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 FANCA 2175 broad.mit.edu 37 16 89849491 89849491 + Missense_Mutation SNP G A A TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr16:89849491G>A uc002fou.1 - 15 1532 c.1490C>T c.(1489-1491)cCc>cTc p.P497L FANCA_uc010vpn.1_Missense_Mutation_p.P497L NM_000135 NP_000126 O15360 FANCA_HUMAN Homo sapiens Fanconi anemia, complementation group A (FANCA), transcript variant 1, mRNA. 497 DNA repair|protein complex assembly cytoplasm|nucleoplasm protein binding breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3) 47 Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194) BRCA - Breast invasive adenocarcinoma(80;0.028) GGGAACCAGGGGTGGGTGGAG 0.587000 """D, Mis, N, F, S""" """AML, leukemia""" Involved in tolerance or repair of DNA crosslinks Fanconi Anemia 29 7 0 0 0.001984 0 0 OR51F2 119694 broad.mit.edu 37 11 4842823 4842823 + Missense_Mutation SNP C T T rs113742153 byFrequency TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr11:4842823C>T uc010qyn.2 + 0 208 c.208C>T c.(208-210)Cat>Tat p.H70Y NM_001004753 NP_001004753 Q8NH61 O51F2_HUMAN Homo sapiens olfactory receptor, family 51, subfamily F, member 2 (OR51F2), mRNA. 70 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|endometrium(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2) 33 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778) Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19) ACGGAGCCTCCATAAGCCTAT 0.473000 72 49 0 0 0.003610 0 0 FASN 2194 broad.mit.edu 37 17 80043386 80043387 + Missense_Mutation DNP GG AA AA TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr17:80043386_80043387GG>AA uc002kdu.3 - 22 4210_4211 c.4093_4094CC>TT c.(4093-4095)ccg>TTg p.P1365L FASN_uc002kdw.1_Missense_Mutation_p.P581L NM_004104 NP_004095 P49327 FAS_HUMAN Homo sapiens fatty acid synthase (FASN), mRNA. 1365 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 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) GCCATACTGCGGCTCAGTGGAG 0.718000 7 5 0 0 0.004672 0 0 MRAP2 112609 broad.mit.edu 37 6 84799149 84799149 + Missense_Mutation SNP T G G TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr6:84799149T>G uc003pkg.4 + 3 757 c.567T>G c.(565-567)atT>atG p.I189M MRAP2_uc010kbo.3_Missense_Mutation_p.I103M NM_138409 NP_612418 Q96G30 MRAP2_HUMAN Homo sapiens melanocortin 2 receptor accessory protein 2 (MRAP2), mRNA. 189 positive regulation of cAMP biosynthetic process|protein localization at cell surface endoplasmic reticulum|plasma membrane corticotropin hormone receptor binding|type 1 melanocortin receptor binding|type 3 melanocortin receptor binding|type 4 melanocortin receptor binding|type 5 melanocortin receptor binding NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(4)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1) 19 AACCACCTATTGTTCTGGAAA 0.438000 25 16 0 0 0.004007 0 0 CAMTA1 23261 broad.mit.edu 37 1 7724386 7724386 + Silent SNP G A A TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr1:7724386G>A uc001aoi.3 + 8 1986 c.1779G>A c.(1777-1779)aaG>aaA p.K593K NM_015215 NP_056030 Q9Y6Y1 CMTA1_HUMAN Homo sapiens calmodulin binding transcription activator 1 (CAMTA1), transcript variant 1, mRNA. 593 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus calmodulin binding breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 85 Ovarian(185;0.0634) all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388) UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133) ACTCCAACAAGGACTACACGT 0.677000 T WWTR1 epitheliod hemangioendothelioma 49 29 0 0 0.006320 0 0 TMEM209 84928 broad.mit.edu 37 7 129825207 129825207 + Splice_Site SNP C T T TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr7:129825207C>T uc003vpn.2 - 7 899 c.776_splice c.e7-1 p.G259_splice TMEM209_uc010lmc.1_Splice_Site_p.G259_splice NM_032842 NP_116231 Q96SK2 TM209_HUMAN Homo sapiens transmembrane protein 209 (TMEM209), mRNA. 259 integral to membrane NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(2)|skin(1) 12 Melanoma(18;0.0435) ATCTGGGCTCCCTACAATTGT 0.398000 107 47 0 0 0.003610 0 0 DHX37 57647 broad.mit.edu 37 12 125453415 125453415 + Nonsense_Mutation SNP T A A TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr12:125453415T>A uc001ugy.3 - 8 1390 c.1291A>T c.(1291-1293)Aag>Tag p.K431* NM_032656 NP_116045 Q8IY37 DHX37_HUMAN Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 37 (DHX37), mRNA. 431 ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3) 65 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653) TGTGTTACCTTGATGACCGGC 0.627000 18 7 0 0 0.006214 0 0 SRRM2 23524 broad.mit.edu 37 16 2817118 2817118 + Missense_Mutation SNP C T T TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr16:2817118C>T uc002crk.3 + 10 7138 c.6589C>T c.(6589-6591)Ccg>Tcg p.P2197S SRRM2_uc002crj.1_Missense_Mutation_p.P2101S|SRRM2_uc002crl.1_Missense_Mutation_p.P2197S|SRRM2_uc010bsu.1_Missense_Mutation_p.P2101S NM_016333 NP_057417 Q9UQ35 SRRM2_HUMAN Homo sapiens serine/arginine repetitive matrix 2 (SRRM2), mRNA. 2197 Ala-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 TCGGCCTCCTCCGTCCATGTC 0.572000 39 27 0 0 0.006320 0 0 KCNB2 9312 broad.mit.edu 37 8 73848398 73848398 + Missense_Mutation SNP G A A TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr8:73848398G>A uc003xzb.3 + 2 1396 c.808G>A c.(808-810)Gat>Aat p.D270N NM_004770 NP_004761 Q92953 KCNB2_HUMAN Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 2 (KCNB2), mRNA. 270 regulation of smooth muscle contraction voltage-gated potassium channel complex delayed rectifier potassium channel activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1) 85 Breast(64;0.137) Epithelial(68;0.105) GAATGTCATTGATTTGCTGGC 0.468000 53 32 0 0 0.002836 0 0 EML5 161436 broad.mit.edu 37 14 89091324 89091324 + Nonsense_Mutation SNP T A A TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr14:89091324T>A uc021ryf.1 - 34 5137 c.4888A>T c.(4888-4890)Aag>Tag p.K1630* EML5_uc001xxf.3_Nonsense_Mutation_p.K417*|EML5_uc021ryg.1_Nonsense_Mutation_p.K1630*|EML5_uc001xxh.1_Nonsense_Mutation_p.K761* NM_183387 NP_899243 Q05BV3 EMAL5_HUMAN Homo sapiens echinoderm microtubule associated protein like 5 (EML5), mRNA. 1622 cytoplasm|microtubule breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 50 GGCCTTTCCTTTCCCCCAGTC 0.453000 21 19 0 0 0.001523 0 0 FAM170A 340069 broad.mit.edu 37 5 118970427 118970427 + Silent SNP G A A TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr5:118970427G>A uc003ksm.2 + 2 1194 c.984G>A c.(982-984)agG>agA p.R328R FAM170A_uc003ksl.2_Intron|FAM170A_uc003ksn.3_Silent_p.R328R|FAM170A_uc003kso.3_Silent_p.R281R NM_182761 NP_877438 A1A519 F170A_HUMAN Homo sapiens family with sequence similarity 170, member A (FAM170A), transcript variant 1, mRNA. 328 intracellular zinc ion binding breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 24 CAAAGGACAGGAAGTGAGCAA 0.552000 39 25 0 0 0.004656 0 0 MCHR2 84539 broad.mit.edu 37 6 100395841 100395841 + Silent SNP C T T TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr6:100395841C>T uc003pqh.1 - 2 504 c.189G>A c.(187-189)agG>agA p.R63R MCHR2_uc003pqi.1_Silent_p.R63R NM_001040179 NP_115892 Q969V1 MCHR2_HUMAN Homo sapiens melanin-concentrating hormone receptor 2 (MCHR2), transcript variant 1, mRNA. 63 R -> K (no changes in receptor binding or functional signaling). integral to membrane|plasma membrane G-protein coupled receptor activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 39 all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069) BRCA - Breast invasive adenocarcinoma(108;0.0429) CTGTTTTTTTCCTGGATCTGA 0.403000 30 7 0 0 0.004482 0 0 TMED10P1 286102 broad.mit.edu 37 8 146220662 146220662 + Missense_Mutation SNP G A A TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr8:146220662G>A uc003zey.3 + 0 412 c.391G>A c.(391-393)Gag>Aag p.E131K ZNF252P_uc003zew.4_Intron|ZNF252P_uc011llo.2_Intron Homo sapiens transmembrane emp24-like trafficking protein 10 (yeast) pseudogene 1 (TMED10P1), non-coding RNA. GCATGGAGTGGAGGTGAAAAA 0.408000 59 21 0 0 0.003330 0 0 RTN3 10313 broad.mit.edu 37 11 63449115 63449115 + Missense_Mutation SNP G C C TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr11:63449115G>C uc001nxq.3 + 0 194 c.7G>C c.(7-9)Gag>Cag p.E3Q RTN3_uc001nxp.3_Missense_Mutation_p.E3Q|RTN3_uc009yov.3_Missense_Mutation_p.E3Q|RTN3_uc010rmt.2_Non-coding_Transcript|RTN3_uc010rmu.2_Missense_Mutation_p.E3Q|RTN3_uc001nxm.3_Missense_Mutation_p.E3Q|RTN3_uc001nxn.3_Missense_Mutation_p.E3Q|RTN3_uc001nxo.3_Missense_Mutation_p.E3Q NM_201428 NP_958831 O95197 RTN3_HUMAN Homo sapiens reticulon 3 (RTN3), transcript variant 2, mRNA. 3 apoptosis|endoplasmic reticulum tubular network organization|interspecies interaction between organisms|response to stress|vesicle-mediated transport Golgi membrane|endoplasmic reticulum membrane|extracellular space|integral to membrane cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|urinary_tract(1) 20 AGCCATGGCGGAGCCGTCGGC 0.677000 34 13 0 0 0.002450 0 0 SLK 9748 broad.mit.edu 37 10 105762870 105762870 + Missense_Mutation SNP C T T TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr10:105762870C>T uc001kxo.1 + 8 1968 c.1934C>T c.(1933-1935)tCa>tTa p.S645L SLK_uc001kxp.1_Missense_Mutation_p.S645L NM_014720 NP_055535 Q9H2G2 SLK_HUMAN Homo sapiens STE20-like kinase (SLK), mRNA. 645 Glu-rich. apoptosis|nucleotide-excision repair cytoplasm|plasma membrane ATP binding|DNA binding|nuclease activity|protein serine/threonine kinase activity kidney(1)|lung(1)|ovary(2)|skin(2)|stomach(2) 8 Colorectal(252;0.178) Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165) ATCACTGAGTCAAGTAGCACT 0.408000 19 7 0 0 0.001984 0 0 EBNA1BP2 10969 broad.mit.edu 37 1 43632897 43632897 + Missense_Mutation SNP C T T TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr1:43632897C>T uc010ojx.2 - 6 861 c.712G>A c.(712-714)Gag>Aag p.E238K EBNA1BP2_uc001cio.3_Missense_Mutation_p.E238K|EBNA1BP2_uc001cin.3_Missense_Mutation_p.E183K NM_001159936 NP_006815 Q99848 EBP2_HUMAN Homo sapiens EBNA1 binding protein 2 (EBNA1BP2), transcript variant 1, mRNA. 183 ribosome biogenesis membrane fraction|nucleolus protein binding endometrium(1)|kidney(2)|large_intestine(4)|lung(9) 16 Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) TGAAGAACCTCCGTTTGCACC 0.423000 76 45 0 0 0.003610 0 0 STRC 161497 broad.mit.edu 37 15 43893647 43893648 + Missense_Mutation DNP CC TT TT TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr15:43893647_43893648CC>TT uc001zsf.3 - 23 4725_4726 c.4647_4648GG>AA c.(4645-4650)gtggac>gtAAac p.D1550N STRC_uc010bdl.3_Missense_Mutation_p.D777N|STRC_uc001zse.3_Missense_Mutation_p.D68N NM_153700 NP_714544 Q7RTU9 STRC_HUMAN Homo sapiens stereocilin (STRC), mRNA. 1550 sensory perception of sound cell surface skin(4) 4 all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;3.56e-07) ACTCCCCAGTCCACTAGGATCA 0.574000 22 34 0 0 0.004672 0 0 MYLK3 91807 broad.mit.edu 37 16 46773972 46773972 + Missense_Mutation SNP C T T TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr16:46773972C>T uc002eei.4 - 1 681 c.565G>A c.(565-567)Gaa>Aaa p.E189K MYLK3_uc010vge.2_5'UTR|MYLK3_uc002eej.1_5'Flank NM_182493 NP_872299 Q32MK0 MYLK3_HUMAN Homo sapiens myosin light chain kinase 3 (MYLK3), mRNA. 189 cardiac myofibril assembly|cellular response to interleukin-1|positive regulation of sarcomere organization|regulation of vascular permeability involved in acute inflammatory response|sarcomere organization|sarcomerogenesis cytosol ATP binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(5)|stomach(3) 37 all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116) CACTCACCTTCCCCAGGCTCC 0.498000 73 52 0 0 0.003610 0 0 MEGF10 84466 broad.mit.edu 37 5 126753435 126753435 + Silent SNP C T T TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr5:126753435C>T uc003kuh.4 + 10 1598 c.1236C>T c.(1234-1236)atC>atT p.I412I MEGF10_uc010jdc.1_Silent_p.I412I|MEGF10_uc010jdd.1_Silent_p.I412I|MEGF10_uc003kui.4_Silent_p.I412I NM_032446 NP_115822 Q96KG7 MEG10_HUMAN Homo sapiens multiple EGF-like-domains 10 (MEGF10), mRNA. 412 EGF-like 7.|Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern. cell adhesion|phagocytosis basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 68 Prostate(80;0.165) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123) GCCAGCAGATCTGCAGCTGCC 0.547000 45 21 0 0 0.001523 0 0 SELE 6401 broad.mit.edu 37 1 169697314 169697314 + Silent SNP G A A TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr1:169697314G>A uc001ggm.4 - 7 1321 c.1164C>T c.(1162-1164)ttC>ttT p.F388F C1orf112_uc001ggj.3_Intron NM_000450 NP_000441 P16581 LYAM2_HUMAN Homo sapiens selectin E (SELE), mRNA. 388 Sushi 4. actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 32 all_hematologic(923;0.208) ACCCATAACGGAAACTGCCAG 0.517000 44 25 0 0 0.003954 0 0 OR6C6 283365 broad.mit.edu 37 12 55688891 55688891 + Silent SNP G A A TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr12:55688891G>A uc010sph.2 - 0 126 c.126C>T c.(124-126)atC>atT p.I42I NM_001005493 NP_001005493 A6NF89 OR6C6_HUMAN Homo sapiens olfactory receptor, family 6, subfamily C, member 6 (OR6C6), mRNA. 42 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 GGATGATGATGATTAAGTTCC 0.418000 24 13 0 0 0.001855 0 0 PCLO 27445 broad.mit.edu 37 7 82583262 82583262 + Missense_Mutation SNP G A A TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr7:82583262G>A uc003uhx.2 - 4 7296 c.7007C>T c.(7006-7008)tCc>tTc p.S2336F PCLO_uc003uhv.2_Missense_Mutation_p.S2336F|PCLO_uc010lec.3_5'Flank NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA. 2267 Poly-Pro.|Pro-rich. cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 CACGGTTTCGGATAAGCTACT 0.423000 76 92 0 0 0.003610 0 0 TRHDE 29953 broad.mit.edu 37 12 72893288 72893289 + Missense_Mutation DNP GG AA AA TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr12:72893288_72893289GG>AA uc001sxa.3 + 5 1490_1491 c.1460_1461GG>AA c.(1459-1461)agg>aAA p.R487K NM_013381 NP_037513 Q9UKU6 TRHDE_HUMAN Homo sapiens thyrotropin-releasing hormone degrading enzyme (TRHDE), mRNA. 487 cell-cell signaling|proteolysis|signal transduction integral to plasma membrane aminopeptidase activity|metallopeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 79 GAAAAGCAGAGGTTTCTGACCG 0.441000 15 13 0 0 0.004672 0 0 FSIP2 401024 broad.mit.edu 37 2 186672022 186672022 + Missense_Mutation SNP G A A TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr2:186672022G>A uc002upl.3 + 16 18256 c.18256G>A c.(18256-18258)Gaa>Aaa p.E6086K FSIP2_uc002upm.3_Intron NM_173651 NP_775922 Homo sapiens fibrous sheath interacting protein 2 (FSIP2), mRNA. NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2) 69 AGCCAGCAAAGAATGTCAAAC 0.348000 26 12 0 0 0.001368 0 0 TMC5 79838 broad.mit.edu 37 16 19488761 19488761 + Splice_Site SNP G A A TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr16:19488761G>A uc002dgc.4 + 13 2840 c.2091_splice c.e13-1 p.R697_splice TMC5_uc010vaq.2_Splice_Site_p.R645_splice|TMC5_uc002dgb.4_Splice_Site_p.R697_splice|TMC5_uc010var.2_Splice_Site_p.R697_splice|TMC5_uc002dgd.1_Splice_Site_p.R451_splice|TMC5_uc002dge.4_Splice_Site_p.R451_splice|TMC5_uc002dgf.4_Splice_Site_p.R380_splice|TMC5_uc002dgg.4_Splice_Site_p.R338_splice NM_001105248 NP_001098718 Q6UXY8 TMC5_HUMAN Homo sapiens transmembrane channel-like 5 (TMC5), transcript variant 1, mRNA. 697 integral to membrane NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 31 CTTCTGTTTAGAAACATCTTT 0.398000 42 24 0 0 0.003330 0 0 F10 2159 broad.mit.edu 37 13 113783888 113783888 + Missense_Mutation SNP G A A TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr13:113783888G>A uc001vsx.3 + 1 250 c.193G>A c.(193-195)Gaa>Aaa p.E65K F10_uc010agq.1_Non-coding_Transcript|F10_uc001vsy.3_Missense_Mutation_p.E65K NM_000504 NP_000495 P00742 FA10_HUMAN Homo sapiens coagulation factor X (F10), mRNA. 65 Gla. blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of cell migration|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis Golgi lumen|endoplasmic reticulum lumen|extracellular region calcium ion binding|phospholipid binding|protein binding|serine-type endopeptidase activity endometrium(2)|large_intestine(4)|lung(10)|pancreas(1)|stomach(1) 18 all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163) all_cancers(25;0.113)|all_lung(25;0.0364)|all_epithelial(44;0.0373)|Lung NSC(25;0.128)|Breast(118;0.188) all cancers(43;0.0805)|Epithelial(84;0.231) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Enoxaparin(DB01225)|Heparin(DB01109)|Menadione(DB00170)|Reteplase(DB00015)|Tenecteplase(DB00031) CTGCTCATACGAAGAGGCCCG 0.572000 55 14 0 0 0.004007 0 0 FSTL4 23105 broad.mit.edu 37 5 132535090 132535090 + Silent SNP G A A TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr5:132535090G>A uc003kyn.1 - 15 2444 c.2226C>T c.(2224-2226)tcC>tcT p.S742S FSTL4_uc003kym.1_Silent_p.S391S NM_015082 NP_055897 Q6MZW2 FSTL4_HUMAN Homo sapiens follistatin-like 4 (FSTL4), mRNA. 742 extracellular region calcium ion binding autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(8)|skin(2)|upper_aerodigestive_tract(1) 23 all_cancers(142;0.244) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) TTTCAGTGAAGGAGCGCTGGA 0.577000 54 26 0 0 0.005443 0 0 MLL3 58508 broad.mit.edu 37 7 151970806 151970806 + Silent SNP G A A TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr7:151970806G>A uc003wla.3 - 6 1215 c.996C>T c.(994-996)gaC>gaT p.D332D NM_170606 NP_733751 Q8NEZ4 MLL3_HUMAN Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA. 332 intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent DNA binding|protein binding|zinc ion binding NS(6)|biliary_tract(9)|breast(24)|central_nervous_system(18)|cervix(6)|endometrium(31)|haematopoietic_and_lymphoid_tissue(1)|kidney(26)|large_intestine(52)|liver(1)|lung(102)|ovary(10)|pancreas(17)|prostate(15)|skin(20)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(8)|urinary_tract(15) 365 all_neural(206;0.187) all_hematologic(28;0.0592)|Prostate(32;0.0906) OV - Ovarian serous cystadenocarcinoma(82;0.00715) UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462) CAGGAGCTTGGTCAATGTGTT 0.383000 N medulloblastoma 165 7 0 0 0.004482 0 0 C8orf74 203076 broad.mit.edu 37 8 10557906 10557906 + Silent SNP C T T TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr8:10557906C>T uc003wtd.1 + 3 839 c.810C>T c.(808-810)acC>acT p.T270T C8orf74_uc003wte.1_Non-coding_Transcript NM_001040032 NP_001035121 Q6P047 CH074_HUMAN Homo sapiens chromosome 8 open reading frame 74 (C8orf74), mRNA. 270 central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1) 13 COAD - Colon adenocarcinoma(149;0.0811) CCCCCATCACCAGCCACGCAG 0.582000 18 14 0 0 0.001855 0 0 SHE 126669 broad.mit.edu 37 1 154461714 154461714 + Silent SNP G A A TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr1:154461714G>A uc001ffb.3 - 2 861 c.837C>T c.(835-837)tcC>tcT p.S279S SHE_uc001ffc.3_Non-coding_Transcript NM_001010846 NP_001010846 Q5VZ18 SHE_HUMAN Homo sapiens Src homology 2 domain containing E (SHE), mRNA. 279 breast(4)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1) 14 all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088) LUSC - Lung squamous cell carcinoma(543;0.185) GGAGGTCCTTGGAACTCCGTC 0.632000 49 29 0 0 0.005443 0 0 ZFP112 7771 broad.mit.edu 37 19 44832316 44832316 + Missense_Mutation SNP C T T TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr19:44832316C>T uc010xwy.2 - 4 2181 c.2063G>A c.(2062-2064)gGt>gAt p.G688D ZFP112_uc010ejj.3_Missense_Mutation_p.G671D|ZFP112_uc002ozc.4_Missense_Mutation_p.G665D|ZFP112_uc010xwz.2_Missense_Mutation_p.G670D NM_013380 NP_037512 Q9UJU3 ZF112_HUMAN Homo sapiens zinc finger protein 112 homolog (mouse) (ZFP112), transcript variant 2, mRNA. 671 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(1)|lung(8)|ovary(3)|prostate(4)|skin(3) 41 GAAGCCTTTACCACATTCTTC 0.448000 14 22 0 0 0.001523 0 0 RIMKLA 284716 broad.mit.edu 37 1 42880262 42880262 + Missense_Mutation SNP G A A TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr1:42880262G>A uc001chi.2 + 4 931 c.793G>A c.(793-795)Gac>Aac p.D265N NM_173642 NP_775913 Q8IXN7 RIMKA_HUMAN Homo sapiens ribosomal modification protein rimK-like family member A (RIMKLA), mRNA. 265 ATP-grasp. protein modification process cytoplasm ATP binding|acid-amino acid ligase activity|metal ion binding p.D224H(1)|p.N264N(1) NS(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 13 CCTTATCATGGACGATGGCTC 0.502000 169 94 0 0 0.003610 0 0 BCAP31 10134 broad.mit.edu 37 X 152981107 152981107 + Silent SNP C T T TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chrX:152981107C>T uc004fid.2 - 3 862 c.432G>A c.(430-432)acG>acA p.T144T BCAP31_uc011myz.1_Silent_p.T77T|BCAP31_uc011mza.1_Silent_p.T77T|BCAP31_uc004fie.2_Silent_p.T77T NM_001139457 NP_005736 P51572 BAP31_HUMAN Homo sapiens B-cell receptor-associated protein 31 (BCAP31), transcript variant 1, mRNA. 77 cellular component disassembly involved in apoptosis|immune response|intracellular protein transport|vesicle-mediated transport ER-Golgi intermediate compartment membrane|cytosol|endoplasmic reticulum membrane|integral to plasma membrane receptor binding p.T77T(2) endometrium(2)|large_intestine(2)|lung(2)|prostate(1) 7 all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) TCACCTTTTCCGTCACATCAT 0.527000 20 58 0 0 0.003610 0 0 FAM86C1 55199 broad.mit.edu 37 11 71510680 71510680 + Missense_Mutation SNP G A A TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr11:71510680G>A uc001oqv.4 + 4 511 c.485G>A c.(484-486)aGa>aAa p.R162K FAM86C1_uc009ysr.3_Missense_Mutation_p.R155K|FAM86C1_uc001oqw.4_Missense_Mutation_p.R128K|FAM86C1_uc009yss.3_Non-coding_Transcript|FAM86C1_uc010rqq.2_Non-coding_Transcript|BC073927_uc001oqx.1_Intron NM_018172 NP_060642 Q9NVL1 FA86C_HUMAN Homo sapiens family with sequence similarity 86, member C1 (FAM86C1), transcript variant 1, mRNA. 162 lung(1) 1 AGCACTTGGAGATGGCAAAGC 0.478000 71 35 0 0 0.005524 0 0 FLNC 2318 broad.mit.edu 37 7 128486908 128486908 + Missense_Mutation SNP A C C TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr7:128486908A>C uc003vnz.4 + 23 4446 c.4237A>C c.(4237-4239)Act>Cct p.T1413P FLNC_uc003voa.4_Missense_Mutation_p.T1413P NM_001458 NP_001449 Q14315 FLNC_HUMAN Homo sapiens filamin C, gamma (FLNC), transcript variant 1, mRNA. 1413 cell junction assembly cytoskeleton|cytosol|plasma membrane|sarcomere actin binding biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2) 128 CATCCCCTTCACTCCTGGAGA 0.612000 73 30 0 0 0.002445 0 0 ATP2A2 488 broad.mit.edu 37 12 110765358 110765358 + Splice_Site SNP G A A TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr12:110765358G>A uc001tqk.4 + 8 1194 c.631_splice c.e8-1 p.G211_splice ATP2A2_uc001tql.4_Splice_Site_p.G211_splice|ATP2A2_uc021rdt.1_Splice_Site_p.G59_splice NM_170665 NP_733765 P16615 AT2A2_HUMAN Homo sapiens ATPase, Ca++ transporting, cardiac muscle, slow twitch 2 (ATP2A2), transcript variant b, mRNA. 211 G -> D (in DD; severe form). ATP biosynthetic process|cell adhesion|epidermis development|platelet activation|sarcoplasmic reticulum calcium ion transport integral to plasma membrane|microsome|platelet dense tubular network membrane|sarcoplasmic reticulum membrane ATP binding|S100 alpha binding|calcium-transporting ATPase activity|protein C-terminus binding NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1) 38 TCTGTCCTAGGGTACAAACAT 0.463000 141 66 0 0 0.003610 0 0 CCDC37 348807 broad.mit.edu 37 3 126137582 126137582 + Silent SNP G A A TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr3:126137582G>A uc010hsg.1 + 5 677 c.618G>A c.(616-618)agG>agA p.R206R CCDC37_uc003eiu.1_Silent_p.R205R NM_182628 NP_872434 Q494V2 CCD37_HUMAN Homo sapiens coiled-coil domain containing 37 (CCDC37), mRNA. 205 NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|skin(3) 23 GBM - Glioblastoma multiforme(114;0.166) AGTTCGTCAGGGAGAATGACT 0.667000 4 4 0 0 0.000602 0 0 PATL1 219988 broad.mit.edu 37 11 59420467 59420467 + Silent SNP C A A TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr11:59420467C>A uc001noe.4 - 9 1289 c.1146G>T c.(1144-1146)gcG>gcT p.A382A PATL1_uc009yms.1_Silent_p.A352A|PATL1_uc010rkw.2_Silent_p.A87A NM_152716 NP_689929 Q86TB9 PATL1_HUMAN Homo sapiens protein associated with topoisomerase II homolog 1 (yeast) (PATL1), mRNA. 382 Region N; interaction with decapping machinery. cytoplasmic mRNA processing body assembly|deadenylation-dependent decapping of nuclear-transcribed mRNA cytoplasmic mRNA processing body RNA binding|protein binding central_nervous_system(1)|endometrium(2)|lung(5)|ovary(1)|prostate(2) 11 CTCTATCTCCCGCACCATTGA 0.438000 174 5 0.00198382 0.00260511 0.001984 1 0 GIGYF2 26058 broad.mit.edu 37 2 233680381 233680381 + Silent SNP G A A TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr2:233680381G>A uc002vtj.4 + 20 2472 c.2205G>A c.(2203-2205)ctG>ctA p.L735L GIGYF2_uc010zmj.1_Silent_p.L714L|GIGYF2_uc002vtg.2_Silent_p.L708L|GIGYF2_uc002vti.4_Silent_p.L714L|GIGYF2_uc002vtk.4_Silent_p.L714L|GIGYF2_uc002vth.4_Silent_p.L708L|GIGYF2_uc010zmk.2_Non-coding_Transcript|GIGYF2_uc010zml.1_Silent_p.L545L|GIGYF2_uc002vtq.4_Silent_p.L47L NM_001103147 NP_001096617 Q6Y7W6 PERQ2_HUMAN Homo sapiens GRB10 interacting GYF protein 2 (GIGYF2), transcript variant 1, mRNA. 714 Gln-rich. cell death protein binding NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 63 Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839) Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145) ATCTTCCTCTGGACACCACGA 0.488000 28 21 0 0 0.001882 0 0 ENPEP 2028 broad.mit.edu 37 4 111398146 111398146 + Silent SNP C T T TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr4:111398146C>T uc003iab.4 + 0 918 c.576C>T c.(574-576)ttC>ttT p.F192F NM_001977 NP_001968 Q07075 AMPE_HUMAN Homo sapiens glutamyl aminopeptidase (aminopeptidase A) (ENPEP), mRNA. 192 cell migration|cell proliferation|cell-cell signaling|proteolysis integral to plasma membrane aminopeptidase activity|metalloexopeptidase activity|zinc ion binding breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1) 54 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.0031) L-Glutamic Acid(DB00142) CCATGGAGTTCGCCGGCTGGC 0.507000 44 39 0 0 0.004878 0 0 TYR 7299 broad.mit.edu 37 11 89028466 89028466 + Missense_Mutation SNP C T T TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr11:89028466C>T uc001pcs.3 + 4 1604 c.1522C>T c.(1522-1524)Cct>Tct p.P508S NM_000372 NP_000363 P14679 TYRO_HUMAN Homo sapiens tyrosinase (oculocutaneous albinism IA) (TYR), mRNA. 508 eye pigment biosynthetic process|melanin biosynthetic process from tyrosine|visual perception Golgi-associated vesicle|integral to membrane|lysosome|melanosome membrane|perinuclear region of cytoplasm copper ion binding|monophenol monooxygenase activity|protein heterodimerization activity|protein homodimerization activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 48 Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033) Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157) AAAGCAGCTTCCTGAAGAAAA 0.532000 26 15 0 0 0.002780 0 0 COL14A1 7373 broad.mit.edu 37 8 121383403 121383403 + Missense_Mutation SNP A T T TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr8:121383403A>T uc003yox.3 + 47 5589 c.5324A>T c.(5323-5325)gAt>gTt p.D1775V NM_021110 NP_066933 Q05707 COEA1_HUMAN Homo sapiens collagen, type XIV, alpha 1 (COL14A1), mRNA. 1775 Triple-helical region 2 (COL1). cell-cell adhesion|collagen fibril organization collagen type XIV|extracellular space collagen binding|extracellular matrix structural constituent|protein binding, bridging NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2) 119 Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161) OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503) CCCCATCCAGATCAGCCAGAG 0.522000 104 38 0 0 0.003610 0 0 HERC1 8925 broad.mit.edu 37 15 63935234 63935234 + Silent SNP A T T TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr15:63935234A>T uc002amp.3 - 58 11503 c.11355T>A c.(11353-11355)gtT>gtA p.V3785V NM_003922 NP_003913 Q15751 HERC1_HUMAN Homo sapiens hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1 (HERC1), mRNA. 3785 protein modification process|transport Golgi apparatus|cytosol|membrane ARF guanyl-nucleotide exchange factor activity|acid-amino acid ligase activity NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 132 agcctatcacaacagtttgca 0.343000 8 5 0 0 0.000602 0 0 CENPE 1062 broad.mit.edu 37 4 104066293 104066293 + Missense_Mutation SNP C T T TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr4:104066293C>T uc003hxb.1 - 31 4861 c.4771G>A c.(4771-4773)Gaa>Aaa p.E1591K CENPE_uc003hxc.1_Missense_Mutation_p.E1566K NM_001813 NP_001804 Q02224 CENPE_HUMAN Homo sapiens centromere protein E, 312kDa (CENPE), mRNA. 1591 blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle ATP binding|kinetochore binding|microtubule motor activity NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3) 101 OV - Ovarian serous cystadenocarcinoma(123;2.95e-08) TCCTCTTTTTCCTTAATCATA 0.363000 38 19 0 0 0.006122 0 0 KCNA1 3736 broad.mit.edu 37 12 5021216 5021216 + Silent SNP G A A TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr12:5021216G>A uc001qnh.3 + 1 1777 c.672G>A c.(670-672)gtG>gtA p.V224V KCNA1_uc021qts.1_Silent_p.V224V NM_000217 NP_000208 Q09470 KCNA1_HUMAN Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia) (KCNA1), mRNA. 224 synaptic transmission juxtaparanode region of axon|voltage-gated potassium channel complex delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity NS(1)|breast(3)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(23)|ovary(3)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 63 Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236) TCTTCATCGTGGAAACGCTGT 0.512000 33 19 0 0 0.006122 0 0 PC 5091 broad.mit.edu 37 11 66619376 66619376 + Missense_Mutation SNP G A A TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr11:66619376G>A uc001ojn.1 - 13 1916 c.1867C>T c.(1867-1869)Ccc>Tcc p.P623S PC_uc001ojo.1_Missense_Mutation_p.P623S|PC_uc001ojp.1_Missense_Mutation_p.P623S NM_022172 NP_071504 P11498 PYC_HUMAN Homo sapiens pyruvate carboxylase (PC), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA. 623 Carboxyltransferase. gluconeogenesis|lipid biosynthetic process mitochondrial matrix ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Melanoma(852;0.0525) Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227) Biotin(DB00121)|Pyruvic acid(DB00119) CGCCGCCAGGGGCACTCATAC 0.637000 21 24 0 0 0.003954 0 0 EPS15L1 58513 broad.mit.edu 37 19 16472729 16472729 + Missense_Mutation SNP G A A TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr19:16472729G>A uc002ndx.3 - 22 2453 c.2447C>T c.(2446-2448)cCa>cTa p.P816L EPS15L1_uc002ndy.3_Non-coding_Transcript|EPS15L1_uc010xpe.1_3'UTR|EPS15L1_uc002ndz.1_Missense_Mutation_p.P816L|EPS15L1_uc010xpf.1_Missense_Mutation_p.P719L|EPS15L1_uc002nea.1_3'UTR|EPS15L1_uc010eah.1_3'UTR NM_021235 NP_067058 Q9UBC2 EP15R_HUMAN Homo sapiens epidermal growth factor receptor pathway substrate 15-like 1 (EPS15L1), mRNA. 816 15 X 3 AA repeats of D-P-F.|Pro-rich. endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway coated pit|nucleus|plasma membrane calcium ion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(4)|skin(2) 30 AGCCCCGAGTGGCTGGAATGG 0.517000 31 21 0 0 0.002780 0 0 SELRC1 65260 broad.mit.edu 37 1 53153451 53153451 + Nonsense_Mutation SNP G A A rs149085843 TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr1:53153451G>A uc001cui.2 - 2 677 c.637C>T c.(637-639)Cga>Tga p.R213* NM_023077 NP_075565 Q96BR5 SELR1_HUMAN Homo sapiens Sel1 repeat containing 1 (SELRC1), mRNA. 213 binding breast(1)|lung(3)|prostate(1)|urinary_tract(1) 6 TGCTGGGCTCGATTTTTTAGC 0.532000 42 29 0 0 0.001786 0 0 OR52B4 143496 broad.mit.edu 37 11 4389346 4389346 + Silent SNP G A A TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr11:4389346G>A uc010qye.2 - 0 271 c.180C>T c.(178-180)ccC>ccT p.P60P NM_001005161 NP_001005161 Q8NGK2 O52B4_HUMAN Homo sapiens olfactory receptor, family 52, subfamily B, member 4 (OR52B4), mRNA. 60 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.E59K(1) NS(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(15)|skin(2) 31 Medulloblastoma(188;0.0075)|Breast(177;0.0249)|all_neural(188;0.0577) Epithelial(150;1.57e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0826)|LUSC - Lung squamous cell carcinoma(625;0.19) AGAGGTACATGGGTTCATGGA 0.517000 17 8 0 0 0.003080 0 0 C22orf23 84645 broad.mit.edu 37 22 38340481 38340481 + Missense_Mutation SNP C T T TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr22:38340481C>T uc003auj.2 - 5 734 c.525G>A c.(523-525)atG>atA p.M175I C22orf23_uc021wpl.1_Missense_Mutation_p.M154I NM_032561 NP_115950 Q9BZE7 EVG1_HUMAN Homo sapiens chromosome 22 open reading frame 23 (C22orf23), transcript variant 1, mRNA. 175 p.M175T(1) endometrium(3)|kidney(2)|large_intestine(7) 12 Melanoma(58;0.045) CCAGGGCCTCCATGTCAGCCA 0.572000 50 28 0 0 0.005443 0 0 TMEM119 338773 broad.mit.edu 37 12 108986066 108986066 + Missense_Mutation SNP C T T TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr12:108986066C>T uc001tng.3 - 1 257 c.94G>A c.(94-96)Gcc>Acc p.A32T TMEM119_uc021rdl.1_Missense_Mutation_p.A32T NM_181724 NP_859075 Q4V9L6 TM119_HUMAN Homo sapiens transmembrane protein 119 (TMEM119), mRNA. 32 integral to membrane large_intestine(2)|lung(3)|ovary(1)|skin(1) 7 AGGAACGTGGCCTTCAGGGGC 0.711000 9 5 0 0 0.003080 0 0 ME3 10873 broad.mit.edu 37 11 86159199 86159199 + Silent SNP G A A TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr11:86159199G>A uc001pbz.3 - 9 1484 c.1230C>T c.(1228-1230)gcC>gcT p.A410A ME3_uc001pca.3_Silent_p.A410A|ME3_uc009yvk.3_Silent_p.A410A NM_001014811 NP_001155058 Q16798 MAON_HUMAN Homo sapiens malic enzyme 3, NADP(+)-dependent, mitochondrial (ME3), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA. 410 aerobic respiration|malate metabolic process|oxygen metabolic process|pyruvate metabolic process mitochondrial matrix NAD binding|malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|metal ion binding endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(2)|skin(3)|stomach(2)|urinary_tract(1) 27 Acute lymphoblastic leukemia(157;4.34e-06)|all_hematologic(158;0.00252) NADH(DB00157) TACCTATGATGGCTGTGGGCT 0.557000 37 26 0 0 0.004656 0 0 NPSR1 387129 broad.mit.edu 37 7 34867127 34867127 + Missense_Mutation SNP G T T TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr7:34867127G>T uc003teh.1 + 4 721 c.593G>T c.(592-594)tGg>tTg p.W198L NPSR1-AS1_uc010kwq.2_Intron|NPSR1-AS1_uc011kaq.1_Intron|NPSR1_uc003teg.1_Missense_Mutation_p.W198L|NPSR1_uc010kwt.1_Missense_Mutation_p.W45L|NPSR1_uc010kwu.1_5'UTR|NPSR1_uc010kwv.1_Missense_Mutation_p.W132L|NPSR1_uc003tei.1_Missense_Mutation_p.W198L|NPSR1_uc010kww.1_Missense_Mutation_p.W187L|NPSR1_uc011kar.1_Missense_Mutation_p.W132L|NPSR1-AS1_uc010kwy.3_Intron|NPSR1-AS1_uc003tek.4_Intron NM_207173 NP_997056 Q6W5P4 NPSR1_HUMAN Homo sapiens neuropeptide S receptor 1 (NPSR1), transcript variant 2, mRNA. 198 cytoplasm|integral to membrane|plasma membrane vasopressin receptor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7) 31 Halothane(DB01159) GTGCAGTGCTGGGCCCTGTGG 0.537000 30 27 2.79863e-10 3.70382e-10 0.004656 1 0 DARC 2532 broad.mit.edu 37 1 159175964 159175964 + Silent SNP C T T TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr1:159175964C>T uc001ftp.4 + 0 916 c.741C>T c.(739-741)atC>atT p.I247I DARC_uc001fto.3_Silent_p.I245I NM_001122951 NP_001116423 Q16570 DUFFY_HUMAN Homo sapiens Duffy blood group, chemokine receptor (DARC), transcript variant 1, mRNA. 245 defense response integral to membrane|plasma membrane C-C chemokine binding|chemokine receptor activity large_intestine(2)|lung(1)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 8 all_hematologic(112;0.0429) GGATGAATATCCTGTGGGCCT 0.532000 77 33 0 0 0.002445 0 0 TAS2R7 50837 broad.mit.edu 37 12 10954483 10954483 + Silent SNP G A A TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr12:10954483G>A uc001qyv.3 - 0 744 c.687C>T c.(685-687)gcC>gcT p.A229A NM_023919 NP_076408 Q9NYW3 TA2R7_HUMAN Homo sapiens taste receptor, type 2, member 7 (TAS2R7), mRNA. 229 sensory perception of taste integral to membrane taste receptor activity kidney(1)|large_intestine(1)|lung(3)|skin(2)|stomach(3) 10 CTCTCACATGGGCTTCTGTGC 0.502000 7 6 0 0 0.001168 0 0 TREML2 79865 broad.mit.edu 37 6 41162267 41162267 + Silent SNP G A A TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr6:41162267G>A uc010jxm.1 - 2 860 c.681C>T c.(679-681)tcC>tcT p.S227S NM_024807 NP_079083 Q5T2D2 TRML2_HUMAN Homo sapiens triggering receptor expressed on myeloid cells-like 2 (TREML2), mRNA. 227 T cell activation cell surface|integral to membrane|plasma membrane protein binding|receptor activity breast(1)|central_nervous_system(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1) 18 Ovarian(28;0.0418)|Colorectal(47;0.196) TAGTGGAGATGGATTCTGGGC 0.622000 26 9 0 0 0.006214 0 0 PLCE1 51196 broad.mit.edu 37 10 95791308 95791308 + Nonsense_Mutation SNP C T T TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr10:95791308C>T uc001kjk.3 + 1 1139 c.505C>T c.(505-507)Cag>Tag p.Q169* PLCE1_uc010qnx.2_Nonsense_Mutation_p.Q169* NM_016341 NP_057425 Q9P212 PLCE1_HUMAN Homo sapiens phospholipase C, epsilon 1 (PLCE1), transcript variant 1, mRNA. 169 Ras protein signal transduction|activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of cell growth|regulation of smooth muscle contraction Golgi membrane|cytosol|membrane fraction|plasma membrane Ras GTPase binding|calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|receptor signaling protein activity liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1) 8 Colorectal(252;0.0458) TTTAGGAAATCAGTCAGTGAT 0.428000 31 27 0 0 0.006320 0 0 SUGP2 10147 broad.mit.edu 37 19 19115220 19115220 + Missense_Mutation SNP C T T TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr19:19115220C>T uc002nkz.1 - 6 2748 c.2728G>A c.(2728-2730)Gac>Aac p.D910N SUGP2_uc002nkx.2_Missense_Mutation_p.D896N|SUGP2_uc002nla.1_Missense_Mutation_p.D896N|SUGP2_uc002nlb.2_Missense_Mutation_p.D896N|SUGP2_uc010xqk.1_Missense_Mutation_p.D665N NM_014884 NP_055699 Q8IX01 SUGP2_HUMAN Homo sapiens SURP and G patch domain containing 2 (SUGP2), transcript variant 2, mRNA. 896 RNA splicing|mRNA processing nucleus RNA binding NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 43 tcgtcctcgtcctcctcctcA 0.692000 23 20 0 0 0.001216 0 0 PPP6R3 55291 broad.mit.edu 37 11 68331819 68331819 + Silent SNP T C C TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr11:68331819T>C uc001onv.3 + 8 1161 c.894T>C c.(892-894)gcT>gcC p.A298A PPP6R3_uc001onw.3_Silent_p.A298A|PPP6R3_uc001ony.4_Silent_p.A298A|PPP6R3_uc001onx.3_Silent_p.A298A|PPP6R3_uc009ysh.3_Silent_p.A298A|PPP6R3_uc001onu.3_Silent_p.A298A|PPP6R3_uc010rqc.2_Intron|PPP6R3_uc010rqd.2_Silent_p.A5A NM_001164160 NP_001157632 Q5H9R7 PP6R3_HUMAN Homo sapiens protein phosphatase 6, regulatory subunit 3 (PPP6R3), transcript variant 4, mRNA. 298 regulation of phosphoprotein phosphatase activity cytoplasm|nucleus protein phosphatase binding breast(2)|endometrium(6)|kidney(3)|large_intestine(10)|liver(2)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 GCCATTCAGCTTGTTCAGTAA 0.413000 66 59 0 0 0.003610 0 0 SLC39A2 29986 broad.mit.edu 37 14 21469563 21469563 + Missense_Mutation SNP G A A TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr14:21469563G>A uc001vyr.3 + 3 947 c.755G>A c.(754-756)gGa>gAa p.G252E SLC39A2_uc001vys.3_Missense_Mutation_p.G153E NM_014579 NP_055394 Q9NP94 S39A2_HUMAN Homo sapiens solute carrier family 39 (zinc transporter), member 2 (SLC39A2), transcript variant 1, mRNA. 252 cytoplasmic membrane-bounded vesicle|integral to plasma membrane zinc ion transmembrane transporter activity breast(2)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(2)|upper_aerodigestive_tract(1) 14 all_cancers(95;0.00267) OV - Ovarian serous cystadenocarcinoma(11;1.34e-10)|Epithelial(56;1.57e-08)|all cancers(55;7.45e-08) GBM - Glioblastoma multiforme(265;0.0187) GACTCTGAAGGAGGGCGGGGC 0.567000 80 36 0 0 0.006230 0 0 ADCY8 114 broad.mit.edu 37 8 131861869 131861869 + Silent SNP G A A TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr8:131861869G>A uc003ytd.4 - 9 2647 c.2391C>T c.(2389-2391)ttC>ttT p.F797F ADCY8_uc010mds.3_Intron NM_001115 NP_001106 P40145 ADCY8_HUMAN Homo sapiens adenylate cyclase 8 (brain) (ADCY8), mRNA. 797 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|membrane fraction|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2) 134 Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000538) TGGCACCCAGGAAATTAATCA 0.453000 HNSCC(32;0.087) 32 11 0 0 0.001855 0 0 MRPS25 64432 broad.mit.edu 37 3 15106679 15106679 + Missense_Mutation SNP G A A TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr3:15106679G>A uc003bzl.3 - 0 138 c.23C>T c.(22-24)cCc>cTc p.P8L MRPS25_uc011avl.2_Missense_Mutation_p.P8L|MRPS25_uc011avm.1_Missense_Mutation_p.P8L NM_022497 NP_071942 P82663 RT25_HUMAN Homo sapiens mitochondrial ribosomal protein S25 (MRPS25), nuclear gene encoding mitochondrial protein, mRNA. 8 translation mitochondrial small ribosomal subunit protein binding|structural constituent of ribosome large_intestine(1)|lung(1) 2 GCGGCGGATGGGGAAGCGGCC 0.652000 9 5 0 0 0.001168 0 0 IQSEC1 9922 broad.mit.edu 37 3 12953214 12953214 + Silent SNP G A A TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr3:12953214G>A uc003bxt.2 - 9 2382 c.2373C>T c.(2371-2373)ttC>ttT p.F791F IQSEC1_uc003bxu.3_Silent_p.F669F|IQSEC1_uc011auw.1_Silent_p.F777F NM_014869 NP_055684 Q6DN90 IQEC1_HUMAN Homo sapiens IQ motif and Sec7 domain 1 (IQSEC1), transcript variant 2, mRNA. 791 PH. regulation of ARF protein signal transduction cytoplasm|nucleus ARF guanyl-nucleotide exchange factor activity breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 TCTTCTTCTGGAAGATCTTGG 0.557000 31 25 0 0 0.002780 0 0 KY 339855 broad.mit.edu 37 3 134322982 134322982 + Silent SNP G A A TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr3:134322982G>A uc010hty.3 - 10 1487 c.1425C>T c.(1423-1425)acC>acT p.T475T KY_uc011blw.2_3'UTR|KY_uc011blx.2_Silent_p.T454T NM_178554 NP_848649 Q8NBH2 KY_HUMAN Homo sapiens kyphoscoliosis peptidase (KY), mRNA. 475 Z disc|cytoskeleton peptidase activity central_nervous_system(1)|endometrium(3)|kidney(1)|lung(12)|ovary(2)|upper_aerodigestive_tract(2) 21 GCCCGTCGCTGGTGTGGATGA 0.627000 8 7 0 0 0.001984 0 0 SDHAP2 727956 broad.mit.edu 37 3 195410689 195410689 + Missense_Mutation SNP C T T rs6583275 by1000genomes TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr3:195410689C>T uc003fuw.3 + 12 1780 c.586C>T c.(586-588)Cac>Tac p.H196Y SDHAP2_uc003fuv.3_Non-coding_Transcript Homo sapiens succinate dehydrogenase complex, subunit A, flavoprotein pseudogene 2 (SDHAP2), non-coding RNA. CTTTGAGGTGCACTGGAGGAA 0.567000 32 5 0 0 0.000602 0 0 MTA2 9219 broad.mit.edu 37 11 62367695 62367695 + Missense_Mutation SNP G A A TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr11:62367695G>A uc001ntq.2 - 2 523 c.133C>T c.(133-135)Ctt>Ttt p.L45F MTA2_uc010rlx.1_5'UTR NM_004739 NP_004730 O94776 MTA2_HUMAN Homo sapiens metastasis associated 1 family, member 2 (MTA2), mRNA. 45 BAH. chromatin assembly or disassembly NuRD complex protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4) 26 cgccggaaaagacagacaacc 0.448000 53 39 0 0 0.002522 0 0 CRTAC1 55118 broad.mit.edu 37 10 99696020 99696021 + Missense_Mutation DNP GG AA AA TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr10:99696020_99696021GG>AA uc001kou.2 - 2 683_684 c.327_328CC>TT c.(325-330)gaccgg>gaTTgg p.R110W CRTAC1_uc001kov.3_Missense_Mutation_p.R110W|CRTAC1_uc001kot.2_5'UTR NM_018058 NP_060528 Q9NQ79 CRAC1_HUMAN Homo sapiens cartilage acidic protein 1 (CRTAC1), transcript variant 1, mRNA. 110 proteinaceous extracellular matrix calcium ion binding autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(6)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1) 35 Colorectal(252;0.24) Epithelial(162;2.18e-10)|all cancers(201;3.27e-09) TTCCCCTGCCGGTCCCGCAGCG 0.619000 33 24 0 0 0.004672 0 0 F5 2153 broad.mit.edu 37 1 169511549 169511549 + Missense_Mutation SNP G A A TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr1:169511549G>A uc001ggg.1 - 12 2924 c.2779C>T c.(2779-2781)Cct>Tct p.P927S NM_000130 NP_000121 P12259 FA5_HUMAN Homo sapiens coagulation factor V (proaccelerin, labile factor) (F5), mRNA. 927 2 X 17 AA tandem repeats.|B. cell adhesion|platelet activation|platelet degranulation plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity p.P927S(2) NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1) 128 all_hematologic(923;0.208) Drotrecogin alfa(DB00055) TCACTAGGAGGGTCCTTCCAG 0.473000 63 29 0 0 0.001512 0 0 BCLAF1 9774 broad.mit.edu 37 6 136599532 136599532 + Missense_Mutation SNP C T T TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr6:136599532C>T uc003qgx.1 - 3 740 c.487G>A c.(487-489)Gaa>Aaa p.E163K BCLAF1_uc003qgy.1_Missense_Mutation_p.E161K|BCLAF1_uc011edc.1_Non-coding_Transcript|BCLAF1_uc011edd.1_Non-coding_Transcript|BCLAF1_uc011ede.1_Missense_Mutation_p.E161K|BCLAF1_uc003qgw.1_Missense_Mutation_p.E163K NM_014739 NP_055554 Q9NYF8 BCLF1_HUMAN Homo sapiens BCL2-associated transcription factor 1 (BCLAF1), transcript variant 1, mRNA. 163 induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|protein binding haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1) 9 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331) GTTTGTTTTTCCTGAGACCCT 0.433000 66 18 0 0 0.007413 0 0 KCNJ5 3762 broad.mit.edu 37 11 128781567 128781567 + Silent SNP C T T TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr11:128781567C>T uc001qet.3 + 1 713 c.399C>T c.(397-399)ctC>ctT p.L133L KCNJ5_uc009zck.3_Silent_p.L133L|KCNJ5_uc001qew.3_Silent_p.L133L NM_000890 NP_000881 P48544 IRK5_HUMAN Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 5 (KCNJ5), mRNA. 133 synaptic transmission voltage-gated potassium channel complex G-protein activated inward rectifier potassium channel activity|protein binding p.L133L(2)|p.L133I(1) NS(1)|breast(1)|endometrium(4)|large_intestine(4)|liver(2)|lung(9)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 26 all_hematologic(175;0.0641) Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.0059)|LUSC - Lung squamous cell carcinoma(976;0.021)|Lung(977;0.0215) Glibenclamide(DB01016) TTGAAAACCTCAGTGGCTTCG 0.507000 53 41 0 0 0.003214 0 0 FAM91A1 157769 broad.mit.edu 37 8 124790913 124790913 + Silent SNP G A A TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr8:124790913G>A uc003yqv.3 + 5 511 c.450G>A c.(448-450)agG>agA p.R150R FAM91A1_uc011lik.1_Silent_p.R150R|FAM91A1_uc011lil.2_5'UTR NM_144963 NP_659400 Q658Y4 F91A1_HUMAN Homo sapiens family with sequence similarity 91, member A1 (FAM91A1), mRNA. 150 breast(4)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 28 Lung NSC(37;8.76e-13)|Ovarian(258;0.00744)|all_neural(195;0.0741) STAD - Stomach adenocarcinoma(47;0.00192) TCTTCAGAAGGAAAACAGCCC 0.393000 32 10 0 0 0.000978 0 0 MIA3 375056 broad.mit.edu 37 1 222791496 222791496 + Missense_Mutation SNP G A A TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr1:222791496G>A uc001hnl.3 + 0 53 c.44G>A c.(43-45)cGg>cAg p.R15Q NM_198551 NP_940953 Q5JRA6 MIA3_HUMAN Homo sapiens melanoma inhibitory activity family, member 3 (MIA3), mRNA. 15 exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing endoplasmic reticulum membrane|integral to membrane protein binding breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1) 80 GBM - Glioblastoma multiforme(131;0.0199) CTCGTGCTCCGGCTGCCCTGG 0.721000 28 39 0 0 0.003610 0 0 DIP2C 22982 broad.mit.edu 37 10 735477 735477 + Silent SNP C T T TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr10:735477C>T uc001ifp.3 - 0 132 c.42G>A c.(40-42)gaG>gaA p.E14E NM_014974 NP_055789 Q9Y2E4 DIP2C_HUMAN Homo sapiens DIP2 disco-interacting protein 2 homolog C (Drosophila) (DIP2C), mRNA. 14 nucleus catalytic activity|transcription factor binding breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4) 81 all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235) OV - Ovarian serous cystadenocarcinoma(33;0.136) Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106) GCGCCCGCACCTCCAGGGGCA 0.791000 6 3 0 0 0.000602 0 0 C10orf90 118611 broad.mit.edu 37 10 128114580 128114580 + Missense_Mutation SNP G A A TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr10:128114580G>A uc010qum.2 - 8 2362 c.2332C>T c.(2332-2334)Cgt>Tgt p.R778C C10orf90_uc001ljp.3_Missense_Mutation_p.R537C|C10orf90_uc001ljq.3_Missense_Mutation_p.R681C NM_001004298 NP_001004298 Q96M02 CJ090_HUMAN Homo sapiens chromosome 10 open reading frame 90 (C10orf90), mRNA. 681 NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(19)|liver(1)|lung(29)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 65 all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203) COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479) ACTTCGGCACGGAGTCTGTTA 0.413000 68 39 0 0 0.006999 0 0 FAM129A 116496 broad.mit.edu 37 1 184764806 184764806 + Missense_Mutation SNP C T T TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr1:184764806C>T uc001gra.3 - 13 2286 c.2092G>A c.(2092-2094)Gaa>Aaa p.E698K FAM129A_uc001grb.1_Intron NM_052966 NP_443198 Q9BZQ8 NIBAN_HUMAN Homo sapiens family with sequence similarity 129, member A (FAM129A), transcript variant 2, mRNA. 698 Glu-rich. negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress cytoplasm|nucleus|plasma membrane autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2) 45 TCTGGCTCTTCCTGGGCGGGT 0.572000 30 20 0 0 0.007413 0 0 NCAPG2 54892 broad.mit.edu 37 7 158443603 158443604 + Missense_Mutation DNP GT AA AA TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr7:158443603_158443604GT>AA uc011kwe.1 - 23 3140_3141 c.2995_2996AC>TT c.(2995-2997)aca>TTa p.T999L NCAPG2_uc010lqu.1_Intron|NCAPG2_uc003wnx.1_Missense_Mutation_p.T999L|NCAPG2_uc003wnv.1_Missense_Mutation_p.T999L|NCAPG2_uc003wnw.1_Non-coding_Transcript|NCAPG2_uc011kwc.1_Intron|NCAPG2_uc011kwd.1_Missense_Mutation_p.T442L NM_017760 NP_060230 Q86XI2 CNDG2_HUMAN Homo sapiens non-SMC condensin II complex, subunit G2 (NCAPG2), mRNA. 999 cell division|chromosome condensation|mitosis nucleus methylated histone residue binding NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 39 Ovarian(565;0.152) all_cancers(7;3.44e-11)|all_epithelial(9;3.05e-05)|all_hematologic(28;0.014) OV - Ovarian serous cystadenocarcinoma(82;0.00174) UCEC - Uterine corpus endometrioid carcinoma (81;0.187)|STAD - Stomach adenocarcinoma(7;0.18) AGGGGTGTCTGTGTGCCGAGAC 0.460000 54 55 0 0 0.004672 0 0 WDR33 55339 broad.mit.edu 37 2 128471308 128471308 + Missense_Mutation SNP G A A TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr2:128471308G>A uc002tpg.2 - 17 3356 c.3157C>T c.(3157-3159)Ccg>Tcg p.P1053S NM_018383 NP_060853 Q9C0J8 WDR33_HUMAN Homo sapiens WD repeat domain 33 (WDR33), transcript variant 1, mRNA. 1053 postreplication repair|spermatogenesis collagen|nucleus protein binding p.P1053P(1) NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 39 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0695) GGGGGAAACGGAGGCCCAGGG 0.662000 70 52 0 0 0.003610 0 0 SLC36A1 206358 broad.mit.edu 37 5 150853259 150853259 + Missense_Mutation SNP C T T TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr5:150853259C>T uc003luc.3 + 7 966 c.749C>T c.(748-750)cCc>cTc p.P250L SLC36A1_uc003lub.1_Missense_Mutation_p.P250L|SLC36A1_uc010jhw.1_Missense_Mutation_p.P250L NM_078483 NP_510968 Q7Z2H8 S36A1_HUMAN Homo sapiens solute carrier family 36 (proton/amino acid symporter), member 1 (SLC36A1), mRNA. 250 cellular nitrogen compound metabolic process|ion transport endoplasmic reticulum|integral to membrane|lysosomal membrane|plasma membrane amino acid transmembrane transporter activity|symporter activity endometrium(5)|kidney(9)|lung(8)|skin(2)|urinary_tract(1) 25 Medulloblastoma(196;0.091)|all_hematologic(541;0.103)|all_neural(839;0.138) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) Glycine(DB00145)|L-Alanine(DB00160) AGCCACCTCCCCTTGGTGGCC 0.453000 165 84 0 0 0.003610 0 0 KIAA0913 23053 broad.mit.edu 37 10 75553738 75553738 + Missense_Mutation SNP C T T TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr10:75553738C>T uc001jvj.3 + 11 2816 c.2561C>T c.(2560-2562)gCc>gTc p.A854V KIAA0913_uc001jve.3_Missense_Mutation_p.A854V|KIAA0913_uc009xrl.3_Missense_Mutation_p.A854V|KIAA0913_uc001jvf.3_Missense_Mutation_p.A854V|KIAA0913_uc001jvh.3_Non-coding_Transcript|KIAA0913_uc001jvi.3_Missense_Mutation_p.A277V|KIAA0913_uc010qkr.2_Missense_Mutation_p.A277V NM_001242488 NP_001229417 A7E2V4 K0913_HUMAN Homo sapiens KIAA0913 (KIAA0913), transcript variant 3, mRNA. 854 zinc ion binding breast(3)|cervix(1)|endometrium(6)|kidney(3)|lung(6) 19 Prostate(51;0.0112) CACAACCTGGCCTTCCGAGTT 0.572000 16 10 0 0 0.000673 0 0 KCNJ10 3766 broad.mit.edu 37 1 160011519 160011519 + Silent SNP G A A TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr1:160011519G>A uc001fuw.2 - 1 1044 c.804C>T c.(802-804)ctC>ctT p.L268L NM_002241 NP_002232 P78508 IRK10_HUMAN Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 10 (KCNJ10), mRNA. 268 integral to plasma membrane ATP binding|ATP-activated inward rectifier potassium channel activity breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(1) 17 all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) TGCGAAGAGGGAGATCTTTCA 0.527000 55 31 0 0 0.001786 0 0 MACF1 23499 broad.mit.edu 37 1 39785394 39785394 + Missense_Mutation SNP C T T TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr1:39785394C>T uc021olt.1 + 29 4071 c.4019C>T c.(4018-4020)tCc>tTc p.S1340F MACF1_uc021ols.1_Missense_Mutation_p.S1340F|MACF1_uc001cdc.2_Missense_Mutation_p.S1340F|MACF1_uc001cda.1_Missense_Mutation_p.S1248F|MACF1_uc009vvq.1_Missense_Mutation_p.S397F|MACF1_uc001cdb.1_Missense_Mutation_p.S427F NM_012090 NP_036222 Q9UPN3 MACF1_HUMAN Homo sapiens microtubule-actin crosslinking factor 1 (MACF1), transcript variant 1, mRNA. 1340 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) CAAAAATTTTCCCAGCAGTAC 0.373000 16 9 0 0 0.006214 0 0 MUC5B 727897 broad.mit.edu 37 11 1268818 1268818 + Missense_Mutation SNP G A A TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr11:1268818G>A uc001lta.3 + 30 10767 c.10708G>A c.(10708-10710)Ggc>Agc p.G3570S NM_002458 NP_002449 Q9HC84 MUC5B_HUMAN Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA. 3570 7 X Cys-rich subdomain repeats.|Thr-rich. Missing (in Ref. 6; AAB61398). cell adhesion extracellular region extracellular matrix structural constituent|protein binding cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1) 137 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) GGTGACCACGGGCTGTGAGCC 0.662000 29 29 0 0 0.005524 0 0 GDF5 8200 broad.mit.edu 37 20 34022117 34022117 + Missense_Mutation SNP C T T TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr20:34022117C>T uc010gfc.1 - 1 1337 c.1096G>A c.(1096-1098)Gat>Aat p.D366N GDF5OS_uc002xcj.3_Silent_p.I176I|GDF5_uc002xck.1_Missense_Mutation_p.D366N NM_000557 NP_000548 P43026 GDF5_HUMAN Homo sapiens growth differentiation factor 5 (GDF5), mRNA. 366 cartilage development|cell-cell signaling|growth|transforming growth factor beta receptor signaling pathway extracellular space cytokine activity|growth factor activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(9)|skin(3) 26 Lung NSC(9;0.00642)|all_lung(11;0.0094) BRCA - Breast invasive adenocarcinoma(18;0.00663) ACGGTCTTATCGTCCTGGCCA 0.607000 100 70 0 0 0.003610 0 0 ST6GAL2 84620 broad.mit.edu 37 2 107423361 107423361 + Missense_Mutation SNP C T T TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr2:107423361C>T uc002tdq.3 - 5 1482 c.1363G>A c.(1363-1365)Gaa>Aaa p.E455K ST6GAL2_uc002tdr.3_Missense_Mutation_p.E455K NM_001142351 NP_115917 Q96JF0 SIAT2_HUMAN Homo sapiens ST6 beta-galactosamide alpha-2,6-sialyltranferase 2 (ST6GAL2), transcript variant 2, mRNA. 455 growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation Golgi cisterna membrane|integral to Golgi membrane beta-galactoside alpha-2,6-sialyltransferase activity p.E455K(4) autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 65 GGGATATATTCATACACGTGC 0.502000 28 15 0 0 0.003163 0 0 NPHS1 4868 broad.mit.edu 37 19 36333451 36333451 + Splice_Site SNP C T T TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr19:36333451C>T uc002oby.3 - 18 2491 c.2335_splice c.e18-1 p.G779_splice NM_004646 NP_004637 O60500 NPHN_HUMAN Homo sapiens nephrosis 1, congenital, Finnish type (nephrin) (NPHS1), mRNA. 779 Ig-like C2-type 7. cell adhesion|excretion|muscle organ development integral to plasma membrane NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 74 all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) CTCATCTTCTCCCTGGAGGCC 0.577000 43 27 0 0 0.006320 0 0 DMP1 1758 broad.mit.edu 37 4 88584097 88584097 + Silent SNP G A A TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr4:88584097G>A uc003hqv.3 + 5 1271 c.1167G>A c.(1165-1167)tcG>tcA p.S389S DMP1_uc003hqw.3_Silent_p.S373S NM_004407 NP_004398 Q13316 DMP1_HUMAN Homo sapiens dentin matrix acidic phosphoprotein 1 (DMP1), transcript variant 1, mRNA. 389 biomineral tissue development|ossification cytoplasm|nucleus|proteinaceous extracellular matrix calcium ion binding|integrin binding breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(1)|stomach(1) 32 Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.227) OV - Ovarian serous cystadenocarcinoma(123;0.000516) AGGACAGCTCGCACACACTCT 0.547000 90 58 0 0 0.003610 0 0 SLMAP 7871 broad.mit.edu 37 3 57898318 57898318 + Missense_Mutation SNP G A A TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr3:57898318G>A uc003dje.1 + 17 2064 c.1859G>A c.(1858-1860)cGg>cAg p.R620Q SLMAP_uc003djd.1_Missense_Mutation_p.R603Q|SLMAP_uc003djf.1_Missense_Mutation_p.R582Q|SLMAP_uc003djg.1_Missense_Mutation_p.R214Q|SLMAP_uc011bez.1_Missense_Mutation_p.R88Q|SLMAP_uc011bfa.1_Missense_Mutation_p.R154Q|SLMAP_uc003djh.3_Missense_Mutation_p.R113Q|SLMAP_uc003dji.1_Missense_Mutation_p.R154Q|SLMAP_uc011bfb.1_Missense_Mutation_p.R154Q|SLMAP_uc011bfc.1_Missense_Mutation_p.R113Q NM_007159 NP_009090 Q14BN4 SLMAP_HUMAN Homo sapiens sarcolemma associated protein (SLMAP), mRNA. 620 muscle contraction|protein folding integral to plasma membrane|microtubule organizing center|prefoldin complex|sarcolemma|smooth endoplasmic reticulum unfolded protein binding endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(2) 18 BRCA - Breast invasive adenocarcinoma(55;0.000271)|KIRC - Kidney renal clear cell carcinoma(284;0.0602)|Kidney(284;0.0754)|OV - Ovarian serous cystadenocarcinoma(275;0.182) GAGCGGTGGCGGAAAGCAGCG 0.468000 38 28 0 0 0.006320 0 0 MLIP 90523 broad.mit.edu 37 6 54025189 54025189 + Missense_Mutation SNP G A A TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr6:54025189G>A uc011dxa.2 + 5 2347 c.2314G>A c.(2314-2316)Gaa>Aaa p.E772K MLIP_uc003pcf.2_Missense_Mutation_p.E761K|MLIP_uc003pcg.4_Missense_Mutation_p.E237K|MLIP_uc003pch.4_Intron NM_138569 NP_612636 Q5VWP3 MLIP_HUMAN Homo sapiens muscular LMNA-interacting protein (MLIP), mRNA. 237 PML body|nuclear envelope protein binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(16)|ovary(8)|skin(4)|stomach(1)|urinary_tract(1) 34 AGCCAAGACTGAAAGTGTCTC 0.393000 5 3 0 0 0.004672 0 0 ODZ3 55714 broad.mit.edu 37 4 183714222 183714222 + Missense_Mutation SNP G A A TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr4:183714222G>A uc003ivd.1 + 24 6472 c.6397G>A c.(6397-6399)Gat>Aat p.D2133N NM_001080477 NP_001073946 Q9P273 TEN3_HUMAN Homo sapiens odz, odd Oz/ten-m homolog 3 (Drosophila) (ODZ3), mRNA. 2133 signal transduction integral to membrane NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(35)|lung(56)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(4) 129 all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184) all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487) TTATGAATATGATGTTGATGG 0.398000 54 21 0 0 0.002299 0 0 GNA15 2769 broad.mit.edu 37 19 3150270 3150270 + Missense_Mutation SNP G A A TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr19:3150270G>A uc002lxf.2 + 2 730 c.472G>A c.(472-474)Gat>Aat p.D158N GNA15_uc010xhf.1_Missense_Mutation_p.D158N NM_002068 NP_002059 P30679 GNA15_HUMAN Homo sapiens guanine nucleotide binding protein (G protein), alpha 15 (Gq class) (GNA15), mRNA. 158 G-protein signaling, coupled to cAMP nucleotide second messenger|activation of phospholipase C activity by dopamine receptor signaling pathway|activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|elevation of cytosolic calcium ion concentration|platelet activation|protein ADP-ribosylation heterotrimeric G-protein complex G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity large_intestine(5)|lung(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;7.04e-05)|OV - Ovarian serous cystadenocarcinoma(105;5.08e-113)|Epithelial(107;6.19e-111)|all cancers(105;6.19e-103)|BRCA - Breast invasive adenocarcinoma(158;0.00145)|STAD - Stomach adenocarcinoma(1328;0.184) CCACCTGCTCGATTCAGCCGT 0.657000 70 37 0 0 0.005524 0 0 PROM2 150696 broad.mit.edu 37 2 95940436 95940436 + Missense_Mutation SNP C T T TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr2:95940436C>T uc002suk.3 + 0 236 c.103C>T c.(103-105)Ccg>Tcg p.P35S PROM2_uc002suh.2_Missense_Mutation_p.P35S|PROM2_uc002sui.3_Missense_Mutation_p.P35S|PROM2_uc002suj.3_5'UTR|PROM2_uc002sul.3_5'UTR NM_001165977 NP_653308 Q8N271 PROM2_HUMAN Homo sapiens prominin 2 (PROM2), transcript variant 2, mRNA. 35 apical plasma membrane|basolateral plasma membrane|cilium membrane|integral to membrane|microvillus membrane breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1) 32 GTTCCTTGGCCCGGCAGAGCA 0.687000 51 34 0 0 0.002836 0 0 USH2A 7399 broad.mit.edu 37 1 215844496 215844496 + Missense_Mutation SNP G A A TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr1:215844496G>A uc001hku.1 - 63 14338 c.13951C>T c.(13951-13953)Cca>Tca p.P4651S NM_206933 NP_996816 O75445 USH2A_HUMAN Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA. 4651 Fibronectin type-III 32. 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) GAAACAGTTGGCTGGAATCCT 0.453000 HNSCC(13;0.011) 62 25 0 0 0.005443 0 0 PIK3C2B 5287 broad.mit.edu 37 1 204418340 204418340 + Silent SNP G A A TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr1:204418340G>A uc001haw.3 - 14 2798 c.2319C>T c.(2317-2319)ttC>ttT p.F773F PIK3C2B_uc010pqv.2_Silent_p.F773F NM_002646 NP_002637 O00750 P3C2B_HUMAN Homo sapiens phosphoinositide-3-kinase, class 2, beta polypeptide (PIK3C2B), mRNA. 773 cell communication|phosphatidylinositol-mediated signaling endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 52 all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227) GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193) CTGGCTGGTGGAAATTAGGTG 0.547000 17 8 0 0 0.004482 0 0 KCNK1 3775 broad.mit.edu 37 1 233802581 233802581 + Missense_Mutation SNP C T T TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr1:233802581C>T uc010pxo.1 + 1 764 c.596C>T c.(595-597)cCg>cTg p.P199L NM_002245 NP_002236 O00180 KCNK1_HUMAN Homo sapiens potassium channel, subfamily K, member 1 (KCNK1), mRNA. 199 voltage-gated potassium channel complex inward rectifier potassium channel activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1) 11 all_cancers(173;0.00217)|all_epithelial(177;0.121)|Prostate(94;0.122)|Acute lymphoblastic leukemia(190;0.175) Ibutilide(DB00308)|Quinidine(DB00908) TTCTTCATCCCGGCCGCTGTC 0.527000 41 39 0 0 0.003610 0 0 LIM2 3982 broad.mit.edu 37 19 51890426 51890426 + Missense_Mutation SNP C T T TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr19:51890426C>T uc002pwl.2 - 1 316 c.272G>A c.(271-273)cGg>cAg p.R91Q LIM2_uc002pwm.2_Intron NM_030657 NP_085915 P55344 LMIP_HUMAN Homo sapiens lens intrinsic membrane protein 2, 19kDa (LIM2), transcript variant 1, mRNA. 58 cell-cell junction assembly cell junction|integral to membrane structural constituent of eye lens endometrium(1)|large_intestine(3)|lung(2)|skin(1) 7 all_neural(266;0.0529) GBM - Glioblastoma multiforme(134;0.000214)|OV - Ovarian serous cystadenocarcinoma(262;0.00985) ctctttgagccgcagagttct 0.622000 20 16 0 0 0.004007 0 0 UCP3 7352 broad.mit.edu 37 11 73716889 73716889 + Nonsense_Mutation SNP G A A rs104894319 byFrequency TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr11:73716889G>A uc001our.3 - 3 782 c.427C>T c.(427-429)Cga>Tga p.R143* UCP3_uc001ous.2_Nonsense_Mutation_p.R143* NM_003356 NP_003347 P55916 UCP3_HUMAN Homo sapiens uncoupling protein 3 (mitochondrial, proton carrier) (UCP3), nuclear gene encoding mitochondrial protein, transcript variant long, mRNA. 143 mitochondrial transport|respiratory electron transport chain|respiratory gaseous exchange integral to membrane|mitochondrial inner membrane binding central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 12 Breast(11;2.08e-05) GCCTGAAATCGGACCTTCACC 0.612000 24 19 0 0 0.006122 0 0 ZNF217 7764 broad.mit.edu 37 20 52192399 52192399 + Silent SNP G A A TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr20:52192399G>A uc002xwq.4 - 2 3246 c.2904C>T c.(2902-2904)ccC>ccT p.P968P ZNF217_uc010gij.1_Silent_p.P960P NM_006526 NP_006517 O75362 ZN217_HUMAN Homo sapiens zinc finger protein 217 (ZNF217), mRNA. 968 negative regulation of transcription, DNA-dependent histone deacetylase complex protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 50 all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398) BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198) ACCTTGGTTTGGGAGGCAGCG 0.537000 46 22 0 0 0.001882 0 0 CACNA1C 775 broad.mit.edu 37 12 2719802 2719802 + Silent SNP C T T TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr12:2719802C>T uc009zdu.1 + 28 4027 c.3714C>T c.(3712-3714)tcC>tcT p.S1238S CACNA1C_uc001qkc.2_Silent_p.S1218S|CACNA1C_uc001qjz.2_Silent_p.S1218S|CACNA1C_uc001qkd.2_Silent_p.S1218S|CACNA1C_uc001qke.2_Silent_p.S1218S|CACNA1C_uc001qkf.2_Silent_p.S1218S|CACNA1C_uc009zdw.1_Silent_p.S1218S|CACNA1C_uc001qkg.2_Silent_p.S1218S|CACNA1C_uc001qkh.2_Silent_p.S1218S|CACNA1C_uc001qkl.2_Silent_p.S1238S|CACNA1C_uc001qkj.2_Silent_p.S1218S|CACNA1C_uc001qkk.2_Silent_p.S1218S|CACNA1C_uc001qkn.2_Silent_p.S1218S|CACNA1C_uc001qkm.2_Silent_p.S1218S|CACNA1C_uc001qko.2_Silent_p.S1238S|CACNA1C_uc001qkp.2_Silent_p.S1218S|CACNA1C_uc001qkq.2_Silent_p.S1218S|CACNA1C_uc001qku.2_Silent_p.S1218S|CACNA1C_uc001qkr.2_Silent_p.S1218S|CACNA1C_uc001qks.2_Silent_p.S1218S|CACNA1C_uc001qkt.2_Silent_p.S1218S|CACNA1C_uc009zdv.1_Silent_p.S1215S|CACNA1C_uc001qkb.2_Silent_p.S1218S|CACNA1C_uc001qka.1_Silent_p.S753S|CACNA1C_uc001qki.1_Silent_p.S954S NM_199460 NP_955630 Q13936 CAC1C_HUMAN Homo sapiens calcium channel, voltage-dependent, L type, alpha 1C subunit (CACNA1C), transcript variant 1, mRNA. 1238 axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion cytoplasm|postsynaptic density|voltage-gated calcium channel complex calmodulin binding|voltage-gated calcium channel activity NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4) 132 OV - Ovarian serous cystadenocarcinoma(31;0.00256) LUAD - Lung adenocarcinoma(1;0.134) Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661) TGGTCAACTCCACCTACTTCG 0.592000 30 22 0 0 0.001882 0 0 CACNA2D4 93589 broad.mit.edu 37 12 1967792 1967792 + Silent SNP G A A TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr12:1967792G>A uc021qsx.1 - 19 2190 c.1959C>T c.(1957-1959)tcC>tcT p.S653S CACNA2D4_uc009zds.2_Non-coding_Transcript|CACNA2D4_uc009zdt.1_Silent_p.S517S NM_172364 NP_758952 Q7Z3S7 CA2D4_HUMAN Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 4 (CACNA2D4), mRNA. 653 integral to membrane calcium channel activity|metal ion binding|voltage-gated ion channel activity endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 39 Ovarian(42;0.107) Myeloproliferative disorder(1001;0.206) OV - Ovarian serous cystadenocarcinoma(31;0.00113) Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451) CGTGGCCCCGGGACAGCACCA 0.587000 16 22 0 0 0.003954 0 0 ATP9A 10079 broad.mit.edu 37 20 50310600 50310600 + Missense_Mutation SNP C T T TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr20:50310600C>T uc002xwg.1 - 6 589 c.589G>A c.(589-591)Gac>Aac p.D197N ATP9A_uc010gih.1_Intron|ATP9A_uc002xwf.1_5'UTR NM_006045 NP_006036 O75110 ATP9A_HUMAN Homo sapiens ATPase, class II, type 9A (ATP9A), mRNA. 197 ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity p.T196T(1) breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 AGCTTCCAGTCCGTCTCCCCA 0.637000 43 33 0 0 0.004289 0 0 OR5R1 219479 broad.mit.edu 37 11 56184738 56184738 + Missense_Mutation SNP T A A TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr11:56184738T>A uc010rji.2 - 0 971 c.971A>T c.(970-972)tAt>tTt p.Y324F OR8U8_uc001nit.2_Intron NM_001004744 NP_001004744 Q8NH85 OR5R1_HUMAN Homo sapiens olfactory receptor, family 5, subfamily R, member 1 (OR5R1), mRNA. 324 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(17)|ovary(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1) 37 Esophageal squamous(21;0.00448) GCTTGTTTAATAAAGTTTTCT 0.294000 5 4 0 0 0.000248 0 0 EVC 2121 broad.mit.edu 37 4 5798917 5798917 + Silent SNP C T T TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr4:5798917C>T uc003gil.1 + 13 2239 c.2055C>T c.(2053-2055)tcC>tcT p.S685S EVC_uc003gim.1_Non-coding_Transcript NM_153717 NP_714928 P57679 EVC_HUMAN Homo sapiens Ellis van Creveld syndrome (EVC), mRNA. 685 muscle organ development integral to membrane NS(1)|breast(1)|endometrium(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|stomach(1) 28 Myeloproliferative disorder(84;0.117) AGGGGTCCTCCCAGTGCCTGG 0.677000 16 8 0 0 0.004482 0 0 IL1B 3553 broad.mit.edu 37 2 113591100 113591100 + Missense_Mutation SNP C T T TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr2:113591100C>T uc002tii.1 - 3 239 c.152G>A c.(151-153)cGa>cAa p.R51Q IL1B_uc002tih.1_Missense_Mutation_p.R20Q NM_000576 NP_000567 P01584 IL1B_HUMAN Homo sapiens interleukin 1, beta (IL1B), mRNA. 51 activation of MAPK activity|anti-apoptosis|apoptosis|cell-cell signaling|cellular response to drug|cellular response to mechanical stimulus|cytokine-mediated signaling pathway|embryo implantation|fever generation|negative regulation of MAP kinase activity|negative regulation of adiponectin secretion|negative regulation of cell proliferation|negative regulation of glucose transport|negative regulation of insulin receptor signaling pathway|negative regulation of lipid catabolic process|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell proliferation|positive regulation of angiogenesis|positive regulation of calcidiol 1-monooxygenase activity|positive regulation of cell adhesion molecule production|positive regulation of cell division|positive regulation of fever generation|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of heterotypic cell-cell adhesion|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of interferon-gamma production|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of lipid catabolic process|positive regulation of membrane protein ectodomain proteolysis|positive regulation of mitosis|positive regulation of monocyte chemotactic protein-1 production|positive regulation of myosin light chain kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of prostaglandin secretion|positive regulation of protein export from nucleus|positive regulation vascular endothelial growth factor production|regulation of insulin secretion|sequestering of triglyceride|smooth muscle adaptation cytosol|extracellular space cytokine activity|growth factor activity|interleukin-1 receptor binding|protein domain specific binding p.R51Q(2) breast(2)|central_nervous_system(1)|large_intestine(1)|lung(8) 12 Anakinra(DB00026)|Minocycline(DB01017)|Procaterol(DB01366) GTCGGAGATTCGTAGCTGGAT 0.627000 70 44 0 0 0.003214 0 0 CCBE1 147372 broad.mit.edu 37 18 57115233 57115233 + Missense_Mutation SNP C A A TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr18:57115233C>A uc002lib.3 - 6 827 c.757G>T c.(757-759)Ggg>Tgg p.G253W CCBE1_uc010dpq.3_Silent_p.L28L|CCBE1_uc002lia.3_Missense_Mutation_p.G106W NM_133459 NP_597716 Q6UXH8 CCBE1_HUMAN Homo sapiens collagen and calcium binding EGF domains 1 (CCBE1), mRNA. 253 Collagen-like 1. lymphangiogenesis|sprouting angiogenesis|venous blood vessel morphogenesis collagen calcium ion binding NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(3) 24 Colorectal(73;0.175) CCCTGGCCCCCAGGCAGGCCA 0.587000 64 47 8.72198e-27 1.16522e-26 0.003610 1 0 GPR83 10888 broad.mit.edu 37 11 94113452 94113452 + Missense_Mutation SNP G A A TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr11:94113452G>A uc001pet.2 - 3 1307 c.1135C>T c.(1135-1137)Cct>Tct p.P379S NM_016540 NP_057624 Q9NYM4 GPR83_HUMAN Homo sapiens G protein-coupled receptor 83 (GPR83), mRNA. 379 integral to membrane|plasma membrane neuropeptide Y receptor activity NS(1)|breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(1) 19 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123) CTGAAGGAAGGAACTGGGGAG 0.562000 71 35 0 0 0.005524 0 0 RAPGEF6 51735 broad.mit.edu 37 5 130797421 130797421 + Silent SNP G A A TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr5:130797421G>A uc003kvn.2 - 18 3047 c.2841C>T c.(2839-2841)ttC>ttT p.F947F RAPGEF6_uc003kvp.2_Silent_p.F997F|RAPGEF6_uc003kvo.2_Silent_p.F952F|RAPGEF6_uc010jdi.2_Silent_p.F947F|RAPGEF6_uc010jdj.2_Silent_p.F947F|RAPGEF6_uc003kvq.3_Silent_p.F664F|RAPGEF6_uc011cxe.2_Non-coding_Transcript|RAPGEF6_uc003kvr.3_Silent_p.F947F NM_016340 NP_057424 Q8TEU7 RPGF6_HUMAN Homo sapiens Rap guanine nucleotide exchange factor (GEF) 6 (RAPGEF6), transcript variant 2, mRNA. 947 Ras-GEF. Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction cytoplasm|plasma membrane GTP-dependent protein binding|Ras GTPase binding|guanyl-nucleotide exchange factor activity breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1) 31 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) Lung(113;0.0721) ACATGGAATTGAAGTTCTTAC 0.313000 18 9 0 0 0.000673 0 0 HPD 3242 broad.mit.edu 37 12 122295239 122295239 + Missense_Mutation SNP C T T TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr12:122295239C>T uc001ubj.3 - 3 233 c.193G>A c.(193-195)Ggg>Agg p.G65R HPD_uc001ubk.3_Missense_Mutation_p.G26R NM_002150 NP_001165464 P32754 HPPD_HUMAN Homo sapiens 4-hydroxyphenylpyruvate dioxygenase (HPD), transcript variant 1, mRNA. 65 L-phenylalanine catabolic process|tyrosine catabolic process cytosol 4-hydroxyphenylpyruvate dioxygenase activity|metal ion binding breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(8)|urinary_tract(1) 18 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) OV - Ovarian serous cystadenocarcinoma(86;0.000105)|Epithelial(86;0.000352)|BRCA - Breast invasive adenocarcinoma(302;0.225) Nitisinone(DB00348) CTCACCTTCCCTTGTTTGATT 0.542000 69 34 0 0 0.004289 0 0 ADAR 103 broad.mit.edu 37 1 154574656 154574656 + Silent SNP C T T TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr1:154574656C>T uc001ffh.3 - 1 704 c.462G>A c.(460-462)aaG>aaA p.K154K ADAR_uc021pag.1_5'UTR|ADAR_uc001ffj.3_Silent_p.K154K|ADAR_uc001ffi.3_Silent_p.K154K|ADAR_uc001ffk.3_5'UTR|ADAR_uc001ffl.1_5'UTR NM_001111 NP_001180424 P55265 DSRAD_HUMAN Homo sapiens adenosine deaminase, RNA-specific (ADAR), transcript variant 1, mRNA. 154 adenosine to inosine editing|gene silencing by RNA|mRNA modification|mRNA processing|type I interferon-mediated signaling pathway cytoplasm|nucleolus|nucleoplasm DNA binding|double-stranded RNA adenosine deaminase activity|metal ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2) 51 all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997) LUSC - Lung squamous cell carcinoma(543;0.185) Colorectal(1306;0.115) CTGTGGTGGCCTTCCCTTCCC 0.463000 56 45 0 0 0.002852 0 0 C4BPB 725 broad.mit.edu 37 1 207265145 207265145 + Missense_Mutation SNP C A A TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr1:207265145C>A uc009xcd.3 + 2 679 c.359C>A c.(358-360)cCc>cAc p.P120H C4BPB_uc001hfi.3_Missense_Mutation_p.P129H|C4BPB_uc001hfj.3_Missense_Mutation_p.P130H|C4BPB_uc001hfl.3_Missense_Mutation_p.P130H|C4BPB_uc001hfk.3_Missense_Mutation_p.P129H|C4BPB_uc001hfm.3_Missense_Mutation_p.P130H|C4BPB_uc010pse.1_Missense_Mutation_p.P120H NM_001017366 NP_001017366 P20851 C4BPB_HUMAN Homo sapiens complement component 4 binding protein, beta (C4BPB), transcript variant 4, mRNA. 130 Sushi 2. blood coagulation|complement activation, classical pathway|innate immune response extracellular region breast(2)|lung(1)|ovary(1) 4 TGGGCACCTCCCTTTCCCATC 0.453000 26 18 1.33834e-09 1.76569e-09 0.007413 1 0 TAGAP 117289 broad.mit.edu 37 6 159457989 159457989 + Missense_Mutation SNP C T T TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr6:159457989C>T uc003qrz.3 - 9 1398 c.1066G>A c.(1066-1068)Gag>Aag p.E356K TAGAP_uc011eft.2_Missense_Mutation_p.E293K|TAGAP_uc003qsa.3_Missense_Mutation_p.E178K NM_054114 NP_687034 Q8N103 TAGAP_HUMAN Homo sapiens T-cell activation RhoGTPase activating protein (TAGAP), transcript variant 2, mRNA. 356 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|guanyl-nucleotide exchange factor activity NS(1)|autonomic_ganglia(1)|endometrium(3)|large_intestine(8)|lung(7)|ovary(2)|skin(1) 23 Breast(66;0.000776)|Ovarian(120;0.0303) OV - Ovarian serous cystadenocarcinoma(65;2.16e-16)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06) ACAATGGGCTCTGGGCTGACC 0.647000 48 25 0 0 0.004656 0 0 EFEMP1 2202 broad.mit.edu 37 2 56149558 56149558 + Silent SNP G A A TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr2:56149558G>A uc002rzi.3 - 2 519 c.18C>T c.(16-18)ttC>ttT p.F6F EFEMP1_uc002rzj.3_Silent_p.F6F|EFEMP1_uc010ypc.2_5'UTR NM_001039348 NP_001034438 Q12805 FBLN3_HUMAN Homo sapiens EGF containing fibulin-like extracellular matrix protein 1 (EFEMP1), transcript variant 2, mRNA. 6 negative regulation of chondrocyte differentiation|peptidyl-tyrosine phosphorylation|regulation of transcription, DNA-dependent|visual perception extracellular space|proteinaceous extracellular matrix calcium ion binding|epidermal growth factor receptor activity|epidermal growth factor receptor binding|growth factor activity p.L5I(1) NS(1)|breast(2)|endometrium(4)|large_intestine(6)|lung(5)|ovary(5)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 28 LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132) GCATAGTTAGGAAAAGGGCTT 0.428000 58 43 0 0 0.002522 0 0 H2AFY 9555 broad.mit.edu 37 5 134705283 134705284 + Missense_Mutation DNP CC TT TT TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr5:134705283_134705284CC>TT uc003lam.1 - 3 499_500 c.289_290GG>AA c.(289-291)gga>AAa p.G97K H2AFY_uc003lao.1_Missense_Mutation_p.G97K|H2AFY_uc003lan.1_Missense_Mutation_p.G97K|H2AFY_uc011cxz.1_Intron|H2AFY_uc003las.1_Missense_Mutation_p.G97K|H2AFY_uc003lat.1_Missense_Mutation_p.G97K NM_138610 NP_613258 O75367 H2AY_HUMAN Homo sapiens H2A histone family, member Y (H2AFY), transcript variant 3, mRNA. 97 Histone H2A. chromatin modification|dosage compensation|nucleosome assembly Barr body|nucleosome DNA binding p.G97fs*4(1) endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1) 11 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) TATGGTGACTCCTTTTAGCAGC 0.515000 46 33 0 0 0.004672 0 0 SBNO1 55206 broad.mit.edu 37 12 123821031 123821032 + Missense_Mutation DNP GG AA AA TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr12:123821031_123821032GG>AA uc010tap.2 - 4 658_659 c.658_659CC>TT c.(658-660)cct>TTt p.P220F SBNO1_uc010tao.2_Missense_Mutation_p.P219F|SBNO1_uc010taq.2_Intron|SBNO1_uc001ueu.2_Missense_Mutation_p.P219F|SBNO1_uc001uet.2_Missense_Mutation_p.P220F|SBNO1_uc001uev.2_Missense_Mutation_p.P218F|SBNO1_uc009zxy.1_Missense_Mutation_p.P185F NM_001167856 NP_001161328 A3KN83 SBNO1_HUMAN Homo sapiens strawberry notch homolog 1 (Drosophila) (SBNO1), transcript variant 1, mRNA. 220 ATP binding|DNA binding|hydrolase activity NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2) 62 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197) ttttACAACAGGAACCTTCTGC 0.421000 13 9 0 0 0.004672 0 0 PDHA2 5161 broad.mit.edu 37 4 96761447 96761447 + Missense_Mutation SNP C T T TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr4:96761447C>T uc003htr.4 + 0 209 c.146C>T c.(145-147)cCt>cTt p.P49L NM_005390 NP_005381 P29803 ODPAT_HUMAN Homo sapiens pyruvate dehydrogenase (lipoamide) alpha 2 (PDHA2), mRNA. 49 glycolysis mitochondrial matrix pyruvate dehydrogenase (acetyl-transferring) activity p.P48L(1) NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 46 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;1.23e-06) NADH(DB00157) GAGGGTCCCCCTGTCACTACA 0.478000 18 17 0 0 0.006122 0 0 SLC7A2 6542 broad.mit.edu 37 8 17419559 17419559 + Silent SNP C T T TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr8:17419559C>T uc011kye.2 + 9 1779 c.1731C>T c.(1729-1731)ttC>ttT p.F577F SLC7A2_uc011kyc.2_Silent_p.F537F|SLC7A2_uc011kyd.2_Silent_p.F576F NM_001164771 NP_001158243 P52569 CTR2_HUMAN Homo sapiens solute carrier family 7 (cationic amino acid transporter, y+ system), member 2 (SLC7A2), transcript variant 3, mRNA. 537 cellular amino acid metabolic process|ion transport cytoplasm|integral to plasma membrane|membrane fraction basic amino acid transmembrane transporter activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1) 25 Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216) L-Lysine(DB00123)|L-Ornithine(DB00129) TTGTTCTCTTCGTTGCCATCG 0.512000 43 22 0 0 0.001523 0 0 AASDHPPT 60496 broad.mit.edu 37 11 105950416 105950416 + Missense_Mutation SNP C T T TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr11:105950416C>T uc001pjc.1 + 1 552 c.406C>T c.(406-408)Cca>Tca p.P136S KBTBD3_uc001pja.3_5'Flank|KBTBD3_uc001pjb.3_5'Flank|KBTBD3_uc009yxm.3_5'Flank|AASDHPPT_uc010rvn.1_Non-coding_Transcript NM_015423 NP_056238 Q9NRN7 ADPPT_HUMAN Homo sapiens aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferase (AASDHPPT), mRNA. 136 PGRGSI -> FQVVVQF (in Ref. 4; AAG49439). macromolecule biosynthetic process|pantothenate metabolic process cytosol holo-[acyl-carrier-protein] synthase activity|magnesium ion binding|protein binding endometrium(3)|kidney(2)|large_intestine(4)|lung(7)|prostate(1) 17 Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321) BRCA - Breast invasive adenocarcinoma(274;5.78e-05)|Epithelial(105;0.00622)|all cancers(92;0.041) GACTAGTTTTCCAGGTAACGT 0.403000 44 13 0 0 0.001855 0 0 RBMXL2 27288 broad.mit.edu 37 11 7111038 7111038 + Silent SNP G A A TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr11:7111038G>A uc001mfc.2 + 0 874 c.687G>A c.(685-687)cgG>cgA p.R229R NM_014469 NP_055284 O75526 HNRGT_HUMAN Homo sapiens RNA binding motif protein, X-linked-like 2 (RBMXL2), mRNA. 229 Arg/Gly/Pro-rich. nucleus|ribonucleoprotein complex RNA binding|nucleotide binding p.R229Q(1) NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 15 Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189) GCGAACCCCGGGGTTTTGCCC 0.697000 15 9 0 0 0.004482 0 0 PPP3CB 5532 broad.mit.edu 37 10 75204540 75204540 + Missense_Mutation SNP G A A TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr10:75204540G>A uc001juf.3 - 11 1447 c.1312C>T c.(1312-1314)Ccc>Tcc p.P438S PPP3CB_uc001jue.3_Missense_Mutation_p.P437S|PPP3CB_uc001jug.3_Missense_Mutation_p.P438S|PPP3CB_uc001juh.2_Missense_Mutation_p.P352S|PPP3CB_uc001jui.2_Missense_Mutation_p.P455S|PPP3CB_uc010qkj.2_Missense_Mutation_p.P65S NM_001142353 NP_001135825 P16298 PP2BB_HUMAN Homo sapiens protein phosphatase 3, catalytic subunit, beta isozyme (PPP3CB), transcript variant 1, mRNA. 437 breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(7)|skin(1)|urinary_tract(1) 22 Prostate(51;0.0119) ATCCCTGTGGGAGTCAGGCCC 0.463000 16 14 0 0 0.004007 0 0 TM7SF2 7108 broad.mit.edu 37 11 64882836 64882836 + Nonsense_Mutation SNP C T T TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr11:64882836C>T uc001ocv.3 + 5 1603 c.1006C>T c.(1006-1008)Cga>Tga p.R336* TM7SF2_uc001oct.3_Nonsense_Mutation_p.R315*|TM7SF2_uc010rny.2_Nonsense_Mutation_p.R199*|TM7SF2_uc001ocu.3_Intron|BC104003_uc009yqb.1_5'Flank NM_003273 NP_003264 O76062 ERG24_HUMAN Homo sapiens transmembrane 7 superfamily member 2 (TM7SF2), mRNA. 315 cholesterol biosynthetic process endoplasmic reticulum membrane|integral to plasma membrane delta14-sterol reductase activity lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 AAACACTTTCCGAAAGAATCC 0.567000 86 37 0 0 0.006230 0 0 ZNRF4 148066 broad.mit.edu 37 19 5456594 5456594 + Silent SNP C T T TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr19:5456594C>T uc002mca.4 + 0 1169 c.1092C>T c.(1090-1092)tcC>tcT p.S364S NM_181710 NP_859061 Q8WWF5 ZNRF4_HUMAN Homo sapiens zinc and ring finger 4 (ZNRF4), mRNA. 364 integral to membrane zinc ion binding NS(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 16 UCEC - Uterine corpus endometrioid carcinoma (162;0.0002) GCTTTGACTCCACCACCTACA 0.652000 38 36 0 0 0.004289 0 0 NUP98 4928 broad.mit.edu 37 11 3723826 3723826 + Missense_Mutation SNP G A A TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr11:3723826G>A uc001lyh.3 - 22 3800 c.3379C>T c.(3379-3381)Cgt>Tgt p.R1127C NUP98_uc001lyi.3_Missense_Mutation_p.R1127C|NUP98_uc001lyg.3_Intron NM_016320 NP_057404 P52948 NUP98_HUMAN Homo sapiens nucleoporin 98kDa (NUP98), transcript variant 1, mRNA. 1144 DNA replication|carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|mitotic prometaphase|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction Nup107-160 complex|cytosol|nuclear membrane|nucleoplasm protein binding|structural constituent of nuclear pore|transporter activity NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 66 Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227) BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199) CAACCAACACGAAATGAGCGT 0.483000 T """HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11""" AML 28 26 0 0 0.003954 0 0 ADAP2 55803 broad.mit.edu 37 17 29283435 29283435 + Silent SNP G A A TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr17:29283435G>A uc010csk.3 + 9 1356 c.1077G>A c.(1075-1077)ctG>ctA p.L359L ADAP2_uc002hfy.3_Silent_p.L352L|ADAP2_uc010csl.3_Non-coding_Transcript|ADAP2_uc002hfx.3_Silent_p.L353L NM_018404 NP_060874 Q9NPF8 ADAP2_HUMAN Homo sapiens ArfGAP with dual PH domains 2 (ADAP2), mRNA. 353 PH 2. heart development|regulation of ARF GTPase activity mitochondrial envelope|plasma membrane ARF GTPase activator activity|inositol 1,3,4,5 tetrakisphosphate binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding, bridging|zinc ion binding p.?(1) breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1) 13 AGGAATGGCTGGAAAGTTTGC 0.567000 34 20 0 0 0.003330 0 0 TRPC7 57113 broad.mit.edu 37 5 135692623 135692623 + Silent SNP G A A TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr5:135692623G>A uc003lbn.2 - 1 675 c.453C>T c.(451-453)ttC>ttT p.F151F TRPC7_uc010jef.2_Silent_p.F142F|TRPC7_uc010jeg.2_Non-coding_Transcript|TRPC7_uc010jej.2_5'UTR|TRPC7_uc010jeh.2_Silent_p.F151F|TRPC7_uc010jei.2_Silent_p.F151F NM_020389 NP_065122 Q9HCX4 TRPC7_HUMAN Homo sapiens transient receptor potential cation channel, subfamily C, member 7 (TRPC7), transcript variant 1, mRNA. 151 axon guidance|platelet activation integral to membrane|plasma membrane calcium channel activity|protein binding NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3) 46 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) CGTAGGCATAGAAGTCGTCGT 0.652000 90 57 0 0 0.003610 0 0 COL4A4 1286 broad.mit.edu 37 2 227963446 227963446 + Missense_Mutation SNP G A A TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr2:227963446G>A uc021vxr.1 - 17 1269 c.1168C>T c.(1168-1170)Cca>Tca p.P390S COL4A4_uc021vxs.1_Missense_Mutation_p.P390S NM_000092 NP_000083 P53420 CO4A4_HUMAN Homo sapiens collagen, type IV, alpha 4 (COL4A4), mRNA. 390 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) AAGAGACCTGGGGGACCAGGT 0.562000 29 24 0 0 0.006320 0 0 PEG3 5178 broad.mit.edu 37 19 57327202 57327202 + Missense_Mutation SNP C T T TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr19:57327202C>T uc002qnu.2 - 6 2959 c.2608G>A c.(2608-2610)Gat>Aat p.D870N PEG3_uc010ygr.1_Intron|PEG3_uc010ygq.1_Intron|PEG3_uc002qnr.2_Intron|PEG3_uc010etp.2_Intron|PEG3_uc010ygs.1_Intron|PEG3_uc002qnq.2_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.D841N|PEG3_uc002qnv.2_Missense_Mutation_p.D870N|PEG3_uc002qnw.2_Missense_Mutation_p.D746N|PEG3_uc002qnx.2_Missense_Mutation_p.D744N|PEG3_uc010etr.2_Missense_Mutation_p.D870N NM_001146186 NP_001139657 Q9GZU2 PEG3_HUMAN Homo sapiens paternally expressed 3 (PEG3), transcript variant 4, mRNA. 870 apoptosis|viral reproduction cytoplasm|nucleus nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6) 170 Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0269) TGTCGCTTATCATTAAGGTCT 0.433000 49 15 0 0 0.002450 0 0 SLC45A4 57210 broad.mit.edu 37 8 142228193 142228193 + Missense_Mutation SNP G A A TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr8:142228193G>A uc003ywd.1 - 3 1701 c.1393C>T c.(1393-1395)Ctc>Ttc p.L465F SLC45A4_uc003ywc.1_Missense_Mutation_p.L465F|SLC45A4_uc010meq.1_Missense_Mutation_p.L463F NM_001080431 NP_001073900 Q5BKX6 S45A4_HUMAN Homo sapiens solute carrier family 45, member 4 (SLC45A4), mRNA. 516 transport integral to membrane breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 31 all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0493) CAGGTGAGGAGGTGGCAGAGG 0.642000 30 31 0 0 0.003755 0 0 CTNND2 1501 broad.mit.edu 37 5 11364995 11364995 + Silent SNP G T T TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr5:11364995G>T uc003jfa.1 - 7 1330 c.1185C>A c.(1183-1185)tcC>tcA p.S395S CTNND2_uc010itt.2_Silent_p.S304S|CTNND2_uc011cmy.1_Silent_p.S58S|CTNND2_uc011cmz.1_5'UTR|CTNND2_uc010itu.1_Non-coding_Transcript|CTNND2_uc011cmx.1_5'UTR NM_001332 NP_001323 Q9UQB3 CTND2_HUMAN Homo sapiens catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein) (CTNND2), mRNA. 395 multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent adherens junction|cytoplasm|nucleus protein binding NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2) 136 ATGAGGCTCGGGAACCAGCTG 0.488000 54 17 4.14922e-12 5.50844e-12 0.004007 1 0 PAN2 9924 broad.mit.edu 37 12 56716906 56716906 + Missense_Mutation SNP C T T TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr12:56716906C>T uc001skx.3 - 16 2822 c.2445G>A c.(2443-2445)atG>atA p.M815I PAN2_uc001skw.3_5'UTR|PAN2_uc001sky.3_Missense_Mutation_p.M811I|PAN2_uc001skz.3_Missense_Mutation_p.M814I NM_001127460 NP_001120932 Q504Q3 PAN2_HUMAN Homo sapiens PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae) (PAN2), transcript variant 1, mRNA. 815 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process cytosol|nucleus nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 41 TGGTCATCTTCATGCGAATGG 0.488000 84 58 0 0 0.003610 0 0 PCK1 5105 broad.mit.edu 37 20 56137861 56137861 + Silent SNP C T T TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr20:56137861C>T uc002xyn.4 + 3 679 c.516C>T c.(514-516)atC>atT p.I172I PCK1_uc010zzm.2_Intron NM_002591 NP_002582 P35558 PCKGC_HUMAN Homo sapiens phosphoenolpyruvate carboxykinase 1 (soluble) (PCK1), mRNA. 172 gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus cytosol|nucleus GTP binding|carboxylic acid binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 34 Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242) BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07) GCATGCGGATCATGACGCGGA 0.587000 28 22 0 0 0.002299 0 0 KATNAL2 83473 broad.mit.edu 37 18 44595631 44595631 + Missense_Mutation SNP G A A TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr18:44595631G>A uc002lco.3 + 8 844 c.650G>A c.(649-651)gGa>gAa p.G217E KATNAL2_uc010dnq.1_Intron NM_031303 NP_112593 Q8IYT4 KATL2_HUMAN Homo sapiens katanin p60 subunit A-like 2 (KATNAL2), mRNA. 289 cytoplasm|microtubule ATP binding|microtubule-severing ATPase activity central_nervous_system(2)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2) 27 CCCTGGAAAGGACTACTGCTG 0.463000 55 25 0 0 0.007291 0 0 RIOK1 83732 broad.mit.edu 37 6 7393483 7393483 + Missense_Mutation SNP G A A TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr6:7393483G>A uc003mxn.3 + 1 397 c.223G>A c.(223-225)Gga>Aga p.G75R RIOK1_uc003mxm.1_5'UTR NM_031480 NP_694550 Q9BRS2 RIOK1_HUMAN Homo sapiens RIO kinase 1 (yeast) (RIOK1), transcript variant 1, mRNA. 75 ATP binding|protein serine/threonine kinase activity cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 19 Ovarian(93;0.0418) CTGGGATGAAGGAGTTGGAAA 0.438000 38 33 0 0 0.003271 0 0 ITGA7 3679 broad.mit.edu 37 12 56094719 56094719 + Missense_Mutation SNP G C C TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr12:56094719G>C uc001shh.3 - 3 854 c.634C>G c.(634-636)Ctc>Gtc p.L212V ITGA7_uc001shg.3_Missense_Mutation_p.L212V|ITGA7_uc010sps.2_Missense_Mutation_p.L115V|ITGA7_uc009znx.3_Missense_Mutation_p.L99V NM_001144996 NP_001138468 Q13683 ITA7_HUMAN Homo sapiens integrin, alpha 7 (ITGA7), transcript variant 1, mRNA. 212 cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape integrin complex receptor activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 50 CCAAAGAGGAGGTAGTGGCTA 0.572000 27 20 0 0 0.001216 0 0 SAMM50 25813 broad.mit.edu 37 22 44372662 44372662 + Silent SNP C T T TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr22:44372662C>T uc003bej.3 + 8 1007 c.810C>T c.(808-810)tcC>tcT p.S270S SAMM50_uc011aqd.2_Silent_p.S60S|SAMM50_uc003bek.3_Silent_p.S75S NM_015380 NP_056195 Q9Y512 SAM50_HUMAN Homo sapiens sorting and assembly machinery component 50 homolog (S. cerevisiae) (SAMM50), mRNA. 270 protein import into mitochondrial outer membrane integral to membrane|integral to membrane of membrane fraction|mitochondrial sorting and assembly machinery complex protein binding endometrium(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 all_neural(38;0.0966)|Ovarian(80;0.105)|Glioma(61;0.222) GGAATTCTTCCATCTTACCAA 0.438000 29 10 0 0 0.002450 0 0 C11orf2 738 broad.mit.edu 37 11 64875963 64875963 + Silent SNP C T T TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr11:64875963C>T uc001ocr.1 + 4 1060 c.1020C>T c.(1018-1020)ttC>ttT p.F340F C11orf2_uc001ocs.1_Silent_p.F216F NM_013265 NP_037397 Q9UID3 FFR_HUMAN Homo sapiens chromosome 11 open reading frame 2 (C11orf2), mRNA. 340 lipid transport|protein transport Golgi apparatus|integral to membrane cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)|prostate(1) 15 TGGCGGCCTTCGCCCGGCAGC 0.716000 22 23 0 0 0.002299 0 0 PIK3C2B 5287 broad.mit.edu 37 1 204438346 204438346 + Silent SNP G A A TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr1:204438346G>A uc001haw.3 - 2 1064 c.585C>T c.(583-585)gtC>gtT p.V195V PIK3C2B_uc010pqv.2_Silent_p.V195V|PIK3C2B_uc001hax.1_Silent_p.V195V|PIK3C2B_uc009xbd.1_Non-coding_Transcript NM_002646 NP_002637 O00750 P3C2B_HUMAN Homo sapiens phosphoinositide-3-kinase, class 2, beta polypeptide (PIK3C2B), mRNA. 195 Interaction with GRB2. cell communication|phosphatidylinositol-mediated signaling endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 52 all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227) GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193) GCAATTGTTCGACCAAAGAGA 0.577000 167 131 0 0 0.003610 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A T T rs121913377 TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr7:140453136A>T uc003vwc.4 - 14 1860 c.1799T>A c.(1798-1800)gTg>gAg p.V600E NM_004333 NP_004324 P15056 BRAF_HUMAN Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA. 600 Protein kinase. V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis). activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1) SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2) NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3) 27380 Melanoma(164;0.00956) Sorafenib(DB00398) TCGAGATTTCACTGTAGCTAG 0.368000 V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN) 61 """Mis, T, O""" """AKAP9, KIAA1549""" """melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma""" Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 37 33 0 0 0.002445 0 0 PIH1D1 55011 broad.mit.edu 37 19 49950644 49950644 + Nonsense_Mutation SNP G A A TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr19:49950644G>A uc002pns.2 - 5 846 c.562C>T c.(562-564)Cag>Tag p.Q188* NM_017916 NP_060386 Q9NWS0 PIHD1_HUMAN Homo sapiens PIH1 domain containing 1 (PIH1D1), mRNA. 188 box C/D snoRNP assembly pre-snoRNP complex NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(5)|urinary_tract(1) 11 all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15) OV - Ovarian serous cystadenocarcinoma(262;0.00152)|GBM - Glioblastoma multiforme(486;0.0244) CCCAGCTCCTGGATCCGAGGA 0.627000 47 25 0 0 0.004656 0 0 BACE2 25825 broad.mit.edu 37 21 42613773 42613773 + Missense_Mutation SNP G A A TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr21:42613773G>A uc002yyw.3 + 3 1109 c.646G>A c.(646-648)Gac>Aac p.D216N BACE2_uc002yyx.3_Missense_Mutation_p.D216N|BACE2_uc002yyy.3_Missense_Mutation_p.D216N NM_012105 NP_036237 Q9Y5Z0 BACE2_HUMAN Homo sapiens beta-site APP-cleaving enzyme 2 (BACE2), transcript variant a, mRNA. 216 membrane protein ectodomain proteolysis|negative regulation of amyloid precursor protein biosynthetic process|peptide hormone processing Golgi apparatus|cell surface|endoplasmic reticulum|endosome|integral to membrane aspartic-type endopeptidase activity endometrium(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 14 Prostate(19;1.57e-07)|all_epithelial(19;0.0251) GACCTTCTTCGACTCCCTGGT 0.577000 90 62 0 0 0.003610 0 0 ALDH7A1 501 broad.mit.edu 37 5 125896802 125896802 + Missense_Mutation SNP C T T TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr5:125896802C>T uc003ktx.3 - 9 1078 c.886G>A c.(886-888)Gaa>Aaa p.E296K ALDH7A1_uc003ktv.3_5'UTR|ALDH7A1_uc011cxa.2_Missense_Mutation_p.E323K NM_001201377 NP_001188306 P49419 AL7A1_HUMAN Homo sapiens aldehyde dehydrogenase 7 family, member A1 (ALDH7A1), transcript variant 1, mRNA. 296 cellular aldehyde metabolic process|lysine catabolic process|sensory perception of sound cytosol|mitochondrial matrix|nucleus L-aminoadipate-semialdehyde dehydrogenase activity|aldehyde dehydrogenase (NAD) activity|betaine-aldehyde dehydrogenase activity endometrium(1)|kidney(4)|large_intestine(4)|lung(5)|ovary(1)|upper_aerodigestive_tract(1) 16 all_cancers(142;0.24)|Prostate(80;0.081) KIRC - Kidney renal clear cell carcinoma(527;0.0584)|Kidney(363;0.0934) Epithelial(69;0.0417)|OV - Ovarian serous cystadenocarcinoma(64;0.068)|all cancers(49;0.109) NADH(DB00157)|Pyridoxine(DB00165) CCTCCAAGTTCCAACAGACTT 0.348000 52 27 0 0 0.003954 0 0 LOC100507433 100507433 broad.mit.edu 37 19 38104026 38104026 + Silent SNP C T T TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr19:38104026C>T uc002ogq.3 + 4 2212 c.1845C>T c.(1843-1845)gcC>gcT p.A615A LOC100507433_uc002ogu.3_Silent_p.A615A|LOC100507433_uc010efq.3_Silent_p.A583A NM_152606 NP_689819 Homo sapiens zinc finger protein 540 (ZNF540), transcript variant 2, mRNA. GTGGGAAGGCCTTTAGACTTA 0.393000 18 10 0 0 0.000673 0 0 ODZ2 57451 broad.mit.edu 37 5 167626914 167626914 + Missense_Mutation SNP C T T rs113287543 TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr5:167626914C>T uc010jjd.3 + 16 3181 c.3181C>T c.(3181-3183)Cgc>Tgc p.R1061C ODZ2_uc003lzr.4_Missense_Mutation_p.R838C|ODZ2_uc003lzt.4_Missense_Mutation_p.R434C|ODZ2_uc010jje.3_Missense_Mutation_p.R332C NM_001122679 NP_001116151 Homo sapiens odz, odd Oz/ten-m homolog 2 (Drosophila) (ODZ2), mRNA. NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|lung(45)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(2) 122 Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242) Medulloblastoma(196;0.0241)|all_neural(177;0.026) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124) TGTGAAACTTCGCTATCTGAG 0.493000 99 51 0 0 0.003610 0 0 ZNF831 128611 broad.mit.edu 37 20 57767778 57767778 + Silent SNP G A A TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr20:57767778G>A uc002yan.3 + 0 1704 c.1704G>A c.(1702-1704)gaG>gaA p.E568E NM_178457 NP_848552 Q5JPB2 ZN831_HUMAN Homo sapiens zinc finger protein 831 (ZNF831), mRNA. 568 intracellular nucleic acid binding|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3) 125 all_lung(29;0.0085) CCGCGGTGGAGGACCTGCCAG 0.711000 12 5 0 0 0.000602 0 0 RAVER1 125950 broad.mit.edu 37 19 10428173 10428173 + Missense_Mutation SNP C T T TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr19:10428173C>T uc002moa.3 - 12 2308 c.2228G>A c.(2227-2229)gGc>gAc p.G743D FDX1L_uc002mnx.1_5'Flank|FDX1L_uc002mny.1_5'Flank|RAVER1_uc021uou.1_5'Flank|RAVER1_uc002mnz.3_Missense_Mutation_p.A141T NM_133452 NP_597709 Q8IY67 RAVR1_HUMAN Homo sapiens ribonucleoprotein, PTB-binding 1 (RAVER1), mRNA. 0 cytoplasm|nucleus RNA binding|nucleotide binding|protein binding breast(1)|endometrium(3)|large_intestine(1)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(2) 18 OV - Ovarian serous cystadenocarcinoma(20;1.81e-09)|Epithelial(33;3.65e-06)|all cancers(31;8.35e-06) CGCGTAGTGGCCGCCGAGGCC 0.617000 54 22 0 0 0.003330 0 0 PRSS1 5644 broad.mit.edu 37 7 142459821 142459821 + Missense_Mutation SNP C T T TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr7:142459821C>T uc003wak.2 + 2 414 c.397C>T c.(397-399)Cca>Tca p.P133S TRBV5-1_uc011krr.1_Intron|TCRBV2S1_uc003vzp.2_Intron|TCRBV3S1_uc011ksh.2_Intron|TCRBV3S1_uc003vzw.2_Intron|TCRBV3S1_uc011ksi.2_Intron|TCRBV3S1_uc010loj.2_Intron|TCRBV3S1_uc003wag.2_Intron|PRSS1_uc011ksm.1_3'UTR|PRSS1_uc003wam.2_Missense_Mutation_p.P73S NM_002769 NP_002760 P07477 TRY1_HUMAN Homo sapiens protease, serine, 1 (trypsin 1) (PRSS1), mRNA. 133 Peptidase S1. digestion|proteolysis extracellular space metal ion binding|protein binding|serine-type endopeptidase activity central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2) 38 Melanoma(164;0.047) all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165) all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189) CACCGCCCCTCCAGCCACTGG 0.572000 83 37 0 0 0.005524 0 0 VAT1L 57687 broad.mit.edu 37 16 77850830 77850830 + Silent SNP C T T TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr16:77850830C>T uc002ffg.1 + 1 343 c.246C>T c.(244-246)ttC>ttT p.F82F NM_020927 NP_065978 Q9HCJ6 VAT1L_HUMAN Homo sapiens vesicle amine transport protein 1 homolog (T. californica)-like (VAT1L), mRNA. 82 oxidoreductase activity|zinc ion binding central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(10)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 24 GATTAAACTTCATTGACTTGA 0.423000 20 15 0 0 0.004007 0 0 TTC37 9652 broad.mit.edu 37 5 94865928 94865928 + Missense_Mutation SNP G A A TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr5:94865928G>A uc003klb.3 - 10 1054 c.757C>T c.(757-759)Ctt>Ttt p.L253F TTC37_uc010jbf.2_Missense_Mutation_p.L205F NM_014639 NP_055454 Q6PGP7 TTC37_HUMAN Homo sapiens tetratricopeptide repeat domain 37 (TTC37), mRNA. 253 binding breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1) 47 TCATCAGTAAGATTTCCTGGA 0.353000 20 12 0 0 0.001368 0 0 PSG11 5680 broad.mit.edu 37 19 43519355 43519355 + Missense_Mutation SNP G A A TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr19:43519355G>A uc002ovm.1 - 3 984 c.877C>T c.(877-879)Cca>Tca p.P293S PSG4_uc010xwk.1_Intron|PSG11_uc002ovp.1_Missense_Mutation_p.P171S|PSG11_uc002ovo.1_Missense_Mutation_p.P171S NM_002785 NP_002776 Q9UQ72 PSG11_HUMAN Homo sapiens pregnancy specific beta-1-glycoprotein 11 (PSG11), transcript variant 1, mRNA. 293 Ig-like C2-type 2. female pregnancy extracellular region breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 26 Prostate(69;0.00682) TTATGCTTTGGAGTAATCTGA 0.468000 96 56 0 0 0.003610 0 0 KIAA1804 84451 broad.mit.edu 37 1 233489630 233489630 + Missense_Mutation SNP G A A TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr1:233489630G>A uc001hvt.4 + 2 1325 c.1064G>A c.(1063-1065)gGg>gAg p.G355E KIAA1804_uc001hvs.1_Missense_Mutation_p.G355E NM_032435 NP_115811 Q5TCX8 M3KL4_HUMAN Homo sapiens mixed lineage kinase 4 (KIAA1804), mRNA. 355 Protein kinase. activation of JUN kinase activity|protein autophosphorylation ATP binding|MAP kinase kinase kinase activity|protein homodimerization activity NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|large_intestine(18)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(4) 52 all_cancers(173;0.000405)|all_epithelial(177;0.0345)|Prostate(94;0.122) GTGGCTTATGGGGTAGCAGTC 0.512000 49 23 0 0 0.002299 0 0 SDK2 54549 broad.mit.edu 37 17 71419617 71419617 + Missense_Mutation SNP G A A TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr17:71419617G>A uc010dfm.3 - 13 1805 c.1805C>T c.(1804-1806)aCc>aTc p.T602I SDK2_uc010dfn.2_Missense_Mutation_p.T281I NM_001144952 NP_001138424 Q58EX2 SDK2_HUMAN Homo sapiens sidekick cell adhesion molecule 2 (SDK2), mRNA. 602 Fibronectin type-III 1. cell adhesion integral to membrane breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 86 CCTTTCCACGGTGCTGAGAGT 0.597000 16 10 0 0 0.006214 0 0 TRIM71 131405 broad.mit.edu 37 3 32932556 32932556 + Silent SNP C T T TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr3:32932556C>T uc003cff.3 + 3 1923 c.1860C>T c.(1858-1860)atC>atT p.I620I NM_001039111 NP_001034200 Q2Q1W2 LIN41_HUMAN Homo sapiens tripartite motif containing 71 (TRIM71), mRNA. 620 multicellular organismal development cytoplasm zinc ion binding breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 AGGGCTACATCATTGTCGCCG 0.642000 15 13 0 0 0.001855 0 0 LSAMP 4045 broad.mit.edu 37 3 115738448 115738448 + Missense_Mutation SNP A C C TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr3:115738448A>C uc011bis.2 - 2 935 c.428T>G c.(427-429)gTg>gGg p.V143G LSAMP_uc003ebs.3_Missense_Mutation_p.V143G NM_002338 NP_002329 Q13449 LSAMP_HUMAN Homo sapiens limbic system-associated membrane protein (LSAMP), mRNA. 143 Ig-like C2-type 2. cell adhesion|nervous system development anchored to membrane|plasma membrane NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(4)|lung(14)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 31 all_cancers(1;0.00189)|all_epithelial(1;0.0366)|Myeloproliferative disorder(1037;0.17)|all_neural(597;0.208)|Lung NSC(201;0.215) GBM - Glioblastoma multiforme(114;0.00117)|LUSC - Lung squamous cell carcinoma(41;0.0407)|Lung(219;0.152) GCCCTCATTCACAGTGACATC 0.468000 16 18 0 0 0.001216 0 0 MYOCD 93649 broad.mit.edu 37 17 12656124 12656124 + Missense_Mutation SNP C T T TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr17:12656124C>T uc002gno.2 + 9 1818 c.1519C>T c.(1519-1521)Cct>Tct p.P507S MYOCD_uc002gnn.2_Missense_Mutation_p.P507S|MYOCD_uc002gnp.1_Missense_Mutation_p.P411S|MYOCD_uc002gnq.2_Missense_Mutation_p.P226S NM_001146312 NP_001139784 Q8IZQ8 MYCD_HUMAN Homo sapiens myocardin (MYOCD), transcript variant 1, mRNA. 507 Ser-rich. cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation nucleus RNA polymerase II transcription factor binding transcription factor activity|nucleic acid binding|transcription factor binding breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 70 UCEC - Uterine corpus endometrioid carcinoma (92;0.0969) GGGCTCTGTTCCTTCTGAGCT 0.572000 19 12 0 0 0.002450 0 0 FAM149A 25854 broad.mit.edu 37 4 187086508 187086509 + Missense_Mutation DNP GT AA AA rs149087810 TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr4:187086508_187086509GT>AA uc003iyt.4 + 10 1633_1634 c.1054_1055GT>AA c.(1054-1056)gtg>AAg p.V352K FAM149A_uc011cla.1_Missense_Mutation_p.V352K|FAM149A_uc010isl.3_Missense_Mutation_p.V352K|FAM149A_uc011clb.2_Missense_Mutation_p.V352K NM_015398 NP_056213 A5PLN7 F149A_HUMAN Homo sapiens family with sequence similarity 149, member A (FAM149A), transcript variant 1, mRNA. 643 p.G351G(1) breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(2) 25 all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243) OV - Ovarian serous cystadenocarcinoma(60;1.19e-10)|BRCA - Breast invasive adenocarcinoma(30;1.22e-05)|GBM - Glioblastoma multiforme(59;0.000122)|STAD - Stomach adenocarcinoma(60;0.000288)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.166) GCCGACTGGCGTGGACCACATG 0.554000 34 18 0 0 0.004672 0 0 FERMT1 55612 broad.mit.edu 37 20 6068451 6068451 + Missense_Mutation SNP C T T TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr20:6068451C>T uc002wmr.3 - 10 2133 c.1344G>A c.(1342-1344)atG>atA p.M448I FERMT1_uc002wmq.3_Missense_Mutation_p.M1I|FERMT1_uc010gbt.3_Missense_Mutation_p.M191I|FERMT1_uc002wms.3_Missense_Mutation_p.M448I NM_017671 NP_060141 Q9BQL6 FERM1_HUMAN Homo sapiens fermitin family member 1 (FERMT1), mRNA. 448 FERM.|PH. cell adhesion|establishment of epithelial cell polarity|keratinocyte migration|keratinocyte proliferation cytosol|focal adhesion|ruffle membrane binding NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2) 17 ACATTTCATTCATACCATCGG 0.393000 63 21 0 0 0.002780 0 0 FAT4 79633 broad.mit.edu 37 4 126372057 126372057 + Missense_Mutation SNP C T T TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr4:126372057C>T uc003ifj.4 + 8 9886 c.9886C>T c.(9886-9888)Ccc>Tcc p.P3296S FAT4_uc011cgp.2_Missense_Mutation_p.P1594S|FAT4_uc003ifi.1_Missense_Mutation_p.P774S NM_024582 NP_078858 Q6V0I7 FAT4_HUMAN Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA. 3296 Cadherin 31. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 TGAATATGTGCCCCGTTTTGT 0.413000 24 12 0 0 0.001368 0 0 CPT1B 1375 broad.mit.edu 37 22 51009841 51009841 + Missense_Mutation SNP G A A TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr22:51009841G>A uc003bmm.3 - 13 1802 c.1703C>T c.(1702-1704)gCc>gTc p.A568V CPT1B_uc003bmk.4_Missense_Mutation_p.A568V|CPT1B_uc003bml.3_Missense_Mutation_p.A568V|CPT1B_uc003bmo.3_Missense_Mutation_p.A568V|CPT1B_uc011asa.2_Missense_Mutation_p.A534V|CPT1B_uc003bmn.3_Missense_Mutation_p.A568V|CPT1B_uc011asb.2_Missense_Mutation_p.A487V|CPT1B_uc003bmp.3_Missense_Mutation_p.A363V|CPT1B_uc021wsc.1_Non-coding_Transcript|BC048192_uc003bmr.1_Non-coding_Transcript NM_004377 NP_689452 Q92523 CPT1B_HUMAN Homo sapiens carnitine palmitoyltransferase 1B (muscle) (CPT1B), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 568 carnitine shuttle|fatty acid beta-oxidation|regulation of fatty acid oxidation integral to membrane|mitochondrial outer membrane carnitine O-palmitoyltransferase activity central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 22 all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) all cancers(3;3.56e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.39e-74)|Epithelial(4;5.58e-70)|GBM - Glioblastoma multiforme(4;5.59e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.207) CTGCACAAAGGCATCAGGGCT 0.627000 52 43 0 0 0.002852 0 0 C16orf85 400555 broad.mit.edu 37 16 88620449 88620449 + Missense_Mutation SNP G A A TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr16:88620449G>A uc010vox.1 - 1 181 c.181C>T c.(181-183)Ccc>Tcc p.P61S RecName: Full=Putative uncharacterized protein C16orf85; kidney(1)|lung(4) 5 BRCA - Breast invasive adenocarcinoma(80;0.048) TGAGCCTGGGGTAGGGGGATC 0.572000 81 38 0 0 0.005524 0 0 FREM2 341640 broad.mit.edu 37 13 39266618 39266618 + Missense_Mutation SNP G A A TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr13:39266618G>A uc001uwv.3 + 0 5446 c.5137G>A c.(5137-5139)Gac>Aac p.D1713N NM_207361 NP_997244 Q5SZK8 FREM2_HUMAN Homo sapiens FRAS1 related extracellular matrix protein 2 (FREM2), mRNA. 1713 cell communication|homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2) 148 Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114) all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312) TCTCAACCTGGACAAAGGCAA 0.418000 57 23 0 0 0.003330 0 0 CXCR7 57007 broad.mit.edu 37 2 237489778 237489778 + Missense_Mutation SNP C T T TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr2:237489778C>T uc021vys.1 + 0 670 c.670C>T c.(670-672)Ccc>Tcc p.P224S CXCR7_uc010fyq.3_Missense_Mutation_p.P224S|CXCR7_uc002vwd.3_Missense_Mutation_p.P224S NM_020311 NP_064707 P25106 CXCR7_HUMAN Homo sapiens chemokine (C-X-C motif) receptor 7 (CXCR7), mRNA. 224 interspecies interaction between organisms integral to membrane|plasma membrane G-protein coupled receptor activity|protein binding central_nervous_system(1)|large_intestine(2)|skin(1) 4 Breast(86;0.000182)|Renal(207;0.00339)|all_hematologic(139;0.0048)|Acute lymphoblastic leukemia(138;0.0775)|Ovarian(221;0.089)|all_lung(227;0.147)|all_neural(83;0.223) Epithelial(121;8.35e-24)|OV - Ovarian serous cystadenocarcinoma(60;7.09e-11)|Kidney(56;1.11e-07)|KIRC - Kidney renal clear cell carcinoma(57;3.03e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000176)|Lung(119;0.00468)|LUSC - Lung squamous cell carcinoma(224;0.008)|COAD - Colon adenocarcinoma(134;0.118) CTTTGCCGTTCCCTTCTCCAT 0.562000 73 41 0 0 0.001951 0 0 HYDIN 54768 broad.mit.edu 37 16 70926365 70926365 + Missense_Mutation SNP T G G TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr16:70926365T>G uc002ezr.3 - 55 9464 c.9313A>C c.(9313-9315)Aag>Cag p.K3105Q NM_032821 NP_116210 Q4G0P3 HYDIN_HUMAN Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA. 3106 breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 43 Ovarian(137;0.0654) AGTGAACCCTTTTTGGGTTGG 0.433000 71 25 0 0 0.007291 0 0 UNC13C 440279 broad.mit.edu 37 15 54305830 54305830 + Missense_Mutation SNP G A A TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr15:54305830G>A uc021smr.1 + 0 730 c.730G>A c.(730-732)Gaa>Aaa p.E244K UNC13C_uc021sms.1_Missense_Mutation_p.E244K NM_001080534 NP_001074003 Q8NB66 UN13C_HUMAN Homo sapiens unc-13 homolog C (C. elegans) (UNC13C), mRNA. 244 exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4) 121 GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124) TGATGTCATGGAAATGATCTT 0.448000 13 14 0 0 0.001855 0 0 CCDC54 84692 broad.mit.edu 37 3 107096810 107096810 + Missense_Mutation SNP A G G TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr3:107096810A>G uc003dwi.1 + 0 623 c.376A>G c.(376-378)Atc>Gtc p.I126V NM_032600 NP_115989 Q8NEL0 CCD54_HUMAN Homo sapiens coiled-coil domain containing 54 (CCDC54), mRNA. 126 NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 19 GACTAAAGATATCCTCTCTAT 0.383000 17 10 0 0 0.006214 0 0 TUBB6 84617 broad.mit.edu 37 18 12325112 12325112 + Silent SNP G A A TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr18:12325112G>A uc002kqw.3 + 3 359 c.324G>A c.(322-324)gaG>gaA p.E108E TUBB6_uc002kqv.3_Silent_p.E36E|TUBB6_uc010dld.3_Non-coding_Transcript|TUBB6_uc002kqy.3_Intron NM_032525 NP_115914 Q9BUF5 TBB6_HUMAN Homo sapiens tubulin, beta 6 class V (TUBB6), mRNA. 108 'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|structural molecule activity endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1) 14 READ - Rectum adenocarcinoma(1;0.0649) ACTACACGGAGGGCGCGGAGC 0.652000 37 41 0 0 0.002522 0 0 UNC5CL 222643 broad.mit.edu 37 6 41001672 41001672 + Missense_Mutation SNP G A A TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr6:41001672G>A uc003opi.3 - 2 733 c.634C>T c.(634-636)Ccg>Tcg p.P212S UNC5CL_uc010jxe.1_Missense_Mutation_p.P212S NM_173561 NP_775832 Q8IV45 UN5CL_HUMAN Homo sapiens unc-5 homolog C (C. elegans)-like (UNC5CL), mRNA. 212 Interaction with RELA and NFKB1. signal transduction cytoplasm|integral to membrane endometrium(1)|kidney(3)|large_intestine(3)|lung(3)|ovary(2)|upper_aerodigestive_tract(1) 13 Ovarian(28;0.0418)|Colorectal(47;0.196) TGGGCCCCCGGCCGCCCCAGG 0.627000 22 16 0 0 0.004990 0 0 SLC2A14 144195 broad.mit.edu 37 12 7982478 7982478 + Missense_Mutation SNP C T T TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr12:7982478C>T uc010sgh.2 - 3 532 c.511G>A c.(511-513)Gga>Aga p.G171R SLC2A14_uc001qtk.3_Missense_Mutation_p.G156R|SLC2A14_uc001qtl.3_Missense_Mutation_p.G133R|SLC2A14_uc001qtm.3_Missense_Mutation_p.G133R|SLC2A14_uc010sgg.2_Missense_Mutation_p.G47R|SLC2A14_uc001qtn.3_Missense_Mutation_p.G156R|SLC2A14_uc001qto.3_Intron NM_153449 NP_703150 Q8TDB8 GTR14_HUMAN Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 14 (SLC2A14), mRNA. 156 cell differentiation|multicellular organismal development|spermatogenesis integral to membrane glucose transmembrane transporter activity central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1) 38 Kidney(36;0.0883) GTGCAGAGTCCGCAGAAGAGG 0.537000 32 12 0 0 0.001855 0 0 MYBL2 4605 broad.mit.edu 37 20 42331398 42331398 + Missense_Mutation SNP C T T TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr20:42331398C>T uc002xlb.1 + 7 1435 c.1220C>T c.(1219-1221)cCc>cTc p.P407L MYBL2_uc010zwj.1_Missense_Mutation_p.P383L NM_002466 NP_002457 P10244 MYBB_HUMAN Homo sapiens v-myb myeloblastosis viral oncogene homolog (avian)-like 2 (MYBL2), mRNA. 407 nucleus DNA binding|sequence-specific DNA binding transcription factor activity endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 46 Myeloproliferative disorder(115;0.00452) COAD - Colon adenocarcinoma(18;0.0031) GGCACACCGCCCTCTGTGCTC 0.622000 33 12 0 0 0.001368 0 0 MAGEE1 57692 broad.mit.edu 37 X 75649675 75649675 + Missense_Mutation SNP A C C TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chrX:75649675A>C uc004ecm.2 + 0 1630 c.1352A>C c.(1351-1353)aAg>aCg p.K451T NM_020932 NP_065983 Q9HCI5 MAGE1_HUMAN Homo sapiens melanoma antigen family E, 1 (MAGEE1), mRNA. 451 dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1) 51 GAGGGTCCTAAGGGTGCAGAA 0.527000 10 14 0 0 0.001855 0 0 POLR3A 11128 broad.mit.edu 37 10 79781924 79781924 + Silent SNP G A A TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr10:79781924G>A uc001jzn.3 - 5 997 c.864C>T c.(862-864)ttC>ttT p.F288F NM_007055 NP_008986 O14802 RPC1_HUMAN Homo sapiens polymerase (RNA) III (DNA directed) polypeptide A, 155kDa (POLR3A), mRNA. 288 innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter DNA-directed RNA polymerase III complex DNA binding|DNA-directed RNA polymerase activity|ribonucleoside binding|zinc ion binding breast(1)|endometrium(7)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 59 all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095) Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646) CATCGTTTAGGAAAATGATTT 0.373000 48 22 0 0 0.002299 0 0 HDAC4 9759 broad.mit.edu 37 2 240033241 240033241 + Silent SNP G A A TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr2:240033241G>A uc002vyk.4 - 13 2736 c.1944C>T c.(1942-1944)acC>acT p.T648T HDAC4_uc010fyz.1_Silent_p.T643T|HDAC4_uc010zoa.1_Silent_p.T648T|HDAC4_uc010fza.2_Silent_p.T653T|HDAC4_uc010fyy.3_Silent_p.T605T|HDAC4_uc010znz.1_Silent_p.T531T NM_006037 NP_006028 P56524 HDAC4_HUMAN Homo sapiens histone deacetylase 4 (HDAC4), mRNA. 648 B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent histone deacetylase complex|transcriptional repressor complex NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|potassium ion binding|repressing transcription factor binding|zinc ion binding NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5) 62 all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159) Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04) ACCTCGGCTTGGTGGGGGGCT 0.706000 18 11 0 0 0.002450 0 0 RPS6KA1 6195 broad.mit.edu 37 1 26888049 26888049 + Silent SNP G A A TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr1:26888049G>A uc001bmr.1 + 16 1648 c.1485G>A c.(1483-1485)ggG>ggA p.G495G RPS6KA1_uc010ofe.1_Silent_p.G403G|RPS6KA1_uc010off.1_Silent_p.G479G|RPS6KA1_uc001bms.1_Silent_p.G504G|RPS6KA1_uc009vsl.1_Silent_p.G338G NM_002953 NP_002944 Q15418 KS6A1_HUMAN Homo sapiens ribosomal protein S6 kinase, 90kDa, polypeptide 1 (RPS6KA1), transcript variant 1, mRNA. 495 Protein kinase 2. MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|axon guidance|innate immune response|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|caspase inhibitor activity|magnesium ion binding|protein binding|protein serine/threonine kinase activity lung(1) 1 all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234) TGCGGGGTGGGGAGCTGCTGG 0.567000 87 59 0 0 0.003610 0 0 OR10A6 390093 broad.mit.edu 37 11 7949601 7949601 + Silent SNP G A A TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr11:7949601G>A uc010rbh.2 - 0 609 c.609C>T c.(607-609)acC>acT p.T203T NM_001004461 NP_001004461 Q8NH74 O10A6_HUMAN Homo sapiens olfactory receptor, family 10, subfamily A, member 6 (OR10A6), mRNA. 203 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 22 Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189) TAATCAAAAAGGTGCCTGTGA 0.393000 8 7 0 0 0.001984 0 0 SCN9A 6335 broad.mit.edu 37 2 167089885 167089885 + Missense_Mutation SNP G A A TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr2:167089885G>A uc010fpl.3 - 20 4197 c.3856C>T c.(3856-3858)Cct>Tct p.P1286S BC051759_uc002udp.3_Intron NM_002977 NP_002968 Q15858 SCN9A_HUMAN Homo sapiens sodium channel, voltage-gated, type IX, alpha subunit (SCN9A), mRNA. 1297 voltage-gated sodium channel complex voltage-gated sodium channel activity NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 108 Lamotrigine(DB00555)|Lidocaine(DB00281) GCTCTTAGAGGTCTTAAAGCT 0.333000 6 4 0 0 0.000248 0 0 IFIT3 3437 broad.mit.edu 37 10 91099111 91099111 + Silent SNP C T T TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr10:91099111C>T uc001kgf.3 + 1 928 c.699C>T c.(697-699)gcC>gcT p.A233A LIPA_uc001kgb.4_Intron|LIPA_uc001kgc.4_Intron|BC040833_uc001kgd.3_Intron|IFIT3_uc001kgg.3_Silent_p.A233A NM_001549 NP_001540 O14879 IFIT3_HUMAN Homo sapiens interferon-induced protein with tetratricopeptide repeats 3 (IFIT3), transcript variant 1, mRNA. 233 type I interferon-mediated signaling pathway protein binding breast(1)|central_nervous_system(3)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)|urinary_tract(1) 15 TTGAAGAAGCCTTGGAAAAGT 0.443000 36 32 0 0 0.002096 0 0 MAGI1 9223 broad.mit.edu 37 3 65415434 65415434 + Missense_Mutation SNP G A A TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr3:65415434G>A uc003dmn.3 - 11 2454 c.1928C>T c.(1927-1929)aCt>aTt p.T643I MAGI1_uc003dmm.3_Missense_Mutation_p.T643I|MAGI1_uc003dmo.3_Missense_Mutation_p.T643I|MAGI1_uc003dmp.3_Missense_Mutation_p.T643I|MAGI1_uc010hny.2_Missense_Mutation_p.T528I NM_001033057 NP_001028229 Q96QZ7 MAGI1_HUMAN Homo sapiens membrane associated guanylate kinase, WW and PDZ domain containing 1 (MAGI1), transcript variant 3, mRNA. 643 PDZ 3. cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly tight junction ATP binding|protein C-terminus binding breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5) 51 Lung NSC(201;0.0016) BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133) AATATGAACAGTTATGAGTTC 0.488000 18 12 0 0 0.001368 0 0 ALDH6A1 4329 broad.mit.edu 37 14 74531550 74531550 + Missense_Mutation SNP C T T TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr14:74531550C>T uc001xpo.3 - 10 1577 c.1478G>A c.(1477-1479)gGa>gAa p.G493E C14orf45_uc010tup.2_3'UTR|C14orf45_uc001xpm.1_Intron|ALDH6A1_uc010tuq.2_Missense_Mutation_p.G480E|ALDH6A1_uc010asa.3_Missense_Mutation_p.G338E NM_005589 NP_005580 Q02252 MMSA_HUMAN Homo sapiens aldehyde dehydrogenase 6 family, member A1 (ALDH6A1), nuclear gene encoding mitochondrial protein, mRNA. 493 mitochondrial matrix|nucleus fatty-acyl-CoA binding|malonate-semialdehyde dehydrogenase (acetylating) activity|methylmalonate-semialdehyde dehydrogenase (acylating) activity NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(3)|skin(3) 21 BRCA - Breast invasive adenocarcinoma(234;0.00354) NADH(DB00157) ATTGGTGTCTCCCCTGAAGGA 0.403000 21 10 0 0 0.000673 0 0 ARHGEF11 9826 broad.mit.edu 37 1 156909555 156909555 + Missense_Mutation SNP C T T TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr1:156909555C>T uc001fqo.3 - 35 4801 c.3761G>A c.(3760-3762)gGg>gAg p.G1254E ARHGEF11_uc010phu.2_Missense_Mutation_p.G670E|ARHGEF11_uc001fqn.3_Missense_Mutation_p.G1294E NM_014784 NP_055599 O15085 ARHGB_HUMAN Homo sapiens Rho guanine nucleotide exchange factor (GEF) 11 (ARHGEF11), transcript variant 1, mRNA. 1254 G-protein coupled receptor protein signaling pathway|Rho protein signal transduction|actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of Rho protein signal transduction|regulation of cell growth|striated muscle contraction Golgi apparatus|cytosol|plasma membrane G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2) 81 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) GGGTGCTTGCCCTGGGGAGCC 0.637000 37 20 0 0 0.001882 0 0 FLAD1 80308 broad.mit.edu 37 1 154962690 154962691 + Missense_Mutation DNP CC TT TT TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr1:154962690_154962691CC>TT uc001fgf.2 + 3 1722_1723 c.1321_1322CC>TT c.(1321-1323)cct>TTt p.P441F FLAD1_uc001fgd.2_Missense_Mutation_p.P441F|FLAD1_uc001fge.2_Missense_Mutation_p.P344F|FLAD1_uc001fgg.2_Missense_Mutation_p.P344F|FLAD1_uc001fgh.1_Missense_Mutation_p.L125F NM_025207 NP_958800 Q8NFF5 FAD1_HUMAN Homo sapiens FAD1 flavin adenine dinucleotide synthetase homolog (S. cerevisiae) (FLAD1), transcript variant 1, mRNA. 441 FAD synthase. FAD biosynthetic process|Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process cytosol ATP binding|FMN adenylyltransferase activity p.P441H(2) endometrium(3)|kidney(4)|large_intestine(2)|lung(7)|ovary(3)|skin(3) 22 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) CAGCATCTCCCCTTTCCCTGAG 0.540000 123 71 0 0 0.004672 0 0 CALN1 83698 broad.mit.edu 37 7 71252847 71252847 + Silent SNP C T T TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr7:71252847C>T uc003twb.4 - 6 1090 c.699G>A c.(697-699)aaG>aaA p.K233K CALN1_uc003twa.4_Silent_p.K191K|CALN1_uc003twc.4_Silent_p.K191K NM_031468 NP_001017440 Q9BXU9 CABP8_HUMAN Homo sapiens calneuron 1 (CALN1), transcript variant 1, mRNA. 191 Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|plasma membrane calcium ion binding biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(6)|lung(19)|skin(2) 32 all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161) ATATGAGGCTCTTCCGGACGC 0.562000 61 23 0 0 0.003330 0 0 MRPL23 6150 broad.mit.edu 37 11 1977578 1977578 + Silent SNP C T T TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr11:1977578C>T uc001lux.3 + 4 481 c.390C>T c.(388-390)ctC>ctT p.L130L NM_021134 NP_066957 Q16540 RM23_HUMAN Homo sapiens mitochondrial ribosomal protein L23 (MRPL23), nuclear gene encoding mitochondrial protein, mRNA. 130 translation mitochondrial large ribosomal subunit RNA binding|nucleotide binding|structural constituent of ribosome large_intestine(2)|lung(1)|ovary(1) 4 all_epithelial(84;6.24e-05)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.0026)|Lung(200;0.0171)|LUSC - Lung squamous cell carcinoma(625;0.0842) ACAGCATGCTCGAGGAGGAGA 0.677000 18 25 0 0 0.003330 0 0 GRAMD1B 57476 broad.mit.edu 37 11 123479417 123479417 + Missense_Mutation SNP G A A TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr11:123479417G>A uc001pyw.2 + 11 1485 c.1156G>A c.(1156-1158)Gaa>Aaa p.E386K GRAMD1B_uc001pyx.2_Missense_Mutation_p.E379K|GRAMD1B_uc010rzw.2_Missense_Mutation_p.E339K|GRAMD1B_uc010rzx.1_Missense_Mutation_p.E339K|GRAMD1B_uc009zbe.1_Missense_Mutation_p.E375K|GRAMD1B_uc001pyy.2_Missense_Mutation_p.E70K NM_020716 NP_065767 Q3KR37 GRM1B_HUMAN Homo sapiens GRAM domain containing 1B (GRAMD1B), mRNA. 379 integral to membrane NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2) 30 Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.32e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0394) GTACGTGAATGAAGTCTTCAA 0.567000 4 8 0 0 0.003080 0 0 DDO 8528 broad.mit.edu 37 6 110714252 110714252 + Missense_Mutation SNP C T T TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr6:110714252C>T uc003puc.3 - 4 840 c.836G>A c.(835-837)aGc>aAc p.S279N METTL24_uc003pub.2_Intron|DDO_uc003pud.3_Missense_Mutation_p.S220N NM_003649 NP_003640 Q99489 OXDD_HUMAN Homo sapiens D-aspartate oxidase (DDO), transcript variant 1, mRNA. 251 aspartate catabolic process peroxisome D-amino-acid oxidase activity|D-aspartate oxidase activity|binding breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|pancreas(1)|skin(3) 24 all_cancers(87;3.47e-21)|all_epithelial(87;9.03e-20)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_lung(197;2.98e-05)|Lung NSC(302;3.25e-05)|Colorectal(196;3.46e-05)|Ovarian(999;0.00327) all cancers(137;2.54e-48)|Epithelial(106;3.11e-44)|OV - Ovarian serous cystadenocarcinoma(136;2.08e-24)|BRCA - Breast invasive adenocarcinoma(108;0.000141)|GBM - Glioblastoma multiforme(226;0.00046) AATCTCTCTGCTATTTTCTGC 0.552000 166 69 0 0 0.003610 0 0 ZNF618 114991 broad.mit.edu 37 9 116812373 116812373 + Silent SNP C T T TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr9:116812373C>T uc004bid.3 + 14 2890 c.2791C>T c.(2791-2793)Cta>Tta p.L931L ZNF618_uc004bic.3_Silent_p.L838L|ZNF618_uc011lxi.2_Silent_p.L898L|ZNF618_uc011lxj.2_Silent_p.L899L|ZNF618_uc010mvb.3_Silent_p.L521L NM_133374 NP_588615 Q5T7W0 ZN618_HUMAN Homo sapiens zinc finger protein 618 (ZNF618), mRNA. 931 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(4)|lung(10)|urinary_tract(1) 16 ACAAGCGCTTCTAATCAAACG 0.493000 85 42 0 0 0.002522 0 0 PHRF1 57661 broad.mit.edu 37 11 608886 608886 + Missense_Mutation SNP G A A TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr11:608886G>A uc001lqe.3 + 13 3561 c.3430G>A c.(3430-3432)Gag>Aag p.E1144K PHRF1_uc010qwc.2_Missense_Mutation_p.E1143K|PHRF1_uc010qwd.2_Missense_Mutation_p.E1142K|PHRF1_uc010qwe.2_Missense_Mutation_p.E1140K|PHRF1_uc009ybz.1_Missense_Mutation_p.E934K|PHRF1_uc009yca.2_Non-coding_Transcript NM_020901 NP_065952 Q9P1Y6 PHRF1_HUMAN Homo sapiens PHD and ring finger domains 1 (PHRF1), mRNA. 1144 Arg-rich. RNA polymerase binding|zinc ion binding breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2) 28 ACGCAGCCACGAGCGGCCAGA 0.677000 14 10 0 0 0.000978 0 0 FGD3 89846 broad.mit.edu 37 9 95768333 95768333 + Missense_Mutation SNP C G G TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr9:95768333C>G uc004asz.2 + 5 1236 c.708C>G c.(706-708)atC>atG p.I236M FGD3_uc004asw.2_Missense_Mutation_p.I236M|FGD3_uc004asx.2_Missense_Mutation_p.I236M|FGD3_uc004ata.3_Missense_Mutation_p.I39M NM_033086 NP_149077 Q5JSP0 FGD3_HUMAN Homo sapiens FYVE, RhoGEF and PH domain containing 3 (FGD3), transcript variant 2, mRNA. 236 DH. actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction Golgi apparatus|cytoskeleton|cytosol|lamellipodium|ruffle Rho guanyl-nucleotide exchange factor activity|metal ion binding|small GTPase binding breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1) 17 TCGGGGACATCCTGCAGAAGC 0.557000 100 39 0 0 0.007835 0 0 ZNF662 389114 broad.mit.edu 37 3 42956042 42956042 + Silent SNP C T T TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr3:42956042C>T uc003cmk.2 + 3 741 c.555C>T c.(553-555)gtC>gtT p.V185V ZNF662_uc003cmi.2_Silent_p.V159V|ZNF662_uc003cmj.2_Silent_p.V51V NM_001134656 NP_001128128 Q6ZS27 ZN662_HUMAN Homo sapiens zinc finger protein 662 (ZNF662), transcript variant 2, mRNA. 159 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(1)|large_intestine(6)|lung(5)|upper_aerodigestive_tract(1) 15 KIRC - Kidney renal clear cell carcinoma(284;0.217) AAGTGATTGTCAAGGATGAGA 0.383000 20 12 0 0 0.000978 0 0 C8G 733 broad.mit.edu 37 9 139840445 139840445 + Missense_Mutation SNP C T T TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr9:139840445C>T uc004cka.2 + 2 415 c.340C>T c.(340-342)Ctt>Ttt p.L114F FBXW5_uc004cjx.3_5'Flank|FBXW5_uc004cjy.3_5'Flank|FBXW5_uc004cjz.3_5'Flank NM_000606 NP_000597 P07360 CO8G_HUMAN Homo sapiens complement component 8, gamma polypeptide (C8G), mRNA. 114 complement activation, alternative pathway|complement activation, classical pathway|cytolysis extracellular region|membrane attack complex retinol binding|transporter activity NS(1)|prostate(1)|skin(1) 3 all_cancers(76;0.11) Myeloproliferative disorder(178;0.0511) STAD - Stomach adenocarcinoma(284;0.19) OV - Ovarian serous cystadenocarcinoma(145;7.88e-06)|Epithelial(140;0.000107) CCGCTTCCTGCTTCAAGGTGA 0.677000 4 4 0 0 0.000602 0 0 LRP1B 53353 broad.mit.edu 37 2 141739771 141739771 + Missense_Mutation SNP C T T TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr2:141739771C>T uc002tvj.1 - 17 3817 c.2845G>A c.(2845-2847)Gaa>Aaa p.E949K LRP1B_uc010fnl.1_Missense_Mutation_p.E131K NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA. 949 LDL-receptor class A 5. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) CAGTCGTCTTCCCTGTCACAC 0.438000 TSP Lung(27;0.18) 23 11 0 0 0.000673 0 0 ABCA10 10349 broad.mit.edu 37 17 67149465 67149465 + Missense_Mutation SNP C T T TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr17:67149465C>T uc010dfa.1 - 34 4996 c.4117G>A c.(4117-4119)Gag>Aag p.E1373K ABCA10_uc002jhz.3_5'Flank|ABCA10_uc010wqs.1_Missense_Mutation_p.E365K|ABCA10_uc010wqt.1_Non-coding_Transcript NM_080282 NP_525021 Q8WWZ4 ABCAA_HUMAN Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 10 (ABCA10), mRNA. 1373 ABC transporter 2. transport integral to membrane ATP binding|ATPase activity breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4) 81 Breast(10;6.95e-12) TGCTGCCCCTCGGGGTCCATC 0.478000 70 31 0 0 0.002445 0 0 OR8D1 283159 broad.mit.edu 37 11 124180280 124180280 + Missense_Mutation SNP C T T TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr11:124180280C>T uc010sag.2 - 0 383 c.383G>A c.(382-384)aGc>aAc p.S128N NM_001002917 NP_001002917 Q8WZ84 OR8D1_HUMAN Homo sapiens olfactory receptor, family 8, subfamily D, member 1 (OR8D1), mRNA. 128 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(1)|large_intestine(1)|lung(7)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528) AAGCAGTGGGCTACAGATGGC 0.498000 10 7 0 0 0.001984 0 0 SEPT12 124404 broad.mit.edu 37 16 4834041 4834041 + Missense_Mutation SNP C T T TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr16:4834041C>T uc002cxq.3 - 4 667 c.403G>A c.(403-405)Gag>Aag p.E135K SEPT12_uc002cxr.3_Intron|SEPT12_uc010bty.3_Non-coding_Transcript NM_144605 NP_653206 Q8IYM1 SEP12_HUMAN Homo sapiens septin 12 (SEPT12), transcript variant 2, mRNA. 135 cell cycle|cell division cleavage furrow|midbody|perinuclear region of cytoplasm|septin complex|spindle|stress fiber GDP binding|GTP binding|phosphatidylinositol binding|protein homodimerization activity NS(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|skin(2)|stomach(3) 23 TCGTATTGCTCGTTGATGTAG 0.627000 99 44 0 0 0.003610 0 0 CNTNAP2 26047 broad.mit.edu 37 7 146829347 146829347 + Missense_Mutation SNP G A A TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr7:146829347G>A uc003weu.2 + 7 1610 c.1094G>A c.(1093-1095)aGc>aAc p.S365N NM_014141 NP_054860 Q9UHC6 CNTP2_HUMAN Homo sapiens contactin associated protein-like 2 (CNTNAP2), mRNA. 365 Laminin G-like 1. behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex receptor binding NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3) 188 Melanoma(164;0.153) all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794) OV - Ovarian serous cystadenocarcinoma(82;0.0319) GGAAATTTGAGCTTTTCTTGT 0.433000 HNSCC(39;0.1) 38 11 0 0 0.000978 0 0 OR8B8 26493 broad.mit.edu 37 11 124310178 124310178 + Missense_Mutation SNP C T T TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr11:124310178C>T uc010sal.2 - 0 804 c.804G>A c.(802-804)atG>atA p.M268I NM_012378 NP_036510 Q15620 OR8B8_HUMAN Homo sapiens olfactory receptor, family 8, subfamily B, member 8 (OR8B8), mRNA. 268 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 Breast(109;0.0115)|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;0.0277) TGCCCTGGTTCATAGCTAAAA 0.453000 27 21 0 0 0.001216 0 0 ABL1 25 broad.mit.edu 37 9 133759803 133759803 + Missense_Mutation SNP C T T TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr9:133759803C>T uc004bzw.3 + 10 2129 c.2126C>T c.(2125-2127)tCc>tTc p.S709F ABL1_uc004bzv.3_Missense_Mutation_p.S728F NM_005157 NP_005148 P00519 ABL1_HUMAN Homo sapiens c-abl oncogene 1, non-receptor tyrosine kinase (ABL1), transcript variant a, mRNA. 709 DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm ATP binding|DNA binding|SH3 domain binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 1195 all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;5.4e-05) Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619) GGTGGCAGCTCCAGCAAGCGC 0.682000 """T, Mis""" """BCR, ETV6, NUP214""" """CML, ALL, T-ALL""" 32 18 0 0 0.004990 0 0 MARCO 8685 broad.mit.edu 37 2 119739818 119739818 + Missense_Mutation SNP C T T TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr2:119739818C>T uc002tln.1 + 10 1120 c.988C>T c.(988-990)Cct>Tct p.P330S MARCO_uc010yyf.1_Missense_Mutation_p.P252S NM_006770 NP_006761 Q9UEW3 MARCO_HUMAN Homo sapiens macrophage receptor with collagenous structure (MARCO), mRNA. 330 Collagen-like. cell surface receptor linked signaling pathway|innate immune response collagen|integral to plasma membrane pattern recognition receptor activity|scavenger receptor activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 70 TGCTGGCTCCCCTGGGCGAGC 0.607000 59 48 0 0 0.002852 0 0 FLT3 2322 broad.mit.edu 37 13 28636206 28636206 + Splice_Site SNP C T T TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr13:28636206C>T uc001urw.3 - 3 248 c.166_splice c.e3-1 p.V56_splice FLT3_uc010aao.3_Splice_Site|FLT3_uc010tdn.2_Splice_Site_p.V56_splice NM_004119 NP_004110 P36888 FLT3_HUMAN Homo sapiens fms-related tyrosine kinase 3 (FLT3), mRNA. 56 positive regulation of cell proliferation integral to plasma membrane ATP binding|vascular endothelial growth factor receptor activity NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 12390 Acute lymphoblastic leukemia(6;0.04) Lung SC(185;0.0156)|Ovarian(182;0.0392) Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105) OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212) Sorafenib(DB00398)|Sunitinib(DB01268) GATTCTGATACCTACGTTGCA 0.483000 """Mis, O""" """AML, ALL""" 47 22 0 0 0.001882 0 0 SDHAP2 727956 broad.mit.edu 37 3 195410687 195410687 + Missense_Mutation SNP T A A rs6583274 by1000genomes TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr3:195410687T>A uc003fuw.3 + 12 1778 c.584T>A c.(583-585)gTg>gAg p.V195E SDHAP2_uc003fuv.3_Non-coding_Transcript Homo sapiens succinate dehydrogenase complex, subunit A, flavoprotein pseudogene 2 (SDHAP2), non-coding RNA. CCCTTTGAGGTGCACTGGAGG 0.567000 33 4 0 0 0.000248 0 0 PPFIA2 8499 broad.mit.edu 37 12 81833757 81833757 + Missense_Mutation SNP A C C TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr12:81833757A>C uc001szo.2 - 6 800 c.639T>G c.(637-639)aaT>aaG p.N213K PPFIA2_uc010sug.2_Non-coding_Transcript|PPFIA2_uc021rbg.1_Missense_Mutation_p.N139K|PPFIA2_uc021rbh.1_Intron|PPFIA2_uc021rbi.1_Missense_Mutation_p.N213K|PPFIA2_uc021rbj.1_Missense_Mutation_p.N213K|PPFIA2_uc021rbk.1_Missense_Mutation_p.N195K|PPFIA2_uc021rbl.1_Missense_Mutation_p.N213K|PPFIA2_uc010sue.2_Missense_Mutation_p.N113K NM_003625 NP_003616 B7Z663 B7Z663_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2 (PPFIA2), transcript variant 1, mRNA. 139 p.A212T(1) NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5) 85 TTACCTCCTGATTAGCAGCAG 0.408000 26 14 0 0 0.002450 0 0 RILPL2 196383 broad.mit.edu 37 12 123900458 123900458 + Nonsense_Mutation SNP G A A TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr12:123900458G>A uc001uey.1 - 3 913 c.616C>T c.(616-618)Cga>Tga p.R206* NM_145058 NP_659495 Q969X0 RIPL2_HUMAN Homo sapiens Rab interacting lysosomal protein-like 2 (RILPL2), mRNA. 206 cytosol|plasma membrane identical protein binding endometrium(1)|large_intestine(2)|lung(2)|skin(1) 6 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000546)|Epithelial(86;0.00179)|all cancers(50;0.0168) TTCCCCGATCGAAAAAAGAAC 0.498000 156 102 0 0 0.003610 0 0 TRPM5 29850 broad.mit.edu 37 11 2436058 2436059 + Missense_Mutation DNP CC TT TT TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr11:2436058_2436059CC>TT uc010qxl.2 - 10 1639_1640 c.1630_1631GG>AA c.(1630-1632)ggt>AAt p.G544N TRPM5_uc001lwm.4_Missense_Mutation_p.G544N|TRPM5_uc009ydn.3_Missense_Mutation_p.G546N NM_014555 NP_055370 Q9NZQ8 TRPM5_HUMAN Homo sapiens transient receptor potential cation channel, subfamily M, member 5 (TRPM5), mRNA. 544 integral to membrane|plasma membrane receptor activity|voltage-gated ion channel activity breast(1)|central_nervous_system(1)|endometrium(4)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2) 23 Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311) BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191) GGCTGCCACACCTTCCTGGCCC 0.698000 42 57 0 0 0.004672 0 0 KIAA1430 57587 broad.mit.edu 37 4 186097008 186097008 + Missense_Mutation SNP G A A TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr4:186097008G>A uc003ixf.4 - 2 1399 c.1252C>T c.(1252-1254)Ccc>Tcc p.P418S KIAA1430_uc003ixg.3_Missense_Mutation_p.P418S NM_020827 NP_065878 Q9P2B7 K1430_HUMAN Homo sapiens KIAA1430 (KIAA1430), mRNA. 418 endometrium(3)|kidney(2)|large_intestine(5)|upper_aerodigestive_tract(1) 11 all_lung(41;1.19e-13)|Lung NSC(41;3.16e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00872)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243) all cancers(43;9.44e-26)|Epithelial(43;2.64e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.66e-11)|Colorectal(24;6.03e-05)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.000331)|COAD - Colon adenocarcinoma(29;0.000427)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00924)|READ - Rectum adenocarcinoma(43;0.165) AACTTTGGGGGATGATCAGCC 0.413000 76 31 0 0 0.007291 0 0 ZNF195 7748 broad.mit.edu 37 11 3380423 3380423 + Silent SNP G A A TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr11:3380423G>A uc001lxt.3 - 5 1997 c.1815C>T c.(1813-1815)ccC>ccT p.P605P ZNF195_uc010qxr.2_Silent_p.P586P|ZNF195_uc009ydz.3_Silent_p.P560P|ZNF195_uc001lxu.3_Silent_p.P537P|ZNF195_uc001lxv.3_Silent_p.P582P|ZNF195_uc021qck.1_Silent_p.P537P|ZNF195_uc001lxs.3_Silent_p.P533P NM_001130520 NP_001123992 O14628 ZN195_HUMAN Homo sapiens zinc finger protein 195 (ZNF195), transcript variant 1, mRNA. 605 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(1) 17 Medulloblastoma(188;0.00106)|Breast(177;0.00328)|all_neural(188;0.00681)|Ovarian(85;0.00965) BRCA - Breast invasive adenocarcinoma(625;0.0361)|LUSC - Lung squamous cell carcinoma(625;0.2) CACACTTGTAGGGTTTCTCTC 0.363000 39 28 0 0 0.007291 0 0 FAM221B 392307 broad.mit.edu 37 9 35826156 35826156 + Missense_Mutation SNP C T T TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr9:35826156C>T uc010mlc.2 - 1 288 c.3G>A c.(1-3)atG>atA p.M1I FAM221B_uc003zyj.2_Non-coding_Transcript|FAM221B_uc011lpg.1_Missense_Mutation_p.M1I NM_001012446 NP_001012448 A6H8Z2 CI128_HUMAN Homo sapiens chromosome 9 open reading frame 128 (C9orf128), mRNA. 1 endometrium(2)|kidney(1)|lung(4) 7 CATGTGCTTCCATCTAGTGGT 0.507000 OREG0019180 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 48 24 0 0 0.003954 0 0 MORC3 23515 broad.mit.edu 37 21 37741392 37741392 + Missense_Mutation SNP G A A TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr21:37741392G>A uc002yvi.3 + 14 1802 c.1726G>A c.(1726-1728)Gat>Aat p.D576N NM_015358 NP_056173 Q14149 MORC3_HUMAN Homo sapiens MORC family CW-type zinc finger 3 (MORC3), mRNA. 576 cell aging|maintenance of protein location in nucleus|negative regulation of fibroblast proliferation|peptidyl-serine phosphorylation|protein stabilization PML body|aggresome|intermediate filament cytoskeleton ATP binding|zinc ion binding breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 35 TGATGATGAAGATGTCATCAT 0.383000 45 27 0 0 0.005443 0 0 ACOT12 134526 broad.mit.edu 37 5 80681586 80681586 + Missense_Mutation SNP C G G TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr5:80681586C>G uc003khl.4 - 1 242 c.187G>C c.(187-189)Gag>Cag p.E63Q RNU5E-1_uc011cto.1_Intron|ACOT12_uc003khm.3_Missense_Mutation_p.E63Q NM_130767 NP_570123 Q8WYK0 ACO12_HUMAN Homo sapiens acyl-CoA thioesterase 12 (ACOT12), mRNA. 63 Acyl coenzyme A hydrolase 1. acyl-CoA metabolic process|fatty acid metabolic process cytosol acetyl-CoA hydrolase activity|carboxylesterase activity cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2) 23 Lung NSC(167;0.0176)|all_lung(232;0.0205)|Ovarian(174;0.135) OV - Ovarian serous cystadenocarcinoma(54;1.37e-45)|Epithelial(54;1.25e-39)|all cancers(79;5.01e-34) CTAGCTGTCTCCTCAAACTGT 0.453000 19 15 0 0 0.003163 0 0 SLIT3 6586 broad.mit.edu 37 5 168093559 168093559 + Missense_Mutation SNP C T T rs140403495 TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr5:168093559C>T uc010jjg.3 - 35 4913 c.4493G>A c.(4492-4494)cGc>cAc p.R1498H SLIT3_uc003mab.3_Missense_Mutation_p.R1491H NM_003062 NP_003053 O75094 SLIT3_HUMAN Homo sapiens slit homolog 3 (Drosophila) (SLIT3), mRNA. 1491 CTCK. Roundabout signaling pathway|apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus extracellular space|mitochondrion Roundabout binding|calcium ion binding p.Y1497Y(1) endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) CCGCTTGCTGCGGGTGGGCTG 0.602000 31 16 0 0 0.004007 0 0 ADCY8 114 broad.mit.edu 37 8 131964221 131964221 + Silent SNP G A A TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr8:131964221G>A uc003ytd.4 - 2 1390 c.1134C>T c.(1132-1134)ctC>ctT p.L378L ADCY8_uc010mds.3_Silent_p.L378L NM_001115 NP_001106 P40145 ADCY8_HUMAN Homo sapiens adenylate cyclase 8 (brain) (ADCY8), mRNA. 378 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|membrane fraction|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2) 134 Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000538) CAAACCGGGGGAGCACAGAAA 0.542000 HNSCC(32;0.087) 61 17 0 0 0.006122 0 0 OLFM3 118427 broad.mit.edu 37 1 102269975 102269975 + Missense_Mutation SNP G A A TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr1:102269975G>A uc001duf.2 - 5 1327 c.1256C>T c.(1255-1257)tCc>tTc p.S419F OLFM3_uc001dug.2_Missense_Mutation_p.S399F|OLFM3_uc001duh.2_Non-coding_Transcript|OLFM3_uc001dui.2_Non-coding_Transcript|OLFM3_uc001duj.2_Missense_Mutation_p.S324F|OLFM3_uc001due.2_Non-coding_Transcript NM_058170 NP_477518 Q96PB7 NOE3_HUMAN Homo sapiens olfactomedin 3 (OLFM3), mRNA. 419 Olfactomedin-like. extracellular region breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(24)|ovary(3)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2) 43 all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189) all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145) GGTGGAATAGGAATAATACAC 0.448000 23 13 0 0 0.001855 0 0 TRRAP 8295 broad.mit.edu 37 7 98535299 98535299 + Silent SNP C T T TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr7:98535299C>T uc003upp.3 + 29 4469 c.4260C>T c.(4258-4260)gtC>gtT p.V1420V TRRAP_uc011kis.2_Silent_p.V1420V|TRRAP_uc003upr.3_Silent_p.V1112V NM_001244580 NP_001231509 Q9Y4A5 TRRAP_HUMAN Homo sapiens transformation/transcription domain-associated protein (TRRAP), transcript variant 1, mRNA. 1420 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) CCATAGAAGTCGATCAAATCC 0.408000 31 17 0 0 0.001523 0 0 SMO 6608 broad.mit.edu 37 7 128852240 128852240 + Missense_Mutation SNP C T T TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr7:128852240C>T uc003vor.3 + 11 2592 c.2312C>T c.(2311-2313)tCc>tTc p.S771F SMO_uc003vos.3_3'UTR NM_005631 NP_005622 Q99835 SMO_HUMAN Homo sapiens smoothened, frizzled family receptor (SMO), mRNA. 771 adenohypophysis development|axon extension involved in axon guidance|canonical Wnt receptor signaling pathway|cardioblast differentiation|central nervous system neuron differentiation|cerebellar cortex morphogenesis|ciliary receptor clustering involved in smoothened signaling pathway|determination of left/right symmetry|dorsal/ventral neural tube patterning|embryonic camera-type eye development|embryonic digestive tract morphogenesis|embryonic neurocranium morphogenesis|embryonic viscerocranium morphogenesis|exocrine pancreas development|facial nerve development|floor plate formation|gonad development|heart morphogenesis|muscle cell fate commitment|negative regulation of apoptosis|neural crest cell migration|neuron fate commitment|neuron projection regeneration|odontogenesis of dentine-containing tooth|osteoblast differentiation|otolith morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of neuroblast proliferation|positive regulation of smoothened signaling pathway|semicircular canal morphogenesis|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation|smoothened signaling pathway involved in ventral spinal cord patterning|spermatogenesis|vasculogenesis cilium|cytoplasm|integral to membrane|neuronal cell body|plasma membrane G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding biliary_tract(1)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(14)|liver(1)|lung(11)|pancreas(2)|prostate(1)|skin(20)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 CCTATTCACTCCCGCACCAAC 0.617000 Mis skin basal cell 49 52 0 0 0.003610 0 0 OR2M5 127059 broad.mit.edu 37 1 248309099 248309099 + Missense_Mutation SNP C T T TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr1:248309099C>T uc010pze.2 + 0 650 c.650C>T c.(649-651)tCc>tTc p.S217F NM_001004690 NP_001004690 A3KFT3 OR2M5_HUMAN Homo sapiens olfactory receptor, family 2, subfamily M, member 5 (OR2M5), mRNA. 217 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 49 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0388) ATCATCGCTTCCTATGCTCGA 0.423000 95 46 0 0 0.003214 0 0 CMYA5 202333 broad.mit.edu 37 5 79026206 79026206 + Missense_Mutation SNP C T T TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr5:79026206C>T uc003kgc.3 + 1 1690 c.1618C>T c.(1618-1620)Cca>Tca p.P540S NM_153610 NP_705838 Q8N3K9 CMYA5_HUMAN Homo sapiens cardiomyopathy associated 5 (CMYA5), mRNA. 540 Glu-rich. perinuclear region of cytoplasm NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1) 128 Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262) OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35) CCCAGAAAGCCCATTGGTTTC 0.428000 82 41 0 0 0.006230 0 0 MYCT1 80177 broad.mit.edu 37 6 153042964 153042964 + Missense_Mutation SNP G A A TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr6:153042964G>A uc003qpc.4 + 1 292 c.284G>A c.(283-285)cGa>cAa p.R95Q NM_025107 NP_079383 Q8N699 MYCT1_HUMAN Homo sapiens myc target 1 (MYCT1), mRNA. 95 nucleus p.R95G(1) NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 20 Ovarian(120;0.0654) OV - Ovarian serous cystadenocarcinoma(155;1.33e-10)|BRCA - Breast invasive adenocarcinoma(81;0.143) TGTCTGTCTCGAAGAAGAAGA 0.478000 46 34 0 0 0.003271 0 0 MERTK 10461 broad.mit.edu 37 2 112785979 112785979 + Silent SNP C T T TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr2:112785979C>T uc002thk.1 + 18 2660 c.2538C>T c.(2536-2538)acC>acT p.T846T MERTK_uc002thl.1_Silent_p.T670T NM_006343 NP_006334 Q12866 MERTK_HUMAN Homo sapiens c-mer proto-oncogene tyrosine kinase (MERTK), mRNA. 846 Protein kinase. cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration integral to plasma membrane|soluble fraction ATP binding|transmembrane receptor protein tyrosine kinase activity breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10) 46 ACCGCCCCACCTTTTCAGTAT 0.448000 21 35 0 0 0.002836 0 0 AKR1C2 1646 broad.mit.edu 37 10 5037948 5037948 + Splice_Site SNP C T T TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr10:5037948C>T uc001ihs.3 - 8 1093 c.680_splice c.e8+1 p.W227_splice AKR1C3_uc001ihr.3_Intron|AKR1C2_uc009xhy.3_Splice_Site_p.W201_splice|AKR1C2_uc001iht.3_Splice_Site_p.W227_splice NM_001354 NP_001345 P52895 AK1C2_HUMAN Homo sapiens aldo-keto reductase family 1, member C2 (dihydrodiol dehydrogenase 2; bile acid binding protein; 3-alpha hydroxysteroid dehydrogenase, type III) (AKR1C2), transcript variant 1, mRNA. 227 digestion|prostaglandin metabolic process|steroid metabolic process cytoplasm androsterone dehydrogenase (A-specific) activity|bile acid binding|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity breast(1)|large_intestine(5)|lung(3)|skin(1) 10 NADH(DB00157)|Ursodeoxycholic acid(DB01586) CTCTTATTACCATGGTTCTTC 0.403000 19 16 0 0 0.004990 0 0 EDC4 23644 broad.mit.edu 37 16 67915197 67915197 + Missense_Mutation SNP C T T TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr16:67915197C>T uc002eur.3 + 19 2905 c.2666C>T c.(2665-2667)gCc>gTc p.A889V EDC4_uc010cer.3_Missense_Mutation_p.A508V|EDC4_uc002eus.3_Missense_Mutation_p.A619V|EDC4_uc002eut.1_5'Flank NM_014329 NP_055144 Q6P2E9 EDC4_HUMAN Homo sapiens enhancer of mRNA decapping 4 (EDC4), mRNA. 889 exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay cytoplasmic mRNA processing body|cytosol|nucleus protein binding breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2) 41 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121) GCCAGCCTTGCCTCTGCTTCA 0.597000 71 42 0 0 0.001951 0 0 MUC16 94025 broad.mit.edu 37 19 9064386 9064386 + Missense_Mutation SNP G A A TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr19:9064386G>A uc002mkp.3 - 2 23264 c.23060C>T c.(23059-23061)cCa>cTa p.P7687L NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 7689 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 CGGGGAGGATGGAGGGCTGGT 0.552000 34 15 0 0 0.004990 0 0 HSD17B12 51144 broad.mit.edu 37 11 43702463 43702463 + Missense_Mutation SNP C T T TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr11:43702463C>T uc001mxq.4 + 0 321 c.86C>T c.(85-87)tCg>tTg p.S29L HSD17B12_uc001mxp.2_Non-coding_Transcript NM_016142 NP_057226 Q53GQ0 DHB12_HUMAN Homo sapiens hydroxysteroid (17-beta) dehydrogenase 12 (HSD17B12), mRNA. 29 long-chain fatty-acyl-CoA biosynthetic process|steroid biosynthetic process|triglyceride biosynthetic process endoplasmic reticulum membrane|integral to membrane estradiol 17-beta-dehydrogenase activity|long-chain-3-hydroxyacyl-CoA dehydrogenase activity endometrium(2)|large_intestine(4)|lung(4) 10 ATTTCGTACTCGCTCTTCACG 0.692000 41 19 0 0 0.006122 0 0 FAM55B 120406 broad.mit.edu 37 11 114569081 114569081 + Silent SNP C T T TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr11:114569081C>T uc009yyy.2 + 2 545 c.447C>T c.(445-447)ttC>ttT p.F149F NM_182495 NP_872301 Q96DL1 FA55B_HUMAN Homo sapiens family with sequence similarity 55, member B (FAM55B), mRNA. 149 integral to membrane breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|lung(6)|ovary(1) 14 GTGGGGATTTCCTGAGGGCCA 0.537000 5 7 0 0 0.001984 0 0 IGSF1 3547 broad.mit.edu 37 X 130409651 130409651 + Silent SNP G A A TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chrX:130409651G>A uc004ewe.4 - 15 3283 c.3000C>T c.(2998-3000)gtC>gtT p.V1000V IGSF1_uc004ewd.3_Silent_p.V995V|IGSF1_uc022cdv.1_Silent_p.V986V|IGSF1_uc004ewf.2_Silent_p.V975V NM_001170961 NP_001164432 Q8N6C5 IGSF1_HUMAN Homo sapiens immunoglobulin superfamily, member 1 (IGSF1), transcript variant 3, mRNA. 995 Ig-like C2-type 10. regulation of transcription, DNA-dependent extracellular region|integral to membrane inhibin beta-A binding|inhibin beta-B binding breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2) 78 CTACTCCATGGACCGGCCCTC 0.512000 15 40 0 0 0.001951 0 0 GJD4 219770 broad.mit.edu 37 10 35896519 35896519 + Silent SNP C T T TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr10:35896519C>T uc001iyy.1 + 1 236 c.78C>T c.(76-78)ttC>ttT p.F26F NM_153368 NP_699199 Q96KN9 CXD4_HUMAN Homo sapiens gap junction protein, delta 4, 40.1kDa (GJD4), mRNA. 26 cell communication connexon complex|integral to membrane central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 16 AGCTCTGGTTCGTCCTCACGA 0.572000 18 7 0 0 0.004482 0 0 PCLO 27445 broad.mit.edu 37 7 82579600 82579600 + Missense_Mutation SNP C T T TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr7:82579600C>T uc003uhx.2 - 5 10593 c.10304G>A c.(10303-10305)cGa>cAa p.R3435Q PCLO_uc003uhv.2_Missense_Mutation_p.R3435Q|PCLO_uc010lec.3_Missense_Mutation_p.R400Q NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA. 3366 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 TTTAAAACTTCGGGGATCATC 0.423000 42 40 0 0 0.006999 0 0 SEL1L3 23231 broad.mit.edu 37 4 25803972 25803972 + Missense_Mutation SNP G A A TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr4:25803972G>A uc003gru.4 - 10 2041 c.1889C>T c.(1888-1890)tCg>tTg p.S630L SEL1L3_uc003grv.3_Missense_Mutation_p.S37L NM_015187 NP_056002 Q68CR1 SE1L3_HUMAN Homo sapiens sel-1 suppressor of lin-12-like 3 (C. elegans) (SEL1L3), mRNA. 630 integral to membrane binding breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2) 14 GTAGGCATACGACAGTTCCCA 0.488000 20 19 0 0 0.002299 0 0 ACAA2 10449 broad.mit.edu 37 18 47317897 47317897 + Silent SNP G A A TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr18:47317897G>A uc002ldw.4 - 6 1223 c.826C>T c.(826-828)Ctg>Ttg p.L276L NM_006111 NP_006102 P42765 THIM_HUMAN Homo sapiens acetyl-CoA acyltransferase 2 (ACAA2), nuclear gene encoding mitochondrial protein, mRNA. 276 anti-apoptosis|cholesterol biosynthetic process acetyl-CoA C-acyltransferase activity|protein binding large_intestine(2)|lung(7)|ovary(1) 10 ATTCTTGCCAGTGGTGTGAAG 0.363000 39 19 0 0 0.002780 0 0 BC063132 0 broad.mit.edu 37 GL000241.1 22775 22775 + RNA SNP T A A TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chrGL000241.1:22775T>A uc011mgv.2 - 5 c.645A>T Homo sapiens cDNA clone IMAGE:4673444, containing frame-shift errors. TCCAATTGCATCTGAATGCCC 0.328000 40 4 0 0 0.000248 0 0 SIGLEC11 114132 broad.mit.edu 37 19 50464030 50464031 + Missense_Mutation DNP GG AT AT TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr19:50464030_50464031GG>AT uc010ybh.2 - 1 329_330 c.238_239CC>AT c.(238-240)cca>ATa p.P80I SIGLEC11_uc010ybi.2_Missense_Mutation_p.P80I NM_052884 NP_443116 Q96RL6 SIG11_HUMAN Homo sapiens sialic acid binding Ig-like lectin 11 (SIGLEC11), transcript variant 1, mRNA. 80 Ig-like V-type. cell adhesion integral to membrane sugar binding p.P68R(1) breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(6)|pancreas(1)|prostate(1)|skin(1) 32 all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17) GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517) ACCCGTCTTTGGGCTGGTCCGT 0.599000 29 16 0 0 0.004672 0 0 ABCC4 10257 broad.mit.edu 37 13 95830039 95830039 + Missense_Mutation SNP T C C TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr13:95830039T>C uc001vmd.4 - 12 1768 c.1649A>G c.(1648-1650)tAt>tGt p.Y550C ABCC4_uc010afk.3_Missense_Mutation_p.Y550C|ABCC4_uc001vme.2_Missense_Mutation_p.Y550C|ABCC4_uc010tih.1_Missense_Mutation_p.Y475C|ABCC4_uc001vmf.2_Missense_Mutation_p.Y507C|ABCC4_uc010afl.1_Missense_Mutation_p.Y507C|ABCC4_uc010afm.1_Missense_Mutation_p.Y563C NM_005845 NP_005836 O15439 MRP4_HUMAN Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 4 (ABCC4), transcript variant 1, mRNA. 550 ABC transporter 1. platelet activation|platelet degranulation integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane 15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1) 43 all_neural(89;0.0878)|Medulloblastoma(90;0.163) Cefazolin(DB01327) AGCATCTTGATACACTGCTCT 0.433000 34 14 0 0 0.006122 0 0 NPHP4 261734 broad.mit.edu 37 1 5950972 5950972 + Missense_Mutation SNP C T T TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr1:5950972C>T uc001alq.2 - 16 2528 c.2260G>A c.(2260-2262)Gga>Aga p.G754R NPHP4_uc001als.2_Non-coding_Transcript|NPHP4_uc009vlt.2_Non-coding_Transcript|NPHP4_uc001alt.2_Non-coding_Transcript|NPHP4_uc009vlu.2_Non-coding_Transcript NM_015102 NP_055917 O75161 NPHP4_HUMAN Homo sapiens nephronophthisis 4 (NPHP4), mRNA. 754 G -> R (in NPHP4; affects interaction with RPGRIP1L). actin cytoskeleton organization|cell-cell adhesion|signal transduction|visual behavior cell-cell junction|centrosome|cilium|microtubule basal body protein binding|structural molecule activity NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4) 47 Ovarian(185;0.0634) all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213) Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649) AGGGAGTCTCCGTCCCAGACG 0.637000 9 8 0 0 0.003080 0 0 INPP5E 56623 broad.mit.edu 37 9 139326424 139326424 + Silent SNP G A A TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr9:139326424G>A uc004cho.3 - 6 1786 c.1401C>T c.(1399-1401)acC>acT p.T467T INPP5E_uc010nbm.3_Silent_p.T466T NM_019892 NP_063945 Q9NRR6 INP5E_HUMAN Homo sapiens inositol polyphosphate-5-phosphatase, 72 kDa (INPP5E), mRNA. 467 Golgi cisterna membrane|cilium axoneme|cytoskeleton inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity NS(1)|endometrium(1)|lung(4)|skin(3) 9 Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;8.36e-06)|Epithelial(140;1.4e-05) CATCGAAGCGGGTGGTGACGT 0.657000 24 16 0 0 0.004007 0 0 ZRANB3 84083 broad.mit.edu 37 2 135988271 135988271 + Missense_Mutation SNP G A A TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr2:135988271G>A uc002tum.3 - 12 1883 c.1766C>T c.(1765-1767)cCg>cTg p.P589L ZRANB3_uc002tuk.3_Missense_Mutation_p.P132L|ZRANB3_uc002tul.3_Missense_Mutation_p.P589L NM_032143 NP_115519 Q5FWF4 ZRAB3_HUMAN Homo sapiens zinc finger, RAN-binding domain containing 3 (ZRANB3), mRNA. 589 intracellular ATP binding|DNA binding|endonuclease activity|helicase activity|zinc ion binding NS(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(1) 20 BRCA - Breast invasive adenocarcinoma(221;0.135) CTCTTCCGACGGACTGCAGTG 0.488000 66 41 0 0 0.007835 0 0 FRRS1 391059 broad.mit.edu 37 1 100195221 100195221 + Silent SNP A G G rs76965331 byFrequency TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr1:100195221A>G uc001dsh.1 - 7 1445 c.843T>C c.(841-843)ccT>ccC p.P281P NM_001013660 NP_001013682 Q6ZNA5 FRRS1_HUMAN Homo sapiens ferric-chelate reductase 1 (FRRS1), mRNA. 281 DOMON. electron transport chain|transport integral to membrane ferric-chelate reductase activity|metal ion binding breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(12)|pancreas(1)|skin(1)|urinary_tract(1) 26 all_epithelial(167;2.09e-06)|all_lung(203;0.000435)|Lung NSC(277;0.00201) Epithelial(280;0.0718)|all cancers(265;0.126)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.206) AGTCCATTACAGGGTGACTTC 0.493000 21 9 0 0 0.000673 0 0 TPD52L3 89882 broad.mit.edu 37 9 6328839 6328839 + Missense_Mutation SNP G A A TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr9:6328839G>A uc003zjw.3 + 0 491 c.244G>A c.(244-246)Gat>Aat p.D82N TPD52L3_uc003zjv.3_Missense_Mutation_p.D82N|TPD52L3_uc003zjx.2_Missense_Mutation_p.D82N NM_033516 NP_277051 Q96J77 TPD55_HUMAN Homo sapiens tumor protein D52-like 3 (TPD52L3), transcript variant 1, mRNA. 82 protein binding large_intestine(1)|lung(9)|skin(1) 11 Acute lymphoblastic leukemia(23;0.158) GBM - Glioblastoma multiforme(50;0.0198)|Lung(218;0.1) GAGCTGGCTTGATGTTCAGGT 0.532000 36 23 0 0 0.002299 0 0 MDN1 23195 broad.mit.edu 37 6 90405698 90405699 + Nonsense_Mutation DNP GG AA AA TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr6:90405698_90405699GG>AA uc003pnn.1 - 60 9512_9513 c.9396_9397CC>TT c.(9394-9399)tcccaa>tcTTaa p.Q3133* NM_014611 NP_055426 Q9NU22 MDN1_HUMAN Homo sapiens MDN1, midasin homolog (yeast) (MDN1), mRNA. 3133 protein complex assembly|regulation of protein complex assembly nucleus ATP binding|ATPase activity|unfolded protein binding NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 218 all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246) BRCA - Breast invasive adenocarcinoma(108;0.0193) CCCTGGAGTTGGGAATCCGTGC 0.510000 86 35 0 0 0.004672 0 0 RNF103 7844 broad.mit.edu 37 2 86831052 86831052 + Missense_Mutation SNP A C C TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr2:86831052A>C uc002srn.3 - 3 2963 c.1972T>G c.(1972-1974)Tgt>Ggt p.C658G RNF103_uc010ytl.2_Intron|RNF103_uc002srm.3_Missense_Mutation_p.C519G|RNF103_uc021vkg.1_Missense_Mutation_p.C654G|BC066991_uc002sro.3_5'Flank NM_005667 NP_005658 O00237 RN103_HUMAN Homo sapiens ring finger protein 103 (RNF103), transcript variant 1, mRNA. 658 ER-associated protein catabolic process|central nervous system development endoplasmic reticulum membrane|integral to membrane protein binding|ubiquitin-protein ligase activity|zinc ion binding central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(7)|skin(2) 25 ACAGGGCAACAATGTCGGCCC 0.448000 37 33 0 0 0.002096 0 0 DDIT3 1649 broad.mit.edu 37 12 57911062 57911062 + Missense_Mutation SNP C T T TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr12:57911062C>T uc009zpt.3 - 2 465 c.197G>A c.(196-198)gGa>gAa p.G66E MARS_uc001sof.1_Intron|DDIT3_uc001soi.3_Missense_Mutation_p.G43E|DDIT3_uc021qzj.1_Missense_Mutation_p.G43E|DDIT3_uc021qzk.1_Missense_Mutation_p.G66E|DDIT3_uc021qzl.1_Missense_Mutation_p.G66E|DDIT3_uc009zps.3_Missense_Mutation_p.G66E NM_001195053 NP_001181982 P35638 DDIT3_HUMAN Homo sapiens DNA-damage-inducible transcript 3 (DDIT3), transcript variant 1, mRNA. 43 cell cycle arrest|cell redox homeostasis|mRNA transcription from RNA polymerase II promoter|negative regulation of determination of dorsal identity|regulation of DNA-dependent transcription in response to stress|response to DNA damage stimulus nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription factor binding EWSR1/DDIT3(45)|FUS/DDIT3(631) central_nervous_system(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)|skin(1) 16 CTCTTCATTTCCAGGAGGTGA 0.468000 T FUS liposarcoma 26 19 0 0 0.006122 0 0 DAB2IP 153090 broad.mit.edu 37 9 124522287 124522287 + Missense_Mutation SNP G A A TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr9:124522287G>A uc004bln.3 + 5 724 c.655G>A c.(655-657)Ggc>Agc p.G219S DAB2IP_uc004blo.3_Missense_Mutation_p.G123S NM_032552 NP_115941 Q5VWQ8 DAB2P_HUMAN Homo sapiens DAB2 interacting protein (DAB2IP), transcript variant 1, mRNA. 247 C2. activation of JUN kinase activity|apoptosis in response to endoplasmic reticulum stress|cellular response to epidermal growth factor stimulus|cellular response to tumor necrosis factor|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of Ras GTPase activity|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter cytoplasm|intrinsic to internal side of plasma membrane 14-3-3 protein binding|Ras GTPase activator activity|death receptor binding|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity|protein phosphatase 2A binding|signaling adaptor activity breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(8)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 27 CCGCACCACGGGCAAGCTCAA 0.597000 16 17 0 0 0.007413 0 0 FBXL21 26223 broad.mit.edu 37 5 135277332 135277332 + RNA SNP G A A TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr5:135277332G>A uc021ydv.1 + 7 c.1759G>A FBXL21_uc003lbc.3_Intron|FBXL21_uc021ydx.1_Non-coding_Transcript NM_012159 Q9UKT6 FXL21_HUMAN Homo sapiens F-box and leucine-rich repeat protein 21 (gene/pseudogene) (FBXL21), mRNA. rhythmic process ubiquitin ligase complex ubiquitin-protein ligase activity large_intestine(5)|lung(4) 9 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) GGAAGAGTATGGTTCCCTGAT 0.393000 20 14 0 0 0.003163 0 0 OR52E6 390078 broad.mit.edu 37 11 5863035 5863035 + Silent SNP G A A TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr11:5863035G>A uc010qzq.2 - 0 93 c.93C>T c.(91-93)ttC>ttT p.F31F TRIM5_uc001mbq.1_Intron NM_001005167 NP_001005167 Q96RD3 O52E6_HUMAN Homo sapiens olfactory receptor, family 52, subfamily E, member 6 (OR52E6), mRNA. 31 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 27 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;2.55e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) AGAAAAAAGGGAATCCAATCC 0.458000 30 17 0 0 0.007413 0 0 CBWD5 220869 broad.mit.edu 37 9 70182053 70182053 + RNA SNP C T T TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr9:70182053C>T uc004afw.3 - 2 c.2059G>A Q5RIA9 CBWD5_HUMAN Homo sapiens COBW domain containing 5, mRNA (cDNA clone IMAGE:5287337), complete cds. ATP binding all cancers(8;0.00136)|Epithelial(8;0.0288)|GBM - Glioblastoma multiforme(74;0.0402)|OV - Ovarian serous cystadenocarcinoma(323;0.18) ATCCTTCCAGCTCACTGGAGT 0.408000 26 44 0 0 0.003610 0 0 CDH11 1009 broad.mit.edu 37 16 64984701 64984701 + Silent SNP G A A TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr16:64984701G>A uc002eoi.3 - 11 2297 c.1863C>T c.(1861-1863)atC>atT p.I621I CDH11_uc010cdn.3_Non-coding_Transcript|CDH11_uc002eoj.3_Silent_p.I621I|CDH11_uc010vin.2_Silent_p.I495I NM_001797 NP_001788 P55287 CAD11_HUMAN Homo sapiens cadherin 11, type 2, OB-cadherin (osteoblast) (CDH11), mRNA. 621 adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development integral to membrane|plasma membrane calcium ion binding|protein binding p.I621I(2) NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2) 88 Ovarian(137;0.0973) OV - Ovarian serous cystadenocarcinoma(108;0.205) CGAGGATGGCGATCAGGGCGC 0.622000 T USP6 aneurysmal bone cysts TSP Lung(24;0.17) 23 16 0 0 0.004990 0 0 IL17B 27190 broad.mit.edu 37 5 148753990 148753990 + Missense_Mutation SNP G A A TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr5:148753990G>A uc003lqo.3 - 2 535 c.485C>T c.(484-486)cCt>cTt p.P162L NM_014443 NP_055258 Q9UHF5 IL17B_HUMAN Homo sapiens interleukin 17B (IL17B), mRNA. 162 cell-cell signaling|immune response|inflammatory response extracellular space cytokine activity|signal transducer activity breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|prostate(1)|urinary_tract(1) 8 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTGGCGGCAAGGCCCTGTGCG 0.682000 47 26 0 0 0.005443 0 0 APC 324 broad.mit.edu 37 5 112174490 112174490 + Nonsense_Mutation SNP C T T rs137854571 TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr5:112174490C>T uc003kpz.4 + 16 3392 c.3199C>T c.(3199-3201)Caa>Taa p.Q1067* APC_uc011cvt.2_Nonsense_Mutation_p.Q1049*|APC_uc003kpy.4_Nonsense_Mutation_p.Q1067*|APC_uc010jbz.3_Nonsense_Mutation_p.Q784*|APC_uc010jca.3_Nonsense_Mutation_p.Q367* NM_001127510 NP_001120982 P25054 APC_HUMAN Homo sapiens adenomatous polyposis coli (APC), transcript variant 2, mRNA. 1067 Responsible for down-regulation through a process mediated by direct ubiquitination.|Ser-rich. canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|adherens junction|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity p.Q1067*(2)|p.?(1) NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20) 3261 all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133) OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191) TGAGCAAAGACAATCAAGGAA 0.388000 12 """D, Mis, N, F, S""" """colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS""" """colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS""" Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis TSP Lung(16;0.13) 16 11 0 0 0.000673 0 0 DPYD 1806 broad.mit.edu 37 1 98164978 98164978 + Silent SNP A T T TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr1:98164978A>T uc001drv.3 - 5 746 c.609T>A c.(607-609)gcT>gcA p.A203A DPYD_uc010oub.1_Non-coding_Transcript NM_000110 NP_000101 Q12882 DPYD_HUMAN Homo sapiens dihydropyrimidine dehydrogenase (DPYD), transcript variant 1, mRNA. 203 'de novo' pyrimidine base biosynthetic process|UMP biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|uracil catabolic process cytosol 4 iron, 4 sulfur cluster binding|NADP binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|protein homodimerization activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1) 83 all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994) Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216) Capecitabine(DB01101)|Enfuvirtide(DB00109) CCAAAAAGGAAGCACAACTTA 0.393000 37 14 0 0 0.002450 0 0 SLAIN2 57606 broad.mit.edu 37 4 48384831 48384831 + Missense_Mutation SNP G A A TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr4:48384831G>A uc003gya.4 + 4 1253 c.1109G>A c.(1108-1110)gGa>gAa p.G370E SLAIN2_uc003gyb.1_Missense_Mutation_p.G40E NM_020846 NP_065897 Q9P270 SLAI2_HUMAN Homo sapiens SLAIN motif family, member 2 (SLAIN2), mRNA. 370 centrosome breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(1) 13 CCTGCTCGGGGAATAGAATAT 0.493000 27 8 0 0 0.003080 0 0 EPPK1 83481 broad.mit.edu 37 8 144944110 144944110 + Silent SNP C T T TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr8:144944110C>T uc003zaa.1 - 0 3325 c.3312G>A c.(3310-3312)agG>agA p.R1104R NM_031308 NP_112598 P58107 EPIPL_HUMAN Homo sapiens epiplakin 1 (EPPK1), mRNA. 1104 cytoplasm|cytoskeleton protein binding|structural molecule activity NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) AAGTCTCATCCCTGGGGCACT 0.672000 34 7 0 0 0.003080 0 0 CDH16 1014 broad.mit.edu 37 16 66943179 66943179 + Missense_Mutation SNP C T T TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr16:66943179C>T uc002eql.3 - 16 2577 c.2383G>A c.(2383-2385)Gta>Ata p.V795I CDH16_uc010cdy.3_Missense_Mutation_p.V773I|CDH16_uc021tjx.1_Missense_Mutation_p.V756I|CDH16_uc002eqm.3_Missense_Mutation_p.V698I NM_004062 NP_004053 O75309 CAD16_HUMAN Homo sapiens cadherin 16, KSP-cadherin (CDH16), transcript variant 1, mRNA. 795 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 41 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203) CCTATTGCTACCAGGGTGCCT 0.602000 19 12 0 0 0.001368 0 0 HERC2 8924 broad.mit.edu 37 15 28544556 28544556 + Missense_Mutation SNP G A A TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr15:28544556G>A uc001zbj.3 - 2 285 c.179C>T c.(178-180)cCt>cTt p.P60L HERC2_uc001zbl.1_5'UTR NM_004667 NP_004658 O95714 HERC2_HUMAN Homo sapiens hect domain and RLD 2 (HERC2), mRNA. 60 DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4) 204 all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227) all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199) ACCTTTTCTAGGAGGGAGCTC 0.378000 55 30 0 0 0.001786 0 0 HECW1 23072 broad.mit.edu 37 7 43503334 43503335 + Missense_Mutation DNP CC TT TT TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr7:43503334_43503335CC>TT uc003tid.1 + 13 3332_3333 c.2727_2728CC>TT c.(2725-2730)gcccca>gcTTca p.P910S HECW1_uc011kbi.1_Missense_Mutation_p.P876S NM_015052 NP_055867 Q76N89 HECW1_HUMAN Homo sapiens HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 (HECW1), mRNA. 910 protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus ubiquitin-protein ligase activity NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3) 125 GCGAGCAAGCCCCAGCAGGAGG 0.525000 35 53 0 0 0.004672 0 0 PCDH20 64881 broad.mit.edu 37 13 61987196 61987196 + Missense_Mutation SNP C T T TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr13:61987196C>T uc001vid.4 - 1 1400 c.1036G>A c.(1036-1038)Gat>Aat p.D346N PCDH20_uc010thj.2_Missense_Mutation_p.D346N NM_022843 NP_073754 Q8N6Y1 PCD20_HUMAN Homo sapiens protocadherin 20 (PCDH20), mRNA. 319 Cadherin 3. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.L346L(1) breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 58 Breast(118;0.195)|Prostate(109;0.229) GBM - Glioblastoma multiforme(99;0.000118) AAGTCTTTATCCACAGCCTGG 0.428000 50 32 0 0 0.005524 0 0 MUC16 94025 broad.mit.edu 37 19 9058555 9058555 + Missense_Mutation SNP G A A TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr19:9058555G>A uc002mkp.3 - 2 29095 c.28891C>T c.(28891-28893)Cct>Tct p.P9631S NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 9633 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 GACTGAGCAGGGCCAGGAATG 0.507000 28 5 0 0 0.000602 0 0 BIRC6 57448 broad.mit.edu 37 2 32738066 32738066 + Silent SNP G A A TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr2:32738066G>A uc010ezu.3 + 53 10547 c.10413G>A c.(10411-10413)agG>agA p.R3471R NM_016252 NP_057336 Q9NR09 BIRC6_HUMAN Homo sapiens baculoviral IAP repeat containing 6 (BIRC6), mRNA. 3471 anti-apoptosis|apoptosis intracellular acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding p.A3470A(1) 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) GAAGTGGCAGGATGAACTACA 0.418000 59 32 0 0 0.004289 0 0 THSD7B 80731 broad.mit.edu 37 2 137990576 137990576 + Missense_Mutation SNP G A A TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr2:137990576G>A uc002tva.1 + 7 1930 c.1930G>A c.(1930-1932)Gag>Aag p.E644K THSD7B_uc010zbj.1_Intron|THSD7B_uc002tvb.3_Missense_Mutation_p.E534K NM_001080427 NP_001073896 Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA. p.C643C(1) NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 134 BRCA - Breast invasive adenocarcinoma(221;0.19) CCCTTGTTCTGAGGACACATT 0.522000 23 15 0 0 0.004990 0 0 SUPV3L1 6832 broad.mit.edu 37 10 70946256 70946256 + Missense_Mutation SNP C T T TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr10:70946256C>T uc001jpe.1 + 2 462 c.407C>T c.(406-408)tCc>tTc p.S136F SUPV3L1_uc010qjd.1_Missense_Mutation_p.S5F NM_003171 NP_003162 Q8IYB8 SUV3_HUMAN Homo sapiens suppressor of var1, 3-like 1 (S. cerevisiae) (SUPV3L1), mRNA. 136 DNA duplex unwinding mitochondrial nucleoid|nucleus ATP binding|DNA binding|DNA helicase activity|RNA binding NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 CAGTCTCATTCCCTGGATGTG 0.353000 57 23 0 0 0.005443 0 0 WDR52 55779 broad.mit.edu 37 3 113145080 113145080 + Missense_Mutation SNP C T T TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr3:113145080C>T uc003ead.2 - 3 365 c.298G>A c.(298-300)Gaa>Aaa p.E100K WDR52_uc003eae.2_Missense_Mutation_p.E100K NM_001164496 NP_001157968 Q96MT7 WDR52_HUMAN Homo sapiens WD repeat domain 52 (WDR52), transcript variant 1, mRNA. 100 breast(2)|central_nervous_system(3)|endometrium(3)|kidney(5)|large_intestine(7)|lung(26)|prostate(1)|urinary_tract(2) 49 TTCTTAACTTCCTCCTCTGCT 0.408000 33 32 0 0 0.001512 0 0 LDB1 8861 broad.mit.edu 37 10 103871230 103871230 + Missense_Mutation SNP G A A TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr10:103871230G>A uc009xwz.3 - 1 432 c.89C>T c.(88-90)cCc>cTc p.P30L LDB1_uc001kuk.4_5'UTR|LDB1_uc001kul.3_5'UTR NM_001113407 NP_003884 Q86U70 LDB1_HUMAN Homo sapiens LIM domain binding 1 (LDB1), transcript variant 1, mRNA. 30 histone H3-K4 acetylation|negative regulation of erythrocyte differentiation|negative regulation of transcription, DNA-dependent|positive regulation of hemoglobin biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription elongation, DNA-dependent|transcription, DNA-dependent|transcription-dependent tethering of RNA polymerase II gene DNA at nuclear periphery nuclear chromatin|protein complex LIM domain binding|protein homodimerization activity|transcription corepressor activity breast(1)|central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1) 21 Colorectal(252;0.122) Epithelial(162;1.11e-07)|all cancers(201;1.82e-06) ATGGAAGGGGGGAAAGGCGTT 0.572000 51 21 0 0 0.001882 0 0 PTPRF 5792 broad.mit.edu 37 1 44071073 44071073 + Silent SNP C T T TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr1:44071073C>T uc001cjr.3 + 17 3688 c.3348C>T c.(3346-3348)ttC>ttT p.F1116F PTPRF_uc001cjs.3_Silent_p.F1107F|PTPRF_uc001cju.3_Silent_p.F494F|PTPRF_uc009vwt.3_Silent_p.F676F|PTPRF_uc001cjv.3_Silent_p.F576F|PTPRF_uc001cjw.3_Silent_p.F342F NM_002840 NP_002831 P10586 PTPRF_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, F (PTPRF), transcript variant 1, mRNA. 1116 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) ACGGCCGCTTCGATCTCTCCA 0.662000 45 21 0 0 0.002299 0 0 MAP2K7 5609 broad.mit.edu 37 19 7975946 7975946 + Missense_Mutation SNP G A A TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr19:7975946G>A uc002mit.3 + 6 822 c.757G>A c.(757-759)Gag>Aag p.E253K MAP2K7_uc002miv.2_Missense_Mutation_p.E253K|MAP2K7_uc010xka.1_Non-coding_Transcript|MAP2K7_uc010dvv.3_Missense_Mutation_p.E128K|MAP2K7_uc010xkb.2_Missense_Mutation_p.E253K NM_145185 NP_660186 O14733 MP2K7_HUMAN Homo sapiens mitogen-activated protein kinase kinase 7 (MAP2K7), mRNA. 253 Protein kinase. MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|activation of JUN kinase activity|innate immune response|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleus ATP binding|JUN kinase kinase activity|magnesium ion binding|protein binding|protein kinase binding|protein phosphatase binding|protein serine/threonine kinase activity|protein tyrosine kinase activity breast(2)|central_nervous_system(3)|endometrium(1)|large_intestine(8)|lung(4)|ovary(1) 19 Etoposide(DB00773) CCTGCTGGACGAGCGGGGCCA 0.637000 29 23 0 0 0.002780 0 0 OBSCN 84033 broad.mit.edu 37 1 228558444 228558444 + Missense_Mutation SNP G A A TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr1:228558444G>A uc009xez.1 + 92 20275 c.20231G>A c.(20230-20232)cGa>cAa p.R6744Q OBSCN_uc001hsr.1_Missense_Mutation_p.R1373Q NM_001098623 NP_001092093 Q5VST9 OBSCN_HUMAN Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA. 6744 apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction M band|Z disc|cytosol ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|structural constituent of muscle|titin binding p.S6744fs*4(1) NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) CTCCTGGCCCGAAGTCGCTGG 0.632000 60 36 0 0 0.006230 0 0 CNBD1 168975 broad.mit.edu 37 8 88365893 88365893 + Silent SNP G A A TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr8:88365893G>A uc003ydy.2 + 9 1230 c.1182G>A c.(1180-1182)ggG>ggA p.G394G NM_173538 NP_775809 Q8NA66 CNBD1_HUMAN Homo sapiens cyclic nucleotide binding domain containing 1 (CNBD1), mRNA. 394 p.G394R(1) breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(4)|urinary_tract(1) 32 TTTATATGGGGAAACTTAAGG 0.323000 28 15 0 0 0.004990 0 0 USP32 84669 broad.mit.edu 37 17 58299810 58299810 + Missense_Mutation SNP A G G TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr17:58299810A>G uc002iyo.1 - 14 1995 c.1709T>C c.(1708-1710)cTt>cCt p.L570P USP32_uc002iyn.1_Missense_Mutation_p.L240P NM_032582 NP_115971 Q8NFA0 UBP32_HUMAN Homo sapiens ubiquitin specific peptidase 32 (USP32), mRNA. 570 DUSP. protein deubiquitination|ubiquitin-dependent protein catabolic process Golgi apparatus|membrane calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1) 62 all_neural(34;0.0878)|Medulloblastoma(34;0.0922) Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198) CCAGTGATAAAGTGCTCTCCA 0.433000 201 123 0 0 0.003610 0 0 VWA3B 200403 broad.mit.edu 37 2 98914472 98914472 + Missense_Mutation SNP C T T TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr2:98914472C>T uc002syo.3 + 23 3524 c.3260C>T c.(3259-3261)gCc>gTc p.A1087V VWA3B_uc002syn.1_Non-coding_Transcript|VWA3B_uc010yvi.1_Missense_Mutation_p.A744V|VWA3B_uc002syp.1_Missense_Mutation_p.A479V|VWA3B_uc002syq.1_Missense_Mutation_p.A363V|VWA3B_uc002syr.1_Missense_Mutation_p.A404V|VWA3B_uc002sys.3_Non-coding_Transcript NM_144992 NP_659429 Q502W6 VWA3B_HUMAN Homo sapiens von Willebrand factor A domain containing 3B (VWA3B), mRNA. 1087 p.A1087D(2) NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 70 GTGGGGGGCGCCATGCCCTGC 0.587000 83 28 0 0 0.006320 0 0 MYH3 4621 broad.mit.edu 37 17 10541369 10541369 + Silent SNP C T T TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr17:10541369C>T uc002gmq.2 - 26 3808 c.3720G>A c.(3718-3720)tcG>tcA p.S1240S NM_002470 NP_002461 P11055 MYH3_HUMAN Homo sapiens myosin, heavy chain 3, skeletal muscle, embryonic (MYH3), mRNA. 1240 muscle filament sliding|muscle organ development cytosol|myofibril|myosin filament ATP binding|actin binding|calmodulin binding|microfilament motor activity p.S1240S(2) breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 83 CCTTAGATTTCGACACACTCT 0.547000 57 32 0 0 0.002836 0 0 GPATCH3 63906 broad.mit.edu 37 1 27224143 27224143 + Silent SNP C T T TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr1:27224143C>T uc001bne.3 - 1 554 c.525G>A c.(523-525)ctG>ctA p.L175L BC016143_uc021ojq.1_Intron|GPATCH3_uc009vsp.2_5'UTR NM_022078 NP_071361 Q96I76 GPTC3_HUMAN Homo sapiens G patch domain containing 3 (GPATCH3), mRNA. 175 intracellular nucleic acid binding endometrium(2)|large_intestine(1)|lung(11)|skin(1) 15 all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.97e-51)|OV - Ovarian serous cystadenocarcinoma(117;9.55e-30)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|STAD - Stomach adenocarcinoma(196;0.000595)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|READ - Rectum adenocarcinoma(331;0.0419) TCAGGTCAGCCAGGGTGAAGG 0.567000 24 24 0 0 0.003330 0 0 PRUNE2 158471 broad.mit.edu 37 9 79320713 79320713 + Silent SNP T C C TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr9:79320713T>C uc010mpk.3 - 7 6601 c.6477A>G c.(6475-6477)gaA>gaG p.E2159E PRUNE2_uc004akj.4_5'Flank|PRUNE2_uc022big.1_5'Flank|PRUNE2_uc010mpl.1_5'Flank|PRUNE2_uc022bih.1_Silent_p.E1981E NM_015225 NP_056040 Q8WUY3 PRUN2_HUMAN Homo sapiens prune homolog 2 (Drosophila) (PRUNE2), mRNA. 2159 G1 phase|apoptosis|induction of apoptosis cytoplasm metal ion binding|pyrophosphatase activity endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1) 16 CAGAATCGAGTTCTGCATTGG 0.493000 71 44 0 0 0.002522 0 0 GPBP1 65056 broad.mit.edu 37 5 56557063 56557064 + Missense_Mutation DNP CC TT TT TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr5:56557063_56557064CC>TT uc003jrk.4 + 9 1295_1296 c.1238_1239CC>TT c.(1237-1239)ccc>cTT p.P413L GPBP1_uc003jrh.4_Missense_Mutation_p.P406L|GPBP1_uc003jri.4_Missense_Mutation_p.P235L|GPBP1_uc003jrj.4_Missense_Mutation_p.P398L|GPBP1_uc021xyv.1_Missense_Mutation_p.P235L NM_001127236 NP_001190175 Q86WP2 GPBP1_HUMAN Homo sapiens GC-rich promoter binding protein 1 (GPBP1), transcript variant 2, mRNA. 406 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|urinary_tract(1) 19 Lung NSC(810;0.000861)|Prostate(74;0.0305)|Breast(144;0.222) OV - Ovarian serous cystadenocarcinoma(10;7.64e-39) ACATGTGCTCCCTTAACTGAGG 0.356000 82 39 0 0 0.004672 0 0 PDE7B 27115 broad.mit.edu 37 6 136472385 136472385 + Missense_Mutation SNP G A A TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr6:136472385G>A uc003qgp.3 + 5 773 c.470G>A c.(469-471)cGa>cAa p.R157Q AJ606316_uc003qgq.1_Intron|PDE7B_uc003qgr.3_Missense_Mutation_p.R209Q NM_018945 NP_061818 Q9NP56 PDE7B_HUMAN Homo sapiens phosphodiesterase 7B (PDE7B), mRNA. 157 signal transduction|synaptic transmission cytosol 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding breast(1)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 21 Colorectal(23;0.24) OV - Ovarian serous cystadenocarcinoma(155;0.0136)|GBM - Glioblastoma multiforme(68;0.0147) Dyphylline(DB00651)|Ketotifen(DB00920) ACCTTACACCGATTTTTAGGT 0.383000 28 18 0 0 0.004990 0 0 ZNF812 729648 broad.mit.edu 37 19 9801162 9801162 + Silent SNP C T T TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr19:9801162C>T uc021uop.1 - 5 1663 c.1017G>A c.(1015-1017)ggG>ggA p.G339G ZNF812_uc010xkx.2_Silent_p.G235G NM_001199814 NP_001186743 P0C7V5 ZN812_HUMAN Homo sapiens zinc finger protein 812 (ZNF812), mRNA. 339 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 TGAAGGCTTTCCCACATTCCT 0.423000 22 31 0 0 0.002096 0 0 ING1 3621 broad.mit.edu 37 13 111368079 111368079 + Missense_Mutation SNP C T T TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr13:111368079C>T uc001vri.3 + 0 721 c.289C>T c.(289-291)Ccc>Tcc p.P97S CARS2_uc010tjm.1_5'Flank|DJ031140_uc001vre.3_5'Flank|ING1_uc001vrf.3_Intron|ING1_uc001vrg.3_Intron|ING1_uc001vrh.3_Intron NM_005537 NP_005528 Q9UK53 ING1_HUMAN Homo sapiens inhibitor of growth family, member 1 (ING1), transcript variant 4, mRNA. 97 cell cycle|negative regulation of cell growth|negative regulation of cell proliferation nucleus zinc ion binding endometrium(4)|large_intestine(6)|lung(1)|ovary(1) 12 all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148) BRCA - Breast invasive adenocarcinoma(86;0.188) ATCGGCGATTCCCATAGGCGG 0.706000 4 7 0 0 0.004482 0 0 PDZD4 57595 broad.mit.edu 37 X 153069993 153069993 + Silent SNP G A A TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chrX:153069993G>A uc004fja.1 - 7 1393 c.1143C>T c.(1141-1143)ctC>ctT p.L381L PDZD4_uc004fiy.1_Silent_p.L300L|PDZD4_uc004fiz.1_Silent_p.L375L|PDZD4_uc004fix.2_Silent_p.L279L|PDZD4_uc011mze.1_Silent_p.L266L|PDZD4_uc022chy.1_5'Flank NM_032512 NP_115901 Q76G19 PDZD4_HUMAN Homo sapiens PDZ domain containing 4 (PDZD4), mRNA. 375 cell cortex breast(3)|cervix(1)|endometrium(5)|lung(13)|skin(1) 23 all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05) GGGGAAAGAGGAGGCCCAGCT 0.662000 7 26 0 0 0.006320 0 0 CHAF1B 8208 broad.mit.edu 37 21 37785272 37785272 + Silent SNP G A A TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr21:37785272G>A uc002yvj.3 + 11 1290 c.1152G>A c.(1150-1152)ttG>ttA p.L384L NM_005441 NP_005432 Q13112 CAF1B_HUMAN Homo sapiens chromatin assembly factor 1, subunit B (p60) (CHAF1B), mRNA. 384 DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|cell cycle|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent CAF-1 complex|cytoplasm chromatin binding|histone binding|unfolded protein binding p.P383H(1) breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(2) 20 GAATTCCTTTGAAAGAGAAGC 0.493000 41 26 0 0 0.003954 0 0 ITGB8 3696 broad.mit.edu 37 7 20371473 20371473 + Missense_Mutation SNP G A A TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr7:20371473G>A uc003suu.3 + 0 749 c.44G>A c.(43-45)tGc>tAc p.C15Y ITGB8_uc011jyh.2_Intron|ITGB8_uc003sut.3_Missense_Mutation_p.C15Y NM_002214 NP_002205 P26012 ITB8_HUMAN Homo sapiens integrin, beta 8 (ITGB8), mRNA. 15 cell-matrix adhesion|integrin-mediated signaling pathway|placenta blood vessel development integrin complex protein binding|receptor activity NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(4)|stomach(2)|urinary_tract(1) 37 GCATTTGTCTGCCTGCAAAAC 0.602000 21 18 0 0 0.001216 0 0 TGM4 7047 broad.mit.edu 37 3 44926890 44926890 + Silent SNP G A A rs143152961 TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr3:44926890G>A uc003coc.4 + 1 166 c.93G>A c.(91-93)acG>acA p.T31T TGM4_uc003coa.2_Silent_p.T31T|TGM4_uc003cob.2_Non-coding_Transcript NM_003241 NP_003232 P49221 TGM4_HUMAN Homo sapiens transglutaminase 4 (prostate) (TGM4), mRNA. 31 peptide cross-linking|protein polyamination acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity NS(1)|breast(1)|endometrium(2)|large_intestine(9)|lung(21)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1) 38 BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686) L-Glutamine(DB00130) AGTTCCAAACGAGCAGTCCTG 0.527000 24 8 0 0 0.003080 0 0 HRNR 388697 broad.mit.edu 37 1 152191011 152191011 + Missense_Mutation SNP C T T TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr1:152191011C>T uc001ezt.1 - 2 3170 c.3094G>A c.(3094-3096)Ggg>Agg p.G1032R NM_001009931 NP_001009931 Q86YZ3 HORN_HUMAN Homo sapiens hornerin (HRNR), mRNA. 1032 keratinization calcium ion binding|protein binding autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6) 192 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GAAGACCACCCTGAGCCAGAC 0.597000 131 69 0 0 0.003610 0 0 KIAA0319 9856 broad.mit.edu 37 6 24563733 24563733 + Missense_Mutation SNP A C C TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr6:24563733A>C uc011djo.2 - 15 2945 c.2445T>G c.(2443-2445)agT>agG p.S815R KIAA0319_uc011djp.2_Missense_Mutation_p.S770R|KIAA0319_uc003neh.1_Missense_Mutation_p.S815R|KIAA0319_uc011djq.1_Missense_Mutation_p.S806R|KIAA0319_uc011djr.1_Missense_Mutation_p.S815R|KIAA0319_uc010jpt.1_Missense_Mutation_p.S226R NM_001168375 NP_001161848 Q5VV43 K0319_HUMAN Homo sapiens KIAA0319 (KIAA0319), transcript variant 2, mRNA. 815 negative regulation of dendrite development|neuron migration early endosome membrane|integral to membrane|plasma membrane protein binding breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1) 53 CCACCAGGCCACTCTTCCTAG 0.547000 20 10 0 0 0.000673 0 0 VNN1 8876 broad.mit.edu 37 6 133013556 133013556 + Missense_Mutation SNP C T T TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr6:133013556C>T uc003qdo.3 - 4 1014 c.994G>A c.(994-996)Gaa>Aaa p.E332K NM_004666 NP_004657 O95497 VNN1_HUMAN Homo sapiens vanin 1 (VNN1), mRNA. 332 acute inflammatory response|anti-apoptosis|cell-cell adhesion|cellular component movement|chronic inflammatory response|innate immune response|pantothenate metabolic process|positive regulation of T cell differentiation in thymus|response to oxidative stress anchored to membrane|integral to membrane|plasma membrane GPI anchor binding|pantetheine hydrolase activity NS(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1) 31 Breast(56;0.135) OV - Ovarian serous cystadenocarcinoma(155;0.0027)|GBM - Glioblastoma multiforme(226;0.0189) CCTTTAAATTCCTTGTTTCCT 0.443000 26 8 0 0 0.003080 0 0 ZNF749 388567 broad.mit.edu 37 19 57956849 57956849 + Missense_Mutation SNP C T T TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr19:57956849C>T uc002qoq.2 + 2 2587 c.2333C>T c.(2332-2334)cCt>cTt p.P778L NM_001023561 NP_001018855 O43361 ZN749_HUMAN Homo sapiens zinc finger protein 749 (ZNF749), mRNA. 778 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(6)|kidney(2)|lung(3)|prostate(1) 13 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)|Lung(386;0.177) GGAAAAAGGCCTTAGTGGAGT 0.388000 60 18 0 0 0.001216 0 0 MAT2A 4144 broad.mit.edu 37 2 85770792 85770792 + Splice_Site SNP G A A TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr2:85770792G>A uc002spr.3 + 9 1396 c.1086_splice c.e9-1 p.R362_splice NM_005911 NP_005902 P31153 METK2_HUMAN Homo sapiens methionine adenosyltransferase II, alpha (MAT2A), mRNA. 362 methylation|xenobiotic metabolic process cytosol ATP binding|metal ion binding|methionine adenosyltransferase activity breast(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 9 L-Methionine(DB00134)|S-Adenosylmethionine(DB00118) GTATATTCCAGGGATCTGGAT 0.398000 27 14 0 0 0.002450 0 0 PCSK5 5125 broad.mit.edu 37 9 78547381 78547381 + Silent SNP C T T TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr9:78547381C>T uc004akc.2 + 1 817 c.279C>T c.(277-279)ttC>ttT p.F93F PCSK5_uc004ajy.2_Silent_p.F93F|PCSK5_uc004ajz.3_Silent_p.F93F|PCSK5_uc004aka.3_Non-coding_Transcript NM_001190482 NP_001177411 Q92824 PCSK5_HUMAN Homo sapiens proprotein convertase subtilisin/kexin type 5 (PCSK5), transcript variant 1, mRNA. 93 anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release Golgi lumen|extracellular space|stored secretory granule peptide binding|serine-type endopeptidase activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 55 CCCACAGTTTCATTTCAATGG 0.478000 26 20 0 0 0.001882 0 0 THSD7B 80731 broad.mit.edu 37 2 138208522 138208522 + Nonsense_Mutation SNP C T T TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr2:138208522C>T uc002tva.1 + 13 2974 c.2974C>T c.(2974-2976)Cga>Tga p.R992* THSD7B_uc010zbj.1_Intron NM_001080427 NP_001073896 Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA. p.R1023*(1) NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 134 BRCA - Breast invasive adenocarcinoma(221;0.19) AGTGAGAATTCGATCCAAATG 0.408000 19 12 0 0 0.001855 0 0 SCN7A 6332 broad.mit.edu 37 2 167289231 167289231 + Missense_Mutation SNP G A A TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr2:167289231G>A uc002udu.2 - 14 2319 c.2189C>T c.(2188-2190)tCa>tTa p.S730L SCN7A_uc010fpm.2_Non-coding_Transcript NM_002976 NP_002967 Q01118 SCN7A_HUMAN Homo sapiens sodium channel, voltage-gated, type VII, alpha (SCN7A), transcript variant 1, mRNA. 730 muscle contraction voltage-gated sodium channel complex voltage-gated sodium channel activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1) 44 TGAACTAAATGAGCTCACCAA 0.328000 11 3 0 0 0.004672 0 0 GTF2F1 2962 broad.mit.edu 37 19 6381742 6381742 + Missense_Mutation SNP C T T TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr19:6381742C>T uc002meq.2 - 6 1087 c.802G>A c.(802-804)Ggc>Agc p.G268S GTF2F1_uc010xjb.1_Missense_Mutation_p.G89S|GTF2F1_uc010xjc.1_Missense_Mutation_p.G183S NM_002096 NP_002087 P35269 T2FA_HUMAN Homo sapiens general transcription factor IIF, polypeptide 1, 74kDa (GTF2F1), mRNA. 268 mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|response to virus|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction cell junction|transcription factor TFIIF complex DNA binding|catalytic activity|phosphatase activator activity|transcription coactivator activity|transcription factor binding breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(4) 16 ACCTCTTGGCCCTCGAAGTCC 0.632000 32 22 0 0 0.001882 0 0 SORL1 6653 broad.mit.edu 37 11 121384924 121384924 + Missense_Mutation SNP C T T TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr11:121384924C>T uc001pxx.3 + 7 1234 c.1105C>T c.(1105-1107)Cgc>Tgc p.R369C NM_003105 NP_003096 Q92673 SORL_HUMAN Homo sapiens sortilin-related receptor, L(DLR class) A repeats containing (SORL1), mRNA. 369 cholesterol metabolic process|lipid transport|receptor-mediated endocytosis integral to plasma membrane|low-density lipoprotein particle low-density lipoprotein particle binding|transmembrane receptor activity NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2) 91 Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113) BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108) CAGTAACAACCGCACCAATTT 0.483000 39 12 0 0 0.002450 0 0 DRD2 1813 broad.mit.edu 37 11 113283578 113283578 + Missense_Mutation SNP C T T TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr11:113283578C>T uc001pnz.3 - 5 1159 c.838G>A c.(838-840)Gag>Aag p.E280K DRD2_uc010rwv.2_Missense_Mutation_p.E279K|DRD2_uc001poa.4_Missense_Mutation_p.E280K|DRD2_uc001pob.4_Missense_Mutation_p.E251K NM_000795 NP_000786 P14416 DRD2_HUMAN Homo sapiens dopamine receptor D2 (DRD2), transcript variant 1, mRNA. 280 Interaction with PPP1R9B (By similarity). activation of phospholipase C activity by dopamine receptor signaling pathway|adenohypophysis development|adult walking behavior|arachidonic acid secretion|axonogenesis|behavioral response to cocaine|behavioral response to ethanol|branching morphogenesis of a nerve|cerebral cortex GABAergic interneuron migration|circadian regulation of gene expression|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|intracellular protein kinase cascade|negative regulation of blood pressure|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of dopamine receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|negative regulation of synaptic transmission, glutamatergic|neurological system process involved in regulation of systemic arterial blood pressure|peristalsis|phosphatidylinositol metabolic process|positive regulation of dopamine uptake|positive regulation of growth hormone secretion|positive regulation of neuroblast proliferation|prepulse inhibition|protein localization|regulation of heart rate|regulation of long-term neuronal synaptic plasticity|regulation of potassium ion transport|regulation of sodium ion transport|regulation of synaptic transmission, GABAergic|release of sequestered calcium ion into cytosol|response to amphetamine|response to drug|response to histamine|response to morphine|sensory perception of smell|synapse assembly|temperature homeostasis|visual learning integral to plasma membrane dopamine D2 receptor activity|dopamine receptor activity, coupled via Gi/Go|drug binding|potassium channel regulator activity|protein binding endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(18)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 39 all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494) BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216) Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Carphenazine(DB01038)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Domperidone(DB01184)|Droperidol(DB00450)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Mesoridazine(DB00933)|Metoclopramide(DB01233)|Minaprine(DB00805)|Molindone(DB01618)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Sulpiride(DB00391)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Ziprasidone(DB00246)|Zuclopenthixol(DB01624) ATCTCCATCTCCAGCTCCTGG 0.672000 35 21 0 0 0.001523 0 0 BNC1 646 broad.mit.edu 37 15 83926322 83926322 + Missense_Mutation SNP G A A rs138921537 TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr15:83926322G>A uc002bjt.1 - 4 2945 c.2857C>T c.(2857-2859)Cgg>Tgg p.R953W BNC1_uc010uos.1_Missense_Mutation_p.R941W NM_001717 NP_001708 Q01954 BNC1_HUMAN Homo sapiens basonuclin 1 (BNC1), mRNA. 953 epidermis development|positive regulation of cell proliferation cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1) 56 TGGAGCTGCCGGAGGTGCACA 0.507000 81 54 0 0 0.003610 0 0 CHD1 1105 broad.mit.edu 37 5 98206457 98206457 + Silent SNP G A A TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr5:98206457G>A uc003knf.3 - 27 4060 c.3912C>T c.(3910-3912)acC>acT p.T1304T CHD1_uc010jbn.3_Silent_p.T30T NM_001270 NP_001261 O14646 CHD1_HUMAN Homo sapiens chromodomain helicase DNA binding protein 1 (CHD1), mRNA. 1304 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding|methylated histone residue binding NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2) 49 all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117) COAD - Colon adenocarcinoma(37;0.0717) Epirubicin(DB00445) AGTCTGCACGGGTCTGCAACT 0.363000 43 28 0 0 0.006320 0 0 MXRA5 25878 broad.mit.edu 37 X 3261761 3261761 + Silent SNP C T T TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chrX:3261761C>T uc004crg.4 - 1 271 c.114G>A c.(112-114)gaG>gaA p.E38E NM_015419 NP_056234 Q9NR99 MXRA5_HUMAN Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA. 38 LRRNT. 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) TGCAGTGGACCTCGCTGGGGA 0.617000 6 9 0 0 0.000673 0 0 SOS2 6655 broad.mit.edu 37 14 50587031 50587031 + Missense_Mutation SNP G A A TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr14:50587031G>A uc001wxs.4 - 21 3549 c.3451C>T c.(3451-3453)Cct>Tct p.P1151S SOS2_uc010ans.3_5'UTR|SOS2_uc010tql.2_Missense_Mutation_p.P1118S NM_006939 NP_008870 Q07890 SOS2_HUMAN Homo sapiens son of sevenless homolog 2 (Drosophila) (SOS2), mRNA. 1151 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 DNA binding|Rho guanyl-nucleotide exchange factor activity|protein binding cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(16)|ovary(2)|skin(1) 39 all_epithelial(31;0.000822)|Breast(41;0.0065) TTTTTTCGAGGAGGAAGAGGA 0.378000 21 13 0 0 0.002450 0 0 ABCA3 21 broad.mit.edu 37 16 2374517 2374517 + Missense_Mutation SNP G A A TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr16:2374517G>A uc002cpy.1 - 5 1047 c.335C>T c.(334-336)tCc>tTc p.S112F ABCA3_uc010bsk.1_Missense_Mutation_p.S112F|ABCA3_uc010bsl.1_Missense_Mutation_p.S112F|ABCA3_uc002cpz.1_Missense_Mutation_p.S112F NM_001089 NP_001080 Q99758 ABCA3_HUMAN Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 3 (ABCA3), mRNA. 112 response to drug integral to membrane|lamellar body|membrane fraction|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1) 70 Ovarian(90;0.17) GTCCTTCTCGGAGGGAAAGCC 0.587000 20 13 0 0 0.002450 0 0 EML4 27436 broad.mit.edu 37 2 42543128 42543128 + Missense_Mutation SNP G A A TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr2:42543128G>A uc002rsi.3 + 17 2256 c.1994G>A c.(1993-1995)aGa>aAa p.R665K EML4_uc010fap.3_Missense_Mutation_p.R607K|EML4_uc002rsj.3_Missense_Mutation_p.R354K|EML4_uc010faq.3_Missense_Mutation_p.R10K|EML4_uc010ynv.2_Intron NM_019063 NP_061936 Q9HC35 EMAL4_HUMAN Homo sapiens echinoderm microtubule associated protein like 4 (EML4), transcript variant 1, mRNA. 665 microtubule-based process|mitosis cytoplasm|microtubule protein binding EML4/ALK(543) NS(2)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 12 GCAGAAACCAGAGATCTAGTT 0.373000 T ALK NSCLC 56 25 0 0 0.005443 0 0 TMPRSS15 5651 broad.mit.edu 37 21 19685262 19685262 + Splice_Site SNP C T T TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr21:19685262C>T uc002ykw.3 - 18 2196 c.2165_splice c.e18+1 p.G722_splice NM_002772 NP_002763 P98073 ENTK_HUMAN Homo sapiens transmembrane protease, serine 15 (TMPRSS15), mRNA. 722 SRCR. proteolysis brush border|integral to membrane scavenger receptor activity|serine-type endopeptidase activity NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 85 AATTACTTACCCTAGTCCCAG 0.353000 47 19 0 0 0.006122 0 0 VCAN 1462 broad.mit.edu 37 5 82816889 82816889 + Missense_Mutation SNP G A A TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr5:82816889G>A uc003kii.3 + 6 3120 c.2764G>A c.(2764-2766)Gga>Aga p.G922R VCAN_uc003kij.3_Intron|VCAN_uc010jau.2_Missense_Mutation_p.G922R|VCAN_uc003kik.3_Intron NM_004385 NP_004376 P13611 CSPG2_HUMAN Homo sapiens versican (VCAN), transcript variant 1, mRNA. 922 GAG-alpha (glucosaminoglycan attachment domain). cell adhesion|cell recognition|glial cell migration extracellular space|proteinaceous extracellular matrix calcium ion binding|hyaluronic acid binding|sugar binding NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 190 Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142) OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29) AACCATGGAAGGAAGTGCTTT 0.423000 61 26 0 0 0.006320 0 0 XIRP2 129446 broad.mit.edu 37 2 168106586 168106586 + Missense_Mutation SNP A C C TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr2:168106586A>C uc002udx.3 + 8 8773 c.8684A>C c.(8683-8685)gAa>gCa p.E2895A XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Missense_Mutation_p.E2720A|XIRP2_uc010fpq.3_Missense_Mutation_p.E2673A|XIRP2_uc010fpr.3_Intron NM_152381 NP_689594 A4UGR9 XIRP2_HUMAN Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA. 2720 actin cytoskeleton organization cell junction actin binding NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 AGTCTGCAGGAAGAAAAATGT 0.363000 16 14 0 0 0.002450 0 0 VSX2 338917 broad.mit.edu 37 14 74727431 74727431 + Missense_Mutation SNP G A A TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr14:74727431G>A uc001xpq.3 + 4 985 c.895G>A c.(895-897)Gag>Aag p.E299K NM_182894 NP_878314 P58304 VSX2_HUMAN Homo sapiens visual system homeobox 2 (VSX2), mRNA. 299 multicellular organismal development|response to stimulus|visual perception nucleolus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 7 BRCA - Breast invasive adenocarcinoma(234;0.00154) CATCTCCCAGGAGGAACTGAG 0.682000 10 6 0 0 0.001984 0 0 FMN2 56776 broad.mit.edu 37 1 240370231 240370231 + Missense_Mutation SNP G A A TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr1:240370231G>A uc010pye.2 + 5 2356 c.2131G>A c.(2131-2133)Ggt>Agt p.G711S FMN2_uc010pyd.2_Missense_Mutation_p.G707S NM_020066 NP_064450 Q9NZ56 FMN2_HUMAN Homo sapiens formin 2 (FMN2), mRNA. 707 actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions actin binding p.G850C(1) NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2) 178 Ovarian(103;0.127) all_cancers(173;0.013) OV - Ovarian serous cystadenocarcinoma(106;0.0106) GGTGGCCAGTGGTCATCAAGG 0.483000 35 16 0 0 0.006122 0 0 KRT2 3849 broad.mit.edu 37 12 53041570 53041570 + Missense_Mutation SNP C T T TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr12:53041570C>T uc001sat.3 - 5 1225 c.1192G>A c.(1192-1194)Gag>Aag p.E398K NM_000423 NP_000414 P35908 K22E_HUMAN Homo sapiens keratin 2 (KRT2), mRNA. 398 Coil 2.|Rod. keratinization|keratinocyte activation|keratinocyte migration|keratinocyte proliferation Golgi apparatus|keratin filament protein binding|structural constituent of cytoskeleton endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(18)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 32 BRCA - Breast invasive adenocarcinoma(357;0.19) CGGTTCAGCTCGCTGATCTCT 0.572000 30 11 0 0 0.000978 0 0 IP6K3 117283 broad.mit.edu 37 6 33693340 33693340 + Missense_Mutation SNP C T T TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr6:33693340C>T uc010jvf.2 - 5 1179 c.643G>A c.(643-645)Gat>Aat p.D215N IP6K3_uc003ofb.2_Missense_Mutation_p.D215N NM_001142883 NP_473452 Q96PC2 IP6K3_HUMAN Homo sapiens inositol hexakisphosphate kinase 3 (IP6K3), transcript variant 2, mRNA. 215 Substrate binding (By similarity). inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|protein phosphorylation cytoplasm ATP binding|inositol hexakisphosphate 5-kinase activity|inositol hexakisphosphate 6-kinase activity|inositol trisphosphate 3-kinase activity skin(1) 1 ATCTTCAGATCCAGGACACAG 0.557000 29 24 0 0 0.003330 0 0 CX3CR1 1524 broad.mit.edu 37 3 39307928 39307928 + Missense_Mutation SNP C T T TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr3:39307928C>T uc021wwc.1 - 1 209 c.169G>A c.(169-171)Gac>Aac p.D57N CX3CR1_uc021wwa.1_Missense_Mutation_p.D25N|CX3CR1_uc021wwb.1_Missense_Mutation_p.D25N|CX3CR1_uc003cjl.3_Missense_Mutation_p.D25N|CX3CR1_uc021wwd.1_Missense_Mutation_p.D25N NM_001171174 NP_001164645 P49238 CX3C1_HUMAN Homo sapiens chemokine (C-X3-C motif) receptor 1 (CX3CR1), transcript variant 1, mRNA. 25 T -> A. cell adhesion|cellular defense response|chemotaxis|interspecies interaction between organisms|response to wounding integral to plasma membrane chemokine receptor activity endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1) 24 KIRC - Kidney renal clear cell carcinoma(284;0.0557)|Kidney(284;0.0699) ACCACGATGTCCCCAATATAA 0.463000 32 21 0 0 0.001882 0 0 NCAPH2 29781 broad.mit.edu 37 22 50956401 50956401 + Splice_Site SNP G A A TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr22:50956401G>A uc003blx.4 + 6 543 c.421_splice c.e6-1 p.E141_splice NCAPH2_uc003blq.4_Splice_Site_p.E141_splice|NCAPH2_uc003blv.3_Splice_Site_p.E141_splice|NCAPH2_uc003blr.4_Splice_Site_p.E141_splice NM_001185011 NP_001171940 Q6IBW4 CNDH2_HUMAN Homo sapiens non-SMC condensin II complex, subunit H2 (NCAPH2), transcript variant 3, mRNA. 141 chromosome condensation chromosome|nucleus breast(1)|cervix(1)|endometrium(2)|kidney(3)|lung(10)|ovary(1)|prostate(2)|skin(3)|stomach(1) 24 all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.212) CCTCCATGCAGGAGGTCCTCA 0.602000 46 25 0 0 0.003954 0 0 EHMT2 10919 broad.mit.edu 37 6 31848611 31848611 + Silent SNP G A A TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr6:31848611G>A uc003nxz.1 - 26 3301 c.3291C>T c.(3289-3291)taC>taT p.Y1097Y EHMT2_uc003nxx.1_Silent_p.Y295Y|EHMT2_uc003nxy.1_Silent_p.Y895Y|EHMT2_uc011don.1_Silent_p.Y1120Y|EHMT2_uc003nya.1_Silent_p.Y1063Y|SLC44A4_uc010jti.3_5'Flank|SLC44A4_uc011dom.2_5'Flank NM_006709 NP_006700 Q96KQ7 EHMT2_HUMAN Homo sapiens euchromatic histone-lysine N-methyltransferase 2 (EHMT2), transcript variant NG36/G9a, mRNA. 1097 SET. DNA methylation|peptidyl-lysine dimethylation chromosome|nucleus histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1) 21 CATCTATGCAGTACACCTCTC 0.602000 330 176 0 0 0.003610 0 0 SSPO 23145 broad.mit.edu 37 7 149500864 149500864 + Missense_Mutation SNP G A A TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr7:149500864G>A uc010lpk.3 + 54 8173 c.8173G>A c.(8173-8175)Gac>Aac p.D2725N NM_198455 NP_940857 A2VEC9 SSPO_HUMAN Homo sapiens SCO-spondin homolog (Bos taurus) (SSPO), mRNA. 2728 TSP type-1 6. cell adhesion extracellular space peptidase inhibitor activity Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) GGCTCCCTGCGACCGCTCCTG 0.697000 16 7 0 0 0.001984 0 0 MAN2C1 4123 broad.mit.edu 37 15 75650637 75650637 + Missense_Mutation SNP G A A TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr15:75650637G>A uc002bah.3 - 20 2520 c.2503C>T c.(2503-2505)Cgc>Tgc p.R835C MAN2C1_uc010bkk.3_Missense_Mutation_p.R719C|MAN2C1_uc002baf.3_Missense_Mutation_p.R818C|MAN2C1_uc002bag.3_Missense_Mutation_p.R818C Q9NTJ4 MA2C1_HUMAN Homo sapiens mannosidase, alpha, class 2C, member 1 (MAN2C1), mRNA. 818 mannose metabolic process alpha-mannosidase activity|carbohydrate binding|protein binding|zinc ion binding central_nervous_system(4)|endometrium(4)|kidney(6)|large_intestine(6)|lung(20)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2) 44 CTCCGCACGCGAGCAGGGAAC 0.587000 60 24 0 0 0.004656 0 0 EXOC3L4 91828 broad.mit.edu 37 14 103568724 103568724 + Missense_Mutation SNP G A A TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr14:103568724G>A uc001ymk.3 + 1 740 c.664G>A c.(664-666)Gag>Aag p.E222K NM_001077594 NP_001071062 Q17RC7 EX3L4_HUMAN Homo sapiens exocyst complex component 3-like 4 (EXOC3L4), mRNA. 222 cervix(2)|endometrium(2)|lung(4)|ovary(1)|skin(1) 10 GAGCGCGGAGGAGGAAGCCCA 0.751000 4 3 0 0 0.004672 0 0 EPB41L5 57669 broad.mit.edu 37 2 120776753 120776753 + Silent SNP A T T TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr2:120776753A>T uc002tmg.3 + 1 284 c.93A>T c.(91-93)acA>acT p.T31T EPB41L5_uc010flk.3_Silent_p.T31T|EPB41L5_uc010fll.3_Silent_p.T31T|EPB41L5_uc002tmh.4_Silent_p.T31T NM_020909 NP_065960 Q9HCM4 E41L5_HUMAN Homo sapiens erythrocyte membrane protein band 4.1 like 5 (EPB41L5), transcript variant 1, mRNA. 31 cytoplasm|cytoskeleton|extrinsic to membrane cytoskeletal protein binding p.A30T(1) breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(5)|lung(12)|ovary(1) 26 GCGCCGCCACACATATTCCTG 0.498000 62 98 0 0 0.003610 0 0 C1RL 51279 broad.mit.edu 37 12 7249398 7249398 + Silent SNP C A A TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr12:7249398C>A uc001qsn.3 - 5 1146 c.1053G>T c.(1051-1053)ctG>ctT p.L351L C1RL_uc009zft.3_3'UTR NM_016546 NP_057630 Q9NZP8 C1RL_HUMAN Homo sapiens complement component 1, r subcomponent-like (C1RL), mRNA. 351 Peptidase S1. complement activation, classical pathway|innate immune response|proteolysis serine-type endopeptidase activity p.L351fs*35(2) breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 CGTTGGGGCCCAGGGGGATGC 0.617000 39 17 4.7546e-09 6.26306e-09 0.004007 1 0 PRKCE 5581 broad.mit.edu 37 2 46378243 46378243 + Missense_Mutation SNP G A A TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr2:46378243G>A uc002rut.3 + 12 1992 c.1795G>A c.(1795-1797)Gag>Aag p.E599K NM_005400 NP_005391 Q02156 KPCE_HUMAN Homo sapiens protein kinase C, epsilon (PRKCE), mRNA. 599 Protein kinase. activation of phospholipase C activity|induction of apoptosis|intracellular signal transduction|nerve growth factor receptor signaling pathway|platelet activation cytosol|endoplasmic reticulum|plasma membrane ATP binding|enzyme activator activity|metal ion binding|signal transducer activity p.E599E(1) MBOAT2/PRKCE(2) breast(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(13)|ovary(3)|upper_aerodigestive_tract(2) 34 all_hematologic(82;0.155)|Acute lymphoblastic leukemia(82;0.209) LUSC - Lung squamous cell carcinoma(58;0.171) GCTGATGTACGAGATGATGGC 0.567000 25 14 0 0 0.004990 0 0 CDC14A 8556 broad.mit.edu 37 1 100964759 100964759 + Nonsense_Mutation SNP C T T TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr1:100964759C>T uc001dtf.2 + 14 2184 c.1696C>T c.(1696-1698)Cga>Tga p.R566* CDC14A_uc010oui.1_Nonsense_Mutation_p.R508*|CDC14A_uc009wed.1_Nonsense_Mutation_p.R273*|CDC14A_uc001dtg.4_Nonsense_Mutation_p.R566*|CDC14A_uc009wee.3_Nonsense_Mutation_p.R566* NM_033312 NP_201569 Q9UNH5 CC14A_HUMAN Homo sapiens CDC14 cell division cycle 14 homolog A (S. cerevisiae) (CDC14A), transcript variant 2, mRNA. 566 cell cycle|cell division|cell proliferation centrosome|nucleus|spindle protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity p.R566Q(1) breast(1)|endometrium(5)|kidney(6)|large_intestine(6)|lung(10)|skin(2)|urinary_tract(1) 31 all_epithelial(167;3.71e-06)|all_lung(203;0.00097)|Lung NSC(277;0.001) Epithelial(280;0.0676)|all cancers(265;0.127)|COAD - Colon adenocarcinoma(174;0.201)|Lung(183;0.227)|Colorectal(144;0.241) CACCATCCTCCGACCCTCCTA 0.577000 56 23 0 0 0.003954 0 0 GRAMD3 65983 broad.mit.edu 37 5 125801181 125801182 + Missense_Mutation DNP CC TT TT TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr5:125801181_125801182CC>TT uc011cwt.2 + 1 428_429 c.192_193CC>TT c.(190-195)tcccct>tcTTct p.P65S GRAMD3_uc003ktu.3_Missense_Mutation_p.P50S|GRAMD3_uc011cwv.2_Missense_Mutation_p.P43L|GRAMD3_uc011cww.2_5'UTR|GRAMD3_uc011cwx.2_Non-coding_Transcript|GRAMD3_uc011cwy.2_5'UTR|GRAMD3_uc011cwz.2_Missense_Mutation_p.P34S|GRAMD3_uc011cwu.1_Missense_Mutation_p.P34S NM_001146319 NP_001139791 Q96HH9 GRAM3_HUMAN Homo sapiens GRAM domain containing 3 (GRAMD3), transcript variant 1, mRNA. 50 breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 11 Prostate(80;0.0928) KIRC - Kidney renal clear cell carcinoma(527;0.0584)|Kidney(363;0.0934) Epithelial(69;0.0401)|OV - Ovarian serous cystadenocarcinoma(64;0.0604)|all cancers(49;0.108) CAGCCCAATCCCCTACCCCATC 0.495000 47 20 0 0 0.004672 0 0 TTN 7273 broad.mit.edu 37 2 179590692 179590692 + Missense_Mutation SNP C T T TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr2:179590692C>T uc021vsy.1 - 66 16850 c.16625G>A c.(16624-16626)gGa>gAa p.G5542E TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.G2203E NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 6469 Ig-like 36. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.G5542V(1) NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CGGTGGTGTTCCCGAAAGTTC 0.413000 14 12 0 0 0.000978 0 0 PCDH20 64881 broad.mit.edu 37 13 61986097 61986097 + Missense_Mutation SNP A G G TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr13:61986097A>G uc001vid.4 - 1 2499 c.2135T>C c.(2134-2136)gTt>gCt p.V712A PCDH20_uc010thj.2_Missense_Mutation_p.V712A NM_022843 NP_073754 Q8N6Y1 PCD20_HUMAN Homo sapiens protocadherin 20 (PCDH20), mRNA. 685 Cadherin 5. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 58 Breast(118;0.195)|Prostate(109;0.229) GBM - Glioblastoma multiforme(99;0.000118) AACAGCTTCAACCCACAAAGT 0.443000 73 44 0 0 0.003610 0 0 CA9 768 broad.mit.edu 37 9 35675828 35675828 + Silent SNP C T T TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr9:35675828C>T uc003zxo.4 + 2 546 c.504C>T c.(502-504)ccC>ccT p.P168P C9orf100_uc003zxl.3_Non-coding_Transcript NM_001216 NP_001207 Q16790 CAH9_HUMAN Homo sapiens carbonic anhydrase IX (CA9), mRNA. 168 Catalytic. one-carbon metabolic process integral to membrane|microvillus membrane|nucleolus carbonate dehydratase activity|zinc ion binding kidney(1)|large_intestine(3)|lung(5)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1) 17 all_epithelial(49;0.217) Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194) ATATCCGCCCCCAGCTCGCCG 0.711000 14 11 0 0 0.000673 0 0 MXRA5 25878 broad.mit.edu 37 X 3261786 3261786 + Missense_Mutation SNP G A A TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chrX:3261786G>A uc004crg.4 - 1 246 c.89C>T c.(88-90)cCt>cTt p.P30L NM_015419 NP_056234 Q9NR99 MXRA5_HUMAN Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA. 30 LRRNT. 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) GCAGGCACAAGGATGCGGGCA 0.647000 8 12 0 0 0.001855 0 0 TRAF3IP3 80342 broad.mit.edu 37 1 209933708 209933708 + Silent SNP G A A TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr1:209933708G>A uc001hho.3 + 2 744 c.324G>A c.(322-324)agG>agA p.R108R TRAF3IP3_uc001hhm.2_Silent_p.R108R|TRAF3IP3_uc001hhn.3_Intron|TRAF3IP3_uc009xcr.3_Silent_p.R108R NM_025228 NP_079504 Q9Y228 T3JAM_HUMAN Homo sapiens TRAF3 interacting protein 3 (TRAF3IP3), mRNA. 108 integral to membrane protein binding breast(2)|endometrium(1)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 32 OV - Ovarian serous cystadenocarcinoma(81;0.045) GTGCCAGAAGGATTTCTTCTC 0.612000 7 12 0 0 0.000978 0 0 ATP13A3 79572 broad.mit.edu 37 3 194176669 194176669 + Missense_Mutation SNP C T T TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr3:194176669C>T uc003fty.4 - 6 985 c.583G>A c.(583-585)Gaa>Aaa p.E195K NM_024524 NP_078800 Q9H7F0 AT133_HUMAN Homo sapiens ATPase type 13A3 (ATP13A3), mRNA. 195 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 24 all_cancers(143;6.01e-09)|Ovarian(172;0.0634) Melanoma(1037;0.211) OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;5.98e-05) ACAGCAATTTCATTTACTCCA 0.279000 73 39 0 0 0.003214 0 0 KIF21A 55605 broad.mit.edu 37 12 39726695 39726695 + Splice_Site SNP C T T TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr12:39726695C>T uc001rly.3 - 19 3122 c.2702_splice c.e19+1 p.R901_splice KIF21A_uc001rlv.3_5'Flank|KIF21A_uc001rlw.3_Splice_Site_p.R218_splice|KIF21A_uc001rlx.3_Splice_Site_p.R888_splice|KIF21A_uc001rlz.3_Splice_Site_p.R865_splice|KIF21A_uc010skl.2_Splice_Site_p.R888_splice NM_001173464 NP_001166935 Q7Z4S6 KI21A_HUMAN Homo sapiens kinesin family member 21A (KIF21A), transcript variant 1, mRNA. 901 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2) 86 Lung NSC(34;0.179)|all_lung(34;0.213) TTATGTAGACCTGTTTCCATT 0.438000 29 20 0 0 0.001216 0 0 SCARF2 91179 broad.mit.edu 37 22 20779757 20779757 + Missense_Mutation SNP G A A TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr22:20779757G>A uc002zsj.2 - 10 2626 c.2521C>T c.(2521-2523)Ccc>Tcc p.P841S SCARF2_uc002zsk.2_Missense_Mutation_p.P836S NM_153334 NP_699165 Q96GP6 SREC2_HUMAN Homo sapiens scavenger receptor class F, member 2 (SCARF2), transcript variant 1, mRNA. 837 Pro-rich. cell adhesion integral to membrane protein binding|receptor activity breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(2) 10 Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.219) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173) TTCTTCCGGGGGGTCTCAGGC 0.756000 8 4 0 0 0.000602 0 0 IMPG2 50939 broad.mit.edu 37 3 100963420 100963420 + Silent SNP G A A TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr3:100963420G>A uc003duq.2 - 12 1958 c.1755C>T c.(1753-1755)ttC>ttT p.F585F IMPG2_uc011bhe.2_Silent_p.F448F NM_016247 NP_057331 Q9BZV3 IMPG2_HUMAN Homo sapiens interphotoreceptor matrix proteoglycan 2 (IMPG2), mRNA. 585 visual perception integral to membrane|proteinaceous extracellular matrix extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 64 CATCTGGCAGGAAAGGGCTCA 0.433000 54 35 0 0 0.003271 0 0 ZFPM2 23414 broad.mit.edu 37 8 106810992 106810992 + Silent SNP G A A TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr8:106810992G>A uc003ymd.3 + 6 803 c.780G>A c.(778-780)cgG>cgA p.R260R ZFPM2_uc011lhs.2_5'UTR NM_012082 NP_036214 Q8WW38 FOG2_HUMAN Homo sapiens zinc finger protein, multitype 2 (ZFPM2), mRNA. 260 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 p.R260R(2) 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) TCTGGTATCGGAGTGAGCGGA 0.488000 23 20 0 0 0.001882 0 0 PLK3 1263 broad.mit.edu 37 1 45270013 45270013 + Missense_Mutation SNP G A A TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr1:45270013G>A uc001cmn.3 + 11 1445 c.1345G>A c.(1345-1347)Gaa>Aaa p.E449K NM_004073 NP_004064 Q9H4B4 PLK3_HUMAN Homo sapiens polo-like kinase 3 (PLK3), mRNA. 449 membrane ATP binding|protein binding|protein serine/threonine kinase activity endometrium(4)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 Acute lymphoblastic leukemia(166;0.155) CATGACAGCGGAACAGAACCC 0.612000 86 35 0 0 0.004878 0 0 ACTG1 71 broad.mit.edu 37 17 79478514 79478515 + Missense_Mutation DNP CC TT TT TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr17:79478514_79478515CC>TT uc002kak.2 - 3 759_760 c.501_502GG>AA c.(499-504)gagggc>gaAAgc p.G168S ACTG1_uc002kag.3_Non-coding_Transcript|ACTG1_uc002kal.2_Missense_Mutation_p.G168S|ACTG1_uc021ufb.1_5'Flank NM_001199954 NP_001186883 P63261 ACTG_HUMAN Homo sapiens actin, gamma 1 (ACTG1), transcript variant 1, mRNA. 168 adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement cytoskeleton|cytosol ATP binding|identical protein binding p.G168A(1) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|lung(8)|ovary(2)|prostate(5)|urinary_tract(1) 29 all_neural(118;0.0878)|Melanoma(429;0.242) BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0547) AGGGCGTAGCCCTCGTAGATGG 0.644000 62 41 0 0 0.004672 0 0 RNF175 285533 broad.mit.edu 37 4 154631608 154631608 + Silent SNP G A A TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr4:154631608G>A uc003int.3 - 8 1273 c.900C>T c.(898-900)atC>atT p.I300I NM_173662 NP_775933 Q8N4F7 RN175_HUMAN Homo sapiens ring finger protein 175 (RNF175), mRNA. 300 integral to membrane zinc ion binding breast(1)|endometrium(1)|large_intestine(5)|lung(1)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1) 13 all_hematologic(180;0.093) Renal(120;0.118) GCCAATCCAGGATTTGTCCAT 0.428000 7 3 0 0 0.004672 0 0 DGAT2L6 347516 broad.mit.edu 37 X 69424192 69424192 + Missense_Mutation SNP G A A TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chrX:69424192G>A uc004dxx.1 + 5 782 c.685G>A c.(685-687)Gaa>Aaa p.E229K NM_198512 NP_940914 Q6ZPD8 DG2L6_HUMAN Homo sapiens diacylglycerol O-acyltransferase 2-like 6 (DGAT2L6), mRNA. 229 lipid biosynthetic process endoplasmic reticulum membrane|integral to membrane acyltransferase activity breast(1)|endometrium(2)|large_intestine(3)|lung(5)|ovary(1) 12 TGGTGAGAACGAAGTTTTCAA 0.468000 2 5 0 0 0.000602 0 0 UTP6 55813 broad.mit.edu 37 17 30192395 30192395 + Silent SNP G A A rs138066981 byFrequency TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr17:30192395G>A uc002hgr.3 - 17 1709 c.1626C>T c.(1624-1626)tcC>tcT p.S542S UTP6_uc002hgq.3_Silent_p.S358S NM_018428 NP_060898 Q9NYH9 UTP6_HUMAN Homo sapiens UTP6, small subunit (SSU) processome component, homolog (yeast) (UTP6), mRNA. 542 rRNA processing nucleolus binding breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1) 21 all_hematologic(16;0.0149)|Ovarian(249;0.021)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|Breast(31;0.231) CAGAATCTGCGGATCCAAACT 0.408000 39 17 0 0 0.004990 0 0 AGPAT4 56895 broad.mit.edu 37 6 161575237 161575237 + Missense_Mutation SNP G A A rs143406726 TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr6:161575237G>A uc003qtr.1 - 3 681 c.454C>T c.(454-456)Cgc>Tgc p.R152C AGPAT4_uc003qts.1_Missense_Mutation_p.R12C|AGPAT4_uc011egb.1_Intron|AGPAT4_uc003qtt.1_Non-coding_Transcript|AGPAT4_uc011egc.1_Missense_Mutation_p.R152C|AGPAT4_uc011egd.1_Missense_Mutation_p.R90C|AGPAT4_uc011ege.1_Missense_Mutation_p.S95L NM_020133 NP_064518 Q9NRZ5 PLCD_HUMAN Homo sapiens 1-acylglycerol-3-phosphate O-acyltransferase 4 (lysophosphatidic acid acyltransferase, delta) (AGPAT4), mRNA. 152 phospholipid biosynthetic process integral to membrane 1-acylglycerol-3-phosphate O-acyltransferase activity|protein binding endometrium(1)|large_intestine(10)|lung(10)|ovary(2)|skin(2) 25 Breast(66;0.000289)|Ovarian(120;0.0266)|Prostate(117;0.0285) OV - Ovarian serous cystadenocarcinoma(65;2.23e-17)|BRCA - Breast invasive adenocarcinoma(81;3.58e-05) ACCGTCTTGCGATCCTGCTCC 0.562000 44 33 0 0 0.003271 0 0 LPHN2 23266 broad.mit.edu 37 1 82408831 82408831 + Silent SNP C T T TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr1:82408831C>T uc001dit.4 + 5 757 c.576C>T c.(574-576)ttC>ttT p.F192F LPHN2_uc001dis.3_Intron|LPHN2_uc001diu.3_Silent_p.F192F|LPHN2_uc001div.3_Silent_p.F192F|LPHN2_uc009wcd.3_Silent_p.F192F NM_012302 NP_036434 O95490 LPHN2_HUMAN Homo sapiens latrophilin 2 (LPHN2), mRNA. 192 Olfactomedin-like. neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 119 all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248) TAGAAGATTTCCAAAATAGTC 0.383000 16 7 0 0 0.004482 0 0 CIT 11113 broad.mit.edu 37 12 120159206 120159206 + Missense_Mutation SNP G A A TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr12:120159206G>A uc001txj.2 - 28 3696 c.3640C>T c.(3640-3642)Cgt>Tgt p.R1214C CIT_uc001txh.2_Missense_Mutation_p.R706C|CIT_uc001txi.2_Missense_Mutation_p.R1172C NM_001206999 NP_001193928 O14578 CTRO_HUMAN Homo sapiens citron (rho-interacting, serine/threonine kinase 21) (CIT), transcript variant 1, mRNA. 1172 Interaction with Rho/Rac. intracellular signal transduction ATP binding|SH3 domain binding|metal ion binding|protein serine/threonine kinase activity|small GTPase regulator activity breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6) 86 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) Myeloproliferative disorder(1001;0.0255) BRCA - Breast invasive adenocarcinoma(302;0.211) TGAGTCAGACGGAAAATGTGA 0.458000 57 27 0 0 0.007291 0 0 GMPPA 29926 broad.mit.edu 37 2 220370189 220370189 + Silent SNP C T T TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr2:220370189C>T uc002vlv.3 + 8 1140 c.765C>T c.(763-765)ctC>ctT p.L255L GMPPA_uc002vlr.3_Silent_p.L255L NM_205847 NP_995319 Q96IJ6 GMPPA_HUMAN Homo sapiens GDP-mannose pyrophosphorylase A (GMPPA), transcript variant 2, mRNA. 255 GDP-mannose biosynthetic process|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine GTP binding|mannose-1-phosphate guanylyltransferase activity breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(1) 20 Renal(207;0.0183) Epithelial(149;3.82e-10)|all cancers(144;6.25e-08)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00807)|READ - Rectum adenocarcinoma(5;0.148) GTTCAGCCCTCTACGCCTCCC 0.662000 11 4 0 0 0.000248 0 0 FAM55D 54827 broad.mit.edu 37 11 114453428 114453428 + Missense_Mutation SNP G T T TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr11:114453428G>T uc001ppc.3 - 2 593 c.412C>A c.(412-414)Ctg>Atg p.L138M FAM55D_uc001ppd.3_Intron NM_001077639 NP_001071107 Q6UWF7 FA55D_HUMAN Homo sapiens family with sequence similarity 55, member D (FAM55D), transcript variant 1, mRNA. 138 extracellular region breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(17)|ovary(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 37 all_cancers(61;8.53e-16)|all_epithelial(67;1.71e-08)|all_hematologic(158;3.05e-05)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0194)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906) BRCA - Breast invasive adenocarcinoma(274;2.82e-06)|Epithelial(105;0.000129)|all cancers(92;0.000938) CTGGCCCTCAGGAAATCCCCG 0.577000 12 7 2.74318e-10 3.63611e-10 0.006214 1 0 UGT1A1 54658 broad.mit.edu 37 2 234526745 234526745 + Missense_Mutation SNP G A A TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr2:234526745G>A uc002vup.3 + 0 455 c.392G>A c.(391-393)cGa>cAa p.R131Q UGT1A1_uc010zmv.1_Missense_Mutation_p.R131Q NM_019076 NP_061949 P22309 UD11_HUMAN Homo sapiens UDP glucuronosyltransferase 1 family, polypeptide A8 (UGT1A8), mRNA. 134 bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process endoplasmic reticulum membrane|microsome enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding p.R131Q(1) breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2) 30 Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128) Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054) Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197) TTTAATGACCGAAAATTAGTA 0.358000 83 41 0 0 0.001951 0 0 FAM171A1 221061 broad.mit.edu 37 10 15256350 15256351 + Missense_Mutation DNP GG AA AA TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr10:15256350_15256351GG>AA uc001iob.3 - 7 1243_1244 c.1236_1237CC>TT c.(1234-1239)accccc>acTTcc p.P413S NM_001010924 NP_001010924 Q5VUB5 F1711_HUMAN Homo sapiens family with sequence similarity 171, member A1 (FAM171A1), mRNA. 413 integral to membrane breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 52 TTGAGCATGGGGGTGTGCAGGT 0.584000 62 22 0 0 0.004672 0 0 CRLF1 9244 broad.mit.edu 37 19 18709614 18709614 + Silent SNP G A A TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr19:18709614G>A uc010ebt.2 - 2 689 c.495C>T c.(493-495)ctC>ctT p.L165L NM_004750 NP_004741 O75462 CRLF1_HUMAN Homo sapiens cytokine receptor-like factor 1 (CRLF1), mRNA. 165 Fibronectin type-III 1. negative regulation of neuron apoptosis|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of Stat3 protein extracellular space cytokine binding|protein heterodimerization activity|receptor activity p.L165L(2) central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1) 9 AGTTGGTGTGGAGGAAGGTCT 0.612000 60 23 0 0 0.004656 0 0 F13A1 2162 broad.mit.edu 37 6 6225023 6225023 + Missense_Mutation SNP G A A TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr6:6225023G>A uc003mwv.3 - 6 992 c.869C>T c.(868-870)cCa>cTa p.P290L F13A1_uc011dib.2_Missense_Mutation_p.P227L NM_000129 NP_000120 P00488 F13A_HUMAN Homo sapiens coagulation factor XIII, A1 polypeptide (F13A1), mRNA. 290 peptide cross-linking|platelet activation|platelet degranulation extracellular region|platelet alpha granule lumen acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 62 Ovarian(93;0.0816) all_hematologic(90;0.152) L-Glutamine(DB00130) CCAGGCCGATGGGGGGACGCC 0.502000 45 37 0 0 0.006999 0 0 TUBGCP3 10426 broad.mit.edu 37 13 113153388 113153388 + Missense_Mutation SNP C T T TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr13:113153388C>T uc001vse.1 - 19 2606 c.2419G>A c.(2419-2421)Gaa>Aaa p.E807K TUBGCP3_uc010tjq.1_Missense_Mutation_p.E797K|TUBGCP3_uc001vsf.3_Missense_Mutation_p.E807K NM_006322 NP_006313 Q96CW5 GCP3_HUMAN Homo sapiens tubulin, gamma complex associated protein 3 (TUBGCP3), mRNA. 807 G2/M transition of mitotic cell cycle|microtubule nucleation|single fertilization centriole|cytosol|polar microtubule gamma-tubulin binding|structural constituent of cytoskeleton central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|urinary_tract(1) 25 all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163) TTTTTCTCTTCAAACTGTAAT 0.353000 32 16 0 0 0.006122 0 0 VWA3A 146177 broad.mit.edu 37 16 22122279 22122279 + Missense_Mutation SNP C T T TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr16:22122279C>T uc010vbq.2 + 7 749 c.653C>T c.(652-654)tCc>tTc p.S218F VWA3A_uc010bxc.2_Missense_Mutation_p.S205F NM_173615 NP_775886 A6NCI4 VWA3A_HUMAN Homo sapiens von Willebrand factor A domain containing 3A (VWA3A), mRNA. 218 extracellular region haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1) 7 GBM - Glioblastoma multiforme(48;0.0439) AATGCCGGGTCCCTCTGGCCA 0.552000 7 5 0 0 0.001168 0 0 OR6B2 389090 broad.mit.edu 37 2 240968962 240968962 + Silent SNP C T T TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr2:240968962C>T uc010zoc.2 - 0 885 c.885G>A c.(883-885)aaG>aaA p.K295K OR6B2_uc002vyr.3_Silent_p.K295K NM_001005853 NP_001005853 Q6IFH4 OR6B2_HUMAN Homo sapiens olfactory receptor, family 6, subfamily B, member 2 (OR6B2), mRNA. 295 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|large_intestine(4)|lung(9)|prostate(1) 15 all_epithelial(40;1.64e-11)|Breast(86;0.000327)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238) Epithelial(121;3.4e-29)|all cancers(36;2.08e-27)|OV - Ovarian serous cystadenocarcinoma(60;4.63e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.56e-05)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148) CCTTAAATTCCTTGTTCCTCA 0.433000 80 43 0 0 0.003610 0 0 ABCA1 19 broad.mit.edu 37 9 107646745 107646745 + Missense_Mutation SNP C T T TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr9:107646745C>T uc004bcl.3 - 3 669 c.265G>A c.(265-267)Gag>Aag p.E89K ABCA1_uc004bcm.3_Missense_Mutation_p.E29K NM_005502 NP_005493 O95477 ABCA1_HUMAN Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 1 (ABCA1), mRNA. 89 Cdc42 protein signal transduction|G-protein coupled receptor protein signaling pathway|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle ATP binding|ATPase activity|anion transmembrane transporter activity|apolipoprotein A-I receptor activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 115 OV - Ovarian serous cystadenocarcinoma(323;0.023) Adenosine triphosphate(DB00171)|Glibenclamide(DB01016) CCGGGAGCCTCCCCAGGAGTC 0.443000 49 26 0 0 0.005443 0 0 WNK1 65125 broad.mit.edu 37 12 971371 971371 + Missense_Mutation SNP G A A TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr12:971371G>A uc021qss.1 + 7 2717 c.2074G>A c.(2074-2076)Ggg>Agg p.G692R WNK1_uc001qio.4_Missense_Mutation_p.G692R|WNK1_uc021qst.1_Missense_Mutation_p.G692R|WNK1_uc001qip.4_Missense_Mutation_p.G692R|WNK1_uc001qir.4_Missense_Mutation_p.G139R NM_001184985 NP_001171914 Q9H4A3 WNK1_HUMAN Homo sapiens WNK lysine deficient protein kinase 1 (WNK1), transcript variant 4, mRNA. 692 intracellular protein kinase cascade|ion transport|neuron development cytoplasm ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2) 104 all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632) Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197) CACAGTCCCAGGGCATATACC 0.468000 52 26 0 0 0.001786 0 0 EPN2 22905 broad.mit.edu 37 17 19186844 19186844 + Missense_Mutation SNP G A A TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr17:19186844G>A uc002gvd.4 + 2 860 c.412G>A c.(412-414)Gaa>Aaa p.E138K EPN2_uc002gvc.2_Missense_Mutation_p.E138K|EPN2_uc010vyn.1_Missense_Mutation_p.E138K|EPN2_uc010cql.1_Intron|EPN2_uc002gve.4_Missense_Mutation_p.E138K|EPN2_uc002gvf.4_Intron|EPN2_uc010vyo.2_Intron|EPN2_uc002gvh.1_Missense_Mutation_p.E138K|EPN2_uc010vyp.2_Missense_Mutation_p.E138K|EPN2_uc010vyq.2_Missense_Mutation_p.E138K NM_014964 NP_001096134 O95208 EPN2_HUMAN Homo sapiens epsin 2 (EPN2), transcript variant 2, mRNA. 138 ENTH. endocytosis lipid binding breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|prostate(1)|skin(2)|urinary_tract(1) 19 all_cancers(12;3.11e-05)|all_epithelial(12;0.00121)|Hepatocellular(7;0.00345)|Breast(13;0.143) CAAGGACGAGGAACGGTTGAA 0.572000 41 23 0 0 0.002780 0 0 ZNF746 155061 broad.mit.edu 37 7 149172351 149172351 + Silent SNP C T T TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr7:149172351C>T uc010lpi.2 - 6 1333 c.1062G>A c.(1060-1062)agG>agA p.R354R ZNF746_uc003wfw.2_Silent_p.R353R NM_001163474 NP_001156946 Q6NUN9 ZN746_HUMAN Homo sapiens zinc finger protein 746 (ZNF746), transcript variant 1, mRNA. 353 negative regulation of transcription, DNA-dependent|neuron death|regulation of cell death|transcription, DNA-dependent cytoplasm|nucleus transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 34 Melanoma(164;0.165) OV - Ovarian serous cystadenocarcinoma(82;0.00358) CACCCATGTCCCTCTCAGGCC 0.672000 45 9 0 0 0.000673 0 0 CREB1 1385 broad.mit.edu 37 2 208440042 208440042 + Silent SNP C T T TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr2:208440042C>T uc002vcc.3 + 6 845 c.594C>T c.(592-594)acC>acT p.T198T CREB1_uc010ziz.1_Silent_p.T182T|CREB1_uc002vcd.3_Silent_p.T184T|CREB1_uc010zja.1_Non-coding_Transcript NM_134442 NP_604391 P16220 CREB1_HUMAN Homo sapiens cAMP responsive element binding protein 1 (CREB1), transcript variant B, mRNA. 198 MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|activation of phospholipase C activity|axon guidance|innate immune response|interspecies interaction between organisms|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of transcription from RNA polymerase II promoter|protein phosphorylation|stress-activated MAPK cascade|synaptic transmission|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway protein dimerization activity|transcription cofactor activity EWSR1/CREB1(44) NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|upper_aerodigestive_tract(1) 5 LUSC - Lung squamous cell carcinoma(261;0.0768)|Epithelial(149;0.127)|Lung(261;0.145) Adenosine monophosphate(DB00131)|Bromocriptine(DB01200)|Naloxone(DB01183) ACAATGGTACCGATGGGGTAC 0.448000 T EWSR1 """clear cell sarcoma, angiomatoid fibrous histiocytoma""" 57 35 0 0 0.006230 0 0 ZNF646 9726 broad.mit.edu 37 16 31087862 31087862 + Missense_Mutation SNP G A A TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr16:31087862G>A uc002eap.3 + 1 506 c.217G>A c.(217-219)Ggc>Agc p.G73S ZNF668_uc002eao.3_5'Flank|ZNF646_uc021tgu.1_Missense_Mutation_p.G73S NM_014699 NP_055514 O15015 ZN646_HUMAN Homo sapiens zinc finger protein 646 (ZNF646), mRNA. 73 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3) 49 CCACGAGACTGGCCTTTTCCC 0.627000 31 20 0 0 0.001523 0 0 LRRC15 131578 broad.mit.edu 37 3 194080633 194080633 + Silent SNP G A A TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr3:194080633G>A uc003ftt.3 - 2 1283 c.1158C>T c.(1156-1158)ctC>ctT p.L386L LRRC15_uc003ftu.3_Silent_p.L380L|LRRC15_uc021xiy.1_Silent_p.L380L NM_001135057 NP_570843 Q8TF66 LRC15_HUMAN Homo sapiens leucine rich repeat containing 15 (LRRC15), transcript variant 1, mRNA. 380 integral to membrane biliary_tract(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(20)|ovary(4)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 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;4.94e-05) TATTCCCTGGGAGCTGTCTGA 0.587000 24 14 0 0 0.003163 0 0 NLRP12 91662 broad.mit.edu 37 19 54313760 54313760 + Missense_Mutation SNP C T T TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr19:54313760C>T uc002qcj.4 - 2 1373 c.1153G>A c.(1153-1155)Ggc>Agc p.G385S NLRP12_uc010eqw.3_5'Flank|NLRP12_uc002qch.4_Missense_Mutation_p.G385S|NLRP12_uc002qci.4_Missense_Mutation_p.G385S|NLRP12_uc002qck.4_Non-coding_Transcript|NLRP12_uc010eqx.3_Missense_Mutation_p.G385S NM_144687 NP_653288 P59046 NAL12_HUMAN Homo sapiens NLR family, pyrin domain containing 12 (NLRP12), transcript variant 2, mRNA. 385 NACHT. negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of Toll signaling pathway|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB cytoplasm ATP binding|caspase activator activity|protein binding p.A384V(1) NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 80 Ovarian(34;0.19) GBM - Glioblastoma multiforme(134;0.026) AAGACTTGGCCCGCCTGCTCT 0.562000 136 74 0 0 0.003610 0 0 PTCHD3 374308 broad.mit.edu 37 10 27687339 27687339 + Missense_Mutation SNP G A A TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr10:27687339G>A uc001itu.2 - 3 2306 c.2188C>T c.(2188-2190)Cca>Tca p.P730S NM_001034842 NP_001030014 Q3KNS1 PTHD3_HUMAN Homo sapiens patched domain containing 3 (PTCHD3), mRNA. 730 spermatid development integral to membrane hedgehog receptor activity NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3) 55 TGAAAATTTGGAAAATTGCTT 0.313000 22 10 0 0 0.006214 0 0 BRIP1 83990 broad.mit.edu 37 17 59885835 59885835 + Missense_Mutation SNP C T T TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr17:59885835C>T uc002izk.2 - 6 1217 c.911G>A c.(910-912)gGg>gAg p.G304E NM_032043 NP_114432 Q9BX63 FANCJ_HUMAN Homo sapiens BRCA1 interacting protein C-terminal helicase 1 (BRIP1), mRNA. 304 Helicase ATP-binding. DNA damage checkpoint|double-strand break repair|regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding NS(1)|breast(3)|endometrium(9)|kidney(5)|large_intestine(9)|liver(2)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 55 CACGTTTTTCCCATCTAGCAA 0.338000 """F, N, Mis""" """AML, leukemia, breast""" Involved in tolerance or repair of DNA crosslinks 42 19 0 0 0.001523 0 0 DHCR7 1717 broad.mit.edu 37 11 71146730 71146730 + Silent SNP C T T TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr11:71146730C>T uc001oqk.3 - 8 1369 c.1119G>A c.(1117-1119)agG>agA p.R373R DHCR7_uc001oql.3_Silent_p.R373R NM_001163817 NP_001351 Q9UBM7 DHCR7_HUMAN Homo sapiens 7-dehydrocholesterol reductase (DHCR7), transcript variant 2, mRNA. 373 cholesterol biosynthetic process endoplasmic reticulum membrane|integral to membrane|nuclear outer membrane 7-dehydrocholesterol reductase activity|protein binding endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(1)|skin(1) 19 NADH(DB00157) CCTTGGGCTTCCTGCCCCAGA 0.652000 Smith-Lemli-Opitz syndrome 33 16 0 0 0.001523 0 0 GPSM1 26086 broad.mit.edu 37 9 139250282 139250282 + Silent SNP C T T TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr9:139250282C>T uc004chd.2 + 11 1816 c.1596C>T c.(1594-1596)acC>acT p.T532T GPSM1_uc011mdu.1_Silent_p.T23T|GPSM1_uc022bpn.1_Silent_p.T23T|GPSM1_uc004che.2_Silent_p.T23T NM_001145638 NP_001139110 Q86YR5 GPSM1_HUMAN Homo sapiens G-protein signaling modulator 1 (GPSM1), transcript variant 1, mRNA. 532 cell differentiation|nervous system development|signal transduction Golgi membrane|cytosol|endoplasmic reticulum membrane|plasma membrane GTPase activator activity|binding p.I532F(1) biliary_tract(1)|endometrium(1)|kidney(2)|lung(4)|upper_aerodigestive_tract(1) 9 Myeloproliferative disorder(178;0.0821) OV - Ovarian serous cystadenocarcinoma(145;2.39e-06)|Epithelial(140;3.24e-06) CCGCCCCCACCCTGGAGGACA 0.692000 25 22 0 0 0.003330 0 0 PTGFRN 5738 broad.mit.edu 37 1 117509688 117509688 + Missense_Mutation SNP C T T TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr1:117509688C>T uc001egv.1 + 5 1932 c.1795C>T c.(1795-1797)Ccc>Tcc p.P599S NM_020440 NP_065173 Q9P2B2 FPRP_HUMAN Homo sapiens prostaglandin F2 receptor negative regulator (PTGFRN), mRNA. 599 Ig-like C2-type 5. Golgi apparatus|endoplasmic reticulum membrane|integral to membrane protein binding NS(1)|breast(1)|endometrium(4)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1) 46 Lung SC(450;0.225) all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446) Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248) CCTCTCCAGTCCCAATGAAAC 0.463000 58 29 0 0 0.001512 0 0 PRAMEF17 391004 broad.mit.edu 37 1 13716849 13716849 + Silent SNP C T T TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr1:13716849C>T uc009vnz.1 + 1 366 c.336C>T c.(334-336)ttC>ttT p.F112F NM_001099851 NP_001093321 Q5VTA0 PRA17_HUMAN Homo sapiens PRAME family member 17 (PRAMEF17), mRNA. 112 kidney(1)|lung(2) 3 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;9.86e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|COAD - Colon adenocarcinoma(227;0.000502)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) ATGGGAATTTCTGGACTATAT 0.542000 89 64 0 0 0.003610 0 0 TNKS 8658 broad.mit.edu 37 8 9437707 9437707 + Missense_Mutation SNP A T T TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr8:9437707A>T uc003wss.3 + 1 717 c.712A>T c.(712-714)Atg>Ttg p.M238L TNKS_uc011kwv.1_Missense_Mutation_p.M238L|TNKS_uc011kww.2_Missense_Mutation_p.M1L NM_003747 NP_003738 O95271 TNKS1_HUMAN Homo sapiens tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase (TNKS), mRNA. 238 Wnt receptor signaling pathway|mRNA transport|mitotic spindle organization|negative regulation of DNA binding|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of telomere maintenance via telomerase|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein poly-ADP-ribosylation|protein polyubiquitination|protein transport|spindle assembly|transmembrane transport Golgi membrane|chromosome, centromeric region|microsome|nuclear chromosome, telomeric region|nuclear membrane|nuclear pore|pericentriolar material NAD+ ADP-ribosyltransferase activity|protein binding|zinc ion binding NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2) 49 COAD - Colon adenocarcinoma(149;0.0467) CTTACTACAGATGGGTGCTAA 0.388000 82 64 0 0 0.003610 0 0 WDR65 149465 broad.mit.edu 37 1 43675430 43675430 + Missense_Mutation SNP C T T TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr1:43675430C>T uc021omk.1 + 10 1918 c.1772C>T c.(1771-1773)tCg>tTg p.S591L EBNA1BP2_uc001cio.3_Intron|WDR65_uc010ojz.2_Missense_Mutation_p.S580L|WDR65_uc001ciq.2_Missense_Mutation_p.S591L|WDR65_uc001cip.2_Missense_Mutation_p.S591L NM_001195831 NP_001182760 Q96MR6 WDR65_HUMAN Homo sapiens WD repeat domain 65 (WDR65), transcript variant 5, mRNA. 591 NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 23 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) CGAGAGATATCGGCGTTTGAT 0.572000 27 13 0 0 0.001368 0 0 MLH3 27030 broad.mit.edu 37 14 75513442 75513442 + Missense_Mutation SNP G A A TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr14:75513442G>A uc001xrd.1 - 1 3133 c.2917C>T c.(2917-2919)Ccc>Tcc p.P973S MLH3_uc001xre.1_Missense_Mutation_p.P973S|MLH3_uc010tuy.1_Non-coding_Transcript NM_001040108 NP_001035197 Q9UHC1 MLH3_HUMAN Homo sapiens mutL homolog 3 (E. coli) (MLH3), transcript variant 1, mRNA. 973 mismatch repair|reciprocal meiotic recombination MutLbeta complex|chiasma|synaptonemal complex ATP binding|ATPase activity|mismatched DNA binding|protein binding|satellite DNA binding breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 44 BRCA - Breast invasive adenocarcinoma(234;0.00688) TTATTATAGGGCAATACCAAA 0.353000 Mismatch excision repair (MMR) 36 21 0 0 0.001523 0 0 BRWD1 54014 broad.mit.edu 37 21 40601257 40601257 + Missense_Mutation SNP C T T TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr21:40601257C>T uc002yxk.2 - 25 3401 c.3106G>A c.(3106-3108)Gac>Aac p.D1036N BRWD1_uc010goc.1_5'UTR|BRWD1_uc021wjf.1_Missense_Mutation_p.D1036N|BRWD1_uc010god.1_Missense_Mutation_p.D2N NM_018963 NP_061836 Q9NSI6 BRWD1_HUMAN Homo sapiens bromodomain and WD repeat domain containing 1 (BRWD1), transcript variant 1, mRNA. 1036 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2) 58 Prostate(19;8.44e-08)|all_epithelial(19;0.223) AAAGATTTGTCCATAAGTTTT 0.328000 15 3 0 0 0.004672 0 0 MAGEA6 4105 broad.mit.edu 37 X 151870012 151870013 + Missense_Mutation DNP GG AA AA TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chrX:151870012_151870013GG>AA uc022chf.1 + 0 702_703 c.702_703GG>AA c.(700-705)agggaa>agAAaa p.E235K MAGEA6_uc004ffq.1_Missense_Mutation_p.E235K|MAGEA6_uc004ffr.1_Missense_Mutation_p.E235K NM_175868 NP_787064 P43360 MAGA6_HUMAN Homo sapiens melanoma antigen family A, 6 (MAGEA6), transcript variant 2, mRNA. 235 MAGE. protein binding breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1) 28 Acute lymphoblastic leukemia(192;6.56e-05) TTGAGGGGAGGGAAGACAGTAT 0.535000 30 81 0 0 0.004672 0 0 CWH43 80157 broad.mit.edu 37 4 49009265 49009265 + Missense_Mutation SNP A C C TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr4:49009265A>C uc003gyv.3 + 7 1290 c.1108A>C c.(1108-1110)Aaa>Caa p.K370Q CWH43_uc011bzl.2_Missense_Mutation_p.K343Q NM_025087 NP_079363 Q9H720 PG2IP_HUMAN Homo sapiens cell wall biogenesis 43 C-terminal homolog (S. cerevisiae) (CWH43), mRNA. 370 GPI anchor biosynthetic process integral to membrane cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1) 43 TGGTCCTAAGAAAAACCTTGA 0.308000 23 15 0 0 0.006122 0 0 SZT2 23334 broad.mit.edu 37 1 43913864 43913864 + Silent SNP G A A TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr1:43913864G>A uc001cjk.2 + 67 9591 c.6981G>A c.(6979-6981)ggG>ggA p.G2327G SZT2_uc001cjl.2_Silent_p.G315G NM_015284 NP_056099 Q5T011 SZT2_HUMAN Homo sapiens seizure threshold 2 homolog (mouse) (SZT2), mRNA. 3226 peroxisome NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 113 AGGCTCCTGGGAGTTCAGCTG 0.662000 13 6 0 0 0.001168 0 0 WBSCR17 64409 broad.mit.edu 37 7 70885994 70885994 + Missense_Mutation SNP G A A TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr7:70885994G>A uc003tvy.3 + 4 865 c.865G>A c.(865-867)Gag>Aag p.E289K WBSCR17_uc003tvz.3_5'UTR NM_022479 NP_071924 Q6IS24 GLTL3_HUMAN Homo sapiens Williams-Beuren syndrome chromosome region 17 (WBSCR17), mRNA. 289 Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding p.E289K(2)|p.E289G(1) NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 100 all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125) GCAGCGGTACGAGAACTCGGC 0.587000 125 40 0 0 0.007835 0 0 GPR116 221395 broad.mit.edu 37 6 46845956 46845956 + Missense_Mutation SNP C T T TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr6:46845956C>T uc003oyo.3 - 9 1512 c.1223G>A c.(1222-1224)gGa>gAa p.G408E GPR116_uc003oyp.3_Intron|GPR116_uc003oyq.3_Missense_Mutation_p.G408E|GPR116_uc010jzi.1_Missense_Mutation_p.G80E|GPR116_uc003oyr.2_Missense_Mutation_p.G408E NM_001098518 NP_056049 Q8IZF2 GP116_HUMAN Homo sapiens G protein-coupled receptor 116 (GPR116), transcript variant 2, mRNA. 408 Ig-like 2. neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 59 Lung(136;0.192) ATTTATTTTTCCTTCCTGCTT 0.408000 35 19 0 0 0.002780 0 0 MYOCD 93649 broad.mit.edu 37 17 12647604 12647604 + Silent SNP G A A TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr17:12647604G>A uc002gno.2 + 7 1121 c.822G>A c.(820-822)aaG>aaA p.K274K MYOCD_uc002gnn.2_Silent_p.K274K|MYOCD_uc002gnp.1_Silent_p.K178K|MYOCD_uc002gnq.2_5'UTR NM_001146312 NP_001139784 Q8IZQ8 MYCD_HUMAN Homo sapiens myocardin (MYOCD), transcript variant 1, mRNA. 274 cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation nucleus RNA polymerase II transcription factor binding transcription factor activity|nucleic acid binding|transcription factor binding breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 70 UCEC - Uterine corpus endometrioid carcinoma (92;0.0969) CAGACCAGAAGGCAGAGAAGT 0.547000 46 18 0 0 0.001523 0 0 ZEB2 9839 broad.mit.edu 37 2 145157133 145157133 + Nonsense_Mutation SNP G A A TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr2:145157133G>A uc002tvu.3 - 7 2143 c.1621C>T c.(1621-1623)Cag>Tag p.Q541* ZEB2_uc010zbm.2_Nonsense_Mutation_p.Q517*|ZEB2_uc002tvv.3_Nonsense_Mutation_p.Q535*|ZEB2_uc010fnp.3_Intron|ZEB2_uc010fnq.1_Nonsense_Mutation_p.Q570* NM_014795 NP_055610 O60315 ZEB2_HUMAN Homo sapiens zinc finger E-box binding homeobox 2 (ZEB2), transcript variant 1, mRNA. 541 cytoplasm|nucleolus SMAD binding|phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 107 BRCA - Breast invasive adenocarcinoma(221;0.112) GTCAAGCTCTGGAGGCAAGCT 0.393000 49 19 0 0 0.001523 0 0 ABCA8 10351 broad.mit.edu 37 17 66933150 66933150 + Missense_Mutation SNP A T T TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr17:66933150A>T uc002jhq.3 - 4 748 c.408T>A c.(406-408)caT>caA p.H136Q ABCA8_uc002jhp.3_Missense_Mutation_p.H136Q|ABCA8_uc010wqq.2_Missense_Mutation_p.H136Q|ABCA8_uc010wqr.2_Missense_Mutation_p.H75Q|ABCA8_uc002jhr.3_Missense_Mutation_p.H136Q|ABCA8_uc002jhs.3_Missense_Mutation_p.H136Q|ABCA8_uc002jht.3_Missense_Mutation_p.H136Q NM_007168 NP_009099 O94911 ABCA8_HUMAN Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 8 (ABCA8), mRNA. 136 integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances p.Y135Y(1) breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4) 83 Breast(10;4.56e-13) AGAACTTCAAATGATATGAGT 0.363000 21 14 0 0 0.002450 0 0 PCLO 27445 broad.mit.edu 37 7 82764940 82764940 + Missense_Mutation SNP C T T TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr7:82764940C>T uc003uhx.2 - 2 2215 c.1926G>A c.(1924-1926)atG>atA p.M642I PCLO_uc003uhv.2_Missense_Mutation_p.M642I NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA. 588 Pro-rich. cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 GAGCTCTTTTCATTTGACAGT 0.413000 17 7 0 0 0.004482 0 0 TNN 63923 broad.mit.edu 37 1 175054544 175054544 + Missense_Mutation SNP T G G TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr1:175054544T>G uc001gkl.1 + 5 1351 c.1238T>G c.(1237-1239)cTg>cGg p.L413R TNN_uc010pmx.1_Missense_Mutation_p.L413R NM_022093 NP_071376 Q9UQP3 TENN_HUMAN Homo sapiens tenascin N (TNN), mRNA. 413 Fibronectin type-III 2. cell growth|cell migration|signal transduction extracellular space|proteinaceous extracellular matrix p.L413L(1) NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 156 Breast(1374;0.000962) KIRC - Kidney renal clear cell carcinoma(1967;0.00198) TTTCCAGGTCTGCACCCGGGG 0.592000 9 13 0 0 0.001855 0 0 BACE1 23621 broad.mit.edu 37 11 117167627 117167627 + Silent SNP G A A TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr11:117167627G>A uc001pqz.3 - 1 773 c.312C>T c.(310-312)gcC>gcT p.A104A BACE1_uc001pqw.3_Silent_p.A104A|BACE1_uc001pqx.3_Silent_p.A104A|BACE1_uc001pqy.3_Silent_p.A104A|BACE1_uc001pra.1_Silent_p.A104A|BACE1_uc010rxg.2_5'Flank|BACE1_uc010rxh.2_5'Flank NM_012104 NP_036236 P56817 BACE1_HUMAN Homo sapiens beta-site APP-cleaving enzyme 1 (BACE1), transcript variant a, mRNA. 104 beta-amyloid metabolic process|membrane protein ectodomain proteolysis cell surface|cytoplasmic vesicle membrane|endoplasmic reticulum|endosome|integral to plasma membrane|trans-Golgi network aspartic-type endopeptidase activity|beta-aspartyl-peptidase activity|protein binding breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|prostate(1) 19 all_hematologic(175;0.0487) Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000563)|all cancers(92;0.0032) AGGGGTGGGGGGCAGCACCCA 0.567000 57 23 0 0 0.007291 0 0 GCNT1 2650 broad.mit.edu 37 9 79117502 79117502 + Missense_Mutation SNP G A A TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr9:79117502G>A uc022bif.1 + 0 205 c.205G>A c.(205-207)Gaa>Aaa p.E69K GCNT1_uc010mpf.3_Missense_Mutation_p.E69K|GCNT1_uc010mpg.3_Missense_Mutation_p.E69K|GCNT1_uc010mph.3_Missense_Mutation_p.E69K|GCNT1_uc004akf.4_Missense_Mutation_p.E69K|GCNT1_uc010mpi.3_Missense_Mutation_p.E69K|GCNT1_uc004akh.4_Missense_Mutation_p.E69K NM_001490 NP_001481 Q02742 GCNT1_HUMAN Homo sapiens glucosaminyl (N-acetyl) transferase 1, core 2 (GCNT1), transcript variant 2, mRNA. 69 Stem region (By similarity). protein O-linked glycosylation Golgi membrane|integral to membrane beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(11)|prostate(2)|urinary_tract(1) 30 TGATGTAAATGAAATCCAAAA 0.403000 41 33 0 0 0.002836 0 0 NRXN2 9379 broad.mit.edu 37 11 64390505 64390505 + Missense_Mutation SNP C T T TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr11:64390505C>T uc021qkw.1 - 20 4355 c.3893G>A c.(3892-3894)gGg>gAg p.G1298E NRXN2_uc021qkx.1_Missense_Mutation_p.G1228E|NRXN2_uc001oas.3_Missense_Mutation_p.G1228E|NRXN2_uc001oao.3_5'UTR|NRXN2_uc001oap.3_Missense_Mutation_p.G252E|NRXN2_uc001oaq.3_Missense_Mutation_p.G965E NM_015080 NP_055895 Q9P2S2 NRX2A_HUMAN Homo sapiens neurexin 2 (NRXN2), transcript variant alpha-1, mRNA. 1298 Laminin G-like 6. cell adhesion integral to membrane metal ion binding breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1) 71 ATCCCGGCCCCCGATCTTGAT 0.662000 8 8 0 0 0.003080 0 0 GPR101 83550 broad.mit.edu 37 X 136112705 136112705 + Missense_Mutation SNP G A A TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chrX:136112705G>A uc011mwh.2 - 0 1129 c.1129C>T c.(1129-1131)Cca>Tca p.P377S NM_054021 NP_473362 Q96P66 GP101_HUMAN Homo sapiens G protein-coupled receptor 101 (GPR101), mRNA. 377 integral to membrane|plasma membrane G-protein coupled receptor activity autonomic_ganglia(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(18)|ovary(3)|skin(1)|urinary_tract(1) 42 Acute lymphoblastic leukemia(192;0.000127) CGACTGGGTGGGAGGCTCTCC 0.507000 18 45 0 0 0.002852 0 0 TRRAP 8295 broad.mit.edu 37 7 98547353 98547353 + Missense_Mutation SNP G T T TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr7:98547353G>T uc003upp.3 + 35 5212 c.5003G>T c.(5002-5004)cGa>cTa p.R1668L TRRAP_uc011kis.2_Missense_Mutation_p.R1650L|TRRAP_uc003upr.3_Missense_Mutation_p.R1367L NM_001244580 NP_001231509 Q9Y4A5 TRRAP_HUMAN Homo sapiens transformation/transcription domain-associated protein (TRRAP), transcript variant 1, mRNA. 1668 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) AGCCAGTTGCGACGTGTGTGG 0.532000 32 16 1.56452e-12 2.0803e-12 0.007413 1 0 PKP2 5318 broad.mit.edu 37 12 32945415 32945415 + Silent SNP C T T TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr12:32945415C>T uc001rlj.4 - 13 2704 c.2589G>A c.(2587-2589)aaG>aaA p.K863K PKP2_uc001rlk.4_Silent_p.K819K|PKP2_uc010skj.2_Silent_p.K816K NM_004572 NP_004563 Q99959 PKP2_HUMAN Homo sapiens plakophilin 2 (PKP2), transcript variant 2b, mRNA. 863 cell-cell adhesion desmosome|integral to membrane|nucleus binding NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1) 50 Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239) AATCTGTCTTCTTAAACTGAG 0.423000 26 28 0 0 0.001512 0 0 MYOCD 93649 broad.mit.edu 37 17 12656112 12656112 + Missense_Mutation SNP G A A TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr17:12656112G>A uc002gno.2 + 9 1806 c.1507G>A c.(1507-1509)Ggg>Agg p.G503R MYOCD_uc002gnn.2_Missense_Mutation_p.G503R|MYOCD_uc002gnp.1_Missense_Mutation_p.G407R|MYOCD_uc002gnq.2_Missense_Mutation_p.G222R NM_001146312 NP_001139784 Q8IZQ8 MYCD_HUMAN Homo sapiens myocardin (MYOCD), transcript variant 1, mRNA. 503 Ser-rich. cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation nucleus RNA polymerase II transcription factor binding transcription factor activity|nucleic acid binding|transcription factor binding breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 70 UCEC - Uterine corpus endometrioid carcinoma (92;0.0969) CAGCCTGAATGGGGGCTCTGT 0.582000 21 11 0 0 0.000978 0 0 TMEM132B 114795 broad.mit.edu 37 12 126004087 126004087 + Silent SNP G A A TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr12:126004087G>A uc001uhe.1 + 3 1202 c.1194G>A c.(1192-1194)ccG>ccA p.P398P TMEM132B_uc021rgl.1_Silent_p.P288P NM_052907 NP_443139 Q14DG7 T132B_HUMAN Homo sapiens transmembrane protein 132B (TMEM132B), mRNA. 398 integral to membrane NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1) 107 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362) TGGAGTACCCGATTGAGGACT 0.532000 61 43 0 0 0.001951 0 0 SESN2 83667 broad.mit.edu 37 1 28599271 28599271 + Silent SNP C T T TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr1:28599271C>T uc001bps.3 + 4 1113 c.717C>T c.(715-717)agC>agT p.S239S NM_031459 NP_113647 P58004 SESN2_HUMAN Homo sapiens sestrin 2 (SESN2), mRNA. 239 cell cycle arrest cytoplasm|nucleus cervix(1)|endometrium(3)|large_intestine(5)|lung(7)|ovary(2)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 27 Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;4.76e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261) OV - Ovarian serous cystadenocarcinoma(117;2.98e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|READ - Rectum adenocarcinoma(331;0.0649) AACAGAGCAGCCCCCCAAGCA 0.627000 20 11 0 0 0.000978 0 0 SLCO4C1 353189 broad.mit.edu 37 5 101593000 101593000 + Missense_Mutation SNP G A A TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr5:101593000G>A uc003knm.3 - 7 1575 c.1288C>T c.(1288-1290)Cct>Tct p.P430S NM_180991 NP_851322 Q6ZQN7 SO4C1_HUMAN Homo sapiens solute carrier organic anion transporter family, member 4C1 (SLCO4C1), mRNA. 430 cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis basolateral plasma membrane|integral to membrane sodium-independent organic anion transmembrane transporter activity breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5) 50 all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486) Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986) GCAGCTCCAGGAATTAAAACA 0.363000 26 13 0 0 0.001855 0 0 ATP8B4 79895 broad.mit.edu 37 15 50226379 50226379 + Splice_Site SNP C T T TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr15:50226379C>T uc001zxu.3 - 15 1430 c.1288_splice c.e15-1 p.E430_splice ATP8B4_uc010ber.3_Splice_Site_p.E303_splice|ATP8B4_uc010ufd.2_Splice_Site_p.E303_splice|ATP8B4_uc010ufe.2_Splice_Site NM_024837 NP_079113 Q8TF62 AT8B4_HUMAN Homo sapiens ATPase, class I, type 8B, member 4 (ATP8B4), mRNA. 430 ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1) 73 all_lung(180;0.00183) all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05) GGCTCTTTTTCCTGTAGGAGA 0.338000 10 6 0 0 0.001168 0 0 DNAH8 1769 broad.mit.edu 37 6 38863945 38863945 + Missense_Mutation SNP C T T TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr6:38863945C>T uc021yzh.1 + 59 8993 c.8884C>T c.(8884-8886)Cca>Tca p.P2962S DNAH8_uc003ooe.2_Missense_Mutation_p.P2745S NM_001206927 NP_001193856 Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA. p.A2961G(1) NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4) 260 GATGCCAGAACCAACTGGTGA 0.388000 40 19 0 0 0.001216 0 0 NKAIN3 286183 broad.mit.edu 37 8 63492212 63492212 + Missense_Mutation SNP T G G TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr8:63492212T>G uc010lyq.1 + 1 301 c.169T>G c.(169-171)Tac>Gac p.Y57D NM_173688 NP_775959 Q8N8D7 NKAI3_HUMAN Homo sapiens Na+/K+ transporting ATPase interacting 3 (NKAIN3), mRNA. 57 integral to membrane|plasma membrane kidney(3)|large_intestine(2)|lung(8) 13 Breast(64;0.127) Lung NSC(129;0.187) GACCATTCAGTACAGACCTCG 0.318000 18 11 0 0 0.001368 0 0 TFAP4 7023 broad.mit.edu 37 16 4312327 4312327 + Nonsense_Mutation SNP G A A TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr16:4312327G>A uc010uxg.2 - 2 606 c.352C>T c.(352-354)Cag>Tag p.Q118* NM_003223 NP_003214 Q01664 TFAP4_HUMAN Homo sapiens transcription factor AP-4 (activating enhancer binding protein 4) (TFAP4), mRNA. 118 Leucine-zipper 1. DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation by host of viral transcription|negative regulation of DNA binding|negative regulation of cell cycle arrest|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of transcription, DNA-dependent|positive regulation by host of viral transcription|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|regulation of S phase of mitotic cell cycle transcriptional repressor complex E-box binding|histone deacetylase binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity NS(1)|endometrium(2)|lung(8)|ovary(1)|prostate(1)|skin(1) 14 GGGCGCACCTGGATGAAGCGC 0.612000 83 37 0 0 0.001951 0 0 APCDD1 147495 broad.mit.edu 37 18 10471552 10471552 + Missense_Mutation SNP T C C TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr18:10471552T>C uc002kom.4 + 2 622 c.268T>C c.(268-270)Ttc>Ctc p.F90L NM_153000 NP_694545 Q8J025 APCD1_HUMAN Homo sapiens adenomatosis polyposis coli down-regulated 1 (APCDD1), mRNA. 90 Wnt receptor signaling pathway|hair follicle development|negative regulation of Wnt receptor signaling pathway integral to plasma membrane Wnt-protein binding NS(1)|breast(1)|endometrium(3)|large_intestine(5)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 READ - Rectum adenocarcinoma(15;0.08) AGGCCCAGAGTTCATCACAAG 0.428000 21 24 0 0 0.006320 0 0 CEACAM18 729767 broad.mit.edu 37 19 51981864 51981864 + Missense_Mutation SNP G A A TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr19:51981864G>A uc002pwv.1 + 1 151 c.151G>A c.(151-153)Gga>Aga p.G51R NM_001080405 NP_001073874 A8MTB9 CEA18_HUMAN Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 18 (CEACAM18), mRNA. 51 integral to membrane breast(1)|endometrium(4)|large_intestine(3)|lung(8)|skin(1) 17 all_neural(266;0.0529) GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.00979) GTCTCTGGAGGGACCCCTCCT 0.622000 29 6 0 0 0.001168 0 0 GLRA1 2741 broad.mit.edu 37 5 151202299 151202299 + Missense_Mutation SNP T C C TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr5:151202299T>C uc003lut.3 - 8 1596 c.1309A>G c.(1309-1311)Att>Gtt p.I437V GLRA1_uc003lur.3_Missense_Mutation_p.I429V|GLRA1_uc003lus.3_Missense_Mutation_p.I346V NM_001146040 NP_001139512 P23415 GLRA1_HUMAN Homo sapiens glycine receptor, alpha 1 (GLRA1), transcript variant 1, mRNA. 437 muscle contraction|negative regulation of transmission of nerve impulse|neuropeptide signaling pathway|positive regulation of acrosome reaction|regulation of membrane potential|startle response cell junction|chloride channel complex|integral to plasma membrane|intracellular membrane-bounded organelle|postsynaptic membrane extracellular-glycine-gated chloride channel activity|glycine binding|protein binding|receptor activity|taurine binding|transmitter-gated ion channel activity breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 23 all_hematologic(541;0.0341)|Medulloblastoma(196;0.0912) Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785) Desflurane(DB01189)|Enflurane(DB00228)|Ethanol(DB00898)|Glycine(DB00145)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236) ATGTTGAAAATGAGGAAGGCC 0.512000 34 25 0 0 0.002780 0 0 PTPRT 11122 broad.mit.edu 37 20 41101144 41101144 + Silent SNP G A A TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr20:41101144G>A uc002xkg.3 - 7 1396 c.1212C>T c.(1210-1212)acC>acT p.T404T PTPRT_uc010ggj.3_Silent_p.T404T NM_007050 NP_008981 O14522 PTPRT_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA. 404 Fibronectin type-III 2. homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway cell surface|integral to membrane|plasma membrane alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 176 Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783) CCCACTGCAGGGTCAGCTGCC 0.572000 32 10 0 0 0.000673 0 0 NEU4 129807 broad.mit.edu 37 2 242755725 242755725 + Missense_Mutation SNP G A A TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr2:242755725G>A uc002wcp.2 + 1 577 c.83G>A c.(82-84)cGg>cAg p.R28Q NEU4_uc010fzr.3_Missense_Mutation_p.R15Q|NEU4_uc002wcm.3_Missense_Mutation_p.R15Q|NEU4_uc002wco.2_Missense_Mutation_p.R15Q|NEU4_uc002wcn.2_Missense_Mutation_p.R27Q NM_001167599 NP_001161074 Q8WWR8 NEUR4_HUMAN Homo sapiens sialidase 4 (NEU4), transcript variant 2, mRNA. 15 lysosomal lumen|organelle inner membrane exo-alpha-sialidase activity|protein binding breast(1)|lung(10)|prostate(2)|skin(2) 15 all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0825) CTCTTCGAGCGGGAGAGGACG 0.692000 33 22 0 0 0.002299 0 0 PKD1 5310 broad.mit.edu 37 16 2159610 2159610 + Missense_Mutation SNP G A A TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr16:2159610G>A uc002cos.1 - 14 5767 c.5558C>T c.(5557-5559)aCc>aTc p.T1853I TCRBV20S1_uc021tak.1_Intron|PKD1_uc002cot.1_Missense_Mutation_p.T1853I NM_001009944 NP_001009944 P98161 PKD1_HUMAN Homo sapiens polycystic kidney disease 1 (autosomal dominant) (PKD1), transcript variant 1, mRNA. 1853 PKD 14. calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway basolateral plasma membrane|integral to plasma membrane protein domain specific binding|sugar binding breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3) 72 GAAGACCATGGTGACATGAGG 0.657000 9 6 0 0 0.001168 0 0 RARA 5914 broad.mit.edu 37 17 38487555 38487555 + Missense_Mutation SNP C T T TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr17:38487555C>T uc021txb.1 + 0 447 c.85C>T c.(85-87)Ccc>Tcc p.P29S RARA_uc002huk.2_Missense_Mutation_p.P29S|RARA_uc002hul.4_Missense_Mutation_p.P29S|RARA_uc010wfe.2_Missense_Mutation_p.P29S NM_001145301 NP_001138773 P10276 RARA_HUMAN Homo sapiens retinoic acid receptor, alpha (RARA), transcript variant 3, mRNA. 29 Modulating. apoptotic cell clearance|cellular response to estrogen stimulus|cellular response to retinoic acid|estrogen receptor signaling pathway|negative regulation of granulocyte differentiation|negative regulation of interferon-gamma production|negative regulation of tumor necrosis factor production|positive regulation of T-helper 2 cell differentiation|positive regulation of binding|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of interleukin-13 production|positive regulation of interleukin-4 production|positive regulation of interleukin-5 production|positive regulation of transcription from RNA polymerase II promoter|protein phosphorylation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to estradiol stimulus cytoplasm|nucleoplasm chromatin DNA binding|enzyme binding|protein domain specific binding|protein heterodimerization activity|receptor binding|retinoic acid binding|retinoic acid receptor activity|retinoic acid-responsive element binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding breast(1)|kidney(4)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|urinary_tract(2) 16 Breast(137;0.00328) STAD - Stomach adenocarcinoma(5;0.00143) Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Isotretinoin(DB00982)|Tamibarotene(DB04942)|Tazarotene(DB00799) CTTCTTCTTCCCCCCTATGCT 0.632000 T """PML, ZNF145, TIF1, NUMA1, NPM1""" APL 47 21 0 0 0.001216 0 0 VPS13B 157680 broad.mit.edu 37 8 100712097 100712097 + Missense_Mutation SNP C G G TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr8:100712097C>G uc003yiv.3 + 35 6577 c.6466C>G c.(6466-6468)Ctg>Gtg p.L2156V VPS13B_uc003yiw.3_Missense_Mutation_p.L2131V NM_017890 NP_060360 Q7Z7G8 VP13B_HUMAN Homo sapiens vacuolar protein sorting 13 homolog B (yeast) (VPS13B), transcript variant 5, mRNA. 2156 protein transport NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9) 193 Breast(36;3.73e-07) OV - Ovarian serous cystadenocarcinoma(57;0.00636) CAAACCATGCCTGTTAGCATC 0.438000 37 10 0 0 0.006214 0 0 FAM24B 196792 broad.mit.edu 37 10 124608939 124608939 + Missense_Mutation SNP C T T TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr10:124608939C>T uc001lgt.3 - 3 443 c.109G>A c.(109-111)Gaa>Aaa p.E37K CUZD1_uc001lgs.3_5'UTR|CUZD1_uc010qtz.2_Intron|FAM24B_uc021qai.1_Missense_Mutation_p.E37K NM_152644 NP_689857 Q8N5W8 FA24B_HUMAN Homo sapiens family with sequence similarity 24, member B (FAM24B), transcript variant 1, mRNA. 37 extracellular region endometrium(1)|kidney(1)|large_intestine(1)|lung(1) 4 all_neural(114;0.0765)|Lung NSC(174;0.163)|all_lung(145;0.205) Colorectal(40;0.136)|COAD - Colon adenocarcinoma(40;0.141) GCCACAGCTTCAGGTTCCTTT 0.498000 45 20 0 0 0.002780 0 0 SLIT2 9353 broad.mit.edu 37 4 20619207 20619207 + Missense_Mutation SNP C T T TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr4:20619207C>T uc003gpr.1 + 35 4486 c.4282C>T c.(4282-4284)Ctt>Ttt p.L1428F SLIT2_uc003gps.1_Missense_Mutation_p.L1420F NM_004787 NP_004778 O94813 SLIT2_HUMAN Homo sapiens slit homolog 2 (Drosophila) (SLIT2), mRNA. 1428 Roundabout signaling pathway|apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|ureteric bud development cell surface|cytoplasm|extracellular space|plasma membrane GTPase inhibitor activity|Roundabout binding|calcium ion binding|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding p.R1427S(1) NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1) 116 GAAGTGCAGGCTTTCAGGTCT 0.562000 16 12 0 0 0.000978 0 0 HS3ST4 9951 broad.mit.edu 37 16 26147140 26147140 + Silent SNP G T T TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr16:26147140G>T uc002dof.3 + 1 1334 c.942G>T c.(940-942)ctG>ctT p.L314L NM_006040 NP_006031 Q9Y661 HS3S4_HUMAN Homo sapiens heparan sulfate (glucosamine) 3-O-sulfotransferase 4 (HS3ST4), mRNA. 314 heparan sulfate proteoglycan metabolic process Golgi membrane|extracellular region|integral to membrane [heparan sulfate]-glucosamine 3-sulfotransferase 1 activity breast(2)|endometrium(3)|large_intestine(1)|lung(9) 15 GBM - Glioblastoma multiforme(48;0.0988) TTGAGGTGCTGGCCTTCAAAA 0.532000 108 55 1.13205e-32 1.51476e-32 0.003610 1 0 F13A1 2162 broad.mit.edu 37 6 6152106 6152106 + Missense_Mutation SNP C T T TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr6:6152106C>T uc003mwv.3 - 13 2108 c.1985G>A c.(1984-1986)cGa>cAa p.R662Q F13A1_uc011dib.2_Intron NM_000129 NP_000120 P00488 F13A_HUMAN Homo sapiens coagulation factor XIII, A1 polypeptide (F13A1), mRNA. 662 peptide cross-linking|platelet activation|platelet degranulation extracellular region|platelet alpha granule lumen acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 62 Ovarian(93;0.0816) all_hematologic(90;0.152) L-Glutamine(DB00130) CCAGACATTTCGCAGGGTTTC 0.498000 36 22 0 0 0.001523 0 0 RSPH9 221421 broad.mit.edu 37 6 43618155 43618155 + Missense_Mutation SNP G A A TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr6:43618155G>A uc003ovx.2 + 1 340 c.271G>A c.(271-273)Gag>Aag p.E91K RSPH9_uc003ovw.2_Missense_Mutation_p.E91K NM_001193341 NP_001180270 Q9H1X1 RSPH9_HUMAN Homo sapiens radial spoke head 9 homolog (Chlamydomonas) (RSPH9), transcript variant 2, mRNA. 91 cilium axoneme assembly|cilium movement cytoplasm|cytoskeleton NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 12 TGCCACAGAGGAGATGGTGGC 0.537000 Kartagener syndrome 41 22 0 0 0.002299 0 0 SLCO3A1 28232 broad.mit.edu 37 15 92459369 92459369 + Silent SNP C T T TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr15:92459369C>T uc002bqx.2 + 1 528 c.327C>T c.(325-327)atC>atT p.I109I SLCO3A1_uc002bqy.2_Silent_p.I109I|SLCO3A1_uc010boc.1_Non-coding_Transcript|SLCO3A1_uc002bqz.1_Silent_p.I51I NM_013272 NP_037404 Q9UIG8 SO3A1_HUMAN Homo sapiens solute carrier organic anion transporter family, member 3A1 (SLCO3A1), transcript variant 1, mRNA. 109 sodium-independent organic anion transport integral to membrane|plasma membrane sodium-independent organic anion transmembrane transporter activity p.L108L(2) 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) CGCGCCTGATCGGCTGCGGCG 0.682000 9 11 0 0 0.000978 0 0 KEL 3792 broad.mit.edu 37 7 142649655 142649655 + Nonsense_Mutation SNP G A A TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr7:142649655G>A uc003wcb.3 - 9 1354 c.1144C>T c.(1144-1146)Cag>Tag p.Q382* NM_000420 NP_000411 P23276 KELL_HUMAN Homo sapiens Kell blood group, metallo-endopeptidase (KEL), mRNA. 382 Q -> R (in KEL23 antigen). proteolysis|vasoconstriction integral to membrane|plasma membrane metal ion binding|metalloendopeptidase activity|protein binding central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1) 60 Melanoma(164;0.059) CGTGCCTCCTGGAATTGACTG 0.532000 54 12 0 0 0.001368 0 0 OR2A25 392138 broad.mit.edu 37 7 143772113 143772113 + Silent SNP G A A TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr7:143772113G>A uc011ktx.2 + 0 801 c.801G>A c.(799-801)aaG>aaA p.K267K NM_001004488 NP_001004488 A4D2G3 O2A25_HUMAN Homo sapiens olfactory receptor, family 2, subfamily A, member 25 (OR2A25), mRNA. 267 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(16)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1) 24 Melanoma(164;0.0783) AGAGCCCCAAGGAGCAGAAGA 0.463000 149 168 0 0 0.003610 0 0 COL22A1 169044 broad.mit.edu 37 8 139895406 139895407 + Missense_Mutation DNP GG AA AA TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr8:139895406_139895407GG>AA uc003yvd.3 - 1 456_457 c.9_10CC>TT c.(7-12)ggcctc>ggTTtc p.L4F NM_152888 NP_690848 Q8NFW1 COMA1_HUMAN Homo sapiens collagen, type XXII, alpha 1 (COL22A1), mRNA. 4 cell adhesion collagen|cytoplasm structural molecule activity breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4) 211 all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0517) TTCCCTCGGAGGCCGGCCATGG 0.663000 HNSCC(7;0.00092) 5 6 0 0 0.004672 0 0 DTX1 1840 broad.mit.edu 37 12 113534561 113534561 + Silent SNP C T T TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr12:113534561C>T uc001tuk.1 + 8 2016 c.1680C>T c.(1678-1680)atC>atT p.I560I NM_004416 NP_004407 Q86Y01 DTX1_HUMAN Homo sapiens deltex homolog 1 (Drosophila) (DTX1), mRNA. 560 Notch signaling pathway|negative regulation of neuron differentiation|regulation of Notch signaling pathway|transcription from RNA polymerase II promoter cytoplasm|nucleus Notch binding|SH3 domain binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 32 GAAGACTCATCTTCACTATCG 0.637000 16 6 0 0 0.001984 0 0 KLHL4 56062 broad.mit.edu 37 X 86890589 86890589 + Missense_Mutation SNP G A A TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chrX:86890589G>A uc004efa.2 + 8 1921 c.1739G>A c.(1738-1740)gGa>gAa p.G580E KLHL4_uc004efb.2_Missense_Mutation_p.G580E NM_057162 NP_476503 Q9C0H6 KLHL4_HUMAN Homo sapiens kelch-like 4 (Drosophila) (KLHL4), transcript variant 2, mRNA. 580 cytoplasm|microtubule cytoskeleton|nucleolus actin binding NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1) 67 GGACGTGATGGAAGTTCCTGC 0.398000 3 7 0 0 0.003080 0 0 C11orf85 283129 broad.mit.edu 37 11 64726820 64726820 + Missense_Mutation SNP G A A TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr11:64726820G>A uc001ocb.1 - 1 122 c.58C>T c.(58-60)Ccc>Tcc p.P20S C11orf85_uc001occ.1_Non-coding_Transcript|C11orf85_uc001ocd.1_Missense_Mutation_p.P20S NM_001037225 NP_001032302 Q3KP22 CK085_HUMAN Homo sapiens chromosome 11 open reading frame 85 (C11orf85), mRNA. 20 breast(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(2) 7 TACACATTGGGTCCTGCATGA 0.393000 48 21 0 0 0.003954 0 0 MLL5 55904 broad.mit.edu 37 7 104717435 104717435 + Missense_Mutation SNP C T T TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr7:104717435C>T uc003vcm.3 + 9 1328 c.794C>T c.(793-795)tCa>tTa p.S265L MLL5_uc010lja.1_Missense_Mutation_p.S119L|MLL5_uc010ljb.1_Missense_Mutation_p.S265L|MLL5_uc003vcl.3_Missense_Mutation_p.S265L|MLL5_uc010ljc.3_Missense_Mutation_p.S265L|MLL5_uc003vco.1_Non-coding_Transcript|MLL5_uc010ljd.1_5'Flank NM_182931 NP_891847 Q8IZD2 MLL5_HUMAN Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 5 (trithorax homolog, Drosophila) (MLL5), transcript variant 1, mRNA. 265 DNA methylation|cell cycle arrest|cellular response to retinoic acid|erythrocyte differentiation|neutrophil activation|neutrophil mediated immunity|positive regulation of granulocyte differentiation|positive regulation of transcription, DNA-dependent|retinoic acid receptor signaling pathway|transcription, DNA-dependent MLL5-L complex|nuclear speck enzyme binding|histone methyltransferase activity (H3-K4 specific)|transcription coactivator activity|zinc ion binding NS(1)|breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(13)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2) 63 ATTGATCCTTCATCTGATGGT 0.423000 18 12 0 0 0.001855 0 0 FAT4 79633 broad.mit.edu 37 4 126370114 126370114 + Missense_Mutation SNP C T T TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr4:126370114C>T uc003ifj.4 + 8 7943 c.7943C>T c.(7942-7944)cCt>cTt p.P2648L FAT4_uc011cgp.2_Missense_Mutation_p.P946L|FAT4_uc003ifi.1_Missense_Mutation_p.P126L NM_024582 NP_078858 Q6V0I7 FAT4_HUMAN Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA. 2648 Cadherin 25. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 ggtttccctcctttctCCTCT 0.368000 23 10 0 0 0.000673 0 0 ENTPD7 57089 broad.mit.edu 37 10 101458474 101458474 + Silent SNP C T T TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr10:101458474C>T uc009xwl.3 + 10 1555 c.1200C>T c.(1198-1200)gcC>gcT p.A400A ENTPD7_uc001kqa.4_Silent_p.A398A NM_020354 NP_065087 Q9NQZ7 ENTP7_HUMAN Homo sapiens ectonucleoside triphosphate diphosphohydrolase 7 (ENTPD7), mRNA. 398 cytoplasmic vesicle membrane|integral to membrane hydrolase activity breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|urinary_tract(1) 18 Colorectal(252;0.234) Epithelial(162;4.72e-10)|all cancers(201;3.75e-08) CCAGCCAGGCCTCACTCAATG 0.507000 40 19 0 0 0.001523 0 0 SERPINA9 327657 broad.mit.edu 37 14 94931161 94931161 + Silent SNP G A A TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr14:94931161G>A uc001ydf.3 - 3 1148 c.987C>T c.(985-987)tcC>tcT p.S329S SERPINA9_uc001yde.3_Silent_p.S229S|SERPINA9_uc010avc.3_Silent_p.S180S|SERPINA9_uc001ydg.3_Silent_p.S293S|SERPINA9_uc001ydh.1_Silent_p.S329S|SERPINA9_uc001ydi.1_Silent_p.S293S NM_175739 NP_783866 Q86WD7 SPA9_HUMAN Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9 (SERPINA9), transcript variant A, mRNA. 311 regulation of proteolysis cytoplasm|extracellular region|membrane serine-type endopeptidase inhibitor activity NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(17) 21 all_cancers(154;0.0691)|all_epithelial(191;0.233) Epithelial(152;0.144)|COAD - Colon adenocarcinoma(157;0.224)|all cancers(159;0.24) AGGCAGAAATGGAAAATCTGG 0.458000 28 19 0 0 0.001523 0 0 LRRK2 120892 broad.mit.edu 37 12 40631877 40631877 + Missense_Mutation SNP C G G TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr12:40631877C>G uc001rmg.4 + 4 664 c.543C>G c.(541-543)tgC>tgG p.C181W NM_198578 NP_940980 Q5S007 LRRK2_HUMAN Homo sapiens leucine-rich repeat kinase 2 (LRRK2), mRNA. 181 activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb external side of mitochondrial outer membrane ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2) 181 all_cancers(12;0.00108)|Breast(8;0.218) Lung NSC(34;0.0942)|all_lung(34;0.11) AACTTGGATGCAAAGCTTTAC 0.333000 47 19 0 0 0.001882 0 0 MAP3K9 4293 broad.mit.edu 37 14 71202707 71202707 + Silent SNP G A A rs143470273 TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr14:71202707G>A uc001xmm.3 - 8 1884 c.1884C>T c.(1882-1884)acC>acT p.T628T MAP3K9_uc010ttk.2_Intron|MAP3K9_uc001xmk.3_Intron|MAP3K9_uc001xml.3_Silent_p.T628T NM_033141 NP_149132 P80192 M3K9_HUMAN Homo sapiens mitogen-activated protein kinase kinase kinase 9 (MAP3K9), mRNA. 628 activation of JUN kinase activity|protein autophosphorylation ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2) 46 all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08) ATTCTGATGGGGTACTTAAAC 0.473000 29 13 0 0 0.002450 0 0 CACNA2D4 93589 broad.mit.edu 37 12 1983830 1983830 + Silent SNP G A A TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr12:1983830G>A uc021qsx.1 - 17 2049 c.1818C>T c.(1816-1818)gcC>gcT p.A606A CACNA2D4_uc009zds.2_Non-coding_Transcript|CACNA2D4_uc009zdt.1_Intron NM_172364 NP_758952 Q7Z3S7 CA2D4_HUMAN Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 4 (CACNA2D4), mRNA. 606 integral to membrane calcium channel activity|metal ion binding|voltage-gated ion channel activity endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 39 Ovarian(42;0.107) Myeloproliferative disorder(1001;0.206) OV - Ovarian serous cystadenocarcinoma(31;0.00113) Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451) TATTGATCATGGCTGTTCTCA 0.493000 25 14 0 0 0.003163 0 0 PALB2 79728 broad.mit.edu 37 16 23635414 23635414 + Splice_Site SNP A T T TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr16:23635414A>T uc002dlx.1 - 8 2949 c.2749_splice c.e8-1 p.V917_splice NM_024675 NP_078951 Q86YC2 PALB2_HUMAN Homo sapiens partner and localizer of BRCA2 (PALB2), mRNA. 917 Interaction with RAD51 and BRCA2. double-strand break repair via homologous recombination nucleoplasm DNA binding|protein binding breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(3) 55 GBM - Glioblastoma multiforme(48;0.0167) TAATACTGGAACCTAAATAAA 0.338000 """F, N, Mis""" """Wilms tumor, medulloblastoma, AML ,breast""" Involved in tolerance or repair of DNA crosslinks 18 6 0 0 0.003080 0 0 HAP1 9001 broad.mit.edu 37 17 39881132 39881132 + Missense_Mutation SNP C T T TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr17:39881132C>T uc002hxm.1 - 11 1849 c.1837G>A c.(1837-1839)Gag>Aag p.E613K JUP_uc010wfs.2_Intron|HAP1_uc002hxn.1_Missense_Mutation_p.E561K|HAP1_uc002hxo.1_Missense_Mutation_p.E544K|HAP1_uc002hxp.1_Missense_Mutation_p.E536K NM_177977 NP_817084 P54257 HAP1_HUMAN Homo sapiens huntingtin-associated protein 1 (HAP1), transcript variant 2, mRNA. 613 brain development|protein localization|synaptic transmission actin cytoskeleton protein binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(4)|skin(1) 21 Breast(137;0.000162) BRCA - Breast invasive adenocarcinoma(4;0.0677) CCGCTGGCCTCCAGGGCTGAT 0.607000 135 59 0 0 0.003610 0 0 APOH 350 broad.mit.edu 37 17 64216785 64216785 + Missense_Mutation SNP G A A rs11551960 TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr17:64216785G>A uc002jfn.4 - 4 550 c.491C>T c.(490-492)tCc>tTc p.S164F NM_000042 NP_000033 P02749 APOH_HUMAN Homo sapiens apolipoprotein H (beta-2-glycoprotein I) (APOH), mRNA. 164 Sushi 3. blood coagulation, intrinsic pathway|negative regulation of angiogenesis|negative regulation of blood coagulation|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of myeloid cell apoptosis|negative regulation of smooth muscle cell apoptosis|plasminogen activation|positive regulation of lipoprotein lipase activity|triglyceride metabolic process|triglyceride transport cell surface|chylomicron|high-density lipoprotein particle|very-low-density lipoprotein particle eukaryotic cell surface binding|glycoprotein binding|heparin binding|lipoprotein lipase activator activity|phospholipid binding central_nervous_system(1)|kidney(3)|large_intestine(5)|lung(6)|skin(1)|upper_aerodigestive_tract(1) 17 BRCA - Breast invasive adenocarcinoma(6;9.74e-08) CCGATAGAGGGAATTGTTTCC 0.408000 55 18 0 0 0.002299 0 0 MAP2 4133 broad.mit.edu 37 2 210559632 210559632 + Missense_Mutation SNP C T T TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr2:210559632C>T uc002vde.1 + 6 2986 c.2738C>T c.(2737-2739)tCa>tTa p.S913L MAP2_uc002vdc.1_Missense_Mutation_p.S913L|MAP2_uc002vdd.1_Intron|MAP2_uc002vdf.1_Intron|MAP2_uc002vdg.1_Intron|MAP2_uc002vdh.1_Intron|MAP2_uc002vdi.1_Missense_Mutation_p.S909L NM_002374 NP_002365 P11137 MAP2_HUMAN Homo sapiens microtubule-associated protein 2 (MAP2), transcript variant 1, mRNA. 913 central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization cytoplasm|microtubule|microtubule associated complex beta-dystroglycan binding|calmodulin binding|structural molecule activity breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 124 Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202) UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18) Estramustine(DB01196) ACAGACCTTTCACTGATTGAA 0.458000 27 21 0 0 0.002780 0 0 MORC2 22880 broad.mit.edu 37 22 31345759 31345759 + Missense_Mutation SNP T A A TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr22:31345759T>A uc003aje.1 - 5 1474 c.110A>T c.(109-111)cAg>cTg p.Q37L NM_014941 NP_055756 Q9Y6X9 MORC2_HUMAN Homo sapiens MORC family CW-type zinc finger 2 (MORC2), mRNA. 99 ATP binding|zinc ion binding breast(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1) 21 ATTCCCGTACTGCCCAATCTG 0.463000 76 52 0 0 0.003610 0 0 WWC2 80014 broad.mit.edu 37 4 184210780 184210780 + Missense_Mutation SNP G A A TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr4:184210780G>A uc010irx.3 + 20 3558 c.3376G>A c.(3376-3378)Gag>Aag p.E1126K WWC2_uc003ivk.4_Missense_Mutation_p.E921K|WWC2_uc003ivl.4_Non-coding_Transcript|WWC2_uc010iry.3_Missense_Mutation_p.E808K|WWC2_uc003ivn.4_Missense_Mutation_p.E641K|WWC2_uc010irz.3_Missense_Mutation_p.E467K|WWC2_uc003ivo.4_Missense_Mutation_p.E254K NM_024949 NP_079225 Q6AWC2 WWC2_HUMAN Homo sapiens WW and C2 domain containing 2 (WWC2), mRNA. 1126 NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3) 32 all_lung(41;5.28e-14)|Lung NSC(41;1.35e-13)|Colorectal(36;0.00681)|Hepatocellular(41;0.00886)|Renal(120;0.00992)|Prostate(90;0.0237)|all_hematologic(60;0.0592)|Esophageal squamous(56;0.179)|all_neural(102;0.202) all cancers(43;3.38e-24)|Epithelial(43;1.4e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.09e-09)|GBM - Glioblastoma multiforme(59;3.33e-05)|Colorectal(24;3.58e-05)|STAD - Stomach adenocarcinoma(60;4.21e-05)|COAD - Colon adenocarcinoma(29;0.000171)|LUSC - Lung squamous cell carcinoma(40;0.0145)|READ - Rectum adenocarcinoma(43;0.242) GAAGCAAGCTGAGAAGCAGGT 0.522000 39 32 0 0 0.005524 0 0 RBP3 5949 broad.mit.edu 37 10 48389174 48389174 + Silent SNP G A A TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr10:48389174G>A uc001jez.3 - 0 1818 c.1704C>T c.(1702-1704)atC>atT p.I568I NM_002900 NP_002891 P10745 RET3_HUMAN Homo sapiens retinol binding protein 3, interstitial (RBP3), mRNA. 568 4 X approximate tandem repeats. lipid metabolic process|proteolysis|transport|visual perception interphotoreceptor matrix retinal binding|serine-type peptidase activity central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 59 Vitamin A(DB00162) TGCCCGCGGTGATCTCACCTA 0.667000 39 33 0 0 0.002836 0 0 CACNA1B 774 broad.mit.edu 37 9 140901302 140901302 + Silent SNP C T T TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr9:140901302C>T uc004cog.3 + 15 2203 c.2058C>T c.(2056-2058)tcC>tcT p.S686S CACNA1B_uc022bqn.1_Silent_p.S686S|CACNA1B_uc011mfd.2_Silent_p.S288S NM_000718 NP_000709 Q00975 CAC1B_HUMAN Homo sapiens calcium channel, voltage-dependent, N type, alpha 1B subunit (CACNA1B), transcript variant 1, mRNA. 686 membrane depolarization|synaptic transmission voltage-gated calcium channel complex ATP binding|protein C-terminus binding|voltage-gated calcium channel activity NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2) 80 all_cancers(76;0.166) OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476) Amlodipine(DB00381)|Gabapentin(DB00996) TGTTCTCGTCCTTTTACTTCA 0.557000 9 7 0 0 0.004482 0 0 ZP4 57829 broad.mit.edu 37 1 238050138 238050138 + Missense_Mutation SNP C T T TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr1:238050138C>T uc001hym.3 - 5 1059 c.772G>A c.(772-774)Gaa>Aaa p.E258K LOC100130331_uc010pyc.2_Intron NM_021186 NP_067009 Q12836 ZP4_HUMAN Homo sapiens zona pellucida glycoprotein 4 (ZP4), mRNA. 258 ZP. acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of T cell proliferation|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|protein kinase A signaling cascade|protein kinase C signaling cascade integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix acrosin binding|receptor activity breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 73 Ovarian(103;0.103) all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214) OV - Ovarian serous cystadenocarcinoma(106;0.00989) GCCACCAGTTCATTTTCATAT 0.468000 63 20 0 0 0.001216 0 0 LOC440040 440040 broad.mit.edu 37 11 49598421 49598421 + Silent SNP G A A TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr11:49598421G>A uc010rhy.2 + 1 1012 c.534G>A c.(532-534)agG>agA p.R178R LOC440040_uc009ymb.3_Silent_p.R178R Homo sapiens glutamate receptor, metabotropic 5 pseudogene (LOC440040), non-coding RNA. TAGTGAAGAGGTACAACTGGA 0.428000 23 11 0 0 0.000673 0 0 MAP3K1 4214 broad.mit.edu 37 5 56152577 56152577 + Splice_Site SNP G A A TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr5:56152577G>A uc003jqw.4 + 2 1134 c.633_splice c.e2+1 p.V211_splice NM_005921 NP_005912 Q13233 M3K1_HUMAN Homo sapiens mitogen-activated protein kinase kinase kinase 1 (MAP3K1), mRNA. 211 V -> VIQ (in SRXY6). MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|cellular response to mechanical stimulus|innate immune response|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway cytosol ATP binding|zinc ion binding NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1) 57 Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223) OV - Ovarian serous cystadenocarcinoma(10;6.08e-40) GAGGGCCTGTGGTAAGTGGCT 0.438000 25 11 0 0 0.000673 0 0 XIRP2 129446 broad.mit.edu 37 2 168100167 168100167 + Silent SNP A G G TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr2:168100167A>G uc002udx.3 + 8 2354 c.2265A>G c.(2263-2265)aaA>aaG p.K755K XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Silent_p.K580K|XIRP2_uc010fpq.3_Silent_p.K533K|XIRP2_uc010fpr.3_Intron NM_152381 NP_689594 A4UGR9 XIRP2_HUMAN Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA. 580 actin cytoskeleton organization cell junction actin binding NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 TGGAAATTAAAACTGTTCACA 0.353000 14 15 0 0 0.004007 0 0 FCER1A 2205 broad.mit.edu 37 1 159277548 159277548 + Silent SNP G A A TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr1:159277548G>A uc001ftq.3 + 5 697 c.600G>A c.(598-600)gaG>gaA p.E200E NM_002001 NP_001992 P12319 FCERA_HUMAN Homo sapiens Fc fragment of IgE, high affinity I, receptor for; alpha polypeptide (FCER1A), mRNA. 200 integral to plasma membrane autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(19)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 all_hematologic(112;0.0429) Benzylpenicilloyl Polylysine(DB00895)|Omalizumab(DB00043) CTCCGCGTGAGAAGTACTGGC 0.413000 36 16 0 0 0.004007 0 0 SPACA7 122258 broad.mit.edu 37 13 113055406 113055406 + Missense_Mutation SNP C T T TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr13:113055406C>T uc001vsd.2 + 4 422 c.373C>T c.(373-375)Cat>Tat p.H125Y NM_145248 NP_660291 Q96KW9 SPAC7_HUMAN Homo sapiens sperm acrosome associated 7 (SPACA7), mRNA. 125 extracellular region large_intestine(5)|lung(4)|skin(3)|urinary_tract(1) 13 tgcaaatctccatggcgatcc 0.418000 40 23 0 0 0.002780 0 0 SLC44A2 57153 broad.mit.edu 37 19 10748931 10748931 + Silent SNP C T T TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr19:10748931C>T uc002mpf.3 + 19 2008 c.1869C>T c.(1867-1869)caC>caT p.H623H SLC44A2_uc002mpe.4_Silent_p.H621H|SLC44A2_uc002mpg.1_Silent_p.H343H|SLC44A2_uc002mph.3_Silent_p.H172H|SLC44A2_uc002mpi.3_Silent_p.H39H NM_020428 NP_065161 Q8IWA5 CTL2_HUMAN Homo sapiens solute carrier family 44, member 2 (SLC44A2), transcript variant 1, mRNA. 623 positive regulation of I-kappaB kinase/NF-kappaB cascade integral to membrane|plasma membrane choline transmembrane transporter activity|signal transducer activity NS(1)|breast(3)|endometrium(5)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 27 Epithelial(33;8.7e-06)|all cancers(31;2.77e-05) Choline(DB00122) TCTTCACCCACCGTATCAGGA 0.498000 53 24 0 0 0.004656 0 0 CMAS 55907 broad.mit.edu 37 12 22215349 22215349 + Nonsense_Mutation SNP G A A TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr12:22215349G>A uc001rfm.3 + 6 1174 c.1095G>A c.(1093-1095)tgG>tgA p.W365* CMAS_uc001rfn.3_Non-coding_Transcript NM_018686 NP_061156 Q8NFW8 NEUA_HUMAN Homo sapiens cytidine monophosphate N-acetylneuraminic acid synthetase (CMAS), mRNA. 365 lipopolysaccharide biosynthetic process nucleus N-acylneuraminate cytidylyltransferase activity autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 24 GCCTGTGCTGGAAAGAAGTGG 0.358000 19 10 0 0 0.000673 0 0 CRKL 1399 broad.mit.edu 37 22 21288222 21288222 + Missense_Mutation SNP C T T TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr22:21288222C>T uc002ztf.2 + 1 976 c.467C>T c.(466-468)cCt>cTt p.P156L NM_005207 NP_005198 P46109 CRKL_HUMAN Homo sapiens v-crk sarcoma virus CT10 oncogene homolog (avian)-like (CRKL), mRNA. 156 SH3 1. JNK cascade|Ras protein signal transduction cytosol SH3/SH2 adaptor activity|protein tyrosine kinase activity|signal transducer activity p.P156H(2) endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7) 14 all_cancers(11;1.16e-25)|all_epithelial(7;3.37e-24)|Lung NSC(8;7.25e-16)|all_lung(8;1.37e-14)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.176) ATAGAGAAGCCTGAAGAACAG 0.483000 77 44 0 0 0.002522 0 0 AKT1 207 broad.mit.edu 37 14 105246551 105246551 + Missense_Mutation SNP C T T rs34409589 TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr14:105246551C>T uc001ypk.3 - 2 603 c.49G>A c.(49-51)Gag>Aag p.E17K AKT1_uc001ypl.3_Missense_Mutation_p.E17K|AKT1_uc010axa.3_Missense_Mutation_p.E17K|AKT1_uc001ypm.3_Missense_Mutation_p.E17K|AKT1_uc001ypn.3_Missense_Mutation_p.E17K|AKT1_uc010tyk.2_5'Flank NM_005163 NP_005154 P31749 AKT1_HUMAN Homo sapiens v-akt murine thymoma viral oncogene homolog 1 (AKT1), transcript variant 1, mRNA. 17 PH. E -> K (in breast cancer; also detected in colorectal and ovarian cancer; somatic mutation; alters the PH domain conformation; results in activation of the protein; alters the subcellular location of the protein to the plasma membrane). G-protein coupled receptor protein signaling pathway|T cell costimulation|activation of pro-apoptotic gene products|activation-induced cell death of T cells|endocrine pancreas development|glucose metabolic process|glycogen biosynthetic process|induction of apoptosis by intracellular signals|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|mRNA metabolic process|negative regulation of fatty acid beta-oxidation|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of protein kinase activity|nerve growth factor receptor signaling pathway|nitric oxide biosynthetic process|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of blood vessel endothelial cell migration|positive regulation of cell growth|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of establishment of protein localization in plasma membrane|positive regulation of fat cell differentiation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|positive regulation of nitric oxide biosynthetic process|positive regulation of nitric-oxide synthase activity|positive regulation of peptidyl-serine phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|protein autophosphorylation|protein import into nucleus, translocation|regulation of neuron projection development|regulation of translation|response to UV-A|response to fluid shear stress|response to heat cytosol|nucleoplasm|plasma membrane enzyme binding|identical protein binding|nitric-oxide synthase regulator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|protein serine/threonine kinase activity p.E17K(255) NS(3)|breast(97)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(7)|lung(10)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|thyroid(10)|urinary_tract(15) 176 all_cancers(154;3.77e-06)|all_lung(585;3.24e-07)|all_epithelial(191;3.45e-05)|all_neural(303;0.0459)|Melanoma(154;0.155) all cancers(16;0.000486)|OV - Ovarian serous cystadenocarcinoma(23;0.00647)|Epithelial(46;0.0153)|GBM - Glioblastoma multiforme(11;0.116) all cancers(159;0.0107)|OV - Ovarian serous cystadenocarcinoma(161;0.0132)|Epithelial(152;0.243) Adenosine triphosphate(DB00171)|Arsenic trioxide(DB01169) TTGATGTACTCCCCTACAGAC 0.612000 E17K(KU1919_URINARY_TRACT) 1 Mis """breast, colorectal, ovarian, NSCLC""" 21 11 0 0 0.000978 0 0 HNRNPA2B1 3181 broad.mit.edu 37 7 26236216 26236216 + Missense_Mutation SNP C T T TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr7:26236216C>T uc003sxr.4 - 5 790 c.574G>A c.(574-576)Gaa>Aaa p.E192K HNRNPA2B1_uc003sxs.4_Missense_Mutation_p.E180K NM_031243 NP_112533 P22626 ROA2_HUMAN Homo sapiens heterogeneous nuclear ribonucleoprotein A2/B1 (HNRNPA2B1), transcript variant B1, mRNA. 192 RNA transport catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm RNA binding|nucleotide binding|protein binding|single-stranded telomeric DNA binding HNRNPA2B1/ETV1(8) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 22 TCCTGCATTTCTTGTCTAGAC 0.343000 T ETV1 prostate 31 48 0 0 0.003610 0 0 AMHR2 269 broad.mit.edu 37 12 53818634 53818634 + Missense_Mutation SNP C T T TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr12:53818634C>T uc001scx.2 + 2 454 c.374C>T c.(373-375)cCt>cTt p.P125L AMHR2_uc009zmy.2_Missense_Mutation_p.P125L|AMHR2_uc021qyg.1_Missense_Mutation_p.P125L NM_020547 NP_065434 Q16671 AMHR2_HUMAN Homo sapiens anti-Mullerian hormone receptor, type II (AMHR2), transcript variant 1, mRNA. 125 Mullerian duct regression ATP binding|hormone binding|metal ion binding breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|skin(2) 34 Adenosine triphosphate(DB00171) CATCTGCCTCCTCCAGGGAGC 0.647000 87 40 0 0 0.003214 0 0 GTF2IRD1 9569 broad.mit.edu 37 7 73933929 73933929 + Missense_Mutation SNP G A A TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr7:73933929G>A uc003uaq.3 + 5 1189 c.796G>A c.(796-798)Gcc>Acc p.A266T GTF2IRD1_uc010lbq.3_Missense_Mutation_p.A298T|GTF2IRD1_uc003uap.3_Missense_Mutation_p.A266T|GTF2IRD1_uc003uar.1_Missense_Mutation_p.A266T NM_016328 NP_057412 Q9UHL9 GT2D1_HUMAN Homo sapiens GTF2I repeat domain containing 1 (GTF2IRD1), transcript variant 1, mRNA. 266 nucleus DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity p.A266T(2) NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(19)|ovary(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 49 CCCCAACCACGCCATCCGAGA 0.697000 65 20 0 0 0.001216 0 0 C7 730 broad.mit.edu 37 5 40981531 40981531 + Silent SNP G A A TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr5:40981531G>A uc003jmh.3 + 17 2502 c.2388G>A c.(2386-2388)gaG>gaA p.E796E NM_000587 NP_000578 P10643 CO7_HUMAN Homo sapiens complement component 7 (C7), mRNA. 796 Complement control factor I module 2. complement activation, alternative pathway|complement activation, classical pathway|cytolysis extracellular region|membrane attack complex Ovarian(839;0.0112) AAGCATCGGAGTGCGAGGAAG 0.522000 8 8 0 0 0.003080 0 0 PDGFRL 5157 broad.mit.edu 37 8 17486220 17486220 + Missense_Mutation SNP G A A TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr8:17486220G>A uc003wxr.3 + 4 1175 c.730G>A c.(730-732)Gtt>Att p.V244I NM_006207 NP_006198 Q15198 PGFRL_HUMAN Homo sapiens platelet-derived growth factor receptor-like (PDGFRL), mRNA. 244 extracellular region platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5) 9 Colorectal(111;0.0752) CCAGGGTGTGGTTTACTGCAG 0.562000 43 31 0 0 0.002445 0 0 MLPH 79083 broad.mit.edu 37 2 238449015 238449015 + Missense_Mutation SNP G A A TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr2:238449015G>A uc002vwt.3 + 9 1356 c.1129G>A c.(1129-1131)Gag>Aag p.E377K MLPH_uc002vws.3_Missense_Mutation_p.E234K|MLPH_uc010fyt.1_Missense_Mutation_p.E349K|MLPH_uc002vwu.3_Missense_Mutation_p.E349K|MLPH_uc002vwv.3_Missense_Mutation_p.E309K|MLPH_uc002vww.3_Missense_Mutation_p.E325K|MLPH_uc002vwx.3_Missense_Mutation_p.E233K NM_024101 NP_077006 Q9BV36 MELPH_HUMAN Homo sapiens melanophilin (MLPH), transcript variant 1, mRNA. 377 metal ion binding NS(1)|breast(3)|cervix(1)|endometrium(3)|large_intestine(2)|lung(11)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1) 25 Breast(86;0.000381)|Renal(207;0.000966)|Ovarian(221;0.0695)|all_hematologic(139;0.095)|all_lung(227;0.17)|Melanoma(123;0.203) Epithelial(121;1.17e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.02e-10)|Kidney(56;4.23e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.15e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000439)|Lung(119;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0316) AGTGCGCACGGAGGCCGATGT 0.617000 19 20 0 0 0.002780 0 0 MMP10 4319 broad.mit.edu 37 11 102650388 102650388 + Missense_Mutation SNP C T T TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr11:102650388C>T uc001phg.2 - 1 231 c.194G>A c.(193-195)gGa>gAa p.G65E NM_002425 NP_002416 P09238 MMP10_HUMAN Homo sapiens matrix metallopeptidase 10 (stromelysin 2) (MMP10), mRNA. 65 G -> R (in dbSNP:rs17293607). collagen catabolic process|proteolysis extracellular space|proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|liver(2)|lung(6) 22 all_epithelial(12;0.00961) all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) Epithelial(9;0.0303)|Lung(13;0.0828)|all cancers(10;0.116)|LUSC - Lung squamous cell carcinoma(19;0.151) BRCA - Breast invasive adenocarcinoma(274;0.0145) CTTCTGCATTCCTTGGATTTT 0.438000 12 11 0 0 0.000673 0 0 RRP8 23378 broad.mit.edu 37 11 6623270 6623270 + Missense_Mutation SNP C T T TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr11:6623270C>T uc001med.3 - 1 423 c.275G>A c.(274-276)gGg>gAg p.G92E ILK_uc001mee.3_5'Flank|ILK_uc001mef.3_5'Flank|ILK_uc010rap.2_5'Flank|ILK_uc010raq.2_5'Flank|ILK_uc001meh.3_5'Flank NM_015324 NP_056139 O43159 RRP8_HUMAN Homo sapiens ribosomal RNA processing 8, methyltransferase, homolog (yeast) (RRP8), mRNA. 92 chromatin modification|chromatin silencing at rDNA|rRNA processing|transcription, DNA-dependent chromatin silencing complex|nucleolus|rDNA heterochromatin S-adenosylmethionine-dependent methyltransferase activity|methylated histone residue binding endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2) 13 TTTCTTCTTCCCTTTCTTCCC 0.468000 42 24 0 0 0.002780 0 0 BRPF1 7862 broad.mit.edu 37 3 9785336 9785336 + Silent SNP C T T TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr3:9785336C>T uc003bse.3 + 7 2767 c.2368C>T c.(2368-2370)Ctg>Ttg p.L790L BRPF1_uc003bsf.3_Silent_p.L796L|BRPF1_uc003bsg.3_Silent_p.L789L|BRPF1_uc011ati.2_Silent_p.L790L NM_004634 NP_004625 P55201 BRPF1_HUMAN Homo sapiens bromodomain and PHD finger containing, 1 (BRPF1), transcript variant 2, mRNA. 790 Interaction with MEAF6 and ING5.|Required for RUNX1 and RUNX2 transcriptional activation. histone H3 acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent MOZ/MORF histone acetyltransferase complex|cytoplasm|plasma membrane DNA binding|zinc ion binding central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 49 Medulloblastoma(99;0.227) AAAGCTGCTTCTGGAGCGGCT 0.587000 23 16 0 0 0.004007 0 0 C4orf50 389197 broad.mit.edu 37 4 5961201 5961201 + RNA SNP G A A TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr4:5961201G>A uc003git.2 - 6 c.2030C>T Q6ZRC1 CD050_HUMAN Homo sapiens cDNA FLJ46481 fis, clone THYMU3025772. breast(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(2)|skin(3)|urinary_tract(1) 15 CTGGGCTCAGGAGCTCAGAGG 0.522000 64 17 0 0 0.001216 0 0 MSH5 4439 broad.mit.edu 37 6 31727959 31727959 + Missense_Mutation SNP C T T TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr6:31727959C>T uc003nwu.2 + 18 1906 c.1778C>T c.(1777-1779)cCc>cTc p.P593L MSH5_uc003nwx.2_Missense_Mutation_p.P610L|MSH5_uc003nwv.2_Missense_Mutation_p.P593L|MSH5_uc003nww.2_Missense_Mutation_p.P593L|MSH5_uc011dof.1_Missense_Mutation_p.P292L|MSH5_uc003nwy.1_Missense_Mutation_p.P267L|SAPCD1_uc003nwz.4_5'UTR NM_172165 NP_751897 O43196 MSH5_HUMAN Homo sapiens mutS homolog 5 (E. coli) (MSH5), transcript variant 2, mRNA. 593 chiasma assembly|homologous chromosome segregation|meiotic prophase II|mismatch repair|reciprocal meiotic recombination synaptonemal complex ATP binding|DNA-dependent ATPase activity|mismatched DNA binding breast(1)|ovary(2)|skin(2) 5 ATCACTGGACCCAACTCATCA 0.557000 Direct reversal of damage;Mismatch excision repair (MMR) 231 147 0 0 0.003610 0 0 PIK3R6 146850 broad.mit.edu 37 17 8739933 8739933 + Splice_Site SNP C T T TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr17:8739933C>T uc002glq.1 - 7 632 c.392_splice c.e7-1 p.G131_splice PIK3R6_uc002glr.1_Non-coding_Transcript|PIK3R6_uc002gls.1_Splice_Site NM_001010855 NP_001010855 Q5UE93 PI3R6_HUMAN Homo sapiens phosphoinositide-3-kinase, regulatory subunit 6 (PIK3R6), mRNA. 131 platelet activation cytosol GTACAGTGTCCCTGCAAACCA 0.522000 32 19 0 0 0.002780 0 0 NEXN 91624 broad.mit.edu 37 1 78383849 78383849 + Missense_Mutation SNP G A A TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr1:78383849G>A uc001dic.4 + 4 635 c.338G>A c.(337-339)aGa>aAa p.R113K NEXN_uc001dia.3_Missense_Mutation_p.R113K|NEXN_uc009wcb.1_Missense_Mutation_p.R49K|NEXN_uc001dib.4_Missense_Mutation_p.R49K|NEXN_uc001did.1_Missense_Mutation_p.R37K|NEXN_uc001dif.1_Missense_Mutation_p.R5K NM_144573 NP_653174 Q0ZGT2 NEXN_HUMAN Homo sapiens nexilin (F actin binding protein) (NEXN), transcript variant 1, mRNA. 113 Glu-rich. regulation of cell migration|regulation of cytoskeleton organization Z disc|cytoskeleton actin filament binding|structural constituent of muscle breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 30 Colorectal(170;0.114) GAGAAACAAAGACAAGAGGAA 0.338000 28 19 0 0 0.001523 0 0 EXOC6B 23233 broad.mit.edu 37 2 72802653 72802653 + Silent SNP G A A TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr2:72802653G>A uc010fep.3 - 6 952 c.814C>T c.(814-816)Ctg>Ttg p.L272L EXOC6B_uc002sij.2_Silent_p.L272L NM_015189 NP_056004 Q9Y2D4 EXC6B_HUMAN Homo sapiens exocyst complex component 6B (EXOC6B), mRNA. 272 protein transport|vesicle docking involved in exocytosis exocyst breast(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3) 10 TCAACATCCAGAATTCCTGAA 0.358000 46 22 0 0 0.003330 0 0 CNTLN 54875 broad.mit.edu 37 9 17409438 17409438 + Silent SNP G A A TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr9:17409438G>A uc003zmz.2 + 15 2786 c.2760G>A c.(2758-2760)caG>caA p.Q920Q CNTLN_uc003zmy.3_Silent_p.Q921Q|CNTLN_uc010mio.3_Silent_p.Q600Q NM_017738 NP_060208 Q9NXG0 CNTLN_HUMAN Homo sapiens centlein, centrosomal protein (CNTLN), transcript variant 1, mRNA. 921 centriole|membrane two-component sensor activity breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 53 GBM - Glioblastoma multiforme(50;6.14e-10) AAATAGTACAGACATATTTAA 0.318000 100 50 0 0 0.003610 0 0 PTPRR 5801 broad.mit.edu 37 12 71139615 71139615 + Silent SNP G A A TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr12:71139615G>A uc001swi.2 - 5 1404 c.990C>T c.(988-990)ccC>ccT p.P330P PTPRR_uc001swh.2_Silent_p.P85P|PTPRR_uc009zrs.3_Silent_p.P124P|PTPRR_uc010stq.2_Silent_p.P218P|PTPRR_uc010str.1_Silent_p.P179P NM_002849 NP_570897 Q15256 PTPRR_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, R (PTPRR), transcript variant 1, mRNA. 330 in utero embryonic development Golgi apparatus|cell surface|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 41 GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132) COAD - Colon adenocarcinoma(1;0.136) GAAGTCCTATGGGCTTCATTT 0.428000 20 15 0 0 0.004990 0 0 POLD1 5424 broad.mit.edu 37 19 50918994 50918994 + Missense_Mutation SNP G A A TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr19:50918994G>A uc010eny.3 + 20 2810 c.2809G>A c.(2809-2811)Gac>Aac p.D937N POLD1_uc002psb.4_Missense_Mutation_p.D911N|POLD1_uc002psc.4_Missense_Mutation_p.D911N|POLD1_uc010enx.3_Intron NM_002691 NP_002682 P28340 DPOD1_HUMAN Homo sapiens polymerase (DNA directed), delta 1, catalytic subunit 125kDa (POLD1), mRNA. 911 DNA replication proofreading|DNA replication, removal of RNA primer|DNA synthesis involved in DNA repair|S phase of mitotic cell cycle|base-excision repair, gap-filling|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|response to UV|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair delta DNA polymerase complex|nucleoplasm|nucleotide-excision repair complex 3'-5'-exodeoxyribonuclease activity|DNA binding|DNA-directed DNA polymerase activity|chromatin binding|metal ion binding|nucleotide binding|protein binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 all_neural(266;0.0571) OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195) GAGGAAGCGGGACCCCGGGAG 0.706000 DNA polymerases (catalytic subunits) 4 4 0 0 0.000602 0 0 KIF1B 23095 broad.mit.edu 37 1 10394662 10394662 + Silent SNP G A A TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr1:10394662G>A uc001aqx.4 + 27 3211 c.3009G>A c.(3007-3009)cgG>cgA p.R1003R KIF1B_uc001aqw.4_Silent_p.R957R|KIF1B_uc001aqy.3_Silent_p.R977R|KIF1B_uc001aqz.3_Silent_p.R1003R|KIF1B_uc001ara.3_Silent_p.R963R|KIF1B_uc001arb.3_Silent_p.R989R NM_015074 NP_055889 O60333 KIF1B_HUMAN Homo sapiens kinesin family member 1B (KIF1B), transcript variant 1, mRNA. 1003 anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2) 71 Ovarian(185;0.203) all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642) GTGAAGTGCGGGGATTTCTGC 0.512000 49 35 0 0 0.004878 0 0 COL14A1 7373 broad.mit.edu 37 8 121219307 121219307 + Missense_Mutation SNP C T T TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr8:121219307C>T uc003yox.3 + 9 1430 c.1165C>T c.(1165-1167)Cct>Tct p.P389S COL14A1_uc003yoy.3_Missense_Mutation_p.P67S|COL14A1_uc010mde.1_Missense_Mutation_p.P67S NM_021110 NP_066933 Q05707 COEA1_HUMAN Homo sapiens collagen, type XIV, alpha 1 (COL14A1), mRNA. 389 Fibronectin type-III 2. cell-cell adhesion|collagen fibril organization collagen type XIV|extracellular space collagen binding|extracellular matrix structural constituent|protein binding, bridging NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2) 119 Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161) OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503) TGTGTATTATCCTACCAGGGG 0.413000 32 10 0 0 0.000978 0 0 RANBP17 64901 broad.mit.edu 37 5 170345765 170345765 + Missense_Mutation SNP C T T TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr5:170345765C>T uc003mba.3 + 9 1145 c.1003C>T c.(1003-1005)Cgt>Tgt p.R335C RANBP17_uc003max.2_Non-coding_Transcript|RANBP17_uc003may.2_Non-coding_Transcript|RANBP17_uc003maz.2_Non-coding_Transcript|RANBP17_uc010jjr.2_Non-coding_Transcript NM_022897 NP_075048 Q9H2T7 RBP17_HUMAN Homo sapiens RAN binding protein 17 (RANBP17), mRNA. 335 mRNA transport|protein import into nucleus|transmembrane transport cytoplasm|nuclear pore GTP binding|protein transporter activity breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 50 Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) ATTTTTGGCTCGTTTAAAGAC 0.338000 T TRD@ ALL 16 12 0 0 0.000978 0 0 RP1L1 94137 broad.mit.edu 37 8 10469909 10469909 + Missense_Mutation SNP C T T TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr8:10469909C>T uc003wtc.3 - 3 1928 c.1699G>A c.(1699-1701)Gag>Aag p.E567K NM_178857 NP_849188 A6NKC6 A6NKC6_HUMAN Homo sapiens retinitis pigmentosa 1-like 1 (RP1L1), mRNA. 567 intracellular signal transduction breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3) 148 COAD - Colon adenocarcinoma(149;0.0811) TCGCTGGCCTCCTGCTGAGAG 0.652000 84 59 0 0 0.003610 0 0 ARHGAP36 158763 broad.mit.edu 37 X 130218305 130218305 + Silent SNP G A A TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chrX:130218305G>A uc004evz.3 + 4 1017 c.672G>A c.(670-672)agG>agA p.R224R ARHGAP36_uc004ewa.3_Silent_p.R212R|ARHGAP36_uc004ewb.3_Silent_p.R193R|ARHGAP36_uc004ewc.3_Silent_p.R88R NM_144967 NP_659404 Q6ZRI8 RHG36_HUMAN Homo sapiens Rho GTPase activating protein 36 (ARHGAP36), mRNA. 224 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2) 71 GATCCAAAAGGAAGATGAGTC 0.478000 6 21 0 0 0.002780 0 0 NPAS1 4861 broad.mit.edu 37 19 47535937 47535937 + Missense_Mutation SNP G A A TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr19:47535937G>A uc002pfw.3 + 4 665 c.469G>A c.(469-471)Gga>Aga p.G157R NPAS1_uc002pfy.3_Missense_Mutation_p.G157R|NPAS1_uc010xyj.2_5'Flank NM_002517 NP_002508 Q99742 NPAS1_HUMAN Homo sapiens neuronal PAS domain protein 1 (NPAS1), mRNA. 157 PAS 1. central nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity endometrium(2)|kidney(1)|large_intestine(2)|lung(1) 6 all_cancers(25;4.31e-08)|all_epithelial(76;2.96e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.102) all cancers(93;6.02e-05)|OV - Ovarian serous cystadenocarcinoma(262;7.35e-05)|Epithelial(262;0.00389)|GBM - Glioblastoma multiforme(486;0.0252) GAACCAGGAAGGAAAATTCCT 0.577000 OREG0025585 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 50 30 0 0 0.002445 0 0 BMP6 654 broad.mit.edu 37 6 7727651 7727651 + Missense_Mutation SNP G A A TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr6:7727651G>A uc003mxu.4 + 0 641 c.463G>A c.(463-465)Ggg>Agg p.G155R NM_001718 NP_001709 P22004 BMP6_HUMAN Homo sapiens bone morphogenetic protein 6 (BMP6), mRNA. 155 BMP signaling pathway|SMAD protein signal transduction|cartilage development|growth|immune response|positive regulation of aldosterone biosynthetic process|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription from RNA polymerase II promoter extracellular space BMP receptor binding|cytokine activity|growth factor activity|protein heterodimerization activity breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(6)|ovary(1)|prostate(1) 23 Ovarian(93;0.0721) GGCGTCGGAGGGGGAGAGGCA 0.716000 16 6 0 0 0.003080 0 0 C12orf40 283461 broad.mit.edu 37 12 40020150 40020150 + Silent SNP C T T TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr12:40020150C>T uc001rmc.3 + 0 179 c.12C>T c.(10-12)gtC>gtT p.V4V C12orf40_uc009zjv.1_Non-coding_Transcript NM_001031748 NP_001026918 Q86WS4 CL040_HUMAN Homo sapiens chromosome 12 open reading frame 40 (C12orf40), mRNA. 4 p.V4V(2) breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(6)|prostate(1)|skin(2) 38 TGAATTGGGTCGGGGGGTCCC 0.542000 30 11 0 0 0.001368 0 0 DNAH7 56171 broad.mit.edu 37 2 196825299 196825299 + Missense_Mutation SNP G A A TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr2:196825299G>A uc002utj.4 - 17 2677 c.2576C>T c.(2575-2577)gCc>gTc p.A859V NM_018897 NP_061720 Q8WXX0 DYH7_HUMAN Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA. 859 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3) 205 ACCAACAATGGCAGACATGGC 0.443000 47 33 0 0 0.002836 0 0 C1orf173 127254 broad.mit.edu 37 1 75065536 75065536 + Missense_Mutation SNP C T T TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr1:75065536C>T uc001dgg.3 - 10 1788 c.1569G>A c.(1567-1569)atG>atA p.M523I CR627203_uc001dgh.3_Intron|C1orf173_uc001dgi.4_Missense_Mutation_p.M317I NM_001002912 NP_001002912 Q5RHP9 CA173_HUMAN Homo sapiens chromosome 1 open reading frame 173 (C1orf173), mRNA. 523 Glu-rich. NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5) 184 GTATTCCATTCATTTGAACAT 0.393000 38 17 0 0 0.004990 0 0 RING1 6015 broad.mit.edu 37 6 33177517 33177517 + Missense_Mutation SNP C T T TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr6:33177517C>T uc003odk.3 + 2 387 c.193C>T c.(193-195)Ctc>Ttc p.L65F RING1_uc011dqx.1_Missense_Mutation_p.L65F|RING1_uc003odl.3_Missense_Mutation_p.L36F NM_002931 NP_002922 Q06587 RING1_HUMAN Homo sapiens ring finger protein 1 (RING1), mRNA. 65 Necessary for transcriptional repression (By similarity). histone H2A monoubiquitination|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent PcG protein complex|cytoplasm|nuclear speck protein binding|zinc ion binding endometrium(5)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|skin(4) 17 CAAGGAGTGCCTCCACAGATT 0.512000 47 23 0 0 0.002299 0 0 NR1D2 9975 broad.mit.edu 37 3 24006538 24006538 + Missense_Mutation SNP C T T TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr3:24006538C>T uc003ccs.2 + 5 1536 c.1217C>T c.(1216-1218)tCg>tTg p.S406L NR1D2_uc010hfd.2_Non-coding_Transcript|NR1D2_uc011awk.1_Missense_Mutation_p.S331L NM_005126 NP_001138897 Q14995 NR1D2_HUMAN Homo sapiens nuclear receptor subfamily 1, group D, member 2 (NR1D2), transcript variant 1, mRNA. 406 regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding p.S406L(2) NS(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2) 22 GAAGAATTTTCGATGAGCTTC 0.403000 54 43 0 0 0.003610 0 0 CLCN1 1180 broad.mit.edu 37 7 143016940 143016940 + Silent SNP G A A TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr7:143016940G>A uc003wcr.1 + 1 360 c.273G>A c.(271-273)aaG>aaA p.K91K CLCN1_uc011ktc.1_5'UTR|CLCN1_uc003wcs.1_5'Flank|CLCN1_uc010lox.1_5'Flank|CLCN1_uc010loy.1_5'Flank NM_000083 NP_000074 P35523 CLCN1_HUMAN Homo sapiens chloride channel 1, skeletal muscle (CLCN1), mRNA. 91 muscle contraction chloride channel complex|integral to plasma membrane voltage-gated chloride channel activity breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2) 58 Melanoma(164;0.205) TGGACAGCAAGGATGAGGATC 0.458000 119 38 0 0 0.002222 0 0 CSMD3 114788 broad.mit.edu 37 8 113418828 113418828 + Missense_Mutation SNP C T T TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr8:113418828C>T uc003ynu.3 - 34 5893 c.5734G>A c.(5734-5736)Gga>Aga p.G1912R CSMD3_uc003yns.3_Missense_Mutation_p.G1114R|CSMD3_uc003ynt.3_Missense_Mutation_p.G1872R|CSMD3_uc011lhx.2_Missense_Mutation_p.G1808R NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA. 1912 Sushi 10. integral to membrane|plasma membrane p.G1912L(2)|p.G1912*(2)|p.G1912V(1)|p.G1872*(1)|p.G1872L(1) breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 GCTATGGATCCATGGAGAATA 0.393000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 37 15 0 0 0.004990 0 0 GPR158 57512 broad.mit.edu 37 10 25886955 25886955 + Silent SNP G A A TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr10:25886955G>A uc001isj.3 + 10 2460 c.2400G>A c.(2398-2400)ggG>ggA p.G800G GPR158_uc001isk.3_Silent_p.G175G NM_020752 NP_065803 Q5T848 GP158_HUMAN Homo sapiens G protein-coupled receptor 158 (GPR158), mRNA. 800 integral to membrane|plasma membrane G-protein coupled receptor activity breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 119 GGAACACAGGGAAATCCAAGG 0.547000 40 25 0 0 0.004656 0 0 MYBL2 4605 broad.mit.edu 37 20 42331391 42331391 + Missense_Mutation SNP A G G TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr20:42331391A>G uc002xlb.1 + 7 1428 c.1213A>G c.(1213-1215)Aca>Gca p.T405A MYBL2_uc010zwj.1_Missense_Mutation_p.T381A NM_002466 NP_002457 P10244 MYBB_HUMAN Homo sapiens v-myb myeloblastosis viral oncogene homolog (avian)-like 2 (MYBL2), mRNA. 405 nucleus DNA binding|sequence-specific DNA binding transcription factor activity endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 46 Myeloproliferative disorder(115;0.00452) COAD - Colon adenocarcinoma(18;0.0031) TGGCATTGGCACACCGCCCTC 0.627000 30 16 0 0 0.004990 0 0 FCGBP 8857 broad.mit.edu 37 19 40411909 40411909 + Missense_Mutation SNP C T T TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr19:40411909C>T uc002omp.4 - 6 3727 c.3719G>A c.(3718-3720)gGc>gAc p.G1240D NM_003890 NP_003881 Q9Y6R7 FCGBP_HUMAN Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA. 1240 extracellular region protein binding p.G1240R(1) NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3) 165 all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06) Epithelial(26;6.25e-23)|all cancers(26;1.13e-20) GCCCAAGCTGCCACCGGATGG 0.677000 40 23 0 0 0.003330 0 0 TRAK1 22906 broad.mit.edu 37 3 42243935 42243935 + Missense_Mutation SNP G A A TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr3:42243935G>A uc003cky.3 + 12 1651 c.1435G>A c.(1435-1437)Gag>Aag p.E479K TRAK1_uc011azh.2_Missense_Mutation_p.E479K|TRAK1_uc011azi.2_Missense_Mutation_p.E479K|TRAK1_uc003ckz.4_Missense_Mutation_p.E405K|TRAK1_uc011azj.2_Missense_Mutation_p.E405K|TRAK1_uc003cla.3_Missense_Mutation_p.E421K NM_001042646 NP_001036111 Q9UPV9 TRAK1_HUMAN Homo sapiens trafficking protein, kinesin binding 1 (TRAK1), transcript variant 1, mRNA. 479 Interaction with HGS. endosome to lysosome transport|protein O-linked glycosylation|protein targeting|regulation of transcription from RNA polymerase II promoter early endosome|mitochondrion|nucleus central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2) 22 CAGAAACGATGAGCGGAGTAA 0.652000 33 17 0 0 0.001216 0 0 IL27 246778 broad.mit.edu 37 16 28511060 28511061 + Missense_Mutation DNP GA AT AT TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr16:28511060_28511061GA>AT uc002dqc.3 - 4 666_667 c.643_644TC>AT c.(643-645)tct>ATt p.S215I NPIPL1_uc010vct.2_Intron NM_145659 NP_663634 Q8NEV9 IL27A_HUMAN Homo sapiens interleukin 27 (IL27), mRNA. 215 inflammatory response|innate immune response|positive regulation of interferon-gamma biosynthetic process|regulation of T cell proliferation|regulation of T-helper 1 cell differentiation|regulation of defense response to virus extracellular space cytokine activity|interleukin-27 receptor binding endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1) 10 CACGGCCCGAGATAAGACGAGC 0.668000 16 9 0 0 0.004672 0 0 SNRNP200 23020 broad.mit.edu 37 2 96963187 96963187 + Missense_Mutation SNP G A A TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr2:96963187G>A uc002svu.3 - 10 1423 c.1291C>T c.(1291-1293)Cct>Tct p.P431S NM_014014 NP_054733 O75643 U520_HUMAN Homo sapiens small nuclear ribonucleoprotein 200kDa (U5) (SNRNP200), mRNA. 431 U5 snRNP|catalytic step 2 spliceosome|nucleoplasm ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1) 90 GATCCATCAGGAAGCTGACAG 0.532000 38 10 0 0 0.000673 0 0 CLU 1191 broad.mit.edu 37 8 27462838 27462838 + Silent SNP C T T TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr8:27462838C>T uc003xfy.2 - 4 612 c.465G>A c.(463-465)ctG>ctA p.L155L CLU_uc003xfw.2_Silent_p.L144L|CLU_uc003xfx.2_Silent_p.L144L|CLU_uc003xfz.2_Silent_p.L144L NM_001831 NP_001822 P10909 CLUS_HUMAN Homo sapiens clusterin (CLU), transcript variant 1, mRNA. 144 chaperone-mediated protein folding|complement activation, classical pathway|innate immune response|lipid metabolic process|negative regulation of apoptosis|negative regulation of protein homooligomerization|platelet activation|platelet degranulation|positive regulation of NF-kappaB transcription factor activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|response to misfolded protein|response to virus|reverse cholesterol transport chromaffin granule|cytosol|endoplasmic reticulum|microsome|mitochondrial membrane|nucleus|perinuclear region of cytoplasm|platelet alpha granule lumen|spherical high-density lipoprotein particle misfolded protein binding|ubiquitin protein ligase binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2) 21 Ovarian(32;2.61e-05) UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|Colorectal(74;0.132) AGCTCTGGTTCAGGAACTCCT 0.617000 21 8 0 0 0.006214 0 0 FAM55A 120400 broad.mit.edu 37 11 114393070 114393070 + Missense_Mutation SNP C T T TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr11:114393070C>T uc001ppa.3 - 5 1255 c.838G>A c.(838-840)Gaa>Aaa p.E280K FAM55A_uc010rxd.2_Missense_Mutation_p.E129K NM_152315 NP_689528 Q8N323 FA55A_HUMAN Homo sapiens family with sequence similarity 55, member A (FAM55A), mRNA. 422 extracellular region breast(1)|endometrium(1)|large_intestine(2)|lung(10)|stomach(1)|upper_aerodigestive_tract(2) 17 all_cancers(61;8.53e-16)|all_epithelial(67;1.71e-08)|all_hematologic(158;3.05e-05)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0194)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906) BRCA - Breast invasive adenocarcinoma(274;3.02e-06)|Epithelial(105;0.000144)|all cancers(92;0.00106) CGGTCAATTTCCCGAGGGATA 0.438000 50 29 0 0 0.003271 0 0 COL13A1 1305 broad.mit.edu 37 10 71707089 71707089 + Silent SNP G A A TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr10:71707089G>A uc001jql.3 + 36 2552 c.2016G>A c.(2014-2016)aaG>aaA p.K672K COL13A1_uc021prz.1_Silent_p.K623K|COL13A1_uc021psa.1_Silent_p.K600K|COL13A1_uc021psb.1_Silent_p.K594K|COL13A1_uc001jqk.2_Silent_p.K650K|COL13A1_uc021psc.1_Silent_p.K641K|COL13A1_uc021psd.1_Silent_p.K623K|COL13A1_uc010qjf.2_Silent_p.K600K|COL13A1_uc021pse.1_Silent_p.K594K|COL13A1_uc021psf.1_Silent_p.K672K|COL13A1_uc021psg.1_Silent_p.K650K|COL13A1_uc021psh.1_Silent_p.K641K NM_001130103 NP_001123575 Q5TAT6 CODA1_HUMAN Homo sapiens collagen, type XIII, alpha 1 (COL13A1), transcript variant 1, mRNA. 672 Triple-helical region 3 (COL3). cell differentiation|cell-cell adhesion|cell-matrix adhesion|endochondral ossification|morphogenesis of a branching structure collagen type XIII|integral to membrane extracellular matrix structural constituent|heparin binding|protein binding endometrium(5)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 28 Atorvastatin(DB01076)|Simvastatin(DB00641) CCGGGGACAAGGGAAACCGGG 0.527000 34 15 0 0 0.006122 0 0 FAM170A 340069 broad.mit.edu 37 5 118970010 118970010 + Silent SNP G A A TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr5:118970010G>A uc003ksm.2 + 2 777 c.567G>A c.(565-567)ggG>ggA p.G189G FAM170A_uc003ksl.2_Intron|FAM170A_uc003ksn.3_Silent_p.G189G|FAM170A_uc003kso.3_Silent_p.G142G NM_182761 NP_877438 A1A519 F170A_HUMAN Homo sapiens family with sequence similarity 170, member A (FAM170A), transcript variant 1, mRNA. 189 intracellular zinc ion binding breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 24 AGCCCAGTGGGGAGGAGAAAG 0.562000 58 36 0 0 0.004878 0 0 RXFP2 122042 broad.mit.edu 37 13 32339209 32339209 + Missense_Mutation SNP G A A TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr13:32339209G>A uc001utt.3 + 3 426 c.355G>A c.(355-357)Gaa>Aaa p.E119K RXFP2_uc010aba.3_Missense_Mutation_p.E119K NM_130806 NP_570718 Q8WXD0 RXFP2_HUMAN Homo sapiens relaxin/insulin-like family peptide receptor 2 (RXFP2), transcript variant 1, mRNA. 119 integral to membrane|plasma membrane cervix(1)|endometrium(2)|large_intestine(15)|lung(13)|prostate(1)|stomach(1) 33 Lung SC(185;0.0262) all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535) TGACTGCAAAGAAACTGAATT 0.318000 23 16 0 0 0.004990 0 0 ZNF845 91664 broad.mit.edu 37 19 53856226 53856226 + Silent SNP G A A TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr19:53856226G>A uc010ydv.1 + 3 2415 c.2298G>A c.(2296-2298)agG>agA p.R766R ZNF845_uc010ydw.1_Silent_p.R766R NM_138374 NP_612383 Q96IR2 ZN845_HUMAN Homo sapiens zinc finger protein 845 (ZNF845), mRNA. 766 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2) 26 AAAAACACAGGAGAATTCATA 0.403000 16 14 0 0 0.001855 0 0 CCDC53 51019 broad.mit.edu 37 12 102439876 102439876 + Missense_Mutation SNP G A A TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr12:102439876G>A uc010svw.2 - 2 331 c.172C>T c.(172-174)Cgt>Tgt p.R58C NM_016053 NP_057137 Q9Y3C0 CCD53_HUMAN Homo sapiens coiled-coil domain containing 53 (CCDC53), mRNA. 58 WASH complex protein binding p.R58C(2) endometrium(1)|kidney(1)|large_intestine(1)|lung(1) 4 TGTTGGATACGAAGTGAAAGG 0.294000 7 6 0 0 0.004482 0 0 KIAA0494 9813 broad.mit.edu 37 1 47155265 47155265 + Silent SNP C T T TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr1:47155265C>T uc001cqk.4 - 5 1766 c.789G>A c.(787-789)ttG>ttA p.L263L KIAA0494_uc010omh.1_Silent_p.L263L|LOC100130197_uc021ond.1_Intron|LOC100130197_uc021one.1_Intron|KIAA0494_uc010omj.2_Silent_p.L119L NM_014774 NP_055589 O75071 K0494_HUMAN Homo sapiens KIAA0494 (KIAA0494), mRNA. 263 calcium ion binding endometrium(1)|large_intestine(1)|lung(4)|prostate(1) 7 Acute lymphoblastic leukemia(166;0.155) GCACCTGTTTCAAATTCTCAC 0.468000 35 16 0 0 0.006122 0 0 ATXN3 4287 broad.mit.edu 37 14 92559603 92559603 + Missense_Mutation SNP C T T TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr14:92559603C>T uc021rzo.1 - 4 449 c.380G>A c.(379-381)gGa>gAa p.G127E ATXN3_uc021ryv.1_Non-coding_Transcript|ATXN3_uc010twl.2_5'UTR|ATXN3_uc021ryw.1_Non-coding_Transcript|ATXN3_uc021ryx.1_Missense_Mutation_p.G57E|ATXN3_uc021ryy.1_Intron|ATXN3_uc021ryz.1_Intron|ATXN3_uc021rza.1_Missense_Mutation_p.G127E|ATXN3_uc021rzb.1_Non-coding_Transcript|ATXN3_uc021rzc.1_Intron|ATXN3_uc021rzd.1_Intron|ATXN3_uc021rze.1_Intron|ATXN3_uc021rzf.1_Intron|ATXN3_uc021rzg.1_Non-coding_Transcript|ATXN3_uc021rzh.1_Non-coding_Transcript|ATXN3_uc021rzi.1_Intron|ATXN3_uc021rzj.1_Intron|ATXN3_uc021rzk.1_Non-coding_Transcript|ATXN3_uc021rzl.1_Non-coding_Transcript|ATXN3_uc001yac.4_Missense_Mutation_p.G127E|ATXN3_uc021rzm.1_Intron|ATXN3_uc001yae.4_Missense_Mutation_p.G29E|ATXN3_uc021rzn.1_Non-coding_Transcript|ATXN3_uc021ryo.1_Non-coding_Transcript|ATXN3_uc021ryp.1_Non-coding_Transcript|ATXN3_uc021ryq.1_Non-coding_Transcript|ATXN3_uc001yad.4_Missense_Mutation_p.G72E|ATXN3_uc021ryr.1_Non-coding_Transcript|ATXN3_uc021rys.1_Missense_Mutation_p.G29E|ATXN3_uc021ryt.1_Intron|ATXN3_uc021ryu.1_Intron|ATXN3_uc010aug.3_Missense_Mutation_p.G112E|ATXN3_uc021rzp.1_Missense_Mutation_p.G29E|ATXN3_uc021rzz.1_Non-coding_Transcript|ATXN3_uc021saa.1_Non-coding_Transcript|ATXN3_uc021sab.1_Missense_Mutation_p.G127E|ATXN3_uc021sac.1_Intron|ATXN3_uc021sad.1_Non-coding_Transcript|ATXN3_uc021sae.1_Missense_Mutation_p.G126E|ATXN3_uc021saf.1_Missense_Mutation_p.G29E|ATXN3_uc021sag.1_Intron|ATXN3_uc021sah.1_Missense_Mutation_p.G72E|ATXN3_uc021sai.1_Missense_Mutation_p.G29E|ATXN3_uc021saj.1_Non-coding_Transcript|ATXN3_uc021sak.1_Intron|ATXN3_uc021sal.1_Missense_Mutation_p.G29E|ATXN3_uc021sam.1_Intron|ATXN3_uc021san.1_Intron|ATXN3_uc021sao.1_Intron|ATXN3_uc021sap.1_Non-coding_Transcript|ATXN3_uc021saq.1_Non-coding_Transcript|ATXN3_uc021sar.1_Intron|ATXN3_uc021sas.1_Intron|ATXN3_uc021sat.1_Non-coding_Transcript|ATXN3_uc021sau.1_Intron|ATXN3_uc021rzq.1_Non-coding_Transcript|ATXN3_uc021rzr.1_Non-coding_Transcript|ATXN3_uc021rzs.1_Non-coding_Transcript|ATXN3_uc021rzt.1_Non-coding_Transcript|ATXN3_uc021rzu.1_Intron|ATXN3_uc021rzv.1_Missense_Mutation_p.G82E|ATXN3_uc021rzw.1_Non-coding_Transcript|ATXN3_uc021rzx.1_Non-coding_Transcript|ATXN3_uc021rzy.1_Non-coding_Transcript|ATXN3_uc021sav.1_Intron NM_004993 NP_004984 P54252 ATX3_HUMAN Homo sapiens ataxin 3 (ATXN3), transcript variant reference, mRNA. 127 Josephin. cell death|nervous system development|nucleotide-excision repair|regulation of transcription, DNA-dependent|synaptic transmission|transcription, DNA-dependent cytoplasm|nuclear matrix|nucleoplasm cysteine-type peptidase activity|protein binding endometrium(2)|large_intestine(1)|lung(7)|prostate(1)|stomach(1) 12 all_cancers(154;0.0768) COAD - Colon adenocarcinoma(157;0.224) TACCTGTTTTCCTAATTTTCT 0.313000 12 4 0 0 0.000602 0 0 DNA2 1763 broad.mit.edu 37 10 70192195 70192195 + Silent SNP G A A TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr10:70192195G>A uc021pru.1 - 10 1977 c.1977C>T c.(1975-1977)acC>acT p.T659T DNA2_uc021prt.1_Silent_p.T659T|DNA2_uc021prv.1_5'Flank|DNA2_uc001jog.2_Silent_p.T573T|DNA2_uc001joh.2_Non-coding_Transcript NM_001080449 NP_001073918 P51530 DNA2L_HUMAN Homo sapiens DNA replication helicase 2 homolog (yeast) (DNA2), mRNA. 573 DNA replication, removal of RNA primer|S phase of mitotic cell cycle|base-excision repair|mitochondrial DNA repair|mitochondrial DNA replication|positive regulation of DNA replication|telomere maintenance via recombination|telomere maintenance via semi-conservative replication mitochondrial nucleoid|nucleoplasm 5'-flap endonuclease activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|site-specific endodeoxyribonuclease activity, specific for altered base breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(7)|prostate(1) 20 TTCCTAATGGGGTATCTATAT 0.313000 11 4 0 0 0.000602 0 0 PCDHAC2 56134 broad.mit.edu 37 5 140346978 140346978 + Silent SNP G A A TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr5:140346978G>A uc003lii.3 + 0 1232 c.627G>A c.(625-627)ctG>ctA p.L209L PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc003lic.2_Intron|PCDHAC2_uc003lif.2_Intron|PCDHAC2_uc003lie.1_Intron|PCDHAC2_uc003lih.2_Intron|PCDHAC2_uc011dag.2_Silent_p.L209L NM_018899 NP_061722 Q9Y5I4 PCDC2_HUMAN Homo sapiens protocadherin alpha subfamily C, 2 (PCDHAC2), transcript variant 1, mRNA. 209 Cadherin 2. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 45 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGCTTGAGCTGGTGCTGCGTA 0.627000 12 19 0 0 0.006122 0 0 SCG3 29106 broad.mit.edu 37 15 51975628 51975628 + Nonsense_Mutation SNP C T T TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr15:51975628C>T uc002abh.3 + 3 797 c.394C>T c.(394-396)Caa>Taa p.Q132* SCG3_uc010ufz.2_5'UTR NM_013243 NP_001158729 Q8WXD2 SCG3_HUMAN Homo sapiens secretogranin III (SCG3), transcript variant 1, mRNA. 132 platelet activation|platelet degranulation extracellular region|stored secretory granule breast(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 all cancers(107;0.00488) TCATAAATTTCAAGGTAAATG 0.289000 19 38 0 0 0.004878 0 0 FAM26D 221301 broad.mit.edu 37 6 116879226 116879226 + Missense_Mutation SNP T A A TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr6:116879226T>A uc003pxa.3 + 3 667 c.368T>A c.(367-369)aTt>aAt p.I123N FAM26D_uc003pwz.3_Missense_Mutation_p.I80N|FAM26D_uc010ked.3_Missense_Mutation_p.I122N|FAM26D_uc021zed.1_Missense_Mutation_p.I80N NM_153036 NP_694581 Q5JW98 FA26D_HUMAN Homo sapiens family with sequence similarity 26, member D (FAM26D), mRNA. 266 integral to membrane endometrium(1)|lung(5) 6 all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234) GBM - Glioblastoma multiforme(226;0.0258)|all cancers(137;0.0458)|OV - Ovarian serous cystadenocarcinoma(136;0.0694)|Epithelial(106;0.222) CACATCCGCATTCCTTCTTGT 0.468000 57 52 0 0 0.003610 0 0 SIM1 6492 broad.mit.edu 37 6 100895166 100895166 + Missense_Mutation SNP C T T rs41285857 by1000genomes TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr6:100895166C>T uc003pqj.4 - 7 1443 c.976G>A c.(976-978)Gtc>Atc p.V326I SIM1_uc021zdg.1_Missense_Mutation_p.V326I|SIM1_uc010kcu.3_Missense_Mutation_p.V326I NM_005068 NP_005059 P81133 SIM1_HUMAN Homo sapiens single-minded homolog 1 (Drosophila) (SIM1), mRNA. 326 PAC. cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5) 79 all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13) BRCA - Breast invasive adenocarcinoma(108;0.0774) TTGACGCTGACGATACAGTGT 0.622000 21 12 0 0 0.000978 0 0 SASH1 23328 broad.mit.edu 37 6 148853933 148853933 + Splice_Site SNP G A A TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr6:148853933G>A uc003qme.1 + 14 2040 c.1565_splice c.e14-1 p.S522_splice SASH1_uc011eeb.1_Splice_Site_p.S283_splice|SASH1_uc003qmf.1_Splice_Site NM_015278 NP_056093 O94885 SASH1_HUMAN Homo sapiens SAM and SH3 domain containing 1 (SASH1), mRNA. 522 protein binding breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 52 Ovarian(120;0.0169) OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701) TCCTGTACAGGCGGTCAAACA 0.522000 73 4 0 0 0.000602 0 0 CSF2RA 1438 broad.mit.edu 37 X 1409325 1409325 + Missense_Mutation SNP A G G TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chrX:1409325A>G uc010nct.2 + 7 891 c.569A>G c.(568-570)aAt>aGt p.N190S CRLF2_uc022brt.1_Intron|CSF2RA_uc011mhb.1_Missense_Mutation_p.N190S|CSF2RA_uc004cpq.2_Missense_Mutation_p.N190S|CSF2RA_uc004cpn.2_Missense_Mutation_p.N190S|CSF2RA_uc004cpo.2_Missense_Mutation_p.N190S|CSF2RA_uc010ncu.2_Non-coding_Transcript|CSF2RA_uc011mhc.1_Missense_Mutation_p.N57S|CSF2RA_uc004cpp.2_Missense_Mutation_p.N190S|CSF2RA_uc010ncv.2_Missense_Mutation_p.N190S|CSF2RA_uc004cpr.2_Missense_Mutation_p.N190S NM_001161529 NP_001155004 P15509 CSF2R_HUMAN Homo sapiens colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage) (CSF2RA), transcript variant 7, mRNA. 190 extracellular region|integral to plasma membrane cytokine receptor activity p.R189H(1) central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 45 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) Sargramostim(DB00020) ACGTCTCGCAATTACTTTCTG 0.418000 205 130 0 0 0.003610 0 0 ZNRF4 148066 broad.mit.edu 37 19 5456559 5456559 + Missense_Mutation SNP C G G TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr19:5456559C>G uc002mca.4 + 0 1134 c.1057C>G c.(1057-1059)Cag>Gag p.Q353E NM_181710 NP_859061 Q8WWF5 ZNRF4_HUMAN Homo sapiens zinc and ring finger 4 (ZNRF4), mRNA. 353 integral to membrane zinc ion binding NS(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 16 UCEC - Uterine corpus endometrioid carcinoma (162;0.0002) CGTGTGCAAACAGTCGGTGGC 0.642000 43 37 0 0 0.004289 0 0 PCDHB2 56133 broad.mit.edu 37 5 140475666 140475666 + Missense_Mutation SNP C T T TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr5:140475666C>T uc003lil.3 + 0 1430 c.1292C>T c.(1291-1293)cCc>cTc p.P431L PCDHB2_uc003lim.1_Missense_Mutation_p.P92L NM_018936 NP_061759 Q9Y5E7 PCDB2_HUMAN Homo sapiens protocadherin beta 2 (PCDHB2), mRNA. 431 Cadherin 4. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2) 71 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TTCGGGACACCCAGGCTGAAA 0.562000 75 41 0 0 0.005524 0 0 RPUSD1 113000 broad.mit.edu 37 16 836243 836243 + Missense_Mutation SNP G A A TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr16:836243G>A uc002cka.3 - 4 880 c.646C>T c.(646-648)Ccc>Tcc p.P216S RPUSD1_uc002ckb.3_Missense_Mutation_p.P216S|CHTF18_uc010uus.1_5'Flank|CHTF18_uc010bre.1_5'Flank|CHTF18_uc002cke.4_5'Flank|CHTF18_uc002ckf.4_5'Flank|CHTF18_uc010brf.3_5'Flank|CHTF18_uc002ckg.4_5'Flank NM_058192 NP_478072 Q9UJJ7 RUSD1_HUMAN Homo sapiens RNA pseudouridylate synthase domain containing 1 (RPUSD1), mRNA. 216 pseudouridine synthesis RNA binding|pseudouridine synthase activity endometrium(3)|lung(2)|skin(2) 7 Hepatocellular(780;0.00335) GTGTCCGTGGGGATGCGCAGG 0.667000 72 44 0 0 0.002222 0 0 ASXL3 80816 broad.mit.edu 37 18 31319839 31319839 + Missense_Mutation SNP C T T TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr18:31319839C>T uc010dmg.1 + 10 2526 c.2471C>T c.(2470-2472)cCg>cTg p.P824L ASXL3_uc002kxq.2_Missense_Mutation_p.P531L NM_030632 NP_085135 Q9C0F0 ASXL3_HUMAN Homo sapiens additional sex combs like 3 (Drosophila) (ASXL3), mRNA. 824 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1) 43 GAAGCATTTCCGTCTGAAGAT 0.448000 19 9 0 0 0.004482 0 0 DHRS7C 201140 broad.mit.edu 37 17 9694527 9694527 + Silent SNP C T T TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr17:9694527C>T uc010vvb.2 - 0 88 c.75G>A c.(73-75)gaG>gaA p.E25E DHRS7C_uc010cof.3_Silent_p.E25E NM_001220493 NP_001207422 A6NNS2 DRS7C_HUMAN Homo sapiens dehydrogenase/reductase (SDR family) member 7C (DHRS7C), transcript variant 1, mRNA. 25 extracellular region binding|oxidoreductase activity NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9) 15 GCCTGGACACCTCTTGGTAAA 0.557000 21 9 0 0 0.004482 0 0 AAK1 22848 broad.mit.edu 37 2 69754441 69754441 + Silent SNP C T T TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr2:69754441C>T uc002sfp.2 - 8 1387 c.882G>A c.(880-882)ttG>ttA p.L294L AAK1_uc010fdk.2_Silent_p.L294L|AAK1_uc010yqm.1_Silent_p.L294L NM_014911 NP_055726 Q2M2I8 AAK1_HUMAN Homo sapiens AP2 associated kinase 1 (AAK1), mRNA. 294 Protein kinase. coated pit|mitochondrion|plasma membrane ATP binding|protein serine/threonine kinase activity NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1) 17 GGTCTGGTTCCAACATATACC 0.393000 11 8 0 0 0.004482 0 0 C12orf50 160419 broad.mit.edu 37 12 88379629 88379629 + Missense_Mutation SNP G T T TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr12:88379629G>T uc001tam.1 - 10 1292 c.1124C>A c.(1123-1125)cCa>cAa p.P375Q C12orf50_uc001tan.3_Missense_Mutation_p.P390Q NM_152589 NP_689802 Q8NA57 CL050_HUMAN Homo sapiens chromosome 12 open reading frame 50 (C12orf50), mRNA. 375 NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|urinary_tract(2) 34 GACCTCACCTGGACTGAGGTT 0.502000 43 17 6.94344e-10 9.17488e-10 0.006122 1 0 PRB1 5542 broad.mit.edu 37 12 11506270 11506270 + Missense_Mutation SNP G A A TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr12:11506270G>A uc001qzw.1 - 3 801 c.764C>T c.(763-765)cCt>cTt p.P255L PRB1_uc001qzu.1_Missense_Mutation_p.P123L|PRB1_uc001qzv.1_Intron NM_005039 NP_005030 P04280 PRP1_HUMAN Homo sapiens proline-rich protein BstNI subfamily 1 (PRB1), transcript variant 1, mRNA. 317 15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-[PAQ]-Q-[GE]-[GD]- [NKS]-[KSQRN]-[PRQS]-[QS] [GPS]-[PQAR]- [PSR]. Missing (in allele S).|Missing (in clone CP-4).|Missing (in clone CP-5). extracellular region NS(1)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 20 OV - Ovarian serous cystadenocarcinoma(49;0.185) CTTTCCTGGAGGTGGGGGACC 0.617000 146 103 0 0 0.003610 0 0 TAP1 6890 broad.mit.edu 37 6 32816878 32816878 + Silent SNP C T T TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr6:32816878C>T uc003ocg.3 - 5 1601 c.1446G>A c.(1444-1446)ctG>ctA p.L482L TAP1_uc011dqi.2_Silent_p.L221L NM_000593 NP_000584 Q03518 TAP1_HUMAN Homo sapiens transporter 1, ATP-binding cassette, sub-family B (MDR/TAP) (TAP1), mRNA. 482 ABC transmembrane type-1. antigen processing and presentation of endogenous peptide antigen via MHC class I|cytosol to ER transport|intracellular transport of viral proteins in host cell|positive regulation of T cell mediated cytotoxicity TAP complex|cytosol|plasma membrane ADP binding|ATP binding|MHC class I protein binding|TAP1 binding|TAP2 binding|oligopeptide-transporting ATPase activity|peptide antigen binding|protein homodimerization activity|tapasin binding breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(4)|prostate(1)|skin(1) 21 TTCCCACTTTCAGCAGCATAC 0.478000 11 7 0 0 0.003080 0 0 UNC13B 10497 broad.mit.edu 37 9 35390690 35390690 + Missense_Mutation SNP G A A TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr9:35390690G>A uc003zwr.3 + 24 3332 c.3040G>A c.(3040-3042)Gac>Aac p.D1014N UNC13B_uc003zwq.3_Missense_Mutation_p.D1014N NM_006377 NP_006368 O14795 UN13B_HUMAN Homo sapiens unc-13 homolog B (C. elegans) (UNC13B), mRNA. 1014 MHD1. excretion|induction of apoptosis|intracellular signal transduction Golgi apparatus|cell junction|synapse metal ion binding|receptor activity breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 63 all_epithelial(49;0.212) LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194) GTTTGCCCAAGACATGAAATA 0.483000 48 17 0 0 0.004990 0 0 CCDC108 255101 broad.mit.edu 37 2 219878243 219878243 + Silent SNP G A A TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr2:219878243G>A uc002vjl.1 - 22 3928 c.3844C>T c.(3844-3846)Ctg>Ttg p.L1282L NM_194302 NP_919278 Q6ZU64 CC108_HUMAN Homo sapiens coiled-coil domain containing 108 (CCDC108), transcript variant 1, mRNA. 1282 integral to membrane structural molecule activity autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 80 Renal(207;0.0915) Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) GGCCTCACCAGGATCTCCCGG 0.592000 9 12 0 0 0.001855 0 0 ADAMTS2 9509 broad.mit.edu 37 5 178556940 178556940 + Missense_Mutation SNP G A A TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr5:178556940G>A uc003mjw.3 - 15 2552 c.2450C>T c.(2449-2451)aCc>aTc p.T817I NM_014244 NP_055059 O95450 ATS2_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 2 (ADAMTS2), transcript variant 1, mRNA. 817 Spacer. collagen catabolic process proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7) 72 all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326) all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GBM - Glioblastoma multiforme(465;0.0473) CACCAGAACGGTGATGGTGCC 0.662000 32 19 0 0 0.001523 0 0 LCA5L 150082 broad.mit.edu 37 21 40795010 40795010 + Silent SNP C T T TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr21:40795010C>T uc002yxu.3 - 4 1042 c.729G>A c.(727-729)caG>caA p.Q243Q LCA5L_uc002yxv.3_Silent_p.Q243Q|LCA5L_uc021wji.1_Silent_p.Q105Q|LCA5L_uc002yxw.2_Silent_p.Q243Q|LCA5L_uc002yxy.3_Non-coding_Transcript NM_152505 NP_689718 O95447 LCA5L_HUMAN Homo sapiens Leber congenital amaurosis 5-like (LCA5L), mRNA. 243 breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1) 24 Prostate(19;1.2e-06) TCTGCAGTGCCTGCAAGATAT 0.368000 72 30 0 0 0.002836 0 0 CYP2C19 1557 broad.mit.edu 37 10 96522566 96522566 + Missense_Mutation SNP C T T TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr10:96522566C>T uc010qnz.2 + 0 104 c.104C>T c.(103-105)cCt>cTt p.P35L CYP2C19_uc009xus.1_Intron|CYP2C19_uc010qny.2_Intron NM_000769 NP_000760 P33261 CP2CJ_HUMAN Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 19 (CYP2C19), mRNA. 35 exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome (S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 43 Colorectal(252;0.09) all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838) Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582) GGCCCTACTCCTCTCCCAGTG 0.453000 43 35 0 0 0.002836 0 0 ZNF793 390927 broad.mit.edu 37 19 38028516 38028516 + Missense_Mutation SNP C T T TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr19:38028516C>T uc010efm.3 + 7 1398 c.956C>T c.(955-957)tCg>tTg p.S319L ZNF793_uc010xts.2_Missense_Mutation_p.S319L NM_001013659 NP_001013681 Q6ZN11 ZN793_HUMAN Homo sapiens zinc finger protein 793 (ZNF793), mRNA. 319 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding kidney(2)|lung(1) 3 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) TGCGGGAAATCGTTTGGTGAG 0.453000 17 9 0 0 0.006214 0 0 LHFPL4 375323 broad.mit.edu 37 3 9547696 9547696 + Missense_Mutation SNP G A A TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr3:9547696G>A uc003bry.3 - 2 884 c.598C>T c.(598-600)Cgg>Tgg p.R200W NM_198560 NP_940962 Q7Z7J7 LHPL4_HUMAN Homo sapiens lipoma HMGIC fusion partner-like 4 (LHFPL4), mRNA. 200 integral to membrane endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(3)|skin(1) 10 Medulloblastoma(99;0.227) TCTGTTTGCCGGTTGCCCAGC 0.652000 70 59 0 0 0.003610 0 0 ZNF208 7757 broad.mit.edu 37 19 22156833 22156833 + Missense_Mutation SNP G A A TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr19:22156833G>A uc021urr.1 - 3 1152 c.1003C>T c.(1003-1005)Cat>Tat p.H335Y ZNF208_uc002nqo.1_Intron NM_007153 NP_009084 Homo sapiens zinc finger protein 208 (ZNF208), mRNA. breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 113 all_lung(12;0.0961)|Lung NSC(12;0.103) TCTCCAGCATGAATTGCCTTA 0.393000 15 17 0 0 0.007413 0 0 DUSP7 1849 broad.mit.edu 37 3 52088047 52088047 + Silent SNP G A A TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr3:52088047G>A uc003dct.3 - 1 940 c.861C>T c.(859-861)caC>caT p.H287H DUSP7_uc010hma.2_Silent_p.H287H NM_001947 NP_001938 Q16829 DUS7_HUMAN Homo sapiens dual specificity phosphatase 7 (DUSP7), mRNA. 287 MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|inactivation of MAPK activity|innate immune response|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm MAP kinase tyrosine/serine/threonine phosphatase activity|protein binding|protein tyrosine phosphatase activity breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1) 17 BRCA - Breast invasive adenocarcinoma(193;5.14e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) ACTCGCCGCCGTGCTCGAAGG 0.567000 87 55 0 0 0.003610 0 0 ADAMTS7 11173 broad.mit.edu 37 15 79092798 79092798 + Silent SNP G A A TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr15:79092798G>A uc002bej.4 - 1 403 c.192C>T c.(190-192)ccC>ccT p.P64P ADAMTS7_uc010und.1_Silent_p.P64P|ADAMTS7_uc002bek.1_Silent_p.P64P NM_014272 NP_055087 Q9UKP4 ATS7_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 7 (ADAMTS7), mRNA. 64 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9) 54 GCAGTGCGCGGGGCCACAGCT 0.687000 16 6 0 0 0.001984 0 0 BAI3 577 broad.mit.edu 37 6 69772901 69772902 + Missense_Mutation DNP GG AA AA TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr6:69772901_69772902GG>AA uc010kak.3 + 14 2685_2686 c.2409_2410GG>AA c.(2407-2412)ctggag>ctAAag p.E804K BAI3_uc003pev.4_Missense_Mutation_p.E804K NM_001704 NP_001695 O60242 BAI3_HUMAN Homo sapiens brain-specific angiogenesis inhibitor 3 (BAI3), mRNA. 804 negative regulation of angiogenesis|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 210 all_lung(197;0.212) ATTCGTTTCTGGAGATAGAACT 0.361000 7 5 0 0 0.004672 0 0 TTN 7273 broad.mit.edu 37 2 179442202 179442202 + Missense_Mutation SNP C T T TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr2:179442202C>T uc021vsy.1 - 272 61381 c.61156G>A c.(61156-61158)Gat>Aat p.D20386N MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.D14081N|TTN_uc021vta.1_Missense_Mutation_p.D14014N|TTN_uc021vtb.1_Missense_Mutation_p.D13889N|AX746670_uc002umv.1_5'Flank NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 21313 Fibronectin type-III 47. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GTTAGCCCATCTTTTATTGTG 0.363000 22 15 0 0 0.003163 0 0 LPA 4018 broad.mit.edu 37 6 161071426 161071426 + Silent SNP A G G TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr6:161071426A>G uc003qtl.3 - 2 273 c.153T>C c.(151-153)gcT>gcC p.A51A NM_005577 NP_005568 P08519 APOA_HUMAN Homo sapiens lipoprotein, Lp(a) (LPA), mRNA. 2559 Kringle 1. blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis plasma lipoprotein particle apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1) 107 Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965) OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06) Aminocaproic Acid(DB00513) TAGATGACCAAGCTTGGCAGG 0.458000 82 47 0 0 0.003610 0 0 FER1L6 654463 broad.mit.edu 37 8 125076656 125076656 + Missense_Mutation SNP G C C TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr8:125076656G>C uc003yqw.3 + 25 3603 c.3397G>C c.(3397-3399)Gat>Cat p.D1133H AK057332_uc003yqy.1_Intron NM_001039112 NP_001034201 Q2WGJ9 FR1L6_HUMAN Homo sapiens fer-1-like 6 (C. elegans) (FER1L6), mRNA. 1133 integral to membrane p.D1133N(2) NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1) 118 Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741) STAD - Stomach adenocarcinoma(47;0.00186) TCCCCCAGCAGATCACATTTA 0.572000 149 46 0 0 0.003610 0 0 OR6T1 219874 broad.mit.edu 37 11 123814355 123814355 + Missense_Mutation SNP C T T TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr11:123814355C>T uc010sab.2 - 0 191 c.191G>A c.(190-192)cGg>cAg p.R64Q NM_001005187 NP_001005187 Q8NGN1 OR6T1_HUMAN Homo sapiens olfactory receptor, family 6, subfamily T, member 1 (OR6T1), mRNA. 64 R -> W (in dbSNP:rs6590021). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.R64W(1) breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 40 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;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401) GGAGAAATTCCGCAGGAAGAA 0.488000 49 29 0 0 0.006320 0 0 MTMR4 9110 broad.mit.edu 37 17 56573598 56573598 + Silent SNP G A A TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr17:56573598G>A uc002iwj.2 - 15 2015 c.1905C>T c.(1903-1905)aaC>aaT p.N635N NM_004687 NP_004678 Q9NYA4 MTMR4_HUMAN Homo sapiens myotubularin related protein 4 (MTMR4), mRNA. 635 cytoplasm|membrane metal ion binding|protein tyrosine phosphatase activity breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5) 36 Medulloblastoma(34;0.127)|all_neural(34;0.237) CCTGACAGTGGTTATTCAGGT 0.527000 36 23 0 0 0.001882 0 0 ATF6 22926 broad.mit.edu 37 1 161736198 161736198 + Silent SNP C T T TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr1:161736198C>T uc001gbs.3 + 0 165 c.48C>T c.(46-48)agC>agT p.S16S ATF6_uc001gbq.2_Silent_p.S16S NM_007348 NP_031374 P18850 ATF6A_HUMAN Homo sapiens activating transcription factor 6 (ATF6), mRNA. 16 Transcription activation. positive regulation of transcription from RNA polymerase II promoter involved in unfolded protein response|protein folding Golgi membrane|endoplasmic reticulum membrane|integral to membrane|nuclear envelope|nucleoplasm protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(14)|ovary(3)|skin(1)|stomach(1) 34 all_hematologic(112;0.156) BRCA - Breast invasive adenocarcinoma(70;0.00953) CACCTTTTAGCCCGGGACTCT 0.567000 53 19 0 0 0.001216 0 0 MYH2 4620 broad.mit.edu 37 17 10435093 10435093 + Missense_Mutation SNP C T T TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr17:10435093C>T uc010coi.3 - 21 2682 c.2554G>A c.(2554-2556)Gag>Aag p.E852K AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Missense_Mutation_p.E852K|MYH2_uc010coj.3_Intron NM_001100112 NP_060004 Q9UKX2 MYH2_HUMAN Homo sapiens myosin, heavy chain 2, skeletal muscle, adult (MYH2), transcript variant 2, mRNA. 852 muscle filament sliding muscle myosin complex|myosin filament|sarcomere ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4) 176 ATCTCCTTCTCAGTTTCTGCA 0.428000 46 33 0 0 0.005524 0 0 LARP1 23367 broad.mit.edu 37 5 154181850 154181850 + Missense_Mutation SNP C T T TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr5:154181850C>T uc003lvo.3 + 10 1793 c.1769C>T c.(1768-1770)tCg>tTg p.S590L LARP1_uc021ygh.1_Missense_Mutation_p.S462L|LARP1_uc021ygi.1_Missense_Mutation_p.S667L|LARP1_uc010jie.1_Missense_Mutation_p.S462L NM_015315 NP_056130 Q6PKG0 LARP1_HUMAN Homo sapiens La ribonucleoprotein domain family, member 1 (LARP1), transcript variant 1, mRNA. 667 RNA binding|protein binding breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 33 Renal(175;0.00488) Medulloblastoma(196;0.0354)|all_neural(177;0.147) KIRC - Kidney renal clear cell carcinoma(527;0.00112) AACCACACCTCGCGTGCCAAG 0.542000 67 27 0 0 0.007291 0 0 CHTF18 63922 broad.mit.edu 37 16 840372 840372 + Missense_Mutation SNP C T T TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr16:840372C>T uc002ckf.4 + 4 872 c.809C>T c.(808-810)gCc>gTc p.A270V RPUSD1_uc002cka.3_5'Flank|RPUSD1_uc002ckb.3_5'Flank|CHTF18_uc010uus.1_Silent_p.G247G|CHTF18_uc010bre.1_Non-coding_Transcript|CHTF18_uc002cke.4_Missense_Mutation_p.A242V|CHTF18_uc010brf.3_5'UTR|CHTF18_uc002ckg.4_5'UTR NM_022092 NP_071375 Q8WVB6 CTF18_HUMAN Homo sapiens CTF18, chromosome transmission fidelity factor 18 homolog (S. cerevisiae) (CHTF18), mRNA. 242 DNA replication|cell cycle nucleus ATP binding|DNA binding|nucleoside-triphosphatase activity endometrium(1)|kidney(3)|liver(2)|lung(4)|prostate(1) 11 Hepatocellular(780;0.00335) CTTCAGGAGGCCCAGAAGCTT 0.657000 14 11 0 0 0.000673 0 0 VPS39 23339 broad.mit.edu 37 15 42456603 42456603 + Missense_Mutation SNP G A A TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr15:42456603G>A uc001zpd.3 - 19 2163 c.2012C>T c.(2011-2013)tCc>tTc p.S671F VPS39_uc001zpc.3_Missense_Mutation_p.S660F|VPS39_uc001zpb.3_Missense_Mutation_p.S6F NM_015289 NP_056104 Q96JC1 VPS39_HUMAN Homo sapiens vacuolar protein sorting 39 homolog (S. cerevisiae) (VPS39), mRNA. 671 protein transport HOPS complex|late endosome membrane|lysosomal membrane small GTPase regulator activity breast(2)|kidney(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 all_cancers(109;6.78e-16)|all_epithelial(112;1.81e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152) GBM - Glioblastoma multiforme(94;3.05e-06) ATAGTAGCTGGAAATCTCCAA 0.517000 22 18 0 0 0.004990 0 0 USP9X 8239 broad.mit.edu 37 X 40982969 40982969 + Nonsense_Mutation SNP C T T TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chrX:40982969C>T uc004dfb.3 + 1 721 c.88C>T c.(88-90)Cag>Tag p.Q30* USP9X_uc004dfc.3_Nonsense_Mutation_p.Q30* NM_001039590 NP_001034679 Q93008 USP9X_HUMAN Homo sapiens ubiquitin specific peptidase 9, X-linked (USP9X), transcript variant 3, mRNA. 30 BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process cytoplasm co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 87 CCCCCTCCAACAGAATCAGGT 0.557000 3 8 0 0 0.003080 0 0 FAM135B 51059 broad.mit.edu 37 8 139189619 139189619 + Missense_Mutation SNP T G G TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr8:139189619T>G uc003yuy.3 - 10 1245 c.1074A>C c.(1072-1074)aaA>aaC p.K358N FAM135B_uc003yux.3_Missense_Mutation_p.K259N|FAM135B_uc003yuz.3_Non-coding_Transcript NM_015912 NP_056996 Q49AJ0 F135B_HUMAN Homo sapiens family with sequence similarity 135, member B (FAM135B), mRNA. 358 NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 238 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) GGACTGCAAGTTTTTGGTGCT 0.418000 HNSCC(54;0.14) 25 7 0 0 0.004482 0 0 NEU1 4758 broad.mit.edu 37 6 31828335 31828335 + Nonsense_Mutation SNP C A A TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr6:31828335C>A uc003nxq.4 - 3 835 c.679G>T c.(679-681)Gga>Tga p.G227* NM_000434 NP_000425 Q99519 NEUR1_HUMAN Homo sapiens sialidase 1 (lysosomal sialidase) (NEU1), mRNA. 227 G -> R (in SIALIDOSIS; type 1 and juvenile type 2; catalytically inactive; retained in pre-lysosomal compartments). cytoplasmic membrane-bounded vesicle|lysosomal lumen|lysosomal membrane|plasma membrane exo-alpha-sialidase activity|protein binding kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1) 10 Oseltamivir(DB00198)|Zanamivir(DB00558) CAGAAGACTCCGTCCCGCTCC 0.602000 598 9 0.00448238 0.00587705 0.004482 1 0 OR51L1 119682 broad.mit.edu 37 11 5020323 5020323 + Nonsense_Mutation SNP T A A TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr11:5020323T>A uc010qyu.2 + 0 111 c.111T>A c.(109-111)taT>taA p.Y37* NM_001004755 NP_001004755 Q8NGJ5 O51L1_HUMAN Homo sapiens olfactory receptor, family 51, subfamily L, member 1 (OR51L1), mRNA. 37 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.A36A(1) central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(19)|skin(2)|stomach(1) 31 Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086) Epithelial(150;1.75e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19) GTCTTGCATATTTGGTAGCAT 0.423000 68 37 0 0 0.004289 0 0 TCF4 6925 broad.mit.edu 37 18 52927224 52927224 + Missense_Mutation SNP G A A TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr18:52927224G>A uc002lga.3 - 13 1391 c.1331C>T c.(1330-1332)tCa>tTa p.S444L TCF4_uc021ukg.1_Missense_Mutation_p.S182L|TCF4_uc021ukh.1_Missense_Mutation_p.S182L|TCF4_uc002lfw.4_Missense_Mutation_p.S182L|TCF4_uc010xdu.1_Missense_Mutation_p.S212L|TCF4_uc010xdv.1_Missense_Mutation_p.S212L|TCF4_uc021uki.1_Missense_Mutation_p.S271L|TCF4_uc002lfx.2_Missense_Mutation_p.S271L|TCF4_uc010xdw.1_Missense_Mutation_p.S212L|TCF4_uc002lfy.2_Missense_Mutation_p.S300L|TCF4_uc010xdx.1_Missense_Mutation_p.S318L|TCF4_uc021ukj.1_Missense_Mutation_p.S282L|TCF4_uc021ukk.1_Missense_Mutation_p.S282L|TCF4_uc021ukl.1_Missense_Mutation_p.S340L|TCF4_uc002lfz.2_Missense_Mutation_p.S342L|TCF4_uc010dph.1_Missense_Mutation_p.S342L|TCF4_uc010dpi.3_Missense_Mutation_p.S348L|TCF4_uc010xdy.1_Missense_Mutation_p.S318L NM_001243226 NP_001230155 P15884 ITF2_HUMAN Homo sapiens transcription factor 4 (TCF4), transcript variant 3, mRNA. 342 positive regulation of neuron differentiation|protein-DNA complex assembly|transcription initiation from RNA polymerase II promoter transcription factor complex E-box binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|TFIIB-class binding transcription factor activity|TFIIB-class transcription factor binding|protein C-terminus binding|protein heterodimerization activity|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1) 41 Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718) AGGGTTTGATGAAAAGCTGTT 0.343000 49 19 0 0 0.003330 0 0 CRYBA4 1413 broad.mit.edu 37 22 27024321 27024321 + Missense_Mutation SNP G A A TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr22:27024321G>A uc003acz.4 + 4 405 c.370G>A c.(370-372)Gat>Aat p.D124N NM_001886 NP_001877 P53673 CRBA4_HUMAN Homo sapiens crystallin, beta A4 (CRYBA4), mRNA. 124 Beta/gamma crystallin 'Greek key' 3. camera-type eye development|visual perception soluble fraction structural constituent of eye lens large_intestine(6)|liver(1)|lung(6)|skin(3)|urinary_tract(2) 18 AGAGCTGAGCGATGACTATCC 0.547000 62 40 0 0 0.006230 0 0 ARSF 416 broad.mit.edu 37 X 3007669 3007669 + Missense_Mutation SNP G A A TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chrX:3007669G>A uc022brz.1 + 6 1099 c.963G>A c.(961-963)atG>atA p.M321I ARSF_uc004cre.2_Missense_Mutation_p.M321I|ARSF_uc004crf.2_Missense_Mutation_p.M321I NM_001201538 NP_001188467 P54793 ARSF_HUMAN Homo sapiens arylsulfatase F (ARSF), transcript variant 2, mRNA. 321 extracellular region arylsulfatase activity|metal ion binding NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2) 38 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) TGGACTCCATGGTGGGTAAGT 0.493000 9 27 0 0 0.007291 0 0 TNRC6B 23112 broad.mit.edu 37 22 40706833 40706833 + Missense_Mutation SNP C T T TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr22:40706833C>T uc011aor.2 + 16 4482 c.4271C>T c.(4270-4272)gCc>gTc p.A1424V TNRC6B_uc003aym.3_Missense_Mutation_p.A620V|TNRC6B_uc003ayn.4_Missense_Mutation_p.A1314V|TNRC6B_uc003ayo.3_Missense_Mutation_p.A1171V NM_001162501 NP_001155973 Q9UPQ9 TNR6B_HUMAN Homo sapiens trinucleotide repeat containing 6B (TNRC6B), transcript variant 1, mRNA. 1424 gene silencing by RNA|regulation of translation cytoplasmic mRNA processing body RNA binding|nucleotide binding breast(1) 1 GCTATAGTGGCCCCTGGTAAA 0.463000 20 9 0 0 0.006214 0 0 MYO9A 4649 broad.mit.edu 37 15 72172075 72172075 + Missense_Mutation SNP G A A TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr15:72172075G>A uc002atl.4 - 29 6199 c.5726C>T c.(5725-5727)tCa>tTa p.S1909L MYO9A_uc002atk.3_Missense_Mutation_p.S704L|MYO9A_uc002atm.1_Missense_Mutation_p.S705L NM_006901 NP_008832 B2RTY4 MYO9A_HUMAN Homo sapiens myosin IXA (MYO9A), mRNA. 1909 Tail. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception cytosol|integral to membrane|unconventional myosin complex ATP binding|GTPase activator activity|actin binding|metal ion binding|motor activity NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 88 CAATGCAGATGAATAAAAGCT 0.353000 38 32 0 0 0.002096 0 0 CDH10 1008 broad.mit.edu 37 5 24488226 24488226 + Missense_Mutation SNP C T T TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr5:24488226C>T uc003jgr.2 - 11 2419 c.1913G>A c.(1912-1914)cGa>cAa p.R638Q CDH10_uc011cnu.2_Non-coding_Transcript NM_006727 NP_006718 Q9Y6N8 CAD10_HUMAN Homo sapiens cadherin 10, type 2 (T2-cadherin) (CDH10), mRNA. 638 adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.R638L(2)|p.R638Q(2) NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4) 185 STAD - Stomach adenocarcinoma(35;0.0556) CTCTTTTTTTCGCTGTCTTTT 0.398000 HNSCC(23;0.051) 23 12 0 0 0.002450 0 0 TMEM106C 79022 broad.mit.edu 37 12 48361033 48361033 + Silent SNP G A A TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr12:48361033G>A uc001rqp.3 + 6 760 c.645G>A c.(643-645)gtG>gtA p.V215V TMEM106C_uc001rqo.3_Silent_p.V196V|TMEM106C_uc001rqr.3_Silent_p.V215V|TMEM106C_uc001rqq.3_Silent_p.V196V NM_024056 NP_076961 Q9BVX2 T106C_HUMAN Homo sapiens transmembrane protein 106C (TMEM106C), transcript variant 2, mRNA. 215 endoplasmic reticulum membrane|integral to membrane endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|skin(3)|upper_aerodigestive_tract(1) 14 Acute lymphoblastic leukemia(13;0.11) GBM - Glioblastoma multiforme(48;0.241) ACAACATAGTGATCTTCATGC 0.498000 142 82 0 0 0.003610 0 0 DNAH5 1767 broad.mit.edu 37 5 13727702 13727702 + Missense_Mutation SNP G A A TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr5:13727702G>A uc003jfd.2 - 69 11989 c.11947C>T c.(11947-11949)Ctt>Ttt p.L3983F DNAH5_uc003jfc.2_Missense_Mutation_p.L151F NM_001369 NP_001360 Q8TE73 DYH5_HUMAN Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA. 3983 microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity p.L3983F(2) 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) GCATTTGGAAGAGGTTCCTCC 0.413000 Kartagener syndrome 22 11 0 0 0.000673 0 0 RACGAP1P 83956 broad.mit.edu 37 12 45457335 45457335 + RNA SNP G A A TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr12:45457335G>A uc001rol.3 - 0 c.1860C>T Homo sapiens Rac GTPase activating protein 1 pseudogene (RACGAP1P), non-coding RNA. CCCAAATCTGGGAGTGTTCTT 0.478000 21 15 0 0 0.003163 0 0 DNAH7 56171 broad.mit.edu 37 2 196681481 196681481 + Missense_Mutation SNP G A A TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr2:196681481G>A uc002utj.4 - 50 9733 c.9632C>T c.(9631-9633)tCc>tTc p.S3211F NM_018897 NP_061720 Q8WXX0 DYH7_HUMAN Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA. 3211 ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3) 205 AAATAGGATGGAAGAATGGAT 0.413000 43 25 0 0 0.003954 0 0 PBK 55872 broad.mit.edu 37 8 27668612 27668612 + Nonsense_Mutation SNP C T T TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr8:27668612C>T uc011lap.2 - 6 1034 c.668G>A c.(667-669)tGg>tAg p.W223* ESCO2_uc010luy.1_Intron|PBK_uc003xgi.3_Nonsense_Mutation_p.W212* NM_018492 NP_060962 Q96KB5 TOPK_HUMAN Homo sapiens PDZ binding kinase (PBK), mRNA. 212 Protein kinase. mitosis ATP binding|protein binding|protein serine/threonine kinase activity endometrium(1)|large_intestine(2)|lung(1) 4 Ovarian(32;0.000953) UCEC - Uterine corpus endometrioid carcinoma (27;0.0213)|KIRC - Kidney renal clear cell carcinoma(542;0.101)|Kidney(114;0.121)|Colorectal(74;0.141) TTTGGGTTTCCATGGCTCTGT 0.448000 26 12 0 0 0.001368 0 0 C7orf58 79974 broad.mit.edu 37 7 120935653 120935653 + Missense_Mutation SNP G A A TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr7:120935653G>A uc003vjq.4 + 22 3475 c.3028G>A c.(3028-3030)Gtt>Att p.V1010I NM_024913 NP_079189 A4D0V7 CG058_HUMAN Homo sapiens chromosome 7 open reading frame 58 (C7orf58), transcript variant 1, mRNA. 1010 endoplasmic reticulum breast(1)|endometrium(3)|kidney(5)|large_intestine(14)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1) 66 all_neural(327;0.117) AATAAATCAGGTTTGTTCTGA 0.428000 69 28 0 0 0.001512 0 0 LAMA4 3910 broad.mit.edu 37 6 112476150 112476150 + Splice_Site SNP C T T TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr6:112476150C>T uc003pvu.2 - 16 2269 c.1960_splice c.e16-1 p.A654_splice LAMA4_uc003pvv.2_Splice_Site_p.A647_splice|LAMA4_uc003pvt.2_Splice_Site_p.A647_splice NM_001105206 NP_001098676 Q16363 LAMA4_HUMAN Homo sapiens laminin, alpha 4 (LAMA4), transcript variant 1, mRNA. 654 Domain II and I. cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex extracellular matrix structural constituent|receptor binding NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8) 100 all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209) all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242) CACTCACCGCCTACAAAGGAA 0.388000 48 21 0 0 0.001216 0 0 NPTXR 23467 broad.mit.edu 37 22 39219170 39219170 + Missense_Mutation SNP C T T TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr22:39219170C>T uc003awk.3 - 3 1350 c.1196G>A c.(1195-1197)gGg>gAg p.G399E NM_014293 NP_055108 O95502 NPTXR_HUMAN Homo sapiens neuronal pentraxin receptor (NPTXR), mRNA. 399 Pentaxin. integral to membrane metal ion binding p.G399G(1) central_nervous_system(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 14 Melanoma(58;0.04) CTGCAGCTCCCCGTCCTGGTA 0.622000 55 24 0 0 0.003330 0 0 OR2B6 26212 broad.mit.edu 37 6 27925897 27925897 + Silent SNP G A A TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr6:27925897G>A uc011dkx.2 + 0 879 c.879G>A c.(877-879)agG>agA p.R293R NM_012367 NP_036499 P58173 OR2B6_HUMAN Homo sapiens olfactory receptor, family 2, subfamily B, member 6 (OR2B6), mRNA. 293 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|large_intestine(3)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 ATACACTTAGGAACAAGGAGG 0.393000 29 17 0 0 0.004007 0 0 PAOX 196743 broad.mit.edu 37 10 135197568 135197568 + Silent SNP C T T TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr10:135197568C>T uc001lmv.3 + 3 1053 c.973C>T c.(973-975)Ctg>Ttg p.L325L PAOX_uc001lmx.3_Silent_p.L325L|PAOX_uc001lmy.3_Intron|PAOX_uc001lmz.3_Non-coding_Transcript|PAOX_uc001lna.3_Non-coding_Transcript|PAOX_uc001lnb.3_Intron|PAOX_uc001lnc.3_Intron|PAOX_uc001lmw.3_Intron NM_152911 NP_690875 Q6QHF9 PAOX_HUMAN Homo sapiens polyamine oxidase (exo-N4-amino) (PAOX), transcript variant 1, mRNA. 463 polyamine biosynthetic process|xenobiotic metabolic process peroxisomal matrix polyamine oxidase activity cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|urinary_tract(2) 23 all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203) all cancers(32;4.39e-07)|OV - Ovarian serous cystadenocarcinoma(35;1.21e-06)|Epithelial(32;1.94e-06) CAAAATCTTCCTGGAGTTTGA 0.562000 62 37 0 0 0.006230 0 0 C3orf67 200844 broad.mit.edu 37 3 58899555 58899555 + Silent SNP G A A TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr3:58899555G>A uc003dkt.1 - 5 463 c.54C>T c.(52-54)acC>acT p.T18T AK090895_uc003dku.1_Intron|C3orf67_uc003dkv.1_5'UTR|C3orf67_uc003dkw.3_Intron|C3orf67_uc011bfg.1_Non-coding_Transcript NM_198463 NP_940865 Q6ZVT6 CC067_HUMAN Homo sapiens chromosome 3 open reading frame 67 (C3orf67), mRNA. 18 p.T18S(1) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(3)|prostate(2)|skin(1) 19 all_cancers(2;0.000156)|all_epithelial(2;0.000493)|Breast(2;0.00446)|all_lung(2;0.074)|Lung NSC(2;0.248) BRCA - Breast invasive adenocarcinoma(55;5.93e-06)|Kidney(10;0.00155)|KIRC - Kidney renal clear cell carcinoma(10;0.00172)|OV - Ovarian serous cystadenocarcinoma(275;0.23) ATATTTCACTGGTGAATGCTA 0.388000 12 14 0 0 0.002450 0 0 TELO2 9894 broad.mit.edu 37 16 1544344 1544344 + Missense_Mutation SNP C T T rs146786272 by1000genomes TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr16:1544344C>T uc002cly.3 + 1 353 c.62C>T c.(61-63)tCt>tTt p.S21F TELO2_uc010uvg.1_Missense_Mutation_p.S21F NM_016111 NP_057195 Q9Y4R8 TELO2_HUMAN Homo sapiens TEL2, telomere maintenance 2, homolog (S. cerevisiae) (TELO2), mRNA. 21 chromosome, telomeric region|cytoplasm|membrane|nucleus protein binding NS(1)|endometrium(1)|kidney(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1) 19 Hepatocellular(780;0.219) GCCCTCTCGTCTTCGGAGGAT 0.622000 OREG0023547 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 79 50 0 0 0.003610 0 0 CALR 811 broad.mit.edu 37 19 13054393 13054393 + Missense_Mutation SNP G A A TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr19:13054393G>A uc002mvu.2 + 7 1083 c.1003G>A c.(1003-1005)Gat>Aat p.D335N RAD23A_uc002mvw.1_5'Flank|RAD23A_uc002mvz.1_5'Flank|RAD23A_uc010xmw.1_5'Flank NM_004343 NP_004334 P27797 CALR_HUMAN Homo sapiens calreticulin (CALR), mRNA. 335 C-domain. cell cycle arrest|cellular senescence|glucocorticoid receptor signaling pathway|negative regulation of neuron differentiation|negative regulation of retinoic acid receptor signaling pathway|negative regulation of steroid hormone receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative regulation of translation|peptide antigen assembly with MHC class I protein complex|positive regulation of DNA replication|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of phagocytosis|post-translational protein modification|protein N-linked glycosylation via asparagine|protein export from nucleus|protein maturation by protein folding|protein stabilization|regulation of apoptosis|sequestering of calcium ion MHC class I peptide loading complex|cytosol|endoplasmic reticulum lumen|extracellular space|nucleus|perinuclear region of cytoplasm|polysome|proteinaceous extracellular matrix DNA binding|androgen receptor binding|calcium ion binding|chaperone binding|complement component C1q binding|integrin binding|mRNA binding|protein binding involved in protein folding|sugar binding|ubiquitin protein ligase binding|unfolded protein binding|zinc ion binding kidney(1)|large_intestine(3)|lung(5)|ovary(1) 10 Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Reteplase(DB00015)|Tenecteplase(DB00031) CATCACCAACGATGAGGCATA 0.577000 34 22 0 0 0.003330 0 0 ZSWIM4 65249 broad.mit.edu 37 19 13919908 13919908 + Missense_Mutation SNP G A A TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr19:13919908G>A uc002mxh.1 + 4 1075 c.886G>A c.(886-888)Gac>Aac p.D296N ZSWIM4_uc010xng.1_Missense_Mutation_p.D102N NM_023072 NP_075560 Q9H7M6 ZSWM4_HUMAN Homo sapiens zinc finger, SWIM-type containing 4 (ZSWIM4), mRNA. 296 zinc ion binding central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 27 OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19) GCGAATGCGGGACTCCAACGG 0.721000 41 18 0 0 0.007413 0 0 OSGIN2 734 broad.mit.edu 37 8 90937126 90937126 + Missense_Mutation SNP G A A TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr8:90937126G>A uc003yeh.3 + 5 1276 c.1016G>A c.(1015-1017)gGa>gAa p.G339E OSGIN2_uc003yeg.3_Missense_Mutation_p.G295E NM_001126111 NP_004328 Q9Y236 OSGI2_HUMAN Homo sapiens oxidative stress induced growth inhibitor family member 2 (OSGIN2), transcript variant 1, mRNA. 295 germ cell development|meiosis breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|urinary_tract(1) 17 BRCA - Breast invasive adenocarcinoma(11;0.0344) ATAAACAAAGGAAAGTTGCGT 0.443000 37 31 0 0 0.003271 0 0 SORBS2 8470 broad.mit.edu 37 4 186545434 186545434 + Silent SNP G A A TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr4:186545434G>A uc003iyg.3 - 12 1511 c.1479C>T c.(1477-1479)atC>atT p.I493I SORBS2_uc003iyh.3_Intron|SORBS2_uc011ckw.2_Intron|SORBS2_uc003iyi.3_Intron|SORBS2_uc011ckx.2_Intron|SORBS2_uc003iyk.3_Intron|SORBS2_uc003iym.3_Silent_p.I479I|SORBS2_uc003iyl.3_Silent_p.I379I|SORBS2_uc003iyn.1_Intron|SORBS2_uc011cku.2_Intron|SORBS2_uc011ckv.2_Silent_p.I283I|SORBS2_uc003iyd.3_Intron|SORBS2_uc003iye.3_Intron|SORBS2_uc003iya.3_Intron|SORBS2_uc003iyb.3_Intron|SORBS2_uc003iyc.3_Intron|SORBS2_uc003iyf.3_Intron|SORBS2_uc003iyo.1_Intron NM_021069 NP_066547 O94875 SRBS2_HUMAN Homo sapiens sorbin and SH3 domain containing 2 (SORBS2), transcript variant 2, mRNA. 379 Z disc|actin cytoskeleton|nucleus|perinuclear region of cytoplasm cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1) 53 all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244) OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205) TCCGGGATTTGATTTTGGGAG 0.537000 34 26 0 0 0.004656 0 0 CCDC28A 25901 broad.mit.edu 37 6 139094904 139094904 + Silent SNP C T T TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr6:139094904C>T uc003qie.3 + 0 248 c.93C>T c.(91-93)ttC>ttT p.F31F LOC100507462_uc003qid.2_5'Flank NM_015439 NP_056254 Q8IWP9 CC28A_HUMAN Homo sapiens coiled-coil domain containing 28A (CCDC28A), mRNA. 31 autonomic_ganglia(1)|large_intestine(3)|lung(8)|ovary(1) 13 OV - Ovarian serous cystadenocarcinoma(155;0.000201)|GBM - Glioblastoma multiforme(68;0.000306) TACGTCACTTCCGTAAACAAA 0.642000 108 92 0 0 0.003610 0 0 OR51L1 119682 broad.mit.edu 37 11 5020909 5020909 + Missense_Mutation SNP C T T TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr11:5020909C>T uc010qyu.2 + 0 697 c.697C>T c.(697-699)Cgt>Tgt p.R233C NM_001004755 NP_001004755 Q8NGJ5 O51L1_HUMAN Homo sapiens olfactory receptor, family 51, subfamily L, member 1 (OR51L1), mRNA. 233 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(19)|skin(2)|stomach(1) 31 Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086) Epithelial(150;1.75e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19) TATTGCATCTCGTGAAGAGCA 0.418000 24 11 0 0 0.000673 0 0 DL492607 0 broad.mit.edu 37 11 113661574 113661574 + RNA SNP G T T TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr11:113661574G>T uc001pof.1 + 0 c.1622G>T Homo sapiens cDNA FLJ36034 fis, clone TESTI2017107, highly similar to CYCLIC-AMP-DEPENDENT TRANSCRIPTION FACTOR ATF-4. CATTCCTTTAGTTTAGAGCTG 0.517000 23 20 1.64113e-05 2.15845e-05 0.001523 1 0 MYH6 4624 broad.mit.edu 37 14 23868084 23868084 + Missense_Mutation SNP G A A TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr14:23868084G>A uc001wjv.3 - 14 1815 c.1744C>T c.(1744-1746)Cac>Tac p.H582Y NM_002471 NP_002462 P13533 MYH6_HUMAN Homo sapiens myosin, heavy chain 6, cardiac muscle, alpha (MYH6), mRNA. 582 Myosin head-like. adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle p.I581M(1) breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 119 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441) CCGGCGTAGTGGATCAGGGAG 0.542000 41 17 0 0 0.007413 0 0 TXNDC5 81567 broad.mit.edu 37 6 7886236 7886236 + Missense_Mutation SNP G A A TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr6:7886236G>A uc003mxv.3 - 7 1042 c.1004C>T c.(1003-1005)aCc>aTc p.T335I TXNDC5_uc003mxw.3_Missense_Mutation_p.T292I|TXNDC5_uc010jnz.3_Missense_Mutation_p.T227I NM_030810 NP_001139021 Q8NBS9 TXND5_HUMAN Homo sapiens thioredoxin domain containing 5 (endoplasmic reticulum) (TXNDC5), transcript variant 1, mRNA. 335 Thioredoxin 3. anti-apoptosis|cell redox homeostasis|cellular membrane organization|glycerol ether metabolic process|post-Golgi vesicle-mediated transport endoplasmic reticulum lumen|lysosomal lumen electron carrier activity|isomerase activity|protein disulfide oxidoreductase activity breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|skin(2) 22 Ovarian(93;0.0398) TTCTGCAATGGTGTCATCGAA 0.418000 21 16 0 0 0.004990 0 0 UBQLN3 50613 broad.mit.edu 37 11 5529829 5529829 + Silent SNP C T T TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr11:5529829C>T uc021qcw.1 - 0 960 c.960G>A c.(958-960)caG>caA p.Q320Q HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_5'Flank|OR51B5_uc021qcv.1_5'Flank|OR51B5_uc001maq.2_5'Flank|UBQLN3_uc001may.1_Silent_p.Q320Q NM_017481 NP_059509 Q9H347 UBQL3_HUMAN Homo sapiens ubiquilin 3 (UBQLN3), mRNA. 320 NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2) 39 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GATCCCCATCCTGCCTTCCTT 0.512000 41 27 0 0 0.003954 0 0 OR4N4 283694 broad.mit.edu 37 15 22382814 22382814 + Silent SNP C T T TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr15:22382814C>T uc001yuc.1 + 6 1323 c.342C>T c.(340-342)ctC>ctT p.L114L abParts_uc001yuj.2_Intron|OR4N4_uc001yub.1_Intron|OR4N4_uc010tzv.2_Silent_p.L114L NM_001005241 NP_001005241 Q8N0Y3 OR4N4_HUMAN Homo sapiens olfactory receptor, family 4, subfamily N, member 4 (OR4N4), mRNA. 114 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) AGGGATTACTCCTTGTTGTGA 0.507000 66 24 0 0 0.001786 0 0 MIPOL1 145282 broad.mit.edu 37 14 38016170 38016170 + Silent SNP G A A TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr14:38016170G>A uc001wud.3 + 14 1965 c.1323G>A c.(1321-1323)gtG>gtA p.V441V MIPOL1_uc010ams.3_Silent_p.V441V|MIPOL1_uc001wuc.3_Silent_p.V441V|MIPOL1_uc001wue.3_Silent_p.V410V|MIPOL1_uc010amt.3_Silent_p.V260V NM_001195297 NP_001182226 Q8TD10 MIPO1_HUMAN Homo sapiens mirror-image polydactyly 1 (MIPOL1), transcript variant 2, mRNA. 441 breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 23 Breast(36;0.119)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213) Lung(238;6.03e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.047)|all cancers(34;0.0953)|LUSC - Lung squamous cell carcinoma(13;0.0975)|BRCA - Breast invasive adenocarcinoma(188;0.196) GBM - Glioblastoma multiforme(112;0.0358) TGAGGACAGTGATCTGATTGA 0.478000 23 13 0 0 0.002450 0 0 EPAS1 2034 broad.mit.edu 37 2 46611754 46611754 + Silent SNP C T T TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr2:46611754C>T uc002ruv.3 + 15 3078 c.2568C>T c.(2566-2568)ctC>ctT p.L856L EPAS1_uc002ruw.3_Silent_p.L322L NM_001430 NP_001421 Q99814 EPAS1_HUMAN Homo sapiens endothelial PAS domain protein 1 (EPAS1), mRNA. 856 CTAD. angiogenesis|myoblast cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|response to hypoxia transcription factor complex histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription coactivator activity|transcription factor binding p.T855T(1) NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18) LUSC - Lung squamous cell carcinoma(58;0.151) GCTCCACGCTCCTGCAAGGAG 0.642000 27 20 0 0 0.007413 0 0 PLAG1 5324 broad.mit.edu 37 8 57079469 57079469 + Missense_Mutation SNP G A A TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr8:57079469G>A uc003xsq.4 - 2 1287 c.836C>T c.(835-837)tCa>tTa p.S279L PLAG1_uc003xsr.4_Missense_Mutation_p.S279L|PLAG1_uc010lyi.3_Missense_Mutation_p.S279L|PLAG1_uc010lyj.3_Missense_Mutation_p.S197L|PLAG1_uc022aur.1_Missense_Mutation_p.S197L NM_001114635 NP_001108107 Q6DJT9 PLAG1_HUMAN Homo sapiens pleiomorphic adenoma gene 1 (PLAG1), transcript variant 3, mRNA. 279 Activates transcription; Inhibition of nuclear import due to lack of NLS and KPNA2 interaction.|Repression domain; contains 3 sumoylation motifs and massively decrease transcription activity. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding CTNNB1/PLAG1(60)|LIFR_ENST00000263409/PLAG1(10)|HAS2/PLAG1(10)|FGFR1_ENST00000447712/PLAG1(28)|COL1A2/PLAG1(3)|CHCHD7/PLAG1(12)|TCEA1_ENST00000521604/PLAG1(3) breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 28 all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.125) Epithelial(17;0.00179)|all cancers(17;0.0125) GAATGGCTTTGATAACAGTTC 0.453000 T """TCEA1, LIFR, CTNNB1, CHCHD7""" salivary adenoma 67 35 0 0 0.003271 0 0 GPC3 2719 broad.mit.edu 37 X 132670163 132670163 + Silent SNP G A A TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chrX:132670163G>A uc010nrn.2 - 8 1998 c.1801C>T c.(1801-1803)Ctg>Ttg p.L601L GPC3_uc004exe.2_Silent_p.L578L|GPC3_uc011mvh.2_Silent_p.L562L|GPC3_uc010nro.2_Silent_p.L524L NM_001164617 NP_001158089 P51654 GPC3_HUMAN Homo sapiens glypican 3 (GPC3), transcript variant 1, mRNA. 578 extracellular space|integral to plasma membrane|proteinaceous extracellular matrix heparan sulfate proteoglycan binding|peptidyl-dipeptidase inhibitor activity breast(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|prostate(1)|skin(2) 36 Acute lymphoblastic leukemia(192;0.000127) CAGTGCACCAGGAAGAAGAAG 0.507000 """T, D, Mis, N, F, S""" Wilms tumour Simpson-Golabi-Behmel syndrome 9 30 0 0 0.002445 0 0 NME3 4832 broad.mit.edu 37 16 1821167 1821168 + Missense_Mutation DNP GG AA AA TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr16:1821167_1821168GG>AA uc002cmm.3 - 2 357_358 c.182_183CC>TT c.(181-183)tcc>tTT p.S61F NME3_uc010brv.3_Non-coding_Transcript|EME2_uc002cmq.1_5'Flank|EME2_uc010brw.1_5'Flank NM_002513 NP_002504 Q13232 NDK3_HUMAN Homo sapiens non-metastatic cells 3, protein expressed in (NME3), mRNA. 61 CTP biosynthetic process|GTP biosynthetic process|UTP biosynthetic process|apoptosis|induction of apoptosis ATP binding|metal ion binding|nucleoside diphosphate kinase activity lung(1) 1 GCAGCTCCTCGGAGGCCTGCGG 0.718000 10 9 0 0 0.004672 0 0 DCHS2 54798 broad.mit.edu 37 4 155225908 155225908 + Missense_Mutation SNP C T T TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr4:155225908C>T uc003inw.2 - 16 4153 c.4153G>A c.(4153-4155)Gaa>Aaa p.E1385K NM_017639 NP_060109 Q6V1P9 PCD23_HUMAN Homo sapiens dachsous 2 (Drosophila) (DCHS2), transcript variant 1, mRNA. 1385 Cadherin 12. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 176 all_hematologic(180;0.208) Renal(120;0.0854) LUSC - Lung squamous cell carcinoma(193;0.107) TCCTGGTTTTCCAGAACCTCA 0.418000 18 9 0 0 0.006214 0 0 SCN3A 6328 broad.mit.edu 37 2 166032661 166032661 + Missense_Mutation SNP G A A TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr2:166032661G>A uc002ucx.3 - 2 736 c.244C>T c.(244-246)Ccc>Tcc p.P82S SCN3A_uc002ucy.3_Missense_Mutation_p.P82S|SCN3A_uc002ucz.3_Missense_Mutation_p.P82S NM_006922 NP_008853 Q9NY46 SCN3A_HUMAN Homo sapiens sodium channel, voltage-gated, type III, alpha subunit (SCN3A), transcript variant 1, mRNA. 82 voltage-gated sodium channel complex voltage-gated sodium channel activity NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3) 120 Lamotrigine(DB00555) ATATAGTAGGGATCCAGGTCC 0.373000 36 21 0 0 0.001882 0 0 DUSP27 92235 broad.mit.edu 37 1 167097296 167097296 + Silent SNP C T T TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr1:167097296C>T uc001geb.1 + 4 2944 c.2928C>T c.(2926-2928)tcC>tcT p.S976S NM_001080426 NP_001073895 Q5VZP5 DUS27_HUMAN Homo sapiens dual specificity phosphatase 27 (putative) (DUSP27), mRNA. 976 Ser-rich. protein dephosphorylation protein tyrosine/serine/threonine phosphatase activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3) 89 CTAAATCCTCCAGTTACAAGT 0.498000 44 12 0 0 0.002450 0 0 CDS1 1040 broad.mit.edu 37 4 85562137 85562137 + Silent SNP G A A TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr4:85562137G>A uc011ccv.2 + 9 1524 c.1026G>A c.(1024-1026)ttG>ttA p.L342L CDS1_uc010ike.1_Silent_p.L146L NM_001263 NP_001254 Q92903 CDS1_HUMAN Homo sapiens CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 1 (CDS1), mRNA. 342 signal transduction|visual perception endoplasmic reticulum membrane|integral to membrane diacylglycerol cholinephosphotransferase activity|phosphatidate cytidylyltransferase activity breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|liver(2)|lung(5)|ovary(1) 20 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.00101) AGGCAGTCTTGAGACAGGTAC 0.348000 32 28 0 0 0.006320 0 0 AIM2 9447 broad.mit.edu 37 1 159033362 159033362 + Missense_Mutation SNP C T T TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr1:159033362C>T uc001ftj.1 - 4 1164 c.919G>A c.(919-921)Gga>Aga p.G307R NM_004833 NP_004824 O14862 AIM2_HUMAN Homo sapiens absent in melanoma 2 (AIM2), mRNA. 307 HIN-200. cellular response to drug|immune response|interleukin-1 beta secretion mitochondrion|nucleus breast(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(1) 16 all_hematologic(112;0.0429) ACCTTATCTCCTTCCTTACAT 0.388000 85 49 0 0 0.003610 0 0 GPATCH8 23131 broad.mit.edu 37 17 42478301 42478301 + Nonsense_Mutation SNP G A A TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr17:42478301G>A uc002igw.2 - 7 1363 c.1144C>T c.(1144-1146)Cga>Tga p.R382* GPATCH8_uc002igv.2_Nonsense_Mutation_p.R304*|GPATCH8_uc010wiz.2_Nonsense_Mutation_p.R304* NM_001002909 NP_001002909 Q9UKJ3 GPTC8_HUMAN Homo sapiens G patch domain containing 8 (GPATCH8), transcript variant 1, mRNA. 382 intracellular nucleic acid binding|zinc ion binding breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 50 Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.206) CCTTCTTCTCGTTTCATCCTT 0.438000 OREG0024461 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 70 29 0 0 0.006320 0 0 SCN10A 6336 broad.mit.edu 37 3 38743483 38743483 + Missense_Mutation SNP C T T TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr3:38743483C>T uc003ciq.3 - 25 4504 c.4504G>A c.(4504-4506)Gaa>Aaa p.E1502K NM_006514 NP_006505 Q9Y5Y9 SCNAA_HUMAN Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA. 1502 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) GTCTTTTCTTCACTTTGGTCA 0.448000 35 16 0 0 0.004990 0 0 OR10S1 219873 broad.mit.edu 37 11 123848357 123848357 + Silent SNP C T T TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr11:123848357C>T uc001pzm.1 - 0 42 c.42G>A c.(40-42)acG>acA p.T14T NM_001004474 NP_001004474 Q8NGN2 O10S1_HUMAN Homo sapiens olfactory receptor, family 10, subfamily S, member 1 (OR10S1), mRNA. 14 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1) 36 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;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399) TGGGGTTCTCCGTTGTCATGG 0.478000 51 31 0 0 0.002445 0 0 GRID1 2894 broad.mit.edu 37 10 87482774 87482774 + Missense_Mutation SNP C T T TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr10:87482774C>T uc001kdl.1 - 11 2084 c.1983G>A c.(1981-1983)atG>atA p.M661I GRID1_uc009xsu.1_Non-coding_Transcript|GRID1_uc010qmf.1_Missense_Mutation_p.M232I NM_017551 NP_060021 Q9ULK0 GRID1_HUMAN Homo sapiens glutamate receptor, ionotropic, delta 1 (GRID1), mRNA. 661 cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5) 106 L-Glutamic Acid(DB00142) TGGGGTTGTCCATCCTGGACA 0.537000 Multiple Myeloma(13;0.14) 26 10 0 0 0.006214 0 0 C9orf50 375759 broad.mit.edu 37 9 132377787 132377787 + Missense_Mutation SNP G A A TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr9:132377787G>A uc004byc.4 - 3 1058 c.856C>T c.(856-858)Cgc>Tgc p.R286C C9orf50_uc022boo.1_Missense_Mutation_p.R285C NM_199350 NP_955382 Q5SZB4 CI050_HUMAN Homo sapiens chromosome 9 open reading frame 50 (C9orf50), mRNA. 286 central_nervous_system(1)|endometrium(4)|large_intestine(2)|ovary(1)|skin(1)|urinary_tract(1) 10 Ovarian(14;0.00556) TCCCAGTAGCGGAGCGTTGTG 0.647000 38 20 0 0 0.001216 0 0 DNAH5 1767 broad.mit.edu 37 5 13762974 13762974 + Missense_Mutation SNP C T T TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr5:13762974C>T uc003jfd.2 - 59 10180 c.10138G>A c.(10138-10140)Gaa>Aaa p.E3380K DNAH5_uc003jfc.2_5'UTR NM_001369 NP_001360 Q8TE73 DYH5_HUMAN Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA. 3380 Stalk (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) CTCAAAAATTCTATCACCTCT 0.363000 Kartagener syndrome 25 14 0 0 0.002450 0 0 FAM47A 158724 broad.mit.edu 37 X 34148220 34148220 + Missense_Mutation SNP C T T TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chrX:34148220C>T uc004ddg.3 - 0 2228 c.2176G>A c.(2176-2178)Gaa>Aaa p.E726K NM_203408 NP_981953 Q5JRC9 FA47A_HUMAN Homo sapiens family with sequence similarity 47, member A (FAM47A), mRNA. 726 NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2) 97 ACGTCAGGTTCATCAGGCTTT 0.418000 15 41 0 0 0.001951 0 0 METTL20 254013 broad.mit.edu 37 12 31814890 31814890 + Missense_Mutation SNP G A A rs143259576 TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr12:31814890G>A uc009zjr.3 + 1 212 c.3G>A c.(1-3)atG>atA p.M1I METTL20_uc001rkl.3_Missense_Mutation_p.M1I|METTL20_uc001rkm.3_Missense_Mutation_p.M1I NM_001135864 NP_776163 Q8IXQ9 MET20_HUMAN Homo sapiens methyltransferase like 20 (METTL20), transcript variant 3, mRNA. 1 cytoplasm protein methyltransferase activity lung(2)|stomach(1) 3 AAGGACTGATGGCTTTGAGTC 0.488000 115 47 0 0 0.003610 0 0 KLF14 136259 broad.mit.edu 37 7 130418365 130418365 + Missense_Mutation SNP A G G TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr7:130418365A>G uc003vqk.2 - 0 524 c.496T>C c.(496-498)Ttc>Ctc p.F166L NM_138693 NP_619638 Q8TD94 KLF14_HUMAN Homo sapiens Kruppel-like factor 14 (KLF14), mRNA. 166 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(3)|lung(1)|skin(1)|upper_aerodigestive_tract(1) 6 Melanoma(18;0.0435) CCTCCAGAGAACCCACCAGAG 0.756000 116 49 0 0 0.003610 0 0 OR13C3 138803 broad.mit.edu 37 9 107298321 107298321 + Missense_Mutation SNP C T T TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr9:107298321C>T uc004bcb.1 - 0 774 c.774G>A c.(772-774)atG>atA p.M258I NM_001001961 NP_001001961 Q8NGS6 O13C3_HUMAN Homo sapiens olfactory receptor, family 13, subfamily C, member 3 (OR13C3), mRNA. 258 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(1)|skin(1) 19 TGGCTGAATTCATTTGCAAGA 0.413000 42 28 0 0 0.001512 0 0 KAT7 11143 broad.mit.edu 37 17 47904136 47904136 + Missense_Mutation SNP G A A TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr17:47904136G>A uc002ipm.3 + 13 1925 c.1709G>A c.(1708-1710)gGa>gAa p.G570E KAT7_uc002ipl.2_Missense_Mutation_p.G540E|KAT7_uc010wma.2_Missense_Mutation_p.G431E|KAT7_uc010wmb.2_Missense_Mutation_p.G460E|KAT7_uc010wmc.2_Missense_Mutation_p.G401E|KAT7_uc010wmd.2_Missense_Mutation_p.G414E|KAT7_uc010wme.2_Missense_Mutation_p.G384E|KAT7_uc010wmf.2_Missense_Mutation_p.G235E|KAT7_uc010wmg.2_Missense_Mutation_p.G125E NM_007067 NP_008998 O95251 MYST2_HUMAN Homo sapiens K(lysine) acetyltransferase 7 (KAT7), transcript variant 1, mRNA. 570 DNA replication|histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation histone acetyltransferase complex histone acetyltransferase activity|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding TACTGGAAGGGAAAACACCTA 0.458000 37 18 0 0 0.001216 0 0 PCDHAC2 56134 broad.mit.edu 37 5 140167424 140167424 + Missense_Mutation SNP G A A TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr5:140167424G>A uc003lhb.2 + 0 1549 c.1549G>A c.(1549-1551)Gtg>Atg p.V517M PCDHAC2_uc003lha.2_Missense_Mutation_p.V517M|PCDHAC2_uc003lgz.3_Missense_Mutation_p.V517M NM_018900 NP_061723 Q9Y5I4 PCDC2_HUMAN Homo sapiens protocadherin alpha 1 (PCDHA1), transcript variant 1, mRNA. 531 Cadherin 5. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 45 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GAGCGGCAAGGTGTACGCACT 0.687000 94 38 0 0 0.006230 0 0 ZNF607 84775 broad.mit.edu 37 19 38190505 38190505 + Missense_Mutation SNP C T T TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr19:38190505C>T uc002ohc.2 - 4 1123 c.527G>A c.(526-528)gGg>gAg p.G176E ZNF607_uc002ohb.2_Missense_Mutation_p.G175E NM_032689 NP_116078 Q96SK3 ZN607_HUMAN Homo sapiens zinc finger protein 607 (ZNF607), transcript variant 1, mRNA. 176 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|lung(8)|urinary_tract(1) 27 UCEC - Uterine corpus endometrioid carcinoma (49;0.0775) GAAGACCTTCCCACATTCTTC 0.398000 47 34 0 0 0.002445 0 0 VAT1 10493 broad.mit.edu 37 17 41168464 41168464 + Missense_Mutation SNP T C C TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr17:41168464T>C uc002icm.1 - 4 1078 c.958A>G c.(958-960)Aac>Gac p.N320D VAT1_uc010cyw.1_Missense_Mutation_p.N186D|VAT1_uc010whk.1_Missense_Mutation_p.N252D NM_006373 NP_006364 Q99536 VAT1_HUMAN Homo sapiens vesicle amine transport protein 1 homolog (T. californica) (VAT1), mRNA. 320 cytoplasm|integral to membrane oxidoreductase activity|zinc ion binding endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|upper_aerodigestive_tract(1) 9 Breast(137;0.000717) BRCA - Breast invasive adenocarcinoma(366;0.156) ACAGCCCGGTTGGCCTGCAGC 0.637000 39 13 0 0 0.001855 0 0 KLK14 43847 broad.mit.edu 37 19 51582855 51582855 + Missense_Mutation SNP C T T TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr19:51582855C>T uc021uyk.1 - 4 584 c.365G>A c.(364-366)cGg>cAg p.R122Q KLK14_uc002pvs.1_Missense_Mutation_p.R122Q NM_022046 NP_071329 Q9P0G3 KLK14_HUMAN Homo sapiens kallikrein-related peptidase 14 (KLK14), mRNA. 122 Peptidase S1. epidermis morphogenesis|fertilization|negative regulation of G-protein coupled receptor protein signaling pathway|positive regulation of G-protein coupled receptor protein signaling pathway|proteolysis|seminal clot liquefaction extracellular space serine-type endopeptidase activity kidney(4)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(1) 11 all_neural(266;0.0199) OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00422) GTCGTGGGTCCGGGAGTTGTA 0.657000 16 10 0 0 0.001368 0 0 MAST4 375449 broad.mit.edu 37 5 66462170 66462170 + Missense_Mutation SNP A C C TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr5:66462170A>C uc021xzk.1 + 28 7471 c.7163A>C c.(7162-7164)gAg>gCg p.E2388A MAST4_uc003jut.2_Missense_Mutation_p.E2199A|MAST4_uc003juw.3_Missense_Mutation_p.E2127A|MAST4_uc003jux.3_Intron NM_001164664 NP_001158136 O15021 MAST4_HUMAN Homo sapiens microtubule associated serine/threonine kinase family member 4 (MAST4), transcript variant 3, mRNA. 2391 cytoplasm ATP binding|magnesium ion binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2) 13 Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245) Lung(70;0.011) GACAAGCTCGAGGCCGGCCTT 0.632000 OREG0016638 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 10 6 0 0 0.001168 0 0 IKBKE 9641 broad.mit.edu 37 1 206653816 206653816 + Missense_Mutation SNP G A A rs149600695 TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr1:206653816G>A uc001hdz.2 + 12 1945 c.1367G>A c.(1366-1368)cGg>cAg p.R456Q IKBKE_uc001hea.2_Missense_Mutation_p.R371Q|IKBKE_uc009xbv.2_Missense_Mutation_p.R456Q NM_014002 NP_001180250 Q14164 IKKE_HUMAN Homo sapiens inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase epsilon (IKBKE), transcript variant 1, mRNA. 456 Leucine-zipper. DNA damage response, signal transduction resulting in induction of apoptosis|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|innate immune response|negative regulation of type I interferon production|positive regulation of I-kappaB kinase/NF-kappaB cascade|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway PML body|cytosol|endosome membrane|plasma membrane ATP binding|IkappaB kinase activity|NF-kappaB-inducing kinase activity|protein binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|skin(2) 32 Breast(84;0.137) ACATGCAGACGGACTCTGGAA 0.622000 26 10 0 0 0.001368 0 0 LOC642846 642846 broad.mit.edu 37 12 9464385 9464385 + RNA SNP G A A TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr12:9464385G>A uc001qvp.2 + 13 c.1240G>A LOC642846_uc010sgp.1_Intron Homo sapiens DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11-like (LOC642846), non-coding RNA. GTGGTTGGAGGAAAGATGAGT 0.562000 59 28 0 0 0.006320 0 0 CYP4F3 4051 broad.mit.edu 37 19 15770039 15770039 + Silent SNP C T T TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr19:15770039C>T uc010xok.2 + 12 1457 c.1407C>T c.(1405-1407)atC>atT p.I469I CYP4F3_uc010xol.2_Silent_p.I469I|CYP4F3_uc002nbj.3_Silent_p.I469I|CYP4F3_uc010xom.2_Silent_p.I320I|CYP4F3_uc002nbk.3_Silent_p.I469I|CYP4F3_uc010xon.2_Silent_p.I179I NM_001199208 NP_001186137 Q08477 CP4F3_HUMAN Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 3 (CYP4F3), transcript variant 2, mRNA. 469 leukotriene metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1) 34 GGAACTGCATCGGGCAGGCGT 0.672000 16 6 0 0 0.006214 0 0 ACOX1 51 broad.mit.edu 37 17 73945303 73945304 + Missense_Mutation DNP GG AA AA TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr17:73945303_73945304GG>AA uc002jqe.3 - 11 2083_2084 c.1722_1723CC>TT c.(1720-1725)ttcctt>ttTTtt p.L575F ACOX1_uc010wsq.2_Missense_Mutation_p.L537F|ACOX1_uc010wsr.2_Missense_Mutation_p.L507F|ACOX1_uc002jqf.3_Missense_Mutation_p.L575F NM_004035 NP_001171968 Q15067 ACOX1_HUMAN Homo sapiens acyl-CoA oxidase 1, palmitoyl (ACOX1), transcript variant 1, mRNA. 575 fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|prostaglandin metabolic process|very long-chain fatty acid metabolic process peroxisomal matrix acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity|flavin adenine dinucleotide binding|protein N-terminus binding large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(1) 14 CTGACCTGAAGGAAATCCCCCG 0.391000 73 43 0 0 0.004672 0 0 F13B 2165 broad.mit.edu 37 1 197032122 197032122 + Frame_Shift_Del DEL T - - TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr1:197032122delT uc001gtt.1 - 1 174 c.130delA c.(130-132)agcfs p.S44fs NM_001994 NP_001985 P05160 F13B_HUMAN Homo sapiens coagulation factor XIII, B polypeptide (F13B), mRNA. 44 Sushi 1. blood coagulation extracellular region 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 AAGTAAAAGCTTTTAAAAGTA 0.358 --- 64 --- --- 54 --- STK39 27347 broad.mit.edu 37 2 169103872 169103892 + In_Frame_Del DEL GCCGCCGCCGCTGTCACCGGG - - TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr2:169103872_169103892delGCCGCCGCCGCTGTCACCGGG uc002uea.3 - 0 214_234 c.54_74delCCCGGTGACAGCGGCGGCGGC c.(52-75)gccccggtgacagcggcggcggcg>gcg p.18_25APVTAAAA>A NM_013233 NP_037365 Q9UEW8 STK39_HUMAN Homo sapiens serine threonine kinase 39 (STK39), mRNA. 18 Ala/Pro-rich. response to stress cytoplasm|nucleus ATP binding|protein binding|receptor signaling protein serine/threonine kinase activity central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|skin(2) 13 cggggccgccgccgccgccgctgtcaccggggccgccTGCT 0.814 --- 5 --- --- 3 --- MS4A2 2206 broad.mit.edu 37 11 59857807 59857815 + Splice_Site DEL AGGTAACAC - - TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr11:59857807_59857815delAGGTAACAC uc001nop.3 + 3 289 c.187_splice c.e3-1 p.V63_splice MS4A2_uc009ymu.3_Splice_Site_p.V63_splice|MS4A2_uc021qka.1_Intron NM_000139 NP_000130 Q01362 FCERB_HUMAN Homo sapiens membrane-spanning 4-domains, subfamily A, member 2 (Fc fragment of IgE, high affinity I, receptor for; beta polypeptide) (MS4A2), mRNA. 63 cell proliferation|humoral immune response integral to plasma membrane calcium channel activity endometrium(1)|large_intestine(4)|lung(9)|ovary(1)|upper_aerodigestive_tract(2) 17 all_epithelial(135;0.245) Omalizumab(DB00043) GTTTTTCTATAGGTAACACAAATTCTGAC 0.321 --- 89 --- --- 15 --- ARL6IP4 51329 broad.mit.edu 37 12 123466293 123466295 + In_Frame_Del DEL GAA - - TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr12:123466293_123466295delGAA uc001ued.3 + 2 760_762 c.705_707delGAA c.(703-708)aggaag>agg p.K240del ARL6IP4_uc001uec.3_In_Frame_Del_p.K232del|ARL6IP4_uc001uee.3_In_Frame_Del_p.K221del|ARL6IP4_uc001uef.3_In_Frame_Del_p.K221del|ARL6IP4_uc001ueg.3_Non-coding_Transcript|ARL6IP4_uc009zxt.3_In_Frame_Del_p.K106del|ARL6IP4_uc001uei.3_In_Frame_Del_p.K109del NM_018694 NP_061164 Q66PJ3 AR6P4_HUMAN Homo sapiens ADP-ribosylation-like factor 6 interacting protein 4 (ARL6IP4), transcript variant 1, mRNA. 240 Lys-rich. RNA splicing nucleus all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;6.11e-05)|Epithelial(86;0.000127)|BRCA - Breast invasive adenocarcinoma(302;0.107) acaagaggaggaagaagaagaag 0.571 --- 6 --- --- 3 --- ZNF219 51222 broad.mit.edu 37 14 21560753 21560758 + In_Frame_Del DEL GAGGCT - - rs71794845 TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr14:21560753_21560758delGAGGCT uc001vzr.2 - 2 1119_1124 c.698_703delAGCCTC c.(697-705)cagcctcca>cca p.QP233del ZNF219_uc001vzs.2_In_Frame_Del_p.QP233del|ZNF219_uc010aik.1_In_Frame_Del_p.QP233del NM_016423 NP_057507 Q9P2Y4 ZN219_HUMAN Homo sapiens zinc finger protein 219 (ZNF219), transcript variant 1, mRNA. 233 Missing (in Ref. 3; AAH00694). negative regulation of transcription, DNA-dependent integral to membrane|nucleus DNA binding|histamine receptor activity|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.Q233_P234delQP(6) breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(2) 8 all_cancers(95;0.00185) OV - Ovarian serous cystadenocarcinoma(11;9.86e-11)|Epithelial(56;1.27e-08)|all cancers(55;6.06e-08) GBM - Glioblastoma multiforme(265;0.0191) ggctggggtggaggctgaggctgagg 0.743 OREG0022565 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) --- 3 --- --- 5 --- HSP90AB4P 664618 broad.mit.edu 37 15 58983682 58983683 + Frame_Shift_Del DEL AC - - TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr15:58983682_58983683delAC uc002afh.1 - 2 1137_1138 c.1137_1138delGT c.(1135-1140)gagtatfs p.E379fs ADAM10_uc002afd.1_Intron|ADAM10_uc010bgc.1_Intron|ADAM10_uc010ugz.1_Intron|ADAM10_uc002afe.1_Intron Homo sapiens heat shock protein 90kDa alpha (cytosolic), class B member 4, pseudogene (HSP90AB4P), non-coding RNA. CAAGACACATACTCTGACAGAG 0.490 --- 4 --- --- 3 --- POLDIP2 26073 broad.mit.edu 37 17 26684390 26684391 + Splice_Site INS - C C rs148075904 by1000genomes TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88104fc0-ddc9-49b6-b136-61dbed5a7f3d 51784866-efa0-4ea4-b68a-331c2e4f4c57 g.chr17:26684390_26684391insC uc002haz.3 - 2 209 c.79_splice c.e2-1 p.P27_splice POLDIP2_uc010wag.2_Non-coding_Transcript|TMEM199_uc002hba.3_5'Flank|TMEM199_uc010wah.1_5'Flank NM_015584 NP_056399 Q9Y2S7 PDIP2_HUMAN Homo sapiens polymerase (DNA-directed), delta interacting protein 2 (POLDIP2), mRNA. 27 mitochondrial nucleoid|nucleus all_lung(13;0.000354)|Lung NSC(42;0.00115) UCEC - Uterine corpus endometrioid carcinoma (53;0.154) GCACAGAGCGGCTTTGCCACCG 0.762 --- 12 --- --- 7 ---