.2 + 3 1120 c.1017C>T c.(1015-1017)ccC>ccT p.P339P NM_023013 NP_075389 O95521 PRAM1_HUMAN Homo sapiens PRAME family member 1 (PRAMEF1), mRNA. 339 cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 35 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) 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) GTCTTGAACCCCTCGGAGCTC 0.532000 187 35 0 0 0.008740 0 0 PKIA 5569 broad.mit.edu 37 8 79510760 79510760 + Silent SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr8:79510760C>T uc003yba.3 + 2 665 c.141C>T c.(139-141)atC>atT p.I47I PKIA_uc003ybb.3_Silent_p.I47I|PKIA_uc010lzo.3_Silent_p.I47I NM_006823 NP_862822 P61925 IPKA_HUMAN Homo sapiens protein kinase (cAMP-dependent, catalytic) inhibitor alpha (PKIA), transcript variant 1, mRNA. 47 cAMP-dependent protein kinase inhibitor activity central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|pancreas(1) 6 GTCTTGATATCAACAAGACAG 0.408000 78 14 0 0 0.004007 0 0 TMEM132A 54972 broad.mit.edu 37 11 60702230 60702230 + Silent SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr11:60702230C>T uc001nqi.3 + 8 2026 c.1833C>T c.(1831-1833)tcC>tcT p.S611S TMEM132A_uc001nqj.3_Silent_p.S610S NM_017870 NP_060340 Q24JP5 T132A_HUMAN Homo sapiens transmembrane protein 132A (TMEM132A), transcript variant 1, mRNA. 610 Binds to HSPA5/GRP78 (By similarity). Golgi membrane|endoplasmic reticulum membrane|integral to membrane breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3) 32 GTGTCACCTCCATTGAGGTAA 0.662000 54 9 0 0 0.013537 0 0 TNR 7143 broad.mit.edu 37 1 175332868 175332868 + Nonsense_Mutation SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr1:175332868G>A uc001gkp.1 - 10 2764 c.2683C>T c.(2683-2685)Cga>Tga p.R895* TNR_uc009wwu.1_Nonsense_Mutation_p.R895* NM_003285 NP_003276 Q92752 TENR_HUMAN Homo sapiens tenascin R (restrictin, janusin) (TNR), mRNA. 895 Fibronectin type-III 7. axon guidance|cell adhesion|signal transduction proteinaceous extracellular matrix p.R895*(2) 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) TATGATACTCGGTAGTAATCG 0.438000 52 9 0 0 0.006214 0 0 GABRE 2564 broad.mit.edu 37 X 151128326 151128326 + Missense_Mutation SNP T A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chrX:151128326T>A uc004ffi.3 - 5 823 c.769A>T c.(769-771)Atc>Ttc p.I257F GABRE_uc011myd.2_Non-coding_Transcript|GABRE_uc011mye.1_Non-coding_Transcript|MIR452_uc022cgx.1_5'Flank NM_004961 NP_004952 P78334 GBRE_HUMAN Homo sapiens gamma-aminobutyric acid (GABA) A receptor, epsilon (GABRE), mRNA. 257 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1) 27 Acute lymphoblastic leukemia(192;6.56e-05) GGGGTTGTGATTATTTCAGTT 0.448000 17 17 0 0 0.007413 0 0 WDR33 55339 broad.mit.edu 37 2 128477054 128477054 + Missense_Mutation SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr2:128477054G>A uc002tpg.2 - 15 2744 c.2545C>T c.(2545-2547)Ccc>Tcc p.P849S NM_018383 NP_060853 Q9C0J8 WDR33_HUMAN Homo sapiens WD repeat domain 33 (WDR33), transcript variant 1, mRNA. 849 postreplication repair|spermatogenesis collagen|nucleus protein binding NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 39 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0695) AATTCCTGGGGAGGTCCCAGC 0.647000 52 10 0 0 0.008291 0 0 DNM3 26052 broad.mit.edu 37 1 172007500 172007500 + Silent SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr1:172007500G>A uc001gie.3 + 6 1067 c.891G>A c.(889-891)agG>agA p.R297R DNM3_uc001gid.4_Silent_p.R297R|DNM3_uc009wwb.2_Silent_p.R297R|DNM3_uc001gif.3_Silent_p.R297R NM_015569 NP_056384 Q9UQ16 DYN3_HUMAN Homo sapiens dynamin 3 (DNM3), transcript variant 1, mRNA. 297 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 CAAACTTCAGGAACAAACTAC 0.388000 65 10 0 0 0.006214 0 0 OAZ3 51686 broad.mit.edu 37 1 151740538 151740538 + Missense_Mutation SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr1:151740538G>A uc010pdm.2 + 3 375 c.305G>A c.(304-306)gGg>gAg p.G102E OAZ3_uc010pdl.2_Missense_Mutation_p.G58E NM_016178 NP_057262 Q9UMX2 OAZ3_HUMAN Homo sapiens ornithine decarboxylase antizyme 3 (OAZ3), transcript variant 1, mRNA. 55 cellular nitrogen compound metabolic process|regulation of cellular amino acid metabolic process|spermatogenesis cytosol|nucleus ornithine decarboxylase inhibitor activity endometrium(2)|kidney(2)|large_intestine(1)|lung(4) 9 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14) LUSC - Lung squamous cell carcinoma(543;0.181) L-Ornithine(DB00129) TTCCAGGCTGGGAACTTGACG 0.547000 57 10 0 0 0.006214 0 0 PRKAR2B 5577 broad.mit.edu 37 7 106797452 106797452 + Silent SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr7:106797452C>T uc003vdx.3 + 8 1117 c.942C>T c.(940-942)ttC>ttT p.F314F NM_002736 NP_002727 P31323 KAP3_HUMAN Homo sapiens protein kinase, cAMP-dependent, regulatory, type II, beta (PRKAR2B), mRNA. 314 G2/M transition of mitotic cell cycle|activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|intracellular signal transduction|nerve growth factor receptor signaling pathway|regulation of insulin secretion|transmembrane transport|water transport centrosome|cytosol|plasma membrane cAMP binding|cAMP-dependent protein kinase regulator activity breast(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1) 14 ATTCTTTTTTCATTGTAGAAT 0.348000 82 21 0 0 0.010504 0 0 ZNF445 353274 broad.mit.edu 37 3 44491977 44491978 + Missense_Mutation DNP TC CA CA TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr3:44491977_44491978TC>CA uc003cnf.2 - 5 1129_1130 c.781_782GA>TG c.(781-783)gat>TGt p.D261C ZNF445_uc011azv.1_Missense_Mutation_p.D249C|ZNF445_uc011azw.1_Missense_Mutation_p.D261C NM_181489 NP_852466 P59923 ZN445_HUMAN Homo sapiens zinc finger protein 445 (ZNF445), mRNA. 261 KRAB. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|skin(3) 31 KIRC - Kidney renal clear cell carcinoma(197;0.0514)|Kidney(197;0.0646) CAGCATCACATCCCTGTACAGG 0.480000 45 17 0 0 0.004672 0 0 LCTL 197021 broad.mit.edu 37 15 66855937 66855937 + Missense_Mutation SNP C T T rs113055189 TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr15:66855937C>T uc002aqc.3 - 3 529 c.397G>A c.(397-399)Gaa>Aaa p.E133K LCTL_uc002aqd.4_5'UTR|LCTL_uc010bhw.3_5'UTR NM_207338 NP_997221 Q6UWM7 LCTL_HUMAN Homo sapiens lactase-like (LCTL), mRNA. 133 carbohydrate metabolic process endoplasmic reticulum membrane|integral to membrane cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds p.E133K(2) NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 CTGTAGAATTCGATTCCCTTC 0.527000 38 8 0 0 0.003080 0 0 MYO5B 4645 broad.mit.edu 37 18 47563340 47563340 + Missense_Mutation SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr18:47563340G>A uc002leb.2 - 3 623 c.335C>T c.(334-336)cCt>cTt p.P112L MYO5B_uc021ukb.1_Missense_Mutation_p.P111L NM_001080467 NP_001073936 Q9ULV0 MYO5B_HUMAN Homo sapiens myosin VB (MYO5B), mRNA. 112 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) CTGTTCATAAGGATTAATGGC 0.463000 21 9 0 0 0.006214 0 0 HDAC9 9734 broad.mit.edu 37 7 18688140 18688140 + Missense_Mutation SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr7:18688140C>T uc003sui.3 + 9 1342 c.1301C>T c.(1300-1302)tCa>tTa p.S434L HDAC9_uc003sue.3_Missense_Mutation_p.S431L|HDAC9_uc011jyd.2_Missense_Mutation_p.S431L|HDAC9_uc003suh.3_Missense_Mutation_p.S431L|HDAC9_uc003suj.3_Missense_Mutation_p.S390L|HDAC9_uc011jya.2_Missense_Mutation_p.S429L|HDAC9_uc003sua.1_Missense_Mutation_p.S409L|HDAC9_uc003sud.2_Missense_Mutation_p.S431L|HDAC9_uc011jyc.2_Missense_Mutation_p.S390L|HDAC9_uc011jyb.2_Missense_Mutation_p.S387L|HDAC9_uc003suf.2_Missense_Mutation_p.S462L|HDAC9_uc010kud.2_Missense_Mutation_p.S434L|HDAC9_uc011jye.2_Missense_Mutation_p.S403L|HDAC9_uc011jyf.2_Missense_Mutation_p.S354L|HDAC9_uc010kue.1_Missense_Mutation_p.S174L NM_178425 NP_848512 Q9UKV0 HDAC9_HUMAN Homo sapiens histone deacetylase 9 (HDAC9), transcript variant 5, mRNA. 431 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) GAGAGAATTTCACCTGGCATT 0.473000 54 14 0 0 0.003163 0 0 MYL1 4632 broad.mit.edu 37 2 211179661 211179661 + Missense_Mutation SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr2:211179661C>T uc002vec.3 - 0 235 c.106G>A c.(106-108)Gaa>Aaa p.E36K NM_079420 NP_524144 P05976 MYL1_HUMAN Homo sapiens myosin, light chain 1, alkali; skeletal, fast (MYL1), transcript variant 1f, mRNA. 36 muscle filament sliding|muscle organ development cytosol|muscle myosin complex|sarcomere calcium ion binding|structural constituent of muscle breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1) 16 Epithelial(149;0.00573)|Lung(261;0.0422)|LUSC - Lung squamous cell carcinoma(261;0.0444)|all cancers(144;0.057) TCAATTTTTTCTTCTTTGGGT 0.512000 164 96 0 0 0.014410 0 0 C3orf71 646450 broad.mit.edu 37 3 48956243 48956243 + Missense_Mutation SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr3:48956243C>T uc010hkk.1 - 0 576 c.340G>A c.(340-342)Gat>Aat p.D114N ARIH2_uc003cvb.3_5'Flank|ARIH2_uc003cvc.3_5'Flank NM_001123040 NP_001116512 Q8N7S6 CC071_HUMAN Homo sapiens chromosome 3 open reading frame 71 (C3orf71), mRNA. 114 integral to membrane breast(1)|endometrium(2)|lung(1)|urinary_tract(1) 5 CGACCCCGATCCGGAAGTGAC 0.682000 30 6 0 0 0.001984 0 0 ADORA2A 135 broad.mit.edu 37 22 24837103 24837103 + Silent SNP C T T rs17650937 byFrequency TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr22:24837103C>T uc002zzx.3 + 4 1648 c.885C>T c.(883-885)ttC>ttT p.F295F SPECC1L_uc021wne.1_Non-coding_Transcript|ADORA2A_uc002zzy.4_Silent_p.F295F|ADORA2A_uc011ajs.2_Silent_p.F156F|C22orf45_uc002zzz.2_Intron|ADORA2A_uc010guq.3_Silent_p.F295F|ADORA2A_uc010gup.3_Silent_p.F295F|ADORA2A_uc003aab.3_Silent_p.F295F|C22orf45_uc003aad.1_Intron NM_000675 NP_000666 P29274 AA2AR_HUMAN Homo sapiens adenosine A2a receptor (ADORA2A), mRNA. 295 apoptosis|blood coagulation|cAMP biosynthetic process|cellular defense response|inflammatory response|nerve growth factor receptor signaling pathway|phagocytosis|sensory perception integral to plasma membrane|membrane fraction enzyme binding breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(7)|skin(1) 21 Colorectal(2;0.196) Caffeine(DB00201)|Defibrotide(DB04932)|Pegademase bovine(DB00061)|Theophylline(DB00277) TCCGCGAGTTCCGCCAGACCT 0.597000 46 9 0 0 0.006214 0 0 EPO 2056 broad.mit.edu 37 7 100320727 100320727 + Missense_Mutation SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr7:100320727G>A uc003uwi.3 + 4 734 c.553G>A c.(553-555)Ggg>Agg p.G185R EPO_uc011kkc.1_Missense_Mutation_p.G184R NM_000799 NP_000790 P01588 EPO_HUMAN Homo sapiens erythropoietin (EPO), mRNA. 185 blood circulation|cellular hyperosmotic response|erythrocyte maturation|negative regulation of apoptosis|negative regulation of ion transmembrane transporter activity|negative regulation of sodium ion transport|positive regulation of DNA replication|positive regulation of Ras protein signal transduction|positive regulation of cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat5 protein|signal transduction extracellular space erythropoietin receptor binding|eukaryotic cell surface binding|hormone activity central_nervous_system(2)|endometrium(2)|lung(7)|prostate(1) 12 Lung NSC(181;0.041)|all_lung(186;0.0581) Darbepoetin alfa(DB00012)|Epoetin alfa(DB00016) GCTGTACACAGGGGAGGCCTG 0.587000 94 13 0 0 0.013537 0 0 TNN 63923 broad.mit.edu 37 1 175116171 175116171 + Silent SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr1:175116171G>A uc001gkl.1 + 18 3977 c.3864G>A c.(3862-3864)aaG>aaA p.K1288K NM_022093 NP_071376 Q9UQP3 TENN_HUMAN Homo sapiens tenascin N (TNN), mRNA. 1288 cell growth|cell migration|signal transduction extracellular space|proteinaceous extracellular matrix NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 156 Breast(1374;0.000962) KIRC - Kidney renal clear cell carcinoma(1967;0.00198) TGGGCAGAAAGAAGCGGACGC 0.587000 OREG0013992 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 29 4 0 0 0.009096 0 0 ZNF786 136051 broad.mit.edu 37 7 148767963 148767963 + Missense_Mutation SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr7:148767963G>A uc003wfh.2 - 3 2038 c.1901C>T c.(1900-1902)gCc>gTc p.A634V ZNF786_uc011kuk.1_Missense_Mutation_p.A597V|ZNF786_uc003wfi.2_Missense_Mutation_p.A548V NM_152411 NP_689624 Q8N393 ZN786_HUMAN Homo sapiens zinc finger protein 786 (ZNF786), mRNA. 634 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(4)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(2) 26 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00463) CTTCATGTCGGCCTTCACGCG 0.612000 52 13 0 0 0.013537 0 0 CDH18 1016 broad.mit.edu 37 5 19473723 19473723 + Missense_Mutation SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr5:19473723C>T uc003jgd.3 - 12 2519 c.1985G>A c.(1984-1986)gGa>gAa p.G662E CDH18_uc011cnm.2_3'UTR|CDH18_uc003jgc.3_Missense_Mutation_p.G662E|CDH18_uc021xwu.1_3'UTR NM_004934 NP_004925 Q13634 CAD18_HUMAN Homo sapiens cadherin 18, type 2 (CDH18), transcript variant 1, mRNA. 662 adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.E661D(1) 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) CTCTCCGCCTCCTTCATCATC 0.498000 143 36 0 0 0.003755 0 0 AKNA 80709 broad.mit.edu 37 9 117106021 117106021 + Missense_Mutation SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr9:117106021G>A uc004biq.3 - 17 3859 c.3724C>T c.(3724-3726)Ccc>Tcc p.P1242S AKNA_uc004bin.3_Missense_Mutation_p.P489S|AKNA_uc004bio.3_Missense_Mutation_p.P702S|AKNA_uc004bip.3_Missense_Mutation_p.P1161S|AKNA_uc004bir.3_Missense_Mutation_p.P1242S|AKNA_uc004bis.3_Missense_Mutation_p.P1242S|AKNA_uc010mve.2_Missense_Mutation_p.P1123S NM_030767 NP_110394 Q7Z591 AKNA_HUMAN Homo sapiens AT-hook transcription factor (AKNA), mRNA. 1242 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2) 51 CGGCAGTGGGGACAGGAGACT 0.582000 48 15 0 0 0.004990 0 0 MMP13 4322 broad.mit.edu 37 11 102825186 102825186 + Splice_Site SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr11:102825186C>T uc001phl.3 - 3 540 c.511_splice c.e3+1 p.E171_splice NM_002427 NP_002418 P45452 MMP13_HUMAN Homo sapiens matrix metallopeptidase 13 (collagenase 3) (MMP13), mRNA. 171 collagen catabolic process|proteolysis extracellular space metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|skin(1)|stomach(1) 27 all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) BRCA - Breast invasive adenocarcinoma(274;0.0144) TGCATCATTACCCTTAATTCC 0.294000 10 5 0 0 0.000602 0 0 SHROOM3 57619 broad.mit.edu 37 4 77631427 77631427 + Missense_Mutation SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr4:77631427C>T uc011cbx.2 + 2 1395 c.442C>T c.(442-444)Cgg>Tgg p.R148W SHROOM3_uc011cbz.1_5'UTR NM_020859 NP_065910 Q8TF72 SHRM3_HUMAN Homo sapiens shroom family member 3 (SHROOM3), mRNA. 148 apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule actin binding NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1) 60 Lung(101;0.0903) GGTTAAACTTCGGCTGAAGCA 0.577000 30 9 0 0 0.006214 0 0 TCHHL1 126637 broad.mit.edu 37 1 152059449 152059449 + Missense_Mutation SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr1:152059449C>T uc001ezo.1 - 2 774 c.709G>A c.(709-711)Gaa>Aaa p.E237K NM_001008536 NP_001008536 Q5QJ38 TCHL1_HUMAN Homo sapiens trichohyalin-like 1 (TCHHL1), mRNA. 237 calcium ion binding p.D236A(1) breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1) 60 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.246) CTGGCTGGTTCATCTCCTTCC 0.463000 84 16 0 0 0.004007 0 0 GART 2618 broad.mit.edu 37 21 34903147 34903147 + Missense_Mutation SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr21:34903147G>A uc002yrz.3 - 6 952 c.641C>T c.(640-642)cCa>cTa p.P214L GART_uc002yrx.3_Missense_Mutation_p.P214L|GART_uc010gmd.3_5'UTR|GART_uc002yry.3_Missense_Mutation_p.P214L|GART_uc002ysa.2_Missense_Mutation_p.P214L NM_001136005 NP_001129478 P22102 PUR2_HUMAN Homo sapiens phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase (GART), transcript variant 3, mRNA. 214 ATP-grasp. '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) GTCCTGTGCTGGGGGCATGGG 0.463000 36 6 0 0 0.003080 0 0 ATP13A1 57130 broad.mit.edu 37 19 19766131 19766131 + Nonsense_Mutation SNP T A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr19:19766131T>A uc002nnh.4 - 10 1556 c.1528A>T c.(1528-1530)Aag>Tag p.K510* ATP13A1_uc002nnf.4_5'UTR|ATP13A1_uc002nng.3_Nonsense_Mutation_p.K392* NM_020410 NP_065143 Q9HD20 AT131_HUMAN Homo sapiens ATPase type 13A1 (ATP13A1), mRNA. 510 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 29 TCACAGAGCTTGGCCAGGGCG 0.632000 36 7 0 0 0.003080 0 0 CDH23 64072 broad.mit.edu 37 10 73461880 73461880 + Silent SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr10:73461880C>T uc001jrx.4 + 21 2883 c.2493C>T c.(2491-2493)atC>atT p.I831I CDH23_uc001jry.3_Silent_p.I831I|CDH23_uc001jrz.3_Silent_p.I831I NM_022124 NP_071407 Q9H251 CAD23_HUMAN Homo sapiens cadherin-related 23 (CDH23), transcript variant 1, mRNA. 833 Cadherin 8. calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound cytosol|integral to membrane|plasma membrane|stereocilium calcium ion binding|protein binding p.L831P(1) NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3) 133 CGGGCAAGATCCGCACCACCC 0.602000 102 22 0 0 0.002780 0 0 HIST4H4 121504 broad.mit.edu 37 12 14923804 14923804 + Missense_Mutation SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr12:14923804G>A uc001rcf.4 - 0 262 c.215C>T c.(214-216)aCt>aTt p.T72I HIST4H4_uc001rce.3_Non-coding_Transcript NM_175054 NP_778224 P62805 H4_HUMAN Homo sapiens histone cluster 4, H4 (HIST4H4), mRNA. 72 CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance nucleoplasm|nucleosome DNA binding|protein binding haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(2) 6 CTCCGTGTAAGTCACCGCGTC 0.607000 OREG0021698 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 60 13 0 0 0.013537 0 0 SOAT2 8435 broad.mit.edu 37 12 53517624 53517624 + Silent SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr12:53517624G>A uc001sbv.3 + 13 1573 c.1485G>A c.(1483-1485)gaG>gaA p.E495E SOAT2_uc009zms.3_Non-coding_Transcript NM_003578 NP_003569 O75908 SOAT2_HUMAN Homo sapiens sterol O-acyltransferase 2 (SOAT2), mRNA. 495 cholesterol efflux|cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|macrophage derived foam cell differentiation|very-low-density lipoprotein particle assembly brush border|endoplasmic reticulum membrane|integral to membrane|microsome cholesterol O-acyltransferase activity|cholesterol binding|fatty-acyl-CoA binding endometrium(5)|kidney(3)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|skin(1) 18 ACTGCCAGGAGTGGTACGCAC 0.602000 41 11 0 0 0.008291 0 0 CACNG4 27092 broad.mit.edu 37 17 65027082 65027082 + Missense_Mutation SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr17:65027082C>T uc002jft.2 + 3 994 c.946C>T c.(946-948)Cac>Tac p.H316Y NM_014405 NP_055220 Q9UBN1 CCG4_HUMAN Homo sapiens calcium channel, voltage-dependent, gamma subunit 4 (CACNG4), mRNA. 316 membrane depolarization|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 activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(3) 19 all_cancers(12;9.86e-11) BRCA - Breast invasive adenocarcinoma(6;1.35e-07) GGAAGGTTTCCACGTCAGCAT 0.612000 46 16 0 0 0.004990 0 0 MYH2 4620 broad.mit.edu 37 17 10451105 10451105 + Missense_Mutation SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr17:10451105C>T uc010coi.3 - 2 261 c.133G>A c.(133-135)Gaa>Aaa p.E45K AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Missense_Mutation_p.E45K|MYH2_uc010coj.3_Missense_Mutation_p.E45K NM_001100112 NP_060004 Q9UKX2 MYH2_HUMAN Homo sapiens myosin, heavy chain 2, skeletal muscle, adult (MYH2), transcript variant 2, mRNA. 45 Myosin head-like. muscle filament sliding muscle myosin complex|myosin filament|sarcomere ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle p.E45K(2) NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4) 176 ACAAAGGATTCTTTGGGCTCC 0.532000 84 19 0 0 0.012319 0 0 C12orf56 115749 broad.mit.edu 37 12 64746779 64746779 + Missense_Mutation SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr12:64746779G>A uc021qzu.1 - 1 310 c.310C>T c.(310-312)Cgt>Tgt p.R104C BC042855_uc001srx.3_Intron|C12orf56_uc001ssa.4_Missense_Mutation_p.R104C NM_001170633 NP_001164104 Q8IXR9 CL056_HUMAN Homo sapiens chromosome 12 open reading frame 56 (C12orf56), transcript variant 1, mRNA. 104 NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|ovary(1) 15 GBM - Glioblastoma multiforme(3;0.000582) GBM - Glioblastoma multiforme(28;0.0259) TAGATGATACGAATGTGTTGG 0.328000 76 27 0 0 0.007291 0 0 CRMP1 1400 broad.mit.edu 37 4 5868434 5868434 + Missense_Mutation SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr4:5868434G>A uc003gis.3 - 1 520 c.431C>T c.(430-432)tCc>tTc p.S144F CRMP1_uc003giq.3_Missense_Mutation_p.S30F|CRMP1_uc003gir.3_Missense_Mutation_p.S25F NM_001014809 NP_001014809 Q14194 DPYL1_HUMAN Homo sapiens collapsin response mediator protein 1 (CRMP1), transcript variant 1, mRNA. 30 axon guidance|pyrimidine base catabolic process cytosol|microtubule organizing center|spindle dihydropyrimidinase activity|protein binding NS(1)|cervix(2)|endometrium(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 36 Colorectal(103;0.0721) AGCATAAAGGGATTGGTCATC 0.473000 63 23 0 0 0.005443 0 0 MGAT5 4249 broad.mit.edu 37 2 135206361 135206361 + Silent SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr2:135206361C>T uc002ttw.4 + 15 2314 c.2169C>T c.(2167-2169)gtC>gtT p.V723V NM_002410 NP_002401 Q09328 MGT5A_HUMAN Homo sapiens mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase (MGAT5), mRNA. 723 post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|pancreas(1)|skin(3) 36 BRCA - Breast invasive adenocarcinoma(221;0.0964) ACCAGAGGGTCTGCCCCTGCC 0.597000 57 5 0 0 0.000602 0 0 DMRT3 58524 broad.mit.edu 37 9 990637 990637 + Missense_Mutation SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr9:990637C>T uc003zgw.1 + 1 1089 c.1051C>T c.(1051-1053)Ccc>Tcc p.P351S NM_021240 NP_067063 Q9NQL9 DMRT3_HUMAN Homo sapiens doublesex and mab-3 related transcription factor 3 (DMRT3), mRNA. 351 cell differentiation|multicellular organismal development|sex differentiation nucleus DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 26 all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08) Lung(218;0.0196) CAACGTTGTCCCCAGTCCCTT 0.592000 45 9 0 0 0.008291 0 0 CDH23 64072 broad.mit.edu 37 10 73468967 73468967 + Splice_Site SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr10:73468967C>T uc001jrx.4 + 26 3604 c.3214_splice c.e26+1 p.D1072_splice CDH23_uc001jrz.3_Splice_Site_p.D1072_splice NM_022124 NP_071407 Q9H251 CAD23_HUMAN Homo sapiens cadherin-related 23 (CDH23), transcript variant 1, mRNA. 1074 Cadherin 10. calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound cytosol|integral to membrane|plasma membrane|stereocilium calcium ion binding|protein binding NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3) 133 TGGAGGCCATCGGTATGCACC 0.607000 40 10 0 0 0.013537 0 0 RYR2 6262 broad.mit.edu 37 1 237947118 237947118 + Missense_Mutation SNP G T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr1:237947118G>T uc001hyl.1 + 89 12226 c.12106G>T c.(12106-12108)Gac>Tac p.D4036Y RYR2_uc010pya.2_Missense_Mutation_p.D451Y NM_001035 NP_001026 Q92736 RYR2_HUMAN Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA. 4036 EF-hand. 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.P4035P(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) TAAAGAATATGACCCCGATGG 0.413000 22 4 0.00909568 0.00981511 0.009096 1 0 MUC16 94025 broad.mit.edu 37 19 9065879 9065879 + Silent SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr19:9065879G>A uc002mkp.3 - 2 21771 c.21567C>T c.(21565-21567)ccC>ccT p.P7189P NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 7191 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 GTCCAGAGCTGGGAATCTCCA 0.502000 113 30 0 0 0.007291 0 0 RGPD4 285190 broad.mit.edu 37 2 108487685 108487685 + Silent SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr2:108487685G>A uc010ywk.2 + 19 3307 c.3225G>A c.(3223-3225)agG>agA p.R1075R RGPD4_uc002tdu.3_Silent_p.R262R|RGPD4_uc010ywl.2_Non-coding_Transcript NM_182588 NP_872394 Q7Z3J3 RGPD4_HUMAN Homo sapiens RANBP2-like and GRIP domain containing 4 (RGPD4), mRNA. 1075 RanBD1 1. intracellular transport binding breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3) 43 CTGAGGTAAGGCAGTGGAAAG 0.383000 369 66 0 0 0.014410 0 0 PAMR1 25891 broad.mit.edu 37 11 35461194 35461194 + Missense_Mutation SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr11:35461194G>A uc001mwf.3 - 8 1175 c.1132C>T c.(1132-1134)Ccg>Tcg p.P378S PAMR1_uc001mwg.3_Missense_Mutation_p.P361S|PAMR1_uc010rew.2_Missense_Mutation_p.P250S|PAMR1_uc010rex.2_Missense_Mutation_p.P321S NM_015430 NP_056245 Q6UXH9 PAMR1_HUMAN Homo sapiens peptidase domain containing associated with muscle regeneration 1 (PAMR1), transcript variant 1, mRNA. 361 proteolysis extracellular region serine-type endopeptidase activity breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1) 26 ACCTGCATCGGAAGAACTCTC 0.463000 113 22 0 0 0.008361 0 0 MICAL2 9645 broad.mit.edu 37 11 12270761 12270761 + Missense_Mutation SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr11:12270761C>T uc001mjz.3 + 21 3103 c.2815C>T c.(2815-2817)Cat>Tat p.H939Y MICAL2_uc010rch.1_Missense_Mutation_p.H749Y|MICAL2_uc001mka.3_Missense_Mutation_p.H939Y|MICAL2_uc010rci.2_Intron|MICAL2_uc001mkb.3_Missense_Mutation_p.H749Y|MICAL2_uc001mkc.3_Intron|MICAL2_uc001mkd.3_Intron|MICAL2_uc010rcj.2_Missense_Mutation_p.H151Y|MICAL2_uc001mkf.3_Intron NM_014632 NP_055447 O94851 MICA2_HUMAN Homo sapiens microtubule associated monoxygenase, calponin and LIM domain containing 2 (MICAL2), mRNA. 939 cytoplasm|cytoskeleton monooxygenase activity|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 47 Epithelial(150;0.00552) gttccattttcatcccagcca 0.468000 39 9 0 0 0.004482 0 0 NPHP4 261734 broad.mit.edu 37 1 5927849 5927849 + Silent SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr1:5927849G>A uc001alq.2 - 23 3691 c.3423C>T c.(3421-3423)ctC>ctT p.L1141L NPHP4_uc001alr.1_Silent_p.L83L NM_015102 NP_055917 O75161 NPHP4_HUMAN Homo sapiens nephronophthisis 4 (NPHP4), mRNA. 1141 actin cytoskeleton organization|cell-cell adhesion|signal transduction|visual behavior cell-cell junction|centrosome|cilium|microtubule basal body protein binding|structural molecule activity p.E1140E(1) NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4) 47 Ovarian(185;0.0634) all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213) Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649) TCAGGAAGGAGAGCTCCGGGT 0.637000 59 14 0 0 0.002450 0 0 TLR7 51284 broad.mit.edu 37 X 12904184 12904184 + Missense_Mutation SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chrX:12904184G>A uc004cvc.3 + 2 696 c.557G>A c.(556-558)cGa>cAa p.R186Q NM_016562 NP_057646 Q9NYK1 TLR7_HUMAN Homo sapiens toll-like receptor 7 (TLR7), mRNA. 186 I-kappaB phosphorylation|cellular response to mechanical stimulus|defense response to virus|inflammatory response|innate immune response|positive regulation of NF-kappaB import into nucleus|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane double-stranded RNA binding|siRNA binding|single-stranded RNA binding|transmembrane receptor activity NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 44 Imiquimod(DB00724) TGTTATTATCGAAATCCTTGT 0.388000 15 9 0 0 0.004482 0 0 CREG2 200407 broad.mit.edu 37 2 102000038 102000038 + Missense_Mutation SNP T C C TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr2:102000038T>C uc002tba.2 - 1 614 c.568A>G c.(568-570)Atg>Gtg p.M190V NM_153836 NP_722578 Q8IUH2 CREG2_HUMAN Homo sapiens cellular repressor of E1A-stimulated genes 2 (CREG2), mRNA. 190 extracellular region FMN binding endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1) 10 AGCGAGGCCATGGGGTTCTTC 0.547000 41 10 0 0 0.010729 0 0 A2ML1 144568 broad.mit.edu 37 12 9004870 9004870 + Missense_Mutation SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr12:9004870C>T uc001quz.4 + 19 2626 c.2528C>T c.(2527-2529)tCc>tTc p.S843F A2ML1_uc001qva.1_Missense_Mutation_p.S423F|A2ML1_uc010sgm.2_Missense_Mutation_p.S343F NM_144670 NP_653271 B3KVV6 B3KVV6_HUMAN Homo sapiens alpha-2-macroglobulin-like 1 (A2ML1), mRNA. 687 extracellular space endopeptidase inhibitor activity p.T842T(1) NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1) 80 TCTCAGACCTCCAGTTGTCTC 0.493000 154 39 0 0 0.006230 0 0 AKAP9 10142 broad.mit.edu 37 7 91691662 91691662 + Missense_Mutation SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr7:91691662C>T uc003ulg.3 + 23 6064 c.5839C>T c.(5839-5841)Cgt>Tgt p.R1947C AKAP9_uc003ulf.3_Missense_Mutation_p.R1947C|AKAP9_uc003uli.3_Missense_Mutation_p.R1570C NM_005751 NP_005742 Q99996 AKAP9_HUMAN Homo sapiens A kinase (PRKA) anchor protein (yotiao) 9 (AKAP9), transcript variant 2, mRNA. 1959 Glu-rich. 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) TATAATAGATCGTCTTGAGCA 0.358000 T BRAF papillary thyroid 116 26 0 0 0.006320 0 0 HOXC5 3222 broad.mit.edu 37 12 54427123 54427123 + Missense_Mutation SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr12:54427123C>T uc001sew.3 + 0 292 c.217C>T c.(217-219)Cgc>Tgc p.R73C HOXC5_uc001set.3_Intron|HOXC4_uc001seu.3_Intron|MIR615_uc021qyl.1_5'Flank NM_018953 NP_061826 Q00444 HXC5_HUMAN Homo sapiens homeobox C5 (HOXC5), transcript variant 1, mRNA. 73 regulation of transcription from RNA polymerase II promoter cell junction|nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity cervix(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(2)|urinary_tract(1) 12 TCACCCCGACCGCCCCGCCTG 0.687000 24 7 0 0 0.003080 0 0 ZG16B 124220 broad.mit.edu 37 16 2881912 2881912 + Nonsense_Mutation SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr16:2881912C>T uc002cru.3 + 3 455 c.379C>T c.(379-381)Caa>Taa p.Q127* NM_145252 NP_660295 Q96DA0 ZG16B_HUMAN Homo sapiens zymogen granule protein 16 homolog B (rat) (ZG16B), mRNA. 127 extracellular region sugar binding central_nervous_system(1)|lung(2)|ovary(1)|prostate(1) 5 TGTCGCCTTCCAAGCTTTCCT 0.532000 50 12 0 0 0.001855 0 0 SATB2 23314 broad.mit.edu 37 2 200188671 200188671 + Missense_Mutation SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr2:200188671G>A uc002uuy.2 - 8 2214 c.1397C>T c.(1396-1398)tCg>tTg p.S466L SATB2_uc010fsq.2_Missense_Mutation_p.S348L|SATB2_uc002uva.2_Missense_Mutation_p.S466L|SATB2_uc002uuz.2_Missense_Mutation_p.S466L NM_001172509 NP_056080 Q9UPW6 SATB2_HUMAN Homo sapiens SATB homeobox 2 (SATB2), transcript variant 1, mRNA. 466 cytoplasm|nuclear matrix sequence-specific DNA binding transcription factor activity breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 62 TGTCGGTGTCGAGGTTTTGGC 0.453000 85 18 0 0 0.008871 0 0 CRELD2 79174 broad.mit.edu 37 22 50320941 50320941 + Missense_Mutation SNP C A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr22:50320941C>A uc010hal.2 + 10 1330 c.1195C>A c.(1195-1197)Cgc>Agc p.R399S CRELD2_uc003bja.2_Missense_Mutation_p.R350S|CRELD2_uc010hak.2_Missense_Mutation_p.R322S|CRELD2_uc010ham.2_Missense_Mutation_p.R318S NM_001135101 NP_001128573 Q6UXH1 CREL2_HUMAN Homo sapiens cysteine-rich with EGF-like domains 2 (CRELD2), transcript variant 1, mRNA. 350 endoplasmic reticulum|extracellular region calcium ion binding endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|stomach(3) 9 all_cancers(38;5.53e-07)|all_epithelial(38;3.84e-06)|all_lung(38;0.00208)|Breast(42;0.0104)|Lung NSC(38;0.0199)|Ovarian(80;0.0907)|Lung SC(80;0.236) BRCA - Breast invasive adenocarcinoma(115;0.198)|LUAD - Lung adenocarcinoma(64;0.247) GCTGCCCTCCCGCGAAGACCT 0.547000 130 5 0.00198382 0.00214679 0.001984 1 0 C19orf29-AS1 404665 broad.mit.edu 37 19 3612182 3612182 + Missense_Mutation SNP G T T rs147636108 by1000genomes TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr19:3612182G>T uc021umw.1 + 2 648 c.391G>T c.(391-393)Gat>Tat p.D131Y C19orf29_uc010xho.2_Silent_p.I131I|C19orf29_uc010dtn.3_Silent_p.I520I|C19orf29_uc002lyh.3_Silent_p.I672I|C19orf29_uc002lyi.4_Silent_p.I672I|C19orf29_uc010dto.3_Non-coding_Transcript Homo sapiens C19orf29 antisense RNA 1 (non-protein coding) (C19orf29-AS1), non-coding RNA. ATCCCTGCACGATCTTGGGCG 0.582000 165 51 1.27862e-28 1.40086e-28 0.014410 1 0 SV2A 9900 broad.mit.edu 37 1 149880812 149880812 + Silent SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr1:149880812G>A uc001etg.3 - 7 1802 c.1311C>T c.(1309-1311)tcC>tcT p.S437S SV2A_uc009wlk.3_5'Flank|SV2A_uc001eth.2_Silent_p.S437S NM_014849 NP_055664 Q7L0J3 SV2A_HUMAN Homo sapiens synaptic vesicle glycoprotein 2A (SV2A), mRNA. 437 neurotransmitter transport cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane transmembrane transporter activity breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2) 55 Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247) Levetiracetam(DB01202) GACCAAAACAGGAGAGAAAAT 0.512000 69 12 0 0 0.013537 0 0 OR5M10 390167 broad.mit.edu 37 11 56345152 56345152 + Missense_Mutation SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr11:56345152C>T uc001niz.1 - 0 46 c.46G>A c.(46-48)Gga>Aga p.G16R OR8U8_uc001nit.2_Intron NM_001004741 NP_001004741 Q6IEU7 OR5MA_HUMAN Homo sapiens olfactory receptor, family 5, subfamily M, member 10 (OR5M10), mRNA. 16 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(2) 25 TCTGTCAGTCCTAAGAGAATG 0.453000 89 36 0 0 0.004289 0 0 ZNF638 27332 broad.mit.edu 37 2 71591308 71591308 + Missense_Mutation SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr2:71591308C>T uc002shx.3 + 4 1966 c.1643C>T c.(1642-1644)cCa>cTa p.P548L ZNF638_uc010fec.2_Missense_Mutation_p.P654L|ZNF638_uc010yqw.1_Missense_Mutation_p.P127L|ZNF638_uc002shw.3_Missense_Mutation_p.P548L|ZNF638_uc002shz.3_Missense_Mutation_p.P548L|ZNF638_uc002shy.3_Missense_Mutation_p.P548L|ZNF638_uc002sia.3_Missense_Mutation_p.P548L|ZNF638_uc002sib.1_Missense_Mutation_p.P548L NM_014497 NP_055312 Q14966 ZN638_HUMAN Homo sapiens zinc finger protein 638 (ZNF638), transcript variant 1, mRNA. 548 Arg-rich. RNA splicing cytoplasm|nuclear speck RNA binding|double-stranded DNA binding|nucleotide binding|zinc ion binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1) 63 ATTAGAAATCCATTTAGAGGT 0.423000 32 9 0 0 0.004482 0 0 FSTL5 56884 broad.mit.edu 37 4 162459348 162459348 + Missense_Mutation SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr4:162459348G>A uc003iqh.3 - 9 1718 c.1282C>T c.(1282-1284)Ctt>Ttt p.L428F FSTL5_uc003iqi.3_Missense_Mutation_p.L427F|FSTL5_uc010iqv.3_Missense_Mutation_p.L427F NM_020116 NP_064501 Q8N475 FSTL5_HUMAN Homo sapiens follistatin-like 5 (FSTL5), transcript variant 1, mRNA. 428 extracellular region calcium ion binding central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 91 all_hematologic(180;0.24) COAD - Colon adenocarcinoma(41;0.179) TCCACAAAAAGAGAAGAGATG 0.408000 113 28 0 0 0.010818 0 0 SERPINB7 8710 broad.mit.edu 37 18 61449734 61449734 + Missense_Mutation SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr18:61449734G>A uc002ljl.3 + 1 224 c.128G>A c.(127-129)cGc>cAc p.R43H SERPINB7_uc002ljm.3_Missense_Mutation_p.R43H|SERPINB7_uc010xet.2_Missense_Mutation_p.R43H|SERPINB7_uc010dqg.3_Missense_Mutation_p.R43H NM_001040147 NP_003775 O75635 SPB7_HUMAN Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 7 (SERPINB7), transcript variant 2, mRNA. 43 regulation of proteolysis cytoplasm serine-type endopeptidase inhibitor activity central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(3) 27 Esophageal squamous(42;0.129) GCCCTGGTCCGCTTGGGCGCT 0.468000 65 15 0 0 0.008871 0 0 ITGA7 3679 broad.mit.edu 37 12 56090778 56090778 + Missense_Mutation SNP G A A rs146411608 by1000genomes TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr12:56090778G>A uc001shh.3 - 11 1874 c.1654C>T c.(1654-1656)Cgt>Tgt p.R552C ITGA7_uc001shg.3_Missense_Mutation_p.R548C|ITGA7_uc010sps.2_Missense_Mutation_p.R455C|ITGA7_uc009znw.3_5'Flank|ITGA7_uc009znx.3_Missense_Mutation_p.R429C NM_001144996 NP_001138468 Q13683 ITA7_HUMAN Homo sapiens integrin, alpha 7 (ITGA7), transcript variant 1, mRNA. 592 cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape integrin complex receptor activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 50 TCCAGGTTACGGCTCAGGAAC 0.617000 40 8 0 0 0.003080 0 0 UNC5D 137970 broad.mit.edu 37 8 35624420 35624420 + Splice_Site SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr8:35624420G>A uc003xjr.2 + 15 2642 c.2314_splice c.e15-1 p.E772_splice UNC5D_uc003xjs.2_Splice_Site_p.E767_splice|UNC5D_uc003xju.2_Splice_Site_p.E348_splice NM_080872 NP_543148 Q6UXZ4 UNC5D_HUMAN Homo sapiens unc-5 homolog D (C. elegans) (UNC5D), mRNA. 772 apoptosis|axon guidance integral to membrane receptor activity NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2) 112 READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723) TCCCCTGCAGGAAGTCCCGTT 0.562000 43 4 0 0 0.001168 0 0 DENND3 22898 broad.mit.edu 37 8 142165978 142165978 + Missense_Mutation SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr8:142165978G>A uc003yvy.3 + 7 1143 c.865G>A c.(865-867)Gat>Aat p.D289N DENND3_uc010mep.3_Missense_Mutation_p.D302N|DENND3_uc003yvz.1_5'Flank NM_014957 NP_055772 A2RUS2 DEND3_HUMAN Homo sapiens DENN/MADD domain containing 3 (DENND3), mRNA. 289 DENN. breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1) 55 all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.105) GATAAATATTGATCATGGGAG 0.428000 57 11 0 0 0.010729 0 0 DHCR7 1717 broad.mit.edu 37 11 71146863 71146863 + Missense_Mutation SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr11:71146863G>A uc001oqk.3 - 8 1236 c.986C>T c.(985-987)cCc>cTc p.P329L DHCR7_uc001oql.3_Missense_Mutation_p.P329L NM_001163817 NP_001351 Q9UBM7 DHCR7_HUMAN Homo sapiens 7-dehydrocholesterol reductase (DHCR7), transcript variant 2, mRNA. 329 cholesterol biosynthetic process endoplasmic reticulum membrane|integral to membrane|nuclear outer membrane 7-dehydrocholesterol reductase activity|protein binding endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(1)|skin(1) 19 NADH(DB00157) CAGCTGCACGGGGTGGTACAC 0.687000 Smith-Lemli-Opitz syndrome 27 14 0 0 0.002450 0 0 OR52A1 23538 broad.mit.edu 37 11 5172693 5172693 + Missense_Mutation SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr11:5172693G>A uc010qyy.2 - 0 907 c.907C>T c.(907-909)Cgc>Tgc p.R303C NM_012375 NP_036507 Q9UKL2 O52A1_HUMAN Homo sapiens olfactory receptor, family 52, subfamily A, member 1 (OR52A1), mRNA. 303 sensory perception of smell integral to plasma membrane olfactory receptor activity p.R303C(2) 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) ACATGAATGCGAATCTGTGTG 0.358000 153 20 0 0 0.002780 0 0 BCDIN3D 144233 broad.mit.edu 37 12 50232712 50232712 + Silent SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr12:50232712G>A uc001rvh.3 - 1 363 c.321C>T c.(319-321)ctC>ctT p.L107L LOC100286844_uc010smm.2_Intron|LOC100286844_uc001rvg.3_Non-coding_Transcript|LOC100286844_uc010smn.2_Non-coding_Transcript NM_181708 NP_859059 Q7Z5W3 BN3D2_HUMAN Homo sapiens BCDIN3 domain containing (BCDIN3D), mRNA. 107 Bin3-type SAM. methyltransferase activity endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|skin(1)|stomach(1) 9 TGTCGCAGCAGAGGAGACGGA 0.483000 OREG0021805 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 48 11 0 0 0.013537 0 0 DCDC5 100506627 broad.mit.edu 37 11 30946906 30946906 + Missense_Mutation SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr11:30946906C>T uc009yjk.1 - 10 1360 c.1291G>A c.(1291-1293)Gaa>Aaa p.E431K DCDC5_uc001mss.1_Non-coding_Transcript|DCDC5_uc021qfk.1_Missense_Mutation_p.E90K NM_020869 NP_065920 Q6ZRR9 DCDC5_HUMAN Homo sapiens doublecortin domain containing 5 (DCDC5), mRNA. 62 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 TTCCCCTTTTCATTGTACAAT 0.363000 131 41 0 0 0.013114 0 0 SALL1 6299 broad.mit.edu 37 16 51171346 51171346 + Nonsense_Mutation SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr16:51171346G>A uc021tif.1 - 2 3683 c.3361C>T c.(3361-3363)Cag>Tag p.Q1121* SALL1_uc021tid.1_3'UTR|SALL1_uc021tie.1_3'UTR|SALL1_uc010cbv.3_Nonsense_Mutation_p.Q70* NM_001127892 NP_001121364 Q9NSC2 SALL1_HUMAN Homo sapiens sal-like 1 (Drosophila) (SALL1), transcript variant 2, mRNA. 1218 adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|ureteric bud invasion|ventricular septum development chromocenter|cytoplasm|heterochromatin|nucleus DNA binding|beta-catenin binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3) 126 all_cancers(37;0.0322) COAD - Colon adenocarcinoma(2;0.24) AAATCCTTCTGGAACATTTCT 0.567000 25 11 0 0 0.008291 0 0 TBX22 50945 broad.mit.edu 37 X 79286045 79286045 + Missense_Mutation SNP C G G TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chrX:79286045C>G uc010nmg.1 + 8 1132 c.998C>G c.(997-999)tCt>tGt p.S333C TBX22_uc004edi.1_Missense_Mutation_p.S213C|TBX22_uc004edj.1_Missense_Mutation_p.S333C NM_001109878 NP_001103349 Q9Y458 TBX22_HUMAN Homo sapiens T-box 22 (TBX22), transcript variant 1, mRNA. 333 multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(13)|lung(38)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 65 GGGGCCCCCTCTCCTTTGAAC 0.468000 24 16 0 0 0.003163 0 0 PIGH 5283 broad.mit.edu 37 14 68060610 68060610 + Silent SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr14:68060610G>A uc001xjr.1 - 1 337 c.240C>T c.(238-240)ctC>ctT p.L80L PIGH_uc010tsy.1_Silent_p.L80L NM_004569 NP_004560 Q14442 PIGH_HUMAN Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class H (PIGH), mRNA. 80 C-terminal protein lipidation|preassembly of GPI anchor in ER membrane endoplasmic reticulum membrane|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex|mitochondrion|nucleolus phosphatidylinositol N-acetylglucosaminyltransferase activity endometrium(1)|large_intestine(1)|lung(1)|ovary(1) 4 all cancers(60;0.000592)|OV - Ovarian serous cystadenocarcinoma(108;0.00395)|BRCA - Breast invasive adenocarcinoma(234;0.00933) TCACAAAATGGAGATAACCAA 0.433000 17 5 0 0 0.001168 0 0 PCDHAC2 56134 broad.mit.edu 37 5 140208743 140208743 + Missense_Mutation SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr5:140208743C>T uc003lho.2 + 0 1094 c.1067C>T c.(1066-1068)tCc>tTc p.S356F 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_uc003lhn.2_Missense_Mutation_p.S356F|PCDHAC2_uc011dab.2_Missense_Mutation_p.S356F NM_018909 NP_061732 Q9Y5I4 PCDC2_HUMAN Homo sapiens protocadherin alpha 6 (PCDHA6), transcript variant 1, mRNA. 371 Cadherin 3. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding p.S356F(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) ACTTCCTTATCCTTGCCTGTA 0.498000 93 20 0 0 0.009535 0 0 MUC21 394263 broad.mit.edu 37 6 30955083 30955083 + Silent SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr6:30955083C>T uc003nsh.2 + 1 1382 c.1131C>T c.(1129-1131)aaC>aaT p.N377N MUC21_uc003nsi.1_Non-coding_Transcript|MUC21_uc021yuf.1_Silent_p.N361N NM_001010909 NP_001010909 Q5SSG8 MUC21_HUMAN Homo sapiens mucin 21, cell surface associated (MUC21), mRNA. 377 28 X 15 AA approximate tandem repeats.|Ser-rich. integral to membrane|plasma membrane NS(4)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 42 CAGCCACCAACTCTGAGTCCA 0.632000 119 17 0 0 0.006122 0 0 CCT8L2 150160 broad.mit.edu 37 22 17073081 17073081 + Silent SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr22:17073081C>T uc002zlp.1 - 0 620 c.360G>A c.(358-360)gaG>gaA p.E120E NM_014406 NP_055221 Q96SF2 TCPQM_HUMAN Homo sapiens chaperonin containing TCP1, subunit 8 (theta)-like 2 (CCT8L2), mRNA. 120 cellular protein metabolic process cytoplasm ATP binding|anion channel activity|calcium-activated potassium channel activity p.A119S(1) breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1) 67 all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977) all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175) TCAGCAGCTGCTCTGCCTGTT 0.652000 36 14 0 0 0.001855 0 0 ASH2L 9070 broad.mit.edu 37 8 37968341 37968341 + Missense_Mutation SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr8:37968341C>T uc003xkt.4 + 4 633 c.575C>T c.(574-576)tCc>tTc p.S192F ASH2L_uc011lbk.2_Missense_Mutation_p.S53F|ASH2L_uc003xku.4_Missense_Mutation_p.S98F|ASH2L_uc010lwa.3_Missense_Mutation_p.S98F NM_004674 NP_004665 Q9UBL3 ASH2L_HUMAN Homo sapiens ash2 (absent, small, or homeotic)-like (Drosophila) (ASH2L), transcript variant 1, mRNA. 192 hemopoiesis|histone H3-K4 methylation|positive regulation of cell proliferation|regulation of transcription, DNA-dependent|response to estrogen stimulus|transcription from RNA polymerase II promoter Set1C/COMPASS complex metal ion binding|protein binding|transcription regulatory region DNA binding NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|stomach(1) 19 Colorectal(12;0.000501) Lung NSC(58;0.0295)|all_lung(54;0.0413) ACAATGTTCTCCAAAGATAAG 0.398000 27 7 0 0 0.001984 0 0 CRB1 23418 broad.mit.edu 37 1 197390734 197390734 + Silent SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr1:197390734C>T uc001gtz.3 + 5 1985 c.1776C>T c.(1774-1776)atC>atT p.I592I CRB1_uc010poz.2_Silent_p.I523I|CRB1_uc009wza.3_Silent_p.I480I|CRB1_uc010ppa.2_Intron|CRB1_uc010ppb.2_Silent_p.I592I|CRB1_uc010ppc.1_Intron|CRB1_uc010ppd.2_Silent_p.I73I|CRB1_uc001gub.1_Silent_p.I241I NM_201253 NP_957705 P82279 CRUM1_HUMAN Homo sapiens crumbs homolog 1 (Drosophila) (CRB1), transcript variant 1, mRNA. 592 Laminin G-like 1. cell-cell signaling|establishment or maintenance of cell polarity apical plasma membrane|extracellular region|integral to membrane calcium ion binding|protein binding p.I592M(2)|p.C591*(1) NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2) 132 AGAAATGCATCGCGAAAGCTC 0.468000 62 18 0 0 0.007413 0 0 OXGR1 27199 broad.mit.edu 37 13 97639629 97639629 + Missense_Mutation SNP T G G TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr13:97639629T>G uc001vmx.1 - 3 629 c.385A>C c.(385-387)Atc>Ctc p.I129L OXGR1_uc010afr.1_Missense_Mutation_p.I129L|OXGR1_uc021rlr.1_Missense_Mutation_p.I129L NM_080818 NP_543008 Q96P68 OXGR1_HUMAN Homo sapiens oxoglutarate (alpha-ketoglutarate) receptor 1 (OXGR1), mRNA. 129 integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled NS(1)|large_intestine(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 15 all_neural(89;0.0982)|Medulloblastoma(90;0.163) BRCA - Breast invasive adenocarcinoma(86;0.186) TAGCGGAAGATGCTGAAACAG 0.448000 20 7 0 0 0.001984 0 0 CNGA2 1260 broad.mit.edu 37 X 150909266 150909266 + Splice_Site SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chrX:150909266G>A uc004fey.1 + 5 599 c.375_splice c.e5-1 p.K125_splice NM_005140 NP_005131 Q16280 CNGA2_HUMAN Homo sapiens cyclic nucleotide gated channel alpha 2 (CNGA2), mRNA. 125 response to stimulus|sensory perception of smell intracellular cyclic nucleotide activated cation channel complex cAMP binding|intracellular cAMP activated cation channel activity breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2) 49 Acute lymphoblastic leukemia(192;6.56e-05) GTCTTCTCAGGAAGAAATTTG 0.507000 46 27 0 0 0.005443 0 0 ODZ3 55714 broad.mit.edu 37 4 183664448 183664448 + Missense_Mutation SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr4:183664448G>A uc003ivd.1 + 17 3580 c.3505G>A c.(3505-3507)Ggt>Agt p.G1169S ODZ3_uc003ive.1_Missense_Mutation_p.G575S NM_001080477 NP_001073946 Q9P273 TEN3_HUMAN Homo sapiens odz, odd Oz/ten-m homolog 3 (Drosophila) (ODZ3), mRNA. 1169 signal transduction integral to membrane p.D1168H(1) 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) TCAAGCTGATGGTAACAAGTT 0.537000 31 5 0 0 0.000602 0 0 SCG5 6447 broad.mit.edu 37 15 32935926 32935926 + Missense_Mutation SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr15:32935926C>T uc001zha.2 + 1 250 c.133C>T c.(133-135)Cat>Tat p.H45Y SCG5_uc001zgz.2_Missense_Mutation_p.H45Y NM_001144757 NP_001138229 P05408 7B2_HUMAN Homo sapiens secretogranin V (7B2 protein) (SCG5), transcript variant 1, mRNA. 45 intracellular protein transport|neuropeptide signaling pathway|peptide hormone processing|regulation of hormone secretion extracellular region|stored secretory granule GTP binding|enzyme inhibitor activity|unfolded protein binding lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 6 all_lung(180;7.32e-08) all cancers(64;6.48e-17)|Epithelial(43;1.23e-11)|GBM - Glioblastoma multiforme(186;1.39e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0212) GAGGCTGCTTCATGGTGTTAT 0.547000 78 12 0 0 0.010729 0 0 CUL9 23113 broad.mit.edu 37 6 43155482 43155482 + Missense_Mutation SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr6:43155482C>T uc003ouk.3 + 6 1688 c.1613C>T c.(1612-1614)tCt>tTt p.S538F CUL9_uc003ouj.1_Missense_Mutation_p.S428F|CUL9_uc003oul.3_Missense_Mutation_p.S538F|CUL9_uc010jyk.3_5'UTR|CUL9_uc003oum.1_5'UTR NM_015089 NP_055904 Q8IWT3 CUL9_HUMAN Homo sapiens cullin 9 (CUL9), mRNA. 538 ubiquitin-dependent protein catabolic process cullin-RING ubiquitin ligase complex|cytoplasm ATP binding|ubiquitin protein ligase binding|zinc ion binding p.I537I(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 GGTGAGATCTCTGTGTCCGTG 0.512000 115 21 0 0 0.010504 0 0 PDE4DIP 9659 broad.mit.edu 37 1 144946681 144946681 + Missense_Mutation SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr1:144946681G>A uc021ouh.1 - 4 882 c.580C>T c.(580-582)Cgg>Tgg p.R194W NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|PDE4DIP_uc001elk.2_Intron|PDE4DIP_uc001ell.2_Intron|PDE4DIP_uc001elm.4_Intron|PDE4DIP_uc001eln.4_Intron|PDE4DIP_uc001elo.3_Intron|PDE4DIP_uc001elw.4_Missense_Mutation_p.R194W|PDE4DIP_uc001elx.4_Missense_Mutation_p.R260W|PDE4DIP_uc001emd.2_Missense_Mutation_p.R194W|PDE4DIP_uc001emc.2_Missense_Mutation_p.R194W NM_001198834 NP_001185763 Q5VU43 MYOME_HUMAN Homo sapiens phosphodiesterase 4D interacting protein (PDE4DIP), transcript variant 9, mRNA. 194 cellular protein complex assembly Golgi apparatus|centrosome|myofibril|nucleus enzyme binding NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 176 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) TGTTTCTCCCGAGATAGCTGT 0.453000 T PDGFRB MPD 64 14 0 0 0.003163 0 0 OR8K3 219473 broad.mit.edu 37 11 56086497 56086497 + Missense_Mutation SNP A T T rs137986069 TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr11:56086497A>T uc010rjf.2 + 0 715 c.715A>T c.(715-717)Acc>Tcc p.T239S NM_001005202 NP_001005202 Q8NH51 OR8K3_HUMAN Homo sapiens olfactory receptor, family 8, subfamily K, member 3 (OR8K3), mRNA. 239 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(2)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|ovary(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 40 Esophageal squamous(21;0.00448) GGCTTTTTCTACCTGTGGAGC 0.428000 52 9 0 0 0.006214 0 0 NBEA 26960 broad.mit.edu 37 13 36124729 36124729 + Missense_Mutation SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr13:36124729G>A uc021rid.1 + 41 7235 c.6701G>A c.(6700-6702)cGa>cAa p.R2234Q NBEA_uc021ric.1_Missense_Mutation_p.R2231Q|NBEA_uc010abi.3_Missense_Mutation_p.R890Q|NBEA_uc010tee.1_Missense_Mutation_p.R27Q|MAB21L1_uc001uvc.3_Intron|NBEA_uc010tef.2_Missense_Mutation_p.R27Q|NBEA_uc010teg.1_Missense_Mutation_p.R27Q NM_015678 NP_056493 Q8NFP9 NBEA_HUMAN Homo sapiens neurobeachin (NBEA), transcript variant 1, mRNA. 2234 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) ATGGCAAACCGAAGTAAGTCC 0.343000 36 6 0 0 0.001168 0 0 KCNU1 157855 broad.mit.edu 37 8 36793081 36793081 + Silent SNP T C C TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr8:36793081T>C uc010lvw.3 + 26 3180 c.3093T>C c.(3091-3093)gaT>gaC p.D1031D NM_001031836 NP_001027006 A8MYU2 KCNU1_HUMAN Homo sapiens potassium channel, subfamily U, member 1 (KCNU1), mRNA. 1031 voltage-gated potassium channel complex binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1) 57 KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634) TGCCTTCAGATCTTGTGTTTT 0.428000 100 24 0 0 0.003330 0 0 PDE6C 5146 broad.mit.edu 37 10 95372614 95372614 + Silent SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr10:95372614C>T uc001kiu.4 + 0 270 c.132C>T c.(130-132)gtC>gtT p.V44V NM_006204 NP_006195 P51160 PDE6C_HUMAN Homo sapiens phosphodiesterase 6C, cGMP-specific, cone, alpha prime (PDE6C), mRNA. 44 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) AGGTGCCAGTCCAGTCCAGCA 0.587000 78 16 0 0 0.003163 0 0 PRSS1 5644 broad.mit.edu 37 7 142457353 142457353 + Silent SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr7:142457353C>T uc003wak.2 + 0 35 c.18C>T c.(16-18)atC>atT p.I6I 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_Silent_p.I6I|PRSS1_uc003wam.2_5'Flank NM_002769 NP_002760 P07477 TRY1_HUMAN Homo sapiens protease, serine, 1 (trypsin 1) (PRSS1), mRNA. 6 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) CACTCCTGATCCTTACCTTTG 0.562000 57 15 0 0 0.004990 0 0 TTN 7273 broad.mit.edu 37 2 179467033 179467033 + Missense_Mutation SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr2:179467033C>T uc021vsy.1 - 231 47617 c.47392G>A c.(47392-47394)Gag>Aag p.E15798K MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.E9493K|TTN_uc021vta.1_Missense_Mutation_p.E9426K|TTN_uc021vtb.1_Missense_Mutation_p.E9301K NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 16725 Fibronectin type-III 14. 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) GCAGGGATCTCCCCAGTTGTA 0.373000 55 11 0 0 0.010729 0 0 IRAK4 51135 broad.mit.edu 37 12 44176257 44176257 + Silent SNP A G G TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr12:44176257A>G uc001rnu.3 + 9 1219 c.1089A>G c.(1087-1089)gaA>gaG p.E363E IRAK4_uc001rnt.3_Silent_p.E363E|IRAK4_uc001rnx.3_Silent_p.E239E|IRAK4_uc001rny.3_Silent_p.E239E|IRAK4_uc010sky.1_Silent_p.E239E|IRAK4_uc001rnv.3_Silent_p.E239E|IRAK4_uc001rnw.3_Silent_p.E239E NM_001114182 NP_001138730 Q9NWZ3 IRAK4_HUMAN Homo sapiens interleukin-1 receptor-associated kinase 4 (IRAK4), transcript variant 1, mRNA. 363 Protein kinase. MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|innate immune response|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway cytosol|endosome membrane|plasma membrane ATP binding|magnesium ion binding|protein serine/threonine kinase activity all_cancers(12;0.00149) Lung NSC(34;0.0804)|all_lung(34;0.181) GBM - Glioblastoma multiforme(48;0.04) TGCGTGGAGAAATAACACCCA 0.388000 44 5 0 0 0.000602 0 0 MUC17 140453 broad.mit.edu 37 7 100683757 100683757 + Silent SNP T G G TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr7:100683757T>G uc003uxp.1 + 2 9113 c.9060T>G c.(9058-9060)acT>acG p.T3020T MUC17_uc010lho.1_Non-coding_Transcript NM_001040105 NP_001035194 Q685J3 MUC17_HUMAN Homo sapiens mucin 17, cell surface associated (MUC17), mRNA. 3020 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) CTGTGACCACTTCTACTGAAG 0.493000 227 64 0 0 0.014410 0 0 SGMS1 259230 broad.mit.edu 37 10 52103686 52103686 + Missense_Mutation SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr10:52103686C>T uc001jje.3 - 6 1143 c.189G>A c.(187-189)atG>atA p.M63I SGMS1_uc010qhk.2_Intron|SGMS1_uc009xot.1_Intron|SGMS1_uc021pqq.1_Missense_Mutation_p.M63I|SGMS1_uc021pqr.1_Intron|SGMS1_uc009xou.1_Missense_Mutation_p.M63I|SGMS1_uc021pqo.1_Missense_Mutation_p.M63I|SGMS1_uc021pqp.1_Non-coding_Transcript NM_147156 NP_671512 Q86VZ5 SMS1_HUMAN Homo sapiens sphingomyelin synthase 1 (SGMS1), mRNA. 69 SAM. apoptosis|cell growth|sphingomyelin biosynthetic process Golgi trans cisterna|endoplasmic reticulum|integral to Golgi membrane|nucleus|plasma membrane ceramide cholinephosphotransferase activity|kinase activity|sphingomyelin synthase activity endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 16 GGGTTTCTATCATGTCCAGGA 0.532000 60 10 0 0 0.010729 0 0 NRXN3 9369 broad.mit.edu 37 14 79270138 79270139 + Missense_Mutation DNP GG AA AA TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr14:79270138_79270139GG>AA uc001xun.3 + 5 1592_1593 c.1101_1102GG>AA c.(1099-1104)gggggg>ggAAgg p.G368R NRXN3_uc001xum.1_Non-coding_Transcript|NRXN3_uc010asv.1_Missense_Mutation_p.G502R NM_004796 NP_004787 Q9HDB5 NRX3B_HUMAN Homo sapiens neurexin 3 (NRXN3), transcript variant 1, mRNA. 146 angiogenesis|cell adhesion integral to membrane p.G368R(2) NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1) 104 Renal(4;0.00876) BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223) AGCTGGATGGGGGGCGTGTCAA 0.535000 37 4 0 0 0.004672 0 0 MUC13 56667 broad.mit.edu 37 3 124646598 124646598 + Missense_Mutation SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr3:124646598G>A uc003ehq.2 - 1 331 c.292C>T c.(292-294)Cct>Tct p.P98S NM_033049 NP_149038 Q9H3R2 MUC13_HUMAN Homo sapiens mucin 13, cell surface associated (MUC13), mRNA. 98 Thr-rich. extracellular region|integral to membrane|plasma membrane breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)|stomach(1) 18 GTAGGTATAGGAATTGTGGAG 0.428000 188 53 0 0 0.014410 0 0 UNC13B 10497 broad.mit.edu 37 9 35236569 35236569 + Missense_Mutation SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr9:35236569C>T uc003zwr.3 + 3 548 c.256C>T c.(256-258)Cgt>Tgt p.R86C UNC13B_uc010mkl.1_Missense_Mutation_p.R86C|UNC13B_uc003zwq.3_Missense_Mutation_p.R86C NM_006377 NP_006368 O14795 UN13B_HUMAN Homo sapiens unc-13 homolog B (C. elegans) (UNC13B), mRNA. 86 excretion|induction of apoptosis|intracellular signal transduction Golgi apparatus|cell junction|synapse metal ion binding|receptor activity breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 63 all_epithelial(49;0.212) LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194) GAAGACTATTCGTCAGTCGGA 0.498000 129 25 0 0 0.007291 0 0 SIGLEC8 27181 broad.mit.edu 37 19 51957508 51957508 + Missense_Mutation SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr19:51957508C>T uc002pwt.3 - 5 1277 c.1210G>A c.(1210-1212)Gaa>Aaa p.E404K SIGLEC8_uc010yda.2_Missense_Mutation_p.E295K|SIGLEC8_uc002pwu.3_Non-coding_Transcript|SIGLEC8_uc010eox.2_Missense_Mutation_p.E311K NM_014442 NP_055257 Q9NYZ4 SIGL8_HUMAN Homo sapiens sialic acid binding Ig-like lectin 8 (SIGLEC8), mRNA. 404 cell adhesion integral to membrane sugar binding|transmembrane receptor activity p.E404Q(2) NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2) 50 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979) TTTGCATCTTCCATGCCTGTA 0.597000 102 16 0 0 0.007413 0 0 KRT16 3868 broad.mit.edu 37 17 39767380 39767380 + Nonsense_Mutation SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr17:39767380G>A uc002hxg.4 - 3 1013 c.874C>T c.(874-876)Cag>Tag p.Q292* JUP_uc010wfs.2_Intron NM_005557 NP_005548 P08779 K1C16_HUMAN Homo sapiens keratin 16 (KRT16), mRNA. 292 Coil 2.|Rod. 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) TGCTCGTACTGGTCACGCATC 0.607000 108 36 0 0 0.008740 0 0 GPR179 440435 broad.mit.edu 37 17 36483959 36483959 + Silent SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr17:36483959C>T uc002hpz.3 - 10 5514 c.5493G>A c.(5491-5493)ttG>ttA p.L1831L NM_001004334 NP_001004334 Q6PRD1 GP179_HUMAN Homo sapiens G protein-coupled receptor 179 (GPR179), mRNA. 1831 integral to membrane|plasma membrane G-protein coupled receptor activity breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 60 Breast(7;2.97e-12) Breast(25;0.0101)|Ovarian(249;0.15) CCTTTTGGTCCAATCCCTTCC 0.517000 107 19 0 0 0.012319 0 0 ODZ1 10178 broad.mit.edu 37 X 123805563 123805563 + Missense_Mutation SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chrX:123805563C>T uc010nqy.3 - 5 1202 c.1138G>A c.(1138-1140)Gga>Aga p.G380R ODZ1_uc011muj.2_Missense_Mutation_p.G379R|ODZ1_uc004euj.3_Missense_Mutation_p.G380R NM_001163278 NP_001156750 Q9UKZ4 TEN1_HUMAN Homo sapiens odz, odd Oz/ten-m homolog 1 (Drosophila) (ODZ1), transcript variant 1, mRNA. 380 immune response|negative regulation of cell proliferation|nervous system development|signal transduction extracellular region heparin binding 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 GAAACTTTTCCTCCAATTGGA 0.403000 37 34 0 0 0.004289 0 0 IL36B 27177 broad.mit.edu 37 2 113783714 113783714 + Silent SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr2:113783714G>A uc002tiq.1 - 4 461 c.357C>T c.(355-357)ttC>ttT p.F119F NM_014438 NP_055253 Q9NZH7 IL36B_HUMAN Homo sapiens interleukin 36, beta (IL36B), transcript variant 1, mRNA. 119 immune response extracellular space cytokine activity|interleukin-1 receptor binding kidney(1)|ovary(1)|pancreas(1) 3 gggttcccatgaagcagctct 0.478000 38 11 0 0 0.013537 0 0 SCN10A 6336 broad.mit.edu 37 3 38760228 38760228 + Silent SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr3:38760228G>A uc003ciq.3 - 19 3597 c.3597C>T c.(3595-3597)ttC>ttT p.F1199F NM_006514 NP_006505 Q9Y5Y9 SCNAA_HUMAN Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA. 1199 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) GCAGCATCTCGAACACAAAGA 0.498000 45 20 0 0 0.008871 0 0 SYT10 341359 broad.mit.edu 37 12 33532766 33532766 + Splice_Site SNP C A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr12:33532766C>A uc001rll.1 - 6 1797 c.1500_splice c.e6+1 p.E500_splice SYT10_uc009zju.1_Splice_Site_p.E310_splice NM_198992 NP_945343 Q6XYQ8 SYT10_HUMAN Homo sapiens synaptotagmin X (SYT10), mRNA. 500 cell junction|integral to membrane|synaptic vesicle membrane metal ion binding|transporter activity NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1) 42 Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334) CACAAGCTTACCTCCAGCAAT 0.418000 65 18 1.87028e-06 2.03934e-06 0.012319 1 0 PMPCA 23203 broad.mit.edu 37 9 139306961 139306961 + Silent SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr9:139306961G>A uc004chl.3 + 2 299 c.294G>A c.(292-294)tcG>tcA p.S98S SDCCAG3_uc004chj.3_5'Flank|SDCCAG3_uc004chk.3_5'Flank|SDCCAG3_uc004chi.3_5'Flank|PMPCA_uc011mdy.1_Silent_p.S98S|PMPCA_uc010nbk.2_Non-coding_Transcript|PMPCA_uc011mdz.2_5'UTR|PMPCA_uc010nbl.3_5'UTR NM_015160 NP_055975 Q10713 MPPA_HUMAN Homo sapiens peptidase (mitochondrial processing) alpha (PMPCA), nuclear gene encoding mitochondrial protein, mRNA. 98 proteolysis mitochondrial inner membrane|mitochondrial matrix metalloendopeptidase activity|zinc ion binding p.S98L(1) endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|urinary_tract(1) 14 Myeloproliferative disorder(178;0.0821) OV - Ovarian serous cystadenocarcinoma(145;9.3e-06)|Epithelial(140;1.15e-05) ATTCAGGATCGAGATATGAAG 0.299000 32 5 0 0 0.000602 0 0 PENK 5179 broad.mit.edu 37 8 57354009 57354009 + Missense_Mutation SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr8:57354009C>T uc003xsz.2 - 1 707 c.626G>A c.(625-627)cGa>cAa p.R209Q PENK_uc003xta.3_Missense_Mutation_p.R209Q NM_006211 NP_006202 P01210 PENK_HUMAN Homo sapiens proenkephalin (PENK), transcript variant 2, mRNA. 209 neuropeptide signaling pathway extracellular region neuropeptide hormone activity|opioid peptide activity central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(2) 21 all_lung(136;0.229) Epithelial(17;0.000873)|all cancers(17;0.0069) GCCCCCATATCGCTTCTGCAG 0.522000 102 39 0 0 0.004878 0 0 LOC399753 399753 broad.mit.edu 37 10 49218498 49218498 + Silent SNP A G G TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr10:49218498A>G uc001jgd.3 - 7 1800 c.1641T>C c.(1639-1641)tcT>tcC p.S547S DQ588224_uc001jge.1_5'Flank Homo sapiens uncharacterized LOC399753 (LOC399753), non-coding RNA. GCTGGCCCAGAGACAGCTCAG 0.582000 111 7 0 0 0.002450 0 0 KRT9 3857 broad.mit.edu 37 17 39724523 39724523 + Missense_Mutation SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr17:39724523C>T uc002hxe.4 - 5 1351 c.1285G>A c.(1285-1287)Gag>Aag p.E429K JUP_uc010wfs.2_Intron NM_000226 NP_000217 P35527 K1C9_HUMAN Homo sapiens keratin 9 (KRT9), mRNA. 429 Coil 2.|Rod. intermediate filament organization|skin development protein binding|structural constituent of cytoskeleton p.E429Q(2) autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 25 Breast(137;0.000307) CACTCGATCTCTTGCCGGACG 0.537000 57 13 0 0 0.013537 0 0 HMGCS2 3158 broad.mit.edu 37 1 120298082 120298082 + Silent SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr1:120298082G>A uc001eid.3 - 5 1243 c.1155C>T c.(1153-1155)tcC>tcT p.S385S HMGCS2_uc010oxj.2_Silent_p.S343S|HMGCS2_uc021osw.1_Silent_p.S151S NM_005518 NP_005509 P54868 HMCS2_HUMAN Homo sapiens 3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial) (HMGCS2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 385 acetoacetic acid biosynthetic process|cholesterol biosynthetic process|isoprenoid biosynthetic process|ketone body biosynthetic process mitochondrial matrix hydroxymethylglutaryl-CoA synthase activity NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 28 all_cancers(5;6.38e-10)|all_epithelial(5;1.1e-10)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219) all_lung(203;1.29e-06)|Lung NSC(69;9.35e-06)|all_epithelial(167;0.00124) Lung(183;0.0112)|LUSC - Lung squamous cell carcinoma(189;0.0595) ACCCGTACAGGGATGAGGTGT 0.562000 445 86 0 0 0.014410 0 0 CACNA1E 777 broad.mit.edu 37 1 181745324 181745324 + Missense_Mutation SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr1:181745324G>A uc009wxt.3 + 37 5422 c.5227G>A c.(5227-5229)Gag>Aag p.E1743K CACNA1E_uc001gow.3_Missense_Mutation_p.E1743K|CACNA1E_uc009wxs.3_Missense_Mutation_p.E1724K|CACNA1E_uc001gox.1_Missense_Mutation_p.E969K NM_001205293 NP_001192222 Q15878 CAC1E_HUMAN Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA. 1743 EF-hand. energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 204 CCACTTGGACGAGTTTGTCCG 0.607000 107 23 0 0 0.014323 0 0 FGD5 152273 broad.mit.edu 37 3 14861871 14861871 + Silent SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr3:14861871G>A uc003bzc.3 + 0 1403 c.1293G>A c.(1291-1293)gtG>gtA p.V431V FGD5_uc011avk.2_Silent_p.V431V NM_152536 NP_689749 Q6ZNL6 FGD5_HUMAN Homo sapiens FYVE, RhoGEF and PH domain containing 5 (FGD5), mRNA. 431 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 NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1) 54 ACCCCTATGTGATGGGAGTGG 0.647000 40 12 0 0 0.013537 0 0 DOPEY2 9980 broad.mit.edu 37 21 37636076 37636076 + Silent SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr21:37636076C>T uc002yvg.3 + 25 5530 c.5451C>T c.(5449-5451)ccC>ccT p.P1817P DOPEY2_uc011aeb.2_Silent_p.P1766P NM_005128 NP_005119 Q9Y3R5 DOP2_HUMAN Homo sapiens dopey family member 2 (DOPEY2), mRNA. 1817 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 CAAGAACTCCCAACCTGGAAA 0.408000 129 27 0 0 0.010818 0 0 OTOGL 283310 broad.mit.edu 37 12 80661098 80661098 + Missense_Mutation SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr12:80661098C>T uc001szd.3 + 20 2435 c.2429C>T c.(2428-2430)tCg>tTg p.S810L NM_173591 NP_775862 Homo sapiens otogelin-like (OTOGL), mRNA. breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1) 23 CCCACACCCTCGGGCTTATGG 0.333000 14 4 0 0 0.000602 0 0 GTF3C2 2976 broad.mit.edu 37 2 27550131 27550131 + Silent SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr2:27550131G>A uc002rju.1 - 17 2860 c.2463C>T c.(2461-2463)ctC>ctT p.L821L MPV17_uc002rjt.3_5'Flank|GTF3C2_uc010eyy.1_Silent_p.L265L|GTF3C2_uc002rjv.1_Silent_p.L810L|GTF3C2_uc002rjw.1_Silent_p.L810L NM_001521 NP_001512 Q8WUA4 TF3C2_HUMAN Homo sapiens general transcription factor IIIC, polypeptide 2, beta 110kDa (GTF3C2), transcript variant 1, mRNA. 810 transcription factor TFIIIC complex central_nervous_system(4)|endometrium(6)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2) 38 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GTTCTCTACGGAGCAGATCAT 0.512000 36 7 0 0 0.003080 0 0 OR5D13 390142 broad.mit.edu 37 11 55541318 55541318 + Silent SNP C T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr11:55541318C>T uc010ril.2 + 0 405 c.405C>T c.(403-405)acC>acT p.T135T NM_001001967 NP_001001967 Q8NGL4 OR5DD_HUMAN Homo sapiens olfactory receptor, family 5, subfamily D, member 13 (OR5D13), mRNA. 135 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1) 40 all_epithelial(135;0.196) TGCTGTATACCACTATTATGT 0.418000 225 34 0 0 0.004878 0 0 SPOCK2 9806 broad.mit.edu 37 10 73823966 73823966 + Nonsense_Mutation SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr10:73823966G>A uc001jso.2 - 8 1406 c.961C>T c.(961-963)Cag>Tag p.Q321* ANAPC16_uc021psn.1_Intron|SPOCK2_uc001jsp.3_Nonsense_Mutation_p.Q321* NM_001244950 NP_001231879 Q92563 TICN2_HUMAN Homo sapiens sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 2 (SPOCK2), transcript variant 3, mRNA. 321 Thyroglobulin type-1. extracellular matrix organization|regulation of cell differentiation|signal transduction|synapse assembly proteinaceous extracellular matrix calcium ion binding endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 9 TCCTGGATCTGGATGCGCTCC 0.652000 39 8 0 0 0.004482 0 0 FAM75E1 286234 broad.mit.edu 37 9 90502479 90502479 + Nonsense_Mutation SNP G A A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr9:90502479G>A uc004app.4 + 3 3112 c.3077G>A c.(3076-3078)tGg>tAg p.W1026* NM_178828 NP_849150 Q6ZUB1 CI079_HUMAN Homo sapiens chromosome 9 open reading frame 79 (C9orf79), mRNA. 1026 integral to membrane GGGTCCCAGTGGGCAAGGGCT 0.592000 38 13 0 0 0.013537 0 0 RBMXL1 494115 broad.mit.edu 37 1 89448604 89448605 + Frame_Shift_Ins INS - GG GG TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr1:89448604_89448605insGG uc021opo.1 - 0 905_906 c.905_906insCC c.(904-906)ccafs p.P302fs CCBL2_uc001dmp.2_Intron|CCBL2_uc001dmq.2_Intron|CCBL2_uc001dmr.2_Intron|RBMXL1_uc009wcx.3_Frame_Shift_Ins_p.P302fs|RBMXL1_uc001dms.3_Frame_Shift_Ins_p.P302fs NM_019610 NP_062556 Q96E39 RBMXL_HUMAN Homo sapiens RNA binding motif protein, X-linked-like 1 (RBMXL1), transcript variant 2, mRNA. 302 Ser-rich. RNA binding|nucleotide binding CACCATAAGATGGCGGGGGCCC 0.475 --- 210 --- --- 7 --- NOTCH2 4853 broad.mit.edu 37 1 120612003 120612004 + Frame_Shift_Del DEL GG - - TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr1:120612003_120612004delGG uc001eik.3 - 0 314_315 c.17_18delCC c.(16-18)cccfs p.P6fs NOTCH2_uc001eil.3_Frame_Shift_Del_p.P6fs|NOTCH2_uc001eim.4_5'UTR NM_024408 NP_077719 Q04721 NOTC2_HUMAN Homo sapiens notch 2 (NOTCH2), transcript variant 1, mRNA. 6 Notch receptor processing|Notch signaling pathway|anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent Golgi lumen|cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|integral to plasma membrane|nucleoplasm calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity p.P6fs*27(4) breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 158 all_neural(166;0.153) all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809) Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133) ACAGCAGAGCGGGGCGCAGGGC 0.762 """N, F, Mis""" """marginal zone lymphoma, DLBCL""" Alagille Syndrome --- 52 --- --- 12 --- PRL 5617 broad.mit.edu 37 6 22287724 22287734 + Frame_Shift_Del DEL ATAATAAGCAG - - TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr6:22287724_22287734delATAATAAGCAG uc003ndp.3 - 4 1100_1110 c.581_591delCTGCTTATTAT c.(580-591)tctgcttattatfs p.S194fs PRL_uc003ndo.3_Frame_Shift_Del_p.S195fs|PRL_uc003ndq.3_Frame_Shift_Del_p.S194fs NM_000948 NP_001157030 P01236 PRL_HUMAN Homo sapiens prolactin (PRL), transcript variant 1, mRNA. 194 cell proliferation|cell surface receptor linked signaling pathway|female pregnancy|lactation|positive regulation of JAK-STAT cascade|regulation of multicellular organism growth cytosol|extracellular region hormone activity|prolactin receptor binding NS(1)|endometrium(2)|large_intestine(6)|lung(6)|prostate(1) 16 Ovarian(93;0.163) GGAGCAGGTTATAATAAGCAGAAAGGCGAGA 0.460 --- 59 --- --- 7 --- TPSG1 25823 broad.mit.edu 37 16 1272296 1272304 + In_Frame_Del DEL ACGGAGACT - - rs146081704 byFrequency TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr16:1272296_1272304delACGGAGACT uc002ckw.2 - 4 551_559 c.549_557delAGTCTCCGT c.(547-558)aaagtctccgtg>aag p.VSV184del NM_012467 NP_036599 Q9NRR2 TRYG1_HUMAN Homo sapiens tryptase gamma 1 (TPSG1), mRNA. 184 Peptidase S1. proteolysis integral to plasma membrane serine-type endopeptidase activity liver(1)|lung(2)|skin(1) 4 Hepatocellular(780;0.00369) TGTGTCCACCACGGAGACTTTCACCTCCC 0.699 --- 109 --- --- 15 --- EPB41L3 23136 broad.mit.edu 37 18 5395607 5395607 + Splice_Site DEL C - - TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr18:5395607delC uc002kmt.1 - 20 3158 c.3072_splice c.e20+1 p.K1024_splice EPB41L3_uc010wzh.1_Splice_Site_p.K855_splice|EPB41L3_uc002kmu.1_Splice_Site_p.K802_splice|EPB41L3_uc010dkq.1_Splice_Site_p.K693_splice|EPB41L3_uc002kms.1_Splice_Site_p.K259_splice|EPB41L3_uc010wze.1_Splice_Site_p.K329_splice|EPB41L3_uc010wzf.1_Splice_Site_p.K321_splice|EPB41L3_uc010wzg.1_Splice_Site_p.K296_splice|EPB41L3_uc010dkr.2_Splice_Site_p.K416_splice NM_012307 NP_036439 Q9Y2J2 E41L3_HUMAN Homo sapiens erythrocyte membrane protein band 4.1-like 3 (EPB41L3), mRNA. 1024 Carboxyl-terminal (CTD). cortical actin cytoskeleton organization cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane actin binding|structural molecule activity breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 105 ACTCCACTTACTTTGGTGATG 0.542 --- 160 --- --- 46 --- KCNG2 26251 broad.mit.edu 37 18 77623691 77623692 + In_Frame_Ins INS - GGC GGC rs71338073 TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr18:77623691_77623692insGGC uc010xfl.2 + 0 24_25 c.24_25insGGC c.(22-27)insGGC p.13_14insG NM_012283 NP_036415 Q9UJ96 KCNG2_HUMAN Homo sapiens potassium voltage-gated channel, subfamily G, member 2 (KCNG2), mRNA. 13 Poly-Gly. energy reserve metabolic process|regulation of heart contraction|regulation of insulin secretion voltage-gated potassium channel complex delayed rectifier potassium channel activity p.P8_G9insG(2) breast(2)|endometrium(4)|lung(7)|skin(1)|upper_aerodigestive_tract(4) 18 Esophageal squamous(42;0.0157)|Melanoma(33;0.144) OV - Ovarian serous cystadenocarcinoma(15;6.92e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0244) CCTGCTccccgggcggcggcgg 0.772 --- 3 --- --- 4 --- MFSD12 126321 broad.mit.edu 37 19 3542858 3542859 + Frame_Shift_Ins INS - G G TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr19:3542858_3542859insG uc002lxw.3 - 9 1707_1708 c.1537_1538insC c.(1537-1539)ctgfs p.L513fs MFSD12_uc002lxx.3_Intron|MFSD12_uc010dtl.1_5'Flank|C19orf71_uc010xhm.2_Intron NM_021731 NP_068377 Q6NUT3 CS028_HUMAN Homo sapiens major facilitator superfamily domain containing 12 (MFSD12), transcript variant 1, mRNA. 0 transmembrane transport integral to membrane cervix(1)|endometrium(2)|lung(4)|urinary_tract(2) 9 CCTCCAGGCCAGGGGGGCTTCC 0.629 --- 46 --- --- 9 --- COL5A3 50509 broad.mit.edu 37 19 10112552 10112552 + Frame_Shift_Del DEL G - - TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr19:10112552delG uc002mmq.1 - 6 941 c.855delC c.(853-855)tccfs p.S285fs NM_015719 NP_056534 P25940 CO5A3_HUMAN Homo sapiens collagen, type V, alpha 3 (COL5A3), mRNA. 285 Nonhelical region. collagen fibril organization|skin development collagen type V collagen binding|extracellular matrix structural constituent NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 116 Epithelial(33;7.11e-05) GGATGTCAGTGGAGGTCTGGA 0.607 OREG0025228 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) --- 59 --- --- 9 --- ZNF473 25888 broad.mit.edu 37 19 50549329 50549330 + Frame_Shift_Ins INS - T T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chr19:50549329_50549330insT uc002prn.3 + 4 1866_1867 c.1629_1630insT c.(1627-1632)ggatttfs p.G543fs ZNF473_uc002prm.3_Frame_Shift_Ins_p.G543fs|ZNF473_uc010ybo.2_Frame_Shift_Ins_p.G531fs NM_001006656 NP_056243 Q8WTR7 ZN473_HUMAN Homo sapiens zinc finger protein 473 (ZNF473), transcript variant 2, mRNA. 543 Interaction with SLBP/pre-mRNA complex. histone mRNA 3'-end processing|regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription Cajal body DNA binding|protein binding|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 37 all_neural(266;0.0459)|Ovarian(192;0.0728) GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058) AAAAACAAGGATTTTTTGTGAG 0.446 --- 61 --- --- 9 --- S100G 795 broad.mit.edu 37 X 16669137 16669148 + In_Frame_Del DEL CTAAAAAGTCTC - - TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3aeaffa-4945-401e-8d62-6dd7e409850b c44834c6-cc01-4012-9684-adabd1c3b24b g.chrX:16669137_16669148delCTAAAAAGTCTC uc004cxn.1 + 1 62_73 c.8_19delCTAAAAAGTCTC c.(7-21)actaaaaagtctcct>act p.KKSP4del CTPS2_uc004cxk.3_Intron|CTPS2_uc004cxl.3_Intron|CTPS2_uc004cxm.3_Intron NM_004057 NP_004048 P29377 S100G_HUMAN Homo sapiens S100 calcium binding protein G (S100G), mRNA. 4 calcium ion binding|vitamin D binding p.K5M(1) large_intestine(1)|lung(1) 2 Hepatocellular(33;0.0997) AGAATGAGTACTAAAAAGTCTCCTGAGGAACT 0.382 --- 39 --- --- 10 ---