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 C1orf173 127254 broad.mit.edu 37 1 75107096 75107096 + Silent SNP A G G TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr1:75107096A>G uc001dgg.3 - 4 582 c.363T>C c.(361-363)tcT>tcC p.S121S NM_001002912 NP_001002912 Q5RHP9 CA173_HUMAN Homo sapiens chromosome 1 open reading frame 173 (C1orf173), mRNA. 121 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 GTGGGTGGGGAGACAGGATTG 0.418000 94 4 0 0 0.009096 0 0 LIG1 3978 broad.mit.edu 37 19 48640919 48640919 + Missense_Mutation SNP C T T TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr19:48640919C>T uc002pia.1 - 12 1234 c.1114G>A c.(1114-1116)Gag>Aag p.E372K LIG1_uc010xze.1_Missense_Mutation_p.E65K|LIG1_uc002phz.1_Non-coding_Transcript|LIG1_uc002pib.1_Non-coding_Transcript|LIG1_uc010xzf.1_Missense_Mutation_p.E304K|LIG1_uc010xzg.1_Missense_Mutation_p.E341K|LIG1_uc010xzh.1_Non-coding_Transcript NM_000234 NP_000225 P18858 DNLI1_HUMAN Homo sapiens ligase I, DNA, ATP-dependent (LIG1), mRNA. 372 DNA ligation involved in DNA repair|DNA strand elongation involved in DNA replication|S phase of mitotic cell cycle|anatomical structure morphogenesis|base-excision repair|cell division|double-strand break repair via homologous recombination|nucleotide-excision repair, DNA gap filling|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair nucleoplasm ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding breast(1)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(22)|prostate(2)|skin(1) 44 all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203) OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329) Bleomycin(DB00290) TCGGCTGCCTCAGCCCGGACG 0.687000 Nucleotide excision repair (NER) 35 4 0 0 0.009096 0 0 SLC25A53 401612 broad.mit.edu 37 X 103349556 103349557 + Missense_Mutation DNP CC TT TT TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chrX:103349556_103349557CC>TT uc022cbz.1 - 0 384_385 c.384_385GG>AA c.(382-387)gaggcc>gaAAcc p.A129T SLC25A53_uc004elu.3_Missense_Mutation_p.A129T NM_001012755 NP_001012773 Q5H9E4 MCAR6_HUMAN Homo sapiens mitochondrial carrier triple repeat 6 (MCART6), nuclear gene encoding mitochondrial protein, mRNA. 129 transport integral to membrane|mitochondrial inner membrane AGTGCCACGGCCTCCACCACGC 0.574000 68 24 0 0 0.115264 0 0 UBTF 7343 broad.mit.edu 37 17 42290269 42290269 + Missense_Mutation SNP G A A TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr17:42290269G>A uc010czs.3 - 6 874 c.578C>T c.(577-579)tCg>tTg p.S193L UBTF_uc002igc.3_Missense_Mutation_p.S193L|UBTF_uc002igd.3_Missense_Mutation_p.S193L|UBTF_uc010czt.3_Missense_Mutation_p.S193L|UBTF_uc002ige.2_Missense_Mutation_p.S193L NM_014233 NP_055048 P17480 UBF1_HUMAN Homo sapiens upstream binding transcription factor, RNA polymerase I (UBTF), transcript variant 1, mRNA. 193 positive regulation of transcription from RNA polymerase I promoter|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter nucleolus|nucleoplasm DNA binding|protein binding breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(10)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 Breast(137;0.00765)|Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.114) TGGGATGTCCGATTTCTTGGC 0.587000 170 25 0 0 0.125774 0 0 KCNH4 23415 broad.mit.edu 37 17 40328133 40328133 + Silent SNP G A A TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr17:40328133G>A uc002hzb.2 - 4 1101 c.768C>T c.(766-768)acC>acT p.T256T NM_012285 NP_036417 Q9UQ05 KCNH4_HUMAN Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 4 (KCNH4), mRNA. 256 regulation of transcription, DNA-dependent voltage-gated potassium channel complex two-component sensor activity|voltage-gated potassium channel activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1) 32 all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.126) AAGTGATGGGGGTGTCATCGT 0.592000 130 22 0 0 0.076483 0 0 ANKRD29 147463 broad.mit.edu 37 18 21181252 21181252 + Silent SNP G A A TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr18:21181252G>A uc002kun.3 - 9 999 c.844C>T c.(844-846)Cta>Tta p.L282L ANKRD29_uc002kuo.3_Silent_p.L249L NM_173505 NP_775776 Q8N6D5 ANR29_HUMAN Homo sapiens ankyrin repeat domain 29 (ANKRD29), mRNA. 282 breast(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|skin(1) 13 all_cancers(21;5.07e-05)|all_epithelial(16;2.49e-07)|Lung NSC(20;0.00211)|all_lung(20;0.00676)|Colorectal(14;0.0202)|Ovarian(20;0.127) TTTTTGGTTAGTTCTGCCGGA 0.433000 51 8 0 0 0.047766 0 0 CNDP2 55748 broad.mit.edu 37 18 72186305 72186305 + Silent SNP C T T TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr18:72186305C>T uc002llm.2 + 10 1591 c.1332C>T c.(1330-1332)gcC>gcT p.A444A CNDP2_uc002lln.2_Silent_p.A360A NM_018235 NP_060705 Q96KP4 CNDP2_HUMAN Homo sapiens CNDP dipeptidase 2 (metallopeptidase M20 family) (CNDP2), transcript variant 1, mRNA. 444 cytoplasm carboxypeptidase activity|metal ion binding|metallopeptidase activity|protein binding|tripeptidase activity breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(5)|ovary(2)|skin(2)|stomach(3) 24 Esophageal squamous(42;0.131)|Prostate(75;0.173) BRCA - Breast invasive adenocarcinoma(31;0.22) ATGACGGAGCCCACTCCCAGA 0.632000 46 8 0 0 0.038147 0 0 POTEC 388468 broad.mit.edu 37 18 14513675 14513675 + Missense_Mutation SNP T C C TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr18:14513675T>C uc010dln.3 - 9 1973 c.1519A>G c.(1519-1521)Aaa>Gaa p.K507E POTEC_uc010xaj.2_Non-coding_Transcript NM_001137671 NP_001131143 B2RU33 POTEC_HUMAN Homo sapiens POTE ankyrin domain family, member C (POTEC), mRNA. 507 p.K507E(4) NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3) 52 GAATTCATTTTCTTTTCAGCC 0.284000 107 3 0 0 0.009096 0 0 ADIPOQ 9370 broad.mit.edu 37 3 186572328 186572328 + Silent SNP G A A TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr3:186572328G>A uc010hyy.3 + 3 705 c.570G>A c.(568-570)caG>caA p.Q190Q ADIPOQ_uc003fra.3_Silent_p.Q190Q NM_001177800 NP_004788 Q15848 ADIPO_HUMAN Homo sapiens adiponectin, C1Q and collagen domain containing (ADIPOQ), transcript variant 1, mRNA. 190 C1q. brown fat cell differentiation|cellular response to drug|cellular response to insulin stimulus|detection of oxidative stress|fatty acid beta-oxidation|generation of precursor metabolites and energy|glucose homeostasis|glucose metabolic process|low-density lipoprotein particle clearance|negative regulation of DNA biosynthetic process|negative regulation of ERK1 and ERK2 cascade|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of MAP kinase activity|negative regulation of blood pressure|negative regulation of eukaryotic cell surface binding|negative regulation of fat cell differentiation|negative regulation of gluconeogenesis|negative regulation of granulocyte differentiation|negative regulation of heterotypic cell-cell adhesion|negative regulation of inflammatory response|negative regulation of intracellular protein transport|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|negative regulation of macrophage differentiation|negative regulation of phagocytosis|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein autophosphorylation|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell proliferation|negative regulation of synaptic transmission|negative regulation of transcription, DNA-dependent|negative regulation of tumor necrosis factor production|negative regulation of tumor necrosis factor-mediated signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of cAMP-dependent protein kinase activity|positive regulation of cholesterol efflux|positive regulation of fatty acid metabolic process|positive regulation of glucose import|positive regulation of glycogen (starch) synthase activity|positive regulation of interleukin-8 production|positive regulation of metanephric glomerular visceral epithelial cell development|positive regulation of monocyte chemotactic protein-1 production|positive regulation of myeloid cell apoptosis|positive regulation of protein kinase A signaling cascade|positive regulation of renal albumin absorption|protein homooligomerization|protein localization in plasma membrane|response to glucose stimulus|response to tumor necrosis factor collagen|endoplasmic reticulum|extracellular space cytokine activity|eukaryotic cell surface binding|hormone activity|protein homodimerization activity breast(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|skin(2) 16 all_cancers(143;1.2e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;1.47e-19) GBM - Glioblastoma multiforme(93;0.0776) ATCAGTACCAGGAAAATAATG 0.512000 83 12 0 0 0.093190 0 0 ARID2 196528 broad.mit.edu 37 12 46243878 46243878 + Nonsense_Mutation SNP C T T TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr12:46243878C>T uc001ros.1 + 14 1972 c.1972C>T c.(1972-1974)Caa>Taa p.Q658* ARID2_uc001ror.3_Nonsense_Mutation_p.Q658*|ARID2_uc009zkg.1_Nonsense_Mutation_p.Q114*|ARID2_uc009zkh.1_Nonsense_Mutation_p.Q285*|ARID2_uc001rou.1_5'UTR NM_152641 NP_689854 Q68CP9 ARID2_HUMAN Homo sapiens AT rich interactive domain 2 (ARID, RFX-like) (ARID2), mRNA. 658 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 116 Lung SC(27;0.192)|Renal(347;0.236) Lung NSC(34;0.106)|all_lung(34;0.22) OV - Ovarian serous cystadenocarcinoma(5;0.00691) GBM - Glioblastoma multiforme(48;0.0153) TGTTGCCAACCAATCTTCAAA 0.383000 """N, S, F""" hepatocellular carcinoma 123 13 0 0 0.132662 0 0 RP1 6101 broad.mit.edu 37 8 55538745 55538745 + Missense_Mutation SNP C T T TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr8:55538745C>T uc003xsd.1 + 3 2451 c.2303C>T c.(2302-2304)tCc>tTc p.S768F RP1_uc011ldy.1_Intron NM_006269 NP_006260 P56715 RP1_HUMAN Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA. 768 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 p.S768F(2)|p.S768C(2) 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) ACTCAAAATTCCAAGGTTCAA 0.289000 24 5 0 0 0.029380 0 0 C4orf37 285555 broad.mit.edu 37 4 98762037 98762037 + Missense_Mutation SNP A G G TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr4:98762037A>G uc003htt.2 - 8 1181 c.1091T>C c.(1090-1092)aTg>aCg p.M364T NM_174952 NP_777612 Q8N412 CD037_HUMAN Homo sapiens chromosome 4 open reading frame 37 (C4orf37), mRNA. 364 cervix(1)|kidney(3)|large_intestine(8)|lung(9)|prostate(3)|stomach(1) 25 OV - Ovarian serous cystadenocarcinoma(123;2.27e-08) AACTTGGGACATCTCATATGA 0.358000 75 5 0 0 0.029380 0 0 ZDHHC8 29801 broad.mit.edu 37 22 20128799 20128800 + Missense_Mutation DNP CC TT TT TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr22:20128799_20128800CC>TT uc002zrr.2 + 7 1061_1062 c.954_955CC>TT c.(952-957)cccccc>ccTTcc p.P319S ZDHHC8_uc002zrq.3_Missense_Mutation_p.P319S|ZDHHC8_uc010gsa.3_Missense_Mutation_p.P125S NM_001185024 NP_001171953 Q9ULC8 ZDHC8_HUMAN Homo sapiens zinc finger, DHHC-type containing 8 (ZDHHC8), transcript variant 1, mRNA. 319 cytoplasmic vesicle membrane|integral to membrane acyltransferase activity|zinc ion binding breast(2)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(1)|prostate(1) 20 Colorectal(54;0.0993) CACCACTGCCCCCCAAGATAGA 0.649000 36 5 0 0 0.115264 0 0 CSMD2 114784 broad.mit.edu 37 1 34401498 34401498 + Missense_Mutation SNP C T T TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr1:34401498C>T uc001bxm.1 - 3 752 c.575G>A c.(574-576)gGt>gAt p.G192D CSMD2_uc001bxn.1_Missense_Mutation_p.G152D NM_052896 NP_443128 Q7Z408 CSMD2_HUMAN Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA. 152 Sushi 1. 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) GAAGGTTGAACCCTGCTGGAT 0.602000 103 20 0 0 0.062417 0 0 KRTAP10-12 386685 broad.mit.edu 37 21 46117232 46117233 + Missense_Mutation DNP CC TT TT TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr21:46117232_46117233CC>TT uc002zfw.1 + 0 146_147 c.116_117CC>TT c.(115-117)ccc>cTT p.P39L TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron NM_198699 NP_941972 P60413 KR10C_HUMAN Homo sapiens keratin associated protein 10-12 (KRTAP10-12), mRNA. 39 19 X 5 AA repeats of C-C-X(3). keratin filament large_intestine(1)|lung(8) 9 TGCTGTGAGCCCCCCTGCTGCG 0.683000 119 18 0 0 0.115264 0 0 DTX2P1-UPK3BP1-PMS2P11 441263 broad.mit.edu 37 7 76619638 76619638 + RNA SNP G A A TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr7:76619638G>A uc011kgn.1 + 1 c.492G>A DTX2P1-UPK3BP1-PMS2P11_uc003ufw.4_Non-coding_Transcript Homo sapiens DTX2P1-UPK3BP1-PMS2P11 readthrough (non-protein coding) (DTX2P1-UPK3BP1-PMS2P11), non-coding RNA. CCCTGCCACTGTGCCCATGCA 0.642000 49 4 0 0 0.038147 0 0 ACSM1 116285 broad.mit.edu 37 16 20634851 20634851 + Missense_Mutation SNP A G G rs142695037 byFrequency TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr16:20634851A>G uc002dhm.1 - 12 1759 c.1691T>C c.(1690-1692)aTt>aCt p.I564T ACSM1_uc002dhn.1_Non-coding_Transcript|ACSM1_uc010bwg.1_Missense_Mutation_p.I564T NM_052956 NP_443188 Q08AH1 ACSM1_HUMAN Homo sapiens acyl-CoA synthetase medium-chain family member 1 (ACSM1), mRNA. 564 benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process mitochondrial matrix ATP binding|GTP binding|acyl-CoA ligase activity|butyrate-CoA ligase activity|metal ion binding central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2) 42 CTTCCGTTCAATCTTGCCAGT 0.473000 99 3 0 0 0.115264 0 0 CCDC121 79635 broad.mit.edu 37 2 27849834 27849834 + Missense_Mutation SNP T G G TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr2:27849834T>G uc002rld.3 - 1 1434 c.1319A>C c.(1318-1320)aAg>aCg p.K440T ZNF512_uc010yly.1_Intron|CCDC121_uc002rle.3_Missense_Mutation_p.K278T|CCDC121_uc021vfe.1_Missense_Mutation_p.K278T|GPN1_uc010ezf.3_5'Flank|GPN1_uc010yma.2_5'Flank|GPN1_uc010ymb.2_5'Flank|GPN1_uc010ymd.2_5'Flank|GPN1_uc010ymc.2_5'Flank|GPN1_uc010ezg.1_5'Flank NM_001142683 NP_078860 Q6ZUS5 CC121_HUMAN Homo sapiens coiled-coil domain containing 121 (CCDC121), transcript variant 2, mRNA. 278 breast(1)|endometrium(3)|large_intestine(2)|lung(6)|prostate(2) 14 Acute lymphoblastic leukemia(172;0.155) TAGAAGTTACTTTGGATTAAT 0.398000 135 14 0 0 0.119110 0 0 PTPRF 5792 broad.mit.edu 37 1 44070930 44070931 + Missense_Mutation DNP CC GT GT TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr1:44070930_44070931CC>GT uc001cjr.3 + 17 3545_3546 c.3205_3206CC>GT c.(3205-3207)ccc>GTc p.P1069V PTPRF_uc001cjs.3_Missense_Mutation_p.P1060V|PTPRF_uc001cju.3_Missense_Mutation_p.P447V|PTPRF_uc009vwt.3_Missense_Mutation_p.P629V|PTPRF_uc001cjv.3_Missense_Mutation_p.P529V|PTPRF_uc001cjw.3_Missense_Mutation_p.P295V NM_002840 NP_002831 P10586 PTPRF_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, F (PTPRF), transcript variant 1, mRNA. 1069 Fibronectin type-III 8. transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane transmembrane receptor protein tyrosine phosphatase activity 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) AGACCTGCAGCCCAACACAGAG 0.624000 104 14 0 0 0.115264 0 0 KCNJ3 3760 broad.mit.edu 37 2 155711304 155711304 + Missense_Mutation SNP C T T TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr2:155711304C>T uc002tyv.1 + 2 1180 c.985C>T c.(985-987)Cct>Tct p.P329S KCNJ3_uc010zce.1_3'UTR NM_002239 NP_002230 P48549 IRK3_HUMAN Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 3 (KCNJ3), mRNA. 329 synaptic transmission voltage-gated potassium channel complex G-protein activated inward rectifier potassium channel activity|protein binding breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 54 Halothane(DB01159) TCGTTTTTTTCCTGTAATTTC 0.388000 52 4 0 0 0.009096 0 0 GAS2 2620 broad.mit.edu 37 11 22777399 22777399 + Missense_Mutation SNP G A A TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr11:22777399G>A uc009yie.3 + 6 929 c.623G>A c.(622-624)cGa>cAa p.R208Q GAS2_uc001mqm.3_Missense_Mutation_p.R208Q|GAS2_uc001mqn.3_Non-coding_Transcript|GAS2_uc001mqo.3_Missense_Mutation_p.R208Q NM_001143830 NP_808221 O43903 GAS2_HUMAN Homo sapiens growth arrest-specific 2 (GAS2), transcript variant 3, mRNA. 208 GAR. cell cycle arrest|cellular component disassembly involved in apoptosis|regulation of cell shape actin filament|cytosol|membrane p.R208Q(2) breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(4)|stomach(1) 24 CAGGTGAAACGAATTTCTGAA 0.448000 31 5 0 0 0.021553 0 0 USP11 8237 broad.mit.edu 37 X 47101088 47101088 + Missense_Mutation SNP G A A TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chrX:47101088G>A uc004dhp.3 + 8 1298 c.1298G>A c.(1297-1299)cGa>cAa p.R433Q USP11_uc004dhq.3_Missense_Mutation_p.R160Q NM_004651 NP_004642 P51784 UBP11_HUMAN Homo sapiens ubiquitin specific peptidase 11 (USP11), mRNA. 433 protein deubiquitination|ubiquitin-dependent protein catabolic process cytoplasm|nucleus cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(2)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|ovary(3)|pancreas(1)|stomach(1) 40 GCTGCTGGGCGACCGGATCAG 0.577000 17 3 0 0 0.009096 0 0 SFXN4 119559 broad.mit.edu 37 10 120907304 120907304 + Missense_Mutation SNP G T T TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr10:120907304G>T uc001leb.3 - 11 846 c.801C>A c.(799-801)ttC>ttA p.F267L SFXN4_uc001ldy.3_Missense_Mutation_p.F151L|SFXN4_uc001lea.3_Non-coding_Transcript NM_213649 NP_998814 Q6P4A7 SFXN4_HUMAN Homo sapiens sideroflexin 4 (SFXN4), mRNA. 267 iron ion homeostasis integral to membrane|mitochondrial membrane cation transmembrane transporter activity central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1) 11 Lung NSC(174;0.094)|all_lung(145;0.123) all cancers(201;0.0261) AAAAGTAGGTGAAGACTTCAG 0.423000 75 22 1.2476e-16 1.29191e-16 0.116897 1 0 UBA3 9039 broad.mit.edu 37 3 69127023 69127023 + Missense_Mutation SNP G A A TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr3:69127023G>A uc003dno.3 - 2 129 c.109C>T c.(109-111)Cgc>Tgc p.R37C UBA3_uc003dnq.3_Missense_Mutation_p.R23C|UBA3_uc011bfy.2_5'UTR|UBA3_uc011bfz.2_5'UTR NM_003968 NP_003959 Q8TBC4 UBA3_HUMAN Homo sapiens ubiquitin-like modifier activating enzyme 3 (UBA3), transcript variant 1, mRNA. 37 protein neddylation|proteolysis nucleus ATP binding|acid-amino acid ligase activity|protein heterodimerization activity endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 19 Lung NSC(201;0.0193)|Prostate(884;0.174) BRCA - Breast invasive adenocarcinoma(55;7.98e-05)|Epithelial(33;0.000363)|LUSC - Lung squamous cell carcinoma(21;0.012)|Lung(16;0.0191)|KIRC - Kidney renal clear cell carcinoma(39;0.206)|Kidney(39;0.241) TGGTTCCAGCGACCTTCCCAG 0.458000 195 39 0 0 0.131918 0 0 GNAI3 2773 broad.mit.edu 37 1 110125063 110125063 + Silent SNP C T T TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr1:110125063C>T uc001dxz.2 + 4 623 c.466C>T c.(466-468)Cta>Tta p.L156L NM_006496 NP_006487 P08754 GNAI3_HUMAN Homo sapiens guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 3 (GNAI3), mRNA. 156 cell cycle|cell division|inhibition of adenylate cyclase activity by G-protein signaling pathway|platelet activation|synaptic transmission centrosome|heterotrimeric G-protein complex|midbody G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|metabotropic serotonin receptor binding|signal transducer activity NS(1)|endometrium(2)|kidney(1)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 12 all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244) Lung(183;0.046)|Colorectal(144;0.119)|Epithelial(280;0.139)|all cancers(265;0.147)|LUSC - Lung squamous cell carcinoma(189;0.237) ATTTAGTTATCTAAATGATCT 0.358000 75 10 0 0 0.058154 0 0 MBD5 55777 broad.mit.edu 37 2 149227047 149227048 + Missense_Mutation DNP CC TT TT rs147908860 TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr2:149227047_149227048CC>TT uc002twm.4 + 8 2532_2533 c.1535_1536CC>TT c.(1534-1536)tcc>tTT p.S512F MBD5_uc010zbs.2_Non-coding_Transcript|MBD5_uc002twn.1_5'Flank NM_018328 NP_060798 Q9P267 MBD5_HUMAN Homo sapiens methyl-CpG binding domain protein 5 (MBD5), mRNA. 512 chromosome|nucleus DNA binding|chromatin binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3) 62 BRCA - Breast invasive adenocarcinoma(221;0.0569) TCTACCAAGTCCGATGGACATC 0.475000 59 5 0 0 0.115264 0 0 RELN 5649 broad.mit.edu 37 7 103141356 103141356 + Missense_Mutation SNP T C C TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr7:103141356T>C uc022ajr.1 - 52 8663 c.8503A>G c.(8503-8505)Agg>Ggg p.R2835G RELN_uc022ajq.1_Missense_Mutation_p.R2835G|RELN_uc010liz.3_Missense_Mutation_p.R2835G NM_005045 NP_005036 P78509 RELN_HUMAN Homo sapiens reelin (RELN), transcript variant 1, mRNA. 2835 axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2) 227 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) TGATAGAACCTAAACCTTACC 0.433000 129 17 0 0 0.043863 0 0 OR4N4 283694 broad.mit.edu 37 15 22382594 22382594 + Missense_Mutation SNP G A A TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr15:22382594G>A uc001yuc.1 + 6 1103 c.122G>A c.(121-123)gGa>gAa p.G41E abParts_uc001yuj.2_Intron|OR4N4_uc001yub.1_Non-coding_Transcript|OR4N4_uc010tzv.2_Missense_Mutation_p.G41E NM_001005241 NP_001005241 Q8N0Y3 OR4N4_HUMAN Homo sapiens olfactory receptor, family 4, subfamily N, member 4 (OR4N4), mRNA. 41 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 40 all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101) GBM - Glioblastoma multiforme(6;0.124) all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963) ATCCTCCCTGGAAATTTTCTC 0.443000 246 21 0 0 0.083992 0 0 KIF27 55582 broad.mit.edu 37 9 86474171 86474171 + Missense_Mutation SNP G A A TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr9:86474171G>A uc004ana.3 - 13 3194 c.3050C>T c.(3049-3051)tCa>tTa p.S1017L KIF27_uc010mpw.3_Missense_Mutation_p.S951L|KIF27_uc010mpx.3_Missense_Mutation_p.S920L NM_017576 NP_060046 Q86VH2 KIF27_HUMAN Homo sapiens kinesin family member 27 (KIF27), mRNA. 1017 cilium assembly|microtubule-based movement cilium|cytoplasm|microtubule ATP binding|microtubule motor activity breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 43 AACTTGTTCTGAAATCTTTGT 0.398000 103 18 0 0 0.043863 0 0 ADAMTS16 170690 broad.mit.edu 37 5 5239964 5239964 + Missense_Mutation SNP G A A TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr5:5239964G>A uc003jdl.3 + 15 2587 c.2449G>A c.(2449-2451)Gac>Aac p.D817N ADAMTS16_uc003jdk.1_Missense_Mutation_p.D817N NM_139056 NP_620687 Q8TE57 ATS16_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 16 (ADAMTS16), mRNA. 817 Spacer. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding p.D817N(6) 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 CACTACTTTCGACTACAGACG 0.517000 110 15 0 0 0.119110 0 0 ABCA3 21 broad.mit.edu 37 16 2373618 2373618 + Silent SNP C G G TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr16:2373618C>G uc002cpy.1 - 6 1231 c.519G>C c.(517-519)ctG>ctC p.L173L ABCA3_uc010bsk.1_Silent_p.L173L|ABCA3_uc010bsl.1_Silent_p.L173L|ABCA3_uc002cpz.1_Silent_p.L173L NM_001089 NP_001080 Q99758 ABCA3_HUMAN Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 3 (ABCA3), mRNA. 173 response to drug integral to membrane|lamellar body|membrane fraction|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances p.F172F(1) breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1) 70 Ovarian(90;0.17) CTGTCTCTTTCAGGAAAAAGG 0.488000 405 6 0 0 0.029380 0 0 SERPINA3 12 broad.mit.edu 37 14 95088720 95088721 + Missense_Mutation DNP GG AA AA TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr14:95088720_95088721GG>AA uc001ydp.3 + 3 1119_1120 c.960_961GG>AA c.(958-963)agggac>agAAac p.D321N SERPINA3_uc001ydo.4_Missense_Mutation_p.D346N|SERPINA3_uc001ydr.3_Non-coding_Transcript|SERPINA3_uc021sbb.1_Intron|SERPINA3_uc010avg.3_Missense_Mutation_p.D321N|SERPINA3_uc001yds.3_Missense_Mutation_p.D321N NM_001085 NP_001076 P01011 AACT_HUMAN Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3 (SERPINA3), mRNA. 321 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) CCATCTCGAGGGACTATAACCT 0.495000 73 14 0 0 0.115264 0 0 MTUS2 23281 broad.mit.edu 37 13 29599397 29599397 + Missense_Mutation SNP G T T TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr13:29599397G>T uc001usl.4 + 0 650 c.592G>T c.(592-594)Ggg>Tgg p.G198W NM_001033602 NP_001028774 Q5JR59 MTUS2_HUMAN Homo sapiens microtubule associated tumor suppressor candidate 2 (MTUS2), transcript variant 1, mRNA. 188 cytoplasm|microtubule microtubule binding|protein homodimerization activity p.G198R(1) NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1) 20 AGCTGCAGTCGGGAGCCTGAC 0.582000 54 6 2.7689e-08 2.85943e-08 0.029380 1 0 AIM1L 55057 broad.mit.edu 37 1 26672138 26672138 + Silent SNP G A A TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr1:26672138G>A uc001bmd.4 - 1 1161 c.1011C>T c.(1009-1011)tcC>tcT p.S337S NM_001039775 NP_001034864 Q8N1P7 AIM1L_HUMAN Homo sapiens absent in melanoma 1-like (AIM1L), mRNA. 0 Beta/gamma crystallin 'Greek key' 7. sugar binding endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|pancreas(1)|skin(2) 12 all_cancers(24;4.67e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.51e-27)|Colorectal(126;1.61e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000792)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.00858)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.165)|LUSC - Lung squamous cell carcinoma(448;0.239) GGAGCTCAGTGGAACTGGGGG 0.632000 21 3 0 0 0.115264 0 0 VSIG2 23584 broad.mit.edu 37 11 124618311 124618311 + Missense_Mutation SNP C T T TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr11:124618311C>T uc001qas.3 - 5 902 c.826G>A c.(826-828)Gag>Aag p.E276K VSIG2_uc001qat.3_Missense_Mutation_p.E276K NM_014312 NP_055127 Q96IQ7 VSIG2_HUMAN Homo sapiens V-set and immunoglobulin domain containing 2 (VSIG2), mRNA. 276 integral to plasma membrane|membrane fraction central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(5) 19 all_hematologic(175;0.215) Breast(109;0.00663)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0215) CCATATGTCTCCTTGGGCTTC 0.612000 116 20 0 0 0.099896 0 0 MYT1L 23040 broad.mit.edu 37 2 1906872 1906873 + Missense_Mutation DNP GA AT AT TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr2:1906872_1906873GA>AT uc002qxe.3 - 13 2838_2839 c.2011_2012TC>AT c.(2011-2013)tcc>ATc p.S671I MYT1L_uc002qxd.3_Missense_Mutation_p.S669I|MYT1L_uc010ewl.2_Intron NM_015025 NP_055840 Q9UL68 MYT1L_HUMAN Homo sapiens myelin transcription factor 1-like (MYT1L), mRNA. 671 cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 97 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.037)|all_epithelial(98;0.241) OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244) TCCTTTGGGGGATATATCCCTG 0.431000 80 6 0 0 0.115264 0 0 CYP4Z1 199974 broad.mit.edu 37 1 47571882 47571882 + Missense_Mutation SNP C T T TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr1:47571882C>T uc001cqu.1 + 8 1153 c.1150C>T c.(1150-1152)Cgg>Tgg p.R384W NM_178134 NP_835235 Q86W10 CP4Z1_HUMAN Homo sapiens cytochrome P450, family 4, subfamily Z, polypeptide 1 (CYP4Z1), mRNA. 384 endoplasmic reticulum membrane|integral to membrane|microsome aromatase activity|electron carrier activity|heme binding cervix(1)|large_intestine(4)|lung(4)|skin(1)|stomach(1) 11 AAACATATCCCGGTTACTCGA 0.478000 90 16 0 0 0.049695 0 0 TMEM88 92162 broad.mit.edu 37 17 7758414 7758414 + Missense_Mutation SNP C G G TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr17:7758414C>G uc002giy.3 + 0 31 c.22C>G c.(22-24)Cag>Gag p.Q8E CYB5D1_uc002gjb.4_5'Flank NM_203411 NP_981956 Q6PEY1 TMM88_HUMAN Homo sapiens transmembrane protein 88 (TMEM88), mRNA. 8 integral to membrane lung(1) 1 all_cancers(10;0.00528)|Prostate(122;0.202) CCCCGGGGCACAGCGAGCGGT 0.701000 31 5 0 0 0.021553 0 0 MTMR3 8897 broad.mit.edu 37 22 30403950 30403950 + Missense_Mutation SNP T G G TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr22:30403950T>G uc003agv.4 + 10 1266 c.938T>G c.(937-939)tTg>tGg p.L313W MTMR3_uc003agu.4_Missense_Mutation_p.L313W|MTMR3_uc003agw.4_Missense_Mutation_p.L313W NM_021090 NP_066576 Q13615 MTMR3_HUMAN Homo sapiens myotubularin related protein 3 (MTMR3), transcript variant 3, mRNA. 313 Myotubularin phosphatase. phosphatidylinositol dephosphorylation cytoplasm|membrane|membrane fraction|nucleus metal ion binding|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1) 17 OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107) CAGAAGCTTTTGATCTTGGAT 0.517000 37 5 0 0 0.021553 0 0 DNAH8 1769 broad.mit.edu 37 6 38980272 38980272 + Missense_Mutation SNP C T T TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr6:38980272C>T uc021yzh.1 + 90 13682 c.13573C>T c.(13573-13575)Ctc>Ttc p.L4525F DNAH8_uc003ooe.2_Missense_Mutation_p.L4308F NM_001206927 NP_001193856 Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA. NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4) 260 TATACCTCAGCTCTGGAAAAG 0.408000 77 18 0 0 0.049695 0 0 EDC3 80153 broad.mit.edu 37 15 74963798 74963798 + Missense_Mutation SNP G A A TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr15:74963798G>A uc002ayn.3 - 5 970 c.482C>T c.(481-483)tCc>tTc p.S161F EDC3_uc002ayo.3_Missense_Mutation_p.S161F|EDC3_uc002aym.3_Missense_Mutation_p.S161F NM_001142443 NP_079359 Q96F86 EDC3_HUMAN Homo sapiens enhancer of mRNA decapping 3 homolog (S. cerevisiae) (EDC3), transcript variant 1, mRNA. 161 exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay cytoplasmic mRNA processing body|cytosol RNA binding|protein binding breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 16 CTACTTACAGGAGTTGTGCCG 0.458000 78 13 0 0 0.146539 0 0 GFRA3 2676 broad.mit.edu 37 5 137600085 137600086 + Missense_Mutation DNP CC TT TT rs143061950 byFrequency TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr5:137600085_137600086CC>TT uc003lcn.3 - 1 383_384 c.243_244GG>AA c.(241-246)tcggtc>tcAAtc p.V82I GFRA3_uc003lco.3_Missense_Mutation_p.V82I NM_001496 NP_001487 O60609 GFRA3_HUMAN Homo sapiens GDNF family receptor alpha 3 (GFRA3), mRNA. 82 peripheral nervous system development anchored to membrane|cytoplasm|extrinsic to membrane|intracellular membrane-bounded organelle receptor binding central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(1) 12 KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592) TCAGCAGGGACCGAAGGCTCCT 0.604000 53 8 0 0 0.115264 0 0 SLC6A11 6538 broad.mit.edu 37 3 10967784 10967784 + Silent SNP C T T TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr3:10967784C>T uc003bvz.3 + 8 1249 c.1215C>T c.(1213-1215)ttC>ttT p.F405F NM_014229 NP_055044 P48066 S6A11_HUMAN Homo sapiens solute carrier family 6 (neurotransmitter transporter, GABA), member 11 (SLC6A11), mRNA. 405 neurotransmitter secretion integral to plasma membrane gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(13)|ovary(1)|skin(4) 35 OV - Ovarian serous cystadenocarcinoma(96;0.229) TGCTCATCTTCCTGGGCCTGG 0.657000 171 17 0 0 0.043863 0 0 DDX11 1663 broad.mit.edu 37 12 31249577 31249577 + Missense_Mutation SNP G A A TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr12:31249577G>A uc001rjt.1 + 15 1779 c.1528G>A c.(1528-1530)Gga>Aga p.G510R DDX11_uc001rjr.1_Missense_Mutation_p.G510R|DDX11_uc001rjs.1_Missense_Mutation_p.G510R|DDX11_uc001rju.1_Missense_Mutation_p.G188R|DDX11_uc001rjv.1_Missense_Mutation_p.G510R|DDX11_uc001rjw.1_Missense_Mutation_p.G484R|DDX11_uc009zjn.1_Non-coding_Transcript NM_152438 NP_689651 Q96FC9 DDX11_HUMAN Homo sapiens DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 (DDX11), transcript variant 3, mRNA. 510 G2/M transition of mitotic cell cycle|S phase of mitotic cell cycle|interspecies interaction between organisms|mitotic sister chromatid segregation|positive regulation of cell proliferation|sister chromatid cohesion midbody|nuclear chromatin|nucleolus|spindle pole ATP binding|ATP-dependent DNA helicase activity|DNA binding|RNA binding|protein binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 57 all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233) CCAGCTCTTTGGATTCACTGA 0.592000 Multiple Myeloma(12;0.14) 57 9 0 0 0.058154 0 0 AURKAIP1 54998 broad.mit.edu 37 1 1309541 1309541 + Missense_Mutation SNP C T T TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr1:1309541C>T uc001afb.1 - 1 447 c.337G>A c.(337-339)Gag>Aag p.E113K AURKAIP1_uc001afc.2_Missense_Mutation_p.E113K|AURKAIP1_uc009vkb.1_Missense_Mutation_p.E113K|AURKAIP1_uc001afd.2_Missense_Mutation_p.E113K NM_017900 NP_060370 Q9NWT8 AKIP_HUMAN Homo sapiens aurora kinase A interacting protein 1 (AURKAIP1), transcript variant 1, mRNA. 113 negative regulation of mitosis|positive regulation of proteolysis mitochondrion|nucleus protein binding kidney(1)|lung(2) 3 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) Epithelial(90;5.82e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145) TCCCCCTGCTCGGCCCCTTCC 0.627000 114 15 0 0 0.033300 0 0 LATS2 26524 broad.mit.edu 37 13 21562052 21562053 + Missense_Mutation DNP GG AA AA TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr13:21562052_21562053GG>AA uc009zzs.3 - 3 2231_2232 c.1866_1867CC>TT c.(1864-1869)aaccgg>aaTTgg p.R623W LATS2_uc001unr.4_Missense_Mutation_p.R623W NM_014572 NP_055387 Q9NRM7 LATS2_HUMAN Homo sapiens LATS, large tumor suppressor, homolog 2 (Drosophila) (LATS2), mRNA. 623 G1/S transition of mitotic cell cycle|cell division|hippo signaling cascade|hormone-mediated signaling pathway|intracellular protein kinase cascade|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity microtubule organizing center|nucleus|spindle pole ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity breast(4)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(2) 45 all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244) all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104) TGCAGCCTCCGGTTAACCTTCT 0.475000 128 23 0 0 0.115264 0 0 LATS1 9113 broad.mit.edu 37 6 150005366 150005367 + Nonsense_Mutation DNP GG AA AA TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr6:150005366_150005367GG>AA uc003qmu.1 - 3 1406_1407 c.858_859CC>TT c.(856-861)tcccga>tcTTga p.R287* LATS1_uc010kif.1_Nonsense_Mutation_p.R182*|LATS1_uc003qmv.2_Nonsense_Mutation_p.R287*|LATS1_uc003qmw.3_Nonsense_Mutation_p.R287*|LATS1_uc010kig.1_Nonsense_Mutation_p.R182* NM_004690 NP_004681 O95835 LATS1_HUMAN Homo sapiens LATS, large tumor suppressor, homolog 1 (Drosophila) (LATS1), mRNA. 287 G2/M transition of mitotic cell cycle|cell division|cytoplasmic sequestering of protein|hippo signaling cascade|hormone-mediated signaling pathway|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|positive regulation of peptidyl-serine phosphorylation|regulation of actin filament polymerization|sister chromatid segregation microtubule organizing center|spindle pole ATP binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity central_nervous_system(1)|lung(5) 6 Ovarian(120;0.0164) OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116) GGAGAGATTCGGGAGATTACGT 0.530000 120 7 0 0 0.115264 0 0 PPP2R5A 5525 broad.mit.edu 37 1 212533979 212533979 + Splice_Site SNP G C C TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr1:212533979G>C uc001hjb.3 + 13 1903 c.1329_splice c.e13-1 p.R443_splice PPP2R5A_uc010ptd.2_Splice_Site_p.R386_splice NM_006243 NP_006234 Q15172 2A5A_HUMAN Homo sapiens protein phosphatase 2, regulatory subunit B', alpha (PPP2R5A), transcript variant 1, mRNA. 443 negative regulation of establishment of protein localization in plasma membrane|negative regulation of lipid kinase activity|positive regulation of protein dephosphorylation|signal transduction chromosome, centromeric region|cytoplasm|nucleus|protein phosphatase type 2A complex kinase binding|protein phosphatase type 2A regulator activity NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1) 16 OV - Ovarian serous cystadenocarcinoma(81;0.0125)|all cancers(67;0.029)|Epithelial(68;0.154)|GBM - Glioblastoma multiforme(131;0.155) TTTATCTACAGAGAGAAAAAG 0.338000 42 4 0 0 0.021553 0 0 AK098438 0 broad.mit.edu 37 1 21753556 21753556 + RNA SNP C T T TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr1:21753556C>T uc001bep.1 - 1 c.35G>A Homo sapiens cDNA FLJ25572 fis, clone JTH05111. CTTCTTGGTCCTTTTTAATTC 0.468000 81 4 0 0 0.014758 0 0 ZBED2 79413 broad.mit.edu 37 3 111312619 111312619 + Missense_Mutation SNP C T T TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr3:111312619C>T uc003dxy.3 - 1 1331 c.430G>A c.(430-432)Gag>Aag p.E144K CD96_uc003dxv.3_Intron|CD96_uc003dxw.3_Intron|CD96_uc003dxx.3_Intron|CD96_uc010hpy.1_Intron|ZBED2_uc021xci.1_Missense_Mutation_p.E144K NM_024508 NP_078784 Q9BTP6 ZBED2_HUMAN Homo sapiens zinc finger, BED-type containing 2 (ZBED2), mRNA. 144 DNA binding|metal ion binding large_intestine(3)|lung(1)|skin(2) 6 CCCACCTGCTCCAGGAGCCTA 0.627000 61 8 0 0 0.047766 0 0 TMCC2 9911 broad.mit.edu 37 1 205238204 205238205 + Missense_Mutation DNP CT AG AG TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr1:205238204_205238205CT>AG uc021pia.1 + 2 1529_1530 c.874_875CT>AG c.(874-876)ctg>AGg p.L292R TMCC2_uc010prf.2_Missense_Mutation_p.L214R|TMCC2_uc001hca.3_Missense_Mutation_p.L67R|TMCC2_uc001hcb.2_Missense_Mutation_p.L52R|TMCC2_uc001hcc.2_5'UTR|TMCC2_uc001hcd.3_Missense_Mutation_p.L59R NM_014858 NP_001229854 O75069 TMCC2_HUMAN Homo sapiens transmembrane and coiled-coil domain family 2 (TMCC2), transcript variant 1, mRNA. 292 integral to membrane protein binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(3)|pancreas(1)|skin(1)|urinary_tract(1) 20 Breast(84;0.0871) BRCA - Breast invasive adenocarcinoma(75;0.117) CATTGACCACCTGCACCAGAAG 0.634000 35 3 0 0 0.115264 0 0 PTAFR 5724 broad.mit.edu 37 1 28476798 28476798 + Silent SNP G A A rs144798109 byFrequency TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr1:28476798G>A uc009vte.3 - 2 1070 c.735C>T c.(733-735)ttC>ttT p.F245F PTAFR_uc021ojz.1_Silent_p.F245F|PTAFR_uc001bpl.3_Silent_p.F245F|PTAFR_uc001bpm.4_Silent_p.F245F|PTAFR_uc021oka.1_Silent_p.F245F NM_001164721 NP_001158195 P25105 PTAFR_HUMAN Homo sapiens platelet-activating factor receptor (PTAFR), transcript variant 1, mRNA. 245 chemotaxis|inflammatory response|interferon-gamma-mediated signaling pathway|phosphatidylinositol-mediated signaling integral to plasma membrane|nucleus phospholipid binding|platelet activating factor receptor activity NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|stomach(1) 15 Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00715)|all_lung(284;0.00732)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557) UCEC - Uterine corpus endometrioid carcinoma (279;0.215)|OV - Ovarian serous cystadenocarcinoma(117;6e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|STAD - Stomach adenocarcinoma(196;0.00678)|READ - Rectum adenocarcinoma(331;0.0649) GGTGGGGCACGAAGCAGATGA 0.612000 39 11 0 0 0.093190 0 0 PRDM2 7799 broad.mit.edu 37 1 14106220 14106220 + Missense_Mutation SNP C T T TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr1:14106220C>T uc001avi.3 + 7 2786 c.1930C>T c.(1930-1932)Cca>Tca p.P644S PRDM2_uc001avg.3_Intron|PRDM2_uc001avh.3_Missense_Mutation_p.P644S|PRDM2_uc021ogk.1_Missense_Mutation_p.P407S|PRDM2_uc001avk.3_Missense_Mutation_p.P443S|PRDM2_uc009voe.3_Intron|PRDM2_uc009vof.3_Intron NM_012231 NP_036363 Q13029 PRDM2_HUMAN Homo sapiens PR domain containing 2, with ZNF domain (PRDM2), transcript variant 1, mRNA. 644 Golgi apparatus|nucleus DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2) 55 Ovarian(185;0.249) all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255) GBM - Glioblastoma multiforme(2;0.00182) UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145) AACTGCGAGCCCACCTGCACT 0.483000 25 7 0 0 0.029380 0 0 AHNAK 79026 broad.mit.edu 37 11 62298311 62298311 + Missense_Mutation SNP G A A TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr11:62298311G>A uc001ntl.3 - 4 3878 c.3578C>T c.(3577-3579)cCc>cTc p.P1193L AHNAK_uc001ntk.1_Intron NM_001620 NP_001611 Q09666 AHNK_HUMAN Homo sapiens AHNAK nucleoprotein (AHNAK), transcript variant 1, mRNA. 1193 nervous system development nucleus protein binding NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 268 Melanoma(852;0.155) GGAGATCTTGGGGGTCTTGAA 0.512000 317 38 0 0 0.098360 0 0 PIEZO2 63895 broad.mit.edu 37 18 10696234 10696234 + Missense_Mutation SNP G A A TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr18:10696234G>A uc002kos.2 - 42 6863 c.6689C>T c.(6688-6690)cCg>cTg p.P2230L PIEZO2_uc002koq.3_Missense_Mutation_p.P85L NM_022068 NP_071351 Q9H5I5 PIEZ2_HUMAN Homo sapiens piezo-type mechanosensitive ion channel component 2 (PIEZO2), mRNA. 2230 integral to membrane ion channel activity AAACGGCCCCGGGACCTGGTC 0.527000 64 8 0 0 0.058154 0 0 RBBP6 5930 broad.mit.edu 37 16 24578597 24578597 + Missense_Mutation SNP C T T TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr16:24578597C>T uc002dmh.3 + 14 2763 c.1723C>T c.(1723-1725)Cct>Tct p.P575S RBBP6_uc010vcb.1_Missense_Mutation_p.P442S|RBBP6_uc002dmi.3_Missense_Mutation_p.P575S|RBBP6_uc010bxr.3_Intron|RBBP6_uc002dmk.3_Missense_Mutation_p.P442S NM_006910 NP_008841 Q7Z6E9 RBBP6_HUMAN Homo sapiens retinoblastoma binding protein 6 (RBBP6), transcript variant 1, mRNA. 575 protein ubiquitination involved in ubiquitin-dependent protein catabolic process chromosome|nucleolus|ubiquitin ligase complex nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1) 46 GBM - Glioblastoma multiforme(48;0.0518) acttcctctccctccgggtgt 0.577000 177 25 0 0 0.099896 0 0 MYOM3 127294 broad.mit.edu 37 1 24413146 24413146 + Missense_Mutation SNP G A A TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr1:24413146G>A uc001bin.4 - 14 1949 c.1786C>T c.(1786-1788)Cgg>Tgg p.R596W MYOM3_uc001bim.4_Missense_Mutation_p.R253W|MYOM3_uc001bio.3_Missense_Mutation_p.R596W|MYOM3_uc001bip.1_Missense_Mutation_p.R253W NM_152372 NP_689585 Q5VTT5 MYOM3_HUMAN Homo sapiens myomesin family, member 3 (MYOM3), mRNA. 596 NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2) 68 Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153) GGCGGGCCCCGCAAGGCGATG 0.632000 49 3 0 0 0.009096 0 0 MLLT3 4300 broad.mit.edu 37 9 20414379 20414379 + Silent SNP G A A TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr9:20414379G>A uc003zoe.2 - 4 724 c.465C>T c.(463-465)agC>agT p.S155S MLLT3_uc011lne.1_Silent_p.S123S|MLLT3_uc011lnf.1_Silent_p.S152S|MLLT3_uc003zof.3_5'UTR NM_004529 NP_004520 P42568 AF9_HUMAN Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (MLLT3), mRNA. 155 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.S155S(8) central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7) 66 GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05) tgctgctactgctgctgctgc 0.532000 T MLL ALL 34 3 0 0 0.115264 0 0 ALAS2 212 broad.mit.edu 37 X 55051223 55051223 + Nonsense_Mutation SNP G A A TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chrX:55051223G>A uc004dua.4 - 2 370 c.232C>T c.(232-234)Cag>Tag p.Q78* ALAS2_uc004dub.4_Nonsense_Mutation_p.Q102*|ALAS2_uc004dud.4_Nonsense_Mutation_p.Q78* NM_000032 NP_000023 P22557 HEM0_HUMAN Homo sapiens aminolevulinate, delta-, synthase 2 (ALAS2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 78 cellular iron ion homeostasis|erythrocyte differentiation|heme biosynthetic process|hemoglobin biosynthetic process|oxygen homeostasis|response to hypoxia mitochondrial inner membrane|mitochondrial matrix 5-aminolevulinate synthase activity|coenzyme binding|glycine binding|protein binding|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1) 17 Glycine(DB00145) TTCCCATCCTGGAGTTCCGAC 0.488000 51 10 0 0 0.080935 0 0 CARNS1 57571 broad.mit.edu 37 11 67187009 67187009 + Silent SNP C T T TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr11:67187009C>T uc001olc.4 + 3 2132 c.952C>T c.(952-954)Ctg>Ttg p.L318L PPP1CA_uc001okx.1_Silent_p.Q63Q|CARNS1_uc010rpr.2_Silent_p.L302L|CARNS1_uc009yrp.3_Silent_p.L179L NM_020811 NP_065862 A5YM72 CRNS1_HUMAN Homo sapiens carnosine synthase 1 (CARNS1), transcript variant 2, mRNA. 179 carnosine biosynthetic process ATP binding|carnosine synthase activity|metal ion binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7) 11 GGCATGGCGTCTGCACCCGCG 0.672000 13 4 0 0 0.014758 0 0 LENEP 55891 broad.mit.edu 37 1 154966129 154966129 + Missense_Mutation SNP C T T TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr1:154966129C>T uc021pak.1 + 0 46 c.46C>T c.(46-48)Ctc>Ttc p.L16F LENEP_uc001fgi.3_Missense_Mutation_p.L16F NM_018655 NP_061125 Q9Y5L5 LENEP_HUMAN Homo sapiens lens epithelial protein (LENEP), mRNA. 16 multicellular organismal development DNA binding lung(2) 2 all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) BRCA - Breast invasive adenocarcinoma(34;0.00034) ACCCTTCTTCCTCGGAGGGGC 0.612000 84 9 0 0 0.069234 0 0 TIGD3 220359 broad.mit.edu 37 11 65124093 65124093 + Missense_Mutation SNP G A A TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr11:65124093G>A uc021qlj.1 + 0 814 c.814G>A c.(814-816)Gag>Aag p.E272K TIGD3_uc001odo.4_Missense_Mutation_p.E272K NM_145719 NP_663771 Q6B0B8 TIGD3_HUMAN Homo sapiens tigger transposable element derived 3 (TIGD3), mRNA. 272 DDE. regulation of transcription, DNA-dependent chromosome, centromeric region|nucleus DNA binding endometrium(3)|large_intestine(1)|lung(9)|prostate(2)|skin(2) 17 AGTGGTGGAGGAGCTGGCAGG 0.652000 76 14 0 0 0.119110 0 0 ERC2 26059 broad.mit.edu 37 3 55984490 55984490 + Missense_Mutation SNP C T T TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr3:55984490C>T uc021wzo.1 - 11 2506 c.2366G>A c.(2365-2367)cGa>cAa p.R789Q ERC2_uc003dhq.1_Non-coding_Transcript|ERC2_uc003dhr.1_Missense_Mutation_p.R785Q|ERC2_uc003dht.1_Missense_Mutation_p.R268Q NM_015576 NP_056391 O15083 ERC2_HUMAN Homo sapiens ELKS/RAB6-interacting/CAST family member 2 (ERC2), mRNA. 789 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) GCTGTCTTCTCGCCTGCGCAC 0.428000 45 3 0 0 0.115264 0 0 MACF1 23499 broad.mit.edu 37 1 39800890 39800890 + Missense_Mutation SNP C T T TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr1:39800890C>T uc021olw.1 + 0 3950 c.3950C>T c.(3949-3951)tCc>tTc p.S1317F MACF1_uc021ols.1_Intron|MACF1_uc001cdc.2_Intron|MACF1_uc021olt.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc001cdb.1_Intron NM_012090 NP_036222 Q9UPN3 MACF1_HUMAN Homo sapiens microtubule-actin crosslinking factor 1 (MACF1), transcript variant 1, mRNA. 2882 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) AAAGGTAAATCCTTGGGCCAA 0.353000 81 15 0 0 0.038395 0 0 KDM4A 9682 broad.mit.edu 37 1 44134854 44134855 + Missense_Mutation DNP CC TT TT TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr1:44134854_44134855CC>TT uc001cjx.3 + 9 1413_1414 c.1247_1248CC>TT c.(1246-1248)ccc>cTT p.P416L KDM4A_uc010oki.2_Missense_Mutation_p.P416L NM_014663 NP_055478 O75164 KDM4A_HUMAN Homo sapiens lysine (K)-specific demethylase 4A (KDM4A), mRNA. 416 interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent centrosome|nucleolus histone demethylase activity (H3-K36 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(13)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1) 37 GAGCTCTTCCCCAAGGAGGATC 0.579000 126 15 0 0 0.115264 0 0 MCM2 4171 broad.mit.edu 37 3 127325561 127325561 + Silent SNP C T T TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr3:127325561C>T uc003ejp.3 + 5 1059 c.1002C>T c.(1000-1002)ttC>ttT p.F334F MCM2_uc011bkm.2_Silent_p.F204F|MCM2_uc010hsl.3_Non-coding_Transcript|MCM2_uc011bkn.2_Silent_p.F218F NM_004526 NP_004517 P49736 MCM2_HUMAN Homo sapiens minichromosome maintenance complex component 2 (MCM2), mRNA. 334 DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|cell cycle checkpoint MCM complex|chromatin ATP binding|helicase activity|metal ion binding p.F334F(1) ovary(3)|skin(2)|stomach(1) 6 AGTGCAATTTCGTCCTGGGTC 0.592000 112 15 0 0 0.043863 0 0 MMP2 4313 broad.mit.edu 37 16 55523723 55523723 + Silent SNP C T T TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr16:55523723C>T uc002ehz.4 + 6 1478 c.1167C>T c.(1165-1167)ttC>ttT p.F389F MMP2_uc010vhd.2_Silent_p.F313F|MMP2_uc010ccc.3_Silent_p.F339F NM_004530 NP_004521 P08253 MMP2_HUMAN Homo sapiens matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase) (MMP2), transcript variant 1, mRNA. 389 Collagen-binding.|Fibronectin type-II 3. angiogenesis|collagen catabolic process|proteolysis extracellular space|membrane|nucleus|proteinaceous extracellular matrix metalloendopeptidase activity|protein binding|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|liver(2)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 58 Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189) UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786) Marimastat(DB00786)|Sulindac(DB00605) AGTGGGGCTTCTGCCCTGACC 0.572000 13 8 0 0 0.047766 0 0 SKIV2L 6499 broad.mit.edu 37 6 31933652 31933652 + Silent SNP C T T TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr6:31933652C>T uc003nyn.1 + 17 2453 c.2064C>T c.(2062-2064)acC>acT p.T688T SKIV2L_uc011dou.1_Silent_p.T530T|SKIV2L_uc011dov.1_Silent_p.T495T NM_006929 NP_008860 Q15477 SKIV2_HUMAN Homo sapiens superkiller viralicidic activity 2-like (S. cerevisiae) (SKIV2L), mRNA. 688 Helicase C-terminal. nucleus ATP binding|ATP-dependent RNA helicase activity|RNA binding|protein binding breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1) 4 ATGGCTCCACCTTCCGGGACC 0.607000 64 10 0 0 0.080935 0 0 abParts 0 broad.mit.edu 37 2 90121970 90121970 + RNA SNP G A A TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr2:90121970G>A uc010yts.2 + 28 c.3110G>A Parts of antibodies, mostly variable regions. CAGAAACCAGGGAAAGTCCCT 0.512000 126 10 0 0 0.069234 0 0 JPH1 56704 broad.mit.edu 37 8 75157300 75157300 + Missense_Mutation SNP G A A rs138696789 TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr8:75157300G>A uc003yae.3 - 3 1409 c.1369C>T c.(1369-1371)Cgc>Tgc p.R457C JPH1_uc003yaf.3_Missense_Mutation_p.R457C|JPH1_uc003yag.1_Missense_Mutation_p.R321C NM_020647 NP_065698 Q9HDC5 JPH1_HUMAN Homo sapiens junctophilin 1 (JPH1), mRNA. 457 calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity integral to membrane|junctional membrane complex|junctional sarcoplasmic reticulum membrane|plasma membrane endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(2) 24 Breast(64;0.00576) BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176) GTGCCTTTGCGATAAAAATGA 0.493000 94 9 0 0 0.069234 0 0 DSCAML1 57453 broad.mit.edu 37 11 117391953 117391953 + Missense_Mutation SNP C T T TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr11:117391953C>T uc001prh.1 - 5 1287 c.1285G>A c.(1285-1287)Gag>Aag p.E429K DSCAML1_uc001pri.1_Missense_Mutation_p.E233K NM_020693 NP_065744 Q8TD84 DSCL1_HUMAN Homo sapiens Down syndrome cell adhesion molecule like 1 (DSCAML1), mRNA. 369 Ig-like C2-type 5. axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion cell surface|integral to membrane|plasma membrane protein homodimerization activity p.E429*(2) breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 110 all_hematologic(175;0.0487) Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232) BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172) AGCAGCGTCTCGTTGCTGAGC 0.642000 150 19 0 0 0.055883 0 0 OR51S1 119692 broad.mit.edu 37 11 4869718 4869718 + Missense_Mutation SNP G A A rs115882083 byFrequency TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr11:4869718G>A uc010qyo.2 - 0 721 c.721C>T c.(721-723)Cgc>Tgc p.R241C NM_001004758 NP_001004758 Q8NGJ8 O51S1_HUMAN Homo sapiens olfactory receptor, family 51, subfamily S, member 1 (OR51S1), mRNA. 241 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 33 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19) GCCTTCCAGCGATCCTCTCTG 0.522000 61 10 0 0 0.080935 0 0 THBS4 7060 broad.mit.edu 37 5 79351699 79351699 + Silent SNP C T T TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr5:79351699C>T uc021yaw.1 + 2 575 c.384C>T c.(382-384)ctC>ctT p.L128L NM_003248 NP_003239 P35443 TSP4_HUMAN Homo sapiens thrombospondin 4 (THBS4), mRNA. 128 TSP N-terminal. endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation basement membrane|extracellular space calcium ion binding|heparin binding|integrin binding|structural molecule activity breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3) 34 Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261) OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34) ACAGGATCCTCCTGAGGCTGA 0.577000 158 22 0 0 0.076483 0 0 CECR1 51816 broad.mit.edu 37 22 17690466 17690466 + Silent SNP C T T rs113192455 TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr22:17690466C>T uc002zmk.1 - 0 314 c.102G>A c.(100-102)cgG>cgA p.R34R CECR1_uc010gqu.1_Silent_p.R34R|CECR1_uc011agi.1_5'UTR|CECR1_uc011agj.1_5'UTR NM_017424 NP_059120 Q9NZK5 CECR1_HUMAN Homo sapiens cat eye syndrome chromosome region, candidate 1 (CECR1), transcript variant 1, mRNA. 34 Dimerization. adenosine catabolic process|hypoxanthine salvage|inosine biosynthetic process|multicellular organismal development|purine ribonucleoside monophosphate biosynthetic process Golgi apparatus|extracellular space adenosine deaminase activity|adenosine receptor binding|growth factor activity|heparin binding|protein homodimerization activity|proteoglycan binding|zinc ion binding endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|prostate(2)|stomach(1) 25 all_epithelial(15;0.0152)|Lung NSC(13;0.0875)|all_lung(157;0.106) ACAGATGCGCCCGTGTTTCAT 0.552000 46 8 0 0 0.038147 0 0 RBMX 27316 broad.mit.edu 37 X 135956422 135956422 + Missense_Mutation SNP G A A TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chrX:135956422G>A uc004fae.2 - 8 1265 c.1055C>T c.(1054-1056)tCt>tTt p.S352F RBMX_uc011mwf.1_Intron|RBMX_uc004fad.1_3'UTR|RBMX_uc011mwg.2_Missense_Mutation_p.S313F|RBMX_uc004faf.2_Missense_Mutation_p.S213F NM_002139 NP_002130 P38159 HNRPG_HUMAN Homo sapiens RNA binding motif protein, X-linked (RBMX), transcript variant 1, mRNA. 352 catalytic step 2 spliceosome|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm RNA binding|nucleotide binding|protein binding NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|urinary_tract(1) 33 Acute lymphoblastic leukemia(192;0.000127) CCTTTCCATAGAAGGGGGAAG 0.557000 125 4 0 0 0.069288 0 0 SRMS 6725 broad.mit.edu 37 20 62174757 62174757 + Silent SNP C T T TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr20:62174757C>T uc002yfi.1 - 2 596 c.555G>A c.(553-555)cgG>cgA p.R185R NM_080823 NP_543013 Q9H3Y6 SRMS_HUMAN Homo sapiens src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites (SRMS), mRNA. 185 SH2. ATP binding|non-membrane spanning protein tyrosine kinase activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|stomach(1) 19 all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13) Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06) CGGGAAAGAGCCGTCCCTTCT 0.627000 66 11 0 0 0.105934 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A T T rs121913377 TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr7:140453136A>T uc003vwc.4 - 14 1860 c.1799T>A c.(1798-1800)gTg>gAg p.V600E NM_004333 NP_004324 P15056 BRAF_HUMAN Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA. 600 Protein kinase. V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis). activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1) SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2) NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3) 27380 Melanoma(164;0.00956) Sorafenib(DB00398) TCGAGATTTCACTGTAGCTAG 0.368000 V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN) 61 """Mis, T, O""" """AKAP9, KIAA1549""" """melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma""" Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 81 14 0 0 0.146539 0 0 LRRC8A 56262 broad.mit.edu 37 9 131669516 131669516 + Missense_Mutation SNP G A A TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr9:131669516G>A uc004bwl.4 + 2 327 c.73G>A c.(73-75)Gat>Aat p.D25N LRRC8A_uc010myp.3_Missense_Mutation_p.D25N|LRRC8A_uc010myq.3_Missense_Mutation_p.D25N NM_019594 NP_062540 Q8IWT6 LRC8A_HUMAN Homo sapiens leucine rich repeat containing 8 family, member A (LRRC8A), transcript variant 2, mRNA. 25 pre-B cell differentiation integral to membrane breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(3) 28 GCCGTGGTGGGATGTGTTCAC 0.542000 53 7 0 0 0.038147 0 0 SCN10A 6336 broad.mit.edu 37 3 38783809 38783809 + Silent SNP G A A TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr3:38783809G>A uc003ciq.3 - 12 2079 c.2079C>T c.(2077-2079)ttC>ttT p.F693F NM_006514 NP_006505 Q9Y5Y9 SCNAA_HUMAN Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA. 693 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) GCATGGCTTCGAAGGTAGGGC 0.592000 59 5 0 0 0.014758 0 0 SLC34A1 6569 broad.mit.edu 37 5 176821167 176821168 + Missense_Mutation DNP CC TT TT TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr5:176821167_176821168CC>TT uc003mgk.4 + 9 1249_1250 c.1145_1146CC>TT c.(1144-1146)gcc>gTT p.A382V NM_003052 NP_003043 Q06495 NPT2A_HUMAN Homo sapiens solute carrier family 34 (sodium phosphate), member 1 (SLC34A1), transcript variant 1, mRNA. 382 phosphate ion homeostasis|response to cadmium ion|response to lead ion|response to mercury ion|sodium ion transport brush border membrane|integral to plasma membrane protein binding|sodium-dependent phosphate transmembrane transporter activity|symporter activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 24 all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GGCCAAGTGGCCAAGGTCATCC 0.589000 211 33 0 0 0.115264 0 0 C6orf118 168090 broad.mit.edu 37 6 165713883 165713883 + Silent SNP C T T TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr6:165713883C>T uc003qum.4 - 2 882 c.846G>A c.(844-846)ttG>ttA p.L282L C6orf118_uc011egi.1_Non-coding_Transcript NM_144980 NP_659417 Q5T5N4 CF118_HUMAN Homo sapiens chromosome 6 open reading frame 118 (C6orf118), mRNA. 282 breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 40 Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157) OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313) CACCAAATATCAAAGAACTGT 0.403000 114 11 0 0 0.080935 0 0 CNTN3 5067 broad.mit.edu 37 3 74347318 74347318 + Missense_Mutation SNP C T T TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr3:74347318C>T uc003dpm.1 - 16 2271 c.2191G>A c.(2191-2193)Ggt>Agt p.G731S NM_020872 NP_065923 Q9P232 CNTN3_HUMAN Homo sapiens contactin 3 (plasmacytoma associated) (CNTN3), mRNA. 731 Fibronectin type-III 2. cell adhesion anchored to membrane|plasma membrane protein binding NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 83 Lung NSC(201;0.138)|Lung SC(41;0.21) Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01) AAACCTTCACCATTCTGTAGT 0.468000 53 6 0 0 0.038147 0 0 RHAG 6005 broad.mit.edu 37 6 49604464 49604464 + Missense_Mutation SNP C T T TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr6:49604464C>T uc003ozk.4 - 0 124 c.62G>A c.(61-63)gGa>gAa p.G21E RHAG_uc010jzl.3_Missense_Mutation_p.G21E|RHAG_uc010jzm.3_Missense_Mutation_p.G21E NM_000324 NP_000315 Q02094 RHAG_HUMAN Homo sapiens Rh-associated glycoprotein (RHAG), mRNA. 21 carbon dioxide transport|cellular ion homeostasis integral to plasma membrane ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding p.G21G(1) NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 39 Lung NSC(77;0.0255) AACAAATAATCCAAATAAAAC 0.438000 132 18 0 0 0.049695 0 0 DYNC2H1 79659 broad.mit.edu 37 11 103059315 103059315 + Silent SNP A T T TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr11:103059315A>T uc001phn.1 + 43 7374 c.7230A>T c.(7228-7230)ggA>ggT p.G2410G DYNC2H1_uc009yxe.1_Intron|DYNC2H1_uc001pho.2_Silent_p.G2410G NM_001080463 NP_001073932 Q8NCM8 DYHC2_HUMAN Homo sapiens dynein, cytoplasmic 2, heavy chain 1 (DYNC2H1), transcript variant 2, mRNA. 2410 AAA 3 (By similarity). Golgi organization|cell projection organization|microtubule-based movement|multicellular organismal development Golgi apparatus|cilium axoneme|dynein complex|microtubule|plasma membrane ATP binding|ATPase activity|microtubule motor activity NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2) 33 Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348) BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785) CAGCTGGAGGAAGACTGGGAA 0.333000 50 5 0 0 0.014758 0 0 POLN 353497 broad.mit.edu 37 4 2181115 2181115 + Missense_Mutation SNP C T T TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr4:2181115C>T uc003ger.2 - 5 1111 c.1099G>A c.(1099-1101)Gat>Aat p.D367N POLN_uc010ich.1_Intron|POLN_uc011bvi.1_Missense_Mutation_p.D367N NM_181808 NP_861524 Q7Z5Q5 DPOLN_HUMAN Homo sapiens polymerase (DNA directed) nu (POLN), mRNA. 367 DNA repair|DNA replication nucleus DNA binding|DNA-directed DNA polymerase activity kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(2)|skin(4)|urinary_tract(2) 28 OV - Ovarian serous cystadenocarcinoma(23;0.0955) TCTACTAAATCTTCAAAAGAG 0.358000 DNA polymerases (catalytic subunits) 57 5 0 0 0.021553 0 0 HS3ST1 9957 broad.mit.edu 37 4 11401324 11401324 + Nonsense_Mutation SNP C T T TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr4:11401324C>T uc003gmq.3 - 1 629 c.306G>A c.(304-306)tgG>tgA p.W102* HS3ST1_uc021xmg.1_Nonsense_Mutation_p.W102* NM_005114 NP_005105 O14792 HS3S1_HUMAN Homo sapiens heparan sulfate (glucosamine) 3-O-sulfotransferase 1 (HS3ST1), mRNA. 102 Golgi lumen|integral to membrane [heparan sulfate]-glucosamine 3-sulfotransferase 1 activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|skin(3) 15 GGCTGAGGTACCAGCCCAAGC 0.622000 111 12 0 0 0.146539 0 0 CRAMP1L 57585 broad.mit.edu 37 16 1706284 1706284 + Missense_Mutation SNP C T T TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr16:1706284C>T uc010uvh.2 + 8 1526 c.1526C>T c.(1525-1527)cCt>cTt p.P509L CRAMP1L_uc002cmf.3_Intron NM_020825 NP_065876 Q96RY5 CRML_HUMAN Homo sapiens Crm, cramped-like (Drosophila) (CRAMP1L), mRNA. 509 nucleus DNA binding NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1) 22 CCGGACGCTCCTGACAGGCCT 0.697000 9 4 0 0 0.014758 0 0 NRP1 8829 broad.mit.edu 37 10 33469205 33469205 + Silent SNP G A A rs144845322 TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr10:33469205G>A uc001iwx.4 - 16 3094 c.2571C>T c.(2569-2571)atC>atT p.I857I NRP1_uc001iwv.4_Silent_p.I840I|NRP1_uc001iwy.4_Silent_p.I850I|NRP1_uc009xlz.3_Silent_p.I851I|NRP1_uc001iww.4_Silent_p.I669I NM_003873 NP_003864 O14786 NRP1_HUMAN Homo sapiens neuropilin 1 (NRP1), transcript variant 1, mRNA. 857 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) TGGTGATGAGGATGGGGTCTA 0.532000 125 14 0 0 0.099896 0 0 RHOC 389 broad.mit.edu 37 1 113246331 113246331 + Missense_Mutation SNP G A A TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr1:113246331G>A uc001ecp.1 - 2 391 c.91C>T c.(91-93)Ccg>Tcg p.P31S RHOC_uc001ecq.1_Missense_Mutation_p.P31S|RHOC_uc001ecr.1_Missense_Mutation_p.P31S|RHOC_uc009wgk.1_Missense_Mutation_p.P31S NM_001042679 NP_786886 P08134 RHOC_HUMAN Homo sapiens ras homolog gene family, member C (RHOC), transcript variant 3, mRNA. 31 axon guidance|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|plasma membrane GTP binding|GTPase activity|signal transducer activity p.P31P(1) endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1) 9 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) TAGACCTCCGGAAACTGATCC 0.557000 26 5 0 0 0.014758 0 0 USH2A 7399 broad.mit.edu 37 1 215847907 215847907 + Missense_Mutation SNP G A A TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr1:215847907G>A uc001hku.1 - 62 13733 c.13346C>T c.(13345-13347)tCt>tTt p.S4449F NM_206933 NP_996816 O75445 USH2A_HUMAN Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA. 4449 Fibronectin type-III 30. 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) CAATGTTGGAGAGTCCATGTT 0.473000 HNSCC(13;0.011) 56 7 0 0 0.038147 0 0 GRIA4 2893 broad.mit.edu 37 11 105804641 105804641 + Missense_Mutation SNP G A A TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr11:105804641G>A uc001pix.2 + 13 2686 c.2240G>A c.(2239-2241)gGa>gAa p.G747E GRIA4_uc001piw.2_Missense_Mutation_p.G747E|GRIA4_uc010rvm.1_Non-coding_Transcript|GRIA4_uc009yxl.1_Non-coding_Transcript NM_000829 NP_000820 P48058 GRIA4_HUMAN Homo sapiens glutamate receptor, ionotrophic, AMPA 4 (GRIA4), transcript variant 1, mRNA. 747 glutamate signaling pathway|synaptic transmission cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6) 82 Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323) BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899) L-Glutamic Acid(DB00142) AAAGTGGGAGGAAATCTGGAT 0.438000 72 11 0 0 0.093190 0 0 UHRF1BP1L 23074 broad.mit.edu 37 12 100496628 100496628 + Missense_Mutation SNP T A A TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr12:100496628T>A uc001tgq.3 - 3 483 c.254A>T c.(253-255)gAt>gTt p.D85V UHRF1BP1L_uc001tgr.3_Missense_Mutation_p.D85V NM_015054 NP_055869 A0JNW5 UH1BL_HUMAN Homo sapiens UHRF1 binding protein 1-like (UHRF1BP1L), transcript variant 1, mRNA. 85 breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1) 50 TATTACTTTATCCAGGGACTA 0.294000 41 7 0 0 0.029380 0 0 RFX7 64864 broad.mit.edu 37 15 56390316 56390316 + Missense_Mutation SNP A G G TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr15:56390316A>G uc010bfn.3 - 7 1070 c.1070T>C c.(1069-1071)aTt>aCt p.I357T RFX7_uc010ugk.1_Non-coding_Transcript|RFX7_uc002adn.1_Missense_Mutation_p.I171T NM_022841 NP_073752 Q2KHR2 RFX7_HUMAN Homo sapiens regulatory factor X, 7 (RFX7), mRNA. 260 regulation of transcription, DNA-dependent nucleus DNA binding central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 19 AACGATACCAATAGGTTGAGG 0.398000 53 3 0 0 0.115264 0 0 CD33 945 broad.mit.edu 37 19 51728677 51728677 + Missense_Mutation SNP G A A TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr19:51728677G>A uc002pwa.2 + 1 281 c.241G>A c.(241-243)Gaa>Aaa p.E81K CD33_uc010eos.1_Missense_Mutation_p.E81K|CD33_uc010eot.1_Intron|CD33_uc010eou.1_5'Flank NM_001772 NP_001763 P20138 CD33_HUMAN Homo sapiens CD33 molecule (CD33), transcript variant 1, mRNA. 81 Ig-like V-type. cell adhesion|cell-cell signaling|negative regulation of cell proliferation external side of plasma membrane|integral to plasma membrane receptor activity|sugar binding NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(15)|skin(1)|stomach(1) 24 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.000224)|OV - Ovarian serous cystadenocarcinoma(262;0.00468) Gemtuzumab ozogamicin(DB00056) GCTAGATCAAGAAGTACAGGA 0.537000 92 14 0 0 0.119110 0 0 ALMS1 7840 broad.mit.edu 37 2 73675893 73675894 + Missense_Mutation DNP CC TT TT rs140940799 TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr2:73675893_73675894CC>TT uc002sje.1 + 7 2347_2348 c.2236_2237CC>TT c.(2236-2238)cct>TTt p.P746F ALMS1_uc002sjf.1_Missense_Mutation_p.P704F|ALMS1_uc002sjg.3_Missense_Mutation_p.P134F|ALMS1_uc002sjh.1_Missense_Mutation_p.P134F NM_015120 NP_055935 Q8TCU4 ALMS1_HUMAN Homo sapiens Alstrom syndrome 1 (ALMS1), mRNA. 746 34 X 47 AA approximate tandem repeat. G2/M transition of mitotic cell cycle centrosome|cilium|cytosol|microtubule basal body|spindle pole p.P746L(2)|p.T745T(1) 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 TTCAGCCACTCCTGGACCAGCT 0.441000 153 6 0 0 0.115264 0 0 TSHR 7253 broad.mit.edu 37 14 81610190 81610190 + Silent SNP C T T rs146917060 TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr14:81610190C>T uc001xvd.1 + 9 1944 c.1788C>T c.(1786-1788)atC>atT p.I596I NM_000369 NP_000360 P16473 TSHR_HUMAN Homo sapiens thyroid stimulating hormone receptor (TSHR), transcript variant 1, mRNA. 596 cell-cell signaling|positive regulation of cell proliferation integral to plasma membrane protein binding|thyroid-stimulating hormone receptor activity breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(2)|stomach(1)|thyroid(291)|upper_aerodigestive_tract(1) 337 BRCA - Breast invasive adenocarcinoma(234;0.0402) Thyrotropin Alfa(DB00024) CCTTCGTCATCGTCTGCTGCT 0.478000 Mis toxic thyroid adenoma thyroid adenoma Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism 200 32 0 0 0.080422 0 0 PRDM15 63977 broad.mit.edu 37 21 43291606 43291606 + Missense_Mutation SNP G A A TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr21:43291606G>A uc002yzq.1 - 3 649 c.538C>T c.(538-540)Cct>Tct p.P180S PRDM15_uc002yzo.3_Intron|PRDM15_uc002yzp.3_Intron|PRDM15_uc002yzr.1_Intron NM_022115 NP_071398 P57071 PRD15_HUMAN Homo sapiens PR domain containing 15 (PRDM15), transcript variant 1, mRNA. 180 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1) 43 AGCCCACCAGGAGGTAGGGCA 0.582000 82 8 0 0 0.047766 0 0 HMCN1 83872 broad.mit.edu 37 1 185964144 185964144 + Missense_Mutation SNP G A A TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr1:185964144G>A uc001grq.1 + 23 3932 c.3703G>A c.(3703-3705)Gat>Aat p.D1235N NM_031935 NP_114141 Q96RW7 HMCN1_HUMAN Homo sapiens hemicentin 1 (HMCN1), mRNA. 1235 Ig-like C2-type 9. response to stimulus|visual perception basement membrane calcium ion binding NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18) 308 CACGCCCTCAGATGCTGGCAT 0.453000 102 15 0 0 0.146539 0 0 GPI 2821 broad.mit.edu 37 19 34859581 34859581 + Silent SNP C T T TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr19:34859581C>T uc002nvf.3 + 4 663 c.493C>T c.(493-495)Ctg>Ttg p.L165L GPI_uc010xrv.2_Silent_p.L165L|GPI_uc002nvg.2_Silent_p.L126L|GPI_uc010xrw.2_Silent_p.L126L|GPI_uc002nvh.1_3'UTR NM_000175 NP_000166 P06744 G6PI_HUMAN Homo sapiens glucose-6-phosphate isomerase (GPI), transcript variant 2, mRNA. 126 angiogenesis|gluconeogenesis|glycolysis|hemostasis|humoral immune response cytosol|extracellular space|nucleus|plasma membrane cytokine activity|glucose-6-phosphate isomerase activity|growth factor activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 25 Esophageal squamous(110;0.162) CAACAAGGTTCTGGACAAGAT 0.577000 70 6 0 0 0.021553 0 0 OR4A15 81328 broad.mit.edu 37 11 55135721 55135721 + Missense_Mutation SNP C T T TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr11:55135721C>T uc010rif.2 + 0 362 c.362C>T c.(361-363)tCc>tTc p.S121F NM_001005275 NP_001005275 Q8NGL6 O4A15_HUMAN Homo sapiens olfactory receptor, family 4, subfamily A, member 15 (OR4A15), mRNA. 121 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 71 AAGACCATTTCCTTTCAGGGT 0.388000 174 27 0 0 0.134883 0 0 SULT1B1 27284 broad.mit.edu 37 4 70620463 70620463 + Missense_Mutation SNP C T T TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr4:70620463C>T uc003hen.3 - 2 500 c.202G>A c.(202-204)Gaa>Aaa p.E68K NM_014465 NP_055280 O43704 ST1B1_HUMAN Homo sapiens sulfotransferase family, cytosolic, 1B, member 1 (SULT1B1), mRNA. 68 3'-phosphoadenosine 5'-phosphosulfate metabolic process|cellular biogenic amine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|thyroid hormone metabolic process|xenobiotic metabolic process cytosol breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(14)|prostate(1)|upper_aerodigestive_tract(1) 24 TTACATTTTTCAATATCTCCA 0.333000 106 13 0 0 0.105934 0 0 GALNTL6 442117 broad.mit.edu 37 4 173730626 173730626 + Missense_Mutation SNP C G G TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr4:173730626C>G uc003isv.3 + 5 1404 c.668C>G c.(667-669)gCc>gGc p.A223G NM_001034845 NP_001030017 Q49A17 GLTL6_HUMAN Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 6 (GALNTL6), mRNA. 223 Catalytic subdomain A. Golgi membrane|integral to membrane metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(2)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(2) 45 GCATCTATGGCCAGAGGAGAA 0.527000 54 9 0 0 0.058154 0 0 SDHAF2 54949 broad.mit.edu 37 11 61205149 61205149 + Missense_Mutation SNP C T T TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr11:61205149C>T uc001nrt.3 + 1 111 c.89C>T c.(88-90)tCa>tTa p.S30L NM_017841 NP_060311 Q9NX18 SDHF2_HUMAN Homo sapiens succinate dehydrogenase complex assembly factor 2 (SDHAF2), nuclear gene encoding mitochondrial protein, mRNA. 30 mitochondrial electron transport, succinate to ubiquinone|protein-FAD linkage mitochondrion protein binding large_intestine(3)|lung(4)|ovary(2) 9 AGTGTGACATCATTCAGACGC 0.433000 149 16 0 0 0.049695 0 0 PLXNA2 5362 broad.mit.edu 37 1 208257771 208257771 + Missense_Mutation SNP G A A TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr1:208257771G>A uc001hgz.3 - 9 3010 c.2252C>T c.(2251-2253)cCc>cTc p.P751L NM_025179 NP_079455 O75051 PLXA2_HUMAN Homo sapiens plexin A2 (PLXNA2), mRNA. 751 axon guidance integral to membrane|intracellular|plasma membrane NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3) 80 OV - Ovarian serous cystadenocarcinoma(81;0.199) GCGCAGAGCGGGGACCCGGTG 0.602000 85 12 0 0 0.105934 0 0 DNAH10 196385 broad.mit.edu 37 12 124332625 124332625 + Missense_Mutation SNP G A A TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr12:124332625G>A uc001uft.4 + 31 5603 c.5578G>A c.(5578-5580)Gaa>Aaa p.E1860K NM_207437 NP_997320 Q8IVF4 DYH10_HUMAN Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA. 1860 AAA 1 (By similarity). microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346) CAACTGTGGCGAAGGCATGGA 0.572000 89 24 0 0 0.116897 0 0 DENND4A 10260 broad.mit.edu 37 15 66034088 66034088 + Missense_Mutation SNP G A A TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr15:66034088G>A uc002api.3 - 4 981 c.596C>T c.(595-597)tCg>tTg p.S199L DENND4A_uc002aph.3_Missense_Mutation_p.S199L|DENND4A_uc002apj.3_Missense_Mutation_p.S199L|DENND4A_uc010ujj.1_Missense_Mutation_p.S199L NM_001144823 NP_001138295 Q7Z401 MYCPP_HUMAN Homo sapiens DENN/MADD domain containing 4A (DENND4A), transcript variant 1, mRNA. 199 MABP. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 51 CTTTGCCACCGATTTTTTATA 0.308000 76 15 0 0 0.069288 0 0 PDE4C 5143 broad.mit.edu 37 19 18330170 18330170 + Silent SNP A T T TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr19:18330170A>T uc010xqc.2 - 7 1320 c.840T>A c.(838-840)gcT>gcA p.A280A PDE4C_uc002nik.4_Silent_p.A280A|PDE4C_uc002nil.4_Silent_p.A280A|PDE4C_uc002nig.4_Silent_p.A50A|PDE4C_uc002nih.4_Silent_p.A50A|PDE4C_uc010ebk.3_Silent_p.A174A|PDE4C_uc002nii.4_Silent_p.A248A|PDE4C_uc002nif.4_Silent_p.A49A|PDE4C_uc010ebl.3_5'UTR NM_001098819 NP_001092289 Q08493 PDE4C_HUMAN Homo sapiens phosphodiesterase 4C, cAMP-specific (PDE4C), transcript variant 2, mRNA. 280 signal transduction cytosol 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 33 Dyphylline(DB00651) GGGCCTCCTCAGCGGTCACCT 0.652000 45 3 0 0 0.009096 0 0 CIDEA 1149 broad.mit.edu 37 18 12264450 12264450 + Missense_Mutation SNP C T T TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr18:12264450C>T uc002kqt.4 + 2 393 c.328C>T c.(328-330)Ccg>Tcg p.P110S CIDEA_uc002kqu.4_Missense_Mutation_p.P144S|CIDEA_uc010dlc.3_Non-coding_Transcript NM_001279 NP_001270 O60543 CIDEA_HUMAN Homo sapiens cell death-inducing DFFA-like effector a (CIDEA), transcript variant 1, mRNA. 110 CIDE-N. DNA damage response, signal transduction resulting in induction of apoptosis|DNA fragmentation involved in apoptotic nuclear change|lipid metabolic process|lipid storage|negative regulation of apoptosis|negative regulation of cytokine secretion|negative regulation of lipid catabolic process|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of sequestering of triglyceride|temperature homeostasis mitochondrial envelope|nucleus protein homodimerization activity central_nervous_system(1)|endometrium(1)|kidney(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2) 13 GAAGTGGATGCCGGTAAGCAA 0.463000 29 4 0 0 0.014758 0 0 FAAH2 158584 broad.mit.edu 37 X 57458404 57458404 + Silent SNP G A A TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chrX:57458404G>A uc004dvc.3 + 7 1199 c.1050G>A c.(1048-1050)ctG>ctA p.L350L NM_174912 NP_777572 Q6GMR7 FAAH2_HUMAN Homo sapiens fatty acid amide hydrolase 2 (FAAH2), mRNA. 350 integral to membrane carbon-nitrogen ligase activity, with glutamine as amido-N-donor|hydrolase activity endometrium(2)|large_intestine(4)|lung(10)|ovary(3)|upper_aerodigestive_tract(3) 22 ATGTTAAACTGAAGAAAATGA 0.348000 HNSCC(52;0.14) 38 10 0 0 0.080935 0 0 DUSP16 80824 broad.mit.edu 37 12 12629865 12629865 + Missense_Mutation SNP C T T TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr12:12629865C>T uc001rao.2 - 6 2663 c.1900G>A c.(1900-1902)Gag>Aag p.E634K DUSP16_uc001ran.2_Missense_Mutation_p.E486K NM_030640 NP_085143 Q9BY84 DUS16_HUMAN Homo sapiens dual specificity phosphatase 16 (DUSP16), mRNA. 634 MAPK export from nucleus|MAPK phosphatase export from nucleus, leptomycin B sensitive|inactivation of MAPK activity cytoplasmic membrane-bounded vesicle|nucleus MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity endometrium(7)|kidney(2)|large_intestine(6)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(3) 26 Prostate(47;0.0687) BRCA - Breast invasive adenocarcinoma(232;0.0203) ATGATGCTCTCTCCAAATTCC 0.522000 235 35 0 0 0.092188 0 0 LOC440563 440563 broad.mit.edu 37 1 13183461 13183461 + Silent SNP G A A TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr1:13183461G>A uc010obg.2 - 1 655 c.412C>T c.(412-414)Ctg>Ttg p.L138L NM_001136561 NP_001130033 B2RXH8 B2RXH8_HUMAN Homo sapiens heterogeneous nuclear ribonucleoprotein C-like (LOC440563), mRNA. 138 ribonucleoprotein complex nucleic acid binding|nucleotide binding ACTACAGCCAGAGCAATGGGA 0.502000 265 12 0 0 0.093190 0 0 STOX1 219736 broad.mit.edu 37 10 70644563 70644563 + Silent SNP C T T TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr10:70644563C>T uc001jos.2 + 2 1098 c.1011C>T c.(1009-1011)ttC>ttT p.F337F STOX1_uc001joq.3_Silent_p.F227F|STOX1_uc001jor.3_Intron|STOX1_uc009xpy.3_Intron|STOX1_uc021prw.1_Silent_p.F227F NM_001130161 NP_689922 Q6ZVD7 STOX1_HUMAN Homo sapiens storkhead box 1 (STOX1), transcript variant 2, mRNA. 337 cytoplasm|nucleolus DNA binding breast(5)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|prostate(1)|skin(3) 28 CTGCTCAGTTCCCACCTGAAG 0.423000 79 12 0 0 0.132662 0 0 CDX1 1044 broad.mit.edu 37 5 149563090 149563090 + Silent SNP G A A TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr5:149563090G>A uc003lrq.3 + 2 741 c.645G>A c.(643-645)aaG>aaA p.K215K NM_001804 NP_001795 P47902 CDX1_HUMAN Homo sapiens caudal type homeobox 1 (CDX1), mRNA. 215 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|kidney(2)|lung(1)|ovary(1) 5 all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) TGAACAAGAAGAAACAGCAGC 0.627000 34 10 0 0 0.105934 0 0 COG7 91949 broad.mit.edu 37 16 23464251 23464251 + Missense_Mutation SNP C T T TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr16:23464251C>T uc002dlo.3 - 0 262 c.65G>A c.(64-66)aGg>aAg p.R22K NM_153603 NP_705831 P83436 COG7_HUMAN Homo sapiens component of oligomeric golgi complex 7 (COG7), mRNA. 22 intracellular protein transport|protein glycosylation|protein localization in Golgi apparatus|protein stabilization|retrograde vesicle-mediated transport, Golgi to ER Golgi membrane|Golgi transport complex protein binding breast(1)|central_nervous_system(1)|endometrium(7)|large_intestine(9)|liver(1)|lung(7)|urinary_tract(1) 27 GBM - Glioblastoma multiforme(48;0.0401) GGAGCCGGCCCTGAAGGCCGC 0.617000 61 6 0 0 0.021553 0 0 ITGA5 3678 broad.mit.edu 37 12 54797093 54797093 + Nonsense_Mutation SNP G A A TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr12:54797093G>A uc001sga.3 - 17 1860 c.1792C>T c.(1792-1794)Cga>Tga p.R598* NM_002205 NP_002196 P08648 ITA5_HUMAN Homo sapiens integrin, alpha 5 (fibronectin receptor, alpha polypeptide) (ITGA5), mRNA. 598 angiogenesis|axon guidance|blood coagulation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|wound healing, spreading of epidermal cells alphav-beta3 integrin-vitronectin complex|integrin complex|ruffle platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2) 34 AGTTTGTCTCGAAATTCTGAC 0.572000 158 22 0 0 0.076483 0 0 MTO1 25821 broad.mit.edu 37 6 74189658 74189658 + Splice_Site SNP G A A TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr6:74189658G>A uc010kav.3 + 6 1063 c.939_splice c.e6-1 p.R313_splice MTO1_uc003pgy.4_Splice_Site_p.R313_splice|MTO1_uc003pgz.4_Splice_Site_p.R313_splice|MTO1_uc003pha.4_Splice_Site|MTO1_uc003phb.4_Splice_Site_p.R239_splice|MTO1_uc010kaw.1_5'Flank NM_001123226 NP_001116698 Q9Y2Z2 MTO1_HUMAN Homo sapiens mitochondrial translation optimization 1 homolog (S. cerevisiae) (MTO1), nuclear gene encoding mitochondrial protein, transcript variant 3, mRNA. 313 tRNA processing mitochondrion flavin adenine dinucleotide binding breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1) 27 TTCTATTCTAGATACTGTCCC 0.393000 OREG0003887 type=REGULATORY REGION|Gene=MTO1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 52 4 0 0 0.021553 0 0 NPHP1 4867 broad.mit.edu 37 2 110936067 110936067 + Missense_Mutation SNP G A A TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr2:110936067G>A uc002tfn.4 - 3 356 c.262C>T c.(262-264)Ctt>Ttt p.L88F NPHP1_uc002tfm.4_Missense_Mutation_p.L88F|NPHP1_uc002tfl.4_Missense_Mutation_p.L88F|NPHP1_uc002tfo.4_Intron|NPHP1_uc010ywx.2_Missense_Mutation_p.L88F|NPHP1_uc010fjv.1_Missense_Mutation_p.L88F|NPHP1_uc021vme.1_Missense_Mutation_p.L88F NM_207181 NP_997064 O15259 NPHP1_HUMAN Homo sapiens nephronophthisis 1 (juvenile) (NPHP1), transcript variant 2, mRNA. 88 actin cytoskeleton organization|cell projection organization|cell-cell adhesion|excretion|retina development in camera-type eye|signal transduction|spermatid differentiation|visual behavior adherens junction|cell-cell junction|cilium axoneme|cytoplasm|cytoskeleton|motile cilium|photoreceptor connecting cilium protein binding|structural molecule activity autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(2) 24 TTGTCCAAAAGAGTATGCTCC 0.358000 62 6 0 0 0.029380 0 0 PNMAL2 57469 broad.mit.edu 37 19 46998437 46998438 + Missense_Mutation DNP GG AA AA TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr19:46998437_46998438GG>AA uc002pes.2 - 0 732_733 c.285_286CC>TT c.(283-288)gaccgt>gaTTgt p.R96C LOC100506012_uc021uwg.1_Intron|BC132841_uc002peu.1_Missense_Mutation_p.R183Q NM_020709 NP_065760 Q9ULN7 PNML2_HUMAN Homo sapiens PNMA-like 2 (PNMAL2), mRNA. 96 central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(4) 8 Ovarian(192;0.00965)|all_neural(266;0.0459) OV - Ovarian serous cystadenocarcinoma(262;0.000322)|all cancers(93;0.00233)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427) TCCTGCGCACGGTCCTTCCACA 0.678000 174 25 0 0 0.115264 0 0 HECTD3 79654 broad.mit.edu 37 1 45475072 45475073 + Missense_Mutation DNP GG TA TA TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr1:45475072_45475073GG>TA uc009vxk.3 - 5 1055_1056 c.957_958CC>TA c.(955-960)aacctg>aaTAtg p.L320M HECTD3_uc001cmy.4_5'Flank|HECTD3_uc010olh.2_Missense_Mutation_p.L36M|UROD_uc010oli.2_5'Flank|UROD_uc001cna.2_5'Flank|UROD_uc001cnb.2_5'Flank NM_024602 NP_078878 Q5T447 HECD3_HUMAN Homo sapiens HECT domain containing 3 (HECTD3), mRNA. 320 DOC. proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process perinuclear region of cytoplasm ubiquitin-protein ligase activity breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|stomach(1) 28 Acute lymphoblastic leukemia(166;0.155) AGCTTCTTCAGGTTGTCCCCTT 0.540000 248 35 0 0 0.115264 0 0 PTCHD2 57540 broad.mit.edu 37 1 11577549 11577549 + Silent SNP C T T TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr1:11577549C>T uc001ash.4 + 6 1917 c.1779C>T c.(1777-1779)ttC>ttT p.F593F PTCHD2_uc001asi.1_Silent_p.F593F NM_020780 NP_065831 Q9P2K9 PTHD2_HUMAN Homo sapiens patched domain containing 2 (PTCHD2), mRNA. 593 SSD. 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) TTGGCCTGTTCATGTCTCTCA 0.617000 130 15 0 0 0.038395 0 0 CD93 22918 broad.mit.edu 37 20 23066584 23066584 + Silent SNP C T T TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr20:23066584C>T uc002wsv.3 - 0 394 c.246G>A c.(244-246)cgG>cgA p.R82R NM_012072 NP_036204 Q9NPY3 C1QR1_HUMAN Homo sapiens CD93 molecule (CD93), mRNA. 82 C-type lectin. cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis plasma membrane calcium ion binding|complement component C1q binding|receptor activity|sugar binding p.R82W(1) NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118) GGGCTGCCTCCCGCCTCAGGA 0.637000 12 5 0 0 0.021553 0 0 ADAD2 161931 broad.mit.edu 37 16 84229942 84229942 + Missense_Mutation SNP G A A TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr16:84229942G>A uc002fhq.2 + 8 1852 c.1738G>A c.(1738-1740)Gtt>Att p.V580I ADAD2_uc002fhr.2_Missense_Mutation_p.V498I|AK123582_uc002fhs.1_Intron NM_139174 NP_631913 Q8NCV1 ADAD2_HUMAN Homo sapiens adenosine deaminase domain containing 2 (ADAD2), transcript variant 1, mRNA. 498 A to I editase. RNA processing intracellular adenosine deaminase activity|double-stranded RNA binding NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|skin(1) 13 TGGCATCGAGGTTGTGGATGT 0.677000 48 5 0 0 0.029380 0 0 PTPRC 5788 broad.mit.edu 37 1 198691544 198691545 + Splice_Site DNP GG AA AA TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr1:198691544_198691545GG>AA uc001gur.1 + 15 1834 c.1654_splice c.e15-1 p.A552_splice PTPRC_uc001gut.1_Splice_Site_p.A391_splice|PTPRC_uc009wzf.1_Splice_Site_p.A440_splice|PTPRC_uc021pgy.1_Splice_Site_p.A506_splice|PTPRC_uc010ppg.1_Splice_Site_p.A488_splice NM_002838 NP_002829 P08575 PTPRC_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, C (PTPRC), transcript variant 1, mRNA. 552 Fibronectin type-III 2. B cell proliferation|B cell receptor signaling pathway|T cell differentiation|T cell receptor signaling pathway|axon guidance|defense response to virus|immunoglobulin biosynthetic process|negative regulation of T cell mediated cytotoxicity|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|positive regulation of B cell proliferation|positive regulation of T cell proliferation|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of protein kinase activity|regulation of S phase|release of sequestered calcium ion into cytosol focal adhesion|integral to plasma membrane|membrane raft protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3) 111 CTGAAATTCAGGCCTATTTTCA 0.228000 126 13 0 0 0.115264 0 0 BOD1L1 259282 broad.mit.edu 37 4 13603494 13603494 + Missense_Mutation SNP G A A TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr4:13603494G>A uc003gmz.1 - 9 5147 c.5030C>T c.(5029-5031)aCt>aTt p.T1677I BOD1L1_uc010idr.1_Missense_Mutation_p.T1014I NM_148894 NP_683692 Q8NFC6 BOD1L_HUMAN Homo sapiens biorientation of chromosomes in cell division 1-like (BOD1L), mRNA. 1677 DNA binding AAAAGTAATAGTTCCTTCAAC 0.413000 230 7 0 0 0.047766 0 0 PIGG 54872 broad.mit.edu 37 4 517460 517460 + Silent SNP C T T TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr4:517460C>T uc003gak.4 + 8 1963 c.1827C>T c.(1825-1827)ctC>ctT p.L609L PIGG_uc003gaj.4_Silent_p.L601L|PIGG_uc011bux.2_Non-coding_Transcript|PIGG_uc010ibf.3_Silent_p.L476L|PIGG_uc003gal.4_Silent_p.L520L NM_001127178 NP_001120650 Q5H8A4 PIGG_HUMAN Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class G (PIGG), transcript variant 1, mRNA. 609 C-terminal protein lipidation|preassembly of GPI anchor in ER membrane endoplasmic reticulum membrane|integral to membrane CP2 mannose-ethanolamine phosphotransferase activity breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 39 CGTGTGGCCTCTGTGTGGAAC 0.582000 78 7 0 0 0.047766 0 0 abParts 0 broad.mit.edu 37 2 89976458 89976458 + RNA SNP T C C TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr2:89976458T>C uc010yts.2 + 10 c.1755T>C Parts of antibodies, mostly variable regions. GATGTTGGGGTTTATTACTGC 0.557000 106 5 0 0 0.021553 0 0 APOB 338 broad.mit.edu 37 2 21251284 21251284 + Missense_Mutation SNP G A A TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr2:21251284G>A uc002red.3 - 12 1872 c.1744C>T c.(1744-1746)Cca>Tca p.P582S NM_000384 NP_000375 P04114 APOB_HUMAN Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA. 582 Vitellogenin. cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6) 305 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) TGTTCCCATGGTAGAATTTGG 0.413000 87 7 0 0 0.038147 0 0 VARS 7407 broad.mit.edu 37 6 31760888 31760888 + Missense_Mutation SNP C T T TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr6:31760888C>T uc003nxe.3 - 2 820 c.397G>A c.(397-399)Ggg>Agg p.G133R VARS_uc011doi.1_Intron NM_006295 NP_006286 P26640 SYVC_HUMAN Homo sapiens valyl-tRNA synthetase (VARS), nuclear gene encoding mitochondrial protein, mRNA. 133 GST C-terminal. 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) CCCAGGGCCCCCAGCACAGCC 0.662000 38 5 0 0 0.029380 0 0 LOC441666 441666 broad.mit.edu 37 10 42832122 42832122 + RNA SNP C T T TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr10:42832122C>T uc010qey.2 - 2 c.1853G>A Homo sapiens zinc finger protein 91 pseudogene (LOC441666), non-coding RNA. CAGTAAAAGGCTTTGCCACAT 0.348000 12 3 0 0 0.009096 0 0 PRPF18 8559 broad.mit.edu 37 10 13642301 13642301 + Missense_Mutation SNP C T T TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr10:13642301C>T uc001imp.3 + 2 350 c.202C>T c.(202-204)Ctt>Ttt p.L68F PRPF18_uc001imq.3_Intron NM_003675 NP_003666 Q99633 PRP18_HUMAN Homo sapiens PRP18 pre-mRNA processing factor 18 homolog (S. cerevisiae) (PRPF18), mRNA. 68 RNA splicing|mRNA processing nuclear speck|spliceosomal complex p.L68R(1) central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(5)|prostate(1) 17 AGTGTTAGAACTTGAACTGGC 0.353000 57 13 0 0 0.038395 0 0 DCLRE1B 64858 broad.mit.edu 37 1 114454684 114454684 + Silent SNP C T T TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr1:114454684C>T uc001eeg.3 + 3 1764 c.1470C>T c.(1468-1470)acC>acT p.T490T DCLRE1B_uc001eeh.3_Intron|DCLRE1B_uc001eei.3_Silent_p.T364T NM_022836 NP_073747 Q9H816 DCR1B_HUMAN Homo sapiens DNA cross-link repair 1B (DCLRE1B), mRNA. 490 DNA repair|cell cycle checkpoint|protection from non-homologous end joining at telomere|telomeric 3' overhang formation|telomeric loop formation centrosome|chromosome, telomeric region|nucleus 5'-3' exonuclease activity|protein binding breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(6)|stomach(1) 18 Lung SC(450;0.184) all_cancers(81;1.46e-05)|all_epithelial(167;2.42e-05)|all_lung(203;0.000353)|Lung NSC(69;0.000518) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) GCAAGGGCACCCCTCTTCTAG 0.527000 Other identified genes with known or suspected DNA repair function 111 11 0 0 0.080935 0 0 PRUNE2 158471 broad.mit.edu 37 9 79465513 79465513 + Silent SNP G C C TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr9:79465513G>C uc010mpk.3 - 2 334 c.210C>G c.(208-210)acC>acG p.T70T PRUNE2_uc022bih.1_Intron|PRUNE2_uc004akn.3_Silent_p.T70T NM_015225 NP_056040 Q8WUY3 PRUN2_HUMAN Homo sapiens prune homolog 2 (Drosophila) (PRUNE2), mRNA. 70 G1 phase|apoptosis|induction of apoptosis cytoplasm metal ion binding|pyrophosphatase activity endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1) 16 ACCTCGTCTCGGTGAAGTAGT 0.388000 180 19 0 0 0.055883 0 0 DLC1 10395 broad.mit.edu 37 8 12943340 12943340 + Missense_Mutation SNP T C C TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr8:12943340T>C uc003wwm.2 - 17 5011 c.4567A>G c.(4567-4569)Aaa>Gaa p.K1523E DLC1_uc003wwk.1_Missense_Mutation_p.K1086E|DLC1_uc003wwl.1_Missense_Mutation_p.K1120E|DLC1_uc011kxx.1_Missense_Mutation_p.K1012E NM_182643 NP_872584 Q96QB1 RHG07_HUMAN Homo sapiens deleted in liver cancer 1 (DLC1), transcript variant 1, mRNA. 1523 actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of Rho protein signal transduction|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction caveola|cytosol|focal adhesion|nucleus Rho GTPase activator activity|SH2 domain binding NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 110 TTGGTGTCTTTGGTTTCAGTG 0.453000 95 17 0 0 0.043863 0 0 SORCS3 22986 broad.mit.edu 37 10 106849577 106849577 + Missense_Mutation SNP A C C TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr10:106849577A>C uc001kyi.1 + 5 1300 c.1073A>C c.(1072-1074)gAg>gCg p.E358A NM_014978 NP_055793 Q9UPU3 SORC3_HUMAN Homo sapiens sortilin-related VPS10 domain containing receptor 3 (SORCS3), mRNA. 358 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) GTGCACATGGAGGTGCGGACC 0.557000 47 10 0 0 0.119110 0 0 C2orf53 339779 broad.mit.edu 37 2 27360598 27360598 + Silent SNP C T T TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr2:27360598C>T uc002rjb.2 - 2 1180 c.600G>A c.(598-600)aaG>aaA p.K200K C2orf53_uc021vfb.1_Silent_p.K200K NM_178553 NP_848648 Q53SZ7 CB053_HUMAN Homo sapiens chromosome 2 open reading frame 53 (C2orf53), mRNA. 200 cervix(1)|endometrium(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 20 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GTGCAGGATCCTTCTCGCTTG 0.647000 36 4 0 0 0.009096 0 0 PENK 5179 broad.mit.edu 37 8 57353922 57353922 + Missense_Mutation SNP G A A TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr8:57353922G>A uc003xsz.2 - 1 794 c.713C>T c.(712-714)gCc>gTc p.A238V PENK_uc003xta.3_Missense_Mutation_p.A238V NM_006211 NP_006202 P01210 PENK_HUMAN Homo sapiens proenkephalin (PENK), transcript variant 2, mRNA. 238 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) CAGAGCCTCGGCAAAGCGCTT 0.478000 96 5 0 0 0.014758 0 0 PKNOX2 63876 broad.mit.edu 37 11 125300032 125300032 + Missense_Mutation SNP C T T TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr11:125300032C>T uc001qbu.3 + 11 1501 c.1187C>T c.(1186-1188)cCc>cTc p.P396L PKNOX2_uc010saz.2_Missense_Mutation_p.P367L|PKNOX2_uc010sba.2_Missense_Mutation_p.P367L|PKNOX2_uc010sbb.2_Missense_Mutation_p.P332L|PKNOX2_uc001qbv.3_Missense_Mutation_p.P161L NM_022062 NP_071345 Q96KN3 PKNX2_HUMAN Homo sapiens PBX/knotted 1 homeobox 2 (PKNOX2), mRNA. 396 nucleus sequence-specific DNA binding transcription factor activity p.P396T(2) endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(14)|ovary(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 29 Breast(109;0.00234)|all_lung(97;0.0191)|Lung NSC(97;0.0196)|Medulloblastoma(222;0.0447)|all_neural(223;0.116) BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.117) GGGACAAACCCCGATGGTAAG 0.602000 36 4 0 0 0.009096 0 0 STOML2 30968 broad.mit.edu 37 9 35101910 35101910 + Silent SNP G A A TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr9:35101910G>A uc003zwi.3 - 3 396 c.333C>T c.(331-333)gaC>gaT p.D111D STOML2_uc011lou.2_Silent_p.D111D NM_013442 NP_038470 Q9UJZ1 STML2_HUMAN Homo sapiens stomatin (EPB72)-like 2 (STOML2), mRNA. 111 cytoskeleton receptor binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|prostate(1) 16 LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778) CCTTGTAAGGGTCCATGATGC 0.483000 60 25 0 0 0.125774 0 0 BRD3 8019 broad.mit.edu 37 9 136913572 136913572 + Missense_Mutation SNP T C C TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr9:136913572T>C uc004cew.3 - 5 907 c.719A>G c.(718-720)aAg>aGg p.K240R BRD3_uc004cex.2_Missense_Mutation_p.K240R NM_007371 NP_031397 Q15059 BRD3_HUMAN Homo sapiens bromodomain containing 3 (BRD3), mRNA. 240 nucleus protein binding BRD3/C15orf55(3) kidney(1)|skin(1)|stomach(4) 6 OV - Ovarian serous cystadenocarcinoma(145;1.43e-08)|Epithelial(140;8.41e-08)|all cancers(34;5.21e-07) CTTCACGCCCTTTTTCTGCGA 0.632000 T C15orf55 lethal midline carcinoma of young people 122 3 0 0 0.115264 0 0 MAGEA8 4107 broad.mit.edu 37 X 149013704 149013704 + Missense_Mutation SNP C T T TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chrX:149013704C>T uc022cgq.1 + 0 658 c.658C>T c.(658-660)Ccg>Tcg p.P220S MAGEA8_uc022cgo.1_Missense_Mutation_p.P220S|MAGEA8_uc004fdw.2_Missense_Mutation_p.P220S|MAGEA8_uc022cgp.1_Missense_Mutation_p.P220S NM_005364 NP_005355 P43361 MAGA8_HUMAN Homo sapiens melanoma antigen family A, 8 (MAGEA8), transcript variant 3, mRNA. 220 MAGE. NS(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(12)|upper_aerodigestive_tract(1) 20 Acute lymphoblastic leukemia(192;6.56e-05) CAGCCGCGCCCCGGAGGAGGC 0.572000 41 16 0 0 0.038395 0 0 SLC25A33 84275 broad.mit.edu 37 1 9640068 9640069 + Missense_Mutation DNP CC GT GT TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr1:9640068_9640069CC>GT uc001apw.3 + 5 762_763 c.539_540CC>GT c.(538-540)acc>aGT p.T180S NM_032315 NP_115691 Q9BSK2 S2533_HUMAN Homo sapiens solute carrier family 25, member 33 (SLC25A33), nuclear gene encoding mitochondrial protein, mRNA. 180 transport integral to membrane|mitochondrial inner membrane endometrium(2)|kidney(1)|lung(4)|prostate(1)|skin(1) 9 all_lung(157;0.246) all_epithelial(116;1.16e-18)|all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Breast(348;0.00191)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.01e-08)|COAD - Colon adenocarcinoma(227;1.44e-05)|Kidney(185;0.000262)|KIRC - Kidney renal clear cell carcinoma(229;0.000957)|BRCA - Breast invasive adenocarcinoma(304;0.0019)|STAD - Stomach adenocarcinoma(132;0.00355)|READ - Rectum adenocarcinoma(331;0.0419) GTTTACCAGACCGAAGGCATTC 0.416000 33 6 0 0 0.115264 0 0 NAIP 4671 broad.mit.edu 37 5 69405826 69405827 + Missense_Mutation DNP CC GT GT TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr5:69405826_69405827CC>GT uc003jyj.1 - 0 1684_1685 c.418_419GG>AC c.(418-420)gga>ACa p.G140T SMA4_uc003jxm.3_Intron|SMA4_uc003jxp.3_Intron|SMA4_uc011crh.2_Intron|SMA4_uc011crl.1_Intron|DQ570835_uc021xzz.1_Non-coding_Transcript NM_022892 NP_075043 Q13075 BIRC1_HUMAN Homo sapiens NLR family, apoptosis inhibitory protein (NAIP), transcript variant 2, mRNA. 528 anti-apoptosis|apoptosis|nervous system development basolateral plasma membrane|cytoplasm caspase inhibitor activity|metal ion binding|nucleoside-triphosphatase activity|nucleotide binding central_nervous_system(1) 1 Lung NSC(167;4.15e-05)|Prostate(74;0.00996)|Ovarian(174;0.0448)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;3.04e-60)|Epithelial(20;7.09e-58)|all cancers(19;1.13e-53)|Lung(70;0.0174) AGTAACAGATCCTTCTTTCTCT 0.431000 215 11 0 0 0.115264 0 0 OR8D4 338662 broad.mit.edu 37 11 123777236 123777236 + Missense_Mutation SNP G A A TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr11:123777236G>A uc010saa.2 + 0 98 c.98G>A c.(97-99)gGa>gAa p.G33E NM_001005197 NP_001005197 Q8NGM9 OR8D4_HUMAN Homo sapiens olfactory receptor, family 8, subfamily D, member 4 (OR8D4), mRNA. 33 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(1)|lung(16)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 25 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.93e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0409) CTCTTCTTAGGAATTTACACA 0.423000 89 21 0 0 0.069288 0 0 ELOVL7 79993 broad.mit.edu 37 5 60067810 60067810 + Missense_Mutation SNP G A A TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr5:60067810G>A uc003jsi.4 - 3 375 c.175C>T c.(175-177)Cgc>Tgc p.R59C ELOVL7_uc011cqo.2_5'UTR|ELOVL7_uc010iwk.3_Missense_Mutation_p.R59C|ELOVL7_uc003jsj.4_Missense_Mutation_p.R46C NM_024930 NP_079206 A1L3X0 ELOV7_HUMAN Homo sapiens ELOVL fatty acid elongase 7 (ELOVL7), transcript variant 1, mRNA. 59 fatty acid elongation, polyunsaturated fatty acid|fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process endoplasmic reticulum membrane|integral to membrane fatty acid elongase activity|protein binding endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(1) 9 Lung NSC(810;2.56e-06)|Prostate(74;0.0115)|Breast(144;0.0244)|Ovarian(174;0.0481) AAGGGCTTGCGATTTTCCATG 0.413000 39 4 0 0 0.009096 0 0 GPR98 84059 broad.mit.edu 37 5 89970018 89970018 + Missense_Mutation SNP G A A TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr5:89970018G>A uc003kju.3 + 22 5173 c.5077G>A c.(5077-5079)Gat>Aat p.D1693N GPR98_uc003kjt.3_5'UTR|GPR98_uc010jba.2_Non-coding_Transcript NM_032119 NP_115495 Q8WXG9 GPR98_HUMAN Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA. 1693 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) GGAAACGACTGATATCACCAT 0.428000 19 3 0 0 0.009096 0 0 ZNF536 9745 broad.mit.edu 37 19 30935385 30935385 + Missense_Mutation SNP G A A TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr19:30935385G>A uc002nsu.1 + 1 1054 c.916G>A c.(916-918)Gac>Aac p.D306N ZNF536_uc010edd.1_Missense_Mutation_p.D306N NM_014717 NP_055532 O15090 ZN536_HUMAN Homo sapiens zinc finger protein 536 (ZNF536), mRNA. 306 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 182 Esophageal squamous(110;0.0834) CACGTTGTGCGACTTCGCGGC 0.642000 112 10 0 0 0.093190 0 0 RNF26 79102 broad.mit.edu 37 11 119206803 119206803 + Missense_Mutation SNP G A A TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr11:119206803G>A uc001pwh.3 + 0 1594 c.971G>A c.(970-972)aGa>aAa p.R324K NM_032015 NP_114404 Q9BY78 RNF26_HUMAN Homo sapiens ring finger protein 26 (RNF26), mRNA. 324 zinc ion binding cervix(1)|endometrium(1)|kidney(1)|lung(7)|ovary(1)|prostate(1) 12 Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;3.8e-05) AGGACCCGGAGACAGGACACT 0.622000 56 5 0 0 0.014758 0 0 COL3A1 1281 broad.mit.edu 37 2 189858774 189858774 + Missense_Mutation SNP G A A TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr2:189858774G>A uc002uqj.1 + 16 1277 c.1160G>A c.(1159-1161)gGg>gAg p.G387E COL3A1_uc010frw.1_Non-coding_Transcript|MIR3606_uc021vtx.1_5'Flank NM_000090 NP_000081 P02461 CO3A1_HUMAN Homo sapiens collagen, type III, alpha 1 (COL3A1), mRNA. 387 Triple-helical region. 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) GGCCCTCCTGGGATTAATGGT 0.373000 42 5 0 0 0.029380 0 0 TBPL2 387332 broad.mit.edu 37 14 55903709 55903709 + Missense_Mutation SNP G C C TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr14:55903709G>C uc001xby.3 - 1 178 c.178C>G c.(178-180)Ctg>Gtg p.L60V NM_199047 NP_950248 Q6SJ96 TBPL2_HUMAN Homo sapiens TATA box binding protein like 2 (TBPL2), mRNA. 60 multicellular organismal development|transcription initiation from RNA polymerase II promoter cytoplasm|nucleus DNA binding endometrium(2)|kidney(1)|large_intestine(1)|lung(4) 8 GGGCTGAACAGGGGAGACCTG 0.453000 104 17 0 0 0.091800 0 0 HTR3B 9177 broad.mit.edu 37 11 113816831 113816831 + Missense_Mutation SNP C T T TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr11:113816831C>T uc001pok.3 + 8 1436 c.1298C>T c.(1297-1299)tCc>tTc p.S433F HTR3B_uc001pol.3_Missense_Mutation_p.S422F NM_006028 NP_006019 O95264 5HT3B_HUMAN Homo sapiens 5-hydroxytryptamine (serotonin) receptor 3B (HTR3B), mRNA. 433 synaptic transmission integral to plasma membrane|postsynaptic membrane serotonin receptor activity|serotonin-activated cation-selective channel activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(11) 20 all_cancers(61;6.81e-18)|all_epithelial(67;6.67e-11)|all_hematologic(158;4.67e-05)|Melanoma(852;0.000316)|Acute lymphoblastic leukemia(157;0.000976)|Breast(348;0.0101)|Prostate(24;0.0154)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425) BRCA - Breast invasive adenocarcinoma(274;3.04e-06)|Epithelial(105;1.98e-05)|all cancers(92;0.000201)|OV - Ovarian serous cystadenocarcinoma(223;0.151) ACTCTGTGCTCCCTCTGGGCA 0.532000 104 13 0 0 0.119110 0 0 SRRM2 23524 broad.mit.edu 37 16 2815745 2815745 + Missense_Mutation SNP C T T TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr16:2815745C>T uc002crk.3 + 10 5765 c.5216C>T c.(5215-5217)tCg>tTg p.S1739L SRRM2_uc002crj.1_Missense_Mutation_p.S1643L|SRRM2_uc002crl.1_Missense_Mutation_p.S1739L|SRRM2_uc010bsu.1_Missense_Mutation_p.S1643L NM_016333 NP_057417 Q9UQ35 SRRM2_HUMAN Homo sapiens serine/arginine repetitive matrix 2 (SRRM2), mRNA. 1739 Arg-rich.|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 GCCGAAAAATCGAGGTCTTCA 0.597000 31 4 0 0 0.009096 0 0 PCDHB7 56129 broad.mit.edu 37 5 140552480 140552480 + Missense_Mutation SNP G A A TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr5:140552480G>A uc003lit.3 + 0 238 c.64G>A c.(64-66)Gga>Aga p.G22R NM_018940 NP_061763 Q9Y5E2 PCDB7_HUMAN Homo sapiens protocadherin beta 7 (PCDHB7), mRNA. 22 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) TGTATTTCTGGGAATGTCTTG 0.483000 95 9 0 0 0.080935 0 0 CENPF 1063 broad.mit.edu 37 1 214815371 214815371 + Silent SNP G A A TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr1:214815371G>A uc001hkm.3 + 11 3864 c.3690G>A c.(3688-3690)gaG>gaA p.E1230E NM_016343 NP_057427 P49454 CENPF_HUMAN Homo sapiens centromere protein F, 350/400kDa (mitosin) (CENPF), mRNA. 1306 DNA replication|G2 phase of mitotic cell cycle|cell differentiation|cell division|cell proliferation|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1) 126 all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833) GTGAGAAGGAGAAGGAGTGCC 0.368000 49 7 0 0 0.047766 0 0 SEC24A 10802 broad.mit.edu 37 5 133996932 133996932 + Missense_Mutation SNP C T T TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr5:133996932C>T uc003kzs.3 + 1 513 c.221C>T c.(220-222)tCt>tTt p.S74F SEC24A_uc021ydr.1_Missense_Mutation_p.S74F|SEC24A_uc011cxu.2_5'UTR NM_021982 NP_068817 O95486 SC24A_HUMAN Homo sapiens SEC24 family, member A (S. cerevisiae) (SEC24A), transcript variant 1, mRNA. 74 COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine COPII vesicle coat|Golgi membrane|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm zinc ion binding NS(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 36 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) TCTGGACAGTCTAACTATGGT 0.493000 173 23 0 0 0.076483 0 0 MYO3A 53904 broad.mit.edu 37 10 26490227 26490227 + Missense_Mutation SNP A G G TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr10:26490227A>G uc001isn.2 + 32 4939 c.4579A>G c.(4579-4581)Aaa>Gaa p.K1527E MYO3A_uc009xkp.1_Non-coding_Transcript|MYO3A_uc009xkq.1_Intron NM_017433 NP_059129 Q8NEV4 MYO3A_HUMAN Homo sapiens myosin IIIA (MYO3A), mRNA. 1527 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 AAGACCAAGGAAAGACAGGTA 0.249000 16 3 0 0 0.009096 0 0 ERN2 10595 broad.mit.edu 37 16 23718381 23718381 + Missense_Mutation SNP G A A TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr16:23718381G>A uc002dma.4 - 4 639 c.470C>T c.(469-471)cCt>cTt p.P157L ERN2_uc010bxp.3_Missense_Mutation_p.P157L|ERN2_uc010bxq.1_5'UTR NM_033266 NP_150296 Q76MJ5 ERN2_HUMAN Homo sapiens endoplasmic reticulum to nucleus signaling 2 (ERN2), mRNA. 109 apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent endoplasmic reticulum membrane|integral to membrane ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity large_intestine(2)|lung(2)|ovary(2) 6 GBM - Glioblastoma multiforme(48;0.0156) AACCAGCTCAGGGATGGTGAA 0.547000 68 3 0 0 0.009096 0 0 KBTBD8 84541 broad.mit.edu 37 3 67054126 67054126 + Missense_Mutation SNP G A A TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr3:67054126G>A uc003dmy.3 + 2 788 c.735G>A c.(733-735)atG>atA p.M245I KBTBD8_uc011bfv.2_Intron NM_032505 NP_115894 Q8NFY9 KBTB8_HUMAN Homo sapiens kelch repeat and BTB (POZ) domain containing 8 (KBTBD8), mRNA. 245 BACK. breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(4)|ovary(2)|prostate(1) 20 Lung NSC(201;0.0765) BRCA - Breast invasive adenocarcinoma(55;6.02e-06)|KIRC - Kidney renal clear cell carcinoma(39;0.105)|Kidney(39;0.125) TTCCTCTGATGGAAGATACCT 0.393000 87 7 0 0 0.029380 0 0 MYB 4602 broad.mit.edu 37 6 135507070 135507070 + Missense_Mutation SNP A C C TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr6:135507070A>C uc003qfh.3 + 1 252 c.53A>C c.(52-54)gAc>gCc p.D18A MYB_uc003qfp.3_Non-coding_Transcript|MYB_uc003qfn.3_Non-coding_Transcript|MYB_uc003qfk.3_Non-coding_Transcript|MYB_uc003qfc.3_Missense_Mutation_p.D18A|MYB_uc003qfr.3_Non-coding_Transcript|MYB_uc003qft.3_Non-coding_Transcript|MYB_uc003qfs.3_5'UTR|MYB_uc003qfw.3_5'UTR|MYB_uc010kgi.3_Missense_Mutation_p.D18A|MYB_uc003qfq.3_Missense_Mutation_p.D18A|MYB_uc010kgj.3_Missense_Mutation_p.D18A|MYB_uc003qfo.3_Missense_Mutation_p.D18A|MYB_uc003qfu.3_Missense_Mutation_p.D18A|MYB_uc003qfy.3_Non-coding_Transcript|MYB_uc003qfl.3_Non-coding_Transcript|MYB_uc003qfv.3_Non-coding_Transcript|MYB_uc003qfz.3_Non-coding_Transcript|MYB_uc003qfx.3_Non-coding_Transcript|MYB_uc003qga.3_Non-coding_Transcript|MYB_uc003qgb.3_Non-coding_Transcript|MYB_uc010kgk.3_Non-coding_Transcript|MYB_uc003qfd.3_Non-coding_Transcript|MYB_uc003qfi.3_Missense_Mutation_p.D18A|MYB_uc003qfe.3_Non-coding_Transcript|MYB_uc003qfg.3_Non-coding_Transcript|MYB_uc003qff.3_Non-coding_Transcript|MYB_uc003qfj.3_Non-coding_Transcript|MYB_uc003qfm.3_Non-coding_Transcript|MYB_uc003qgc.3_Non-coding_Transcript|MYB_uc003qfb.1_Missense_Mutation_p.D18A|MYB_uc003qgd.1_5'Flank NM_001130173 NP_001123645 P10242 MYB_HUMAN Homo sapiens v-myb myeloblastosis viral oncogene homolog (avian) (MYB), transcript variant 1, mRNA. 18 blood coagulation|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of T-helper cell differentiation|positive regulation of histone H3-K4 methylation|positive regulation of histone H3-K9 methylation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear matrix DNA binding|protein binding breast(4)|endometrium(1)|kidney(2)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 28 all_epithelial(2;0.109)|Breast(56;0.158)|Colorectal(23;0.221) Lung NSC(302;3.08e-05)|Ovarian(999;0.208) OV - Ovarian serous cystadenocarcinoma(155;0.0079)|GBM - Glioblastoma multiforme(68;0.0117) GATGATGAGGACTTTGAGATG 0.448000 T NFIB adenoid cystic carcinoma 110 10 0 0 0.093190 0 0 GSTM2P1 442245 broad.mit.edu 37 6 111368449 111368449 + Silent SNP C T T TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr6:111368449C>T uc003puq.3 - 0 309 c.174G>A c.(172-174)ggG>ggA p.G58G Homo sapiens glutathione S-transferase mu 2 (muscle) pseudogene 1 (GSTM2P1), non-coding RNA. AAATCTTCTCCCCTTCTGTCT 0.517000 64 8 0 0 0.047766 0 0 C6orf10 10665 broad.mit.edu 37 6 32261273 32261273 + Missense_Mutation SNP C T T TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr6:32261273C>T uc021yvt.1 - 22 1350 c.1177G>A c.(1177-1179)Gga>Aga p.G393R C6orf10_uc011dpx.2_Missense_Mutation_p.G384R|C6orf10_uc021yvs.1_Missense_Mutation_p.G310R|C6orf10_uc011dpz.2_Missense_Mutation_p.G391R|C6orf10_uc021yvu.1_Missense_Mutation_p.G391R|C6orf10_uc021yvv.1_Missense_Mutation_p.G377R NM_006781 NP_006772 Q5SRN2 CF010_HUMAN Homo sapiens chromosome 6 open reading frame 10 (C6orf10), mRNA. 393 integral to membrane cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|skin(1) 25 GCTTCCTGTCCCTTTGAGACA 0.488000 151 14 0 0 0.038395 0 0 PLEKHH2 130271 broad.mit.edu 37 2 43924387 43924387 + Missense_Mutation SNP G A A TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr2:43924387G>A uc010yny.2 + 6 663 c.580G>A c.(580-582)Ggg>Agg p.G194R PLEKHH2_uc002rte.3_Missense_Mutation_p.G194R|PLEKHH2_uc002rtf.3_Missense_Mutation_p.G193R NM_172069 NP_742066 Q8IVE3 PKHH2_HUMAN Homo sapiens pleckstrin homology domain containing, family H (with MyTH4 domain) member 2 (PLEKHH2), mRNA. 194 cytoplasm|cytoskeleton|integral to membrane binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 56 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) TTTGACCTTTGGGTGCTTTTT 0.418000 86 6 0 0 0.029380 0 0 DYNC2H1 79659 broad.mit.edu 37 11 103059271 103059271 + Missense_Mutation SNP G A A TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr11:103059271G>A uc001phn.1 + 43 7330 c.7186G>A c.(7186-7188)Ggt>Agt p.G2396S DYNC2H1_uc009yxe.1_Intron|DYNC2H1_uc001pho.2_Missense_Mutation_p.G2396S NM_001080463 NP_001073932 Q8NCM8 DYHC2_HUMAN Homo sapiens dynein, cytoplasmic 2, heavy chain 1 (DYNC2H1), transcript variant 2, mRNA. 2396 AAA 3 (By similarity). Golgi organization|cell projection organization|microtubule-based movement|multicellular organismal development Golgi apparatus|cilium axoneme|dynein complex|microtubule|plasma membrane ATP binding|ATPase activity|microtubule motor activity NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2) 33 Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348) BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785) GGAATGGGTTGGTCTAGAAAA 0.318000 74 5 0 0 0.029380 0 0 AGXT 189 broad.mit.edu 37 2 241808436 241808436 + Missense_Mutation SNP G A A TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr2:241808436G>A uc002waa.4 + 0 275 c.154G>A c.(154-156)Gat>Aat p.D52N AGXT_uc010zoi.1_Missense_Mutation_p.D52N NM_000030 NP_000021 P21549 SPYA_HUMAN Homo sapiens alanine-glyoxylate aminotransferase (AGXT), mRNA. 52 glyoxylate metabolic process|protein targeting to peroxisome mitochondrial matrix|peroxisomal matrix alanine-glyoxylate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|serine-pyruvate transaminase activity central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(9)|ovary(1)|prostate(1) 18 all_epithelial(40;1.61e-15)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15) Glycine(DB00145)|L-Alanine(DB00160)|L-Serine(DB00133)|Pyridoxal Phosphate(DB00114) CATGAGCAAGGATATGTACCA 0.642000 85 4 0 0 0.014758 0 0 LIPF 8513 broad.mit.edu 37 10 90431601 90431601 + Missense_Mutation SNP C T T TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr10:90431601C>T uc001kfg.2 + 5 662 c.548C>T c.(547-549)tCc>tTc p.S183F LIPF_uc001kfh.2_Missense_Mutation_p.S160F|LIPF_uc010qmt.2_Missense_Mutation_p.S193F|LIPF_uc010qmu.2_Missense_Mutation_p.S150F NM_004190 NP_004181 P07098 LIPG_HUMAN Homo sapiens lipase, gastric (LIPF), transcript variant 2, mRNA. 183 lipid catabolic process|triglyceride metabolic process extracellular region lipid binding|triglyceride lipase activity NS(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(6) 13 Colorectal(252;0.0161) Colorectal(12;3.91e-05)|COAD - Colon adenocarcinoma(12;5.43e-05) ATTGCCTTTTCCACCAATCCC 0.358000 148 28 0 0 0.064281 0 0 MXRA5 25878 broad.mit.edu 37 X 3238496 3238496 + Missense_Mutation SNP C T T TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chrX:3238496C>T uc004crg.4 - 4 5387 c.5230G>A c.(5230-5232)Gga>Aga p.G1744R NM_015419 NP_056234 Q9NR99 MXRA5_HUMAN Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA. 1744 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) CGGGTGACTCCCAACTGTGGA 0.463000 12 4 0 0 0.009096 0 0 KIAA0922 23240 broad.mit.edu 37 4 154533475 154533475 + Missense_Mutation SNP C T T TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr4:154533475C>T uc010ipp.3 + 25 3542 c.3490C>T c.(3490-3492)Cct>Tct p.P1164S KIAA0922_uc003inm.4_Missense_Mutation_p.P1163S|KIAA0922_uc010ipq.3_Missense_Mutation_p.P932S NM_001131007 NP_001124479 A2VDJ0 T131L_HUMAN Homo sapiens KIAA0922 (KIAA0922), transcript variant 1, mRNA. 1163 integral to membrane breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 all_hematologic(180;0.093) Renal(120;0.118) GGACACAAAGCCTTCTTCAGA 0.338000 42 7 0 0 0.029380 0 0 PMFBP1 83449 broad.mit.edu 37 16 72188248 72188248 + Silent SNP G A A TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr16:72188248G>A uc002fcc.4 - 3 448 c.276C>T c.(274-276)gtC>gtT p.V92V PMFBP1_uc002fcd.3_Silent_p.V92V|PMFBP1_uc002fce.3_Non-coding_Transcript|PMFBP1_uc002fcf.3_5'UTR NM_031293 NP_112583 Q8TBY8 PMFBP_HUMAN Homo sapiens polyamine modulated factor 1 binding protein 1 (PMFBP1), transcript variant 1, mRNA. 92 p.L91L(1) NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1) 45 Ovarian(137;0.179) CTTGTTGAAGGACCAGCAATT 0.468000 109 12 0 0 0.119110 0 0 USP20 10868 broad.mit.edu 37 9 132630713 132630714 + Missense_Mutation DNP CC TT TT TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr9:132630713_132630714CC>TT uc004bys.2 + 10 1331_1332 c.1120_1121CC>TT c.(1120-1122)ccc>TTc p.P374F USP20_uc004byr.2_Missense_Mutation_p.P374F|USP20_uc004byt.1_Missense_Mutation_p.P374F NM_001110303 NP_006667 Q9Y2K6 UBP20_HUMAN Homo sapiens ubiquitin specific peptidase 20 (USP20), transcript variant 3, mRNA. 374 endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process perinuclear region of cytoplasm G-protein-coupled receptor binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity|zinc ion binding breast(1)|endometrium(2)|large_intestine(3)|lung(4)|urinary_tract(1) 11 Ovarian(14;0.00556) GTCCTCCAGCCCCTGCCGGACG 0.693000 30 5 0 0 0.115264 0 0 TRRAP 8295 broad.mit.edu 37 7 98609040 98609040 + Missense_Mutation SNP C T T TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr7:98609040C>T uc003upp.3 + 70 11386 c.11177C>T c.(11176-11178)cCt>cTt p.P3726L TRRAP_uc011kis.2_Missense_Mutation_p.P3697L|TRRAP_uc003upr.3_Missense_Mutation_p.P3432L|TRRAP_uc003ups.3_5'Flank NM_001244580 NP_001231509 Q9Y4A5 TRRAP_HUMAN Homo sapiens transformation/transcription domain-associated protein (TRRAP), transcript variant 1, mRNA. 3726 PI3K/PI4K. histone H2A acetylation|histone H4 acetylation|histone deubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2) 176 all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274) STAD - Stomach adenocarcinoma(171;0.215) GCCAACCGTCCTGTCCCATTT 0.527000 83 7 0 0 0.038147 0 0 TMC2 117532 broad.mit.edu 37 20 2575520 2575520 + Missense_Mutation SNP G A A TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr20:2575520G>A uc002wgf.1 + 8 998 c.983G>A c.(982-984)aGg>aAg p.R328K TMC2_uc002wgg.1_Missense_Mutation_p.R312K|TMC2_uc010zpw.1_Missense_Mutation_p.R160K|TMC2_uc010zpx.1_Missense_Mutation_p.R159K NM_080751 NP_542789 Q8TDI7 TMC2_HUMAN Homo sapiens transmembrane channel-like 2 (TMC2), mRNA. 328 integral to membrane NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 35 AACAACCAGAGGACCATCGGG 0.517000 75 11 0 0 0.069234 0 0 RBM12 10137 broad.mit.edu 37 20 34242197 34242197 + Missense_Mutation SNP A C C TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr20:34242197A>C uc021wcr.1 - 0 1048 c.1048T>G c.(1048-1050)Ttt>Gtt p.F350V CPNE1_uc010zvj.2_5'Flank|CPNE1_uc002xde.3_Intron|CPNE1_uc002xdf.3_Intron|CPNE1_uc002xdi.3_Intron|CPNE1_uc002xdj.3_Intron|CPNE1_uc002xdl.3_Intron|CPNE1_uc002xdm.3_Intron|CPNE1_uc010gfk.2_Intron|CPNE1_uc002xdn.1_Intron|CPNE1_uc002xdo.1_Intron|CPNE1_uc002xdp.1_Intron|RBM12_uc002xdq.3_Missense_Mutation_p.F350V|RBM12_uc002xds.3_Missense_Mutation_p.F350V|RBM12_uc002xdr.3_Missense_Mutation_p.F350V|RBM12_uc021wcq.1_Missense_Mutation_p.F350V NM_152838 NP_690051 Q9NTZ6 RBM12_HUMAN Homo sapiens RNA binding motif protein 12 (RBM12), transcript variant 2, mRNA. 350 RRM 1. nucleus RNA binding|nucleotide binding|protein binding breast(3)|endometrium(7)|kidney(1)|large_intestine(3)|lung(14)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 Lung NSC(9;0.00608)|all_lung(11;0.00918) BRCA - Breast invasive adenocarcinoma(18;0.00953) GGGGAGAGAAACTTAACCAAT 0.413000 OREG0004044 type=REGULATORY REGION|Gene=CPNE1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 139 26 0 0 0.134883 0 0 NBPF3 84224 broad.mit.edu 37 1 21807433 21807433 + Silent SNP G A A TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr1:21807433G>A uc001ber.3 + 11 1742 c.1392G>A c.(1390-1392)aaG>aaA p.K464K NBPF3_uc001bes.3_Silent_p.K408K|NBPF3_uc009vqb.3_Silent_p.K452K|NBPF3_uc010odm.2_Silent_p.K394K NM_032264 NP_115640 Q9H094 NBPF3_HUMAN Homo sapiens neuroblastoma breakpoint family, member 3 (NBPF3), transcript variant 1, mRNA. 464 NBPF 4. cytoplasm breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2) 20 all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199) GAATGAAAAAGGACCAAGAAG 0.473000 189 11 0 0 0.132662 0 0 VPS35 55737 broad.mit.edu 37 16 46697009 46697009 + Silent SNP C T T TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr16:46697009C>T uc002eef.4 - 13 1812 c.1713G>A c.(1711-1713)ttG>ttA p.L571L VPS35_uc002eed.3_Silent_p.L392L|VPS35_uc002eee.3_Silent_p.L532L NM_018206 NP_060676 Q96QK1 VPS35_HUMAN Homo sapiens vacuolar protein sorting 35 homolog (S. cerevisiae) (VPS35), mRNA. 571 protein transport|retrograde transport, endosome to Golgi cytosol|endosome|membrane protein binding breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|pancreas(1)|prostate(1)|urinary_tract(1) 23 all_cancers(37;7.65e-05)|all_epithelial(9;0.000154)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116) CTGCTTTGATCAAAGCACTGA 0.378000 39 8 0 0 0.038147 0 0 CCNB3 85417 broad.mit.edu 37 X 50052937 50052937 + Missense_Mutation SNP G A A TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chrX:50052937G>A uc004dox.4 + 5 2066 c.1768G>A c.(1768-1770)Gaa>Aaa p.E590K CCNB3_uc004doy.3_Missense_Mutation_p.E590K|CCNB3_uc004doz.3_Intron|CCNB3_uc010njq.3_Intron NM_033031 NP_149020 Q8WWL7 CCNB3_HUMAN Homo sapiens cyclin B3 (CCNB3), transcript variant 3, mRNA. 590 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) GTCTTTACAGGAAAAGAAAAT 0.413000 9 3 0 0 0.115264 0 0 MFSD5 84975 broad.mit.edu 37 12 53647064 53647064 + Missense_Mutation SNP G A A TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr12:53647064G>A uc001sch.2 + 1 913 c.766G>A c.(766-768)Gag>Aag p.E256K MFSD5_uc001sci.2_Missense_Mutation_p.E149K|MFSD5_uc021qye.1_Missense_Mutation_p.E149K NM_001170790 NP_116278 Q6N075 MFSD5_HUMAN Homo sapiens major facilitator superfamily domain containing 5 (MFSD5), transcript variant 1, mRNA. 149 transport integral to membrane breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|skin(3)|urinary_tract(1) 16 CTCAGCCTTCGAGGCCTGGTA 0.557000 245 45 0 0 0.139131 0 0 AMY2B 280 broad.mit.edu 37 1 104117928 104117928 + Missense_Mutation SNP G A A TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr1:104117928G>A uc010ouo.2 + 17 2666 c.962G>A c.(961-963)gGg>gAg p.G321E AMY2B_uc001duq.3_Missense_Mutation_p.G321E|AMY2B_uc001dur.3_Missense_Mutation_p.G321E|AMY2B_uc001dus.1_5'Flank NM_020978 NP_066188 P19961 AMY2B_HUMAN Homo sapiens amylase, alpha 2B (pancreatic) (AMY2B), mRNA. 321 carbohydrate metabolic process|digestion extracellular region alpha-amylase activity|metal ion binding breast(1)|endometrium(7)|kidney(4)|large_intestine(1)|lung(30)|prostate(1)|skin(1)|urinary_tract(1) 46 all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451) Colorectal(144;0.0669)|all cancers(265;0.083)|Epithelial(280;0.094)|Lung(183;0.112) CGAGGACATGGGGCTGGAGGA 0.398000 505 28 0 0 0.059317 0 0 EXOC7 23265 broad.mit.edu 37 17 74099764 74099765 + Missense_Mutation DNP GG AA AA TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr17:74099764_74099765GG>AA uc002jqs.3 - 0 104_105 c.9_10CC>TT c.(7-12)ccccca>ccTTca p.P4S EXOC7_uc010dgv.2_5'Flank|EXOC7_uc010wsv.2_5'Flank|EXOC7_uc010wsw.2_Missense_Mutation_p.P4S|EXOC7_uc002jqq.3_Missense_Mutation_p.P4S|EXOC7_uc010wsx.2_Missense_Mutation_p.P4S|EXOC7_uc002jqr.3_Missense_Mutation_p.P4S|EXOC7_uc002jqu.2_Missense_Mutation_p.P4S|EXOC7_uc002jqv.2_Missense_Mutation_p.P4S NM_001145297 NP_001138769 Q9UPT5 EXOC7_HUMAN Homo sapiens exocyst complex component 7 (EXOC7), transcript variant 4, mRNA. 4 exocytosis|protein transport centriolar satellite|cytosol|exocyst|plasma membrane protein binding NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1) 14 LUSC - Lung squamous cell carcinoma(166;0.187) GCCTCCTGTGGGGGAATCATCG 0.678000 19 5 0 0 0.115264 0 0 NIPAL1 152519 broad.mit.edu 37 4 48036946 48036946 + Silent SNP G A A TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr4:48036946G>A uc003gxw.3 + 4 576 c.510G>A c.(508-510)ggG>ggA p.G170G NM_207330 NP_997213 Q6NVV3 NIPA3_HUMAN Homo sapiens NIPA-like domain containing 1 (NIPAL1), mRNA. 170 integral to membrane p.G170R(1) endometrium(2)|large_intestine(1)|lung(3)|skin(2) 8 ACATTCATGGGAAAATAGGCT 0.353000 63 6 0 0 0.029380 0 0 TBL1Y 90665 broad.mit.edu 37 Y 6932064 6932064 + Missense_Mutation SNP G A A TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chrY:6932064G>A uc004frb.3 + 7 978 c.331G>A c.(331-333)Gca>Aca p.A111T TBL1Y_uc004frc.3_Missense_Mutation_p.A111T|TBL1Y_uc004frd.3_Missense_Mutation_p.A111T|TBL1Y_uc011nap.2_5'UTR NM_033284 NP_599021 Q9BQ87 TBL1Y_HUMAN Homo sapiens transducin (beta)-like 1, Y-linked (TBL1Y), transcript variant 1, mRNA. 111 transcription, DNA-dependent kidney(1)|large_intestine(4)|lung(2)|skin(1) 8 AGCCAGTGCAGCAGCCACAGA 0.547000 25 3 0 0 0.115264 0 0 BTNL2 56244 broad.mit.edu 37 6 32362548 32362548 + Missense_Mutation SNP C T T TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr6:32362548C>T uc003obg.1 - 5 1333 c.1333G>A c.(1333-1335)Gag>Aag p.E445K BTNL2_uc010jty.1_Missense_Mutation_p.E168K|BTNL2_uc010jtz.1_Non-coding_Transcript|BTNL2_uc010jua.1_Missense_Mutation_p.E235K NM_019602 NP_062548 Q9UIR0 BTNL2_HUMAN Homo sapiens butyrophilin-like 2 (MHC class II associated) (BTNL2), mRNA. 445 integral to membrane central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)|urinary_tract(1) 19 GCGATTTTCTCCTCGCCCAAA 0.458000 70 6 0 0 0.029380 0 0 IKBKB 3551 broad.mit.edu 37 8 42147786 42147786 + Missense_Mutation SNP C T T TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr8:42147786C>T uc003xow.2 + 3 499 c.313C>T c.(313-315)Cgg>Tgg p.R105W IKBKB_uc003xov.3_Missense_Mutation_p.R105W|IKBKB_uc010lxh.2_Intron|IKBKB_uc011lco.2_Non-coding_Transcript|IKBKB_uc003xox.2_5'UTR|IKBKB_uc010lxj.2_Intron|IKBKB_uc011lcp.2_Non-coding_Transcript|IKBKB_uc011lcq.2_Missense_Mutation_p.R103W|IKBKB_uc010lxi.2_Non-coding_Transcript|IKBKB_uc011lcr.2_Missense_Mutation_p.R46W NM_001556 NP_001547 O14920 IKKB_HUMAN Homo sapiens inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta (IKBKB), transcript variant 1, mRNA. 105 Protein kinase. MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|T cell receptor signaling pathway|Toll signaling pathway|anti-apoptosis|innate immune response|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway CD40 receptor complex|cytosol|internal side of plasma membrane|membrane raft ATP binding|IkappaB kinase activity|identical protein binding breast(4)|lung(1)|ovary(2)|skin(1) 8 all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;6.21e-12)|Lung NSC(13;1.04e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211) all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954) BRCA - Breast invasive adenocarcinoma(8;1.37e-10)|Colorectal(10;0.00102)|OV - Ovarian serous cystadenocarcinoma(14;0.00168)|Lung(22;0.00467)|LUSC - Lung squamous cell carcinoma(45;0.024)|COAD - Colon adenocarcinoma(11;0.0264) Arsenic trioxide(DB01169)|Auranofin(DB00995) AGGAGATCTCCGGAAGGTGAG 0.612000 19 3 0 0 0.009096 0 0 PCDHB12 56124 broad.mit.edu 37 5 140588672 140588672 + Missense_Mutation SNP C T T TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr5:140588672C>T uc003liz.3 + 0 382 c.193C>T c.(193-195)Cgg>Tgg p.R65W PCDHB12_uc011dak.2_Intron NM_018932 NP_061755 Q9Y5F1 PCDBC_HUMAN Homo sapiens protocadherin beta 12 (PCDHB12), mRNA. 65 Cadherin 1. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding p.R65Q(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) GCGGGGGGCTCGGGTGGTTTC 0.517000 117 9 0 0 0.058154 0 0 RSBN1 54665 broad.mit.edu 37 1 114340452 114340452 + Missense_Mutation SNP G A A TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr1:114340452G>A uc001edq.3 - 1 946 c.910C>T c.(910-912)Ctt>Ttt p.L304F RSBN1_uc001edr.3_Non-coding_Transcript NM_018364 NP_060834 Q5VWQ0 RSBN1_HUMAN Homo sapiens round spermatid basic protein 1 (RSBN1), mRNA. 304 nucleus breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(3)|urinary_tract(2) 29 Lung SC(450;0.184) all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) TCCTTATTAAGTCCTGAAGTG 0.423000 106 17 0 0 0.033300 0 0 KHNYN 23351 broad.mit.edu 37 14 24906411 24906411 + Missense_Mutation SNP G A A TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr14:24906411G>A uc010tpc.2 + 7 2096 c.2080G>A c.(2080-2082)Gtg>Atg p.V694M KHNYN_uc001wph.4_Missense_Mutation_p.V653M|KHNYN_uc010alw.3_Missense_Mutation_p.V653M NM_015299 NP_056114 O15037 KHNYN_HUMAN Homo sapiens KH and NYN domain containing (KHNYN), mRNA. 653 kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(3) 24 GGATCACAAAGTGGACTTCAT 0.567000 OREG0022628 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 81 13 0 0 0.119110 0 0 SETDB2 83852 broad.mit.edu 37 13 50055134 50055134 + Silent SNP C T T TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr13:50055134C>T uc001vcz.3 + 8 1980 c.1074C>T c.(1072-1074)aaC>aaT p.N358N SETDB2_uc010adg.2_Silent_p.N334N|SETDB2_uc010adh.2_Silent_p.N346N|SETDB2_uc001vda.3_Silent_p.N346N|SETDB2_uc021rjn.1_Silent_p.N275N NM_031915 NP_114121 Q96T68 SETB2_HUMAN Homo sapiens SET domain, bifurcated 2 (SETDB2), transcript variant 1, mRNA. 358 Pre-SET. cell division|chromosome segregation|heart looping|left/right axis specification|mitosis|negative regulation of transcription, DNA-dependent chromosome|nucleus DNA binding|histone methyltransferase activity (H3-K9 specific)|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1) 15 Lung NSC(96;0.000408)|Breast(56;0.00131)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236) KIRC - Kidney renal clear cell carcinoma(9;0.206) GBM - Glioblastoma multiforme(99;3.1e-09) TGTGTCAAAACCGAGTTGTCC 0.413000 104 10 0 0 0.093190 0 0 TAS2R1 50834 broad.mit.edu 37 5 9629306 9629306 + Missense_Mutation SNP C T T TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr5:9629306C>T uc003jem.1 - 0 1158 c.839G>A c.(838-840)gGa>gAa p.G280E NM_019599 NP_062545 Q9NYW7 TA2R1_HUMAN Homo sapiens taste receptor, type 2, member 1 (TAS2R1), mRNA. 280 chemosensory behavior|sensory perception of taste integral to membrane taste receptor activity breast(5)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(19)|ovary(3)|prostate(1)|skin(1)|stomach(1) 39 TTTAGGATTTCCTAAAATTAA 0.373000 69 16 0 0 0.049695 0 0 C1orf65 164127 broad.mit.edu 37 1 223568659 223568659 + Silent SNP C T T TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr1:223568659C>T uc001hoa.2 + 0 1945 c.1842C>T c.(1840-1842)ctC>ctT p.L614L NM_152610 NP_689823 Q8N715 CA065_HUMAN Homo sapiens chromosome 1 open reading frame 65 (C1orf65), mRNA. 614 p.L614F(1) breast(4)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|skin(3) 29 GBM - Glioblastoma multiforme(131;0.0704) AGGCCCAGCTCCGTGCCTGTC 0.552000 25 3 0 0 0.014758 0 0 FAM83H 286077 broad.mit.edu 37 8 144808445 144808446 + Missense_Mutation DNP GG AA AA TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr8:144808445_144808446GG>AA uc003yzk.3 - 4 3254_3255 c.3185_3186CC>TT c.(3184-3186)ccc>cTT p.P1062L NM_198488 NP_940890 Q6ZRV2 FA83H_HUMAN Homo sapiens family with sequence similarity 83, member H (FAM83H), mRNA. 1062 biomineral tissue development central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1) 21 all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146) GGGTCGGGCCGGGGCTCGGGGC 0.644000 15 7 0 0 0.115264 0 0 CYP11B2 1585 broad.mit.edu 37 8 143999174 143999174 + Missense_Mutation SNP G A A rs143027239 TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr8:143999174G>A uc003yxk.1 - 0 86 c.83C>T c.(82-84)gCc>gTc p.A28V NM_000498 NP_000489 P19099 C11B2_HUMAN Homo sapiens cytochrome P450, family 11, subfamily B, polypeptide 2 (CYP11B2), nuclear gene encoding mitochondrial protein, mRNA. 28 aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|potassium ion homeostasis|regulation of blood volume by renal aldosterone|sodium ion homeostasis|xenobiotic metabolic process corticosterone 18-monooxygenase activity|electron carrier activity|steroid 11-beta-monooxygenase activity cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(22)|ovary(3)|upper_aerodigestive_tract(3) 39 all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) Candesartan(DB00796)|Metyrapone(DB01011) GGCCCGAGCGGCTCTAGTGCC 0.647000 Familial Hyperaldosteronism type I 99 17 0 0 0.043863 0 0 OR4M1 441670 broad.mit.edu 37 14 20248759 20248759 + Missense_Mutation SNP C T T TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr14:20248759C>T uc010tku.2 + 0 278 c.278C>T c.(277-279)tCc>tTc p.S93F NM_001005500 NP_001005500 Q8NGD0 OR4M1_HUMAN Homo sapiens olfactory receptor, family 4, subfamily M, member 1 (OR4M1), mRNA. 93 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.S93S(1) NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2) 42 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) AAGATAATTTCCTTTGGTGGA 0.448000 409 42 0 0 0.139131 0 0 OTC 5009 broad.mit.edu 37 X 38271195 38271195 + Missense_Mutation SNP T A A TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chrX:38271195T>A uc004def.4 + 8 1162 c.948T>A c.(946-948)ttT>ttA p.F316L NM_000531 NP_000522 P00480 OTC_HUMAN Homo sapiens ornithine carbamoyltransferase (OTC), nuclear gene encoding mitochondrial protein, mRNA. 316 arginine biosynthetic process|urea cycle mitochondrial matrix|ornithine carbamoyltransferase complex ornithine carbamoyltransferase activity breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 22 L-Citrulline(DB00155)|L-Ornithine(DB00129) ATGAAGTCTTTTATTCTCCTC 0.428000 71 30 0 0 0.125774 0 0 CBFA2T2 9139 broad.mit.edu 37 20 32232248 32232248 + Silent SNP G A A TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr20:32232248G>A uc002wzg.1 + 11 2148 c.1611G>A c.(1609-1611)gaG>gaA p.E537E CBFA2T2_uc010zug.1_Silent_p.E311E|CBFA2T2_uc002wze.1_Silent_p.E528E|CBFA2T2_uc002wzf.1_Non-coding_Transcript|CBFA2T2_uc002wzh.1_Silent_p.E508E|CBFA2T2_uc002wzi.1_Non-coding_Transcript|CBFA2T2_uc002wzj.1_Non-coding_Transcript|CBFA2T2_uc002wzk.1_Silent_p.E85E NM_005093 NP_001034798 O43439 MTG8R_HUMAN Homo sapiens core-binding factor, runt domain, alpha subunit 2; translocated to, 2 (CBFA2T2), transcript variant 2, mRNA. 537 nucleus protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2) 20 AGGACTGGGAGCGGCACCACC 0.647000 85 19 0 0 0.062417 0 0 MDM1 56890 broad.mit.edu 37 12 68717015 68717015 + Silent SNP G A A TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr12:68717015G>A uc001stz.2 - 4 775 c.639C>T c.(637-639)ttC>ttT p.F213F MDM1_uc009zqv.1_5'UTR|MDM1_uc010stc.1_Silent_p.F168F NM_017440 NP_059136 Q8TC05 MDM1_HUMAN Homo sapiens Mdm1 nuclear protein homolog (mouse) (MDM1), transcript variant 1, mRNA. 213 nucleus breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(7) 33 Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018) GBM - Glioblastoma multiforme(7;0.000174) TTTTATTGTGGAAAACCTTAA 0.303000 72 7 0 0 0.047766 0 0 DSTYK 25778 broad.mit.edu 37 1 205130488 205130488 + Missense_Mutation SNP C T T TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr1:205130488C>T uc001hbw.3 - 6 1910 c.1846G>A c.(1846-1848)Gag>Aag p.E616K DSTYK_uc001hbx.3_Missense_Mutation_p.E616K|DSTYK_uc001hby.1_Missense_Mutation_p.E77K NM_015375 NP_056190 Q6XUX3 DUSTY_HUMAN Homo sapiens dual serine/threonine and tyrosine protein kinase (DSTYK), transcript variant 1, mRNA. 616 cytoplasm ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity breast(2)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2) 14 TCCGTTTTCTCTAACCGGCCT 0.498000 60 7 0 0 0.038147 0 0 PCDHB3 56132 broad.mit.edu 37 5 140480653 140480653 + Silent SNP G A A TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr5:140480653G>A uc003lio.3 + 0 420 c.420G>A c.(418-420)ctG>ctA p.L140L BC016751_uc003lin.3_Intron NM_018937 NP_061760 Q9Y5E6 PCDB3_HUMAN Homo sapiens protocadherin beta 3 (PCDHB3), mRNA. 140 Cadherin 2. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding p.H139N(1) NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 72 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) AAATGCATCTGAAAATCCTAG 0.403000 129 16 0 0 0.043863 0 0 P4HA3 283208 broad.mit.edu 37 11 73997013 73997013 + Silent SNP G A A TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr11:73997013G>A uc010rrj.2 - 6 994 c.951C>T c.(949-951)atC>atT p.I317I P4HA3_uc001ouy.4_Non-coding_Transcript|P4HA3_uc001ouz.3_Silent_p.I317I Q7Z4N8 P4HA3_HUMAN Homo sapiens prolyl 4-hydroxylase, alpha polypeptide III (P4HA3), mRNA. 317 endoplasmic reticulum lumen L-ascorbic acid binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity NS(1)|biliary_tract(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(5)|skin(1) 15 Breast(11;2.31e-05) AGAGGCTAGGGATCTGGTAGA 0.493000 116 14 0 0 0.038395 0 0 ANKRD12 23253 broad.mit.edu 37 18 9258025 9258025 + Missense_Mutation SNP C T T TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr18:9258025C>T uc002knv.3 + 8 5024 c.4760C>T c.(4759-4761)tCa>tTa p.S1587L ANKRD12_uc002knw.3_Missense_Mutation_p.S1564L|ANKRD12_uc002knx.3_Missense_Mutation_p.S1564L|ANKRD12_uc010dkx.1_Missense_Mutation_p.S1294L NM_015208 NP_056023 Q6UB98 ANR12_HUMAN Homo sapiens ankyrin repeat domain 12 (ANKRD12), transcript variant 1, mRNA. 1587 nucleus NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2) 65 GTGTTACCATCAGAAAAGGAC 0.393000 75 16 0 0 0.038395 0 0 PCDH15 65217 broad.mit.edu 37 10 55943256 55943256 + Missense_Mutation SNP G A A TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr10:55943256G>A uc010qhy.1 - 13 1948 c.1553C>T c.(1552-1554)tCc>tTc p.S518F PCDH15_uc010qhq.2_Missense_Mutation_p.S518F|PCDH15_uc010qhr.2_Missense_Mutation_p.S513F|PCDH15_uc021pqv.1_Missense_Mutation_p.S513F|PCDH15_uc021pqw.1_Missense_Mutation_p.S525F|PCDH15_uc010qht.2_Missense_Mutation_p.S520F|PCDH15_uc021pqx.1_Missense_Mutation_p.S513F|PCDH15_uc001jjv.1_Missense_Mutation_p.S491F|PCDH15_uc021pqy.1_Missense_Mutation_p.S513F|PCDH15_uc021pqz.1_Missense_Mutation_p.S491F|PCDH15_uc010qhv.1_Missense_Mutation_p.S513F|PCDH15_uc010qhw.1_Missense_Mutation_p.S476F|PCDH15_uc010qhx.1_Missense_Mutation_p.S513F|PCDH15_uc010qhz.1_Missense_Mutation_p.S513F|PCDH15_uc010qia.1_Missense_Mutation_p.S491F|PCDH15_uc001jju.1_Missense_Mutation_p.S513F|PCDH15_uc010qib.1_Missense_Mutation_p.S491F|PCDH15_uc001jjw.3_Missense_Mutation_p.S513F NM_001142763 NP_001136235 Q96QU1 PCD15_HUMAN Homo sapiens protocadherin-related 15 (PCDH15), transcript variant A, mRNA. 513 Cadherin 5. 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) CACATCATAGGATATTTCAGG 0.378000 HNSCC(58;0.16) 116 14 0 0 0.132662 0 0 NFATC3 4775 broad.mit.edu 37 16 68225518 68225519 + Nonsense_Mutation DNP CC TT TT TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr16:68225518_68225519CC>TT uc002evo.2 + 8 3262_3263 c.2946_2947CC>TT c.(2944-2949)ggccag>ggTTag p.Q983* NFATC3_uc010vkl.2_Nonsense_Mutation_p.Q504*|NFATC3_uc010vkm.2_Nonsense_Mutation_p.Q504*|NFATC3_uc010vkn.2_Nonsense_Mutation_p.Q504*|NFATC3_uc010vko.2_Nonsense_Mutation_p.Q504*|NFATC3_uc010vkp.2_Nonsense_Mutation_p.Q504*|NFATC3_uc010vkq.2_Nonsense_Mutation_p.Q504*|NFATC3_uc002evl.3_Nonsense_Mutation_p.Q504*|NFATC3_uc002evk.3_Nonsense_Mutation_p.Q983*|NFATC3_uc002evm.2_Nonsense_Mutation_p.Q983*|NFATC3_uc002evn.2_Nonsense_Mutation_p.Q983*|NFATC3_uc010vkr.2_Nonsense_Mutation_p.Q504*|NFATC3_uc010vks.2_Nonsense_Mutation_p.Q504*|NFATC3_uc010vkt.2_Nonsense_Mutation_p.Q504*|NFATC3_uc010vku.2_Nonsense_Mutation_p.Q504*|NFATC3_uc010vkv.2_Nonsense_Mutation_p.Q504*|NFATC3_uc010vkw.2_Nonsense_Mutation_p.Q504*|NFATC3_uc010vkx.2_Nonsense_Mutation_p.Q504*|NFATC3_uc010vky.2_Nonsense_Mutation_p.Q504*|NFATC3_uc010vkz.2_Nonsense_Mutation_p.Q504*|NFATC3_uc010vla.2_Nonsense_Mutation_p.Q504*|NFATC3_uc010vlb.2_Nonsense_Mutation_p.Q504*|NFATC3_uc010vlc.2_Nonsense_Mutation_p.Q504* NM_173165 NP_775188 Q12968 NFAC3_HUMAN Homo sapiens nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 3 (NFATC3), transcript variant 1, mRNA. 983 inflammatory response|transcription from RNA polymerase II promoter nucleolus|plasma membrane DNA binding NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2) 44 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0452)|all cancers(182;0.24) AAAGTACGGGCCAGGGGGGTCT 0.505000 198 12 0 0 0.115264 0 0 CDC42BPA 8476 broad.mit.edu 37 1 227216516 227216516 + Missense_Mutation SNP G A A TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr1:227216516G>A uc001hqr.3 - 28 5112 c.4169C>T c.(4168-4170)tCa>tTa p.S1390L CDC42BPA_uc001hqq.3_Missense_Mutation_p.S689L|CDC42BPA_uc001hqs.3_Missense_Mutation_p.S1309L|CDC42BPA_uc009xes.3_Missense_Mutation_p.S1362L|CDC42BPA_uc010pvs.2_Missense_Mutation_p.S1370L|CDC42BPA_uc001hqp.3_Missense_Mutation_p.S546L|CDC42BPA_uc001hqt.2_Missense_Mutation_p.S268L|CDC42BPA_uc001hqu.1_Missense_Mutation_p.S597L NM_003607 NP_003598 Q5VT25 MRCKA_HUMAN Homo sapiens CDC42 binding protein kinase alpha (DMPK-like) (CDC42BPA), transcript variant B, mRNA. 1403 CNH. actin cytoskeleton reorganization|intracellular signal transduction cell leading edge|cell-cell junction|cytoplasm ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2) 77 all_cancers(173;0.156)|Prostate(94;0.0792) TGCAATAAATGATAGTGTATG 0.408000 96 11 0 0 0.093190 0 0 UGDH 7358 broad.mit.edu 37 4 39507238 39507238 + Splice_Site SNP C T T TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr4:39507238C>T uc003guk.2 - 8 1360 c.1037_splice c.e8+1 p.R346_splice UGDH_uc011byp.2_Splice_Site_p.R249_splice|UGDH_uc003gul.2_Splice_Site_p.R279_splice NM_003359 NP_001171630 O60701 UGDH_HUMAN Homo sapiens UDP-glucose 6-dehydrogenase (UGDH), transcript variant 1, mRNA. 346 UDP-glucose metabolic process|UDP-glucuronate biosynthetic process|glycosaminoglycan biosynthetic process|xenobiotic metabolic process cytosol NAD binding|UDP-glucose 6-dehydrogenase activity|electron carrier activity breast(1)|central_nervous_system(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(2) 27 NADH(DB00157) AAACTGATACCTTGTATCACC 0.318000 148 25 0 0 0.144211 0 0 CD1E 913 broad.mit.edu 37 1 158326598 158326598 + Missense_Mutation SNP C T T TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr1:158326598C>T uc001fse.3 + 5 1372 c.1079C>T c.(1078-1080)tCa>tTa p.S360L CD1E_uc001fsh.3_Missense_Mutation_p.S159L|CD1E_uc001fry.3_Missense_Mutation_p.S293L|CD1E_uc001fsf.3_Missense_Mutation_p.S348L|CD1E_uc001fsg.3_3'UTR|CD1E_uc009wsv.3_Missense_Mutation_p.S261L|CD1E_uc001fsj.3_Missense_Mutation_p.S203L|CD1E_uc001fsk.3_Missense_Mutation_p.S270L|CD1E_uc001fsa.3_Missense_Mutation_p.S116L|CD1E_uc001fsd.3_3'UTR|CD1E_uc001frz.3_Missense_Mutation_p.S258L|CD1E_uc010pig.2_Missense_Mutation_p.S104L|CD1E_uc001fsc.3_Missense_Mutation_p.S171L|CD1E_uc021pbm.1_Non-coding_Transcript|CD1E_uc009wsw.3_Nonsense_Mutation_p.Q75* NM_030893 NP_112155 P15812 CD1E_HUMAN Homo sapiens CD1e molecule (CD1E), transcript variant 1, mRNA. 360 antigen processing and presentation|immune response Golgi membrane|early endosome|integral to plasma membrane|late endosome|lysosomal lumen breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1) 49 all_hematologic(112;0.0378) ACCAAGAATTCAAGACATCAG 0.448000 103 14 0 0 0.132662 0 0 C19orf21 126353 broad.mit.edu 37 19 758344 758344 + Silent SNP C T T TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr19:758344C>T uc002lpo.3 + 1 1481 c.1398C>T c.(1396-1398)tcC>tcT p.S466S NM_173481 NP_775752 Q8IVT2 CS021_HUMAN Homo sapiens chromosome 19 open reading frame 21 (C19orf21), mRNA. 466 breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000145)|all_lung(49;0.000236)|Breast(49;0.0014) 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) CCACGATGTCCCCGAGGCATC 0.612000 65 12 0 0 0.119110 0 0 FAT4 79633 broad.mit.edu 37 4 126370225 126370225 + Missense_Mutation SNP G A A TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr4:126370225G>A uc003ifj.4 + 8 8054 c.8054G>A c.(8053-8055)cGa>cAa p.R2685Q FAT4_uc011cgp.2_Missense_Mutation_p.R983Q|FAT4_uc003ifi.1_Missense_Mutation_p.R163Q NM_024582 NP_078858 Q6V0I7 FAT4_HUMAN Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA. 2685 Cadherin 26. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.R2685Q(3) NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 CTTTCCCCTCGAAAAATACTT 0.348000 168 22 0 0 0.099896 0 0 ZNF836 162962 broad.mit.edu 37 19 52658648 52658648 + Missense_Mutation SNP G A A TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr19:52658648G>A uc010ydj.2 - 4 2810 c.2288C>T c.(2287-2289)tCg>tTg p.S763L ZNF836_uc010ydi.2_Missense_Mutation_p.S763L NM_001102657 NP_001096127 Q6ZNA1 ZN836_HUMAN Homo sapiens zinc finger protein 836 (ZNF836), mRNA. 763 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 26 TGCAAGGTTCGAAGTGGAATT 0.423000 56 7 0 0 0.029380 0 0 FGFR2 2263 broad.mit.edu 37 10 123310941 123310941 + Missense_Mutation SNP C T T rs67257519 TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr10:123310941C>T uc021pzz.1 - 4 1134 c.487G>A c.(487-489)Gaa>Aaa p.E163K FGFR2_uc021pzv.1_Missense_Mutation_p.E163K|FGFR2_uc021pzw.1_Missense_Mutation_p.E48K|FGFR2_uc021pzx.1_Missense_Mutation_p.E74K|FGFR2_uc021pzy.1_Missense_Mutation_p.E163K|FGFR2_uc010qtl.2_Missense_Mutation_p.E163K|FGFR2_uc010qtm.2_Missense_Mutation_p.E48K|FGFR2_uc021qaa.1_Missense_Mutation_p.E163K|FGFR2_uc021qab.1_Missense_Mutation_p.E74K|FGFR2_uc021qac.1_Missense_Mutation_p.E93K|FGFR2_uc001lfn.4_Non-coding_Transcript|FGFR2_uc010qtn.2_Missense_Mutation_p.E182K|FGFR2_uc010qto.2_Missense_Mutation_p.E67K|FGFR2_uc001lfo.1_Missense_Mutation_p.E182K|FGFR2_uc010qtp.2_Missense_Mutation_p.E182K|FGFR2_uc010qtq.2_Missense_Mutation_p.E182K NM_000141 NP_000132 P21802 FGFR2_HUMAN Homo sapiens fibroblast growth factor receptor 2 (FGFR2), transcript variant 1, mRNA. 163 Heparin-binding.|Ig-like C2-type 2. angiogenesis|axonogenesis|bone mineralization|bone morphogenesis|branch elongation involved in salivary gland morphogenesis|branching involved in embryonic placenta morphogenesis|branching morphogenesis of a nerve|bud elongation involved in lung branching|cell fate commitment|cell growth|cell-cell signaling|cellular response to protein stimulus|embryonic digestive tract morphogenesis|embryonic pattern specification|epithelial cell proliferation involved in salivary gland morphogenesis|fibroblast growth factor receptor signaling pathway involved in hemopoiesis|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptosis in bone marrow|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow|hair follicle morphogenesis|insulin receptor signaling pathway|lacrimal gland development|lateral sprouting from an epithelium|limb bud formation|lung alveolus development|lung lobe morphogenesis|lung-associated mesenchyme development|mammary gland bud formation|membranous septum morphogenesis|mesenchymal cell differentiation involved in lung development|mesenchymal cell proliferation involved in lung development|midbrain development|multicellular organism growth|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|organ growth|otic vesicle formation|outflow tract septum morphogenesis|positive regulation of ERK1 and ERK2 cascade|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell cycle|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis|prostate epithelial cord elongation|pyramidal neuron development|regulation of branching involved in prostate gland morphogenesis|regulation of cell fate commitment|regulation of fibroblast growth factor receptor signaling pathway|regulation of multicellular organism growth|regulation of smooth muscle cell differentiation|regulation of smoothened signaling pathway|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development|ureteric bud development|ventricular cardiac muscle tissue morphogenesis|ventricular zone neuroblast division cell cortex|cell surface|excitatory synapse|extracellular region|integral to membrane|nucleus|plasma membrane ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|heparin binding|protein binding breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2) 181 Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107) STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722) all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845) Palifermin(DB00039) AGCCGCTTTTCCATCTTTTCT 0.512000 5 Mis """gastric. NSCLC, endometrial""" """Crouzon, Pfeiffer, and Apert syndromes""" Saethre-Chotzen syndrome;Apert syndrome 54 12 0 0 0.080935 0 0 RPGRIP1L 23322 broad.mit.edu 37 16 53682940 53682940 + Missense_Mutation SNP C T T rs142349647 byFrequency TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr16:53682940C>T uc002ehp.3 - 15 2304 c.2240G>A c.(2239-2241)cGa>cAa p.R747Q RPGRIP1L_uc002eho.4_Missense_Mutation_p.R747Q|RPGRIP1L_uc010vgy.2_Missense_Mutation_p.R747Q|RPGRIP1L_uc010cbx.3_Missense_Mutation_p.R747Q|RPGRIP1L_uc010vgz.1_Missense_Mutation_p.R747Q NM_015272 NP_056087 Q68CZ1 FTM_HUMAN Homo sapiens RPGRIP1-like (RPGRIP1L), transcript variant 1, mRNA. 747 negative regulation of G-protein coupled receptor protein signaling pathway cell-cell junction|centrosome|cilium axoneme|microtubule basal body thromboxane A2 receptor binding endometrium(6)|kidney(3)|large_intestine(9)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(2) 46 all_cancers(37;0.0973) TGCCCTTTCTCGATAAAGTCG 0.408000 138 13 0 0 0.132662 0 0 COMMD1 150684 broad.mit.edu 37 2 62228057 62228057 + Silent SNP C T T TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr2:62228057C>T uc002sbp.3 + 1 413 c.402C>T c.(400-402)caC>caT p.H134H NM_152516 NP_689729 Q8N668 COMD1_HUMAN Homo sapiens copper metabolism (Murr1) domain containing 1 (COMMD1), mRNA. 134 COMM. copper ion homeostasis|negative regulation of NF-kappaB transcription factor activity|positive regulation of protein ubiquitination|regulation of proteasomal ubiquitin-dependent protein catabolic process Cul2-RING ubiquitin ligase complex|cell junction|cytoplasm|nucleolus copper ion binding|protein homodimerization activity large_intestine(1)|liver(2)|lung(5)|ovary(1) 9 Lung NSC(7;0.035)|all_lung(7;0.0691) LUSC - Lung squamous cell carcinoma(7;4.73e-07)|Epithelial(17;0.0216)|all cancers(80;0.0934) AGTCAAGGCACTCAGCTCAAA 0.458000 55 6 0 0 0.021553 0 0 COL7A1 1294 broad.mit.edu 37 3 48604435 48604435 + Missense_Mutation SNP A G G TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr3:48604435A>G uc003ctz.2 - 109 8132 c.8131T>C c.(8131-8133)Ttc>Ctc p.F2711L NM_000094 NP_000085 Q02388 CO7A1_HUMAN Homo sapiens collagen, type VII, alpha 1 (COL7A1), mRNA. 2711 Triple-helical region. cell adhesion|epidermis development basement membrane|collagen type VII protein binding|serine-type endopeptidase inhibitor activity NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5) 137 BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) GGGCCTGGGAAGCCCCCAATT 0.602000 23 6 0 0 0.047766 0 0 CAND1 55832 broad.mit.edu 37 12 67699410 67699411 + Missense_Mutation DNP CC TT TT TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr12:67699410_67699411CC>TT uc001stn.2 + 9 2399_2400 c.1962_1963CC>TT c.(1960-1965)atcctt>atTTtt p.L655F CAND1_uc001sto.2_Missense_Mutation_p.L165F NM_018448 NP_060918 Q86VP6 CAND1_HUMAN Homo sapiens cullin-associated and neddylation-dissociated 1 (CAND1), mRNA. 655 cell differentiation|negative regulation of catalytic activity|protein ubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|ubiquitin ligase complex protein binding NS(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1) 35 GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196) GBM - Glioblastoma multiforme(28;0.0279) GGGTTCCTATCCTTGCTTCATT 0.406000 104 11 0 0 0.115264 0 0 ACSM1 116285 broad.mit.edu 37 16 20681188 20681188 + Silent SNP G A A TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr16:20681188G>A uc002dhm.1 - 4 941 c.873C>T c.(871-873)atC>atT p.I291I ACSM1_uc002dhn.1_Non-coding_Transcript|ACSM1_uc010bwg.1_Silent_p.I291I NM_052956 NP_443188 Q08AH1 ACSM1_HUMAN Homo sapiens acyl-CoA synthetase medium-chain family member 1 (ACSM1), mRNA. 291 benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process mitochondrial matrix ATP binding|GTP binding|acyl-CoA ligase activity|butyrate-CoA ligase activity|metal ion binding central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2) 42 GCAGATGGTGGATAAAGACTG 0.478000 83 9 0 0 0.093190 0 0 AGR3 155465 broad.mit.edu 37 7 16901068 16901068 + Missense_Mutation SNP C T T TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr7:16901068C>T uc003sts.3 - 5 380 c.307G>A c.(307-309)Gaa>Aaa p.E103K NM_176813 NP_789783 Q8TD06 AGR3_HUMAN Homo sapiens anterior gradient 3 homolog (Xenopus laevis) (AGR3), mRNA. 103 extracellular region central_nervous_system(1)|kidney(8)|lung(2)|skin(1)|stomach(1) 13 Lung NSC(10;0.0376)|all_lung(11;0.0721)|all_epithelial(12;0.202) UCEC - Uterine corpus endometrioid carcinoma (126;0.184) TCAGTGGTTTCATGCTAGCAG 0.323000 129 17 0 0 0.033300 0 0 DEFB125 245938 broad.mit.edu 37 20 76694 76694 + Missense_Mutation SNP G A A TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr20:76694G>A uc002wcw.3 + 1 107 c.107G>A c.(106-108)aGa>aAa p.R36K NM_153325 NP_697020 Q8N687 DB125_HUMAN Homo sapiens defensin, beta 125 (DEFB125), mRNA. 36 defense response to bacterium extracellular region central_nervous_system(1)|large_intestine(1)|lung(7)|ovary(1)|skin(2) 12 all_cancers(10;7.65e-05)|Lung NSC(37;0.0417)|all_epithelial(17;0.0676)|all_lung(30;0.0713)|Breast(17;0.231) OV - Ovarian serous cystadenocarcinoma(29;0.156) GGACATTGCAGAAGACGATGT 0.348000 108 13 0 0 0.119110 0 0 KRT80 144501 broad.mit.edu 37 12 52574658 52574658 + Missense_Mutation SNP G A A TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr12:52574658G>A uc001rzw.3 - 1 461 c.410C>T c.(409-411)tCc>tTc p.S137F KRT80_uc001rzy.3_Intron|KRT80_uc001rzx.3_Intron NM_182507 NP_872313 Q6KB66 K2C80_HUMAN Homo sapiens keratin 80 (KRT80), transcript variant 1, mRNA. 290 Coil 1B.|Rod. keratin filament structural molecule activity endometrium(2)|large_intestine(2)|lung(1) 5 BRCA - Breast invasive adenocarcinoma(357;0.108) CATGAGGAAGGAGCCCCTGGG 0.562000 27 6 0 0 0.029380 0 0 SFTA2 389376 broad.mit.edu 37 6 30899540 30899541 + Nonsense_Mutation DNP CC AG AG TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr6:30899540_30899541CC>AG uc003nsf.3 - 1 172_173 c.93_94GG>CT c.(91-96)aaggag>aaCTag p.31_32KE>N* NM_205854 NP_995326 Q6UW10 SFTA2_HUMAN Homo sapiens surfactant associated 2 (SFTA2), mRNA. 31 extracellular region lung(2) 2 AGAAAAGACTCCTTCAGCTTCA 0.500000 80 16 0 0 0.115264 0 0 COL4A4 1286 broad.mit.edu 37 2 227920757 227920757 + Missense_Mutation SNP G A A TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr2:227920757G>A uc021vxr.1 - 28 2721 c.2620C>T c.(2620-2622)Ctc>Ttc p.L874F COL4A4_uc021vxs.1_Missense_Mutation_p.L874F NM_000092 NP_000083 P53420 CO4A4_HUMAN Homo sapiens collagen, type IV, alpha 4 (COL4A4), mRNA. 874 Triple-helical region. axon guidance|glomerular basement membrane development basal lamina|collagen type IV extracellular matrix structural constituent|protein binding breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 98 Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242) Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181) CGTCCTGGGAGTCCGGGGAGG 0.632000 33 6 0 0 0.021553 0 0 IFIT2 3433 broad.mit.edu 37 10 91066196 91066196 + Missense_Mutation SNP T A A TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr10:91066196T>A uc009xts.3 + 1 658 c.483T>A c.(481-483)ttT>ttA p.F161L LIPA_uc001kgb.4_Intron|LIPA_uc001kgc.4_Intron|BC040833_uc001kgd.3_Intron NM_001547 NP_001538 P09913 IFIT2_HUMAN Homo sapiens interferon-induced protein with tetratricopeptide repeats 2 (IFIT2), mRNA. 161 negative regulation of protein binding|response to virus|type I interferon-mediated signaling pathway protein binding endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|skin(1) 12 Colorectal(252;0.0161) AGGTGTGCTTTGAGAAGGCTC 0.498000 40 5 0 0 0.014758 0 0 WDR62 284403 broad.mit.edu 37 19 36594428 36594429 + Missense_Mutation DNP CC TT TT TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr19:36594428_36594429CC>TT uc002odd.2 + 29 3789_3790 c.3698_3699CC>TT c.(3697-3699)tcc>tTT p.S1233F WDR62_uc002odc.2_Missense_Mutation_p.S1228F NM_001083961 NP_001077430 O43379 WDR62_HUMAN Homo sapiens WD repeat domain 62 (WDR62), transcript variant 1, mRNA. 1228 cerebral cortex development nucleus cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3) 43 Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.06) CGCAGCATCTCCCTCGGTGACA 0.668000 67 8 0 0 0.115264 0 0 MUT 4594 broad.mit.edu 37 6 49399535 49399535 + Missense_Mutation SNP T C C TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr6:49399535T>C uc003ozg.4 - 12 2424 c.2159A>G c.(2158-2160)aAt>aGt p.N720S NM_000255 NP_000246 P22033 MUTA_HUMAN Homo sapiens methylmalonyl CoA mutase (MUT), nuclear gene encoding mitochondrial protein, mRNA. 720 B12-binding. fatty acid beta-oxidation mitochondrial matrix cobalamin binding|metal ion binding|methylmalonyl-CoA mutase activity endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 30 Lung NSC(77;0.0376) Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) ACCAAATACATTGGAAACACC 0.363000 238 4 0 0 0.029380 0 0 PCNX 22990 broad.mit.edu 37 14 71485730 71485730 + Missense_Mutation SNP C T T TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr14:71485730C>T uc001xmo.2 + 11 3447 c.3001C>T c.(3001-3003)Cgt>Tgt p.R1001C PCNX_uc010are.1_Missense_Mutation_p.R890C|PCNX_uc010arf.1_5'UTR NM_014982 NP_055797 Q96RV3 PCX1_HUMAN Homo sapiens pecanex homolog (Drosophila) (PCNX), mRNA. 1001 integral to membrane NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1) 87 KIRC - Kidney renal clear cell carcinoma(12;0.206) all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417) CCGTAGAAATCGTGAGATCCT 0.368000 82 12 0 0 0.105934 0 0 SHROOM3 57619 broad.mit.edu 37 4 77691817 77691817 + Silent SNP C T T TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr4:77691817C>T uc011cbx.2 + 9 6341 c.5388C>T c.(5386-5388)acC>acT p.T1796T SHROOM3_uc003hkg.3_Silent_p.T1574T NM_020859 NP_065910 Q8TF72 SHRM3_HUMAN Homo sapiens shroom family member 3 (SHROOM3), mRNA. 1796 ASD2. 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) AGCTGGAGACCCTCCAGGAGG 0.567000 46 3 0 0 0.115264 0 0 PCDHB12 56124 broad.mit.edu 37 5 140588661 140588661 + Missense_Mutation SNP C T T TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr5:140588661C>T uc003liz.3 + 0 371 c.182C>T c.(181-183)tCg>tTg p.S61L PCDHB12_uc011dak.2_Intron NM_018932 NP_061755 Q9Y5F1 PCDBC_HUMAN Homo sapiens protocadherin beta 12 (PCDHB12), mRNA. 61 Cadherin 1. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding p.S61S(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) GAGCTGTCTTCGCGGGGGGCT 0.507000 115 8 0 0 0.069234 0 0 UQCC 55245 broad.mit.edu 37 20 33961986 33961986 + Splice_Site SNP C T T TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr20:33961986C>T uc002xcd.3 - 5 585 c.406_splice c.e5+1 p.R136_splice UQCC_uc010zuy.2_Splice_Site_p.R37_splice|UQCC_uc021wcl.1_Intron|UQCC_uc010zva.2_Intron|UQCC_uc010gfb.3_Splice_Site_p.R136_splice|UQCC_uc010zvb.2_Splice_Site_p.R68_splice|UQCC_uc002xcg.3_Intron|UQCC_uc002xcf.3_Intron|UQCC_uc010zuz.2_Intron|GDF5_uc010gfc.1_Intron|UQCC_uc002xci.1_Splice_Site_p.R90_splice|UQCC_uc010gfd.2_Splice_Site_p.R122_splice NM_018244 NP_060714 Q9NVA1 UQCC_HUMAN Homo sapiens ubiquinol-cytochrome c reductase complex chaperone (UQCC), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 136 LR -> MG (in Ref. 2; BAB14217). cytoplasmic membrane-bounded vesicle breast(2)|endometrium(2)|large_intestine(4)|lung(7)|skin(1)|urinary_tract(1) 17 BRCA - Breast invasive adenocarcinoma(18;0.00252) CAATAACTTACTTAGAAAGAA 0.343000 84 4 0 0 0.009096 0 0 GRID1 2894 broad.mit.edu 37 10 87482861 87482861 + Silent SNP G A A TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr10:87482861G>A uc001kdl.1 - 11 1997 c.1896C>T c.(1894-1896)atC>atT p.I632I GRID1_uc009xsu.1_Non-coding_Transcript|GRID1_uc010qmf.1_Silent_p.I203I NM_017551 NP_060021 Q9ULK0 GRID1_HUMAN Homo sapiens glutamate receptor, ionotropic, delta 1 (GRID1), mRNA. 632 cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity p.R631H(1)|p.R631S(1)|p.R631C(1) NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5) 106 L-Glutamic Acid(DB00142) TGCCCATCACGATGCGCATGG 0.582000 Multiple Myeloma(13;0.14) 33 5 0 0 0.014758 0 0 HEATR5B 54497 broad.mit.edu 37 2 37267538 37267538 + Missense_Mutation SNP C T T TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr2:37267538C>T uc002rpp.1 - 19 3076 c.2980G>A c.(2980-2982)Gaa>Aaa p.E994K NM_019024 NP_061897 Q9P2D3 HTR5B_HUMAN Homo sapiens HEAT repeat containing 5B (HEATR5B), mRNA. 994 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) TGATGAACTTCTGTATGTGAA 0.413000 106 6 0 0 0.029380 0 0 ACE 1636 broad.mit.edu 37 17 61557804 61557804 + Silent SNP C T T TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr17:61557804C>T uc002jau.2 + 4 796 c.762C>T c.(760-762)ctC>ctT p.L254L ACE_uc010wpi.2_Silent_p.L254L|ACE_uc010ddu.2_Silent_p.L71L NM_000789 NP_000780 P12821 ACE_HUMAN Homo sapiens angiotensin I converting enzyme (peptidyl-dipeptidase A) 1 (ACE), transcript variant 1, mRNA. 254 Peptidase M2 1. arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 51 Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519) ACCTGAACCTCCATGCCTTCG 0.607000 107 13 0 0 0.132662 0 0 GRID1 2894 broad.mit.edu 37 10 87628917 87628917 + Silent SNP G A A TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr10:87628917G>A uc001kdl.1 - 5 902 c.801C>T c.(799-801)atC>atT p.I267I GRID1_uc009xsu.1_Non-coding_Transcript NM_017551 NP_060021 Q9ULK0 GRID1_HUMAN Homo sapiens glutamate receptor, ionotropic, delta 1 (GRID1), mRNA. 267 cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity p.I267T(1) NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5) 106 L-Glutamic Acid(DB00142) CCAGATCCAGGATCTCCGGGT 0.507000 Multiple Myeloma(13;0.14) 100 14 0 0 0.033300 0 0 ZMIZ2 83637 broad.mit.edu 37 7 44805124 44805124 + Missense_Mutation SNP T C C TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr7:44805124T>C uc003tlr.3 + 15 2311 c.2188T>C c.(2188-2190)Ttt>Ctt p.F730L ZMIZ2_uc003tlq.3_Missense_Mutation_p.F672L|ZMIZ2_uc003tls.3_Missense_Mutation_p.F704L|ZMIZ2_uc003tlt.3_Missense_Mutation_p.F353L|ZMIZ2_uc010kyj.3_Missense_Mutation_p.F252L|ZMIZ2_uc003tlu.3_5'Flank NM_031449 NP_113637 Q8NF64 ZMIZ2_HUMAN Homo sapiens zinc finger, MIZ-type containing 2 (ZMIZ2), transcript variant 1, mRNA. 730 Pro-rich. positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear replication fork ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding p.P729>?(1) breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 CGCTGCCCCCTTTGCCCCCCT 0.687000 19 4 0 0 0.029380 0 0 FAM46C 54855 broad.mit.edu 37 1 118166042 118166042 + Silent SNP C T T TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr1:118166042C>T uc021osq.1 + 0 552 c.552C>T c.(550-552)ttC>ttT p.F184F FAM46C_uc001ehe.3_Silent_p.F184F NM_017709 NP_060179 Q5VWP2 FA46C_HUMAN Homo sapiens family with sequence similarity 46, member C (FAM46C), mRNA. 184 endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1) 15 Lung SC(450;0.225) all_cancers(81;0.000101)|all_lung(203;3.4e-06)|all_epithelial(167;4.98e-06)|Lung NSC(69;2.33e-05) Lung(183;0.0576)|LUSC - Lung squamous cell carcinoma(189;0.192)|Colorectal(144;0.247) TGGACTCTTTCCAAATCATCC 0.502000 """Mis, F, O""" MM Multiple Myeloma(3;1.13e-06) 129 15 0 0 0.146539 0 0 SIK3 23387 broad.mit.edu 37 11 116729109 116729110 + Missense_Mutation DNP CC TT TT TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr11:116729109_116729110CC>TT uc001ppy.3 - 19 2789_2790 c.2753_2754GG>AA c.(2752-2754)cgg>cAA p.R918Q SIK3_uc001ppz.3_Missense_Mutation_p.R757Q|SIK3_uc001pqa.3_Missense_Mutation_p.R858Q|SIK3_uc001ppw.3_Missense_Mutation_p.R275Q|SIK3_uc001ppx.3_Missense_Mutation_p.R296Q|SIK3_uc001pqb.3_Missense_Mutation_p.R221Q NM_025164 NP_079440 Q9Y2K2 SIK3_HUMAN Homo sapiens SIK family kinase 3 (SIK3), mRNA. 918 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 TGAGCGAATGCCGGGGAGAAAG 0.599000 84 8 0 0 0.115264 0 0 DNAH3 55567 broad.mit.edu 37 16 21069510 21069510 + Missense_Mutation SNP C T T TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr16:21069510C>T uc010vbe.2 - 26 3821 c.3821G>A c.(3820-3822)cGa>cAa p.R1274Q NM_017539 NP_060009 Q8TD57 DYH3_HUMAN Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA. 1274 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6) 202 GBM - Glioblastoma multiforme(48;0.207) CCAGTGATTTCGAGGGACCTG 0.507000 37 4 0 0 0.009096 0 0 SLC39A3 29985 broad.mit.edu 37 19 2733194 2733194 + Missense_Mutation SNP G A A TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr19:2733194G>A uc010xgy.1 - 2 754 c.500C>T c.(499-501)cCc>cTc p.P167L SLC39A3_uc002lwg.3_Missense_Mutation_p.P167L NM_144564 NP_653165 Q9BRY0 S39A3_HUMAN Homo sapiens solute carrier family 39 (zinc transporter), member 3 (SLC39A3), transcript variant 1, mRNA. 167 integral to membrane|plasma membrane zinc ion transmembrane transporter activity endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 10 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CAGGCGCACGGGGCTGGCGCG 0.741000 28 8 0 0 0.038147 0 0 TLR1 7096 broad.mit.edu 37 4 38798510 38798510 + Missense_Mutation SNP G A A TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr4:38798510G>A uc003gtl.3 - 3 2217 c.1943C>T c.(1942-1944)tCt>tTt p.S648F TLR1_uc021xnn.1_Missense_Mutation_p.S648F NM_003263 NP_003254 Q15399 TLR1_HUMAN Homo sapiens toll-like receptor 1 (TLR1), mRNA. 648 TIR. cellular response to triacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|inflammatory response|innate immune response|macrophage activation|positive regulation of interleukin-6 biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process Toll-like receptor 1-Toll-like receptor 2 protein complex|integral to plasma membrane|phagocytic vesicle membrane protein heterodimerization activity|transmembrane receptor activity p.D647N(1) cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(2) 28 CACCCAGAAAGAATCGTGCCC 0.443000 96 14 0 0 0.132662 0 0 PRG4 10216 broad.mit.edu 37 1 186277995 186277995 + Silent SNP G A A TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr1:186277995G>A uc001gru.4 + 6 3195 c.3144G>A c.(3142-3144)acG>acA p.T1048T MIR548F1_uc021pgf.1_Intron|PRG4_uc001grt.4_Silent_p.T1007T|PRG4_uc009wyl.3_Silent_p.T955T|PRG4_uc009wym.3_Silent_p.T914T|PRG4_uc010poo.2_Non-coding_Transcript NM_005807 NP_005798 Q92954 PRG4_HUMAN Homo sapiens proteoglycan 4 (PRG4), transcript variant A, mRNA. 1048 cell proliferation|immune response extracellular region polysaccharide binding|protein binding|scavenger receptor activity p.T1048T(2) NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1) 102 AACCAAAGACGACACCAACTC 0.453000 71 15 0 0 0.132662 0 0 NAV2 89797 broad.mit.edu 37 11 19914094 19914094 + Silent SNP C T T TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr11:19914094C>T uc010rdm.2 + 6 1315 c.954C>T c.(952-954)tcC>tcT p.S318S NAV2_uc001mpp.3_Silent_p.S231S|NAV2_uc001mpr.4_Silent_p.S295S|NAV2_uc021qew.1_Silent_p.S295S NM_001244963 NP_001231892 Q8IVL1 NAV2_HUMAN Homo sapiens neuron navigator 2 (NAV2), transcript variant 5, mRNA. 318 nucleus ATP binding|helicase activity NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 116 ATGATAAATCCAAACCAGTCA 0.542000 46 7 0 0 0.038147 0 0 PHACTR3 116154 broad.mit.edu 37 20 58416519 58416519 + Missense_Mutation SNP G A A TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr20:58416519G>A uc002yau.3 + 10 1983 c.1516G>A c.(1516-1518)Gaa>Aaa p.E506K PHACTR3_uc002yat.3_Missense_Mutation_p.E503K|PHACTR3_uc010zzw.2_Missense_Mutation_p.E465K|PHACTR3_uc002yav.3_Missense_Mutation_p.E465K|PHACTR3_uc002yaw.3_Missense_Mutation_p.E465K|PHACTR3_uc002yax.3_Missense_Mutation_p.E395K|PHACTR3_uc002yay.3_Missense_Mutation_p.E75K NM_080672 NP_899067 Q96KR7 PHAR3_HUMAN Homo sapiens phosphatase and actin regulator 3 (PHACTR3), transcript variant 1, mRNA. 506 Required for PP1CA binding and inhibition of PP1 activity. nuclear matrix actin binding|protein phosphatase inhibitor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|liver(2)|lung(32)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 59 all_lung(29;0.00344) BRCA - Breast invasive adenocarcinoma(7;2.76e-09) TGATTACGTGGAAGTAGCAAA 0.438000 46 13 0 0 0.132662 0 0 CLEC4G 339390 broad.mit.edu 37 19 7794311 7794311 + Missense_Mutation SNP C T T TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr19:7794311C>T uc002mhp.4 - 8 892 c.823G>A c.(823-825)Gac>Aac p.D275N CLEC4G_uc021uny.1_Missense_Mutation_p.D263N NM_198492 NP_940894 Q6UXB4 CLC4G_HUMAN Homo sapiens C-type lectin domain family 4, member G (CLEC4G), transcript variant 1, mRNA. 275 C-type lectin. integral to membrane protein binding|sugar binding breast(1)|cervix(2)|endometrium(1)|large_intestine(1)|lung(1) 6 CACGGTGCGTCGTTCCACAGC 0.632000 50 7 0 0 0.029380 0 0 ANO5 203859 broad.mit.edu 37 11 22249077 22249077 + Missense_Mutation SNP T G G TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr11:22249077T>G uc001mqi.2 + 6 910 c.593T>G c.(592-594)cTc>cGc p.L198R ANO5_uc001mqj.2_Missense_Mutation_p.L197R NM_213599 NP_998764 Q75V66 ANO5_HUMAN Homo sapiens anoctamin 5 (ANO5), transcript variant 1, mRNA. 198 chloride channel complex|endoplasmic reticulum membrane chloride channel activity breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 CGGCAGGAGCTCTTCCTCATC 0.453000 93 12 0 0 0.093190 0 0 GDPD5 81544 broad.mit.edu 37 11 75160936 75160936 + Silent SNP G A A TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr11:75160936G>A uc001owo.4 - 7 1005 c.468C>T c.(466-468)tcC>tcT p.S156S GDPD5_uc001owp.4_Silent_p.S156S|GDPD5_uc001own.4_5'UTR|GDPD5_uc009yuc.3_Silent_p.S18S|GDPD5_uc009yud.3_Intron|GDPD5_uc009yue.1_Intron NM_030792 NP_110419 Q8WTR4 GDPD5_HUMAN Homo sapiens glycerophosphodiester phosphodiesterase domain containing 5 (GDPD5), mRNA. 156 glycerol metabolic process|lipid metabolic process|nervous system development endomembrane system|growth cone|integral to membrane|perinuclear region of cytoplasm glycerophosphodiester phosphodiesterase activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|skin(2) 20 TCACCTGCAGGGAGATCAGCA 0.637000 54 3 0 0 0.009096 0 0 SMC1B 27127 broad.mit.edu 37 22 45798252 45798252 + Missense_Mutation SNP A C C TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr22:45798252A>C uc003bgc.3 - 4 867 c.815T>G c.(814-816)aTg>aGg p.M272R SMC1B_uc003bgd.3_Missense_Mutation_p.M272R|SMC1B_uc003bge.1_Missense_Mutation_p.M55R NM_148674 NP_683515 Q8NDV3 SMC1B_HUMAN Homo sapiens structural maintenance of chromosomes 1B (SMC1B), mRNA. 272 chromosome organization|meiosis chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nucleus ATP binding breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 37 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.0182) TCTAGTTAGCATTCCATGTTC 0.328000 65 5 0 0 0.014758 0 0 TUSC5 286753 broad.mit.edu 37 17 1183460 1183460 + Silent SNP G A A TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr17:1183460G>A uc002fsi.1 + 0 504 c.165G>A c.(163-165)caG>caA p.Q55Q NM_172367 NP_758955 Q8IXB3 TUSC5_HUMAN Homo sapiens tumor suppressor candidate 5 (TUSC5), mRNA. 55 response to biotic stimulus integral to membrane endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|prostate(4)|skin(2) 15 UCEC - Uterine corpus endometrioid carcinoma (25;0.0822) ATCTGGAGCAGAACAGCCAGG 0.632000 68 7 0 0 0.038147 0 0 F13B 2165 broad.mit.edu 37 1 197019883 197019883 + Missense_Mutation SNP C T T TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr1:197019883C>T uc001gtt.1 - 9 1726 c.1682G>A c.(1681-1683)gGa>gAa p.G561E NM_001994 NP_001985 P05160 F13B_HUMAN Homo sapiens coagulation factor XIII, B polypeptide (F13B), mRNA. 561 Sushi 9. blood coagulation extracellular region p.G561V(2) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3) 66 CTCCCTAGATCCTTCTAGGAA 0.353000 42 8 0 0 0.058154 0 0 DCST1 149095 broad.mit.edu 37 1 155007182 155007182 + Missense_Mutation SNP A G G TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr1:155007182A>G uc001fgn.2 + 3 355 c.241A>G c.(241-243)Atg>Gtg p.M81V DCST2_uc001fgm.3_5'Flank|DCST2_uc009wpb.3_5'Flank|DCST1_uc010per.2_Missense_Mutation_p.M106V|DCST1_uc010pes.2_Intron NM_152494 NP_689707 Q5T197 DCST1_HUMAN Homo sapiens DC-STAMP domain containing 1 (DCST1), transcript variant 1, mRNA. 81 integral to membrane zinc ion binding breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 27 all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) BRCA - Breast invasive adenocarcinoma(34;0.000434) ACAGAAGATTATGTTCTTGTA 0.537000 84 10 0 0 0.119110 0 0 SLCO3A1 28232 broad.mit.edu 37 15 92647683 92647683 + Missense_Mutation SNP G A A TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr15:92647683G>A uc002bqx.2 + 3 1121 c.920G>A c.(919-921)aGa>aAa p.R307K SLCO3A1_uc002bqy.2_Missense_Mutation_p.R307K|SLCO3A1_uc010boc.1_Non-coding_Transcript|SLCO3A1_uc002bqz.1_Missense_Mutation_p.R249K NM_013272 NP_037404 Q9UIG8 SO3A1_HUMAN Homo sapiens solute carrier organic anion transporter family, member 3A1 (SLCO3A1), transcript variant 1, mRNA. 307 sodium-independent organic anion transport integral to membrane|plasma membrane sodium-independent organic anion transmembrane transporter activity breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2) 25 Lung NSC(78;0.0158)|all_lung(78;0.0255) BRCA - Breast invasive adenocarcinoma(143;0.0841) CTCTCCGAAAGAGAATACGAG 0.587000 37 5 0 0 0.014758 0 0 PAPPA2 60676 broad.mit.edu 37 1 176734924 176734924 + Missense_Mutation SNP G A A TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr1:176734924G>A uc001gkz.3 + 14 5438 c.4274G>A c.(4273-4275)aGg>aAg p.R1425K PAPPA2_uc009www.3_Non-coding_Transcript NM_020318 NP_064714 Q9BXP8 PAPP2_HUMAN Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA. 1425 Sushi 1. cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1) 226 ACTTGTCAAAGGGGATTTGCC 0.522000 88 12 0 0 0.105934 0 0 AP5Z1 9907 broad.mit.edu 37 7 4815384 4815384 + Missense_Mutation SNP C T T TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr7:4815384C>T uc003sne.3 + 0 123 c.38C>T c.(37-39)gCc>gTc p.A13V AP5Z1_uc010ksp.3_Non-coding_Transcript NM_014855 NP_055670 O43299 K0415_HUMAN Homo sapiens KIAA0415 (KIAA0415), mRNA. 13 cell death|double-strand break repair via homologous recombination cytoplasm|nucleus protein binding CTCCACCAGGCCAGGTACGGG 0.692000 18 4 0 0 0.014758 0 0 ATP12A 479 broad.mit.edu 37 13 25255747 25255747 + Silent SNP C T T TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr13:25255747C>T uc010aaa.3 + 1 390 c.57C>T c.(55-57)atC>atT p.I19I ATP12A_uc001upp.3_Silent_p.I19I NM_001185085 NP_001172014 P54707 AT12A_HUMAN Homo sapiens ATPase, H+/K+ transporting, nongastric, alpha polypeptide (ATP12A), transcript variant 1, mRNA. 19 ATP biosynthetic process hydrogen:potassium-exchanging ATPase complex ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5) 74 Lung SC(185;0.0225)|Breast(139;0.077) all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228) Esomeprazole(DB00736)|Pantoprazole(DB00213) CTAAGGACATCGTGAAAACAG 0.468000 74 7 0 0 0.029380 0 0 ENC1 8507 broad.mit.edu 37 5 73932233 73932233 + Silent SNP G A A TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr5:73932233G>A uc003kdc.4 - 1 1209 c.78C>T c.(76-78)tcC>tcT p.S26S ENC1_uc011css.2_Intron|ENC1_uc021yao.1_Silent_p.S26S NM_003633 NP_003624 O14682 ENC1_HUMAN Homo sapiens ectodermal-neural cortex 1 (with BTB-like domain) (ENC1), mRNA. 26 nervous system development cytoplasm|cytoskeleton|nuclear matrix actin binding breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 20 all_lung(232;0.0154)|Lung NSC(167;0.0331)|Ovarian(174;0.0798) OV - Ovarian serous cystadenocarcinoma(47;1.45e-59) CAGCGTAGGAGGACTTGTGAA 0.502000 41 9 0 0 0.058154 0 0 CCDC41 51134 broad.mit.edu 37 12 94806245 94806245 + Missense_Mutation SNP C G G TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr12:94806245C>G uc001tdd.3 - 2 608 c.22G>C c.(22-24)Gat>Cat p.D8H CCDC41_uc001tde.3_Missense_Mutation_p.D8H|CCDC41_uc009zsw.1_Intron|CCDC41_uc001tdf.3_Missense_Mutation_p.D8H NM_016122 NP_057206 Q9Y592 CCD41_HUMAN Homo sapiens coiled-coil domain containing 41 (CCDC41), transcript variant 1, mRNA. 0 breast(1)|central_nervous_system(3)|kidney(3)|large_intestine(8)|lung(8)|prostate(2)|skin(2) 27 GTGTCCATATCGGTAAATGTG 0.393000 79 9 0 0 0.058154 0 0 SCN11A 11280 broad.mit.edu 37 3 38936084 38936084 + Missense_Mutation SNP G T T rs140576269 by1000genomes TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr3:38936084G>T uc021wvy.1 - 14 2974 c.2775C>A c.(2773-2775)gaC>gaA p.D925E SCN11A_uc010hhn.1_Missense_Mutation_p.D41E NM_014139 NP_054858 Q9UI33 SCNBA_HUMAN Homo sapiens sodium channel, voltage-gated, type XI, alpha subunit (SCN11A), mRNA. 925 response to drug voltage-gated sodium channel complex voltage-gated sodium channel activity NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3) 119 Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226) Cocaine(DB00907) AAAATTCAACGTCATCTTCCT 0.483000 166 37 3.61848e-18 3.75727e-18 0.098360 1 0 CACHD1 57685 broad.mit.edu 37 1 65142646 65142646 + Missense_Mutation SNP C T T TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr1:65142646C>T uc001dbo.1 + 21 2996 c.2891C>T c.(2890-2892)gCt>gTt p.A964V CACHD1_uc001dbp.1_Missense_Mutation_p.A719V|CACHD1_uc001dbq.1_Missense_Mutation_p.A719V|CACHD1_uc010opa.1_Missense_Mutation_p.A208V NM_020925 NP_065976 Q5VU97 CAHD1_HUMAN Homo sapiens cache domain containing 1 (CACHD1), mRNA. 1015 Cys-rich. calcium ion transport integral to membrane breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 CTGCAAGATGCTCTTCACCAG 0.493000 86 16 0 0 0.038395 0 0 SLC18A1 6570 broad.mit.edu 37 8 20005148 20005148 + Silent SNP G A A TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr8:20005148G>A uc011kyq.2 - 14 1767 c.1296C>T c.(1294-1296)atC>atT p.I432I SLC18A1_uc003wzm.3_Silent_p.I432I|SLC18A1_uc011kyr.2_Silent_p.I432I|SLC18A1_uc003wzn.3_Silent_p.I400I|SLC18A1_uc010ltf.3_Non-coding_Transcript NM_001135691 NP_003044 P54219 VMAT1_HUMAN Homo sapiens solute carrier family 18 (vesicular monoamine), member 1 (SLC18A1), transcript variant 1, mRNA. 432 neurotransmitter transport clathrin sculpted monoamine transport vesicle membrane|integral to membrane|membrane fraction drug transmembrane transporter activity|monoamine transmembrane transporter activity central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1) 29 Colorectal(74;0.0747) CCACATCAGCGATGGCGTAGA 0.547000 41 3 0 0 0.115264 0 0 BRD3 8019 broad.mit.edu 37 9 136915577 136915577 + Silent SNP G A A TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr9:136915577G>A uc004cew.3 - 4 821 c.633C>T c.(631-633)gtC>gtT p.V211V BRD3_uc004cex.2_Silent_p.V211V NM_007371 NP_031397 Q15059 BRD3_HUMAN Homo sapiens bromodomain containing 3 (BRD3), mRNA. 211 nucleus protein binding BRD3/C15orf55(3) kidney(1)|skin(1)|stomach(4) 6 OV - Ovarian serous cystadenocarcinoma(145;1.43e-08)|Epithelial(140;8.41e-08)|all cancers(34;5.21e-07) GGGGGACTGGGACCGACGTGA 0.687000 T C15orf55 lethal midline carcinoma of young people 108 13 0 0 0.132662 0 0 PDE5A 8654 broad.mit.edu 37 4 120463730 120463730 + Nonsense_Mutation SNP G A A TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr4:120463730G>A uc003idh.3 - 9 1611 c.1456C>T c.(1456-1458)Cga>Tga p.R486* PDE5A_uc003idf.3_Nonsense_Mutation_p.R444*|PDE5A_uc003idg.3_Nonsense_Mutation_p.R434*|AF085995_uc003idi.4_Intron NM_001083 NP_246273 O76074 PDE5A_HUMAN Homo sapiens phosphodiesterase 5A, cGMP-specific (PDE5A), transcript variant 1, mRNA. 486 GAF 2. platelet activation|signal transduction cytosol 3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|zinc ion binding p.R486Q(1) breast(4)|endometrium(2)|kidney(3)|large_intestine(8)|lung(7)|prostate(1)|skin(1)|urinary_tract(1) 27 Dipyridamole(DB00975)|Pentoxifylline(DB00806)|Sildenafil(DB00203)|Tadalafil(DB00820)|Theophylline(DB00277)|Vardenafil(DB00862) TCGTCATTTCGGTTGAAAGGC 0.428000 68 5 0 0 0.014758 0 0 SFMBT1 51460 broad.mit.edu 37 3 52939188 52939188 + Missense_Mutation SNP C A A TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr3:52939188C>A uc003dgf.3 - 21 3188 c.2565G>T c.(2563-2565)agG>agT p.R855S SFMBT1_uc010hmr.3_Missense_Mutation_p.R759S|SFMBT1_uc003dgg.3_Missense_Mutation_p.R855S|SFMBT1_uc003dgh.3_Missense_Mutation_p.R855S NM_001005159 NP_057413 Q9UHJ3 SMBT1_HUMAN Homo sapiens Scm-like with four mbt domains 1 (SFMBT1), transcript variant 1, mRNA. 855 SAM. regulation of transcription, DNA-dependent nucleus breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 24 BRCA - Breast invasive adenocarcinoma(193;9.91e-05)|Kidney(197;0.000644)|KIRC - Kidney renal clear cell carcinoma(197;0.000792)|OV - Ovarian serous cystadenocarcinoma(275;0.113) CAAACTTGATCCTCTCTATGT 0.458000 89 4 0.014758 0.0149553 0.014758 1 0 PHF21B 112885 broad.mit.edu 37 22 45278977 45278978 + Missense_Mutation DNP CC TT TT TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr22:45278977_45278978CC>TT uc003bfn.3 - 12 1735_1736 c.1584_1585GG>AA c.(1582-1587)cagggc>caAAgc p.G529S PHF21B_uc011aqk.2_Missense_Mutation_p.G475S|PHF21B_uc003bfm.3_Missense_Mutation_p.G325S|PHF21B_uc011aql.2_Missense_Mutation_p.G487S NM_138415 NP_612424 Q96EK2 PF21B_HUMAN Homo sapiens PHD finger protein 21B (PHF21B), transcript variant 1, mRNA. 529 zinc ion binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(14)|ovary(2)|prostate(1)|skin(2) 25 all_neural(38;0.00802)|Glioma(61;0.0353)|Ovarian(80;0.0731) UCEC - Uterine corpus endometrioid carcinoma (28;0.0203) CAGTTGTGGCCCTGGGGGTGCT 0.614000 172 20 0 0 0.115264 0 0 CDH12 1010 broad.mit.edu 37 5 21975370 21975370 + Missense_Mutation SNP C T T TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr5:21975370C>T uc010iuc.2 - 2 814 c.356G>A c.(355-357)aGa>aAa p.R119K CDH12_uc011cno.1_Missense_Mutation_p.R119K|CDH12_uc003jgk.2_Missense_Mutation_p.R119K NM_004061 NP_004052 P55289 CAD12_HUMAN Homo sapiens cadherin 12, type 2 (N-cadherin 2) (CDH12), mRNA. 119 Cadherin 1. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 120 TTTCTCTTCTCTATCTAGGCT 0.478000 HNSCC(59;0.17) 62 11 0 0 0.093190 0 0 GTF3C1 2975 broad.mit.edu 37 16 27476016 27476016 + Nonsense_Mutation SNP G A A TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr16:27476016G>A uc002dov.2 - 33 5537 c.5497C>T c.(5497-5499)Cag>Tag p.Q1833* GTF3C1_uc002dou.3_Nonsense_Mutation_p.Q1833* NM_001520 NP_001511 Q12789 TF3C1_HUMAN Homo sapiens general transcription factor IIIC, polypeptide 1, alpha 220kDa (GTF3C1), mRNA. 1833 transcription factor TFIIIC complex DNA binding|protein binding breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2) 80 GGTCTGGCCTGGGGGTCTTCT 0.682000 44 3 0 0 0.115264 0 0 GPR155 151556 broad.mit.edu 37 2 175346399 175346399 + Missense_Mutation SNP A C C TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr2:175346399A>C uc002uit.3 - 2 677 c.286T>G c.(286-288)Tcc>Gcc p.S96A GPR155_uc002uiu.3_Missense_Mutation_p.S96A|GPR155_uc002uiv.3_Missense_Mutation_p.S96A|GPR155_uc010fqs.3_Missense_Mutation_p.S96A NM_001033045 NP_689742 Q7Z3F1 GP155_HUMAN Homo sapiens G protein-coupled receptor 155 (GPR155), transcript variant 9, mRNA. 96 intracellular signal transduction|transmembrane transport integral to membrane breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2) 26 TCCACATTGGAAAAATTAAGT 0.358000 117 7 0 0 0.080935 0 0 AFP 174 broad.mit.edu 37 4 74313303 74313303 + Missense_Mutation SNP C T T TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr4:74313303C>T uc003hgz.1 + 7 1015 c.968C>T c.(967-969)cCt>cTt p.P323L AFP_uc011cbg.1_Missense_Mutation_p.P97L NM_001134 NP_001125 P02771 FETA_HUMAN Homo sapiens alpha-fetoprotein (AFP), mRNA. 323 Albumin 2. transport metal ion binding breast(1)|endometrium(2)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|urinary_tract(1) 22 Breast(15;0.00102) Epithelial(6;2.42e-05)|all cancers(17;0.000268)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) GATGAAAAACCTGAAGGTCTA 0.363000 Alpha-Fetoprotein, Hereditary Persistence of 43 3 0 0 0.009096 0 0 VPREB1 7441 broad.mit.edu 37 22 22599458 22599458 + Silent SNP C T T TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr22:22599458C>T uc002zvx.1 + 1 173 c.147C>T c.(145-147)atC>atT p.I49I abParts_uc021wml.1_Intron NM_007128 NP_009059 P12018 VPREB_HUMAN Homo sapiens pre-B lymphocyte 1 (VPREB1), mRNA. 49 Complementarity-determining-1.|Ig-like V-type. immune response extracellular region antigen binding|protein binding large_intestine(1)|liver(1)|lung(6)|skin(1) 9 all_hematologic(9;0.0312)|Acute lymphoblastic leukemia(84;0.155) all_cancers(3;3.14e-14)|Acute lymphoblastic leukemia(3;2.97e-57)|all_hematologic(3;5.9e-52) READ - Rectum adenocarcinoma(21;0.145) ACCATGACATCGGTGTGTACA 0.617000 109 19 0 0 0.069288 0 0 MUC16 94025 broad.mit.edu 37 19 9056625 9056625 + Missense_Mutation SNP G A A TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr19:9056625G>A uc002mkp.3 - 2 31025 c.30821C>T c.(30820-30822)tCc>tTc p.S10274F NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 10276 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 TGTGCCAGTGGAAATAGTCTC 0.473000 65 10 0 0 0.058154 0 0 TMEM5 10329 broad.mit.edu 37 12 64202701 64202701 + Silent SNP G A A TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr12:64202701G>A uc001srq.1 + 5 1265 c.1161G>A c.(1159-1161)aaG>aaA p.K387K TMEM5_uc001srs.1_Silent_p.K127K NM_014254 NP_055069 Q9Y2B1 TMEM5_HUMAN Homo sapiens transmembrane protein 5 (TMEM5), mRNA. 387 integral to plasma membrane breast(1)|large_intestine(3)|liver(2)|lung(7)|prostate(1)|skin(1) 15 Myeloproliferative disorder(1001;0.0255) BRCA - Breast invasive adenocarcinoma(9;0.0985) GBM - Glioblastoma multiforme(28;9e-08)|BRCA - Breast invasive adenocarcinoma(357;0.000175) TCTTTATCAAGAACTGGAAGG 0.403000 44 6 0 0 0.021553 0 0 PROKR1 10887 broad.mit.edu 37 2 68882300 68882300 + Silent SNP G A A TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr2:68882300G>A uc010yqj.2 + 1 934 c.774G>A c.(772-774)gaG>gaA p.E258E PROKR1_uc002ses.3_Non-coding_Transcript NM_138964 NP_620414 Q8TCW9 PKR1_HUMAN Homo sapiens prokineticin receptor 1 (PROKR1), mRNA. 258 integral to membrane|plasma membrane neuropeptide Y receptor activity endometrium(3)|kidney(2)|large_intestine(14)|lung(9)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 TCTCCCGGGAGCTCTGGTTCA 0.577000 43 4 0 0 0.014758 0 0 NOTCH4 4855 broad.mit.edu 37 6 32164129 32164129 + Missense_Mutation SNP C T T TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr6:32164129C>T uc003obb.3 - 28 5409 c.5270G>A c.(5269-5271)gGa>gAa p.G1757E GPSM3_uc003oaz.3_5'Flank|NOTCH4_uc011dpt.2_Intron|NOTCH4_uc003oba.3_Missense_Mutation_p.G417E|NOTCH4_uc011dpu.2_Non-coding_Transcript|NOTCH4_uc011dpv.2_Non-coding_Transcript|NOTCH4_uc011dpw.1_Missense_Mutation_p.G166E NM_004557 NP_004548 Q99466 NOTC4_HUMAN Homo sapiens notch 4 (NOTCH4), mRNA. 1757 Notch receptor processing|Notch signaling pathway|cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent Golgi lumen|cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|integral to plasma membrane|nucleoplasm calcium ion binding|protein heterodimerization activity|receptor activity NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1) 100 TTTATCGGCTCCGGCCTGGAG 0.607000 140 27 0 0 0.045705 0 0 CSMD2 114784 broad.mit.edu 37 1 34102012 34102012 + Silent SNP G A A TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr1:34102012G>A uc001bxm.1 - 29 5094 c.4917C>T c.(4915-4917)atC>atT p.I1639I CSMD2_uc001bxn.1_Silent_p.I1599I|CSMD2_uc001bxo.1_Silent_p.I512I NM_052896 NP_443128 Q7Z408 CSMD2_HUMAN Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA. 1599 CUB 10. 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) CAGGCCCCAGGATGCAGCTCA 0.652000 24 5 0 0 0.014758 0 0 CD300LD 100131439 broad.mit.edu 37 17 72584873 72584873 + Silent SNP C T T TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr17:72584873C>T uc002jkz.2 - 1 185 c.156G>A c.(154-156)cgG>cgA p.R52R C17orf77_uc002jla.1_Intron NM_001115152 NP_001108624 Q6UXZ3 CLM4_HUMAN Homo sapiens CD300 molecule-like family member d (CD300LD), mRNA. 52 Ig-like V-type. integral to membrane|plasma membrane receptor activity large_intestine(1)|lung(2)|prostate(1)|stomach(1) 5 CTCCTTGACACCGCCACTTCA 0.468000 127 24 0 0 0.083992 0 0 RPS6KA6 27330 broad.mit.edu 37 X 83319312 83319312 + Missense_Mutation SNP C T T TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chrX:83319312C>T uc004eej.2 - 21 2247 c.2211G>A c.(2209-2211)atG>atA p.M737I RPS6KA6_uc011mqt.2_Missense_Mutation_p.M737I|RPS6KA6_uc011mqu.2_Missense_Mutation_p.M634I NM_014496 NP_055311 Q9UK32 KS6A6_HUMAN Homo sapiens ribosomal protein S6 kinase, 90kDa, polypeptide 6 (RPS6KA6), mRNA. 737 axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission cytosol|nucleoplasm ATP binding|magnesium ion binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 46 TTCGCTTTTTCATGCTCCGTC 0.453000 21 4 0 0 0.009096 0 0 MAD1L1 8379 broad.mit.edu 37 7 2262315 2262315 + Silent SNP C T T TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr7:2262315C>T uc003slh.1 - 4 632 c.366G>A c.(364-366)gaG>gaA p.E122E MAD1L1_uc003slf.1_Silent_p.E122E|MAD1L1_uc003slg.1_Silent_p.E122E|MAD1L1_uc010ksh.1_Silent_p.E122E|MAD1L1_uc003sli.1_5'UTR|MAD1L1_uc010ksi.1_Silent_p.E75E|MAD1L1_uc010ksj.3_Silent_p.E122E NM_001013836 NP_003541 Q9Y6D9 MD1L1_HUMAN Homo sapiens MAD1 mitotic arrest deficient-like 1 (yeast) (MAD1L1), transcript variant 2, mRNA. 122 cell division|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase|mitotic prometaphase|mitotic telophase actin cytoskeleton|centrosome|condensed chromosome kinetochore|cytosol|mitochondrion|nucleus|spindle protein binding central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(5) 36 Ovarian(82;0.0272) UCEC - Uterine corpus endometrioid carcinoma (27;0.134)|OV - Ovarian serous cystadenocarcinoma(56;3.63e-14) CCTGCATCTTCTCCTCCGCCC 0.622000 43 6 0 0 0.021553 0 0 DNAH5 1767 broad.mit.edu 37 5 13708295 13708295 + Silent SNP G A A TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr5:13708295G>A uc003jfd.2 - 75 13317 c.13275C>T c.(13273-13275)agC>agT p.S4425S DNAH5_uc003jfc.2_Silent_p.S593S NM_001369 NP_001360 Q8TE73 DYH5_HUMAN Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA. 4425 microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) GCAGATTTTCGCTCATGATGA 0.463000 Kartagener syndrome 209 25 0 0 0.108266 0 0 CETP 1071 broad.mit.edu 37 16 56997015 56997015 + Missense_Mutation SNP A G G TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr16:56997015A>G uc002eki.2 + 1 269 c.212A>G c.(211-213)cAa>cGa p.Q71R CETP_uc002ekj.2_Missense_Mutation_p.Q71R NM_000078 NP_000069 P11597 CETP_HUMAN Homo sapiens cholesteryl ester transfer protein, plasma (CETP), mRNA. 71 cholesterol homeostasis|cholesterol metabolic process|high-density lipoprotein particle remodeling|lipoprotein metabolic process|low-density lipoprotein particle remodeling|phosphatidylcholine metabolic process|phospholipid homeostasis|receptor-mediated endocytosis|regulation of cholesterol efflux|triglyceride homeostasis|triglyceride metabolic process|very-low-density lipoprotein particle remodeling high-density lipoprotein particle|vesicle cholesterol binding|cholesterol transporter activity|phosphatidylcholine binding|phospholipid transporter activity|triglyceride binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(4)|skin(3) 23 CTCCTTGGCCAAGTCAAGTAT 0.627000 60 5 0 0 0.029380 0 0 FLNB 2317 broad.mit.edu 37 3 58064483 58064483 + Missense_Mutation SNP C T T TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr3:58064483C>T uc003djj.2 + 2 746 c.581C>T c.(580-582)cCt>cTt p.P194L FLNB_uc010hne.2_Missense_Mutation_p.P194L|FLNB_uc003djk.2_Missense_Mutation_p.P194L|FLNB_uc010hnf.2_Missense_Mutation_p.P194L|FLNB_uc003djl.2_Missense_Mutation_p.P25L|FLNB_uc003djm.2_Missense_Mutation_p.P25L NM_001457 NP_001448 O75369 FLNB_HUMAN Homo sapiens filamin B, beta (FLNB), transcript variant 2, mRNA. 194 Actin-binding.|CH 2. actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction cell cortex|integral to membrane|nucleus|sarcomere actin binding NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5) 120 BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898) CCGCAGAAGCCTGTGGATAAT 0.532000 30 6 0 0 0.038147 0 0 ZNF658 26149 broad.mit.edu 37 9 40773139 40773139 + Silent SNP T C C TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr9:40773139T>C uc004abs.2 - 4 2288 c.2136A>G c.(2134-2136)aaA>aaG p.K712K ZNF658_uc010mmm.2_Intron|ZNF658_uc010mmn.1_Silent_p.K712K NM_033160 NP_149350 Q5TYW1 ZN658_HUMAN Homo sapiens zinc finger protein 658 (ZNF658), mRNA. 712 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2) 46 GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681) ATTCATAGGGTTTCTCCCCCG 0.403000 387 66 0 0 0.139131 0 0 ARID2 196528 broad.mit.edu 37 12 46231200 46231200 + Splice_Site SNP G C C TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr12:46231200G>C uc001ros.1 + 9 1120 c.1120_splice c.e9+1 p.G374_splice ARID2_uc001ror.3_Splice_Site_p.G374_splice|ARID2_uc009zkg.1_Splice_Site|ARID2_uc009zkh.1_Splice_Site_p.G20_splice|ARID2_uc001rot.1_Splice_Site_p.G20_splice NM_152641 NP_689854 Q68CP9 ARID2_HUMAN Homo sapiens AT rich interactive domain 2 (ARID, RFX-like) (ARID2), mRNA. 374 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 116 Lung SC(27;0.192)|Renal(347;0.236) Lung NSC(34;0.106)|all_lung(34;0.22) OV - Ovarian serous cystadenocarcinoma(5;0.00691) GBM - Glioblastoma multiforme(48;0.0153) AAAGATGAGAGGTGAGTTTTC 0.308000 """N, S, F""" hepatocellular carcinoma 57 8 0 0 0.038147 0 0 DNAJB14 79982 broad.mit.edu 37 4 100851674 100851674 + Missense_Mutation SNP C T T TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr4:100851674C>T uc003hvl.3 - 1 389 c.238G>A c.(238-240)Gac>Aac p.D80N DNAJB14_uc003hvk.3_5'UTR|DNAJB14_uc010ili.3_Intron|DNAJB14_uc003hvm.3_Missense_Mutation_p.D80N NM_001031723 NP_001026893 Q8TBM8 DJB14_HUMAN Homo sapiens DnaJ (Hsp40) homolog, subfamily B, member 14 (DNAJB14), transcript variant 1, mRNA. 80 protein folding integral to membrane heat shock protein binding|unfolded protein binding kidney(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1) 5 OV - Ovarian serous cystadenocarcinoma(123;4.59e-09) GATGTGCTGTCCTTTGTGCAA 0.413000 243 9 0 0 0.069234 0 0 NLRP11 204801 broad.mit.edu 37 19 56300216 56300216 + Missense_Mutation SNP G A A TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr19:56300216G>A uc010ygf.2 - 10 3523 c.2812C>T c.(2812-2814)Ctt>Ttt p.L938F NLRP11_uc002qlz.3_Missense_Mutation_p.L785F|NLRP11_uc002qmb.3_Missense_Mutation_p.L839F|NLRP11_uc002qmc.3_Non-coding_Transcript NM_145007 NP_659444 P59045 NAL11_HUMAN Homo sapiens NLR family, pyrin domain containing 11 (NLRP11), mRNA. 938 ATP binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3) 66 Colorectal(82;0.0002) GBM - Glioblastoma multiforme(193;0.0325) AAGCTCTCAAGAAGTTTTGCA 0.378000 76 5 0 0 0.021553 0 0 FRYL 285527 broad.mit.edu 37 4 48503669 48503670 + Nonsense_Mutation DNP GG AA AA TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr4:48503669_48503670GG>AA uc003gyh.1 - 61 9167_9168 c.8562_8563CC>TT c.(8560-8565)aaccaa>aaTTaa p.Q2855* FRYL_uc003gye.1_Nonsense_Mutation_p.Q37*|FRYL_uc003gyf.1_Nonsense_Mutation_p.Q245*|FRYL_uc003gyg.1_Nonsense_Mutation_p.Q1545* NM_015030 NP_055845 O94915 FRYL_HUMAN Homo sapiens FRY-like (FRYL), mRNA. 2855 regulation of transcription, DNA-dependent|transcription, DNA-dependent protein binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 91 GTATTTACTTGGTTGATAAGTT 0.297000 159 21 0 0 0.115264 0 0 POU2F1 5451 broad.mit.edu 37 1 167343473 167343473 + Silent SNP C T T TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr1:167343473C>T uc001gec.3 + 6 701 c.462C>T c.(460-462)tcC>tcT p.S154S POU2F1_uc010plg.2_Non-coding_Transcript|POU2F1_uc001gee.3_Silent_p.S177S|POU2F1_uc010plh.2_Intron|POU2F1_uc001ged.3_Silent_p.S152S|POU2F1_uc001gef.3_Silent_p.S166S|POU2F1_uc001geg.3_Silent_p.S52S NM_001198783 NP_001185712 P14859 PO2F1_HUMAN Homo sapiens POU class 2 homeobox 1 (POU2F1), transcript variant 2, mRNA. 154 negative regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter nucleoplasm protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1) 30 CCACCATCTCCGCCTCTGCTG 0.622000 22 4 0 0 0.021553 0 0 OR10A3 26496 broad.mit.edu 37 11 7960551 7960551 + Missense_Mutation SNP C T T TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr11:7960551C>T uc010rbi.2 - 0 517 c.517G>A c.(517-519)Gaa>Aaa p.E173K NM_001003745 NP_001003745 P58181 O10A3_HUMAN Homo sapiens olfactory receptor, family 10, subfamily A, member 3 (OR10A3), mRNA. 173 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2) 21 Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189) TGATTAATTTCATTGGGGCCA 0.413000 74 7 0 0 0.058154 0 0 KIAA1429 25962 broad.mit.edu 37 8 95507125 95507125 + Missense_Mutation SNP G A A TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr8:95507125G>A uc003ygo.2 - 19 4675 c.4604C>T c.(4603-4605)cCa>cTa p.P1535L KIAA1429_uc010maz.2_Non-coding_Transcript NM_015496 NP_056311 Q69YN4 VIR_HUMAN Homo sapiens KIAA1429 (KIAA1429), transcript variant 1, mRNA. 1535 RNA splicing|mRNA processing nucleus p.P1535P(1) NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 66 Breast(36;3.29e-05) BRCA - Breast invasive adenocarcinoma(8;0.00185) AGCCTGAAATGGAGTGAACCA 0.323000 258 35 0 0 0.098360 0 0 TFAP2D 83741 broad.mit.edu 37 6 50696930 50696930 + Missense_Mutation SNP G A A TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr6:50696930G>A uc003paf.3 + 4 1300 c.788G>A c.(787-789)cGc>cAc p.R263H TFAP2D_uc011dwt.2_Non-coding_Transcript NM_172238 NP_758438 Q7Z6R9 AP2D_HUMAN Homo sapiens transcription factor AP-2 delta (activating enhancer binding protein 2 delta) (TFAP2D), mRNA. 263 DNA binding|sequence-specific DNA binding transcription factor activity p.R263P(2) NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1) 60 Lung NSC(77;0.0334) AATGGGGGCCGCTGCCTGAGA 0.418000 127 4 0 0 0.009096 0 0 PLCG1 5335 broad.mit.edu 37 20 39792068 39792068 + Silent SNP C T T TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr20:39792068C>T uc002xjp.1 + 8 961 c.840C>T c.(838-840)ttC>ttT p.F280F PLCG1_uc002xjo.1_Silent_p.F280F|PLCG1_uc010zwe.1_5'Flank|PLCG1_uc010ggf.3_5'Flank NM_182811 NP_877963 P19174 PLCG1_HUMAN Homo sapiens phospholipase C, gamma 1 (PLCG1), transcript variant 2, mRNA. 280 T cell receptor signaling pathway|activation of phospholipase C activity|axon guidance|blood coagulation|cellular response to epidermal growth factor stimulus|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular signal transduction|leukocyte migration|nerve growth factor receptor signaling pathway|phospholipid catabolic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of epithelial cell migration cytosol|lamellipodium|plasma membrane|ruffle calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|receptor signaling protein activity breast(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(16)|skin(6)|urinary_tract(2) 46 Myeloproliferative disorder(115;0.00878) TGCTCAGCTTCCTCCGAGACC 0.557000 53 4 0 0 0.038147 0 0 NARF 26502 broad.mit.edu 37 17 80445854 80445854 + Missense_Mutation SNP C T T TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr17:80445854C>T uc010dit.3 + 12 1467 c.1327C>T c.(1327-1329)Cgg>Tgg p.R443W NARF_uc002kff.4_Missense_Mutation_p.R339W|NARF_uc002kfg.4_Missense_Mutation_p.R398W|NARF_uc002kfj.4_Missense_Mutation_p.R350W NM_031968 NP_114174 Q9UHQ1 NARF_HUMAN Homo sapiens nuclear prelamin A recognition factor (NARF), transcript variant 2, mRNA. 398 lamin filament lamin binding endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 24 Breast(20;0.00106)|all_neural(118;0.0804) OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369) GGCCCTGCTGCGGCAGATGGA 0.567000 94 4 0 0 0.009096 0 0 SLC25A2 83884 broad.mit.edu 37 5 140683354 140683354 + Missense_Mutation SNP C A A TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr5:140683354C>A uc003ljf.3 - 0 259 c.79G>T c.(79-81)Ggg>Tgg p.G27W NM_031947 NP_114153 Q9BXI2 ORNT2_HUMAN Homo sapiens solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 2 (SLC25A2), nuclear gene encoding mitochondrial protein, mRNA. 27 mitochondrial ornithine transport|urea cycle integral to membrane|mitochondrial inner membrane L-ornithine transmembrane transporter activity breast(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 19 all_lung(500;0.000249)|Lung NSC(810;0.0011)|Ovarian(839;0.00556)|Breast(839;0.0173)|all_hematologic(541;0.152) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GBM - Glioblastoma multiforme(465;0.00204) L-Ornithine(DB00129) AAGGGCTGCCCAGTCAGTACA 0.592000 72 6 0.00448238 0.00456673 0.047766 1 0 C1QTNF7 114905 broad.mit.edu 37 4 15444216 15444216 + Silent SNP C T T rs140722077 byFrequency TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr4:15444216C>T uc003gno.3 + 2 943 c.684C>T c.(682-684)ttC>ttT p.F228F C1QTNF7_uc011bxb.2_Silent_p.F221F|C1QTNF7_uc003gnp.3_Silent_p.F221F NM_001135170 NP_114117 Q9BXJ2 C1QT7_HUMAN Homo sapiens C1q and tumor necrosis factor related protein 7 (C1QTNF7), transcript variant 1, mRNA. 221 C1q. collagen p.F221F(1) endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|stomach(1) 16 TAAAGACCTTCGACGCCAACA 0.463000 121 6 0 0 0.047766 0 0 CTAGE9 643854 broad.mit.edu 37 6 132031964 132031964 + Missense_Mutation SNP G A A TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr6:132031964G>A uc011ece.2 - 0 194 c.194C>T c.(193-195)tCg>tTg p.S65L ENPP3_uc003qcu.4_Intron|ENPP3_uc003qcv.3_Intron|ENPP3_uc010kfq.3_Intron NM_001145659 NP_001139131 A4FU28 CTGE9_HUMAN Homo sapiens CTAGE family, member 9 (CTAGE9), mRNA. 65 integral to membrane endometrium(1)|lung(1) 2 ACTCCTAACCGATCTAAAACT 0.388000 44 7 0 0 0.038147 0 0 TAS2R5 54429 broad.mit.edu 37 7 141491019 141491019 + Silent SNP C T T TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr7:141491019C>T uc003vwr.1 + 0 1003 c.858C>T c.(856-858)atC>atT p.I286I NM_018980 NP_061853 Q9NYW4 TA2R5_HUMAN Homo sapiens taste receptor, type 2, member 5 (TAS2R5), mRNA. 286 chemosensory behavior|sensory perception of taste taste receptor activity breast(1)|endometrium(1)|large_intestine(4)|lung(2)|skin(1) 9 Melanoma(164;0.0171) GTCAGAAGATCCTGTGGAAGA 0.493000 112 14 0 0 0.132662 0 0 BOD1L2 284257 broad.mit.edu 37 18 54814757 54814757 + Silent SNP C T T TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr18:54814757C>T uc002lgm.3 + 0 465 c.214C>T c.(214-216)Ctg>Ttg p.L72L Homo sapiens biorientation of chromosomes in cell division 1 pseudogene (BOD1P), non-coding RNA. TTACCAAAACCTGAGCCAGAA 0.542000 19 3 0 0 0.115264 0 0 GYPC 2995 broad.mit.edu 37 2 127453655 127453655 + Silent SNP C T T TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr2:127453655C>T uc002tnq.3 + 3 480 c.324C>T c.(322-324)gcC>gcT p.A108A GYPC_uc002tnr.3_Silent_p.A89A|GYPC_uc010flv.3_Non-coding_Transcript NM_002101 NP_002092 P04921 GLPC_HUMAN Homo sapiens glycophorin C (Gerbich blood group) (GYPC), transcript variant 1, mRNA. 108 cortical cytoskeleton|integral to plasma membrane protein binding central_nervous_system(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|prostate(2)|urinary_tract(1) 13 Colorectal(110;0.0533) BRCA - Breast invasive adenocarcinoma(221;0.075) CAGATGCAGCCCTGCAGGGAG 0.562000 60 7 0 0 0.029380 0 0 LRRN1 57633 broad.mit.edu 37 3 3886713 3886713 + Nonsense_Mutation SNP C T T TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr3:3886713C>T uc003bpt.4 + 1 1149 c.388C>T c.(388-390)Cag>Tag p.Q130* SUMF1_uc003bps.2_Intron|LRRN1_uc021wsh.1_Nonsense_Mutation_p.Q130* NM_020873 NP_065924 Q6UXK5 LRRN1_HUMAN Homo sapiens leucine rich repeat neuronal 1 (LRRN1), mRNA. 130 integral to membrane NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2) 26 Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617) GGAGGAAAATCAGATTACCGA 0.423000 66 5 0 0 0.014758 0 0 RGPD3 653489 broad.mit.edu 37 2 107041192 107041192 + Nonsense_Mutation SNP C T T TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr2:107041192C>T uc010ywi.1 - 19 3288 c.3231G>A c.(3229-3231)tgG>tgA p.W1077* NM_001144013 NP_001137485 A6NKT7 RGPD3_HUMAN Homo sapiens RANBP2-like and GRIP domain containing 3 (RGPD3), mRNA. 1077 RanBD1 1. intracellular transport binding breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2) 71 CCCTTTCTTTCCACTGACTTA 0.383000 458 27 0 0 0.064281 0 0 LEPR 3953 broad.mit.edu 37 1 66075721 66075721 + Missense_Mutation SNP G A A TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr1:66075721G>A uc001dci.3 + 12 2233 c.1844G>A c.(1843-1845)aGg>aAg p.R615K LEPR_uc001dcg.3_Missense_Mutation_p.R615K|LEPR_uc001dch.3_Missense_Mutation_p.R615K|LEPR_uc009waq.3_Intron|LEPR_uc021ool.1_Missense_Mutation_p.R615K|LEPR_uc001dcj.3_Missense_Mutation_p.R615K|LEPR_uc001dck.3_Missense_Mutation_p.R615K NM_002303 NP_002294 P48357 LEPR_HUMAN Homo sapiens leptin receptor (LEPR), transcript variant 1, mRNA. 615 Fibronectin type-III 2. energy reserve metabolic process|multicellular organismal development extracellular region|integral to membrane|plasma membrane cytokine receptor activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2) 36 OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094) CGCTGTAAGAGGCTAGATGGA 0.403000 177 18 0 0 0.043863 0 0 PNCK 139728 broad.mit.edu 37 X 152936406 152936406 + Missense_Mutation SNP C T T TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chrX:152936406C>T uc011myu.2 - 8 1208 c.1022G>A c.(1021-1023)aGg>aAg p.R341K PNCK_uc011myt.2_Missense_Mutation_p.R275K|PNCK_uc004fhz.4_Missense_Mutation_p.R156K NM_001039582 NP_001034671 Q6P2M8 KCC1B_HUMAN Homo sapiens pregnancy up-regulated non-ubiquitously expressed CaM kinase (PNCK), transcript variant 1, mRNA. 258 cytoplasm|nucleus ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity breast(2)|lung(3)|skin(1) 6 all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) GCAGGTGAACCTCTTCTGGGG 0.642000 37 6 0 0 0.038147 0 0 PPARGC1B 133522 broad.mit.edu 37 5 149225417 149225417 + Missense_Mutation SNP T A A TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr5:149225417T>A uc003lrc.3 + 10 3002 c.2911T>A c.(2911-2913)Tcc>Acc p.S971T PPARGC1B_uc003lrb.2_Missense_Mutation_p.S971T|PPARGC1B_uc003lrd.3_Missense_Mutation_p.S932T|PPARGC1B_uc021yfr.1_Missense_Mutation_p.S907T|PPARGC1B_uc003lre.1_Missense_Mutation_p.S950T|PPARGC1B_uc003lrf.3_Missense_Mutation_p.S950T NM_133263 NP_573570 Q86YN6 PRGC2_HUMAN Homo sapiens peroxisome proliferator-activated receptor gamma, coactivator 1 beta (PPARGC1B), transcript variant 1, mRNA. 971 RRM. estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter mediator complex AF-2 domain binding|RNA binding|RNA polymerase II transcription cofactor activity|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator activity NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1) 30 KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147) CAACGAGCCCTCCTTCCAGCT 0.597000 64 5 0 0 0.014758 0 0 APBA1 320 broad.mit.edu 37 9 72055928 72055928 + Missense_Mutation SNP C T T TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr9:72055928C>T uc004ahh.2 - 10 2561 c.2285G>A c.(2284-2286)aGc>aAc p.S762N NM_001163 NP_001154 Q02410 APBA1_HUMAN Homo sapiens amyloid beta (A4) precursor protein-binding, family A, member 1 (APBA1), mRNA. 762 PDZ 2. 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 ATTCTGGACGCTGAAACCGAG 0.483000 131 28 0 0 0.074837 0 0 MYH14 79784 broad.mit.edu 37 19 50792717 50792717 + Missense_Mutation SNP C G G TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr19:50792717C>G uc010enu.1 + 34 4824 c.4777C>G c.(4777-4779)Cgg>Ggg p.R1593G MYH14_uc002prq.1_Missense_Mutation_p.R1560G|MYH14_uc002prr.1_Missense_Mutation_p.R1552G|MYH14_uc010ycb.2_5'UTR|MYH14_uc002prs.1_5'UTR NM_001145809 NP_001139281 Q7Z406 MYH14_HUMAN Homo sapiens myosin, heavy chain 14, non-muscle (MYH14), transcript variant 3, mRNA. 1552 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) ACGAGCCTGCCGGGTAGCAGA 0.602000 22 6 0 0 0.029380 0 0 EIF2AK3 9451 broad.mit.edu 37 2 88890435 88890435 + Missense_Mutation SNP C A A TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr2:88890435C>A uc002stc.4 - 4 1205 c.903G>T c.(901-903)caG>caT p.Q301H NM_004836 NP_004827 Q9NZJ5 E2AK3_HUMAN Homo sapiens eukaryotic translation initiation factor 2-alpha kinase 3 (EIF2AK3), mRNA. 301 ER overload response|activation of caspase activity|bone mineralization|calcium-mediated signaling|chondrocyte development|endocrine pancreas development|endoplasmic reticulum organization|endoplasmic reticulum unfolded protein response|insulin secretion|insulin-like growth factor receptor signaling pathway|negative regulation of myelination|negative regulation of translational initiation in response to stress|protein autophosphorylation|protein homooligomerization endoplasmic reticulum membrane|integral to membrane ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|identical protein binding ovary(3) 3 TGGCAGCTTCCTGTTCTTCCA 0.423000 100 7 1.12685e-05 1.15426e-05 0.047766 1 0 KBTBD12 166348 broad.mit.edu 37 3 127642062 127642062 + Missense_Mutation SNP G T T TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr3:127642062G>T uc010hsr.3 + 0 161 c.158G>T c.(157-159)aGc>aTc p.S53I KBTBD12_uc003ejy.4_Intron|KBTBD12_uc010hsq.3_Intron|KBTBD12_uc003eka.4_5'Flank|KBTBD12_uc003ejz.2_Missense_Mutation_p.S53I NM_207335 NP_997218 Q3ZCT8 KBTBC_HUMAN Homo sapiens kelch repeat and BTB (POZ) domain containing 12 (KBTBD12), mRNA. 53 BTB. endometrium(1)|large_intestine(6)|lung(5)|ovary(1) 13 GCTGCATTTAGCCCTTATTTC 0.393000 49 3 0.00909568 0.00924199 0.009096 1 0 DEF8 54849 broad.mit.edu 37 16 90023927 90023927 + Silent SNP C T T TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr16:90023927C>T uc002fpn.2 + 4 547 c.414C>T c.(412-414)ttC>ttT p.F138F DEF8_uc021tmu.1_Silent_p.F77F|DEF8_uc002fpl.3_Silent_p.F77F|DEF8_uc002fpm.3_Silent_p.F77F|DEF8_uc002fpo.2_Silent_p.F77F|DEF8_uc002fpp.2_Intron|DEF8_uc021tmv.1_Silent_p.F77F|DEF8_uc010vpq.2_Silent_p.F17F|DEF8_uc010vpr.2_Silent_p.F77F NM_207514 NP_001229746 Q6ZN54 DEFI8_HUMAN Homo sapiens differentially expressed in FDCP 8 homolog (mouse) (DEF8), transcript variant 1, mRNA. 138 intracellular signal transduction zinc ion binding central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1) 12 all_cancers(9;7.59e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.0019)|all_hematologic(23;0.0194) BRCA - Breast invasive adenocarcinoma(80;0.0274) AGGGTCTGTTCCTGGCCTCTG 0.657000 11 4 0 0 0.014758 0 0 PCDHB10 56126 broad.mit.edu 37 5 140574511 140574511 + Missense_Mutation SNP G A A TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr5:140574511G>A uc003lix.3 + 0 2560 c.2386G>A c.(2386-2388)Gga>Aga p.G796R NM_018930 NP_061753 Q9UN67 PCDBA_HUMAN Homo sapiens protocadherin beta 10 (PCDHB10), mRNA. 796 calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 76 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) AAATAGCTTTGGATTTAATAT 0.353000 30 6 0 0 0.038147 0 0 BIVM-ERCC5 100533467 broad.mit.edu 37 13 103504564 103504564 + Missense_Mutation SNP T C C TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr13:103504564T>C uc001vpu.2 + 9 1669 c.1547T>C c.(1546-1548)cTc>cCc p.L516P BIVM-ERCC5_uc010tjb.2_Missense_Mutation_p.L62P|BIVM-ERCC5_uc001vpw.3_Missense_Mutation_p.L62P|BIVM-ERCC5_uc010tjc.1_Non-coding_Transcript|BIVM-ERCC5_uc010tjd.1_5'UTR NM_001204425 NP_001191354 Q59FZ7 Q59FZ7_HUMAN Homo sapiens BIVM-ERCC5 readthrough (BIVM-ERCC5), mRNA. 487 nucleotide-excision repair nucleus endonuclease activity|single-stranded DNA binding TTTCATCGGCTCTGCAAACTC 0.388000 56 3 0 0 0.115264 0 0 INPP5A 3632 broad.mit.edu 37 10 134563053 134563053 + Silent SNP C T T TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr10:134563053C>T uc001llp.3 + 9 1013 c.765C>T c.(763-765)gtC>gtT p.V255V INPP5A_uc001llo.1_Silent_p.V255V|INPP5A_uc001llq.3_Intron NM_005539 NP_005530 Q14642 I5P1_HUMAN Homo sapiens inositol polyphosphate-5-phosphatase, 40kDa (INPP5A), mRNA. 255 cell communication membrane PH domain binding|inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity cervix(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 all_cancers(35;8.59e-13)|all_epithelial(44;5.49e-09)|Lung NSC(174;0.000854)|all_lung(145;0.00146)|all_neural(114;0.0299)|Colorectal(31;0.0599)|Breast(234;0.0849)|Melanoma(40;0.124)|all_hematologic(284;0.196)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;0.000102)|Epithelial(32;0.00023)|all cancers(32;0.000326) TGCAGACGGTCCGGGCCGCCG 0.622000 60 3 0 0 0.009096 0 0 PIK3CA 5290 broad.mit.edu 37 3 178922366 178922366 + Missense_Mutation SNP T A A TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr3:178922366T>A uc003fjk.3 + 5 1292 c.1135T>A c.(1135-1137)Tcc>Acc p.S379T NM_006218 NP_006209 P42336 PK3CA_HUMAN Homo sapiens phosphoinositide-3-kinase, catalytic, alpha polypeptide (PIK3CA), mRNA. 379 C2 PI3K-type. T cell costimulation|T cell receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity p.C378R(5)|p.C378Y(1)|p.C378F(1) NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208) 5269 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) AGTACCTTGTTCCAATCCCAG 0.338000 57 Mis """colorectal, gastric, gliobastoma, breast""" HNSCC(19;0.045)|TSP Lung(28;0.18) 94 16 0 0 0.062417 0 0 FASN 2194 broad.mit.edu 37 17 80045901 80045901 + Missense_Mutation SNP G A A rs146356200 TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr17:80045901G>A uc002kdu.3 - 17 2912 c.2795C>T c.(2794-2796)tCc>tTc p.S932F FASN_uc002kdw.1_Missense_Mutation_p.S148F NM_004104 NP_004095 P49327 FAS_HUMAN Homo sapiens fatty acid synthase (FASN), mRNA. 932 energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process Golgi apparatus|cytosol|melanosome|plasma membrane 3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding p.S932S(1) central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1) 34 all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246) OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237) Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339) TACCTCCAGGGACACTGTCCC 0.667000 53 16 0 0 0.043863 0 0 BIRC6 57448 broad.mit.edu 37 2 32740645 32740645 + Missense_Mutation SNP G T T TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr2:32740645G>T uc010ezu.3 + 54 11291 c.11157G>T c.(11155-11157)ttG>ttT p.L3719F NM_016252 NP_057336 Q9NR09 BIRC6_HUMAN Homo sapiens baculoviral IAP repeat containing 6 (BIRC6), mRNA. 3719 anti-apoptosis|apoptosis intracellular acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5) 172 Acute lymphoblastic leukemia(172;0.155) TGTTTTTATTGTGTCACTCTG 0.423000 65 8 1.06961e-07 1.10159e-07 0.038147 1 0 ADAMTS15 170689 broad.mit.edu 37 11 130343086 130343086 + Silent SNP C T T TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr11:130343086C>T uc010scd.2 + 7 2223 c.2223C>T c.(2221-2223)ttC>ttT p.F741F NM_139055 NP_620686 Q8TE58 ATS15_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 15 (ADAMTS15), mRNA. 741 Spacer. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(8)|urinary_tract(1) 36 all_hematologic(175;0.0429) Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215) ACGGGCATTTCGTGGTGTCGG 0.637000 93 8 0 0 0.069234 0 0 HMGCS2 3158 broad.mit.edu 37 1 120306986 120306986 + Missense_Mutation SNP G A A TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr1:120306986G>A uc001eid.3 - 1 456 c.368C>T c.(367-369)tCt>tTt p.S123F HMGCS2_uc010oxj.2_Missense_Mutation_p.S123F|HMGCS2_uc021osx.1_Missense_Mutation_p.S31F 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. 123 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) CCTGCCCACAGAGTCCCATGG 0.537000 103 14 0 0 0.033300 0 0 DHX16 8449 broad.mit.edu 37 6 30640560 30640560 + Missense_Mutation SNP C T T TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr6:30640560C>T uc003nqz.3 - 0 271 c.59G>A c.(58-60)gGg>gAg p.G20E DHX16_uc011dmo.2_Intron NM_003587 NP_003578 O60231 DHX16_HUMAN Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 16 (DHX16), transcript variant 1, mRNA. 20 RNA splicing|mRNA processing nucleus ATP binding|ATP-dependent helicase activity|RNA helicase activity|nucleic acid binding kidney(2)|ovary(2) 4 CTCGCTCAGCCCCAACACCGA 0.672000 45 6 0 0 0.038147 0 0 GAB4 128954 broad.mit.edu 37 22 17445656 17445656 + Splice_Site SNP C T T TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr22:17445656C>T uc002zlw.3 - 8 1584 c.1476_splice c.e8+1 p.P492_splice NM_001037814 NP_001032903 Q2WGN9 GAB4_HUMAN Homo sapiens GRB2-associated binding protein family, member 4 (GAB4), mRNA. 492 breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(24)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 44 all_epithelial(15;0.112)|Lung NSC(13;0.248) AAGGACTCACCGGGAAAAGAT 0.572000 40 5 0 0 0.029380 0 0 HDAC2 3066 broad.mit.edu 37 6 114274470 114274470 + Missense_Mutation SNP C T T TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr6:114274470C>T uc003pwd.2 - 5 897 c.610G>A c.(610-612)Gaa>Aaa p.E204K HDAC2_uc003pwc.2_Missense_Mutation_p.E174K|HDAC2_uc003pwe.2_Missense_Mutation_p.E174K NM_001527 NP_001518 Q92769 HDAC2_HUMAN Homo sapiens histone deacetylase 2 (HDAC2), transcript variant 1, mRNA. 204 Histone deacetylase. blood coagulation|dendrite development|embryonic digit morphogenesis|epidermal cell differentiation|eyelid development in camera-type eye|fungiform papilla formation|hair follicle placode formation|maintenance of chromatin silencing|negative regulation of apoptosis|negative regulation of cell cycle|negative regulation of neuron projection development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|odontogenesis of dentine-containing tooth|positive regulation of cell proliferation|positive regulation of proteolysis|positive regulation of receptor biosynthetic process|positive regulation of transcription from RNA polymerase II promoter ESC/E(Z) complex|NuRD complex|Sin3 complex|cytoplasm NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|chromatin binding|enzyme binding|histone deacetylase activity (H3-K16 specific)|sequence-specific DNA binding|transcription factor binding biliary_tract(1)|central_nervous_system(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(2) 27 all_cancers(87;0.000629)|all_epithelial(87;0.00274)|Colorectal(196;0.0317)|all_lung(197;0.24) all cancers(137;0.00318)|OV - Ovarian serous cystadenocarcinoma(136;0.00569)|Epithelial(106;0.0112)|GBM - Glioblastoma multiforme(226;0.0832) Vorinostat(DB02546) GGAAAGTATTCCCCATATTTA 0.348000 187 14 0 0 0.043863 0 0 PNLDC1 154197 broad.mit.edu 37 6 160239686 160239686 + Splice_Site SNP C T T rs142457687 byFrequency TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr6:160239686C>T uc003qsy.1 + 16 1296 c.1257_splice c.e16+1 p.I419_splice PNLDC1_uc003qsx.1_Splice_Site_p.I408_splice NM_173516 NP_775787 Q8NA58 PNDC1_HUMAN Homo sapiens poly(A)-specific ribonuclease (PARN)-like domain containing 1 (PNLDC1), mRNA. 408 integral to membrane|nucleus nucleic acid binding autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1) 31 Breast(66;0.00519)|Ovarian(120;0.123) OV - Ovarian serous cystadenocarcinoma(65;1.55e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06) TCCCAAAGATCGTGAGTAGAT 0.582000 50 4 0 0 0.009096 0 0 SEMA3D 223117 broad.mit.edu 37 7 84671598 84671598 + Missense_Mutation SNP C T T TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr7:84671598C>T uc003uic.3 - 7 905 c.865G>A c.(865-867)Gat>Aat p.D289N SEMA3D_uc010led.3_Missense_Mutation_p.D289N|SEMA3D_uc003uib.3_5'Flank NM_152754 NP_689967 O95025 SEM3D_HUMAN Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D (SEMA3D), mRNA. 289 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 CCTCCTACATCATTCTGACAT 0.373000 178 19 0 0 0.038395 0 0 NUP160 23279 broad.mit.edu 37 11 47830020 47830020 + Missense_Mutation SNP G T T TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr11:47830020G>T uc001ngm.3 - 17 2388 c.2303C>A c.(2302-2304)cCc>cAc p.P768H NUP160_uc009ylw.3_Non-coding_Transcript|NUP160_uc021qiu.1_Missense_Mutation_p.P768H NM_015231 NP_056046 Q12769 NU160_HUMAN Homo sapiens nucleoporin 160kDa (NUP160), mRNA. 768 carbohydrate metabolic process|glucose transport|mRNA export from nucleus|mitotic prometaphase|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction Nup107-160 complex|cytosol nucleocytoplasmic transporter activity|protein binding p.P768S(1) NS(1)|biliary_tract(2)|breast(7)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(6)|prostate(2)|skin(2)|urinary_tract(2) 53 TAAGAGTAGGGGAGCTGTTCG 0.408000 61 5 2.0095e-06 2.06396e-06 0.029380 1 0 ARHGEF12 23365 broad.mit.edu 37 11 120292521 120292521 + Missense_Mutation SNP C T T TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr11:120292521C>T uc001pxl.2 + 5 643 c.308C>T c.(307-309)gCc>gTc p.A103V ARHGEF12_uc009zat.3_Missense_Mutation_p.A84V|ARHGEF12_uc010rzn.1_5'UTR|ARHGEF12_uc009zau.1_5'UTR|ARHGEF12_uc021qrm.1_Missense_Mutation_p.A84V NM_015313 NP_056128 Q9NZN5 ARHGC_HUMAN Homo sapiens Rho guanine nucleotide exchange factor (GEF) 12 (ARHGEF12), transcript variant 1, mRNA. 103 PDZ. G-protein coupled receptor protein signaling pathway|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 cytosol|membrane G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2) 61 Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231) GATGGAGCAGCCATGCGGGCT 0.358000 T MLL AML 98 13 0 0 0.105934 0 0 NTF3 4908 broad.mit.edu 37 12 5603796 5603796 + Missense_Mutation SNP A G G TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr12:5603796A>G uc001qnl.4 + 0 499 c.416A>G c.(415-417)tAc>tGc p.Y139C NTF3_uc001qnk.4_Missense_Mutation_p.Y152C NM_002527 NP_002518 P20783 NTF3_HUMAN Homo sapiens neurotrophin 3 (NTF3), transcript variant 2, mRNA. 139 signal transduction extracellular region growth factor activity|neurotrophin receptor binding p.R138W(1)|p.R138Q(1) endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(3)|upper_aerodigestive_tract(1) 22 CGGAAACGGTACGCGGAGCAT 0.602000 102 21 0 0 0.083992 0 0 CEP76 79959 broad.mit.edu 37 18 12699056 12699056 + Missense_Mutation SNP G A A TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr18:12699056G>A uc002kri.3 - 3 598 c.442C>T c.(442-444)Cgt>Tgt p.R148C PSMG2_uc002krg.3_Intron|CEP76_uc002krh.3_5'UTR|CEP76_uc010wzz.2_Intron|CEP76_uc010xaa.1_5'UTR|CEP76_uc010xab.1_3'UTR NM_024899 NP_079175 Q8TAP6 CEP76_HUMAN Homo sapiens centrosomal protein 76kDa (CEP76), mRNA. 148 G2/M transition of mitotic cell cycle|regulation of centriole replication centriole|cytosol protein binding endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 GGTTTAGAACGAAAACGTTGG 0.373000 56 13 0 0 0.119110 0 0 SALL1 6299 broad.mit.edu 37 16 51172617 51172617 + Silent SNP C T T TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr16:51172617C>T uc021tif.1 - 1 3547 c.3225G>A c.(3223-3225)acG>acA p.T1075T SALL1_uc021tid.1_Silent_p.T1075T|SALL1_uc021tie.1_Silent_p.T1172T|SALL1_uc010cbv.3_Intron NM_001127892 NP_001121364 Q9NSC2 SALL1_HUMAN Homo sapiens sal-like 1 (Drosophila) (SALL1), transcript variant 2, mRNA. 1172 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 p.A1074V(1) 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) TGCCTTTAGTCGTGAAAGCTC 0.488000 50 7 0 0 0.058154 0 0 CLPTM1 1209 broad.mit.edu 37 19 45494147 45494147 + Silent SNP C T T TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr19:45494147C>T uc002pai.3 + 10 1417 c.1363C>T c.(1363-1365)Cta>Tta p.L455L CLPTM1_uc010xxf.2_Silent_p.L353L|CLPTM1_uc010xxg.2_Silent_p.L441L|CLPTM1_uc021uvo.1_5'Flank NM_001294 NP_001285 O96005 CLPT1_HUMAN Homo sapiens cleft lip and palate associated transmembrane protein 1 (CLPTM1), transcript variant 2, mRNA. 455 cell differentiation|multicellular organismal development|regulation of T cell differentiation in thymus external side of plasma membrane|integral to plasma membrane endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 23 all_neural(266;0.224)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.00354)|Epithelial(262;0.187) CTTCCCCCGCCTATCCTTCAA 0.582000 52 10 0 0 0.093190 0 0 NEBL 10529 broad.mit.edu 37 10 21074778 21074778 + Silent SNP G A A TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr10:21074778G>A uc001iqi.3 - 27 3340 c.2943C>T c.(2941-2943)atC>atT p.I981I NEBL_uc001iqj.3_Non-coding_Transcript|NEBL_uc001iqk.3_Silent_p.I237I|NEBL_uc021pnu.1_3'UTR NM_006393 NP_006384 O76041 NEBL_HUMAN Homo sapiens nebulette (NEBL), transcript variant 1, mRNA. 981 SH3. regulation of actin filament length actin binding|structural constituent of muscle p.I981I(2) NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 70 GCACGTTGACGATGTAGTCGC 0.493000 38 10 0 0 0.080935 0 0 C6orf10 10665 broad.mit.edu 37 6 32261003 32261003 + Missense_Mutation SNP C T T TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr6:32261003C>T uc021yvt.1 - 22 1620 c.1447G>A c.(1447-1449)Gga>Aga p.G483R C6orf10_uc011dpx.2_Intron|C6orf10_uc021yvs.1_Missense_Mutation_p.G400R|C6orf10_uc011dpz.2_Missense_Mutation_p.G481R|C6orf10_uc021yvu.1_Missense_Mutation_p.G481R|C6orf10_uc021yvv.1_Missense_Mutation_p.G467R NM_006781 NP_006772 Q5SRN2 CF010_HUMAN Homo sapiens chromosome 6 open reading frame 10 (C6orf10), mRNA. 483 Lys-rich. integral to membrane cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|skin(1) 25 GCTTCCTGTCCTTTTAGTACA 0.383000 160 20 0 0 0.069288 0 0 DLAT 1737 broad.mit.edu 37 11 111896990 111896990 + Silent SNP G A A TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr11:111896990G>A uc001pmo.3 + 1 1007 c.348G>A c.(346-348)ggG>ggA p.G116G DLAT_uc010rwr.2_Silent_p.G116G|DLAT_uc021qqn.1_Silent_p.G60G NM_001931 NP_001922 P10515 ODP2_HUMAN Homo sapiens dihydrolipoamide S-acetyltransferase (DLAT), nuclear gene encoding mitochondrial protein, mRNA. 116 Lipoyl-binding 1. glycolysis|regulation of acetyl-CoA biosynthetic process from pyruvate mitochondrial pyruvate dehydrogenase complex dihydrolipoyllysine-residue acetyltransferase activity|protein binding p.E115fs*10(1)|p.E115fs*7(1) breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1) 22 all_cancers(61;4.53e-11)|all_epithelial(67;2.76e-06)|Melanoma(852;9.42e-06)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0512)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663) Epithelial(105;4.87e-07)|BRCA - Breast invasive adenocarcinoma(274;6.83e-07)|all cancers(92;9.63e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0557) NADH(DB00157) AAAAAGAGGGGGACAAAATCA 0.338000 23 3 0 0 0.009096 0 0 ZFPM2 23414 broad.mit.edu 37 8 106811112 106811112 + Silent SNP C T T TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr8:106811112C>T uc003ymd.3 + 6 923 c.900C>T c.(898-900)ttC>ttT p.F300F ZFPM2_uc011lhs.2_Silent_p.F31F NM_012082 NP_036214 Q8WW38 FOG2_HUMAN Homo sapiens zinc finger protein, multitype 2 (ZFPM2), mRNA. 300 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) TGTGCCCCTTCCCACAGTGCA 0.488000 146 12 0 0 0.033300 0 0 SLC46A1 113235 broad.mit.edu 37 17 26727669 26727669 + Missense_Mutation SNP G A A TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr17:26727669G>A uc002hbf.2 - 4 1377 c.1279C>T c.(1279-1281)Ctc>Ttc p.L427F SARM1_uc010crl.1_3'UTR|SARM1_uc002hbe.1_3'UTR|SLC46A1_uc021ttr.1_Missense_Mutation_p.L399F NM_080669 NP_542400 Q96NT5 PCFT_HUMAN Homo sapiens solute carrier family 46 (folate transporter), member 1 (SLC46A1), transcript variant 1, mRNA. 427 cellular iron ion homeostasis|folic acid metabolic process apical plasma membrane|cytoplasm|integral to membrane folic acid binding|folic acid transporter activity|heme transporter activity lung(5) 5 all_lung(13;0.000533)|Lung NSC(42;0.00171) UCEC - Uterine corpus endometrioid carcinoma (53;0.153) Folic Acid(DB00158) GCTCCCAGGAGGAAGGGGAAC 0.552000 22 6 0 0 0.021553 0 0 SFI1 9814 broad.mit.edu 37 22 32009698 32009698 + Silent SNP G A A TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr22:32009698G>A uc003ale.3 + 26 3246 c.2853G>A c.(2851-2853)agG>agA p.R951R SFI1_uc003alf.3_Silent_p.R920R|SFI1_uc003alg.3_Silent_p.R869R|SFI1_uc011alp.2_Silent_p.R857R|SFI1_uc011alq.2_Silent_p.R896R|SFI1_uc003alh.3_Non-coding_Transcript|SFI1_uc010gwi.3_Non-coding_Transcript|SFI1_uc003ali.3_5'Flank|SFI1_uc003alj.3_5'Flank NM_001007467 NP_001007468 A8K8P3 SFI1_HUMAN Homo sapiens Sfi1 homolog, spindle assembly associated (yeast) (SFI1), transcript variant 1, mRNA. 951 G2/M transition of mitotic cell cycle centriole|cytosol NS(2)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3) 38 CACCCAGCAGGAAAGTGACGT 0.652000 OREG0003527 type=REGULATORY REGION|Gene=SFI1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 18 5 0 0 0.038147 0 0 CPN2 1370 broad.mit.edu 37 3 194061987 194061987 + Missense_Mutation SNP G A A TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr3:194061987G>A uc003fts.3 - 1 1535 c.1445C>T c.(1444-1446)aCc>aTc p.T482I CPN2_uc021xix.1_Missense_Mutation_p.T482I NM_001080513 NP_001073982 P22792 CPN2_HUMAN Homo sapiens carboxypeptidase N, polypeptide 2 (CPN2), mRNA. 482 protein stabilization extracellular region enzyme regulator activity breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(5)|prostate(1) 27 all_cancers(143;5.31e-09)|Ovarian(172;0.0634) OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;4.65e-05) GTTGCTGTAGGTGCACTGGCT 0.672000 81 13 0 0 0.105934 0 0 MYH1 4619 broad.mit.edu 37 17 10411809 10411810 + Missense_Mutation DNP CC TT TT TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr17:10411809_10411810CC>TT uc002gmo.3 - 15 1861_1862 c.1767_1768GG>AA c.(1765-1770)gtggac>gtAAac p.D590N AK097500_uc002gml.1_Intron NM_005963 NP_005954 P12882 MYH1_HUMAN Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA. 590 Myosin head-like. muscle myosin complex|myofibril|myosin filament ATP binding|actin binding|calmodulin binding|motor activity NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5) 176 ATGTTGTAGTCCACGGTGCCAG 0.510000 67 6 0 0 0.115264 0 0 EPS8L1 54869 broad.mit.edu 37 19 55589497 55589497 + Splice_Site SNP G A A TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr19:55589497G>A uc002qis.4 + 3 162 c.58_splice c.e3+1 p.E20_splice EPS8L1_uc010ess.1_Intron|EPS8L1_uc010est.1_Splice_Site_p.E20_splice|EPS8L1_uc010yfr.2_Intron|EPS8L1_uc010esu.1_Splice_Site|EPS8L1_uc002qiu.3_5'Flank NM_133180 NP_573441 Q8TE68 ES8L1_HUMAN Homo sapiens EPS8-like 1 (EPS8L1), transcript variant 1, mRNA. 20 cytoplasm NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|prostate(1) 12 BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.044) TCTATCTATGGTGAGCGGGGG 0.587000 40 9 0 0 0.069234 0 0 INADL 10207 broad.mit.edu 37 1 62330219 62330219 + Missense_Mutation SNP G A A TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr1:62330219G>A uc001dab.3 + 19 2863 c.2749G>A c.(2749-2751)Gaa>Aaa p.E917K INADL_uc009waf.1_Missense_Mutation_p.E917K|INADL_uc001daa.2_Missense_Mutation_p.E917K|INADL_uc001dad.3_Missense_Mutation_p.E614K|INADL_uc001dac.3_Non-coding_Transcript NM_176877 NP_795352 Q8NI35 INADL_HUMAN Homo sapiens InaD-like (Drosophila) (INADL), mRNA. 917 intracellular signal transduction|tight junction assembly apical plasma membrane|perinuclear region of cytoplasm|tight junction protein binding breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3) 103 GCATGATAATGAACCATCCGA 0.488000 122 14 0 0 0.038395 0 0 DPP10 57628 broad.mit.edu 37 2 116283490 116283490 + Missense_Mutation SNP C T T TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr2:116283490C>T uc002tle.3 + 4 416 c.395C>T c.(394-396)tCa>tTa p.S132L DPP10_uc002tla.2_Missense_Mutation_p.S128L|DPP10_uc021vnb.1_Non-coding_Transcript|DPP10_uc002tlb.2_Missense_Mutation_p.S78L|DPP10_uc002tlc.2_Missense_Mutation_p.S124L|DPP10_uc002tlf.2_Missense_Mutation_p.S121L NM_001178034 NP_001171505 Q8N608 DPP10_HUMAN Homo sapiens dipeptidyl-peptidase 10 (non-functional) (DPP10), transcript variant 3, mRNA. 128 proteolysis integral to membrane|membrane fraction serine-type peptidase activity breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1) 101 TTCAAAGCATCAAGACATTCA 0.279000 23 4 0 0 0.009096 0 0 CYP4F11 57834 broad.mit.edu 37 19 16034661 16034661 + Silent SNP G A A TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr19:16034661G>A uc002nbu.2 - 6 915 c.879C>T c.(877-879)tcC>tcT p.S293S CYP4F11_uc010eab.1_Silent_p.S293S|CYP4F11_uc002nbt.2_Silent_p.S293S NM_001128932 NP_067010 Q9HBI6 CP4FB_HUMAN Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 11 (CYP4F11), transcript variant 2, mRNA. 293 inflammatory response|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome aromatase activity|electron carrier activity|heme binding NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3) 25 CTAAAGTCTTGGACTTTGCCT 0.493000 143 18 0 0 0.062417 0 0 ARID2 196528 broad.mit.edu 37 12 46230641 46230641 + Missense_Mutation SNP C T T TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr12:46230641C>T uc001ros.1 + 7 890 c.890C>T c.(889-891)tCc>tTc p.S297F ARID2_uc001ror.3_Missense_Mutation_p.S297F|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. 297 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 116 Lung SC(27;0.192)|Renal(347;0.236) Lung NSC(34;0.106)|all_lung(34;0.22) OV - Ovarian serous cystadenocarcinoma(5;0.00691) GBM - Glioblastoma multiforme(48;0.0153) AGAAATCTTTCCTTTGAGGAG 0.398000 """N, S, F""" hepatocellular carcinoma 88 15 0 0 0.038395 0 0 GPR98 84059 broad.mit.edu 37 5 89924464 89924464 + Missense_Mutation SNP C T T TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr5:89924464C>T uc003kju.3 + 7 1420 c.1324C>T c.(1324-1326)Ccc>Tcc p.P442S GPR98_uc003kjt.3_5'UTR NM_032119 NP_115495 Q8WXG9 GPR98_HUMAN Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA. 442 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) CAGCACTGATCCCTCACCAGT 0.438000 83 11 0 0 0.093190 0 0 ZNF318 24149 broad.mit.edu 37 6 43323502 43323502 + Frame_Shift_Del DEL T - - TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr6:43323502delT uc003oux.3 - 3 1648 c.1570delA c.(1570-1572)aggfs p.R524fs ZNF318_uc003ouw.3_Non-coding_Transcript NM_014345 NP_055160 Q5VUA4 ZN318_HUMAN Homo sapiens zinc finger protein 318 (ZNF318), mRNA. 524 meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus nucleic acid binding|zinc ion binding autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 61 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579) CTACGTCGCCTTTTTTCCTGT 0.493 --- 348 --- --- 8 --- CIZ1 25792 broad.mit.edu 37 9 130953109 130953111 + In_Frame_Del DEL GCT - - TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr9:130953109_130953111delGCT uc011mas.2 - 1 281_283 c.116_118delAGC c.(115-120)cagctc>ctc p.Q39del CIZ1_uc004btr.3_In_Frame_Del_p.Q9del|CIZ1_uc004bts.3_In_Frame_Del_p.Q9del|CIZ1_uc011maq.2_In_Frame_Del_p.Q9del|CIZ1_uc004btu.3_In_Frame_Del_p.Q9del|CIZ1_uc004btt.3_In_Frame_Del_p.Q9del|CIZ1_uc011mar.2_5'UTR|CIZ1_uc004btw.3_In_Frame_Del_p.Q9del|CIZ1_uc004btv.3_In_Frame_Del_p.Q9del|CIZ1_uc004btx.2_In_Frame_Del_p.Q9del NM_012127 NP_036259 Q9ULV3 CIZ1_HUMAN Homo sapiens CDKN1A interacting zinc finger protein 1 (CIZ1), transcript variant 1, mRNA. 9 Gln-rich. nucleus nucleic acid binding|protein binding|zinc ion binding NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|liver(1)|lung(9)|ovary(3)|prostate(2)|urinary_tract(2) 35 tgttgctggagctgctgctgctg 0.611 --- 5 --- --- 3 --- PTEN 5728 broad.mit.edu 37 10 89692971 89692972 + Frame_Shift_Ins INS - A A TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr10:89692971_89692972insA uc001kfb.3 + 4 1487_1488 c.455_456insA c.(454-456)ctafs p.L152fs PTEN_uc021pvw.1_Non-coding_Transcript NM_000314 NP_000305 P60484 PTEN_HUMAN Homo sapiens phosphatase and tensin homolog (PTEN), mRNA. 152 Phosphatase tensin-type. T cell receptor signaling pathway|activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development PML body|cytosol|internal side of plasma membrane PDZ domain binding|anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity p.0?(37)|p.?(5)|p.R55fs*1(5)|p.A151T(5)|p.L152P(4)|p.Y27fs*1(2)|p.L152R(2)|p.Y27_N212>Y(2)|p.A151D(1)|p.L152V(1)|p.F56fs*2(1) NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17) 2771 all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132) KIRC - Kidney renal clear cell carcinoma(1;0.214) UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218) CAAGAGGCCCTAGATTTCTATG 0.381 31 """D, Mis, N, F, S""" """glioma, prostate, endometrial""" """harmartoma, glioma, prostate, endometrial""" Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18) --- 78 --- --- 8 --- SCUBE2 57758 broad.mit.edu 37 11 9113009 9113011 + In_Frame_Del DEL GCA - - rs72509739 TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr11:9113009_9113011delGCA uc001mhi.2 - 0 140_142 c.65_67delTGC c.(64-69)ctgccg>ccg p.L22del SCUBE2_uc001mhj.2_In_Frame_Del_p.L22del|KRT8P41_uc010rbv.1_5'Flank NM_020974 NP_066025 Q9NQ36 SCUB2_HUMAN Homo sapiens signal peptide, CUB domain, EGF-like 2 (SCUBE2), transcript variant 1, mRNA. 22 extracellular region calcium ion binding breast(1)|endometrium(5)|kidney(3)|large_intestine(15)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 42 all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116) agcagtggcggcagcagcagcag 0.788 --- 2 --- --- 4 --- BBS1 582 broad.mit.edu 37 11 66299205 66299209 + Frame_Shift_Del DEL ATCAT - - TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr11:66299205_66299209delATCAT uc001oii.1 + 15 1876_1880 c.1798_1802delATCAT c.(1798-1803)atcatcfs p.I600fs BBS1_uc001oil.1_Frame_Shift_Del_p.I434fs|BBS1_uc010rpg.1_Frame_Shift_Del_p.I466fs|BBS1_uc001oij.1_Frame_Shift_Del_p.I563fs|BBS1_uc001oik.1_Frame_Shift_Del_p.I487fs|ZDHHC24_uc009yrg.2_Intron|BBS1_uc010rph.1_Frame_Shift_Del_p.I231fs NM_024649 NP_078925 Q8NFJ9 BBS1_HUMAN Homo sapiens Bardet-Biedl syndrome 1 (BBS1), mRNA. 563 nonmotile primary cilium assembly|photoreceptor cell maintenance|response to stimulus|retina homeostasis BBSome|cilium membrane|cytoplasm protein binding NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1) 28 CATCTCAGACATCATCAAGGTAGGC 0.561 Bardet-Biedl syndrome --- 138 --- --- 11 --- C19orf55 148137 broad.mit.edu 37 19 36255947 36255949 + In_Frame_Del DEL CTC - - TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr19:36255947_36255949delCTC uc021usz.1 + 6 712_714 c.639_641delCTC c.(637-642)atctcc>atc p.S218del NM_001039887 NP_001034976 Q2NL68 CS055_HUMAN Homo sapiens chromosome 19 open reading frame 55 (C19orf55), mRNA. 218 Ser-rich. cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|prostate(1) 15 all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) AAGCCTCCATCTCCTCCTCCTCC 0.631 --- 349 --- --- 7 --- FLT3LG 2323 broad.mit.edu 37 19 49978960 49978962 + In_Frame_Del DEL CTG - - TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr19:49978960_49978962delCTG uc002pnu.3 + 2 156_158 c.46_48delCTG c.(46-48)ctgdel p.L20del FLT3LG_uc002pnw.3_5'UTR|FLT3LG_uc010yau.2_In_Frame_Del_p.L20del|FLT3LG_uc002pnv.3_5'UTR|FLT3LG_uc002pnx.3_In_Frame_Del_p.L20del|FLT3LG_uc010yav.2_5'UTR NM_001459 NP_001450 P49771 FLT3L_HUMAN Homo sapiens fms-related tyrosine kinase 3 ligand (FLT3LG), transcript variant 3, mRNA. 20 positive regulation of cell proliferation|signal transduction extracellular space|integral to membrane|plasma membrane|soluble fraction cytokine activity large_intestine(2)|lung(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 10 all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392) OV - Ovarian serous cystadenocarcinoma(262;0.00154)|GBM - Glioblastoma multiforme(486;0.0246) CTATCTCCTCCTGCTGCTGCTGC 0.621 --- 118 --- --- 7 --- SF3A1 10291 broad.mit.edu 37 22 30742328 30742330 + In_Frame_Del DEL CTG - - rs141985009 byFrequency TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chr22:30742328_30742330delCTG uc003ahl.3 - 2 496_498 c.364_366delCAG c.(364-366)cagdel p.Q122del SF3A1_uc021wnt.1_Intron NM_005877 NP_005868 Q15459 SF3A1_HUMAN Homo sapiens splicing factor 3a, subunit 1, 120kDa (SF3A1), transcript variant 1, mRNA. 122 Poly-Gln. nuclear mRNA 3'-splice site recognition U2-type spliceosomal complex|catalytic step 2 spliceosome|nucleoplasm RNA binding|protein binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|urinary_tract(1) 29 GCTGGGTGGTCTGCTGCTGCTGC 0.606 --- 144 --- --- 7 --- MBTPS2 51360 broad.mit.edu 37 X 21857869 21857871 + In_Frame_Del DEL TGG - - TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chrX:21857869_21857871delTGG uc004dae.3 + 0 214_216 c.17_19delTGG c.(16-21)ctggtg>ctg p.V11del MBTPS2_uc004dab.2_In_Frame_Del_p.V11del NM_015884 NP_056968 O43462 MBTP2_HUMAN Homo sapiens membrane-bound transcription factor peptidase, site 2 (MBTPS2), mRNA. 11 cholesterol metabolic process|proteolysis Golgi membrane|integral to membrane metal ion binding|metalloendopeptidase activity breast(2)|endometrium(3)|large_intestine(3)|lung(13)|ovary(1)|skin(2) 24 CCGGTGTCGCTGGTGGTGGTGGT 0.685 --- 4 --- --- 2 --- PASD1 139135 broad.mit.edu 37 X 150817142 150817144 + In_Frame_Del DEL GCT - - TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926eb11d-b441-480d-ae96-8d746c05b61f a38db221-5203-444d-afa1-b3c9ba6564f7 g.chrX:150817142_150817144delGCT uc004fev.4 + 8 1017_1019 c.685_687delGCT c.(685-687)gctdel p.A236del NM_173493 NP_775764 Q8IV76 PASD1_HUMAN Homo sapiens PAS domain containing 1 (PASD1), mRNA. 236 Poly-Ala. nucleus signal transducer activity p.A229A(2)|p.A235D(1) breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 48 Acute lymphoblastic leukemia(192;6.56e-05) CGTTGAACCCgctgctgctgctg 0.433 --- 110 --- --- 7 ---