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 t_alt_count t_ref_count validation_alt_allele validation_method validation_status validation_tumor_sample pox qox pox_cutoff isArtifactMode oxoGCut AMPD3 272 broad.mit.edu 37 11 10508883 10508883 + Missense_Mutation SNP C C T TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr11:10508883C>T ENST00000444303.2 + 5 906 c.434C>T c.(433-435)cCc>cTc p.P145L AMPD3_ENST00000396554.3_Missense_Mutation_p.P313L NM_001172431.1 NP_001165902.1 Q01432 AMPD3_HUMAN adenosine monophosphate deaminase 3 304 AMP catabolic process|purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage cytosol AMP deaminase activity|metal ion binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(3)|skin(1) 25 all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291) AAGAGTAACCCCCACCGGGAC 0.527000 43 62 0 0 1 0 0 CHST4 10164 broad.mit.edu 37 16 71571180 71571180 + Silent SNP C C T TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr16:71571180C>T ENST00000338482.5 + 3 943 c.600C>T c.(598-600)atC>atT p.I200I ZNF19_ENST00000568446.1_Intron|CHST4_ENST00000539698.3_Silent_p.I200I|CHST4_ENST00000572450.1_Silent_p.I200I|RP11-510M2.9_ENST00000572693.1_RNA Q8NCG5 CHST4_HUMAN carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 4 200 cell-cell signaling|immune response|inflammatory response|N-acetylglucosamine metabolic process|protein sulfation integral to membrane|intrinsic to Golgi membrane|trans-Golgi network N-acetylglucosamine 6-O-sulfotransferase activity cervix(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|upper_aerodigestive_tract(1) 21 ACCTGCATATCGTGCACCTGG 0.607000 20 18 0 0 1 0 0 ARSB 411 broad.mit.edu 37 5 78077709 78077709 + Silent SNP T T C TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr5:78077709T>C ENST00000264914.4 - 7 1838 c.1302A>G c.(1300-1302)agA>agG p.R434R NM_000046.3 NP_000037.2 P15848 ARSB_HUMAN arylsulfatase B 434 lysosomal transport|lysosome organization lysosome arylsulfatase activity|metal ion binding|N-acetylgalactosamine-4-sulfatase activity breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 all_lung(232;0.000637)|Lung NSC(167;0.00173)|Ovarian(174;0.0105)|Prostate(461;0.192) OV - Ovarian serous cystadenocarcinoma(54;4.24e-44)|Epithelial(54;3.12e-39)|all cancers(79;3.02e-34) AATTTCCATGTCTAATTGCAG 0.498000 12 20 0 0 1 0 0 DNAH11 8701 broad.mit.edu 37 7 21856244 21856244 + Missense_Mutation SNP C C T TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr7:21856244C>T ENST00000328843.6 + 65 10544 c.10513C>T c.(10513-10515)Ccc>Tcc p.P3505S DNAH11_ENST00000409508.3_Missense_Mutation_p.P3498S Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 3505 AAA 5 (By similarity). microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 230 GGTGATAGATCCCCAGCAACA 0.483000 Kartagener syndrome 12 21 0 0 1 0 0 TRIM26 7726 broad.mit.edu 37 6 30164453 30164453 + Missense_Mutation SNP C C T TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr6:30164453C>T ENST00000454678.2 - 6 1041 c.605G>A c.(604-606)cGg>cAg p.R202Q TRIM26_ENST00000437089.1_Missense_Mutation_p.R202Q|TRIM26_ENST00000453195.1_Missense_Mutation_p.R202Q NM_003449.4 NP_003440.1 Q12899 TRI26_HUMAN tripartite motif containing 26 202 DNA binding|zinc ion binding p.R202Q(2) lung(1)|ovary(2) 3 GTGTTCCTCCCGCTCCCTCAG 0.632000 4 95 0 0 1 0 0 SPHKAP 80309 broad.mit.edu 37 2 228882591 228882591 + Silent SNP C C T TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr2:228882591C>T ENST00000392056.3 - 7 3025 c.2979G>A c.(2977-2979)agG>agA p.R993R SPHKAP_ENST00000344657.5_Silent_p.R993R NM_001142644.1 NP_001136116.1 Q2M3C7 SPKAP_HUMAN SPHK1 interactor, AKAP domain containing 993 cytoplasm protein binding NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 185 Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23) Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232) GCTTGTGTTTCCTCACAGCGG 0.537000 23 35 0 0 1 0 0 MYH2 4620 broad.mit.edu 37 17 10426472 10426472 + Missense_Mutation SNP G G A TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr17:10426472G>A ENST00000245503.5 - 39 5992 c.5608C>T c.(5608-5610)Ctt>Ttt p.L1870F MYH2_ENST00000532183.1_Intron|CTC-297N7.7_ENST00000581304.1_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.L1870F|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA NM_017534.5 NP_060004.3 Q9UKX2 MYH2_HUMAN myosin, heavy chain 2, skeletal muscle, adult 1870 muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP 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 AAATCTTGAAGCCTGAGAATA 0.338000 4 27 0 0 1 0 0 KRTAP5-5 439915 broad.mit.edu 37 11 1651284 1651284 + Missense_Mutation SNP A A G TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr11:1651284A>G ENST00000399676.2 + 1 252 c.214A>G c.(214-216)Atg>Gtg p.M72V NM_001001480.2 NP_001001480.2 Q701N2 KRA55_HUMAN keratin associated protein 5-5 72 8 X 4 AA repeats of C-C-X-P. keratin filament endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|urinary_tract(1) 33 all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082) CTGCAAGCCCATGTGCTGCTG 0.667000 5 194 0 0 1 0 0 KBTBD8 84541 broad.mit.edu 37 3 67058388 67058388 + Missense_Mutation SNP G G A TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr3:67058388G>A ENST00000295568.4 + 4 1438 c.1307G>A c.(1306-1308)gGt>gAt p.G436D KBTBD8_ENST00000460576.1_Missense_Mutation_p.G20D|KBTBD8_ENST00000417314.2_Missense_Mutation_p.G462D NM_032505.2 NP_115894.2 Q8NFY9 KBTB8_HUMAN kelch repeat and BTB (POZ) domain containing 8 462 breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(4)|ovary(2)|prostate(1) 20 Lung NSC(201;0.0765) BRCA - Breast invasive adenocarcinoma(55;6.02e-06)|KIRC - Kidney renal clear cell carcinoma(39;0.105)|Kidney(39;0.125) GACTACTGGGGTTTCTTAACC 0.358000 20 37 0 0 1 0 0 MYOF 26509 broad.mit.edu 37 10 95169418 95169418 + Missense_Mutation SNP C C T TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr10:95169418C>T ENST00000371501.4 - 6 634 c.512G>A c.(511-513)gGg>gAg p.G171E MYOF_ENST00000371489.1_Missense_Mutation_p.G171E|MYOF_ENST00000371502.4_Missense_Mutation_p.G171E|MYOF_ENST00000358334.5_Missense_Mutation_p.G171E|MYOF_ENST00000359263.4_Missense_Mutation_p.G171E Q9NZM1 MYOF_HUMAN myoferlin 171 blood circulation|muscle contraction|plasma membrane repair caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane phospholipid binding|protein binding NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 67 CGACACCGTCCCAACTGGCCC 0.547000 89 177 0 0 1 0 0 PTPRU 10076 broad.mit.edu 37 1 29647298 29647298 + Silent SNP C C T TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr1:29647298C>T ENST00000356870.3 + 27 3917 c.3807C>T c.(3805-3807)atC>atT p.I1269I PTPRU_ENST00000373779.3_Silent_p.I1263I|PTPRU_ENST00000428026.2_Silent_p.I1260I|PTPRU_ENST00000460170.2_Silent_p.I1269I|PTPRU_ENST00000345512.3_Silent_p.I1273I|PTPRU_ENST00000323874.8_Silent_p.I1269I NM_133177.3 NP_573438.3 Q92729 PTPRU_HUMAN protein tyrosine phosphatase, receptor type, U 1273 Tyrosine-protein phosphatase 2. canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway cell-cell junction|integral to plasma membrane beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 79 Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123) Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871) GCACCTCCATCGTCATGCTCA 0.637000 19 31 0 0 1 0 0 NPY4R 5540 broad.mit.edu 37 10 47087905 47087905 + Silent SNP C C T TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr10:47087905C>T ENST00000374312.1 + 3 1541 c.1122C>T c.(1120-1122)ccC>ccT p.P374P NPY4R_ENST00000395716.1_Silent_p.P374P NM_005972.4 NP_005963.3 neuropeptide Y receptor Y4 GGTCCAATCCCATTTAACCAG 0.587000 11 46 0 0 1 0 0 OR8B8 26493 broad.mit.edu 37 11 124310332 124310332 + Missense_Mutation SNP G G A TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr11:124310332G>A ENST00000328064.2 - 1 722 c.650C>T c.(649-651)tCc>tTc p.S217F NM_012378.1 NP_036510.1 Q15620 OR8B8_HUMAN olfactory receptor, family 8, subfamily B, member 8 217 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) GAGAGCATAGGAAATGAAGAT 0.483000 28 26 0 0 1 0 0 KMT2D 8085 broad.mit.edu 37 12 49441821 49441821 + Missense_Mutation SNP C C T TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr12:49441821C>T ENST00000301067.7 - 14 4162 c.4163G>A c.(4162-4164)cGg>cAg p.R1388Q NM_003482.3 NP_003473.3 lysine (K)-specific methyltransferase 2D p.R1115L(1) CTCTGCCCCCCGGCCAAAGCT 0.547000 9 39 0 0 1 0 0 FAM135B 51059 broad.mit.edu 37 8 139155261 139155261 + Missense_Mutation SNP C C T TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr8:139155261C>T ENST00000395297.1 - 16 3802 c.3632G>A c.(3631-3633)cGa>cAa p.R1211Q NM_015912.3 NP_056996.2 Q49AJ0 F135B_HUMAN family with sequence similarity 135, member B 1211 p.R1211Q(2) 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) TTACCTAATTCGGGATATGGA 0.393000 HNSCC(54;0.14) 10 29 0 0 1 0 0 ARHGAP26 23092 broad.mit.edu 37 5 142586826 142586826 + Silent SNP C C T TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr5:142586826C>T ENST00000378004.3 + 21 2407 c.2052C>T c.(2050-2052)tcC>tcT p.S684S ARHGAP26_ENST00000274498.4_Silent_p.S684S|ARHGAP26_ENST00000486650.1_Intron NM_001135608.1 NP_001129080.1 Q9UNA1 RHG26_HUMAN Rho GTPase activating protein 26 684 Ser-rich. actin cytoskeleton organization|filopodium assembly|nervous system development|small GTPase mediated signal transduction cytoskeleton|cytosol|focal adhesion cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(7)|ovary(1) 25 all_hematologic(541;0.0416) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) CGGCGCCATCCAGCCCTATGC 0.557000 29 48 0 0 1 0 0 IQUB 154865 broad.mit.edu 37 7 123105006 123105006 + Missense_Mutation SNP G G A TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr7:123105006G>A ENST00000466202.1 - 10 2215 c.1639C>T c.(1639-1641)Ctt>Ttt p.L547F IQUB_ENST00000434450.1_Missense_Mutation_p.L547F|IQUB_ENST00000324698.6_Missense_Mutation_p.L547F Q8NA54 IQUB_HUMAN IQ motif and ubiquitin domain containing 547 breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1) 45 CTCATCATAAGGTCAACCTCT 0.308000 61 62 0 0 1 0 0 PRAMEF20 645425 broad.mit.edu 37 1 13743091 13743091 + Missense_Mutation SNP C C T TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr1:13743091C>T ENST00000316412.5 + 2 379 c.280C>T c.(280-282)Cgt>Tgt p.R94C PRAMEF20_ENST00000602960.1_Missense_Mutation_p.R94C NM_001099852.1 NP_001093322.1 Q5VT98 PRA20_HUMAN PRAME family member 20 94 endometrium(1)|kidney(1)|large_intestine(1)|ovary(1) 4 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.5e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000156)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) CCACAGGGTTCGTCTCAGGTG 0.602000 17 18 0 0 1 0 0 PIANP 196500 broad.mit.edu 37 12 6804720 6804720 + Missense_Mutation SNP C C T TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr12:6804720C>T ENST00000534837.1 - 5 932 c.703G>A c.(703-705)Gga>Aga p.G235R PIANP_ENST00000540656.1_Missense_Mutation_p.G235R|PIANP_ENST00000320591.5_Missense_Mutation_p.G235R NM_001244014.1 NP_001230943.1 PILR alpha associated neural protein ACAGTGACTCCAGCCGGGGAC 0.701000 30 54 0 0 1 0 0 CBLC 23624 broad.mit.edu 37 19 45293285 45293285 + Silent SNP C C T TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr19:45293285C>T ENST00000270279.3 + 6 1005 c.942C>T c.(940-942)acC>acT p.T314T CBLC_ENST00000341505.4_Silent_p.T268T NM_012116.3 NP_036248.3 Q9ULV8 CBLC_HUMAN Cbl proto-oncogene C, E3 ubiquitin protein ligase 314 Cbl-PTB.|SH2-like. cell surface receptor linked signaling pathway|negative regulation of epidermal growth factor receptor activity|negative regulation of MAP kinase activity|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus calcium ion binding|epidermal growth factor receptor binding|phosphotyrosine binding|SH3 domain binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding breast(1)|kidney(1)|lung(6)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 Lung NSC(12;0.00136)|all_lung(12;0.00371) Ovarian(192;0.231) ATGGAAAGACCCACAACCCAG 0.612000 M AML 36 69 0 0 1 0 0 ABR 29 broad.mit.edu 37 17 962063 962063 + Silent SNP C C T TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr17:962063C>T ENST00000544583.2 - 11 1688 c.1089G>A c.(1087-1089)aaG>aaA p.K363K ABR_ENST00000291107.2_Silent_p.K372K|ABR_ENST00000536794.2_Silent_p.K191K|ABR_ENST00000574437.1_Silent_p.K363K|ABR_ENST00000302538.5_Silent_p.K409K NM_001159746.2 NP_001153218.1 Q12979 ABR_HUMAN active BCR-related 409 PH. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 39 UCEC - Uterine corpus endometrioid carcinoma (25;0.0228) CAAACATCTTCTTCTTCAGGC 0.572000 OREG0024068 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 10 24 0 0 1 0 0 HTR3E 285242 broad.mit.edu 37 3 183824092 183824092 + Missense_Mutation SNP G G A TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr3:183824092G>A ENST00000415389.2 + 8 1568 c.1102G>A c.(1102-1104)Gaa>Aaa p.E368K HTR3E_ENST00000335304.2_Missense_Mutation_p.E383K|HTR3E_ENST00000425359.2_Missense_Mutation_p.E353K|HTR3E_ENST00000440596.2_Missense_Mutation_p.E394K|HTR3E_ENST00000436361.2_Missense_Mutation_p.E368K NM_001256613.1|NM_198313.2 NP_001243542.1|NP_938055.1 A5X5Y0 5HT3E_HUMAN 5-hydroxytryptamine (serotonin) receptor 3E, ionotropic 368 integral to membrane|plasma membrane|postsynaptic membrane extracellular ligand-gated ion channel activity|receptor activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 40 all_cancers(143;1.46e-10)|Ovarian(172;0.0303) Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22) GCCCCAGAAGGAAAATAAGGG 0.667000 6 19 0 0 1 0 0 CCDC73 493860 broad.mit.edu 37 11 32705054 32705054 + Missense_Mutation SNP G G A TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr11:32705054G>A ENST00000531481.1 - 7 733 c.457C>T c.(457-459)Ccc>Tcc p.P153S CCDC73_ENST00000335185.5_Intron|CCDC73_ENST00000534415.1_Intron Q6ZRK6 CCD73_HUMAN coiled-coil domain containing 73 0 NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2) 51 Breast(20;0.112) ATCCAGATGGGGGAAAATATG 0.303000 4 16 0 0 1 0 0 STAT4 6775 broad.mit.edu 37 2 191934455 191934455 + Missense_Mutation SNP C C T TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr2:191934455C>T ENST00000392320.2 - 6 822 c.508G>A c.(508-510)Gaa>Aaa p.E170K STAT4_ENST00000358470.4_Missense_Mutation_p.E170K NM_003151.3 NP_003142.1 Q14765 STAT4_HUMAN signal transducer and activator of transcription 4 170 JAK-STAT cascade cytoplasm|nucleus calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity breast(4)|endometrium(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 42 OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204) TAGTCAAATTCGTCTTGCAGA 0.323000 19 38 0 0 1 0 0 MRPL24 79590 broad.mit.edu 37 1 156708370 156708370 + Missense_Mutation SNP G G A TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr1:156708370G>A ENST00000368211.4 - 2 265 c.127C>T c.(127-129)Cca>Tca p.P43S MRPL24_ENST00000361531.2_Missense_Mutation_p.P43S NM_024540.3|NM_145729.2 NP_078816.2|NP_663781.1 Q96A35 RM24_HUMAN mitochondrial ribosomal protein L24 43 Poly-Arg. translation mitochondrion|ribosome structural constituent of ribosome endometrium(1)|large_intestine(1)|lung(4) 6 all_hematologic(923;0.088)|Hepatocellular(266;0.158) ACAACCACTGGGCGCCGCCTG 0.592000 63 45 0 0 1 0 0 POTEF 728378 broad.mit.edu 37 2 130832977 130832977 + Missense_Mutation SNP G G A TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr2:130832977G>A ENST00000357462.5 - 15 2161 c.2068C>T c.(2068-2070)Ctt>Ttt p.L690F POTEF_ENST00000360967.5_3'UTR|POTEF_ENST00000409914.2_Missense_Mutation_p.L690F|POTEF_ENST00000361163.4_3'UTR A5A3E0 POTEF_HUMAN POTE ankyrin domain family, member F 690 cell cortex ATP binding breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 53 GCCTTTAAAAGATTATCATTC 0.433000 14 23 0 0 1 0 0 ADAM22 53616 broad.mit.edu 37 7 87760750 87760750 + Missense_Mutation SNP C C T TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr7:87760750C>T ENST00000439864.1 + 11 1207 c.992C>T c.(991-993)tCg>tTg p.S331L ADAM22_ENST00000398201.4_Splice_Site_p.S331_splice|ADAM22_ENST00000265727.7_Splice_Site_p.S331_splice|ADAM22_ENST00000315984.7_Splice_Site_p.S331_splice|ADAM22_ENST00000398204.4_Splice_Site_p.S331_splice|ADAM22_ENST00000398209.3_Splice_Site_p.S331_splice Q9P0K1 ADA22_HUMAN ADAM metallopeptidase domain 22 331 Peptidase M12B. cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis integral to membrane integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3) 53 Esophageal squamous(14;0.00202) STAD - Stomach adenocarcinoma(171;0.215) CACCTTTTTTCGTACGTAACT 0.328000 18 29 0 0 1 0 0 GRID2 2895 broad.mit.edu 37 4 94411887 94411887 + Silent SNP C C T TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr4:94411887C>T ENST00000282020.4 + 12 2214 c.1956C>T c.(1954-1956)ctC>ctT p.L652L GRID2_ENST00000510992.1_Silent_p.L557L NM_001510.2 NP_001501.2 O43424 GRID2_HUMAN glutamate receptor, ionotropic, delta 2 652 glutamate signaling pathway cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 Hepatocellular(203;0.114)|all_hematologic(202;0.177) OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191) L-Glutamic Acid(DB00142) CGGCAAACCTCGCTGCTTTCC 0.453000 21 43 0 0 1 0 0 KMT2D 8085 broad.mit.edu 37 12 49441820 49441820 + Silent SNP C C T TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr12:49441820C>T ENST00000301067.7 - 14 4163 c.4164G>A c.(4162-4164)cgG>cgA p.R1388R NM_003482.3 NP_003473.3 lysine (K)-specific methyltransferase 2D CCTCTGCCCCCCGGCCAAAGC 0.552000 10 40 0 0 1 0 0 STK38 11329 broad.mit.edu 37 6 36464552 36464552 + Silent SNP G G A TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr6:36464552G>A ENST00000229812.7 - 13 1488 c.1203C>T c.(1201-1203)atC>atT p.I401I NM_007271.2 NP_009202.1 Q15208 STK38_HUMAN serine/threonine kinase 38 401 AGC-kinase C-terminal. intracellular protein kinase cascade|negative regulation of MAP kinase activity cytoplasm|MLL5-L complex ATP binding|magnesium ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine kinase activity NS(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 CAATGCTTTTGATTTCAATAG 0.373000 4 34 0 0 1 0 0 XIRP2 129446 broad.mit.edu 37 2 168099105 168099105 + Silent SNP C C T TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr2:168099105C>T ENST00000409195.1 + 9 1292 c.1203C>T c.(1201-1203)ttC>ttT p.F401F XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000295237.9_Silent_p.F401F|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409273.1_Silent_p.F179F NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 226 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 AAGAGACTTTCAAGCCATCAT 0.423000 25 59 0 0 1 0 0 C1orf127 148345 broad.mit.edu 37 1 11008739 11008739 + Nonsense_Mutation SNP C C A TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr1:11008739C>A ENST00000377004.4 - 12 1452 c.1453G>T c.(1453-1455)Gag>Tag p.E485* C1orf127_ENST00000377008.4_Nonsense_Mutation_p.E318* NM_001170754.1 NP_001164225.1 B7ZLG7 B7ZLG7_HUMAN chromosome 1 open reading frame 127 336 NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(5) 32 Ovarian(185;0.249) Lung NSC(185;0.000226)|all_lung(284;0.000302)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731) STAD - Stomach adenocarcinoma(5;0.0224) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.71e-07)|COAD - Colon adenocarcinoma(227;7.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000305)|Kidney(185;0.000785)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|READ - Rectum adenocarcinoma(331;0.0509) TCTACAGGCTCCGAGGGGAGC 0.672000 31 35 3.80469e-20 3.95332e-20 1 1 0 ZNF215 7762 broad.mit.edu 37 11 6977274 6977274 + Missense_Mutation SNP G G A TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr11:6977274G>A ENST00000278319.5 + 7 1654 c.1066G>A c.(1066-1068)Gaa>Aaa p.E356K ZNF215_ENST00000529903.1_Intron|ZNF215_ENST00000414517.2_Missense_Mutation_p.E356K|ZNF215_ENST00000527171.1_3'UTR NM_013250.2 NP_037382.2 Q9UL58 ZN215_HUMAN zinc finger protein 215 356 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(4) 32 Epithelial(150;6.33e-08)|BRCA - Breast invasive adenocarcinoma(625;0.134) TTCAGAATATGAATATGGGAA 0.338000 12 24 0 0 1 0 0 RP11-287D1.3 0 broad.mit.edu 37 2 74589839 74589839 + Missense_Mutation SNP C C T TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr2:74589839C>T ENST00000451608.2 - 3 285 c.286G>A c.(286-288)Gcc>Acc p.A96T DCTN1_ENST00000409567.3_Missense_Mutation_p.A1158T|DCTN1_ENST00000409240.1_Missense_Mutation_p.A1141T|DCTN1_ENST00000409438.1_Missense_Mutation_p.A1044T|DCTN1_ENST00000409868.1_Missense_Mutation_p.A1161T|DCTN1_ENST00000407639.2_Missense_Mutation_p.A1049T|DCTN1_ENST00000394003.3_Missense_Mutation_p.A1176T|DCTN1_ENST00000361874.3_Missense_Mutation_p.A1183T ATAAGTTGGGCCGACGGGCTC 0.567000 3 12 0 0 1 0 0 KIF26A 26153 broad.mit.edu 37 14 104640152 104640152 + Silent SNP C C T TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr14:104640152C>T ENST00000315264.7 + 9 1938 c.1560C>T c.(1558-1560)gcC>gcT p.A520A KIF26A_ENST00000423312.2_Silent_p.A659A Q9ULI4 KI26A_HUMAN kinesin family member 26A 659 Kinesin-motor. blood coagulation|enteric nervous system development|microtubule-based movement|negative regulation of signal transduction|regulation of cell growth by extracellular stimulus cytosol|microtubule ATP binding|microtubule binding|microtubule motor activity autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2) 21 all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767) Epithelial(46;0.152) Epithelial(152;0.161) CCCTGTCGGCCCTGGGCAGCG 0.706000 16 29 0 0 1 0 0 ZDHHC8 29801 broad.mit.edu 37 22 20129011 20129011 + Silent SNP C C T TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr22:20129011C>T ENST00000334554.7 + 9 1224 c.1083C>T c.(1081-1083)ttC>ttT p.F361F ZDHHC8_ENST00000320602.7_Silent_p.F269F|ZDHHC8_ENST00000405930.3_Silent_p.F361F|ZDHHC8_ENST00000468112.1_3'UTR NM_013373.3 NP_037505.1 Q9ULC8 ZDHC8_HUMAN zinc finger, DHHC-type containing 8 361 cytoplasmic vesicle membrane|integral to membrane acyltransferase activity|zinc ion binding breast(2)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(1)|prostate(1) 20 Colorectal(54;0.0993) GGCCGGCTTTCCCCACGGGTC 0.657000 10 15 0 0 1 0 0 OTOA 146183 broad.mit.edu 37 16 21771858 21771858 + Nonsense_Mutation SNP G G A rs144955773 TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr16:21771858G>A ENST00000388958.3 + 28 3418 c.3417G>A c.(3415-3417)tgG>tgA p.W1139* OTOA_ENST00000388957.3_Nonsense_Mutation_p.W815*|OTOA_ENST00000286149.4_Nonsense_Mutation_p.W1153*|OTOA_ENST00000388956.4_Nonsense_Mutation_p.W1060* NM_144672.3 NP_653273.3 Q7RTW8 OTOAN_HUMAN otoancorin 1153 sensory perception of sound anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1) 46 GBM - Glioblastoma multiforme(48;0.0414) AGCTCCTGTGGTGAGTGGCCT 0.537000 14 20 0 0 1 0 0 ANO5 203859 broad.mit.edu 37 11 22294440 22294440 + Missense_Mutation SNP A A T TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr11:22294440A>T ENST00000324559.8 + 19 2457 c.2140A>T c.(2140-2142)Act>Tct p.T714S ANO5_ENST00000532043.1_3'UTR NM_001142649.1|NM_213599.2 NP_001136121.1|NP_998764.1 Q75V66 ANO5_HUMAN anoctamin 5 714 chloride channel complex|endoplasmic reticulum membrane chloride channel activity breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 GAAACTTACCACTCAATACAG 0.398000 19 35 0 0 1 0 0 XIRP2 129446 broad.mit.edu 37 2 168102534 168102534 + Silent SNP G G A TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr2:168102534G>A ENST00000409195.1 + 9 4721 c.4632G>A c.(4630-4632)aaG>aaA p.K1544K XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000295237.9_Silent_p.K1544K|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409273.1_Silent_p.K1322K NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 1369 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 GAGTAGAAAAGATAGAAATTA 0.358000 16 30 0 0 1 0 0 ALOX5 240 broad.mit.edu 37 10 45907653 45907653 + Missense_Mutation SNP A A G TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr10:45907653A>G ENST00000374391.2 + 4 499 c.446A>G c.(445-447)aAc>aGc p.N149S ALOX5_ENST00000542434.1_Missense_Mutation_p.N149S NM_000698.3|NM_001256153.1 NP_000689.1|NP_001243082.1 P09917 LOX5_HUMAN arachidonate 5-lipoxygenase 149 Lipoxygenase. hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process cytosol|nuclear envelope lumen|nuclear matrix|nuclear membrane arachidonate 5-lipoxygenase activity|iron ion binding|lipoxygenase activity|protein binding breast(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 37 Lung SC(717;0.0257) Diethylcarbamazine(DB00711)|Hydrocortisone(DB00741)|Leflunomide(DB01097)|Masoprocol(DB00179)|Meclofenamic acid(DB00939)|Minocycline(DB01017)|Montelukast(DB00471)|Quinacrine(DB01103)|Vitamin E(DB00163)|Zileuton(DB00744) ATGGAGTGGAACCCTGGCTTC 0.498000 16 27 0 0 1 0 0 MYH15 22989 broad.mit.edu 37 3 108129437 108129437 + Silent SNP G G A TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr3:108129437G>A ENST00000273353.3 - 32 4604 c.4548C>T c.(4546-4548)aaC>aaT p.N1516N NM_014981.1 NP_055796.1 Q9Y2K3 MYH15_HUMAN myosin, heavy chain 15 1516 myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 105 TACCTTGGAGGTTCTTGTTCT 0.547000 19 30 0 0 1 0 0 PDZD4 57595 broad.mit.edu 37 X 153070593 153070593 + Nonsense_Mutation SNP C C A TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chrX:153070593C>A ENST00000164640.4 - 7 912 c.721G>T c.(721-723)Gag>Tag p.E241* PDZD4_ENST00000393758.2_Nonsense_Mutation_p.E166*|PDZD4_ENST00000544474.1_Nonsense_Mutation_p.E132*|PDZD4_ENST00000475140.1_5'UTR NM_032512.2 NP_115901.2 Q76G19 PDZD4_HUMAN PDZ domain containing 4 241 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) GCACGCAGCTCCCCCTCATTC 0.612000 26 21 7.01153e-11 7.15499e-11 1 1 0 FRAS1 80144 broad.mit.edu 37 4 79429941 79429941 + Silent SNP G G A TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr4:79429941G>A ENST00000264895.6 + 63 10001 c.9561G>A c.(9559-9561)aaG>aaA p.K3187K NM_025074.6 NP_079350.5 Q86XX4 FRAS1_HUMAN Fraser syndrome 1 3182 cell communication integral to membrane|plasma membrane metal ion binding p.K3187N(1) breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4) 103 AAGGAGTCAAGAAATCCCCCT 0.547000 8 14 0 0 1 0 0 RGS7BP 401190 broad.mit.edu 37 5 63803625 63803625 + Missense_Mutation SNP C C T TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr5:63803625C>T ENST00000334025.2 + 2 579 c.253C>T c.(253-255)Cgg>Tgg p.R85W RGS7BP_ENST00000508162.1_Intron NM_001029875.1|NM_001271890.1|NM_001271891.1 NP_001025046.1|NP_001258819.1|NP_001258820.1 Q6MZT1 R7BP_HUMAN regulator of G-protein signaling 7 binding protein 85 negative regulation of signal transduction cytoplasm|nucleus|plasma membrane breast(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)|stomach(1) 11 Lung NSC(810;0.000518)|Prostate(74;0.0435)|Ovarian(174;0.186) Lung(70;0.147) CCCCTCACTCCGGGCGGAAAT 0.517000 11 19 0 0 1 0 0 PCSK6 5046 broad.mit.edu 37 15 101933623 101933623 + Nonsense_Mutation SNP G G A TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr15:101933623G>A ENST00000348070.1 - 9 999 c.1000C>T c.(1000-1002)Cag>Tag p.Q334* PCSK6_ENST00000331826.7_Nonsense_Mutation_p.Q169*|PCSK6_ENST00000398181.2_Nonsense_Mutation_p.Q334*|PCSK6_ENST00000358417.3_Nonsense_Mutation_p.Q334*|PCSK6_ENST00000561177.1_5'UTR|PCSK6_ENST00000344273.2_Nonsense_Mutation_p.Q334* NM_002570.3|NM_138320.1 NP_002561.1|NP_612193.1 P29122 PCSK6_HUMAN proprotein convertase subtilisin/kexin type 6 335 Catalytic. glycoprotein metabolic process|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|regulation of BMP signaling pathway|secretion by cell cell surface|endomembrane system|endoplasmic reticulum|extracellular matrix|extracellular space|Golgi lumen|membrane|soluble fraction eukaryotic cell surface binding|heparin binding|nerve growth factor binding|serine-type endopeptidase activity breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505) OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23) CCCAGGCCCTGCCGGCCCTGG 0.607000 21 23 0 0 1 0 0 SYNE2 23224 broad.mit.edu 37 14 64587767 64587767 + Silent SNP C C T TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr14:64587767C>T ENST00000357395.3 + 69 13445 c.2301C>T c.(2299-2301)ttC>ttT p.F767F SYNE2_ENST00000344113.4_Silent_p.F4382F|SYNE2_ENST00000555002.1_Silent_p.F1016F|SYNE2_ENST00000554584.1_Silent_p.F4397F|SYNE2_ENST00000358025.3_Silent_p.F4382F|SYNE2_ENST00000553455.1_Silent_p.F101F|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000394768.2_Silent_p.F767F Q8WXH0 SYNE2_HUMAN spectrin repeat containing, nuclear envelope 2 4382 centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc actin binding|protein binding NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4) 224 all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681) AAAAAGATTTCCAGCAGCAAC 0.443000 13 40 0 0 1 0 0 DACH1 1602 broad.mit.edu 37 13 72134020 72134020 + Missense_Mutation SNP G G A TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr13:72134020G>A ENST00000305425.4 - 5 1795 c.1373C>T c.(1372-1374)cCa>cTa p.P458L DACH1_ENST00000313174.7_Intron|DACH1_ENST00000359684.2_Missense_Mutation_p.P510L|DACH1_ENST00000354591.4_Intron NM_080759.4 NP_542937.2 Q9UI36 DACH1_HUMAN dachshund homolog 1 (Drosophila) 508 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus DNA binding|nucleotide binding|protein binding NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 41 Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198) GBM - Glioblastoma multiforme(99;0.00032) ATGTGATGATGGGTGACTGCC 0.567000 11 8 0 0 1 0 0 OR5C1 392391 broad.mit.edu 37 9 125551211 125551211 + Translation_Start_Site SNP G G A TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr9:125551211G>A ENST00000373680.2 + 0 62 NM_001001923.1 NP_001001923.1 Q8NGR4 OR5C1_HUMAN olfactory receptor, family 5, subfamily C, member 1 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(5)|skin(1) 20 TGTCCAGTAGGATGAACTCAG 0.572000 16 40 0 0 1 0 0 HNRNPCL1 343069 broad.mit.edu 37 1 12907871 12907871 + Missense_Mutation SNP T T C TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr1:12907871T>C ENST00000317869.6 - 2 497 c.272A>G c.(271-273)aAc>aGc p.N91S NM_001013631.1|NM_001136561.2|NM_001146181.1 NP_001013653.1|NP_001130033.2|NP_001139653.1 heterogeneous nuclear ribonucleoprotein C-like 1 NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|stomach(2) 29 GTTTCCTCGGTTCACTTTTGG 0.483000 14 95 0 0 1 0 0 RP1 6101 broad.mit.edu 37 8 55539861 55539861 + Missense_Mutation SNP G G A TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr8:55539861G>A ENST00000220676.1 + 4 3567 c.3419G>A c.(3418-3420)gGa>gAa p.G1140E NM_006269.1 NP_006260.1 P56715 RP1_HUMAN retinitis pigmentosa 1 (autosomal dominant) 1140 axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2) 169 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) AACCTAAAGGGAAGTATGAAT 0.408000 26 31 0 0 1 0 0 ARHGEF10L 55160 broad.mit.edu 37 1 18014233 18014233 + Missense_Mutation SNP C C T TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr1:18014233C>T ENST00000361221.3 + 27 3334 c.3175C>T c.(3175-3177)Ctc>Ttc p.L1059F ARHGEF10L_ENST00000167825.4_Missense_Mutation_p.L762F|ARHGEF10L_ENST00000434513.1_Missense_Mutation_p.L1054F|ARHGEF10L_ENST00000375408.3_Missense_Mutation_p.L832F|ARHGEF10L_ENST00000375415.1_Missense_Mutation_p.L1020F|ARHGEF10L_ENST00000452522.1_Missense_Mutation_p.L1020F|ARHGEF10L_ENST00000469726.1_3'UTR NM_018125.3 NP_060595.3 Q9HCE6 ARGAL_HUMAN Rho guanine nucleotide exchange factor (GEF) 10-like 1059 regulation of Rho protein signal transduction cytoplasm Rho guanyl-nucleotide exchange factor activity NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 43 Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204) GACCACCTTCCTCCTGCCAGG 0.627000 7 13 0 0 1 0 0 C1orf127 148345 broad.mit.edu 37 1 11008740 11008740 + Silent SNP C C T TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr1:11008740C>T ENST00000377004.4 - 12 1451 c.1452G>A c.(1450-1452)tcG>tcA p.S484S C1orf127_ENST00000377008.4_Silent_p.S317S NM_001170754.1 NP_001164225.1 B7ZLG7 B7ZLG7_HUMAN chromosome 1 open reading frame 127 335 p.S317S(1)|p.S484S(1) NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(5) 32 Ovarian(185;0.249) Lung NSC(185;0.000226)|all_lung(284;0.000302)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731) STAD - Stomach adenocarcinoma(5;0.0224) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.71e-07)|COAD - Colon adenocarcinoma(227;7.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000305)|Kidney(185;0.000785)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|READ - Rectum adenocarcinoma(331;0.0509) CTACAGGCTCCGAGGGGAGCG 0.672000 31 36 0 0 1 0 0 COG4 25839 broad.mit.edu 37 16 70515000 70515000 + Silent SNP C C T TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr16:70515000C>T ENST00000323786.5 - 19 2304 c.2283G>A c.(2281-2283)acG>acA p.T761T NM_001195139.1|NM_015386.2 NP_001182068.1|NP_056201.2 Q9H9E3 COG4_HUMAN component of oligomeric golgi complex 4 757 E domain; essential for proper cell surface glycosylation. Golgi organization|Golgi vesicle prefusion complex stabilization|protein transport|retrograde vesicle-mediated transport, Golgi to ER Golgi membrane|Golgi transport complex protein binding p.T761T(1) breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|pancreas(1)|prostate(2) 33 Ovarian(137;0.0694) TGAGGCGCCACGTCAATGGGC 0.582000 3 47 0 0 1 0 0 PPP1R3C 5507 broad.mit.edu 37 10 93390343 93390343 + Missense_Mutation SNP G G A TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr10:93390343G>A ENST00000238994.5 - 2 379 c.295C>T c.(295-297)Cat>Tat p.H99Y NM_005398.5 NP_005389.1 Q9UQK1 PPR3C_HUMAN protein phosphatase 1, regulatory subunit 3C 99 protein serine/threonine phosphatase activity breast(1)|endometrium(1)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(1) 12 Colorectal(252;0.235) GAGAAGACATGGATCGCAGTG 0.498000 19 39 0 0 1 0 0 ABCA13 154664 broad.mit.edu 37 7 48634373 48634373 + Missense_Mutation SNP T T A TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr7:48634373T>A ENST00000435803.1 + 58 14732 c.14708T>A c.(14707-14709)gTt>gAt p.V4903D ABCA13_ENST00000544596.1_Missense_Mutation_p.V633D NM_152701.3 NP_689914.2 Q86UQ4 ABCAD_HUMAN ATP-binding cassette, sub-family A (ABC1), member 13 4903 ABC transporter 2. transport integral to membrane ATP binding|ATPase activity breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 270 ATGAAGGAGGTTCGGGAAGGC 0.498000 25 47 0 0 1 0 0 TRPM8 79054 broad.mit.edu 37 2 234869681 234869681 + Missense_Mutation SNP G G A TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr2:234869681G>A ENST00000324695.4 + 12 1664 c.1624G>A c.(1624-1626)Ggc>Agc p.G542S TRPM8_ENST00000433712.2_Missense_Mutation_p.G230S NM_024080.4 NP_076985.4 Q7Z2W7 TRPM8_HUMAN transient receptor potential cation channel, subfamily M, member 8 542 integral to membrane breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2) 66 Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224) Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108) Menthol(DB00825) AGACAGAAATGGCCGGGACGA 0.488000 5 14 0 0 1 0 0 DACH1 1602 broad.mit.edu 37 13 72204727 72204727 + Missense_Mutation SNP C C T TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr13:72204727C>T ENST00000305425.4 - 3 1515 c.1093G>A c.(1093-1095)Gga>Aga p.G365R DACH1_ENST00000313174.7_Missense_Mutation_p.G365R|DACH1_ENST00000359684.2_Missense_Mutation_p.G365R|DACH1_ENST00000354591.4_Intron NM_080759.4 NP_542937.2 Q9UI36 DACH1_HUMAN dachshund homolog 1 (Drosophila) 363 Interaction with SIX6 and HDAC3 (By similarity). multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus DNA binding|nucleotide binding|protein binding NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 41 Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198) GBM - Glioblastoma multiforme(99;0.00032) GAGTCTGCTCCATGTTGGTTA 0.398000 64 117 0 0 1 0 0 PLEKHG4 25894 broad.mit.edu 37 16 67315971 67315971 + Silent SNP C C T TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr16:67315971C>T ENST00000360461.5 + 7 3600 c.1065C>T c.(1063-1065)atC>atT p.I355I PLEKHG4_ENST00000450733.1_Silent_p.I274I|PLEKHG4_ENST00000427155.2_Silent_p.I355I|PLEKHG4_ENST00000379344.3_Silent_p.I355I NM_001129727.1|NM_015432.3 NP_001123199.1|NP_056247.1 Q58EX7 PKHG4_HUMAN pleckstrin homology domain containing, family G (with RhoGef domain) member 4 355 regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 37 OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)|Kidney(780;0.119) AGGGGGCCATCGAAAGTGTGA 0.622000 15 39 0 0 1 0 0 PTCHD2 57540 broad.mit.edu 37 1 11594532 11594532 + Missense_Mutation SNP G G A TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr1:11594532G>A ENST00000294484.6 + 18 3608 c.3470G>A c.(3469-3471)gGc>gAc p.G1157D PTCHD2_ENST00000389575.3_Missense_Mutation_p.G1157D|PTCHD2_ENST00000304391.6_Silent_p.G43G NM_020780.1 NP_065831.1 Q9P2K9 PTHD2_HUMAN patched domain containing 2 1157 cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway endoplasmic reticulum|integral to membrane|nuclear membrane hedgehog receptor activity NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 76 Ovarian(185;0.249) Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549) TTGCCCGAGGGCTCAGTCCTG 0.627000 20 33 0 0 1 0 0 CCDC19 25790 broad.mit.edu 37 1 159858154 159858154 + Silent SNP C C T TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr1:159858154C>T ENST00000426543.2 - 4 605 c.150G>A c.(148-150)aaG>aaA p.K50K CCDC19_ENST00000476696.1_5'UTR|CCDC19_ENST00000368099.4_Silent_p.K135K Q9UL16 CCD19_HUMAN coiled-coil domain containing 19 135 mitochondrion|soluble fraction endometrium(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2) 26 all_hematologic(112;0.0597) BRCA - Breast invasive adenocarcinoma(70;0.151) TGGTGGCTTCCTTCTCCTTCT 0.517000 9 30 0 0 1 0 0 VCAM1 7412 broad.mit.edu 37 1 101197031 101197031 + Silent SNP C C T TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr1:101197031C>T ENST00000294728.2 + 6 1583 c.1482C>T c.(1480-1482)ttC>ttT p.F494F VCAM1_ENST00000370115.1_Intron|VCAM1_ENST00000370119.4_Silent_p.F432F|VCAM1_ENST00000347652.2_Silent_p.F402F NM_001078.3 NP_001069.1 P19320 VCAM1_HUMAN vascular cell adhesion molecule 1 494 Ig-like C2-type 5. heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome cell adhesion molecule binding|integrin binding central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011) Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196) Carvedilol(DB01136) ACATGGAATTCGAACCCAAAC 0.378000 19 24 0 0 1 0 0 AMER3 205147 broad.mit.edu 37 2 131520647 131520647 + Silent SNP G G A TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr2:131520647G>A ENST00000423981.1 + 2 1112 c.1002G>A c.(1000-1002)ggG>ggA p.G334G AMER3_ENST00000321420.4_Silent_p.G334G NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2 NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2 APC membrane recruitment protein 3 GCCCCCAGGGGACAGACAGGG 0.652000 21 31 0 0 1 0 0 DRD5 1816 broad.mit.edu 37 4 9784956 9784956 + Missense_Mutation SNP G G A TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr4:9784956G>A ENST00000304374.2 + 1 1699 c.1303G>A c.(1303-1305)Gat>Aat p.D435N NM_000798.4 NP_000789.1 P21918 DRD5_HUMAN dopamine receptor D5 435 activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic integral to plasma membrane NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1) 57 Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624) GGGTCCTTTCGATCGCATGTT 0.557000 12 25 0 0 1 0 0 ACER1 125981 broad.mit.edu 37 19 6312292 6312292 + Missense_Mutation SNP G G A TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr19:6312292G>A ENST00000301452.4 - 3 295 c.218C>T c.(217-219)tCc>tTc p.S73F NM_133492.2 NP_597999.1 Q8TDN7 ACER1_HUMAN alkaline ceramidase 1 73 endoplasmic reticulum membrane|integral to membrane ceramidase activity NS(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|pancreas(1) 15 GAAATACATGGAGAACAGGCC 0.627000 26 64 0 0 1 0 0 PCDHA7 56141 broad.mit.edu 37 5 140214286 140214286 + Silent SNP G G A TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr5:140214286G>A ENST00000525929.1 + 1 318 c.318G>A c.(316-318)ctG>ctA p.L106L PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA7_ENST00000378125.3_Silent_p.L106L|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron NM_018910.2 NP_061733.1 NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 63 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCATCCACCTGGAGGTGATCG 0.552000 36 194 0 0 1 0 0 TNFRSF13B 23495 broad.mit.edu 37 17 16852106 16852106 + Missense_Mutation SNP C C T TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr17:16852106C>T ENST00000437538.2 - 2 261 c.253G>A c.(253-255)Gac>Aac p.D85N TNFRSF13B_ENST00000581616.2_5'UTR|TNFRSF13B_ENST00000261652.2_Missense_Mutation_p.D131N|TNFRSF13B_ENST00000579315.1_Missense_Mutation_p.D131N|TNFRSF13B_ENST00000583789.1_Missense_Mutation_p.D85N O14836 TR13B_HUMAN tumor necrosis factor receptor superfamily, member 13B 131 cell surface receptor linked signaling pathway integral to plasma membrane protein binding|receptor activity endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(7)|skin(1) 16 CCCGAGTTGTCTGAATTGTTT 0.517000 IgA Deficiency, Selective 51 84 0 0 1 0 0 MYO3B 140469 broad.mit.edu 37 2 171376042 171376042 + Silent SNP G G A TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr2:171376042G>A ENST00000334231.6 + 30 3594 c.3594G>A c.(3592-3594)gaG>gaA p.E1198E MYO3B_ENST00000408978.4_Silent_p.E1189E|MYO3B_ENST00000602629.1_3'UTR|MYO3B_ENST00000409044.3_Silent_p.E1162E Q8WXR4 MYO3B_HUMAN myosin IIIB 1189 response to stimulus|visual perception cytoplasm|myosin complex actin binding|ATP binding|motor activity|protein serine/threonine kinase activity breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 59 CTGTCACAGAGAAAAATGGGT 0.433000 11 14 0 0 1 0 0 HNRNPL 3191 broad.mit.edu 37 19 39330912 39330912 + Missense_Mutation SNP G G A TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr19:39330912G>A ENST00000221419.5 - 8 1423 c.1057C>T c.(1057-1059)Cgt>Tgt p.R353C HNRNPL_ENST00000600873.1_Missense_Mutation_p.R220C NM_001533.2 NP_001524.2 P14866 HNRPL_HUMAN heterogeneous nuclear ribonucleoprotein L 353 Pro-rich. nuclear mRNA splicing, via spliceosome cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm nucleotide binding|protein binding|RNA binding|transcription regulatory region DNA binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1) 30 all_cancers(60;6.83e-06)|Ovarian(47;0.0454) Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575) GGGCCCCGACGGTGACCCCCC 0.682000 4 3 0 0 1 0 0 CTSO 1519 broad.mit.edu 37 4 156850828 156850828 + Missense_Mutation SNP A A T TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr4:156850828A>T ENST00000433477.3 - 6 773 c.704T>A c.(703-705)cTt>cAt p.L235H NM_001334.2 NP_001325.1 P43234 CATO_HUMAN cathepsin O 235 proteolysis lysosome cysteine-type endopeptidase activity breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(3)|prostate(1) 16 all_hematologic(180;0.24) Renal(120;0.0458) KIRC - Kidney renal clear cell carcinoma(143;0.05)|Kidney(143;0.0627)|COAD - Colon adenocarcinoma(41;0.148) AAAGGTAAGAAGTGCTTTTGC 0.363000 14 25 0 0 1 0 0 COL5A2 1290 broad.mit.edu 37 2 189933585 189933585 + Missense_Mutation SNP C C T TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr2:189933585C>T ENST00000374866.3 - 19 1458 c.1184G>A c.(1183-1185)cGa>cAa p.R395Q NM_000393.3 NP_000384.2 P05997 CO5A2_HUMAN collagen, type V, alpha 2 395 axon guidance|collagen fibril organization|eye morphogenesis|skin development collagen type V extracellular matrix structural constituent NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3) 95 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127) TTCAGGGCCTCGCGCCCCTGT 0.488000 14 22 0 0 1 0 0 SLC25A28 81894 broad.mit.edu 37 10 101370957 101370957 + Silent SNP G G A TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr10:101370957G>A ENST00000370495.4 - 4 772 c.744C>T c.(742-744)ttC>ttT p.F248F SLC25A28_ENST00000496035.1_5'UTR NM_031212.3 NP_112489.3 Q96A46 MFRN2_HUMAN solute carrier family 25 (mitochondrial iron transporter), member 28 248 ion transport|iron ion homeostasis integral to membrane|mitochondrial inner membrane endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|stomach(1) 11 Colorectal(252;0.234) Epithelial(162;2.57e-10)|all cancers(201;2.01e-08) GCTCCTGCAGGAATTCATAGG 0.567000 10 22 0 0 1 0 0 ACTRT2 140625 broad.mit.edu 37 1 2939031 2939031 + Missense_Mutation SNP G G A TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr1:2939031G>A ENST00000378404.2 + 1 986 c.781G>A c.(781-783)Gag>Aag p.E261K NM_080431.4 NP_536356.3 Q8TDY3 ACTT2_HUMAN actin-related protein T2 261 cytoplasm|cytoskeleton p.E261K(1) breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 26 all_cancers(77;0.00205)|all_epithelial(69;0.0011)|Ovarian(185;0.0634)|Lung NSC(156;0.0893)|all_lung(157;0.0909) all_epithelial(116;2.66e-20)|all_lung(118;1.56e-08)|Lung NSC(185;2.54e-06)|Breast(487;0.00156)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123) Epithelial(90;7.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.15e-22)|GBM - Glioblastoma multiforme(42;1.1e-12)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000329)|BRCA - Breast invasive adenocarcinoma(365;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.125) CCAGGCGCCCGAGGCCCTGTT 0.642000 30 46 0 0 1 0 0 RBM27 54439 broad.mit.edu 37 5 145638024 145638024 + Missense_Mutation SNP T T G TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr5:145638024T>G ENST00000265271.5 + 11 1773 c.1607T>G c.(1606-1608)gTg>gGg p.V536G RBM27_ENST00000506502.1_Missense_Mutation_p.V481G NM_018989.1 NP_061862.1 Q9P2N5 RBM27_HUMAN RNA binding motif protein 27 536 mRNA processing cytoplasm|nuclear speck nucleotide binding|RNA binding|zinc ion binding NS(2)|breast(1)|central_nervous_system(3)|endometrium(4)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1) 39 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) GCTAACATTGTGATCCAGACT 0.338000 17 28 0 0 1 0 0 ASIC5 51802 broad.mit.edu 37 4 156757976 156757976 + Missense_Mutation SNP C C T TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr4:156757976C>T ENST00000537611.2 - 8 1146 c.1100G>A c.(1099-1101)gGa>gAa p.G367E NM_017419.2 NP_059115.1 Q9NY37 ACCN5_HUMAN acid-sensing (proton-gated) ion channel family member 5 367 integral to membrane|plasma membrane GTTATGTGTTCCTACTGTACA 0.353000 15 25 0 0 1 0 0 DNAH3 55567 broad.mit.edu 37 16 21078705 21078705 + Silent SNP C C T TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr16:21078705C>T ENST00000261383.3 - 24 3416 c.3417G>A c.(3415-3417)caG>caA p.Q1139Q DNAH3_ENST00000415178.1_Silent_p.Q1139Q NM_017539.1 NP_060009.1 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 1139 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6) 202 GBM - Glioblastoma multiforme(48;0.207) CCATCCGTGGCTGGTCGGCTG 0.458000 20 34 0 0 1 0 0 KSR2 283455 broad.mit.edu 37 12 117923448 117923448 + Silent SNP G G A TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr12:117923448G>A ENST00000425217.1 - 15 2235 c.2181C>T c.(2179-2181)atC>atT p.I727I KSR2_ENST00000302438.5_3'UTR|KSR2_ENST00000339824.5_Silent_p.I756I NM_173598.4 NP_775869.3 Q6VAB6 KSR2_HUMAN kinase suppressor of ras 2 756 Protein kinase. intracellular signal transduction cytoplasm|membrane ATP binding|metal ion binding|protein serine/threonine kinase activity NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) CATCCAAAACGATTTTGGCAT 0.453000 16 26 0 0 1 0 0 SLC13A1 6561 broad.mit.edu 37 7 122765670 122765670 + Missense_Mutation SNP A A G TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr7:122765670A>G ENST00000194130.2 - 11 1232 c.1193T>C c.(1192-1194)cTt>cCt p.L398P SLC13A1_ENST00000539873.1_3'UTR NM_022444.3 NP_071889.2 Q9BZW2 S13A1_HUMAN solute carrier family 13 (sodium/sulfate symporter), member 1 398 integral to membrane|plasma membrane sodium:sulfate symporter activity p.L398P(1) breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 45 Succinic acid(DB00139) AGCTGGGATAAGAAAGAATAG 0.338000 25 71 0 0 1 0 0 PAK7 57144 broad.mit.edu 37 20 9523275 9523275 + Silent SNP C C T TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr20:9523275C>T ENST00000378429.3 - 10 2508 c.1962G>A c.(1960-1962)agG>agA p.R654R PAK7_ENST00000353224.5_Silent_p.R654R|PAK7_ENST00000378423.1_Silent_p.R654R NM_020341.3 NP_065074.1 Q9P286 PAK7_HUMAN p21 protein (Cdc42/Rac)-activated kinase 7 654 Protein kinase. ATP binding|protein binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3) 81 COAD - Colon adenocarcinoma(9;0.194) TGTCCCGGATCCTCCGCATCG 0.502000 30 55 0 0 1 0 0 ENTHD1 150350 broad.mit.edu 37 22 40283651 40283651 + Missense_Mutation SNP A A C TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr22:40283651A>C ENST00000325157.6 - 2 352 c.102T>G c.(100-102)agT>agG p.S34R NM_152512.3 NP_689725.2 Q8IYW4 ENTD1_HUMAN ENTH domain containing 1 34 ENTH. breast(2)|endometrium(1)|kidney(6)|large_intestine(6)|lung(11)|ovary(3)|skin(3) 32 Melanoma(58;0.0749) ACATCAGAGAACTAGAGGGAC 0.408000 34 57 0 0 1 0 0 KRTAP4-9 100132386 broad.mit.edu 37 17 39261837 39261837 + Missense_Mutation SNP G G A TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr17:39261837G>A ENST00000391415.1 + 1 254 c.197G>A c.(196-198)cGc>cAc p.R66H NM_001146041.1 NP_001139513.1 Q9BYQ8 KRA49_HUMAN keratin associated protein 4-9 66 29 X 5 AA repeats of C-C-[RQVHIEK]- [SPTR]-[VSTQCRNP]. Missing (in allele KAP.9-v1). keratin filament central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3) 14 ACTTGTTCCCGCCCCAGCTGC 0.657000 14 18 0 0 1 0 0 COCH 1690 broad.mit.edu 37 14 31344159 31344159 + Nonsense_Mutation SNP G G A TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr14:31344159G>A ENST00000396618.3 + 2 71 c.15G>A c.(13-15)tgG>tgA p.W5* COCH_ENST00000460581.2_5'UTR|COCH_ENST00000216361.4_Nonsense_Mutation_p.W5*|COCH_ENST00000475087.1_Nonsense_Mutation_p.W5* NM_004086.2 NP_004077.1 O43405 COCH_HUMAN cochlin 5 sensory perception of sound proteinaceous extracellular matrix central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|pancreas(1)|skin(3) 19 Hepatocellular(127;0.0877)|Breast(36;0.148) LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805) GBM - Glioblastoma multiforme(265;0.00645) CCGCAGCCTGGATCCCGGCTC 0.701000 21 29 0 0 1 0 0 DIO3 1735 broad.mit.edu 37 14 102028736 102028736 + Silent SNP C C T TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr14:102028736C>T ENST00000359323.3 + 1 1049 c.825C>T c.(823-825)ccC>ccT p.P275P DIO3_ENST00000510508.4_Silent_p.P301P NM_001362.3 NP_001353.4 P55073 IOD3_HUMAN deiodinase, iodothyronine, type III 275 cellular nitrogen compound metabolic process|hormone biosynthetic process endosome membrane|integral to membrane|plasma membrane thyroxine 5'-deiodinase activity|thyroxine 5-deiodinase activity central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(3)|skin(1) 22 all_neural(303;0.185) GCGCTCGGCCCCGGAGGGTGT 0.602000 12 32 0 0 1 0 0 SHE 126669 broad.mit.edu 37 1 154474155 154474155 + Silent SNP C C T TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr1:154474155C>T ENST00000304760.2 - 1 434 c.348G>A c.(346-348)gcG>gcA p.A116A NM_001010846.2 NP_001010846.1 Q5VZ18 SHE_HUMAN Src homology 2 domain containing E 116 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) GGCCCTTGCCCGCGGCGGCCT 0.701000 8 34 0 0 1 0 0 MYH13 8735 broad.mit.edu 37 17 10253931 10253931 + Silent SNP C C T TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr17:10253931C>T ENST00000418404.3 - 11 1249 c.1086G>A c.(1084-1086)ggG>ggA p.G362G MYH13_ENST00000252172.4_Silent_p.G362G|MYH13_ENST00000570743.1_Silent_p.G362G Q9UKX3 MYH13_HUMAN myosin, heavy chain 13, skeletal muscle 362 Myosin head-like. muscle contraction muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2) 108 ACTTCATGTTCCCATAATGCA 0.517000 33 71 0 0 1 0 0 ZNF569 148266 broad.mit.edu 37 19 37904217 37904217 + Missense_Mutation SNP A A G TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr19:37904217A>G ENST00000316950.6 - 6 1900 c.1343T>C c.(1342-1344)aTa>aCa p.I448T ZNF569_ENST00000392149.2_Missense_Mutation_p.I448T|ZNF569_ENST00000392150.2_Missense_Mutation_p.I289T NM_152484.2 NP_689697.2 Q5MCW4 ZN569_HUMAN zinc finger protein 569 448 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(5)|endometrium(4)|large_intestine(16)|lung(11)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 40 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) TGACATCTGTATAAAAGCTTT 0.368000 9 18 0 0 1 0 0 FBXO24 26261 broad.mit.edu 37 7 100193316 100193316 + Missense_Mutation SNP G G A TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr7:100193316G>A ENST00000241071.6 + 8 1515 c.1193G>A c.(1192-1194)gGg>gAg p.G398E FBXO24_ENST00000468962.1_Missense_Mutation_p.G386E|PCOLCE-AS1_ENST00000544873.1_RNA|FBXO24_ENST00000427939.2_Missense_Mutation_p.G436E|PCOLCE-AS1_ENST00000442166.2_RNA|FBXO24_ENST00000360609.2_3'UTR NM_033506.2 NP_277041.1 O75426 FBX24_HUMAN F-box protein 24 398 ubiquitin ligase complex ubiquitin-protein ligase activity NS(2)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(3)|skin(4)|urinary_tract(2) 28 Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439) ATGGACCGAGGGGAACCCACA 0.517000 10 23 0 0 1 0 0 CDC40 51362 broad.mit.edu 37 6 110536529 110536529 + Missense_Mutation SNP T T C TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr6:110536529T>C ENST00000368932.1 + 10 1084 c.983T>C c.(982-984)tTt>tCt p.F328S CDC40_ENST00000368930.1_Missense_Mutation_p.F328S|CDC40_ENST00000368933.1_Missense_Mutation_p.F328S|CDC40_ENST00000307731.1_Missense_Mutation_p.F328S O60508 PRP17_HUMAN cell division cycle 40 328 mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription catalytic step 2 spliceosome|nucleoplasm breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1) 18 all_cancers(87;6.23e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00159)|Colorectal(196;0.0488) Epithelial(106;0.0221)|all cancers(137;0.0314)|OV - Ovarian serous cystadenocarcinoma(136;0.034) CTGAGAACATTTATTGGTAAT 0.338000 14 11 0 0 1 0 0 PPIL2 23759 broad.mit.edu 37 22 22039122 22039122 + Missense_Mutation SNP T T A TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr22:22039122T>A ENST00000406385.1 + 10 694 c.634T>A c.(634-636)Tac>Aac p.Y212N PPIL2_ENST00000456792.2_Missense_Mutation_p.Y191N|PPIL2_ENST00000335025.7_Missense_Mutation_p.Y212N|PPIL2_ENST00000492445.2_Missense_Mutation_p.Y212N|PPIL2_ENST00000412327.1_Missense_Mutation_p.Y212N|PPIL2_ENST00000398831.3_Missense_Mutation_p.Y212N Q13356 PPIL2_HUMAN peptidylprolyl isomerase (cyclophilin)-like 2 212 blood coagulation|leukocyte migration|protein folding|protein polyubiquitination Golgi lumen|nucleus|ubiquitin ligase complex peptidyl-prolyl cis-trans isomerase activity|ubiquitin-ubiquitin ligase activity endometrium(4)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|skin(2) 17 Colorectal(54;0.105) GCAGGAGCTCTACAAGGAGTT 0.522000 17 17 0 0 1 0 0 B4GALNT2 124872 broad.mit.edu 37 17 47210392 47210392 + Missense_Mutation SNP G G A TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr17:47210392G>A ENST00000300404.2 + 1 64 c.5G>A c.(4-6)gGg>gAg p.G2E B4GALNT2_ENST00000504681.1_Intron|B4GALNT2_ENST00000393354.2_Intron NM_153446.2 NP_703147.2 Q8NHY0 B4GN2_HUMAN beta-1,4-N-acetyl-galactosaminyl transferase 2 2 lipid glycosylation|negative regulation of cell-cell adhesion|UDP-N-acetylgalactosamine metabolic process integral to Golgi membrane acetylgalactosaminyltransferase activity endometrium(3)|large_intestine(6)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 24 all cancers(6;0.000316) CCAGGAATGGGGAGCGCTGGC 0.647000 10 12 0 0 1 0 0 OR4C6 219432 broad.mit.edu 37 11 55433564 55433564 + Missense_Mutation SNP G G A rs148830288 byFrequency TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr11:55433564G>A ENST00000314259.3 + 1 951 c.922G>A c.(922-924)Ggg>Agg p.G308R NM_001004704.1 NP_001004704.1 Q8NH72 OR4C6_HUMAN olfactory receptor, family 4, subfamily C, member 6 308 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 71 GGCTTTGGCTGGGAAATAACT 0.418000 13 22 0 0 1 0 0 CDH24 64403 broad.mit.edu 37 14 23523425 23523425 + Silent SNP C C T TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr14:23523425C>T ENST00000397359.3 - 6 1156 c.897G>A c.(895-897)ctG>ctA p.L299L CDH24_ENST00000487137.2_Silent_p.L299L|CDH24_ENST00000554034.1_Silent_p.L299L|CDH24_ENST00000267383.5_Silent_p.L299L NM_022478.3 NP_071923.2 Q86UP0 CAD24_HUMAN cadherin 24, type 2 299 Cadherin 3. adherens junction organization|cell junction assembly|cell-cell adhesion|homophilic cell adhesion cell-cell junction|integral to membrane alpha-catenin binding|beta-catenin binding|calcium ion binding|delta-catenin binding breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 26 all_cancers(95;3.3e-05) GBM - Glioblastoma multiforme(265;0.00654) CCTCCCCATCCAGGATGCTGT 0.632000 70 72 0 0 1 0 0 OR52L1 338751 broad.mit.edu 37 11 6007904 6007904 + Missense_Mutation SNP G G A TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr11:6007904G>A ENST00000332249.4 - 1 311 c.257C>T c.(256-258)gCc>gTc p.A86V NM_001005173.2 NP_001005173.2 Q8NGH7 O52L1_HUMAN olfactory receptor, family 52, subfamily L, member 1 86 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|pancreas(1)|skin(3)|soft_tissue(1) 30 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;1.98e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135) CAGGTCGATGGCAGCTAGCAT 0.527000 8 12 0 0 1 0 0 FAM135B 51059 broad.mit.edu 37 8 139164562 139164562 + Missense_Mutation SNP C C T TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr8:139164562C>T ENST00000395297.1 - 13 2326 c.2156G>A c.(2155-2157)cGa>cAa p.R719Q NM_015912.3 NP_056996.2 Q49AJ0 F135B_HUMAN family with sequence similarity 135, member B 719 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) GGCATGTCTTCGAACAAACGG 0.567000 HNSCC(54;0.14) 22 20 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179641147 179641147 + Missense_Mutation SNP C C T TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr2:179641147C>T ENST00000589042.1 - 28 5668 c.5444G>A c.(5443-5445)aGa>aAa p.R1815K TTN_ENST00000342175.6_Missense_Mutation_p.R1769K|TTN_ENST00000359218.5_Missense_Mutation_p.R1769K|TTN_ENST00000591111.1_Missense_Mutation_p.R1815K|TTN_ENST00000360870.5_Missense_Mutation_p.R1815K|TTN_ENST00000342992.6_Missense_Mutation_p.R1815K|TTN_ENST00000460472.2_Missense_Mutation_p.R1769K NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 1547 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) TTCTTCAATTCTCTGTAAGCC 0.408000 36 59 0 0 1 0 0 ALG9 79796 broad.mit.edu 37 11 111680403 111680403 + Missense_Mutation SNP A A G TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr11:111680403A>G ENST00000398006.2 - 14 2071 c.1163T>C c.(1162-1164)aTc>aCc p.I388T ALG9_ENST00000531154.1_Missense_Mutation_p.I395T|ALG9_ENST00000527228.1_5'UTR|ALG9_ENST00000524880.1_3'UTR NM_001077690.1|NM_001077691.1|NM_001077692.1 NP_001071158.1|NP_001071159.1|NP_001071160.1 Q9H6U8 ALG9_HUMAN ALG9, alpha-1,2-mannosyltransferase 559 dolichol-linked oligosaccharide biosynthetic process|GPI anchor biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine integral to membrane|intrinsic to endoplasmic reticulum membrane alpha-1,2-mannosyltransferase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 16 all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425) Epithelial(105;6.81e-07)|BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|all cancers(92;1.3e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0587) GGCCAAGCTGATCCATTCTTC 0.388000 22 23 0 0 1 0 0 IMPG1 3617 broad.mit.edu 37 6 76744460 76744460 + Missense_Mutation SNP G G A TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr6:76744460G>A ENST00000369963.3 - 2 301 c.112C>T c.(112-114)Cgc>Tgc p.R38C IMPG1_ENST00000369950.3_Missense_Mutation_p.R116C Q17R60 IMPG1_HUMAN interphotoreceptor matrix proteoglycan 1 116 visual perception proteinaceous extracellular matrix extracellular matrix structural constituent|receptor activity breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222) TCAGGGATGCGATCCAGAAAG 0.502000 31 19 0 0 1 0 0 SH3RF2 153769 broad.mit.edu 37 5 145393349 145393349 + Missense_Mutation SNP G G A TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr5:145393349G>A ENST00000511217.1 + 4 836 c.784G>A c.(784-786)Ggt>Agt p.G262S SH3RF2_ENST00000359120.4_Missense_Mutation_p.G262S Q8TEC5 SH3R2_HUMAN SH3 domain containing ring finger 2 262 ligase activity|protein phosphatase 1 binding|zinc ion binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1) 22 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) GAAGAACAAAGGTCGCCAGTC 0.517000 13 36 0 0 1 0 0 ELAVL2 1993 broad.mit.edu 37 9 23762156 23762156 + Missense_Mutation SNP G G A rs146832864 byFrequency TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr9:23762156G>A ENST00000397312.2 - 2 351 c.77C>T c.(76-78)tCg>tTg p.S26L ELAVL2_ENST00000380110.4_Missense_Mutation_p.S55L|ELAVL2_ENST00000223951.6_Missense_Mutation_p.S26L|ELAVL2_ENST00000544538.1_Missense_Mutation_p.S26L|ELAVL2_ENST00000380117.1_Missense_Mutation_p.S26L NM_004432.3 NP_004423.2 Q12926 ELAV2_HUMAN ELAV like neuron-specific RNA binding protein 2 26 regulation of transcription, DNA-dependent mRNA 3'-UTR binding|nucleotide binding|protein binding p.S26L(1) breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1) 39 GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19) AACTGGTGACGAACAGTTGTT 0.433000 50 41 0 0 1 0 0 STAT2 6773 broad.mit.edu 37 12 56749257 56749257 + Silent SNP G G A TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr12:56749257G>A ENST00000314128.4 - 5 464 c.441C>T c.(439-441)tcC>tcT p.S147S STAT2_ENST00000418572.2_Silent_p.S143S|STAT2_ENST00000557235.1_Silent_p.S143S P52630 STAT2_HUMAN signal transducer and activator of transcription 2, 113kDa 147 interspecies interaction between organisms|JAK-STAT cascade|regulation of transcription from RNA polymerase II promoter|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway cytosol|nucleoplasm|plasma membrane calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity NS(1)|endometrium(2)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|skin(3) 31 CCAGGATCCGGGATTCAATCT 0.493000 87 148 0 0 1 0 0 SCRN1 9805 broad.mit.edu 37 7 30008609 30008609 + Silent SNP C C T TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr7:30008609C>T ENST00000426154.1 - 2 251 c.75G>A c.(73-75)ggG>ggA p.G25G SCRN1_ENST00000494620.1_5'UTR|SCRN1_ENST00000242059.5_Silent_p.G25G|SCRN1_ENST00000409570.1_Silent_p.G25G|SCRN1_ENST00000409497.1_Silent_p.G25G NM_001145513.1 NP_001138985.1 Q12765 SCRN1_HUMAN secernin 1 25 exocytosis|proteolysis cytoplasm|nuclear membrane dipeptidase activity breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|ovary(2)|prostate(2)|skin(2) 25 CTGAATTTTTCCCAAATACCA 0.512000 10 20 0 0 1 0 0 IL26 55801 broad.mit.edu 37 12 68595655 68595655 + Nonsense_Mutation SNP C C T TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr12:68595655C>T ENST00000229134.4 - 5 550 c.486G>A c.(484-486)tgG>tgA p.W162* IFNG-AS1_ENST00000536914.1_RNA NM_018402.1 NP_060872.1 Q9NPH9 IL26_HUMAN interleukin 26 162 cell-cell signaling|negative regulation of epithelial cell proliferation|positive regulation of cytokine secretion|positive regulation of ERK1 and ERK2 cascade|positive regulation of JAK-STAT cascade|positive regulation of protein kinase B signaling cascade|positive regulation of stress-activated MAPK cascade|positive regulation of transcription from RNA polymerase II promoter cytosol|extracellular space|soluble fraction cytokine activity endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1) 12 Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018) GBM - Glioblastoma multiforme(7;0.000515) ATTTTTTAATCCAGGAAAGAA 0.289000 8 21 0 0 1 0 0 OR4K5 79317 broad.mit.edu 37 14 20389530 20389530 + Silent SNP C C T TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr14:20389530C>T ENST00000315915.4 + 1 790 c.765C>T c.(763-765)atC>atT p.I255I NM_001005483.1 NP_001005483.1 Q8NGD3 OR4K5_HUMAN olfactory receptor, family 4, subfamily K, member 5 255 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1) 47 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) GACCTTGCATCTTCATCTATG 0.403000 36 122 0 0 1 0 0 THSD7B 80731 broad.mit.edu 37 2 138414689 138414689 + Missense_Mutation SNP G G A TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr2:138414689G>A ENST00000409968.1 + 24 4512 c.4334G>A c.(4333-4335)cGa>cAa p.R1445Q THSD7B_ENST00000543459.1_Missense_Mutation_p.E280K|THSD7B_ENST00000272643.3_Missense_Mutation_p.R1448Q|THSD7B_ENST00000413152.2_Missense_Mutation_p.R1417Q thrombospondin, type I, domain containing 7B NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 134 BRCA - Breast invasive adenocarcinoma(221;0.19) AATAACGAACGAACTGTATGG 0.413000 9 17 0 0 1 0 0 SIPA1L1 26037 broad.mit.edu 37 14 72152321 72152321 + Missense_Mutation SNP C C T TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr14:72152321C>T ENST00000555818.1 + 10 3695 c.3347C>T c.(3346-3348)tCc>tTc p.S1116F SIPA1L1_ENST00000537413.1_Missense_Mutation_p.S591F|SIPA1L1_ENST00000358550.2_Missense_Mutation_p.S1116F|SIPA1L1_ENST00000381232.3_Missense_Mutation_p.S1116F NM_015556.1 NP_056371.1 O43166 SI1L1_HUMAN signal-induced proliferation-associated 1 like 1 1116 actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome GTPase activator activity NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1) 78 all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109) CGAAGCATCTCCAGTGACGGG 0.542000 11 20 0 0 1 0 0 CLU 1191 broad.mit.edu 37 8 27457480 27457480 + Silent SNP G G A TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr8:27457480G>A ENST00000316403.10 - 7 1386 c.981C>T c.(979-981)ctC>ctT p.L327L CLU_ENST00000405140.3_Silent_p.L327L|CLU_ENST00000560366.1_Silent_p.L379L|CLU_ENST00000546343.1_Silent_p.L338L|CLU_ENST00000523500.1_Silent_p.L327L P10909 CLUS_HUMAN clusterin 327 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 p.L379L(1) 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) GGGATTCGTCGAGCTCCCGCC 0.552000 14 13 0 0 1 0 0 CECR2 27443 broad.mit.edu 37 22 18022077 18022077 + Missense_Mutation SNP C C T TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr22:18022077C>T ENST00000262608.8 + 15 2182 c.2182C>T c.(2182-2184)Cct>Tct p.P728S CECR2_ENST00000400585.2_Missense_Mutation_p.P586S|CECR2_ENST00000400573.4_Missense_Mutation_p.P727S NM_031413.3 NP_113601.2 Q9BXF3 CECR2_HUMAN cat eye syndrome chromosome region, candidate 2 769 chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport protein binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1) 59 all_epithelial(15;0.139) Lung(27;0.146) ACCAGACTTTCCTGAAAGCTC 0.547000 6 29 0 0 1 0 0 DLGAP4 22839 broad.mit.edu 37 20 35155350 35155350 + Silent SNP G G A TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr20:35155350G>A ENST00000373913.3 + 13 3366 c.2886G>A c.(2884-2886)cgG>cgA p.R962R DLGAP4_ENST00000373907.2_Silent_p.R965R|DLGAP4_ENST00000340491.4_Silent_p.R426R|DLGAP4_ENST00000339266.5_Silent_p.R965R|DLGAP4_ENST00000475894.1_3'UTR|RP5-977B1.7_ENST00000439595.1_RNA|RP5-977B1.7_ENST00000425233.1_RNA|DLGAP4_ENST00000401952.2_Silent_p.R962R Q9Y2H0 DLGP4_HUMAN discs, large (Drosophila) homolog-associated protein 4 965 cell-cell signaling membrane protein binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 37 Breast(12;0.0192) Myeloproliferative disorder(115;0.00878) CGGCCAAGCGGGCAGCTTCTG 0.642000 16 20 0 0 1 0 0 HTR3A 3359 broad.mit.edu 37 11 113857657 113857657 + Silent SNP C C T TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr11:113857657C>T ENST00000504030.2 + 8 1472 c.1027C>T c.(1027-1029)Ctg>Ttg p.L343L HTR3A_ENST00000299961.5_Silent_p.L328L|HTR3A_ENST00000375498.2_Silent_p.L349L|HTR3A_ENST00000535865.1_Silent_p.L87L|HTR3A_ENST00000506841.2_Silent_p.L375L|HTR3A_ENST00000355556.2_Silent_p.L381L P46098 5HT3A_HUMAN 5-hydroxytryptamine (serotonin) receptor 3A, ionotropic 343 digestion|synaptic transmission cell junction|integral to plasma membrane|postsynaptic membrane serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 36 all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425) BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191) Alosetron(DB00969)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Dolasetron(DB00757)|Granisetron(DB00889)|Mirtazapine(DB00370)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Tubocurarine(DB01199) GCCTGCTTGGCTGCGTCACCT 0.592000 21 13 0 0 1 0 0 HMGA2 8091 broad.mit.edu 37 12 66232315 66232315 + Missense_Mutation SNP G G A TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr12:66232315G>A ENST00000541363.1 + 3 588 c.215G>A c.(214-216)gGa>gAa p.G72E HMGA2_ENST00000393577.3_Missense_Mutation_p.G72E|HMGA2_ENST00000354636.3_Missense_Mutation_p.G72E|HMGA2_ENST00000536545.1_Missense_Mutation_p.G72E|HMGA2_ENST00000403681.2_Missense_Mutation_p.G72E|HMGA2_ENST00000425208.2_Missense_Mutation_p.G72E|HMGA2_ENST00000393578.3_Missense_Mutation_p.G72E P52926 HMGA2_HUMAN high mobility group AT-hook 2 72 cell division|chromatin organization|mitosis|multicellular organismal development|regulation of growth|transcription, DNA-dependent chromatin AT DNA binding HMGA2/RAD51B(11)|HMGA2/CCNB1IP1(2)|HMGA2/WIF1_ENST00000286574(14)|HMGA2/ALDH2_ENST00000261733(2)|HMGA2/EBF1(2)|HMGA2/LHFP(2)|HMGA2/NFIB_ENST00000397581(8)|HMGA2/LPP(161)|HMGA2/FHIT_ENST00000476844(4)|HMGA2/COX6C(2) lung(2) 2 all_cancers(1;5.78e-46) GBM - Glioblastoma multiforme(1;0.00179)|LUSC - Lung squamous cell carcinoma(43;0.156) GBM - Glioblastoma multiforme(28;0.0386) GAAGCCACTGGAGAAAAACGG 0.333000 T """ LHFP, RAD51L1, LPP, COX6C, CMKOR1, NFIB, ALDH2, CCNB1IP1, EBF1, WIF1, FHIT""" """lipoma, leiomyoma, pleiomorphic salivary gland adenoma""" 3 9 0 0 1 0 0 MRPL24 79590 broad.mit.edu 37 1 156708369 156708369 + Missense_Mutation SNP G G A TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr1:156708369G>A ENST00000368211.4 - 2 266 c.128C>T c.(127-129)cCa>cTa p.P43L MRPL24_ENST00000361531.2_Missense_Mutation_p.P43L NM_024540.3|NM_145729.2 NP_078816.2|NP_663781.1 Q96A35 RM24_HUMAN mitochondrial ribosomal protein L24 43 Poly-Arg. translation mitochondrion|ribosome structural constituent of ribosome endometrium(1)|large_intestine(1)|lung(4) 6 all_hematologic(923;0.088)|Hepatocellular(266;0.158) CACAACCACTGGGCGCCGCCT 0.592000 62 46 0 0 1 0 0 USP44 84101 broad.mit.edu 37 12 95926868 95926868 + Missense_Mutation SNP A A G TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr12:95926868A>G ENST00000258499.3 - 2 1453 c.1165T>C c.(1165-1167)Ttc>Ctc p.F389L USP44_ENST00000552440.1_Missense_Mutation_p.F389L|USP44_ENST00000537435.2_Missense_Mutation_p.F389L|USP44_ENST00000393091.2_Missense_Mutation_p.F389L NM_001278393.1|NM_032147.2 NP_001265322.1|NP_115523.2 Q9H0E7 UBP44_HUMAN ubiquitin specific peptidase 44 389 anaphase|cell division|mitosis|negative regulation of mitotic anaphase-promoting complex activity|protein deubiquitination|regulation of spindle checkpoint|ubiquitin-dependent protein catabolic process nucleus protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(5)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 36 ATGACTTGGAACAAAGTATGC 0.448000 3 74 0 0 1 0 0 KCND3 3752 broad.mit.edu 37 1 112318760 112318760 + Missense_Mutation SNP G G C TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr1:112318760G>C ENST00000369697.1 - 6 1919 c.1850C>G c.(1849-1851)cCa>cGa p.P617R KCND3_ENST00000315987.2_Missense_Mutation_p.P636R|KCND3_ENST00000302127.4_Missense_Mutation_p.P617R Q9UK17 KCND3_HUMAN potassium voltage-gated channel, Shal-related subfamily, member 3 636 sarcolemma|voltage-gated potassium channel complex A-type (transient outward) potassium channel activity|metal ion binding NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 49 all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05) all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231) GTTGGGGCCTGGGCTGGCAGG 0.582000 24 50 0 0 1 0 0 SGSM1 129049 broad.mit.edu 37 22 25270422 25270422 + Silent SNP G G A TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr22:25270422G>A ENST00000400359.4 + 13 1339 c.1332G>A c.(1330-1332)gtG>gtA p.V444V SGSM1_ENST00000400358.4_Intron NM_001039948.2|NM_133454.2 NP_001035037.1|NP_597711.1 Q2NKQ1 SGSM1_HUMAN small G protein signaling modulator 1 444 Golgi apparatus Rab GTPase activator activity NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 41 CCGTCTCTGTGGGCCCTGCCT 0.617000 13 14 0 0 1 0 0 FIGN 55137 broad.mit.edu 37 2 164466470 164466470 + Silent SNP G G A TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr2:164466470G>A ENST00000333129.3 - 3 2186 c.1872C>T c.(1870-1872)atC>atT p.I624I FIGN_ENST00000409634.1_Intron NM_018086.2 NP_060556.2 Q5HY92 FIGN_HUMAN fidgetin 624 nuclear matrix ATP binding|nucleoside-triphosphatase activity breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1) 47 AAATTACTACGATTTGGTCCT 0.448000 24 62 0 0 1 0 0 APOBEC2 10930 broad.mit.edu 37 6 41021143 41021143 + Silent SNP G G A TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr6:41021143G>A ENST00000244669.2 + 1 101 c.57G>A c.(55-57)gaG>gaA p.E19E NM_006789.3 NP_006780.1 Q9Y235 ABEC2_HUMAN apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 2 19 DNA demethylation|mRNA processing cytidine deaminase activity|RNA binding|zinc ion binding endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|prostate(2)|skin(1) 10 Ovarian(28;0.0418)|Colorectal(47;0.196) AGAATGGGGAGGATCTGGAGA 0.592000 54 28 0 0 1 0 0 TAS2R3 50831 broad.mit.edu 37 7 141464126 141464126 + Silent SNP C C T TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr7:141464126C>T ENST00000247879.2 + 1 230 c.168C>T c.(166-168)atC>atT p.I56I SSBP1_ENST00000465582.1_Intron NM_016943.2 NP_058639.1 Q9NYW6 TA2R3_HUMAN taste receptor, type 2, member 3 56 sensory perception of taste taste receptor activity breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5) 14 Melanoma(164;0.0171) TCTTGAGGATCATTCTGCTGT 0.383000 61 178 0 0 1 0 0 MYH8 4626 broad.mit.edu 37 17 10304997 10304997 + Missense_Mutation SNP C C T TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr17:10304997C>T ENST00000403437.2 - 23 2888 c.2794G>A c.(2794-2796)Gag>Aag p.E932K CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA NM_002472.2 NP_002463.2 P13535 MYH8_HUMAN myosin, heavy chain 8, skeletal muscle, perinatal 932 muscle filament sliding cytosol|muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2) 134 ATCTCTTCCTCCTCCTCAGCT 0.443000 Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling 79 154 0 0 1 0 0 CAPZA3 93661 broad.mit.edu 37 12 18891674 18891674 + Missense_Mutation SNP C C T TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr12:18891674C>T ENST00000317658.3 + 1 630 c.472C>T c.(472-474)Cac>Tac p.H158Y NM_033328.2 NP_201585.1 Q96KX2 CAZA3_HUMAN capping protein (actin filament) muscle Z-line, alpha 3 158 actin cytoskeleton organization|actin filament capping F-actin capping protein complex actin binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1) 19 Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241) Hepatocellular(102;0.194) CATTGAAGATCACAACTATGA 0.368000 18 33 0 0 1 0 0 STEAP4 79689 broad.mit.edu 37 7 87912104 87912104 + Missense_Mutation SNP A A C TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr7:87912104A>C ENST00000380079.4 - 3 937 c.836T>G c.(835-837)tTc>tGc p.F279C AC003991.3_ENST00000447758.1_RNA|STEAP4_ENST00000301959.5_Intron|AC003991.3_ENST00000434733.1_RNA|STEAP4_ENST00000414498.1_Missense_Mutation_p.F279C|AC003991.3_ENST00000595121.1_RNA|AC003991.3_ENST00000600908.1_RNA NM_001205315.1|NM_024636.3 NP_001192244.1|NP_078912.2 Q687X5 STEA4_HUMAN STEAP family member 4 279 Ferric oxidoreductase. fat cell differentiation|ion transport|iron ion homeostasis Golgi membrane|integral to membrane|plasma membrane electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(3) 15 Esophageal squamous(14;0.00802) CCAGTCTGGGAATCGACGGTA 0.478000 11 26 0 0 1 0 0 PFKFB4 5210 broad.mit.edu 37 3 48572950 48572950 + Missense_Mutation SNP C C T TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr3:48572950C>T ENST00000232375.3 - 9 1094 c.982G>A c.(982-984)Gat>Aat p.D328N PFKFB4_ENST00000383734.2_Missense_Mutation_p.D328N|PFKFB4_ENST00000416568.1_Intron|PFKFB4_ENST00000545984.1_Intron|PFKFB4_ENST00000541519.1_Missense_Mutation_p.D294N|PFKFB4_ENST00000490115.1_5'UTR|PFKFB4_ENST00000536104.1_Missense_Mutation_p.D317N NM_004567.2 NP_004558.1 Q16877 F264_HUMAN 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 4 328 Fructose-2,6-bisphosphatase. fructose 2,6-bisphosphate metabolic process|glycolysis cytosol 6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|urinary_tract(1) 14 BRCA - Breast invasive adenocarcinoma(193;0.0003)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684) ACTACCGCATCGATCTCGTTG 0.547000 10 12 0 0 1 0 0 MICALCL 84953 broad.mit.edu 37 11 12313730 12313730 + Silent SNP G G A TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr11:12313730G>A ENST00000256186.2 + 2 306 c.15G>A c.(13-15)aaG>aaA p.K5K NM_032867.2 NP_116256.2 Q6ZW33 MICLK_HUMAN MICAL C-terminal like 5 cell differentiation|multicellular organismal development|spermatogenesis cytoplasm mitogen-activated protein kinase binding breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1) 30 Epithelial(150;0.00177) CACCTCCTAAGGACccttctc 0.423000 17 27 0 0 1 0 0 BAGE2 85319 broad.mit.edu 37 21 11098866 11098866 + RNA SNP C C T TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr21:11098866C>T ENST00000470054.1 - 0 59 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) gcctccaactcccccttctcc 0.617000 7 18 0 0 1 0 0 MAPKBP1 23005 broad.mit.edu 37 15 42116122 42116122 + Missense_Mutation SNP C C T TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr15:42116122C>T ENST00000457542.2 + 29 4362 c.4076C>T c.(4075-4077)cCc>cTc p.P1359L MAPKBP1_ENST00000456763.2_Missense_Mutation_p.P1365L|MAPKBP1_ENST00000260357.7_Missense_Mutation_p.P1198L|MAPKBP1_ENST00000221214.6_Missense_Mutation_p.P1242L|MAPKBP1_ENST00000514566.1_Intron NM_014994.2 NP_055809.2 O60336 MABP1_HUMAN mitogen-activated protein kinase binding protein 1 1365 breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262) OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225) CATCCTGGGCCCAGCAGCCCC 0.612000 34 57 0 0 1 0 0 BCR 613 broad.mit.edu 37 22 23523952 23523952 + Missense_Mutation SNP C C T TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr22:23523952C>T ENST00000305877.8 + 1 1556 c.805C>T c.(805-807)Ccc>Tcc p.P269S BCR_ENST00000359540.3_Missense_Mutation_p.P269S|BCR_ENST00000398512.5_Missense_Mutation_p.P269S NM_004327.3 NP_004318.3 P11274 BCR_HUMAN breakpoint cluster region 269 Binding to ABL SH2-domain.|Kinase. regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol ATP binding|GTPase activator activity|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity BCR/JAK2(6) central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1) 35 CGGTAGCAGGCCCCCTTGGCC 0.672000 T """ABL1, FGFR1, JAK2 """ """CML, ALL, AML""" 14 42 0 0 1 0 0 PKLR 5313 broad.mit.edu 37 1 155261669 155261669 + Missense_Mutation SNP G G A TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr1:155261669G>A ENST00000392414.3 - 10 1516 c.1403C>T c.(1402-1404)tCt>tTt p.S468F PKLR_ENST00000342741.4_Missense_Mutation_p.S499F NM_181871.3 NP_870986.1 P30613 KPYR_HUMAN pyruvate kinase, liver and RBC 499 A -> G (in PKRD).|A -> V (in PKRD; Hadano). endocrine pancreas development|energy reserve metabolic process|glycolysis|positive regulation of cellular metabolic process cytosol ATP binding|magnesium ion binding|potassium ion binding|pyruvate kinase activity p.S499F(1) NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 all_lung(78;6.99e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.145) Epithelial(20;3.18e-10)|all cancers(21;7.9e-10)|BRCA - Breast invasive adenocarcinoma(34;0.00116)|LUSC - Lung squamous cell carcinoma(543;0.127) Pyruvic acid(DB00119) AGCCTGGGCAGAGCGGGTGAC 0.602000 26 78 0 0 1 0 0 KCNH3 23416 broad.mit.edu 37 12 49949469 49949469 + Missense_Mutation SNP G G A TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr12:49949469G>A ENST00000257981.6 + 12 2463 c.2203G>A c.(2203-2205)Ggg>Agg p.G735R NM_012284.1 NP_036416.1 Q9ULD8 KCNH3_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 3 735 regulation of transcription, DNA-dependent integral to membrane two-component sensor activity|voltage-gated potassium channel activity NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 36 GGAGACAGATGGGGAGCAGGG 0.637000 3 15 0 0 1 0 0 ARHGAP12 94134 broad.mit.edu 37 10 32097592 32097592 + Missense_Mutation SNP A A C TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr10:32097592A>C ENST00000375250.5 - 17 2502 c.2261T>G c.(2260-2262)tTc>tGc p.F754C ARHGAP12_ENST00000396144.4_Missense_Mutation_p.F779C|ARHGAP12_ENST00000311380.4_Missense_Mutation_p.F732C|ARHGAP12_ENST00000492028.1_5'UTR|ARHGAP12_ENST00000375245.4_Missense_Mutation_p.F732C|ARHGAP12_ENST00000344936.2_Missense_Mutation_p.F784C NM_001270696.1 NP_001257625.1 Q8IWW6 RHG12_HUMAN Rho GTPase activating protein 12 784 Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity p.F784S(1) NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(11)|lung(10)|skin(1)|urinary_tract(2) 31 Prostate(175;0.0199) GAGATGTCGGAAAAGAATCTG 0.507000 46 60 0 0 1 0 0 TUBA3C 7278 broad.mit.edu 37 13 19751462 19751462 + Missense_Mutation SNP G G T TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr13:19751462G>T ENST00000400113.3 - 4 765 c.661C>A c.(661-663)Cgt>Agt p.R221S NM_006001.2 NP_005992.1 Q13748 TBA3C_HUMAN tubulin, alpha 3c 221 'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|protein binding|structural molecule activity NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1) 72 all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108) TACGTGGGACGCTCGATGTCC 0.562000 5 109 0.217242 0.218337 1 1 0 MC3R 4159 broad.mit.edu 37 20 54824280 54824280 + Silent SNP C C T TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr20:54824280C>T ENST00000243911.2 + 1 493 c.381C>T c.(379-381)tcC>tcT p.S127S NM_019888.3 NP_063941.3 P41968 MC3R_HUMAN melanocortin 3 receptor 164 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|positive regulation of cAMP biosynthetic process integral to plasma membrane melanocyte-stimulating hormone receptor activity|neuropeptide binding|protein binding breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(3)|skin(1) 26 Colorectal(105;0.202) TCTGCATCTCCCTGGTGGCCT 0.557000 18 38 0 0 1 0 0 SLC40A1 30061 broad.mit.edu 37 2 190439984 190439984 + Silent SNP G G A TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr2:190439984G>A ENST00000261024.2 - 3 600 c.174C>T c.(172-174)ctC>ctT p.L58L SLC40A1_ENST00000418714.1_5'UTR NM_014585.5 NP_055400.1 Q9NP59 S40A1_HUMAN solute carrier family 40 (iron-regulated transporter), member 1 58 anatomical structure morphogenesis|cellular iron ion homeostasis cytoplasm|integral to plasma membrane iron ion transmembrane transporter activity|protein binding endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 14 OV - Ovarian serous cystadenocarcinoma(117;0.000917)|Epithelial(96;0.014)|all cancers(119;0.0491) CTGTCAAAAGGAGGCTGTTTC 0.478000 36 70 0 0 1 0 0 ATP6V0D1 9114 broad.mit.edu 37 16 67478535 67478535 + Missense_Mutation SNP A A C TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr16:67478535A>C ENST00000290949.3 - 3 527 c.377T>G c.(376-378)gTg>gGg p.V126G ATP6V0D1_ENST00000540149.1_Missense_Mutation_p.V167G|ATP6V0D1_ENST00000602876.1_Missense_Mutation_p.V49G NM_004691.4 NP_004682.2 P61421 VA0D1_HUMAN ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d1 126 ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport endosome membrane|proton-transporting V-type ATPase, V0 domain|vacuolar proton-transporting V-type ATPase complex large_intestine(3)|lung(3)|urinary_tract(2) 8 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0439)|Epithelial(162;0.101) GCACTTGGGCACGAGCTCAGC 0.567000 8 22 0 0 1 0 0 ARAP3 64411 broad.mit.edu 37 5 141059844 141059844 + Silent SNP G G A TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr5:141059844G>A ENST00000239440.4 - 2 275 c.210C>T c.(208-210)tcC>tcT p.S70S ARAP3_ENST00000508305.1_5'UTR NM_022481.5 NP_071926.4 Q8WWN8 ARAP3_HUMAN ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3 70 cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1) 53 TGGGATCCAGGGAGCCCTCTT 0.642000 9 58 0 0 1 0 0 EP400 57634 broad.mit.edu 37 12 132562024 132562024 + Missense_Mutation SNP A A G TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr12:132562024A>G ENST00000333577.4 + 54 9395 c.9286A>G c.(9286-9288)Act>Gct p.T3096A EP400_ENST00000330386.6_Missense_Mutation_p.T2979A|EP400_ENST00000389562.2_Missense_Mutation_p.T3059A|EP400_ENST00000389561.2_Missense_Mutation_p.T3060A|EP400_ENST00000332482.4_Missense_Mutation_p.T3023A Q96L91 EP400_HUMAN E1A binding protein p400 3096 histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 161 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) AGTGACCGCGACTGCCCAGGT 0.657000 20 56 0 0 1 0 0 ADAMTS18 170692 broad.mit.edu 37 16 77387725 77387725 + Missense_Mutation SNP G G A rs147429761 TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr16:77387725G>A ENST00000282849.5 - 10 1937 c.1519C>T c.(1519-1521)Ccg>Tcg p.P507S NM_199355.2 NP_955387.1 Q8TE60 ATS18_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 18 507 Disintegrin. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 118 AGTTTGTCCGGATATTTATAC 0.433000 27 37 0 0 1 0 0 WISP1 8840 broad.mit.edu 37 8 134237731 134237731 + Missense_Mutation SNP C C T TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr8:134237731C>T ENST00000250160.6 + 4 815 c.709C>T c.(709-711)Cgg>Tgg p.R237W WISP1_ENST00000377863.2_Missense_Mutation_p.R65W|WISP1_ENST00000220856.6_Missense_Mutation_p.R150W|WISP1_ENST00000517423.1_Intron|WISP1_ENST00000519433.1_Intron NM_003882.3 NP_003873.1 O95388 WISP1_HUMAN WNT1 inducible signaling pathway protein 1 237 TSP type-1. cell adhesion|cell-cell signaling|regulation of cell growth|Wnt receptor signaling pathway extracellular region|soluble fraction insulin-like growth factor binding p.R237R(1) central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 21 all_epithelial(106;5.39e-23)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0107) GGTCTCCACTCGGATCTCCAA 0.597000 48 35 0 0 1 0 0 SYNE1 23345 broad.mit.edu 37 6 152708309 152708309 + Silent SNP C C T TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr6:152708309C>T ENST00000367255.5 - 54 8986 c.8385G>A c.(8383-8385)gcG>gcA p.A2795A SYNE1_ENST00000423061.1_Silent_p.A2802A|SYNE1_ENST00000341594.5_Silent_p.A2834A|SYNE1_ENST00000448038.1_Silent_p.A2802A|SYNE1_ENST00000265368.4_Silent_p.A2795A NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 2795 A -> V (in dbSNP:rs214950). cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) CCCTGGACTTCGCAATTAGAC 0.488000 HNSCC(10;0.0054) 25 20 0 0 1 0 0 EVPL 2125 broad.mit.edu 37 17 74006208 74006208 + Silent SNP G G A TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr17:74006208G>A ENST00000301607.3 - 22 3331 c.3078C>T c.(3076-3078)ccC>ccT p.P1026P EVPL_ENST00000586740.1_Silent_p.P1048P NM_001988.2 NP_001979.2 Q92817 EVPL_HUMAN envoplakin 1026 Central fibrous rod domain. keratinization|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural molecule activity breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4) 54 TGTCCAGGCCGGGGTCCCTCT 0.647000 28 79 0 0 1 0 0 GMIP 51291 broad.mit.edu 37 19 19744923 19744923 + Missense_Mutation SNP G G A TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr19:19744923G>A ENST00000203556.4 - 19 2298 c.2161C>T c.(2161-2163)Ccg>Tcg p.P721S GMIP_ENST00000587238.1_Missense_Mutation_p.P695S|GMIP_ENST00000586269.1_5'UTR|GMIP_ENST00000445806.2_Missense_Mutation_p.P692S NM_016573.2 NP_057657.2 Q9P107 GMIP_HUMAN GEM interacting protein 721 Rho-GAP. negative regulation of Rho GTPase activity|small GTPase mediated signal transduction cytosol metal ion binding|protein binding|Rho GTPase activator activity breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 24 CCGTCCGGCGGCCGCAGCAGT 0.612000 13 36 0 0 1 0 0 C2orf61 285051 broad.mit.edu 37 2 47378548 47378548 + Missense_Mutation SNP G G A TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr2:47378548G>A ENST00000294947.2 - 3 283 c.248C>T c.(247-249)cCa>cTa p.P83L C2orf61_ENST00000445927.2_Missense_Mutation_p.P83L|CALM2_ENST00000422269.1_5'UTR NM_173649.2 NP_775920.1 Q8N801 CB061_HUMAN chromosome 2 open reading frame 61 83 p.P83L(2)|p.0?(2) endometrium(1)|kidney(1)|lung(2) 4 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114) CACAAGAGGTGGCTTTTTCCT 0.398000 46 61 0 0 1 0 0 HYAL4 23553 broad.mit.edu 37 7 123517193 123517193 + Missense_Mutation SNP G G A rs117488620 byFrequency TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr7:123517193G>A ENST00000223026.4 + 5 2068 c.1430G>A c.(1429-1431)cGa>cAa p.R477Q HYAL4_ENST00000476325.1_Missense_Mutation_p.R477Q NM_012269.2 NP_036401.2 Q2M3T9 HYAL4_HUMAN hyaluronoglucosaminidase 4 477 fusion of sperm to egg plasma membrane|glycosaminoglycan catabolic process integral to membrane hyalurononglucosaminidase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 23 GCAAGTTATCGAAGCATTCAG 0.393000 14 60 0 0 1 0 0 KRT8 3856 broad.mit.edu 37 12 53292602 53292602 + Missense_Mutation SNP C C T TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr12:53292602C>T ENST00000552551.1 - 7 1495 c.1063G>A c.(1063-1065)Gag>Aag p.E355K KRT8_ENST00000546897.1_Missense_Mutation_p.E355K|KRT8_ENST00000293308.6_Missense_Mutation_p.E355K|KRT8_ENST00000552150.1_Missense_Mutation_p.E383K P05787 K2C8_HUMAN keratin 8 355 Coil 2.|Necessary for interaction with PNN.|Rod. cytoskeleton organization|interspecies interaction between organisms cytoplasm|keratin filament|nuclear matrix|nucleoplasm protein binding|structural molecule activity endometrium(5)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1) 13 BRCA - Breast invasive adenocarcinoma(357;0.108) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) GCCTCCAGCTCGGACAACTTG 0.642000 19 44 0 0 1 0 0 SH3PXD2A 9644 broad.mit.edu 37 10 105561083 105561083 + Missense_Mutation SNP G G A TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr10:105561083G>A ENST00000369774.4 - 2 386 c.110C>T c.(109-111)tCc>tTc p.S37F SH3PXD2A_ENST00000355946.2_Missense_Mutation_p.S37F Q5TCZ1 SPD2A_HUMAN SH3 and PX domains 2A 37 PX. cell communication|superoxide metabolic process cell junction|cell projection|cytoplasm|podosome phosphatidylinositol binding|protein binding breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1) 38 Colorectal(252;0.0815)|Breast(234;0.131) Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119) GATAGTCTGGGAGGTGGAGTC 0.527000 15 19 0 0 1 0 0 LOC442028 442028 broad.mit.edu 37 2 95558352 95558352 + RNA SNP C C T TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr2:95558352C>T ENST00000568768.1 - 0 476 CAACTACCACCAACCGGTGAA 0.433000 10 11 0 0 1 0 0 RAD9B 144715 broad.mit.edu 37 12 110968380 110968380 + Missense_Mutation SNP C C A TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr12:110968380C>A ENST00000409246.1 + 11 1285 c.960C>A c.(958-960)ttC>ttA p.F320L RAD9B_ENST00000409778.3_Intron|RAD9B_ENST00000409425.1_Missense_Mutation_p.F320L|RAD9B_ENST00000409300.1_Missense_Mutation_p.F392L|RAD9B_ENST00000392672.4_Missense_Mutation_p.F392L Q6WBX8 RAD9B_HUMAN RAD9 homolog B (S. pombe) 389 cell cycle checkpoint|DNA repair|DNA replication nucleoplasm protein binding endometrium(1)|large_intestine(2)|lung(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 7 AAGAACACTTCAACCACCCTT 0.423000 19 50 1.33834e-09 1.35877e-09 1 1 0 PDLIM5 10611 broad.mit.edu 37 4 95575610 95575610 + Splice_Site SNP G G A TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr4:95575610G>A ENST00000317968.4 + 10 1419 c.e10-1 PDLIM5_ENST00000514743.1_Splice_Site|PDLIM5_ENST00000437932.1_Splice_Site|PDLIM5_ENST00000380176.3_Splice_Site|PDLIM5_ENST00000542407.1_Splice_Site NM_001256428.1|NM_006457.4 NP_001243357.1|NP_006448.4 Q96HC4 PDLI5_HUMAN PDZ and LIM domain 5 regulation of dendritic spine morphogenesis|regulation of synaptogenesis actin cytoskeleton|cell junction|cytosol|postsynaptic density|postsynaptic membrane|synaptosome actin binding|actinin binding|protein kinase C binding|zinc ion binding central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 22 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;1.84e-09) TCTTCTGTCAGAGGACCATTC 0.403000 20 32 0 0 1 0 0 ATF7IP2 80063 broad.mit.edu 37 16 10567357 10567357 + Missense_Mutation SNP G G A TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr16:10567357G>A ENST00000396560.2 + 9 1675 c.1448G>A c.(1447-1449)gGa>gAa p.G483E ATF7IP2_ENST00000543967.1_Missense_Mutation_p.G27E|ATF7IP2_ENST00000396559.1_Missense_Mutation_p.G483E|ATF7IP2_ENST00000324570.5_Missense_Mutation_p.G483E|ATF7IP2_ENST00000356427.2_Missense_Mutation_p.G483E NM_024997.3 NP_079273.2 Q5U623 MCAF2_HUMAN activating transcription factor 7 interacting protein 2 483 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus large_intestine(3) 3 ATTACATCAGGAAATTCTAGC 0.269000 11 28 0 0 1 0 0 FRMD7 90167 broad.mit.edu 37 X 131212840 131212840 + Missense_Mutation SNP G G A TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chrX:131212840G>A ENST00000298542.4 - 12 1380 c.1205C>T c.(1204-1206)cCc>cTc p.P402L FRMD7_ENST00000464296.1_Missense_Mutation_p.P387L|FRMD7_ENST00000370879.1_Missense_Mutation_p.P282L NM_194277.2 NP_919253.1 Q6ZUT3 FRMD7_HUMAN FERM domain containing 7 402 regulation of neuron projection development cytoskeleton|growth cone|neuronal cell body binding breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 24 Acute lymphoblastic leukemia(192;0.000127) TAGCAATGTGGGATCCGCCTC 0.498000 49 41 0 0 1 0 0 DSE 29940 broad.mit.edu 37 6 116758425 116758425 + Nonsense_Mutation SNP C C T TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr6:116758425C>T ENST00000331677.3 + 7 3238 c.2794C>T c.(2794-2796)Caa>Taa p.Q932* DSE_ENST00000452085.3_Nonsense_Mutation_p.Q932*|DSE_ENST00000359564.2_Nonsense_Mutation_p.Q932*|DSE_ENST00000537543.1_Nonsense_Mutation_p.Q951* Q9UL01 DSE_HUMAN dermatan sulfate epimerase 932 dermatan sulfate biosynthetic process endoplasmic reticulum|Golgi apparatus|integral to membrane chondroitin-glucuronate 5-epimerase activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 35 all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234) Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262) CCTACATGGCCAAAGATGTCT 0.388000 17 16 0 0 1 0 0 KNSTRN 90417 broad.mit.edu 37 15 40675068 40675068 + Missense_Mutation SNP G G A TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr15:40675068G>A ENST00000416151.2 + 1 147 c.32G>A c.(31-33)aGa>aAa p.R11K KNSTRN_ENST00000249776.8_Missense_Mutation_p.R11K|KNSTRN_ENST00000448395.2_Missense_Mutation_p.R11K NM_001142761.1 NP_001136233.1 kinetochore-localized astrin/SPAG5 binding protein CCCCTGGACAGAGTTTTCCGT 0.592000 6 15 0 0 1 0 0 GYPA 2993 broad.mit.edu 37 4 145035897 145035897 + Silent SNP A A T TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr4:145035897A>T ENST00000360771.4 - 6 496 c.381T>A c.(379-381)ccT>ccA p.P127P GYPA_ENST00000324022.10_Silent_p.P94P|GYPA_ENST00000504786.1_Silent_p.P95P|GYPA_ENST00000512064.1_Silent_p.P114P|RP11-673E1.4_ENST00000506982.1_RNA|GYPA_ENST00000503627.1_Silent_p.P82P|GYPA_ENST00000512789.1_Silent_p.P62P|GYPB_ENST00000283126.7_Intron|GYPA_ENST00000535709.1_Silent_p.P101P NM_002099.6 NP_002090.4 P02724 GLPA_HUMAN glycophorin A (MNS blood group) 127 interspecies interaction between organisms membrane fraction receptor activity central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(4)|skin(1) 10 all_hematologic(180;0.15) GTGAGGGGAGAGGTTTTACAT 0.333000 11 21 0 0 1 0 0 PRRX1 5396 broad.mit.edu 37 1 170695524 170695524 + Missense_Mutation SNP G G A TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr1:170695524G>A ENST00000239461.6 + 3 894 c.581G>A c.(580-582)gGg>gAg p.G194E PRRX1_ENST00000367760.3_Missense_Mutation_p.G194E|PRRX1_ENST00000476867.2_3'UTR|PRRX1_ENST00000497230.2_Missense_Mutation_p.G194E NM_022716.2 NP_073207.1 P54821 PRRX1_HUMAN paired related homeobox 1 194 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity large_intestine(2)|ovary(1) 3 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) CTCTCCTGGGGGACAGCGTCT 0.567000 22 43 0 0 1 0 0 ERCC5 2073 broad.mit.edu 37 13 103518694 103518694 + Missense_Mutation SNP C C T TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr13:103518694C>T ENST00000355739.4 + 10 3705 c.2282C>T c.(2281-2283)gCt>gTt p.A761V ERCC5_ENST00000375954.1_5'UTR|BIVM-ERCC5_ENST00000602836.1_Silent_p.R1186R NM_000123.3 NP_000114.2 excision repair cross-complementing rodent repair deficiency, complementation group 5 breast(3)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 51 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211) GAACGGATCGCTGCTACTGTC 0.498000 """Mis, N, F""" """skin basal cell, skin squamous cell, melanoma""" Nucleotide excision repair (NER) Xeroderma Pigmentosum 17 30 0 0 1 0 0 MYEOV2 150678 broad.mit.edu 37 2 241075731 241075731 + Missense_Mutation SNP C C T TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr2:241075731C>T ENST00000307266.3 - 1 33 c.34G>A c.(34-36)Gaa>Aaa p.E12K NM_138336.1 NP_612209.1 Q8WXC6 MYOV2_HUMAN myeloma overexpressed 2 0 breast(1)|lung(5)|pancreas(1) 7 all_epithelial(40;1.56e-11)|Breast(86;0.0002)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238) Epithelial(121;3.81e-30)|all cancers(36;1.1e-27)|OV - Ovarian serous cystadenocarcinoma(60;2.74e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;8.54e-06)|Lung(119;0.00361)|LUSC - Lung squamous cell carcinoma(224;0.0153)|Colorectal(34;0.0202)|COAD - Colon adenocarcinoma(134;0.143) AGGCTCACTTCCGGCCTCAGA 0.741000 4 9 0 0 1 0 0 APBB2 323 broad.mit.edu 37 4 40895287 40895287 + Missense_Mutation SNP C C T TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr4:40895287C>T ENST00000295974.8 - 11 2022 c.1393G>A c.(1393-1395)Gga>Aga p.G465R APBB2_ENST00000506352.1_Missense_Mutation_p.G444R|APBB2_ENST00000513140.1_Missense_Mutation_p.G444R|APBB2_ENST00000508593.1_Missense_Mutation_p.G466R NM_001166050.1|NM_004307.1 NP_001159522.1|NP_004298.1 Q92870 APBB2_HUMAN amyloid beta (A4) precursor protein-binding, family B, member 2 465 PID 1. cell cycle arrest|intracellular signal transduction|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|regulation of transcription, DNA-dependent growth cone|lamellipodium|membrane|nucleus|synapse beta-amyloid binding|transcription factor binding central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|skin(2)|urinary_tract(1) 34 CTTACCTCTCCCCAAATCCCG 0.522000 29 46 0 0 1 0 0 APOL3 80833 broad.mit.edu 37 22 36537307 36537307 + Missense_Mutation SNP C C T TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr22:36537307C>T ENST00000424878.2 - 4 2698 c.550G>A c.(550-552)Gag>Aag p.E184K APOL3_ENST00000397293.2_Missense_Mutation_p.E313K|APOL3_ENST00000349314.2_Missense_Mutation_p.E384K|APOL3_ENST00000361710.2_Missense_Mutation_p.E184K|APOL3_ENST00000397287.2_Missense_Mutation_p.E184K O95236 APOL3_HUMAN apolipoprotein L, 3 384 inflammatory response|lipoprotein metabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade cytoplasm|extracellular region lipid binding|lipid transporter activity|signal transducer activity endometrium(2)|large_intestine(1)|lung(1)|stomach(1) 5 ATTAGATTCTCCTCCAGCTCC 0.552000 26 56 0 0 1 0 0 FCRL5 83416 broad.mit.edu 37 1 157514167 157514167 + Silent SNP C C T TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr1:157514167C>T ENST00000361835.3 - 5 886 c.729G>A c.(727-729)ccG>ccA p.P243P FCRL5_ENST00000368189.3_Silent_p.P243P|FCRL5_ENST00000368190.3_Silent_p.P243P|FCRL5_ENST00000356953.4_Silent_p.P243P|FCRL5_ENST00000368191.3_Silent_p.P158P NM_001195388.1|NM_031281.2 NP_001182317.1|NP_112571.2 Q96RD9 FCRL5_HUMAN Fc receptor-like 5 243 Ig-like C2-type 2. integral to membrane|plasma membrane receptor activity breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 85 all_hematologic(112;0.0378)|Hepatocellular(266;0.178) Prostate(1639;0.231) TCTGGAAATTCGGGGAGAGAC 0.527000 114 96 0 0 1 0 0 GPR98 84059 broad.mit.edu 37 5 89923417 89923417 + Silent SNP T T C TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr5:89923417T>C ENST00000405460.2 + 7 1158 c.1062T>C c.(1060-1062)atT>atC p.I354I NM_032119.3 NP_115495.3 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 354 Calx-beta 3. cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6) 269 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) TACCGGAGATTGCTGAATCGT 0.363000 47 65 0 0 1 0 0 PCNT 5116 broad.mit.edu 37 21 47831458 47831458 + Missense_Mutation SNP T T A TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr21:47831458T>A ENST00000359568.5 + 28 5578 c.5471T>A c.(5470-5472)cTc>cAc p.L1824H PCNT_ENST00000480896.1_3'UTR NM_006031.5 NP_006022.3 O95613 PCNT_HUMAN pericentrin 1824 cilium assembly|G2/M transition of mitotic cell cycle cytosol|microtubule calmodulin binding NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 104 Breast(49;0.112) CAGCAGCGCCTCCAGGGCGCA 0.692000 10 19 0 0 1 0 0 NLRP11 204801 broad.mit.edu 37 19 56307512 56307512 + Missense_Mutation SNP C C T TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr19:56307512C>T ENST00000443188.1 - 8 2986 c.2276G>A c.(2275-2277)aGg>aAg p.R759K NLRP11_ENST00000589093.1_Missense_Mutation_p.R759K|NLRP11_ENST00000360133.3_Missense_Mutation_p.R705K|NLRP11_ENST00000589824.2_Missense_Mutation_p.R705K|NLRP11_ENST00000592953.1_Missense_Mutation_p.R660K NM_145007.3 NP_659444.2 P59045 NAL11_HUMAN NLR family, pyrin domain containing 11 759 ATP binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3) 66 Colorectal(82;0.0002) GBM - Glioblastoma multiforme(193;0.0325) CCCGTCGCTCCTCAGCGGATT 0.493000 40 61 0 0 1 0 0 MGA 23269 broad.mit.edu 37 15 42003536 42003536 + Missense_Mutation SNP C C T TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr15:42003536C>T ENST00000219905.7 + 8 3254 c.3073C>T c.(3073-3075)Ctt>Ttt p.L1025F MGA_ENST00000570161.1_Missense_Mutation_p.L1025F|MGA_ENST00000566586.1_Missense_Mutation_p.L1025F|MGA_ENST00000389936.4_Missense_Mutation_p.L1025F|MGA_ENST00000545763.1_Missense_Mutation_p.L1025F NM_001164273.1 NP_001157745.1 Q8IWI9 MGAP_HUMAN MGA, MAX dimerization protein 1025 MLL1 complex DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238) OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235) AACAACTCTACTTACAGCTCA 0.448000 10 13 0 0 1 0 0 FAM135A 57579 broad.mit.edu 37 6 71235360 71235360 + Missense_Mutation SNP C C T TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr6:71235360C>T ENST00000418814.2 + 15 3187 c.2573C>T c.(2572-2574)tCt>tTt p.S858F FAM135A_ENST00000505868.1_Missense_Mutation_p.S858F|FAM135A_ENST00000457062.2_Missense_Mutation_p.S645F|FAM135A_ENST00000505769.1_Intron|FAM135A_ENST00000361499.3_Missense_Mutation_p.S662F|FAM135A_ENST00000370479.3_Missense_Mutation_p.S645F NM_001105531.2|NM_001162529.1 NP_001099001.1|NP_001156001.1 Q9P2D6 F135A_HUMAN family with sequence similarity 135, member A 858 breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 38 TCTAAGAAATCTGTTGTACCT 0.353000 7 23 0 0 1 0 0 PLEK 5341 broad.mit.edu 37 2 68607561 68607561 + Silent SNP C C T TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr2:68607561C>T ENST00000234313.7 + 2 323 c.144C>T c.(142-144)atC>atT p.I48I NM_002664.2 NP_002655.2 P08567 PLEK_HUMAN pleckstrin 48 PH 1. actin cytoskeleton reorganization|cortical actin cytoskeleton organization|hemopoietic progenitor cell differentiation|inhibition of phospholipase C activity involved in G-protein coupled receptor signaling pathway|integrin-mediated signaling pathway|negative regulation of calcium-mediated signaling|negative regulation of inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|platelet aggregation|positive regulation of actin filament bundle assembly|positive regulation of actin filament depolymerization|positive regulation of inositol-polyphosphate 5-phosphatase activity|positive regulation of integrin activation|positive regulation of platelet activation|protein kinase C signaling cascade|protein secretion by platelet|regulation of cell diameter|ruffle organization|thrombin receptor signaling pathway|vesicle docking involved in exocytosis cytosol|extracellular region|membrane fraction|ruffle membrane|soluble fraction phosphatidylinositol-3,4-bisphosphate binding|protein homodimerization activity|protein kinase C binding p.I48I(1) autonomic_ganglia(1)|endometrium(3)|large_intestine(6)|lung(12)|ovary(1)|skin(1) 24 Ovarian(717;0.0129) STAD - Stomach adenocarcinoma(1183;0.00159)|READ - Rectum adenocarcinoma(193;0.0419) AAGGAATGATCCCGCTGAAAG 0.468000 10 30 0 0 1 0 0 NPTX2 4885 broad.mit.edu 37 7 98254243 98254243 + Missense_Mutation SNP C C T TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr7:98254243C>T ENST00000265634.3 + 3 818 c.653C>T c.(652-654)gCc>gTc p.A218V NM_002523.2 NP_002514.1 P47972 NPTX2_HUMAN neuronal pentraxin II 218 synaptic transmission extracellular region metal ion binding|sugar binding breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 18 all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142) STAD - Stomach adenocarcinoma(171;0.215) GGCAATAGCGCCTTTAAGTCA 0.587000 69 147 0 0 1 0 0 SLFN5 162394 broad.mit.edu 37 17 33586576 33586576 + Silent SNP C C A TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr17:33586576C>A ENST00000299977.4 + 2 1015 c.867C>A c.(865-867)ctC>ctA p.L289L SLFN5_ENST00000592325.1_Silent_p.L289L|SLFN5_ENST00000542451.1_Silent_p.L289L NM_144975.3 NP_659412.3 Q08AF3 SLFN5_HUMAN schlafen family member 5 289 cell differentiation ATP binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(8)|liver(2)|lung(6)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(2) 34 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0191) AGGGGGCCCTCCGTGGATATG 0.473000 45 60 7.88023e-25 8.25253e-25 1 1 0 GPN2 54707 broad.mit.edu 37 1 27212479 27212479 + Silent SNP G G A TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr1:27212479G>A ENST00000374135.4 - 3 914 c.714C>T c.(712-714)atC>atT p.I238I GPN2_ENST00000374133.3_Silent_p.I59I NM_018066.3 NP_060536.3 Q9H9Y4 GPN2_HUMAN GPN-loop GTPase 2 238 GTP binding endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|urinary_tract(1) 9 TGTTGAGAGGGATAAAGGAGA 0.507000 19 36 0 0 1 0 0 RAB3IP 117177 broad.mit.edu 37 12 70149321 70149321 + Missense_Mutation SNP C C T TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr12:70149321C>T ENST00000550536.1 + 2 638 c.181C>T c.(181-183)Cct>Tct p.P61S RAB3IP_ENST00000247833.7_Missense_Mutation_p.P45S|RAB3IP_ENST00000483530.2_Missense_Mutation_p.P45S|RAB3IP_ENST00000378815.6_Missense_Mutation_p.P45S|RAB3IP_ENST00000362025.5_Missense_Mutation_p.P61S|RAB3IP_ENST00000325555.9_5'UTR NM_001278402.1|NM_175623.2 NP_001265331.1|NP_783322.1 Q96QF0 RAB3I_HUMAN RAB3A interacting protein 61 cilium assembly|Golgi to plasma membrane transport|protein localization to organelle|protein transport actin cortical patch|centrosome|cytosol|lamellipodium|microtubule basal body|nucleus guanyl-nucleotide exchange factor activity|protein binding NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 22 Esophageal squamous(21;0.187) Lung(24;0.000381)|OV - Ovarian serous cystadenocarcinoma(12;0.00168)|STAD - Stomach adenocarcinoma(21;0.00694) CCGGCCACACCCTTCAGCTTT 0.463000 33 47 0 0 1 0 0 OR2A14 135941 broad.mit.edu 37 7 143827123 143827123 + Silent SNP G G A TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr7:143827123G>A ENST00000408899.2 + 1 973 c.918G>A c.(916-918)aaG>aaA p.K306K NM_001001659.1 NP_001001659.1 Q96R47 O2A14_HUMAN olfactory receptor, family 2, subfamily A, member 14 306 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(4)|lung(17)|skin(1) 22 Melanoma(164;0.0783) CACTGAGGAAGGAGAGGCTGA 0.483000 55 129 0 0 1 0 0 CAMK2A 815 broad.mit.edu 37 5 149630366 149630366 + Missense_Mutation SNP G G A TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr5:149630366G>A ENST00000348628.6 - 10 1366 c.701C>T c.(700-702)tCg>tTg p.S234L CAMK2A_ENST00000398376.3_Missense_Mutation_p.S234L NM_015981.3|NM_171825.2 NP_057065.2|NP_741960.1 Q9UQM7 KCC2A_HUMAN calcium/calmodulin-dependent protein kinase II alpha 234 Protein kinase. interferon-gamma-mediated signaling pathway|positive regulation of NF-kappaB transcription factor activity|synaptic transmission cell junction|cytosol|endocytic vesicle membrane|nucleoplasm|presynaptic membrane ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity p.S234L(1) cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|skin(1)|stomach(1) 15 all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) CCATTCCGGCGATGGGAACTG 0.617000 25 43 0 0 1 0 0 FAM19A1 407738 broad.mit.edu 37 3 68587958 68587958 + Missense_Mutation SNP G G A TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr3:68587958G>A ENST00000478136.1 + 4 801 c.311G>A c.(310-312)gGa>gAa p.G104E FAM19A1_ENST00000496687.1_Missense_Mutation_p.G104E NM_213609.3 NP_998774.2 Q7Z5A9 F19A1_HUMAN family with sequence similarity 19 (chemokine (C-C motif)-like), member A1 104 endoplasmic reticulum|extracellular region central_nervous_system(1)|endometrium(1)|kidney(1)|lung(3)|ovary(1) 7 Lung NSC(201;0.0117) BRCA - Breast invasive adenocarcinoma(55;7.7e-05)|Epithelial(33;0.000937)|KIRC - Kidney renal clear cell carcinoma(39;0.0579)|Kidney(39;0.0743) TGCCTAGAAGGAGAAGAATGT 0.428000 19 24 0 0 1 0 0 APBB2 323 broad.mit.edu 37 4 41016023 41016023 + Missense_Mutation SNP T T C TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr4:41016023T>C ENST00000295974.8 - 6 1041 c.412A>G c.(412-414)Aaa>Gaa p.K138E APBB2_ENST00000506352.1_Missense_Mutation_p.K138E|APBB2_ENST00000513140.1_Missense_Mutation_p.K138E|APBB2_ENST00000508593.1_Missense_Mutation_p.K138E NM_001166050.1|NM_004307.1 NP_001159522.1|NP_004298.1 Q92870 APBB2_HUMAN amyloid beta (A4) precursor protein-binding, family B, member 2 138 cell cycle arrest|intracellular signal transduction|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|regulation of transcription, DNA-dependent growth cone|lamellipodium|membrane|nucleus|synapse beta-amyloid binding|transcription factor binding central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|skin(2)|urinary_tract(1) 34 TGGGGCTCTTTACCCTCTAAC 0.512000 23 44 0 0 1 0 0 INPP5F 22876 broad.mit.edu 37 10 121586700 121586700 + Missense_Mutation SNP C C T TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr10:121586700C>T ENST00000361976.2 + 20 2973 c.2807C>T c.(2806-2808)cCt>cTt p.P936L INPP5F_ENST00000369080.3_Missense_Mutation_p.P326L NM_014937.3 NP_055752.1 Q9Y2H2 SAC2_HUMAN inositol polyphosphate-5-phosphatase F 936 phosphoric ester hydrolase activity breast(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(9)|lung(5)|ovary(5)|pancreas(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 42 Lung NSC(174;0.109)|all_lung(145;0.142) all cancers(201;0.00205)|BRCA - Breast invasive adenocarcinoma(275;0.158) CAGGAGTCTCCTTTGAAGAAA 0.483000 21 35 0 0 1 0 0 RNF213 57674 broad.mit.edu 37 17 78325563 78325563 + Silent SNP C C T TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr17:78325563C>T ENST00000582970.1 + 32 10406 c.10263C>T c.(10261-10263)tcC>tcT p.S3421S RNF213_ENST00000336301.6_Silent_p.S1494S|RNF213_ENST00000508628.2_Silent_p.S3470S NM_001256071.1 NP_001243000.1 Q9HCF4 ALO17_HUMAN ring finger protein 213 0 NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 130 all_neural(118;0.0538) BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057) CAAAACTGTCCCGGGTGGGAA 0.343000 12 30 0 0 1 0 0 ASXL2 55252 broad.mit.edu 37 2 25994344 25994344 + Missense_Mutation SNP G G A TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr2:25994344G>A ENST00000435504.4 - 6 762 c.469C>T c.(469-471)Cca>Tca p.P157S ASXL2_ENST00000404843.1_5'UTR|ASXL2_ENST00000272341.4_5'UTR|ASXL2_ENST00000497092.1_5'UTR|ASXL2_ENST00000336112.4_Missense_Mutation_p.P129S Q76L83 ASXL2_HUMAN additional sex combs like 2 (Drosophila) 157 Ser-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|protein binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3) 33 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TTCTGTGATGGAGAAATGACT 0.433000 7 9 0 0 1 0 0 IL1RL1 9173 broad.mit.edu 37 2 102958733 102958733 + Missense_Mutation SNP G G A TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr2:102958733G>A ENST00000311734.2 + 6 1000 c.661G>A c.(661-663)Gaa>Aaa p.E221K IL1RL1_ENST00000404917.2_Missense_Mutation_p.E104K|IL1RL1_ENST00000409584.1_Missense_Mutation_p.E221K|IL1RL1_ENST00000233954.1_Missense_Mutation_p.E221K Q01638 ILRL1_HUMAN interleukin 1 receptor-like 1 221 Ig-like C2-type 3. innate immune response integral to membrane interleukin-1 receptor activity|receptor signaling protein activity NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(3)|urinary_tract(1) 16 TGCACAAAATGAAATAAAGGA 0.363000 9 33 0 0 1 0 0 RINL 126432 broad.mit.edu 37 19 39361342 39361342 + Missense_Mutation SNP G G A TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr19:39361342G>A ENST00000340740.3 - 8 937 c.550C>T c.(550-552)Ccg>Tcg p.P184S RINL_ENST00000602238.1_Intron|CTC-360G5.6_ENST00000593830.1_RNA|RINL_ENST00000598904.1_Missense_Mutation_p.P184S|RINL_ENST00000591812.1_Missense_Mutation_p.P298S NM_001195833.1|NM_198445.3 NP_001182762.1|NP_940847.1 Q6ZS11 RINL_HUMAN Ras and Rab interactor-like 184 GTPase activator activity endometrium(3)|kidney(4)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)|urinary_tract(2) 17 TCCGTGGCCGGGTCCCCAGAC 0.642000 14 17 0 0 1 0 0 ACAN 176 broad.mit.edu 37 15 89400320 89400320 + Missense_Mutation SNP G G A TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr15:89400320G>A ENST00000439576.2 + 12 4878 c.4504G>A c.(4504-4506)Gga>Aga p.G1502R ACAN_ENST00000352105.7_Missense_Mutation_p.G1502R|ACAN_ENST00000561243.1_Missense_Mutation_p.G1502R|ACAN_ENST00000559004.1_Missense_Mutation_p.G1502R NM_013227.3 NP_037359.3 E7EX88 E7EX88_HUMAN aggrecan 1502 cell adhesion hyaluronic acid binding|sugar binding NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 93 Lung NSC(78;0.0392)|all_lung(78;0.077) BRCA - Breast invasive adenocarcinoma(143;0.146) TTCTGCCTCTGGAATAGAGGA 0.498000 21 42 0 0 1 0 0 ITPR3 3710 broad.mit.edu 37 6 33630347 33630347 + Silent SNP C C T TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr6:33630347C>T ENST00000374316.5 + 9 1814 c.754C>T c.(754-756)Ctg>Ttg p.L252L ITPR3_ENST00000605930.1_Silent_p.L252L Q14573 ITPR3_HUMAN inositol 1,4,5-trisphosphate receptor, type 3 252 MIR 3. activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 85 GGAGAAGTTCCTGACGTGTGA 0.632000 8 18 0 0 1 0 0 CCDC51 79714 broad.mit.edu 37 3 48475220 48475220 + Missense_Mutation SNP A A G TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr3:48475220A>G ENST00000395694.2 - 3 459 c.374T>C c.(373-375)gTt>gCt p.V125A CCDC51_ENST00000447018.1_Missense_Mutation_p.V16A|CCDC51_ENST00000412398.2_Missense_Mutation_p.V16A|CCDC51_ENST00000442740.1_Missense_Mutation_p.V16A|CCDC51_ENST00000395696.1_Missense_Mutation_p.V125A NM_001256964.1 NP_001243893.1 Q96ER9 CCD51_HUMAN coiled-coil domain containing 51 125 integral to membrane endometrium(4)|kidney(4)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621) GGCCTGGTGAACTTCCAAGTC 0.577000 34 56 0 0 1 0 0 PSG5 5673 broad.mit.edu 37 19 43689216 43689216 + Missense_Mutation SNP C C T TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr19:43689216C>T ENST00000404580.1 - 2 236 c.148G>A c.(148-150)Gat>Aat p.D50N PSG5_ENST00000366175.3_Missense_Mutation_p.D50N|PSG5_ENST00000407568.1_Missense_Mutation_p.D50N|PSG5_ENST00000342951.6_Missense_Mutation_p.D50N|PSG5_ENST00000401992.1_5'UTR|PSG5_ENST00000407356.1_Missense_Mutation_p.D50N|PSG5_ENST00000599812.1_Missense_Mutation_p.D50N Q15238 PSG5_HUMAN pregnancy specific beta-1-glycoprotein 5 50 Ig-like V-type. female pregnancy extracellular region breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 Prostate(69;0.00899) AGAAGAACATCCTTCCCCTCG 0.453000 35 103 0 0 1 0 0 CHRM2 1129 broad.mit.edu 37 7 136700666 136700666 + Nonsense_Mutation SNP C C T TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr7:136700666C>T ENST00000445907.2 + 3 1582 c.1054C>T c.(1054-1056)Cag>Tag p.Q352* AC009264.1_ENST00000598184.1_RNA|CHRM2_ENST00000402486.3_Nonsense_Mutation_p.Q352*|CHRM2_ENST00000453373.1_Nonsense_Mutation_p.Q352*|AC009264.1_ENST00000597642.1_RNA|CHRM2_ENST00000320658.5_Nonsense_Mutation_p.Q352*|AC009264.1_ENST00000593789.1_RNA|AC009264.1_ENST00000592183.1_RNA|AC009264.1_ENST00000439694.1_RNA|AC009264.1_ENST00000586239.1_RNA|CHRM2_ENST00000397608.3_Nonsense_Mutation_p.Q352*|CHRM2_ENST00000401861.1_Nonsense_Mutation_p.Q352*|AC009264.1_ENST00000425981.2_RNA NM_001006627.1|NM_001006629.1 NP_001006628.1|NP_001006630.1 P08172 ACM2_HUMAN cholinergic receptor, muscarinic 2 352 activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus cell junction|integral to plasma membrane|postsynaptic membrane muscarinic acetylcholine receptor activity|protein binding central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 68 Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508) GTCTTCAGGTCAGAATGGAGA 0.463000 25 60 0 0 1 0 0 NRAS 4893 broad.mit.edu 37 1 115256529 115256529 + Missense_Mutation SNP T T C rs11554290 TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr1:115256529T>C ENST00000369535.4 - 3 435 c.182A>G c.(181-183)cAa>cGa p.Q61R NM_002524.4 NP_002515.1 P01111 RASN_HUMAN neuroblastoma RAS viral (v-ras) oncogene homolog 61 Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290). activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction Golgi membrane|plasma membrane GTP binding|GTPase activity p.Q61R(817)|p.Q61L(175)|p.Q61P(23)|p.Q61K(1) NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13) 3085 all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211) all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) GTACTCTTCTTGTCCAGCTGT 0.458000 Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID) 50 Mis """melanoma, MM, AML, thyroid""" Noonan syndrome TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6) 100 54 0 0 1 0 0 ZNF277 11179 broad.mit.edu 37 7 111927132 111927132 + Silent SNP A A G TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr7:111927132A>G ENST00000421043.1 + 2 316 c.296A>G c.(295-297)tAa>tGa p.*99* ZNF277_ENST00000450657.1_Intron|ZNF277_ENST00000361822.3_Intron Q9NRM2 ZN277_HUMAN zinc finger protein 277 0 nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(4)|endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1) 15 TTCCAAAGGTAAGTTCTGTTT 0.408000 18 37 0 0 1 0 0 NLRP1 22861 broad.mit.edu 37 17 5462668 5462668 + Missense_Mutation SNP G G A TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr17:5462668G>A ENST00000345221.3 - 4 1902 c.1348C>T c.(1348-1350)Ccc>Tcc p.P450S NLRP1_ENST00000262467.5_Missense_Mutation_p.P450S|NLRP1_ENST00000269280.4_Missense_Mutation_p.P450S|NLRP1_ENST00000571307.1_5'UTR|NLRP1_ENST00000572272.1_Missense_Mutation_p.P450S|NLRP1_ENST00000354411.3_Missense_Mutation_p.P450S|NLRP1_ENST00000577119.1_Missense_Mutation_p.P450S NM_014922.4|NM_033004.3|NM_033007.3 NP_055737.1|NP_127497.1|NP_127500.1 Q9C000 NALP1_HUMAN NLR family, pyrin domain containing 1 450 NACHT. defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide cytoplasm|NALP1 inflammasome complex|nucleus ATP binding|caspase activator activity|enzyme binding|protein domain specific binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 Colorectal(1115;3.48e-05) GATGCCTCGGGAAGTATAGTT 0.582000 6 16 0 0 1 0 0 TEP1 7011 broad.mit.edu 37 14 20849176 20849176 + Missense_Mutation SNP G G A TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr14:20849176G>A ENST00000262715.5 - 33 4716 c.4676C>T c.(4675-4677)tCg>tTg p.S1559L TEP1_ENST00000556935.1_Missense_Mutation_p.S1451L|TEP1_ENST00000545983.1_5'UTR NM_007110.4 NP_009041.2 Q99973 TEP1_HUMAN telomerase-associated protein 1 1559 telomere maintenance via recombination chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex ATP binding|RNA binding NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 96 all_cancers(95;0.00123) all_lung(585;0.235) Epithelial(56;7.42e-08)|all cancers(55;6.46e-07) GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233) AAGGAACTTCGAAAGAAGTCC 0.522000 15 20 0 0 1 0 0 ELF1 1997 broad.mit.edu 37 13 41515131 41515131 + Silent SNP A A T TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr13:41515131A>T ENST00000239882.3 - 8 1496 c.1182T>A c.(1180-1182)gcT>gcA p.A394A ELF1_ENST00000442101.1_Silent_p.A370A|ELF1_ENST00000498824.1_5'UTR NM_172373.3 NP_758961.1 P32519 ELF1_HUMAN E74-like factor 1 (ets domain transcription factor) 394 positive regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 37 Lung NSC(96;8.3e-05)|Prostate(109;0.0233)|Breast(139;0.0296)|Lung SC(185;0.0367) all cancers(112;1.87e-08)|Epithelial(112;8.45e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000202)|GBM - Glioblastoma multiforme(144;0.00266)|BRCA - Breast invasive adenocarcinoma(63;0.072) CCTCTGGGACAGCCTGTACTG 0.473000 19 30 0 0 1 0 0 MACC1 346389 broad.mit.edu 37 7 20199629 20199629 + Missense_Mutation SNP C C T TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr7:20199629C>T ENST00000400331.5 - 5 663 c.355G>A c.(355-357)Gaa>Aaa p.E119K MACC1_ENST00000332878.4_Missense_Mutation_p.E119K|MACC1_ENST00000589011.1_Missense_Mutation_p.E119K NM_182762.3 NP_877439.3 Q6ZN28 MACC1_HUMAN metastasis associated in colon cancer 1 119 positive regulation of cell division|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane growth factor activity endometrium(1)|kidney(1)|large_intestine(15)|lung(12)|ovary(2)|prostate(1)|skin(3)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(1) 39 ACATCAAGTTCATCACCGGAG 0.348000 6 11 0 0 1 0 0 DOCK3 1795 broad.mit.edu 37 3 51251604 51251604 + Missense_Mutation SNP G G A TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr3:51251604G>A ENST00000266037.9 + 14 1201 c.1178G>A c.(1177-1179)aGa>aAa p.R393K NM_004947.4 NP_004938.1 Q8IZD9 DOCK3_HUMAN dedicator of cytokinesis 3 393 cytoplasm GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1) 45 BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518) CAGATTCGGAGAGAAAATCCC 0.408000 10 9 0 0 1 0 0 OR6C3 254786 broad.mit.edu 37 12 55725661 55725661 + Silent SNP C C T TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr12:55725661C>T ENST00000379667.1 + 1 177 c.177C>T c.(175-177)ttC>ttT p.F59F NM_054104.1 NP_473445.1 Q9NZP0 OR6C3_HUMAN olfactory receptor, family 6, subfamily C, member 3 59 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)|skin(2) 11 TGTATTTCTTCCTCCGGAACT 0.383000 31 61 0 0 1 0 0 B3GALT2 8707 broad.mit.edu 37 1 193149577 193149577 + Silent SNP C C T TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr1:193149577C>T ENST00000367434.4 - 2 1871 c.1116G>A c.(1114-1116)tcG>tcA p.S372S CDC73_ENST00000367435.3_Intron NM_003783.3 NP_003774.1 O43825 B3GT2_HUMAN UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 2 372 protein glycosylation Golgi membrane|integral to membrane UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|ovary(2) 16 ATTTACAGCTCGAATAAGAGA 0.418000 27 35 0 0 1 0 0 MARCH10 162333 broad.mit.edu 37 17 60813988 60813988 + Missense_Mutation SNP C C G TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr17:60813988C>G ENST00000544856.2 - 7 1616 c.1238G>C c.(1237-1239)gGt>gCt p.G413A MARCH10_ENST00000456609.2_Missense_Mutation_p.G414A|MARCH10_ENST00000311269.5_Missense_Mutation_p.G414A|MARCH10_ENST00000583600.1_Missense_Mutation_p.G452A|RP11-156L14.1_ENST00000582564.1_RNA|RP11-156L14.1_ENST00000577270.1_RNA Q8NA82 MARHA_HUMAN membrane-associated ring finger (C3HC4) 10, E3 ubiquitin protein ligase 414 ligase activity|zinc ion binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15) 38 AGCATTGACACCAACCTCTTG 0.453000 20 47 0 0 1 0 0 DSCAM 1826 broad.mit.edu 37 21 41668062 41668062 + Missense_Mutation SNP C C T TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr21:41668062C>T ENST00000400454.1 - 10 2579 c.2102G>A c.(2101-2103)gGg>gAg p.G701E NM_001389.3 NP_001380.2 O60469 DSCAM_HUMAN Down syndrome cell adhesion molecule 701 Ig-like C2-type 8. cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction protein binding NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4) 142 all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103) GCCATAAATCCCGTCCTGGTC 0.438000 15 26 0 0 1 0 0 FLG 2312 broad.mit.edu 37 1 152278967 152278967 + Missense_Mutation SNP C C T TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr1:152278967C>T ENST00000368799.1 - 3 8430 c.8395G>A c.(8395-8397)Ggg>Agg p.G2799R FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 2799 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TGGTGGTACCCCTGCCTTCCT 0.612000 Ichthyosis 176 626 0 0 1 0 0 APOBEC2 10930 broad.mit.edu 37 6 41029549 41029549 + Missense_Mutation SNP G G T TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr6:41029549G>T ENST00000244669.2 + 2 658 c.614G>T c.(613-615)tGg>tTg p.W205L NM_006789.3 NP_006780.1 Q9Y235 ABEC2_HUMAN apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 2 205 DNA demethylation|mRNA processing cytidine deaminase activity|RNA binding|zinc ion binding endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|prostate(2)|skin(1) 10 Ovarian(28;0.0418)|Colorectal(47;0.196) TTTCAGCCCTGGGAGGACATT 0.517000 37 37 5.71845e-15 5.92639e-15 1 1 0 CHGB 1114 broad.mit.edu 37 20 5903688 5903688 + Missense_Mutation SNP C C T TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr20:5903688C>T ENST00000378961.4 + 4 1102 c.898C>T c.(898-900)Ccc>Tcc p.P300S NM_001819.2 NP_001810.2 P05060 SCG1_HUMAN chromogranin B (secretogranin 1) 300 extracellular region hormone activity breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1) 47 AGGGAGTCTTCCCTCTGAGGA 0.582000 6 14 0 0 1 0 0 PCDHA8 56140 broad.mit.edu 37 5 140222316 140222316 + Silent SNP G G A TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr5:140222316G>A ENST00000531613.1 + 1 1410 c.1410G>A c.(1408-1410)ccG>ccA p.P470P PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA8_ENST00000378123.3_Silent_p.P470P|PCDHA5_ENST00000529859.1_Intron NM_018911.2 NP_061734.1 NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6) 78 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ACAACCCGCCGGGCTGCCACA 0.672000 47 13 0 0 1 0 0 APOB 338 broad.mit.edu 37 2 21225556 21225556 + Silent SNP G G A TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr2:21225556G>A ENST00000233242.1 - 29 12865 c.12738C>T c.(12736-12738)ttC>ttT p.F4246F NM_000384.2 NP_000375.2 P04114 APOB_HUMAN apolipoprotein B 4246 cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6) 305 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) CTAGGTCTTGGAAATAGGAAA 0.378000 25 51 0 0 1 0 0 APBB2 323 broad.mit.edu 37 4 40895286 40895286 + Missense_Mutation SNP C C A TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr4:40895286C>A ENST00000295974.8 - 11 2023 c.1394G>T c.(1393-1395)gGa>gTa p.G465V APBB2_ENST00000506352.1_Missense_Mutation_p.G444V|APBB2_ENST00000513140.1_Missense_Mutation_p.G444V|APBB2_ENST00000508593.1_Missense_Mutation_p.G466V NM_001166050.1|NM_004307.1 NP_001159522.1|NP_004298.1 Q92870 APBB2_HUMAN amyloid beta (A4) precursor protein-binding, family B, member 2 465 PID 1. cell cycle arrest|intracellular signal transduction|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|regulation of transcription, DNA-dependent growth cone|lamellipodium|membrane|nucleus|synapse beta-amyloid binding|transcription factor binding central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|skin(2)|urinary_tract(1) 34 ACTTACCTCTCCCCAAATCCC 0.527000 29 46 1.75199e-13 1.80631e-13 1 1 0 OR5B17 219965 broad.mit.edu 37 11 58125889 58125889 + Silent SNP G G A TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr11:58125889G>A ENST00000357377.3 - 1 653 c.654C>T c.(652-654)ttC>ttT p.F218F NM_001005489.1 NP_001005489.1 Q8NGF7 OR5BH_HUMAN olfactory receptor, family 5, subfamily B, member 17 218 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 30 Esophageal squamous(5;0.0027) Breast(21;0.0778) TGATCAATATGAACAGATAGG 0.353000 14 38 0 0 1 0 0 OR10X1 128367 broad.mit.edu 37 1 158548823 158548823 + Silent SNP G G A TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr1:158548823G>A ENST00000368150.1 - 1 866 c.867C>T c.(865-867)gtC>gtT p.V289V NM_001004477.1 NP_001004477.1 Q8NGY0 O10X1_HUMAN olfactory receptor, family 10, subfamily X, member 1 (gene/pseudogene) 289 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1) 37 all_hematologic(112;0.0378) CAGTATAAGGGACTGCTATGA 0.443000 35 68 0 0 1 0 0 OR5AR1 219493 broad.mit.edu 37 11 56431806 56431806 + Silent SNP C C T TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr11:56431806C>T ENST00000302969.2 + 1 669 c.645C>T c.(643-645)ttC>ttT p.F215F NM_001004730.1 NP_001004730.1 Q8NGP9 O5AR1_HUMAN olfactory receptor, family 5, subfamily AR, member 1 (gene/pseudogene) 215 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(12)|prostate(1)|skin(3)|stomach(1) 26 TCATCATCTTCATCTCCTATA 0.488000 35 48 0 0 1 0 0 KCNH3 23416 broad.mit.edu 37 12 49949470 49949470 + Missense_Mutation SNP G G A TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr12:49949470G>A ENST00000257981.6 + 12 2464 c.2204G>A c.(2203-2205)gGg>gAg p.G735E NM_012284.1 NP_036416.1 Q9ULD8 KCNH3_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 3 735 regulation of transcription, DNA-dependent integral to membrane two-component sensor activity|voltage-gated potassium channel activity NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 36 GAGACAGATGGGGAGCAGGGC 0.637000 3 14 0 0 1 0 0 FANCM 57697 broad.mit.edu 37 14 45644571 45644571 + Missense_Mutation SNP C C T TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr14:45644571C>T ENST00000267430.5 + 14 2699 c.2614C>T c.(2614-2616)Cac>Tac p.H872Y FANCM_ENST00000542564.2_Missense_Mutation_p.H846Y NM_020937.2 NP_065988.1 Q8IYD8 FANCM_HUMAN Fanconi anemia, complementation group M 872 DNA repair Fanconi anaemia nuclear complex ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 85 AGAAAATAATCACGGTATTAT 0.259000 Involved in tolerance or repair of DNA crosslinks Fanconi Anemia 11 36 0 0 1 0 0 AGBL2 79841 broad.mit.edu 37 11 47684587 47684587 + Silent SNP C C T TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr11:47684587C>T ENST00000525123.1 - 18 2811 c.2526G>A c.(2524-2526)ggG>ggA p.G842G AGBL2_ENST00000357610.3_Silent_p.G844G|AGBL2_ENST00000298861.4_Silent_p.G842G NM_024783.3 NP_079059.2 Q5U5Z8 CBPC2_HUMAN ATP/GTP binding protein-like 2 842 proteolysis cytosol metallocarboxypeptidase activity|zinc ion binding NS(1)|endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1) 34 CCTGCATTCTCCCTTTATTCT 0.363000 42 63 0 0 1 0 0 PID1 55022 broad.mit.edu 37 2 229890383 229890383 + Missense_Mutation SNP C C T TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr2:229890383C>T ENST00000392054.3 - 4 1051 c.712G>A c.(712-714)Gag>Aag p.E238K PID1_ENST00000392055.3_Missense_Mutation_p.E207K|PID1_ENST00000354069.6_Missense_Mutation_p.E240K|PID1_ENST00000409462.1_Missense_Mutation_p.E158K|PID1_ENST00000482518.2_Intron NM_017933.4 NP_060403.3 Q7Z2X4 PCLI1_HUMAN phosphotyrosine interaction domain containing 1 240 PID. cytoplasm breast(4)|endometrium(3)|large_intestine(5)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 26 Renal(207;0.0112)|all_lung(227;0.0191)|Lung NSC(271;0.0851)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.171) Epithelial(121;3.08e-11)|all cancers(144;2.28e-08)|LUSC - Lung squamous cell carcinoma(224;0.0145)|Lung(261;0.0189) TGGGAAACCTCTTCGGAGGAG 0.527000 30 37 0 0 1 0 0 SLC28A2 9153 broad.mit.edu 37 15 45556889 45556889 + Nonsense_Mutation SNP C C T TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr15:45556889C>T ENST00000347644.3 + 7 690 c.625C>T c.(625-627)Caa>Taa p.Q209* CTD-2651B20.3_ENST00000560344.1_RNA|CTD-2651B20.3_ENST00000561404.1_RNA NM_004212.3 NP_004203.2 O43868 S28A2_HUMAN solute carrier family 28 (concentrative nucleoside transporter), member 2 209 nucleobase, nucleoside and nucleotide metabolic process integral to plasma membrane|membrane fraction nucleoside binding|nucleoside:sodium symporter activity|purine nucleoside transmembrane transporter activity NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(4)|skin(1) 26 all_cancers(109;8.53e-07)|all_epithelial(112;1.39e-05)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417) all cancers(107;3.77e-16)|GBM - Glioblastoma multiforme(94;2.71e-06) CCTAGGTCTTCAATTTGTCTT 0.428000 23 51 0 0 1 0 0 VIPR2 7434 broad.mit.edu 37 7 158828698 158828698 + Missense_Mutation SNP G G A TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr7:158828698G>A ENST00000262178.2 - 8 939 c.754C>T c.(754-756)Ccc>Tcc p.P252S VIPR2_ENST00000377633.3_Missense_Mutation_p.P236S|VIPR2_ENST00000402066.1_Missense_Mutation_p.P393S NM_003382.4 NP_003373.2 P41587 VIPR2_HUMAN vasoactive intestinal peptide receptor 2 252 cell-cell signaling integral to plasma membrane central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(1)|stomach(1) 22 Ovarian(565;0.152) all_cancers(7;1.13e-11)|all_epithelial(9;0.000545)|all_hematologic(28;0.00603) OV - Ovarian serous cystadenocarcinoma(82;0.00231) UCEC - Uterine corpus endometrioid carcinoma (81;0.2)|STAD - Stomach adenocarcinoma(7;0.18) CAGACGGTGGGGAGGCCTGCA 0.612000 8 23 0 0 1 0 0 CNTN4 152330 broad.mit.edu 37 3 2613203 2613203 + Missense_Mutation SNP G G A TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr3:2613203G>A ENST00000397461.1 + 3 400 c.16G>A c.(16-18)Gaa>Aaa p.E6K CNTN4_ENST00000418658.1_Missense_Mutation_p.E6K|CNTN4_ENST00000427331.1_Missense_Mutation_p.E6K NM_001206955.1 NP_001193884.1 Q8IWV2 CNTN4_HUMAN contactin 4 6 axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity anchored to membrane|axon|extracellular region|plasma membrane protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 61 Ovarian(110;0.156) Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01) GTTGCCATGGGAACTGCTGGT 0.368000 11 28 0 0 1 0 0 SECTM1 6398 broad.mit.edu 37 17 80280114 80280114 + Missense_Mutation SNP C C T TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr17:80280114C>T ENST00000269389.3 - 5 1020 c.670G>A c.(670-672)Gtg>Atg p.V224M SECTM1_ENST00000580437.1_3'UTR NM_003004.2 NP_002995.1 Q8WVN6 SCTM1_HUMAN secreted and transmembrane 1 224 immune response|mesoderm development|positive regulation of I-kappaB kinase/NF-kappaB cascade extracellular space|Golgi apparatus|integral to membrane|plasma membrane cytokine activity|signal transducer activity endometrium(1)|large_intestine(2)|lung(1) 4 Breast(20;0.000675)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.249) OV - Ovarian serous cystadenocarcinoma(97;0.00928)|BRCA - Breast invasive adenocarcinoma(99;0.0833) GGTTTGAACACCAGTGCCAGC 0.652000 18 36 0 0 1 0 0 NLRP8 126205 broad.mit.edu 37 19 56467279 56467279 + Missense_Mutation SNP G G A TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr19:56467279G>A ENST00000291971.3 + 3 1926 c.1855G>A c.(1855-1857)Gaa>Aaa p.E619K NLRP8_ENST00000590542.1_Missense_Mutation_p.E619K NM_176811.2 NP_789781.2 Q86W28 NALP8_HUMAN NLR family, pyrin domain containing 8 619 cytoplasm ATP binding breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2) 35 Colorectal(82;0.000147)|Ovarian(87;0.17) GBM - Glioblastoma multiforme(193;0.0695) AATCCGGGAGGAAGCCTTTGT 0.458000 12 40 0 0 1 0 0 FAM207A 85395 broad.mit.edu 37 21 46363728 46363728 + Missense_Mutation SNP C C T TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr21:46363728C>T ENST00000291634.6 + 2 307 c.259C>T c.(259-261)Cgg>Tgg p.R87W FAM207A_ENST00000397826.3_Intron NM_058190.2 NP_478070.1 Q9NSI2 CU070_HUMAN family with sequence similarity 207, member A 87 CTCGAGTGCACGGAGCGTCCC 0.612000 11 19 0 0 1 0 0 ALDH3A1 218 broad.mit.edu 37 17 19646583 19646583 + Missense_Mutation SNP T T C TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr17:19646583T>C ENST00000457500.2 - 2 685 c.356A>G c.(355-357)aAc>aGc p.N119S ALDH3A1_ENST00000225740.6_Missense_Mutation_p.N119S|ALDH3A1_ENST00000444455.1_Missense_Mutation_p.N119S|ALDH3A1_ENST00000494157.2_Missense_Mutation_p.N46S|ALDH3A1_ENST00000485231.1_5'UTR|ALDH3A1_ENST00000395555.3_Missense_Mutation_p.N119S NM_001135168.1 NP_001128640.1 P30838 AL3A1_HUMAN aldehyde dehydrogenase 3 family, member A1 119 cellular aldehyde metabolic process cytosol|endoplasmic reticulum alcohol dehydrogenase (NADP+) activity|aldehyde dehydrogenase|aldehyde dehydrogenase (NAD) activity breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|urinary_tract(1) 13 all_cancers(12;4.01e-05)|all_epithelial(12;0.00301)|Breast(13;0.186) Colorectal(15;0.0829) NADH(DB00157) GATGGTGAGGTTGAAGGGGTA 0.652000 15 21 0 0 1 0 0 ROR1 4919 broad.mit.edu 37 1 64515471 64515471 + Nonsense_Mutation SNP G G A TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr1:64515471G>A ENST00000371079.1 + 3 647 c.272G>A c.(271-273)tGg>tAg p.W91* ROR1_ENST00000482426.1_3'UTR|ROR1_ENST00000371080.1_Nonsense_Mutation_p.W91* NM_005012.3 NP_005003.2 Q01973 ROR1_HUMAN receptor tyrosine kinase-like orphan receptor 1 91 Ig-like C2-type. transmembrane receptor protein tyrosine kinase signaling pathway cytoplasm|integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding breast(7)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(10)|ovary(6)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1) 51 ACCATCCGCTGGTTCAAAAAT 0.552000 44 59 0 0 1 0 0 NRDE2 55051 broad.mit.edu 37 14 90770342 90770342 + Silent SNP A A G TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr14:90770342A>G ENST00000354366.3 - 5 1174 c.942T>C c.(940-942)ttT>ttC p.F314F NRDE2_ENST00000357904.3_Silent_p.F83F NM_017970.3 NP_060440.2 NRDE-2, necessary for RNA interference, domain containing CCCTCCTGTTAAACTCCTCCA 0.537000 38 69 0 0 1 0 0 BRCA2 675 broad.mit.edu 37 13 32906562 32906562 + Missense_Mutation SNP G G A TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr13:32906562G>A ENST00000544455.1 + 10 1174 c.947G>A c.(946-948)aGa>aAa p.R316K BRCA2_ENST00000380152.3_Missense_Mutation_p.R316K NM_000059.3 NP_000050.2 P51587 BRCA2_HUMAN breast cancer 2, early onset 316 cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 183 Lung SC(185;0.0262) all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704) TCTAAATGTAGAACAAAAAAT 0.299000 """D, Mis, N, F, S""" """breast, ovarian, pancreatic""" """breast, ovarian, pancreatic, leukemia (FANCB, FANCD1)""" Homologous recombination Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia TCGA Ovarian(8;0.087) 18 23 0 0 1 0 0 ZNF347 84671 broad.mit.edu 37 19 53644386 53644386 + Silent SNP T T A TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr19:53644386T>A ENST00000452676.2 - 5 2124 c.1698A>T c.(1696-1698)ggA>ggT p.G566G ZNF347_ENST00000334197.7_Silent_p.G565G|ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000601469.2_Silent_p.G566G NM_001172674.1 NP_001166145.1 Q96SE7 ZN347_HUMAN zinc finger protein 347 565 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1) 23 GBM - Glioblastoma multiforme(134;0.0179) AAGGTTTTTCTCCAGTATGGA 0.408000 4 120 0 0 1 0 0 ELF1 1997 broad.mit.edu 37 13 41515124 41515124 + Missense_Mutation SNP C C T TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr13:41515124C>T ENST00000239882.3 - 8 1503 c.1189G>A c.(1189-1191)Gag>Aag p.E397K ELF1_ENST00000442101.1_Missense_Mutation_p.E373K|ELF1_ENST00000498824.1_5'UTR NM_172373.3 NP_758961.1 P32519 ELF1_HUMAN E74-like factor 1 (ets domain transcription factor) 397 positive regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 37 Lung NSC(96;8.3e-05)|Prostate(109;0.0233)|Breast(139;0.0296)|Lung SC(185;0.0367) all cancers(112;1.87e-08)|Epithelial(112;8.45e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000202)|GBM - Glioblastoma multiforme(144;0.00266)|BRCA - Breast invasive adenocarcinoma(63;0.072) GCTTCTCCCTCTGGGACAGCC 0.468000 19 28 0 0 1 0 0 HNRNPL 3191 broad.mit.edu 37 19 39330913 39330913 + Silent SNP G G A TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr19:39330913G>A ENST00000221419.5 - 8 1422 c.1056C>T c.(1054-1056)caC>caT p.H352H HNRNPL_ENST00000600873.1_Silent_p.H219H NM_001533.2 NP_001524.2 P14866 HNRPL_HUMAN heterogeneous nuclear ribonucleoprotein L 352 Pro-rich. nuclear mRNA splicing, via spliceosome cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm nucleotide binding|protein binding|RNA binding|transcription regulatory region DNA binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1) 30 all_cancers(60;6.83e-06)|Ovarian(47;0.0454) Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575) GGCCCCGACGGTGACCCCCCA 0.687000 4 3 0 0 1 0 0 OTX2 5015 broad.mit.edu 37 14 57268478 57268478 + Missense_Mutation SNP G G A TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr14:57268478G>A ENST00000339475.5 - 5 1145 c.869C>T c.(868-870)tCc>tTc p.S290F OTX2_ENST00000408990.3_Missense_Mutation_p.S282F|OTX2_ENST00000555006.1_Missense_Mutation_p.S282F NM_001270523.1|NM_001270524.1|NM_001270525.1|NM_021728.3 NP_001257452.1|NP_001257453.1|NP_001257454.1|NP_068374.1 P32243 OTX2_HUMAN orthodenticle homeobox 2 282 axon guidance|forebrain development|midbrain development|positive regulation of embryonic development|positive regulation of gastrulation|primitive streak formation|protein complex assembly|regulation of fibroblast growth factor receptor signaling pathway|regulation of smoothened signaling pathway growth cone|nucleus|protein complex eukaryotic initiation factor 4E binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1) 19 Medulloblastoma(1;0.00184)|all_neural(1;0.00414) TTTCCACGAGGATGTCTGATC 0.413000 13 41 0 0 1 0 0 PRUNE2 158471 broad.mit.edu 37 9 79469075 79469075 + Missense_Mutation SNP G G A TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr9:79469075G>A ENST00000376718.3 - 2 209 c.86C>T c.(85-87)tCg>tTg p.S29L PRUNE2_ENST00000428286.1_5'UTR|PRUNE2_ENST00000376713.3_Missense_Mutation_p.S29L NM_015225.2 NP_056040.2 Q8WUY3 PRUN2_HUMAN prune homolog 2 (Drosophila) 29 apoptosis|G1 phase|induction of apoptosis cytoplasm metal ion binding|pyrophosphatase activity endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1) 16 CAAGTCACACGATTTAGGCCC 0.358000 6 21 0 0 1 0 0 CPAMD8 27151 broad.mit.edu 37 19 17056471 17056471 + Missense_Mutation SNP C C T TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr19:17056471C>T ENST00000443236.1 - 22 2853 c.2822G>A c.(2821-2823)gGa>gAa p.G941E NM_015692.2 NP_056507.2 Q8IZJ3 CPMD8_HUMAN C3 and PZP-like, alpha-2-macroglobulin domain containing 8 894 extracellular space|plasma membrane serine-type endopeptidase inhibitor activity breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5) 82 ATTTGTGTCTCCGTAAGCAAG 0.567000 25 56 0 0 1 0 0 TECPR2 9895 broad.mit.edu 37 14 102843271 102843271 + Silent SNP C C T TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr14:102843271C>T ENST00000359520.7 + 2 439 c.213C>T c.(211-213)aaC>aaT p.N71N TECPR2_ENST00000558678.1_Silent_p.N71N|TECPR2_ENST00000561228.1_3'UTR NM_014844.3 NP_055659.2 O15040 TCPR2_HUMAN tectonin beta-propeller repeat containing 2 71 protein binding breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(21)|ovary(2)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1) 50 GGAAGTACAACTTTGAGGTGA 0.522000 6 13 0 0 1 0 0 PTPRD 5789 broad.mit.edu 37 9 8524946 8524946 + Missense_Mutation SNP G G A TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr9:8524946G>A ENST00000381196.4 - 15 1201 c.658C>T c.(658-660)Cct>Tct p.P220S PTPRD_ENST00000540109.1_Missense_Mutation_p.P220S|PTPRD_ENST00000360074.4_Missense_Mutation_p.P211S|PTPRD_ENST00000537002.1_Missense_Mutation_p.P217S|PTPRD_ENST00000358503.5_Missense_Mutation_p.P211S|PTPRD_ENST00000486161.1_Missense_Mutation_p.P220S|PTPRD_ENST00000356435.5_Missense_Mutation_p.P220S|PTPRD_ENST00000355233.5_Missense_Mutation_p.P220S|PTPRD_ENST00000397606.3_Missense_Mutation_p.P214S|PTPRD_ENST00000397611.3_Missense_Mutation_p.P217S|PTPRD_ENST00000397617.3_Missense_Mutation_p.P214S NM_002839.3 NP_002830.1 P23468 PTPRD_HUMAN protein tyrosine phosphatase, receptor type, D 220 Ig-like C2-type 2. transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 168 all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824) all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119) aaattggcaggagcggaatag 0.512000 TSP Lung(15;0.13) 29 29 0 0 1 0 0 ACKR3 57007 broad.mit.edu 37 2 237489159 237489159 + Silent SNP C C T TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr2:237489159C>T ENST00000272928.3 + 2 361 c.51C>T c.(49-51)atC>atT p.I17I NM_020311.2 NP_064707.1 atypical chemokine receptor 3 TCTCGGACATCAGCTGGCCAT 0.512000 11 23 0 0 1 0 0 L1CAM 3897 broad.mit.edu 37 X 153128167 153128167 + Missense_Mutation SNP T T C TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chrX:153128167T>C ENST00000370060.1 - 29 3914 c.3725A>G c.(3724-3726)gAc>gGc p.D1242G L1CAM_ENST00000370057.3_Missense_Mutation_p.D1242G|L1CAM_ENST00000361699.4_Missense_Mutation_p.D1238G|L1CAM_ENST00000543994.1_Missense_Mutation_p.D1244G|L1CAM_ENST00000370055.1_Missense_Mutation_p.D1233G|L1CAM_ENST00000361981.3_Missense_Mutation_p.D1233G|L1CAM_ENST00000538883.1_Missense_Mutation_p.D1240G NM_001278116.1 NP_001265045.1 P32004 L1CAM_HUMAN L1 cell adhesion molecule 1242 axon guidance|blood coagulation|cell death|leukocyte migration integral to membrane NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 81 all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05) CCCTGAGCTGTCATTGCCCCC 0.607000 22 17 0 0 1 0 0 FAT3 120114 broad.mit.edu 37 11 92532199 92532199 + Missense_Mutation SNP T T C TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr11:92532199T>C ENST00000298047.6 + 9 6037 c.6020T>C c.(6019-6021)gTt>gCt p.V2007A FAT3_ENST00000409404.2_Missense_Mutation_p.V2007A|FAT3_ENST00000525166.1_Missense_Mutation_p.V1857A Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 2007 Cadherin 18. homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) GTCAATGCAGTTGGAAATCGC 0.423000 TCGA Ovarian(4;0.039) 74 51 0 0 1 0 0 NOMO1 23420 broad.mit.edu 37 16 14970248 14970248 + Missense_Mutation SNP G G T TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr16:14970248G>T ENST00000287667.7 + 21 2560 c.2389G>T c.(2389-2391)Ggg>Tgg p.G797W NM_014287.3 NP_055102.3 Q15155 NOMO1_HUMAN NODAL modulator 1 797 integral to membrane carbohydrate binding|carboxypeptidase activity|protein binding endometrium(6)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|skin(2) 30 CGAGATCCATGGGAAGGCAGG 0.527000 31 56 2.61193e-14 2.6999e-14 1 1 0 HCK 3055 broad.mit.edu 37 20 30671796 30671796 + Missense_Mutation SNP C C T TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr20:30671796C>T ENST00000534862.1 + 8 935 c.572C>T c.(571-573)tCc>tTc p.S191F HCK_ENST00000375862.2_Missense_Mutation_p.S210F|HCK_ENST00000375852.2_Missense_Mutation_p.S211F|HCK_ENST00000538448.1_Missense_Mutation_p.S190F|HCK_ENST00000520553.1_Missense_Mutation_p.S190F|HCK_ENST00000518730.1_Missense_Mutation_p.S189F NM_001172132.1 NP_001165603.1 P08631 HCK_HUMAN hemopoietic cell kinase 211 SH2. interspecies interaction between organisms|mesoderm development|regulation of defense response to virus by virus|viral reproduction caveola|cytosol ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(4) 36 UCEC - Uterine corpus endometrioid carcinoma (5;0.0241) TTCTACATATCCCCCCGAAGC 0.587000 14 36 0 0 1 0 0 DCC 1630 broad.mit.edu 37 18 50734090 50734090 + Silent SNP G G A TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr18:50734090G>A ENST00000442544.2 + 11 2380 c.1764G>A c.(1762-1764)ctG>ctA p.L588L DCC_ENST00000412726.1_Silent_p.L436L|DCC_ENST00000581580.1_Silent_p.L243L NM_005215.3 NP_005206.2 P43146 DCC_HUMAN deleted in colorectal carcinoma 588 Fibronectin type-III 2. apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development cytosol|integral to membrane NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6) 148 all_cancers(7;0.11)|all_epithelial(6;0.00126) Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942) TGGAAGGCCTGAAAAAATTCA 0.383000 5 56 0 0 1 0 0 MUC5B 727897 broad.mit.edu 37 11 1263619 1263619 + Missense_Mutation SNP G G A TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr11:1263619G>A ENST00000447027.1 + 31 5576 c.5518G>A c.(5518-5520)Gag>Aag p.E1840K MUC5B_ENST00000529681.1_Missense_Mutation_p.E1837K|RP11-532E4.2_ENST00000532061.2_RNA Q9HC84 MUC5B_HUMAN mucin 5B, oligomeric mucus/gel-forming 1837 7 X Cys-rich subdomain repeats.|Thr-rich. cell adhesion extracellular region extracellular matrix structural constituent|protein binding cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1) 137 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) GAACTACCCCGAGGTAAGCAT 0.587000 20 25 0 0 1 0 0 SUV39H2 79723 broad.mit.edu 37 10 14939068 14939068 + Missense_Mutation SNP G G A TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr10:14939068G>A ENST00000313519.5 + 2 452 c.221G>A c.(220-222)aGg>aAg p.R74K SUV39H2_ENST00000354919.6_Missense_Mutation_p.R134K|SUV39H2_ENST00000378325.3_Intron NM_001193425.1|NM_024670.3 NP_001180354.1|NP_078946.1 Q9H5I1 SUV92_HUMAN suppressor of variegation 3-9 homolog 2 (Drosophila) 134 Chromo. cell cycle|cell differentiation|chromatin assembly or disassembly|chromatin remodeling|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromatin|chromosome, centromeric region|nucleus histone methyltransferase activity (H3-K9 specific)|protein binding|zinc ion binding breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(6)|ovary(1) 19 GCTAAACAAAGGATAGCTCTG 0.368000 17 26 0 0 1 0 0 CNTNAP3 79937 broad.mit.edu 37 9 39175958 39175958 + Missense_Mutation SNP C C A TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr9:39175958C>A ENST00000297668.6 - 7 1132 c.1059G>T c.(1057-1059)caG>caT p.Q353H CNTNAP3_ENST00000377656.2_Missense_Mutation_p.Q353H|CNTNAP3_ENST00000377659.1_Missense_Mutation_p.Q353H|CNTNAP3_ENST00000358144.2_Missense_Mutation_p.Q265H|CNTNAP3_ENST00000377653.2_5'UTR|CNTNAP3_ENST00000323947.7_Missense_Mutation_p.Q353H NM_033655.3 NP_387504.2 Q9BZ76 CNTP3_HUMAN contactin associated protein-like 3 353 Laminin G-like 1. cell adhesion|cell recognition|signal transduction extracellular region|integral to membrane|plasma membrane receptor binding breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2) 24 GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681) TCATGAGGATCTGTGGTTTGT 0.353000 16 340 4.47668e-21 4.6759e-21 1 1 0 CRNN 49860 broad.mit.edu 37 1 152383101 152383101 + Nonsense_Mutation SNP G G A TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr1:152383101G>A ENST00000271835.3 - 3 519 c.457C>T c.(457-459)Cag>Tag p.Q153* RP1-91G5.3_ENST00000411804.1_RNA NM_016190.2 NP_057274.1 Q9UBG3 CRNN_HUMAN cornulin 153 Gln-rich. cell-cell adhesion|response to heat cytoplasm|membrane calcium ion binding breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 35 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) CCCTGGGTCTGAACCCCAGGC 0.602000 155 123 0 0 1 0 0 DAO 1610 broad.mit.edu 37 12 109293228 109293228 + Missense_Mutation SNP C C T TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr12:109293228C>T ENST00000228476.3 + 10 1093 c.889C>T c.(889-891)Cgc>Tgc p.R297C DAO_ENST00000551281.1_Missense_Mutation_p.R231C NM_001917.4 NP_001908.3 P14920 OXDA_HUMAN D-amino-acid oxidase 297 glyoxylate metabolic process peroxisomal matrix binding|D-amino-acid oxidase activity NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|skin(1) 26 AGAACAGCTTCGCACTGGACC 0.498000 6 11 0 0 1 0 0 IPO4 79711 broad.mit.edu 37 14 24654438 24654438 + Silent SNP G G A TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr14:24654438G>A ENST00000354464.6 - 14 1535 c.1359C>T c.(1357-1359)caC>caT p.H453H RP11-468E2.2_ENST00000561419.1_3'UTR NM_024658.3 NP_078934.3 Q8TEX9 IPO4_HUMAN importin 4 453 intracellular protein transport cytoplasm|nucleus protein binding|protein transporter activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|stomach(2)|urinary_tract(1) 33 GBM - Glioblastoma multiforme(265;0.0087) TGGCTAGGTGGTGTGTGTGTC 0.582000 13 27 0 0 1 0 0 ANKRD34B 340120 broad.mit.edu 37 5 79855005 79855005 + Silent SNP G G A TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr5:79855005G>A ENST00000338682.3 - 5 1506 c.834C>T c.(832-834)tcC>tcT p.S278S NM_001004441.2 NP_001004441.2 A5PLL1 AN34B_HUMAN ankyrin repeat domain 34B 278 cytoplasm|nucleus NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1) 28 Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.113) OV - Ovarian serous cystadenocarcinoma(54;2.17e-46)|Epithelial(54;5.64e-41)|all cancers(79;3.24e-36) TGGTTTTATAGGATAGTTCTT 0.468000 19 32 0 0 1 0 0 LAMB4 22798 broad.mit.edu 37 7 107671362 107671362 + Silent SNP C C T TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr7:107671362C>T ENST00000388781.3 - 32 4964 c.4881G>A c.(4879-4881)ctG>ctA p.L1627L LAMB4_ENST00000205386.4_Silent_p.L1627L|LAMB4_ENST00000483484.1_Intron|LAMB4_ENST00000388780.3_Silent_p.L1627L NM_007356.2 NP_031382.2 A4D0S4 LAMB4_HUMAN laminin, beta 4 1627 Domain I. cell adhesion basement membrane NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4) 97 GTCCATCCTCCAGCCCTGATC 0.483000 20 54 0 0 1 0 0 CDCP2 200008 broad.mit.edu 37 1 54606840 54606840 + Missense_Mutation SNP C C T rs141787724 TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr1:54606840C>T ENST00000371330.1 - 3 1541 c.694G>A c.(694-696)Gaa>Aaa p.E232K NM_201546.2 NP_963840.2 Q5VXM1 CDCP2_HUMAN CUB domain containing protein 2 232 CUB 2. extracellular region kidney(1)|large_intestine(6)|lung(13)|ovary(1)|prostate(2)|stomach(1) 24 ACCTGCAGTTCGTGGCCCAGA 0.637000 15 31 0 0 1 0 0 CILP 8483 broad.mit.edu 37 15 65495802 65495802 + Missense_Mutation SNP G G A TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr15:65495802G>A ENST00000261883.4 - 7 1092 c.926C>T c.(925-927)cCa>cTa p.P309L NM_003613.3 NP_003604.3 O75339 CILP1_HUMAN cartilage intermediate layer protein, nucleotide pyrophosphohydrolase 309 Ig-like C2-type. negative regulation of insulin-like growth factor receptor signaling pathway extracellular matrix part|extracellular space|proteinaceous extracellular matrix breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1) 55 CACCATGTATGGAGTCTCTGG 0.493000 12 31 0 0 1 0 0 SOGA2 23255 broad.mit.edu 37 18 8784510 8784510 + Missense_Mutation SNP C C T rs147236744 byFrequency TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr18:8784510C>T ENST00000359865.3 + 6 1542 c.1400C>T c.(1399-1401)aCg>aTg p.T467M SOGA2_ENST00000400050.3_Missense_Mutation_p.T467M|SOGA2_ENST00000517570.1_Missense_Mutation_p.T467M|SOGA2_ENST00000306329.11_Missense_Mutation_p.T827M|SOGA2_ENST00000306285.7_5'UTR NM_015210.3 NP_056025.2 Q9Y4B5 CC165_HUMAN SOGA family member 2 818 CTAGAGCGGACGGTGGAGCGC 0.677000 97 146 0 0 1 0 0 RNF32 140545 broad.mit.edu 37 7 156451241 156451241 + Missense_Mutation SNP A A G TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr7:156451241A>G ENST00000392741.2 + 6 749 c.661A>G c.(661-663)Aga>Gga p.R221G RNF32_ENST00000480011.1_3'UTR|RNF32_ENST00000432459.2_Missense_Mutation_p.R221G|RNF32_ENST00000405335.1_Missense_Mutation_p.R221G|RNF32_ENST00000317955.5_Missense_Mutation_p.R221G|RNF32_ENST00000392743.2_Missense_Mutation_p.R221G|RNF32_ENST00000343665.4_Missense_Mutation_p.R197G|RNF32_ENST00000311822.8_Missense_Mutation_p.R221G Q9H0A6 RNF32_HUMAN ring finger protein 32 221 aggresome|endosome protein binding|zinc ion binding cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(2) 15 Ovarian(565;0.218) all_hematologic(28;0.0592) OV - Ovarian serous cystadenocarcinoma(82;0.00291) UCEC - Uterine corpus endometrioid carcinoma (81;0.169) TGCCAAGTTAAGAAAAAAATT 0.418000 7 29 0 0 1 0 0 LPL 4023 broad.mit.edu 37 8 19805727 19805727 + Missense_Mutation SNP C C T TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr8:19805727C>T ENST00000311322.8 + 2 595 c.125C>T c.(124-126)gCc>gTc p.A42V LPL_ENST00000521994.1_3'UTR NM_000237.2 NP_000228.1 P06858 LIPL_HUMAN lipoprotein lipase 42 fatty acid biosynthetic process|lipoprotein metabolic process|phospholipid metabolic process|positive regulation of cholesterol storage|positive regulation of sequestering of triglyceride|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling anchored to membrane|chylomicron|plasma membrane|very-low-density lipoprotein particle heparin binding|lipoprotein lipase activity|phospholipase activity|receptor binding|triglyceride lipase activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 36 Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216) Clofibrate(DB00636)|Gemfibrozil(DB01241)|Orlistat(DB01083) AGTAAATTTGCCCTAAGGACC 0.438000 25 17 0 0 1 0 0 AK7 122481 broad.mit.edu 37 14 96875192 96875192 + Missense_Mutation SNP G G A TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr14:96875192G>A ENST00000267584.4 + 4 456 c.412G>A c.(412-414)Gaa>Aaa p.E138K AK7_ENST00000554313.1_3'UTR NM_152327.3 NP_689540.2 Q96M32 KAD7_HUMAN adenylate kinase 7 138 cell projection organization cytosol adenylate kinase activity|ATP binding|cytidylate kinase activity breast(2)|cervix(2)|endometrium(3)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 31 all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155) Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228) AGCACTCAGTGAAGAAGTCAG 0.478000 7 15 0 0 1 0 0 TANC1 85461 broad.mit.edu 37 2 160032985 160032985 + Missense_Mutation SNP C C T TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr2:160032985C>T ENST00000263635.6 + 13 2095 c.1858C>T c.(1858-1860)Cct>Tct p.P620S TANC1_ENST00000454300.1_Missense_Mutation_p.P514S NM_001145909.1|NM_033394.2 NP_001139381.1|NP_203752.2 Q9C0D5 TANC1_HUMAN tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1 620 cell junction|postsynaptic density|postsynaptic membrane binding breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2) 77 TTCTAAATTTCCTGCCTGGTT 0.318000 11 16 0 0 1 0 0 ZNF792 126375 broad.mit.edu 37 19 35450231 35450231 + Silent SNP G G A TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr19:35450231G>A ENST00000404801.1 - 4 914 c.528C>T c.(526-528)ccC>ccT p.P176P ZNF792_ENST00000605484.1_Silent_p.P109P NM_175872.4 NP_787068.3 Q3KQV3 ZN792_HUMAN zinc finger protein 792 176 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5) 12 all_lung(56;4.18e-08)|Lung NSC(56;6.62e-08)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0849) CCTGTTTCCGGGGAAGGTTTG 0.502000 72 147 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9074964 9074964 + Missense_Mutation SNP G G A TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr19:9074964G>A ENST00000397910.4 - 3 12685 c.12482C>T c.(12481-12483)tCc>tTc p.S4161F NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 4163 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 AGGTACCAGGGAAGAGGAAGA 0.483000 20 43 0 0 1 0 0 PCDH15 65217 broad.mit.edu 37 10 55582728 55582728 + Silent SNP C C T TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr10:55582728C>T ENST00000361849.3 - 34 5158 c.4764G>A c.(4762-4764)agG>agA p.R1588R PCDH15_ENST00000320301.6_Silent_p.R1586R|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395445.1_Intron|PCDH15_ENST00000395432.2_Silent_p.R1546R|PCDH15_ENST00000395438.1_Intron|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000437009.1_Silent_p.R1517R|PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395430.1_Silent_p.R1583R|PCDH15_ENST00000395433.1_Silent_p.R1563R|PCDH15_ENST00000414778.1_Intron NM_001142763.1|NM_001142764.1|NM_001142765.1|NM_001142768.1 NP_001136235.1|NP_001136236.1|NP_001136237.1|NP_001136240.1 Q96QU1 PCD15_HUMAN protocadherin-related 15 1586 equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1) 237 Melanoma(3;0.117)|Lung SC(717;0.238) TTGGAACTTTCCTCATCAGCC 0.468000 HNSCC(58;0.16) 40 50 0 0 1 0 0 FAT3 120114 broad.mit.edu 37 11 92087970 92087970 + Missense_Mutation SNP G G A TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr11:92087970G>A ENST00000298047.6 + 1 2709 c.2692G>A c.(2692-2694)Gcc>Acc p.A898T FAT3_ENST00000409404.2_Missense_Mutation_p.A898T|FAT3_ENST00000525166.1_Missense_Mutation_p.A748T|FAT3_ENST00000541502.1_Missense_Mutation_p.A898T Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 898 Cadherin 8. homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) GGAATCCAAAGCCAATTATTC 0.418000 TCGA Ovarian(4;0.039) 29 70 0 0 1 0 0 NOTCH2 4853 broad.mit.edu 37 1 120468308 120468308 + Silent SNP G G A TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr1:120468308G>A ENST00000256646.2 - 25 4350 c.4131C>T c.(4129-4131)ggC>ggT p.G1377G NM_024408.3 NP_077719.2 Q04721 NOTC2_HUMAN notch 2 1377 EGF-like 35. anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 158 all_neural(166;0.153) all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809) Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133) TACTGGCACAGCCTGACTCGC 0.652000 """N, F, Mis""" """marginal zone lymphoma, DLBCL""" Alagille Syndrome 51 27 0 0 1 0 0 SPTA1 6708 broad.mit.edu 37 1 158617384 158617384 + Missense_Mutation SNP G G A TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr1:158617384G>A ENST00000368148.3 - 27 4021 c.3841C>T c.(3841-3843)Cgt>Tgt p.R1281C SPTA1_ENST00000368147.3_Missense_Mutation_p.R1281C NM_003126.2 NP_003117.2 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 (elliptocytosis 2) 1281 actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton p.R1281C(1) NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6) 307 all_hematologic(112;0.0378) CTCTCCTTACGATCCTTTGTA 0.547000 34 49 0 0 1 0 0 SHROOM4 57477 broad.mit.edu 37 X 50377764 50377764 + Missense_Mutation SNP G G A TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chrX:50377764G>A ENST00000376020.2 - 4 1334 c.1309C>T c.(1309-1311)Cca>Tca p.P437S SHROOM4_ENST00000460112.3_Missense_Mutation_p.P321S|SHROOM4_ENST00000289292.7_Missense_Mutation_p.P437S NM_020717.3 NP_065768.2 Q9ULL8 SHRM4_HUMAN shroom family member 4 437 actin filament organization|brain development|cell morphogenesis|cognition apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus actin filament binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 52 Ovarian(276;0.236) TGTACGGGTGGGAGCTCCATC 0.597000 23 10 0 0 1 0 0 RBL2 5934 broad.mit.edu 37 16 53487495 53487495 + Missense_Mutation SNP C C A TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr16:53487495C>A ENST00000262133.6 + 6 1035 c.898C>A c.(898-900)Ccc>Acc p.P300T RBL2_ENST00000544545.1_Missense_Mutation_p.P84T|RBL2_ENST00000379935.4_3'UTR NM_005611.3 NP_005602.3 Q08999 RBL2_HUMAN retinoblastoma-like 2 (p130) 300 cell cycle|chromatin modification|regulation of cell cycle|regulation of lipid kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|protein binding breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 TTTCTGGAAACCCTATATTAG 0.353000 23 35 4.26978e-12 4.37954e-12 1 1 0 KRT37 8688 broad.mit.edu 37 17 39578598 39578598 + Missense_Mutation SNP C C T TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr17:39578598C>T ENST00000225550.3 - 4 820 c.821G>A c.(820-822)gGg>gAg p.G274E AC003958.2_ENST00000432258.1_RNA NM_003770.4 NP_003761.3 O76014 KRT37_HUMAN keratin 37 274 Coil 2.|Rod. intermediate filament structural molecule activity NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(6)|skin(3) 25 Breast(137;0.000496) CCGCATCTCCCCCAACACCCT 0.572000 39 75 0 0 1 0 0 DCC 1630 broad.mit.edu 37 18 50432657 50432657 + Missense_Mutation SNP G G A TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr18:50432657G>A ENST00000442544.2 + 3 1272 c.656G>A c.(655-657)aGc>aAc p.S219N DCC_ENST00000412726.1_Missense_Mutation_p.S67N NM_005215.3 NP_005206.2 P43146 DCC_HUMAN deleted in colorectal carcinoma 219 Ig-like C2-type 2. apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development cytosol|integral to membrane NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6) 148 all_cancers(7;0.11)|all_epithelial(6;0.00126) Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942) AATCCAGCCAGCTCAAGAACA 0.463000 5 54 0 0 1 0 0 SIGLEC6 946 broad.mit.edu 37 19 52033150 52033150 + Silent SNP G G A TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr19:52033150G>A ENST00000346477.3 - 4 860 c.792C>T c.(790-792)ccC>ccT p.P264P SIGLEC6_ENST00000359982.4_Silent_p.P291P|SIGLEC6_ENST00000343300.4_Silent_p.P280P|SIGLEC6_ENST00000436458.1_Silent_p.P228P|SIGLEC6_ENST00000391797.3_Silent_p.P269P|SIGLEC6_ENST00000425629.3_Silent_p.P280P NM_198845.4 NP_942142.3 O43699 SIGL6_HUMAN sialic acid binding Ig-like lectin 6 280 Ig-like C2-type 2. cell adhesion|cell-cell signaling cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1) 28 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165) GGTGTGCAGGGGGGTTGCCGT 0.627000 19 60 0 0 1 0 0 DNAH9 1770 broad.mit.edu 37 17 11772518 11772518 + Missense_Mutation SNP G G T TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr17:11772518G>T ENST00000262442.3 + 51 10069 c.10001G>T c.(10000-10002)tGt>tTt p.C3334F DNAH9_ENST00000454412.2_Missense_Mutation_p.C3334F NM_001372.3 NP_001363.2 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 3334 Stalk (By similarity). cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4) 290 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) AAACTCAAATGTCAGCAAGAA 0.488000 26 42 1.66031e-10 1.68995e-10 1 1 0 ANKRD1 27063 broad.mit.edu 37 10 92678945 92678945 + Silent SNP C C T TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr10:92678945C>T ENST00000371697.3 - 3 536 c.288G>A c.(286-288)agG>agA p.R96R NM_014391.2 NP_055206.2 Q15327 ANKR1_HUMAN ankyrin repeat domain 1 (cardiac muscle) 96 cellular lipid metabolic process|defense response|signal transduction DNA binding autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|prostate(3)|skin(1) 27 Colorectal(252;0.0475) TGTATTTTTTCCTTTTCTTCA 0.303000 5 17 0 0 1 0 0 LRRC2 79442 broad.mit.edu 37 3 46580620 46580620 + Silent SNP G G A TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr3:46580620G>A ENST00000395905.3 - 4 797 c.405C>T c.(403-405)atC>atT p.I135I LRRC2_ENST00000296144.3_Silent_p.I135I NM_024512.4 NP_078788.2 Q9BYS8 LRRC2_HUMAN leucine rich repeat containing 2 135 breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1) 17 Ovarian(412;0.0563) OV - Ovarian serous cystadenocarcinoma(275;6.37e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00133)|KIRC - Kidney renal clear cell carcinoma(197;0.0214)|Kidney(197;0.0254) ATGTAGGAATGATTTGAATCA 0.378000 20 38 0 0 1 0 0 GAL3ST2 64090 broad.mit.edu 37 2 242716379 242716379 + Silent SNP C C T TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr2:242716379C>T ENST00000192314.6 + 1 140 c.9C>T c.(7-9)tcC>tcT p.S3S NM_022134.2 NP_071417.2 Q9H3Q3 G3ST2_HUMAN galactose-3-O-sulfotransferase 2 3 biosynthetic process Golgi cisterna membrane|integral to membrane galactosylceramide sulfotransferase activity endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|prostate(1)|skin(1) 14 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;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-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;0.0833) AGATGATGTCCATGCTGGGCG 0.652000 5 12 0 0 1 0 0 GIMAP6 474344 broad.mit.edu 37 7 150324855 150324855 + Silent SNP C C T TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr7:150324855C>T ENST00000328902.5 - 3 1047 c.831G>A c.(829-831)aaG>aaA p.K277K GIMAP6_ENST00000493969.1_3'UTR NM_001244072.1|NM_024711.5 NP_001231001.1|NP_078987.3 Q6P9H5 GIMA6_HUMAN GTPase, IMAP family member 6 277 GTP binding endometrium(4)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 29 OV - Ovarian serous cystadenocarcinoma(82;0.0145) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) CCTCAGATTCCTTCTGGATCT 0.577000 21 57 0 0 1 0 0 PCLO 27445 broad.mit.edu 37 7 82595241 82595241 + Missense_Mutation SNP C C T TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr7:82595241C>T ENST00000423517.2 - 4 4200 c.3863G>A c.(3862-3864)gGg>gAg p.G1288E PCLO_ENST00000333891.8_Missense_Mutation_p.G1288E NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 1227 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 TGGTTGTTTCCCTTCTTGCAC 0.413000 24 45 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179605605 179605605 + Missense_Mutation SNP C C T TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr2:179605605C>T ENST00000589042.1 - 48 12579 c.12355G>A c.(12355-12357)Gag>Aag p.E4119K TTN_ENST00000342175.6_Missense_Mutation_p.E3948K|TTN_ENST00000359218.5_Missense_Mutation_p.E3881K|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E3802K|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000460472.2_Missense_Mutation_p.E3756K|TTN-AS1_ENST00000585451.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 3802 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) TTGTCTTGCTCCAAAATGGAT 0.438000 20 49 0 0 1 0 0 SLC39A12 221074 broad.mit.edu 37 10 18284622 18284622 + Missense_Mutation SNP T T A TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr10:18284622T>A ENST00000377369.2 + 10 1844 c.1571T>A c.(1570-1572)aTa>aAa p.I524K SLC39A12_ENST00000539911.1_Missense_Mutation_p.I390K|SLC39A12_ENST00000377371.3_Missense_Mutation_p.I523K|SLC39A12_ENST00000377374.4_Missense_Mutation_p.I487K NM_001145195.1 NP_001138667.1 Q504Y0 S39AC_HUMAN solute carrier family 39 (zinc transporter), member 12 524 zinc ion transport integral to membrane metal ion transmembrane transporter activity NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 60 GAAATGCCTATAGGCAGTATG 0.328000 13 23 0 0 1 0 0 GABRA1 2554 broad.mit.edu 37 5 161324264 161324264 + Missense_Mutation SNP G G A TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr5:161324264G>A ENST00000428797.2 + 11 1562 c.1207G>A c.(1207-1209)Gaa>Aaa p.E403K GABRA1_ENST00000393943.4_Missense_Mutation_p.E403K|GABRA1_ENST00000444819.1_Missense_Mutation_p.E403K|GABRA1_ENST00000437025.2_Missense_Mutation_p.E403K|GABRA1_ENST00000420560.1_Missense_Mutation_p.E403K|GABRA1_ENST00000023897.6_Missense_Mutation_p.E403K NM_001127643.1 NP_001121115.1 P14867 GBRA1_HUMAN gamma-aminobutyric acid (GABA) A receptor, alpha 1 403 gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity p.E403K(1) NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1) 42 Renal(175;0.00259) Medulloblastoma(196;0.0208)|all_neural(177;0.0672) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.228) Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425) GGTCAAGCCCGAAACAAAACC 0.473000 25 70 0 0 1 0 0 PDE1C 5137 broad.mit.edu 37 7 31918648 31918648 + Missense_Mutation SNP C C T TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr7:31918648C>T ENST00000396184.3 - 5 590 c.386G>A c.(385-387)aGc>aAc p.S129N PDE1C_ENST00000396191.1_Missense_Mutation_p.S129N|PDE1C_ENST00000321453.7_Missense_Mutation_p.S129N|PDE1C_ENST00000396193.1_Missense_Mutation_p.S189N|PDE1C_ENST00000396182.2_Missense_Mutation_p.S129N NM_005020.2 NP_005011.1 Q14123 PDE1C_HUMAN phosphodiesterase 1C, calmodulin-dependent 70kDa 129 activation of phospholipase C activity|nerve growth factor receptor signaling pathway cytosol calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 81 GBM - Glioblastoma multiforme(11;0.216) GTGAACGATGCTCTTGAACCG 0.527000 21 48 0 0 1 0 0 NEB 4703 broad.mit.edu 37 2 152582002 152582002 + Missense_Mutation SNP G G A TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr2:152582002G>A ENST00000427231.2 - 6 569 c.367C>T c.(367-369)Cgc>Tgc p.R123C NEB_ENST00000397345.3_Missense_Mutation_p.R123C|NEB_ENST00000603639.1_Missense_Mutation_p.R123C|NEB_ENST00000172853.10_Missense_Mutation_p.R123C|NEB_ENST00000604864.1_Missense_Mutation_p.R123C|NEB_ENST00000409198.1_Missense_Mutation_p.R123C NM_001164507.1 NP_001157979.1 P20929 NEBU_HUMAN nebulin 123 muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development actin cytoskeleton|cytosol|Z disc actin binding|structural constituent of muscle NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2) 301 BRCA - Breast invasive adenocarcinoma(221;0.219) TTGATTCTGCGAAGTTCTGGA 0.393000 40 60 0 0 1 0 0 PCDHA11 56138 broad.mit.edu 37 5 140248703 140248703 + Silent SNP G G A TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr5:140248703G>A ENST00000398640.2 + 1 15 c.15G>A c.(13-15)caG>caA p.Q5Q PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron NM_018902.3 NP_061725.1 breast(1)|lung(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TTGGTTTTCAGAGAAGGGGAT 0.488000 26 39 0 0 1 0 0 SPEG 10290 broad.mit.edu 37 2 220342491 220342491 + Missense_Mutation SNP C C T TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr2:220342491C>T ENST00000312358.7 + 21 4942 c.4810C>T c.(4810-4812)Cac>Tac p.H1604Y SPEG_ENST00000485813.1_3'UTR NM_005876.4 NP_005867.3 Q15772 SPEG_HUMAN SPEG complex locus 1604 Protein kinase 1. muscle organ development|negative regulation of cell proliferation nucleus ATP binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4) 100 Renal(207;0.0183) Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163) TTATGACATCCACCAGGAGAT 0.622000 11 27 0 0 1 0 0 ZDHHC8 29801 broad.mit.edu 37 22 20129012 20129012 + Missense_Mutation SNP C C T TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr22:20129012C>T ENST00000334554.7 + 9 1225 c.1084C>T c.(1084-1086)Ccc>Tcc p.P362S ZDHHC8_ENST00000320602.7_Missense_Mutation_p.P270S|ZDHHC8_ENST00000405930.3_Missense_Mutation_p.P362S|ZDHHC8_ENST00000468112.1_3'UTR NM_013373.3 NP_037505.1 Q9ULC8 ZDHC8_HUMAN zinc finger, DHHC-type containing 8 362 cytoplasmic vesicle membrane|integral to membrane acyltransferase activity|zinc ion binding breast(2)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(1)|prostate(1) 20 Colorectal(54;0.0993) GCCGGCTTTCCCCACGGGTCC 0.662000 10 15 0 0 1 0 0 EPHA8 2046 broad.mit.edu 37 1 22927228 22927228 + Silent SNP G G T TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr1:22927228G>T ENST00000166244.3 + 14 2535 c.2463G>T c.(2461-2463)gtG>gtT p.V821V NM_020526.3 NP_065387.1 P29322 EPHA8_HUMAN EPH receptor A8 821 Protein kinase. integral to plasma membrane ATP binding|ephrin receptor activity breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 61 Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199) CCAGCGACGTGTGGAGCTTCG 0.657000 32 81 3.03874e-20 3.16568e-20 1 1 0 GRIN2A 2903 broad.mit.edu 37 16 9858266 9858266 + Silent SNP G G A TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr16:9858266G>A ENST00000396573.2 - 14 3444 c.3135C>T c.(3133-3135)tcC>tcT p.S1045S GRIN2A_ENST00000330684.3_Silent_p.S1045S|GRIN2A_ENST00000396575.2_Silent_p.S1045S|GRIN2A_ENST00000562109.1_Silent_p.S1045S|GRIN2A_ENST00000535259.1_Silent_p.S888S|GRIN2A_ENST00000404927.2_Silent_p.S1045S NM_000833.3 NP_000824.1 Q12879 NMDE1_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2A 1045 response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1) 198 Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) GGCTCTTTAGGGAGTGGGTCC 0.512000 42 91 0 0 1 0 0 OR10Z1 128368 broad.mit.edu 37 1 158576822 158576822 + Silent SNP G G A TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr1:158576822G>A ENST00000361284.1 + 1 594 c.594G>A c.(592-594)agG>agA p.R198R NM_001004478.1 NP_001004478.1 Q8NGY1 O10Z1_HUMAN olfactory receptor, family 10, subfamily Z, member 1 198 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4) 37 all_hematologic(112;0.0378) GTGAGCTGAGGATCTTTATCC 0.512000 38 56 0 0 1 0 0 CASP8AP2 9994 broad.mit.edu 37 6 90577400 90577400 + RNA SNP C C T TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr6:90577400C>T ENST00000551025.1 + 0 5828 Q9UKL3 C8AP2_HUMAN caspase 8 associated protein 2 cell cycle|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent cytoplasm|nucleus caspase activator activity|death receptor binding|transcription corepressor activity NS(1)|endometrium(7)|kidney(6)|large_intestine(12)|lung(21)|ovary(2)|urinary_tract(2) 51 all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238) BRCA - Breast invasive adenocarcinoma(108;0.0953) CCTGATATGTCGTCCAGTTCA 0.408000 15 3 0 0 1 0 0 SLFN13 146857 broad.mit.edu 37 17 33768044 33768044 + Missense_Mutation SNP T T C TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr17:33768044T>C ENST00000285013.6 - 6 2539 c.2264A>G c.(2263-2265)aAt>aGt p.N755S SLFN13_ENST00000533791.1_Missense_Mutation_p.N755S|SLFN13_ENST00000360502.2_Missense_Mutation_p.N437S|SLFN13_ENST00000542635.1_Missense_Mutation_p.N755S|SLFN13_ENST00000526861.1_Missense_Mutation_p.N755S|SLFN13_ENST00000534689.1_Missense_Mutation_p.N437S NM_144682.5 NP_653283.3 Q68D06 SLN13_HUMAN schlafen family member 13 755 intracellular ATP binding NS(1)|breast(1)|endometrium(1)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|prostate(5)|stomach(1) 31 UCEC - Uterine corpus endometrioid carcinoma (308;0.0185) ATGGGGGATATTAATTGGAGG 0.383000 37 49 0 0 1 0 0 OR8B3 390271 broad.mit.edu 37 11 124266544 124266544 + Missense_Mutation SNP G G A TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr11:124266544G>A ENST00000354597.3 - 1 720 c.704C>T c.(703-705)tCa>tTa p.S235L NM_001005467.1 NP_001005467.1 Q8NGG8 OR8B3_HUMAN olfactory receptor, family 8, subfamily B, member 3 235 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 14 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) GAAGGCTTTTGATCTTCCTTG 0.378000 23 23 0 0 1 0 0 FBXO40 51725 broad.mit.edu 37 3 121340573 121340573 + Nonsense_Mutation SNP G G A TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr3:121340573G>A ENST00000338040.4 + 3 711 c.297G>A c.(295-297)tgG>tgA p.W99* NM_016298.3 NP_057382.2 Q9UH90 FBX40_HUMAN F-box protein 40 99 muscle cell differentiation centrosome|nucleus ubiquitin-protein ligase activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 46 GBM - Glioblastoma multiforme(114;0.189) CCATGGAGTGGAACCGCTGGC 0.582000 27 46 0 0 1 0 0 SNHG14 104472715 broad.mit.edu 37 15 25468221 25468221 + RNA SNP G G A rs138842015 by1000genomes TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr15:25468221G>A ENST00000453082.2 + 0 769 NR_003343.1 GAGACTTGAGGAAGACTTCCA 0.612000 6 9 0 0 1 0 0 EPPK1 83481 broad.mit.edu 37 8 144945600 144945600 + Missense_Mutation SNP C C T TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr8:144945600C>T ENST00000525985.1 - 2 1893 c.1822G>A c.(1822-1824)Ggt>Agt p.G608S P58107 EPIPL_HUMAN epiplakin 1 608 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) CAGCCCGTACCCTGCAGGTAC 0.662000 5 13 0 0 1 0 0 ARHGAP5 394 broad.mit.edu 37 14 32560645 32560645 + Missense_Mutation SNP C C T TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr14:32560645C>T ENST00000345122.3 + 2 1085 c.770C>T c.(769-771)cCc>cTc p.P257L ARHGAP5_ENST00000396582.2_Intron|ARHGAP5_ENST00000433497.1_Intron|ARHGAP5_ENST00000556611.1_Missense_Mutation_p.P257L|ARHGAP5_ENST00000539826.2_Missense_Mutation_p.P257L|ARHGAP5_ENST00000432921.1_Missense_Mutation_p.P257L NM_001030055.1 NP_001025226.1 Q13017 RHG05_HUMAN Rho GTPase activating protein 5 257 cell adhesion|Rho protein signal transduction cytosol|membrane GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4) 55 Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186) LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173) GBM - Glioblastoma multiforme(265;0.00566) AAAATTATTCCCTATTTGGAT 0.363000 29 73 0 0 1 0 0 USHBP1 83878 broad.mit.edu 37 19 17370097 17370097 + Splice_Site SNP C C T TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr19:17370097C>T ENST00000252597.3 - 7 1220 c.e7+1 USHBP1_ENST00000431146.2_Splice_Site NM_031941.3 NP_114147.2 Q8N6Y0 USBP1_HUMAN Usher syndrome 1C binding protein 1 PDZ domain binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(10)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 44 GGTGCACTGACCTGTACTGCA 0.612000 11 23 0 0 1 0 0 TANC2 26115 broad.mit.edu 37 17 61498504 61498504 + Nonsense_Mutation SNP C C T TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr17:61498504C>T ENST00000424789.2 + 25 5165 c.5161C>T c.(5161-5163)Cag>Tag p.Q1721* RP11-269G24.3_ENST00000583552.1_RNA|TANC2_ENST00000389520.4_Nonsense_Mutation_p.Q1731* NM_025185.3 NP_079461.2 Q9HCD6 TANC2_HUMAN tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2 1721 binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3) 44 CGGACGCAGCCAGTCAGCATC 0.527000 40 111 0 0 1 0 0 FGD1 2245 broad.mit.edu 37 X 54492241 54492241 + Missense_Mutation SNP G G A TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chrX:54492241G>A ENST00000375135.3 - 7 2118 c.1385C>T c.(1384-1386)cCc>cTc p.P462L NM_004463.2 NP_004454.2 P98174 FGD1_HUMAN FYVE, RhoGEF and PH domain containing 1 462 DH. actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|organ morphogenesis|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction cytoskeleton|cytosol|Golgi apparatus|lamellipodium|nucleus|plasma membrane|ruffle metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 39 CTTGAGGAAGGGGGCCAGTTT 0.542000 10 10 0 0 1 0 0 C4B 721 broad.mit.edu 37 6 31996586 31996586 + Missense_Mutation SNP C C T TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr6:31996586C>T ENST00000435363.2 + 26 3431 c.3347C>T c.(3346-3348)tCg>tTg p.S1116L C4B_ENST00000425700.2_Missense_Mutation_p.S1116L NM_001002029.3 NP_001002029.3 P0C0L5 CO4B_HUMAN complement component 4B (Chido blood group) 1116 complement activation, classical pathway|inflammatory response|innate immune response extracellular space endopeptidase inhibitor activity GCTGACGGCTCGTTCCAGGAC 0.602000 35 114 0 0 1 0 0 DMBT1 1755 broad.mit.edu 37 10 124392850 124392850 + Missense_Mutation SNP G G A TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr10:124392850G>A ENST00000338354.3 + 49 6260 c.6154G>A c.(6154-6156)Gat>Aat p.D2052N DMBT1_ENST00000344338.3_Missense_Mutation_p.D2042N|DMBT1_ENST00000368955.3_Missense_Mutation_p.D2042N|DMBT1_ENST00000368909.3_Missense_Mutation_p.D2052N|DMBT1_ENST00000359586.6_Missense_Mutation_p.D772N|DMBT1_ENST00000368956.2_Missense_Mutation_p.D1424N|DMBT1_ENST00000330163.4_Missense_Mutation_p.D1424N Q9UGM3 DMBT1_HUMAN deleted in malignant brain tumors 1 2052 CUB 2. epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3) 72 all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238) GATCTTCAGAGATGTCCAGTA 0.498000 9 25 0 0 1 0 0 HEPHL1 341208 broad.mit.edu 37 11 93806473 93806473 + Splice_Site SNP G G A TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr11:93806473G>A ENST00000315765.9 + 8 1380 c.e8-1 NM_001098672.1 NP_001092142.1 Q6MZM0 HPHL1_HUMAN hephaestin-like 1 copper ion transport integral to membrane copper ion binding|oxidoreductase activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 61 Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824) TATTTTTTCAGGCCCAGTCAT 0.433000 12 7 0 0 1 0 0 SIM1 6492 broad.mit.edu 37 6 100838895 100838895 + Missense_Mutation SNP C C T rs149460504 TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr6:100838895C>T ENST00000369208.3 - 12 2425 c.1643G>A c.(1642-1644)cGa>cAa p.R548Q SIM1_ENST00000262901.4_Missense_Mutation_p.R548Q P81133 SIM1_HUMAN single-minded family bHLH transcription factor 1 548 Single-minded C-terminal. 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) AGTACGATATCGGTCACCTGA 0.428000 18 11 0 0 1 0 0 PTPRT 11122 broad.mit.edu 37 20 41306778 41306778 + Missense_Mutation SNP G G A TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr20:41306778G>A ENST00000373198.3 - 7 1116 c.881C>T c.(880-882)cCc>cTc p.P294L PTPRT_ENST00000373184.1_Missense_Mutation_p.P294L|PTPRT_ENST00000373190.1_Missense_Mutation_p.P294L|PTPRT_ENST00000373193.3_Missense_Mutation_p.P294L|PTPRT_ENST00000373187.1_Missense_Mutation_p.P294L|PTPRT_ENST00000356100.2_Missense_Mutation_p.P294L|PTPRT_ENST00000373201.1_Missense_Mutation_p.P294L NM_133170.3 NP_573400.3 O14522 PTPRT_HUMAN protein tyrosine phosphatase, receptor type, T 294 Fibronectin type-III 1. homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway cell surface|integral to membrane|plasma membrane alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity p.P294L(1) 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) CAGCTCTGGGGGAGCAATGGG 0.512000 11 10 0 0 1 0 0 MGAM 8972 broad.mit.edu 37 7 141730243 141730243 + Missense_Mutation SNP G G A TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr7:141730243G>A ENST00000475668.2 + 11 1357 c.1303G>A c.(1303-1305)Gaa>Aaa p.E435K MGAM_ENST00000549489.2_Missense_Mutation_p.E435K O43451 MGA_HUMAN maltase-glucoamylase (alpha-glucosidase) 435 Maltase. polysaccharide digestion|starch catabolic process apical plasma membrane|integral to membrane carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2) 13 Melanoma(164;0.0272) Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878) AGGCTTCCCTGAATTTGTCAA 0.383000 9 29 0 0 1 0 0 PCDHA9 9752 broad.mit.edu 37 5 140228398 140228398 + Silent SNP G G A TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr5:140228398G>A ENST00000378122.3 + 1 1042 c.318G>A c.(316-318)ctG>ctA p.L106L PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA9_ENST00000532602.1_Silent_p.L106L|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529859.1_Intron NM_014005.3 NP_054724.1 breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 59 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCATCCACCTGGAGGTGATCG 0.547000 26 20 0 0 1 0 0 OR4A15 81328 broad.mit.edu 37 11 55135679 55135679 + Missense_Mutation SNP C C T TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr11:55135679C>T ENST00000314706.3 + 1 320 c.320C>T c.(319-321)cCc>cTc p.P107L NM_001005275.1 NP_001005275.1 Q8NGL6 O4A15_HUMAN olfactory receptor, family 4, subfamily A, member 15 107 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 71 GCATTTGCTCCCAAAATGATT 0.418000 26 74 0 0 1 0 0 GRIP1 23426 broad.mit.edu 37 12 66838466 66838466 + Missense_Mutation SNP C C T TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr12:66838466C>T ENST00000359742.4 - 13 1825 c.1585G>A c.(1585-1587)Gga>Aga p.G529R GRIP1_ENST00000286445.7_Missense_Mutation_p.G529R|GRIP1_ENST00000398016.3_Missense_Mutation_p.G477R Q9Y3R0 GRIP1_HUMAN glutamate receptor interacting protein 1 529 PDZ 4. androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1) 50 GBM - Glioblastoma multiforme(2;0.00069) GBM - Glioblastoma multiforme(28;0.0933) GTTGGAATTCCATTGATGGCC 0.458000 20 34 0 0 1 0 0 TPRG1 285386 broad.mit.edu 37 3 188956652 188956652 + Missense_Mutation SNP C C T TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr3:188956652C>T ENST00000345063.3 + 4 600 c.433C>T c.(433-435)Cgc>Tgc p.R145C TPRG1_ENST00000433971.1_Missense_Mutation_p.R145C|TPRG1-AS2_ENST00000425454.1_RNA NM_198485.3 NP_940887.1 Q6ZUI0 TPRG1_HUMAN tumor protein p63 regulated 1 145 p.R145C(1) endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|skin(2)|urinary_tract(1) 16 all_cancers(143;6.12e-12)|all_hematologic(3;0.0359)|Ovarian(172;0.0925) all_lung(153;8.23e-09)|Lung NSC(153;3.55e-06)|all_neural(597;0.0019)|Myeloproliferative disorder(1037;0.0255) Lung(62;6.93e-06) GBM - Glioblastoma multiforme(93;4.77e-14) CGCTGTCTATCGCATCTGCCT 0.498000 20 32 0 0 1 0 0 CDC42BPB 9578 broad.mit.edu 37 14 103416169 103416169 + Silent SNP G G A TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr14:103416169G>A ENST00000361246.2 - 26 3670 c.3382C>T c.(3382-3384)Ctg>Ttg p.L1128L NM_006035.3 NP_006026.3 Q9Y5S2 MRCKB_HUMAN CDC42 binding protein kinase beta (DMPK-like) 1128 PH. actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction cell leading edge|cell-cell junction|cytoplasm|cytoskeleton ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1) 49 Melanoma(154;0.155) Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199) AGATCATACAGGAAGAGCTTG 0.537000 31 60 0 0 1 0 0 FAM222B 55731 broad.mit.edu 37 17 27085398 27085398 + Nonsense_Mutation SNP G G A TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr17:27085398G>A ENST00000341217.5 - 3 1794 c.1579C>T c.(1579-1581)Cga>Tga p.R527* FAM222B_ENST00000582266.1_3'UTR|FAM222B_ENST00000581407.1_Nonsense_Mutation_p.R527*|FAM222B_ENST00000452648.3_Nonsense_Mutation_p.R527* NM_018182.2 NP_060652.2 Q8WU58 CQ063_HUMAN family with sequence similarity 222, member B 527 CTCTGTTCTCGGAAGCAGGCC 0.602000 16 28 0 0 1 0 0 NIN 51199 broad.mit.edu 37 14 51204893 51204893 + Nonsense_Mutation SNP G G A TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr14:51204893G>A ENST00000245441.5 - 27 5930 c.5740C>T c.(5740-5742)Cag>Tag p.Q1914* NIN_ENST00000382041.3_Nonsense_Mutation_p.Q1914*|NIN_ENST00000324330.9_Nonsense_Mutation_p.Q1914*|NIN_ENST00000389868.3_Nonsense_Mutation_p.Q1201*|NIN_ENST00000382043.4_Nonsense_Mutation_p.Q1201*|NIN_ENST00000530997.2_Nonsense_Mutation_p.Q1914*|NIN_ENST00000453196.1_Nonsense_Mutation_p.Q1914* NM_020921.3 NP_065972.3 Q8N4C6 NIN_HUMAN ninein (GSK3B interacting protein) 1914 centrosome localization centrosome|microtubule calcium ion binding|GTP binding|protein binding breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5) 71 all_epithelial(31;0.00244)|Breast(41;0.127) TTCTGAAACTGATCACACTCT 0.393000 T PDGFRB MPD 33 45 0 0 1 0 0 CCDC54 84692 broad.mit.edu 37 3 107096588 107096588 + Missense_Mutation SNP G G A TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr3:107096588G>A ENST00000261058.1 + 1 401 c.154G>A c.(154-156)Gat>Aat p.D52N NM_032600.2 NP_115989.1 Q8NEL0 CCD54_HUMAN coiled-coil domain containing 54 52 NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 19 GACATCTGATGATTGTAATCA 0.373000 36 55 0 0 1 0 0 DUOX2 50506 broad.mit.edu 37 15 45396351 45396351 + Silent SNP C C T TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr15:45396351C>T ENST00000389039.6 - 19 2932 c.2547G>A c.(2545-2547)gtG>gtA p.V849V DUOX2_ENST00000603300.1_Silent_p.V849V Q9NRD8 DUOX2_HUMAN dual oxidase 2 849 EF-hand 1. cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus apical plasma membrane|integral to membrane calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1) 63 all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027) all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068) TCATGAAGACCACCAGGATGT 0.542000 7 28 0 0 1 0 0 BRDT 676 broad.mit.edu 37 1 92456771 92456771 + Missense_Mutation SNP C C T TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr1:92456771C>T ENST00000370389.2 + 13 2738 c.1814C>T c.(1813-1815)cCa>cTa p.P605L BRDT_ENST00000399546.2_Missense_Mutation_p.P678L|BRDT_ENST00000394530.3_Missense_Mutation_p.P632L|BRDT_ENST00000362005.3_Missense_Mutation_p.P678L|BRDT_ENST00000402388.1_Missense_Mutation_p.P678L NM_001242810.1 NP_001229739.1 Q58F21 BRDT_HUMAN bromodomain, testis-specific 678 R -> Q (in dbSNP:rs35327986). regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein serine/threonine kinase activity|transcription coactivator activity breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2) 56 all_lung(203;0.00531)|Lung NSC(277;0.0194) all cancers(265;0.0228)|Epithelial(280;0.133) GAAGTAAAACCAAATGATTCT 0.249000 5 5 0 0 1 0 0 MEN1 4221 broad.mit.edu 37 11 64572586 64572586 + Nonsense_Mutation SNP C C A TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr11:64572586C>A ENST00000337652.1 - 9 1788 c.1285G>T c.(1285-1287)Gag>Tag p.E429* MEN1_ENST00000377326.3_Nonsense_Mutation_p.E424*|MEN1_ENST00000315422.4_Nonsense_Mutation_p.E424*|MEN1_ENST00000377313.1_Nonsense_Mutation_p.E429*|MEN1_ENST00000377321.1_Nonsense_Mutation_p.E389*|MEN1_ENST00000394376.1_Nonsense_Mutation_p.E429*|MEN1_ENST00000312049.6_Nonsense_Mutation_p.E424*|MEN1_ENST00000394374.2_Nonsense_Mutation_p.E429*|MEN1_ENST00000377316.2_Intron|MEN1_ENST00000478548.1_5'UTR|MEN1_ENST00000443283.1_Nonsense_Mutation_p.E429* NM_130803.2 NP_570715.1 O00255 MEN1_HUMAN multiple endocrine neoplasia I 429 DNA repair|histone lysine methylation|MAPKKK cascade|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of JNK cascade|negative regulation of osteoblast differentiation|negative regulation of protein phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of telomerase activity|negative regulation of transcription from RNA polymerase II promoter|osteoblast development|positive regulation of protein binding|positive regulation of transforming growth factor beta receptor signaling pathway|response to gamma radiation|response to UV|transcription, DNA-dependent chromatin|cleavage furrow|cytosol|histone methyltransferase complex|nuclear matrix|soluble fraction double-stranded DNA binding|four-way junction DNA binding|protein binding, bridging|protein N-terminus binding|R-SMAD binding|transcription regulatory region DNA binding|Y-form DNA binding p.L414_E425del(1) NS(7)|adrenal_gland(5)|breast(2)|central_nervous_system(5)|endometrium(1)|gastrointestinal_tract_(site_indeterminate)(15)|large_intestine(2)|lung(21)|ovary(1)|pancreas(64)|parathyroid(181)|pituitary(7)|prostate(4)|retroperitoneum(1)|skin(1)|small_intestine(13)|soft_tissue(4)|stomach(1)|thymus(2) 337 CTGCCCTCCTCCCATTTGCAG 0.632000 """D, Mis, N, F, S""" """parathyroid tumors, Pancreatic neuroendocrine tumors""" """parathyroid adenoma, pituitary adenoma, pancreatic islet cell, carcinoid""" Multiple Endocrine Neoplasia, type 1;Hyperparathyroidism, Familial Isolated 16 10 9.16793e-09 9.28427e-09 1 1 0 MYO18B 84700 broad.mit.edu 37 22 26165018 26165018 + Missense_Mutation SNP C C T TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr22:26165018C>T ENST00000335473.7 + 4 1385 c.1135C>T c.(1135-1137)Cgg>Tgg p.R379W MYO18B_ENST00000407587.2_Missense_Mutation_p.R379W|MYO18B_ENST00000536101.1_Missense_Mutation_p.R379W NM_032608.5 NP_115997.5 Q8IUG5 MY18B_HUMAN myosin XVIIIB 379 R -> Q (in a lung small cell carcinoma sample; somatic mutation). nucleus|sarcomere|unconventional myosin complex actin binding|ATP binding|motor activity NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 146 AGGTGAGCTTCGGAGCACGAC 0.577000 7 13 0 0 1 0 0 LRP12 29967 broad.mit.edu 37 8 105509332 105509332 + Missense_Mutation SNP T T C TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr8:105509332T>C ENST00000276654.5 - 5 1556 c.1448A>G c.(1447-1449)gAa>gGa p.E483G LRP12_ENST00000424843.2_Missense_Mutation_p.E464G NM_013437.4 NP_038465.1 Q9Y561 LRP12_HUMAN low density lipoprotein receptor-related protein 12 483 LDL-receptor class A 5. endocytosis|regulation of growth coated pit|integral to plasma membrane low-density lipoprotein receptor activity|protein binding NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 48 OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229) TGGGCAATTTTCTTCATCGCT 0.448000 15 58 0 0 1 0 0 NAV3 89795 broad.mit.edu 37 12 78392163 78392163 + Missense_Mutation SNP G G A TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr12:78392163G>A ENST00000397909.2 + 7 960 c.787G>A c.(787-789)Gtc>Atc p.V263I NAV3_ENST00000536525.2_Missense_Mutation_p.V263I|NAV3_ENST00000228327.6_Missense_Mutation_p.V263I|NAV3_ENST00000266692.7_Missense_Mutation_p.V263I Q8IVL0 NAV3_HUMAN neuron navigator 3 263 nuclear outer membrane ATP binding|nucleoside-triphosphatase activity NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1) 236 CAGCAGCAAGGTCCAGGGAGC 0.403000 HNSCC(70;0.22) 13 27 0 0 1 0 0 ARAP3 64411 broad.mit.edu 37 5 141059843 141059843 + Silent SNP G G A TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr5:141059843G>A ENST00000239440.4 - 2 276 c.211C>T c.(211-213)Ctg>Ttg p.L71L ARAP3_ENST00000508305.1_5'UTR NM_022481.5 NP_071926.4 Q8WWN8 ARAP3_HUMAN ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3 71 cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1) 53 TTGGGATCCAGGGAGCCCTCT 0.642000 10 59 0 0 1 0 0 SERPINI1 5274 broad.mit.edu 37 3 167525048 167525048 + Missense_Mutation SNP G G A TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr3:167525048G>A ENST00000295777.5 + 6 1329 c.898G>A c.(898-900)Gaa>Aaa p.E300K SERPINI1_ENST00000488374.1_3'UTR|SERPINI1_ENST00000446050.2_Missense_Mutation_p.E300K NM_005025.4 NP_005016.1 Q99574 NEUS_HUMAN serpin peptidase inhibitor, clade I (neuroserpin), member 1 300 central nervous system development|peripheral nervous system development|regulation of proteolysis extracellular region serine-type endopeptidase inhibitor activity NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(7)|skin(2) 20 AGTGGAACAGGAAATTGATTT 0.338000 10 31 0 0 1 0 0 TBRG4 9238 broad.mit.edu 37 7 45145083 45145083 + Missense_Mutation SNP A A G TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr7:45145083A>G ENST00000258770.3 - 3 813 c.692T>C c.(691-693)gTg>gCg p.V231A TBRG4_ENST00000395655.4_Missense_Mutation_p.V231A|TBRG4_ENST00000361278.3_Missense_Mutation_p.V231A|TBRG4_ENST00000494076.1_Missense_Mutation_p.V231A NM_004749.3 NP_004740.2 Q969Z0 TBRG4_HUMAN transforming growth factor beta regulator 4 231 apoptosis|cell cycle arrest|cellular respiration|G1 phase of mitotic cell cycle|positive regulation of cell proliferation mitochondrion ATP binding|protein binding|protein kinase activity cervix(1)|endometrium(3)|large_intestine(2)|lung(8)|skin(1)|stomach(2) 17 GAGGTGTCCCACCTTCATCAT 0.572000 27 60 0 0 1 0 0 FRG1B 284802 broad.mit.edu 37 20 29628300 29628300 + Missense_Mutation SNP G G A TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr20:29628300G>A ENST00000278882.3 + 6 682 c.302G>A c.(301-303)aGt>aAt p.S101N FRG1B_ENST00000358464.4_Missense_Mutation_p.S101N|FRG1B_ENST00000439954.2_Missense_Mutation_p.S106N p.S101N(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GAAGCAAAAAGTAAAACAGCA 0.358000 5 46 0 0 1 0 0 CDH10 1008 broad.mit.edu 37 5 24511522 24511522 + Missense_Mutation SNP A A T TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr5:24511522A>T ENST00000264463.4 - 6 1423 c.916T>A c.(916-918)Tac>Aac p.Y306N NM_006727.3 NP_006718.2 Q9Y6N8 CAD10_HUMAN cadherin 10, type 2 (T2-cadherin) 306 Cadherin 3. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 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) ATAATTCGGTATTCTACTTCA 0.448000 HNSCC(23;0.051) 37 55 0 0 1 0 0 SLC35F3 148641 broad.mit.edu 37 1 234041335 234041335 + Silent SNP C C T TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr1:234041335C>T ENST00000366618.3 + 2 259 c.114C>T c.(112-114)ctC>ctT p.L38L NM_173508.2 NP_775779.1 Q8IY50 S35F3_HUMAN solute carrier family 35, member F3 0 transport integral to membrane breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|urinary_tract(1) 32 Ovarian(103;0.0454) all_cancers(173;0.145)|Prostate(94;0.0885) OV - Ovarian serous cystadenocarcinoma(106;0.00531) GCCCCCAGCTCCGGCAGCTCA 0.672000 15 58 0 0 1 0 0 CSMD2 114784 broad.mit.edu 37 1 34276407 34276407 + Silent SNP G G A TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr1:34276407G>A ENST00000373381.4 - 10 1559 c.1383C>T c.(1381-1383)ttC>ttT p.F461F CSMD2_ENST00000338325.1_Silent_p.F18F NM_052896.3 NP_443128.2 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 421 CUB 3. integral to membrane|plasma membrane protein binding NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1) 246 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) ACTGAATGGGGAAATTGGGGG 0.547000 31 47 0 0 1 0 0 ENGASE 64772 broad.mit.edu 37 17 77082220 77082220 + Missense_Mutation SNP C C T TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr17:77082220C>T ENST00000579016.1 + 14 2021 c.2021C>T c.(2020-2022)cCg>cTg p.P674L NM_001042573.2 NP_001036038.1 Q8NFI3 ENASE_HUMAN endo-beta-N-acetylglucosaminidase 674 cytosol mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity breast(2)|endometrium(4)|large_intestine(1)|lung(15)|prostate(2)|skin(1) 25 GATGACTCTCCGGGCAGGGAG 0.632000 20 37 0 0 1 0 0 SLC13A4 26266 broad.mit.edu 37 7 135390924 135390924 + Missense_Mutation SNP C C T TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr7:135390924C>T ENST00000354042.4 - 4 1179 c.490G>A c.(490-492)Gag>Aag p.E164K NM_012450.2 NP_036582.2 Q9UKG4 S13A4_HUMAN solute carrier family 13 (sodium/sulfate symporter), member 4 164 integral to plasma membrane sodium:sulfate symporter activity breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2) 24 ACGAGCTGCTCGTCCTCAGCA 0.607000 26 65 0 0 1 0 0 FAM169B 283777 broad.mit.edu 37 15 98995080 98995080 + Missense_Mutation SNP G G A TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr15:98995080G>A ENST00000558256.1 - 5 593 c.344C>T c.(343-345)tCg>tTg p.S115L FAM169B_ENST00000332908.4_Missense_Mutation_p.S115L NM_182562.2 NP_872368.2 Q8N8A8 F169B_HUMAN family with sequence similarity 169, member B 115 S -> P (in dbSNP:rs12101356). large_intestine(3)|lung(3)|urinary_tract(1) 7 AGGAGACATCGAGCAGCTAAC 0.552000 10 13 0 0 1 0 0 SLC17A8 246213 broad.mit.edu 37 12 100787170 100787170 + Missense_Mutation SNP T T C TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr12:100787170T>C ENST00000323346.5 + 4 810 c.497T>C c.(496-498)tTa>tCa p.L166S SLC17A8_ENST00000392989.3_Missense_Mutation_p.L166S NM_001145288.1|NM_139319.2 NP_001138760.1|NP_647480.1 Q8NDX2 VGLU3_HUMAN solute carrier family 17 (vesicular glutamate transporter), member 8 166 neurotransmitter transport|sensory perception of sound|sodium ion transport cell junction|integral to membrane|synaptic vesicle membrane|synaptosome L-glutamate transmembrane transporter activity|symporter activity NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 44 GCCATCTTCTTAACATCGACT 0.478000 14 23 0 0 1 0 0 DDX46 9879 broad.mit.edu 37 5 134126191 134126191 + Nonsense_Mutation SNP T T G TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr5:134126191T>G ENST00000452510.2 + 13 1733 c.1575T>G c.(1573-1575)taT>taG p.Y525* DDX46_ENST00000509178.1_3'UTR|DDX46_ENST00000354283.4_Nonsense_Mutation_p.Y525* NM_014829.2 NP_055644.2 Q7L014 DDX46_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 46 525 Helicase ATP-binding. mRNA processing|RNA splicing Cajal body|nuclear speck ATP binding|ATP-dependent helicase activity|RNA binding NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 30 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) GAGTGACATATGTTGTTTTAG 0.308000 19 21 0 0 1 0 0 FBXO24 26261 broad.mit.edu 37 7 100193315 100193315 + Missense_Mutation SNP G G A TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr7:100193315G>A ENST00000241071.6 + 8 1514 c.1192G>A c.(1192-1194)Ggg>Agg p.G398R FBXO24_ENST00000468962.1_Missense_Mutation_p.G386R|PCOLCE-AS1_ENST00000544873.1_RNA|FBXO24_ENST00000427939.2_Missense_Mutation_p.G436R|PCOLCE-AS1_ENST00000442166.2_RNA|FBXO24_ENST00000360609.2_3'UTR NM_033506.2 NP_277041.1 O75426 FBX24_HUMAN F-box protein 24 398 ubiquitin ligase complex ubiquitin-protein ligase activity NS(2)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(3)|skin(4)|urinary_tract(2) 28 Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439) AATGGACCGAGGGGAACCCAC 0.517000 11 23 0 0 1 0 0 METTL21C 196541 broad.mit.edu 37 13 103339331 103339331 + Missense_Mutation SNP C C T TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr13:103339331C>T ENST00000267273.6 - 3 364 c.359G>A c.(358-360)gGt>gAt p.G120D NM_001010977.1 NP_001010977.1 Q5VZV1 MT21C_HUMAN methyltransferase like 21C 120 methyltransferase activity breast(1)|large_intestine(3)|lung(2)|skin(1) 7 TGGTCCGGCACCAATTTCAAG 0.368000 13 17 0 0 1 0 0 MAP4K4 9448 broad.mit.edu 37 2 102314969 102314969 + Missense_Mutation SNP T T G TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr2:102314969T>G ENST00000413150.2 + 2 147 c.92T>G c.(91-93)gTt>gGt p.V31G MAP4K4_ENST00000347699.4_Missense_Mutation_p.V31G|MAP4K4_ENST00000324219.4_Missense_Mutation_p.V31G|MAP4K4_ENST00000350198.4_Missense_Mutation_p.V31G|MAP4K4_ENST00000302217.5_Missense_Mutation_p.V31G|MAP4K4_ENST00000456652.1_Missense_Mutation_p.V31G|MAP4K4_ENST00000425019.1_Missense_Mutation_p.V31G NM_001242560.1|NM_004834.4 NP_001229489.1|NP_004825.3 O95819 M4K4_HUMAN mitogen-activated protein kinase kinase kinase kinase 4 31 Protein kinase. intracellular protein kinase cascade|regulation of JNK cascade|response to stress cytoplasm ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 GTGGAAGTGGTTGGAAATGGC 0.478000 12 220 0 0 1 0 0 TAF4B 6875 broad.mit.edu 37 18 23807135 23807135 + Missense_Mutation SNP C C T TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr18:23807135C>T ENST00000269142.5 + 1 1236 c.238C>T c.(238-240)Cct>Tct p.P80S TAF4B_ENST00000578121.1_Missense_Mutation_p.P80S|TAF4B_ENST00000400466.2_Missense_Mutation_p.P80S NM_005640.1 NP_005631.1 Q92750 TAF4B_HUMAN TAF4b RNA polymerase II, TATA box binding protein (TBP)-associated factor, 105kDa 80 transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction cytoplasm|nucleolus|transcription factor TFIID complex DNA binding|NF-kappaB binding|sequence-specific DNA binding transcription factor activity breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|prostate(1)|skin(1) 29 all_cancers(21;0.00151)|Lung NSC(5;0.000401)|all_lung(6;0.00115)|Ovarian(20;0.124) Epithelial(2;9.57e-07)|all cancers(3;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(3;1.96e-05)|LUSC - Lung squamous cell carcinoma(2;0.00594)|Lung(2;0.0267) CAGCGCCCCTCCTAAAGTCAG 0.637000 45 19 0 0 1 0 0 RINL 126432 broad.mit.edu 37 19 39361343 39361343 + Silent SNP G G A TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr19:39361343G>A ENST00000340740.3 - 8 936 c.549C>T c.(547-549)gaC>gaT p.D183D RINL_ENST00000602238.1_Intron|CTC-360G5.6_ENST00000593830.1_RNA|RINL_ENST00000598904.1_Silent_p.D183D|RINL_ENST00000591812.1_Silent_p.D297D NM_001195833.1|NM_198445.3 NP_001182762.1|NP_940847.1 Q6ZS11 RINL_HUMAN Ras and Rab interactor-like 183 GTPase activator activity endometrium(3)|kidney(4)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)|urinary_tract(2) 17 CCGTGGCCGGGTCCCCAGACC 0.637000 15 17 0 0 1 0 0 SPAM1 6677 broad.mit.edu 37 7 123599542 123599542 + Missense_Mutation SNP C C A TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr7:123599542C>A ENST00000340011.5 + 5 1406 c.1049C>A c.(1048-1050)tCt>tAt p.S350Y SPAM1_ENST00000460182.1_Missense_Mutation_p.S350Y|SPAM1_ENST00000402183.2_Missense_Mutation_p.S350Y|SPAM1_ENST00000223028.7_Missense_Mutation_p.S350Y|SPAM1_ENST00000439500.1_Missense_Mutation_p.S350Y NM_003117.4 NP_003108.2 P38567 HYALP_HUMAN sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding) 350 binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane anchored to membrane|plasma membrane hyalurononglucosaminidase activity breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 Hyaluronidase(DB00070) TTACAGAAATCTTGCTTGCTC 0.338000 5 22 0.014758 0.0148698 1 1 0 RYR3 6263 broad.mit.edu 37 15 34102840 34102840 + Missense_Mutation SNP G G A TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr15:34102840G>A ENST00000389232.4 + 71 10257 c.10187G>A c.(10186-10188)cGa>cAa p.R3396Q RYR3_ENST00000415757.3_Missense_Mutation_p.R3391Q NM_001036.3 NP_001027.3 Q15413 RYR3_HUMAN ryanodine receptor 3 3396 cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3) 311 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) GCAAAATCGCGATACAGCCAT 0.547000 10 17 0 0 1 0 0 KDM2B 84678 broad.mit.edu 37 12 121932414 121932414 + Missense_Mutation SNP G G A TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr12:121932414G>A ENST00000377069.4 - 12 2015 c.1609C>T c.(1609-1611)Cct>Tct p.P537S KDM2B_ENST00000538046.2_Missense_Mutation_p.P478S|KDM2B_ENST00000542973.1_5'UTR|KDM2B_ENST00000536437.1_Missense_Mutation_p.P451S|KDM2B_ENST00000377071.4_Missense_Mutation_p.P568S NM_001005366.1 NP_001005366.1 Q8NHM5 KDM2B_HUMAN lysine (K)-specific demethylase 2B 568 embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent nucleolus DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 19 GTCACCACAGGGACCCCAGTG 0.592000 OREG0022202 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 7 0 0 1 0 0 RASGRP4 115727 broad.mit.edu 37 19 38910609 38910609 + Missense_Mutation SNP G G A TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr19:38910609G>A ENST00000454404.2 - 6 767 c.554C>T c.(553-555)cCa>cTa p.P185L RASGRP4_ENST00000587753.1_Missense_Mutation_p.P185L|RASGRP4_ENST00000587738.1_Missense_Mutation_p.P185L|RASGRP4_ENST00000426920.2_Missense_Mutation_p.P185L|RASGRP4_ENST00000586305.1_Missense_Mutation_p.P171L|RASGRP4_ENST00000433821.2_Missense_Mutation_p.P185L|RASGRP4_ENST00000293062.9_Missense_Mutation_p.P185L NM_001146205.1|NM_170604.2 NP_001139677.1|NP_733749.1 Q8TDF6 GRP4_HUMAN RAS guanyl releasing protein 4 185 activation of phospholipase C activity|cell growth|cell proliferation|myeloid cell differentiation|positive regulation of Ras protein signal transduction|regulation of G-protein coupled receptor protein signaling pathway|response to extracellular stimulus|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway cytoplasm|membrane fraction|plasma membrane|soluble fraction diacylglycerol binding|GTP-dependent protein binding|metal ion binding|Ras guanyl-nucleotide exchange factor activity cervix(1)|kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|prostate(3)|skin(1) 23 all_cancers(60;4.21e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) GCCCAGGCCTGGGCTGCTCAT 0.632000 8 20 0 0 1 0 0 OR6C65 403282 broad.mit.edu 37 12 55794908 55794908 + Missense_Mutation SNP T T C TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr12:55794908T>C ENST00000379665.2 + 1 695 c.596T>C c.(595-597)tTg>tCg p.L199S NM_001005518.1 NP_001005518.1 A6NJZ3 O6C65_HUMAN olfactory receptor, family 6, subfamily C, member 65 199 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(2)|large_intestine(3)|lung(9) 15 ATGGCATTTTTGCTAGCAGTA 0.438000 59 86 0 0 1 0 0 KCND3 3752 broad.mit.edu 37 1 112318761 112318761 + Missense_Mutation SNP G G T TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr1:112318761G>T ENST00000369697.1 - 6 1918 c.1849C>A c.(1849-1851)Cca>Aca p.P617T KCND3_ENST00000315987.2_Missense_Mutation_p.P636T|KCND3_ENST00000302127.4_Missense_Mutation_p.P617T Q9UK17 KCND3_HUMAN potassium voltage-gated channel, Shal-related subfamily, member 3 636 sarcolemma|voltage-gated potassium channel complex A-type (transient outward) potassium channel activity|metal ion binding NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 49 all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05) all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231) TTGGGGCCTGGGCTGGCAGGG 0.577000 24 50 6.32553e-13 6.50486e-13 1 1 0 SNCAIP 9627 broad.mit.edu 37 5 121761086 121761086 + Missense_Mutation SNP G G A TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr5:121761086G>A ENST00000261367.7 + 7 2611 c.1183G>A c.(1183-1185)Gaa>Aaa p.E395K SNCAIP_ENST00000504884.2_Missense_Mutation_p.R57Q|SNCAIP_ENST00000503116.2_Missense_Mutation_p.E395K|SNCAIP_ENST00000261368.8_Missense_Mutation_p.E348K|SNCAIP_ENST00000414317.2_Intron|SNCAIP_ENST00000379533.2_Missense_Mutation_p.E395K|SNCAIP_ENST00000542191.1_Intron|SNCAIP_ENST00000379538.3_Intron|SNCAIP_ENST00000379536.2_Intron Q9Y6H5 SNCAP_HUMAN synuclein, alpha interacting protein 348 cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion cytoplasm|neuronal cell body|nucleolus|presynaptic membrane ubiquitin protein ligase binding NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1) 39 all_cancers(142;0.00787)|Prostate(80;0.0327) KIRC - Kidney renal clear cell carcinoma(527;0.206) OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232) AATTCACGACGAAAATGGAAA 0.438000 32 53 0 0 1 0 0 OR2J2 26707 broad.mit.edu 37 6 29142232 29142232 + Missense_Mutation SNP T T C TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr6:29142232T>C ENST00000377167.2 + 1 922 c.820T>C c.(820-822)Ttc>Ctc p.F274L NM_030905.2 NP_112167.2 O76002 OR2J2_HUMAN olfactory receptor, family 2, subfamily J, member 2 274 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(17)|ovary(1)|upper_aerodigestive_tract(1) 25 TCAGGGCAAGTTCATTGCCCT 0.438000 38 119 0 0 1 0 0 PCP4 5121 broad.mit.edu 37 21 41301012 41301012 + Silent SNP G G A TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr21:41301012G>A ENST00000328619.5 + 3 350 c.165G>A c.(163-165)aaG>aaA p.K55K PCP4_ENST00000468717.1_3'UTR NM_006198.2 NP_006189.2 P48539 PCP4_HUMAN Purkinje cell protein 4 55 IQ. central nervous system development cytosol|nucleus large_intestine(2)|lung(1)|skin(1) 4 Prostate(19;2.65e-06)|all_epithelial(19;0.138) AATTCCAGAAGAAGAAGGCTG 0.448000 14 21 0 0 1 0 0 KCNQ3 3786 broad.mit.edu 37 8 133141843 133141843 + Missense_Mutation SNP G G A TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr8:133141843G>A ENST00000388996.4 - 15 2705 c.2285C>T c.(2284-2286)tCc>tTc p.S762F KCNQ3_ENST00000519445.1_Missense_Mutation_p.S750F|KCNQ3_ENST00000521134.1_Missense_Mutation_p.S642F NM_004519.3 NP_004510.1 O43525 KCNQ3_HUMAN potassium voltage-gated channel, KQT-like subfamily, member 3 762 axon guidance|synaptic transmission voltage-gated potassium channel complex voltage-gated potassium channel activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 70 Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000311) GTCAGCCTGGGAGTGGCAGCT 0.602000 23 23 0 0 1 0 0 HILPDA 29923 broad.mit.edu 37 7 128097400 128097400 + Silent SNP C C T TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr7:128097400C>T ENST00000257696.4 + 2 279 c.78C>T c.(76-78)tcC>tcT p.S26S HILPDA_ENST00000481454.1_Intron|RP11-155G14.5_ENST00000493710.1_RNA|HILPDA_ENST00000435296.2_Silent_p.S26S NM_001098786.1|NM_013332.3 NP_001092256.1|NP_037464.1 Q9Y5L2 HIG2_HUMAN hypoxia inducible lipid droplet-associated 26 autocrine signaling|positive regulation of cell proliferation|response to stress cell surface|extracellular space|integral to membrane|stored secretory granule receptor binding TGATGGAGTCCCTAGAGGGCT 0.542000 19 58 0 0 1 0 0 UGT3A2 167127 broad.mit.edu 37 5 36039616 36039616 + Silent SNP C C T TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr5:36039616C>T ENST00000282507.3 - 5 1139 c.1038G>A c.(1036-1038)gtG>gtA p.V346V UGT3A2_ENST00000545528.1_Silent_p.V44V|UGT3A2_ENST00000513300.1_Silent_p.V312V NM_174914.3 NP_777574.2 Q3SY77 UD3A2_HUMAN UDP glycosyltransferase 3 family, polypeptide A2 346 integral to membrane glucuronosyltransferase activity NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3) 43 all_lung(31;0.000179) Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) CCACAATTTTCACATTTGCAG 0.532000 17 47 0 0 1 0 0 ABCC8 6833 broad.mit.edu 37 11 17414565 17414565 + Silent SNP G G A TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr11:17414565G>A ENST00000302539.4 - 39 4847 c.4722C>T c.(4720-4722)ttC>ttT p.F1574F ABCC8_ENST00000389817.3_Silent_p.F1573F NM_000352.3 NP_000343.2 Q09428 ABCC8_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 8 1573 ABC transporter 2. carbohydrate metabolic process|energy reserve metabolic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 67 READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1) Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912) CGAAGGAGGCGAAGACGCTGT 0.572000 19 38 0 0 1 0 0 LINC00957 255031 broad.mit.edu 37 7 44080541 44080541 + RNA SNP G G A rs3099751 TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr7:44080541G>A ENST00000441052.1 + 0 1226 CTGCCGCTGCGCCCCGCACCC 0.617000 4 34 0 0 1 0 0 MARCO 8685 broad.mit.edu 37 2 119739007 119739007 + Missense_Mutation SNP G G A TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr2:119739007G>A ENST00000541757.1 + 10 935 c.555G>A c.(553-555)atG>atA p.M185I MARCO_ENST00000327097.4_Missense_Mutation_p.M263I Q9UEW3 MARCO_HUMAN macrophage receptor with collagenous structure 263 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 ACAGGGGCATGAAAGGAGATG 0.567000 9 11 0 0 1 0 0 COG5 10466 broad.mit.edu 37 7 107013044 107013044 + Silent SNP C C T TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr7:107013044C>T ENST00000393603.2 - 8 1195 c.924G>A c.(922-924)gtG>gtA p.V308V COG5_ENST00000347053.3_Silent_p.V308V|COG5_ENST00000475638.2_5'UTR|COG5_ENST00000297135.3_Silent_p.V308V NM_001161520.1 NP_001154992.1 Q9UP83 COG5_HUMAN component of oligomeric golgi complex 5 308 intra-Golgi vesicle-mediated transport|protein transport cytosol|Golgi membrane|Golgi transport complex|nucleus protein binding breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|skin(4)|stomach(1) 40 CCATACCTCTCACAGCTGACT 0.333000 12 29 0 0 1 0 0 ZNF366 167465 broad.mit.edu 37 5 71756137 71756137 + Missense_Mutation SNP G G A TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr5:71756137G>A ENST00000318442.5 - 2 1677 c.1187C>T c.(1186-1188)tCc>tTc p.S396F NM_152625.1 NP_689838.1 Q8N895 ZN366_HUMAN zinc finger protein 366 396 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 35 Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155) OV - Ovarian serous cystadenocarcinoma(47;2.51e-53) GTCGCACTCGGAGCAGTTGTA 0.602000 10 12 0 0 1 0 0 CHD1 1105 broad.mit.edu 37 5 98208136 98208136 + Missense_Mutation SNP G G A TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr5:98208136G>A ENST00000284049.3 - 26 3844 c.3695C>T c.(3694-3696)cCa>cTa p.P1232L NM_001270.2 NP_001261.2 O14646 CHD1_HUMAN chromodomain helicase DNA binding protein 1 1232 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) TCTTTCTTCTGGATCAGAAGG 0.348000 14 23 0 0 1 0 0 USP36 57602 broad.mit.edu 37 17 76823355 76823355 + Nonsense_Mutation SNP G G A TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr17:76823355G>A ENST00000312010.6 - 6 985 c.661C>T c.(661-663)Cag>Tag p.Q221* USP36_ENST00000589424.1_Nonsense_Mutation_p.Q221*|USP36_ENST00000590546.2_Nonsense_Mutation_p.Q221*|USP36_ENST00000542802.2_Nonsense_Mutation_p.Q221* NM_025090.3 NP_079366.3 Q9P275 UBP36_HUMAN ubiquitin specific peptidase 36 221 ubiquitin-dependent protein catabolic process nucleolus cysteine-type peptidase activity|ubiquitin thiolesterase activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 34 BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151) CAGGCTTTCTGCATGGCGTCG 0.567000 7 14 0 0 1 0 0 TUBB4A 10382 broad.mit.edu 37 19 6496064 6496064 + Missense_Mutation SNP G G A TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr19:6496064G>A ENST00000264071.2 - 4 817 c.446C>T c.(445-447)aCg>aTg p.T149M TUBB4A_ENST00000601152.1_3'UTR|TUBB4A_ENST00000598006.1_3'UTR|TUBB4A_ENST00000540257.1_Missense_Mutation_p.T149M P04350 TBB4_HUMAN tubulin, beta 4A class IVa 149 'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization cytosol|microtubule GTP binding|GTPase activity|protein binding|structural molecule activity p.T149M(1) GATGAGCAGCGTGCCCATTCC 0.642000 28 47 0 0 1 0 0 ABCA7 10347 broad.mit.edu 37 19 1058821 1058821 + Missense_Mutation SNP C C A TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr19:1058821C>A ENST00000263094.6 + 39 5513 c.5282C>A c.(5281-5283)cCc>cAc p.P1761H ABCA7_ENST00000433129.1_Missense_Mutation_p.P1761H|ABCA7_ENST00000435683.2_Missense_Mutation_p.P1623H NM_019112.3 NP_061985.2 Q8IZY2 ABCA7_HUMAN ATP-binding cassette, sub-family A (ABC1), member 7 1761 phagocytosis|transmembrane transport ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane ATP binding|ATPase activity|transporter activity NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 65 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GTCCCCAGGCCCAGGGTGAGG 0.612000 16 32 6.72482e-11 6.88001e-11 1 1 0 LRRC42 115353 broad.mit.edu 37 1 54417912 54417912 + Silent SNP G G A TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr1:54417912G>A ENST00000371370.3 + 3 761 c.240G>A c.(238-240)ggG>ggA p.G80G LRRC42_ENST00000319223.4_Silent_p.G80G NM_001256409.1 NP_001243338.1 Q9Y546 LRC42_HUMAN leucine rich repeat containing 42 80 breast(2)|kidney(1)|large_intestine(1)|lung(5) 9 CCCGAGAGGGGAATCTTCGGT 0.488000 27 48 0 0 1 0 0 DSC2 1824 broad.mit.edu 37 18 28672213 28672213 + Missense_Mutation SNP G G A TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr18:28672213G>A ENST00000280904.6 - 3 648 c.205C>T c.(205-207)Cct>Tct p.P69S DSC2_ENST00000251081.6_Missense_Mutation_p.P69S NM_024422.3 NP_077740.1 Q02487 DSC2_HUMAN desmocollin 2 69 homophilic cell adhesion desmosome|integral to membrane calcium ion binding endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1) 21 OV - Ovarian serous cystadenocarcinoma(10;0.0241) TGGAAGTCAGGATCACTTGAA 0.333000 20 13 0 0 1 0 0 KCNK13 56659 broad.mit.edu 37 14 90650488 90650488 + Missense_Mutation SNP G G A TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr14:90650488G>A ENST00000282146.4 + 2 809 c.368G>A c.(367-369)gGa>gAa p.G123E NM_022054.2 NP_071337.2 Q9HB14 KCNKD_HUMAN potassium channel, subfamily K, member 13 123 integral to membrane potassium channel activity|voltage-gated ion channel activity haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(12)|prostate(1)|skin(4) 25 all_cancers(154;0.186) ACAGTAGGAGGAAAAATCTTT 0.483000 16 42 0 0 1 0 0 HECW1 23072 broad.mit.edu 37 7 43495939 43495939 + Silent SNP G G A TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr7:43495939G>A ENST00000395891.1 + 13 3149 c.2544G>A c.(2542-2544)gtG>gtA p.V848V HECW1_ENST00000453890.1_Silent_p.V814V NM_015052.3 NP_055867.3 Q76N89 HECW1_HUMAN HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 848 WW 1. 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 TCTTTTATGTGGACCACGTGA 0.542000 21 26 0 0 1 0 0 PIK3R6 146850 broad.mit.edu 37 17 8726743 8726743 + Missense_Mutation SNP C C T TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr17:8726743C>T ENST00000311434.9 - 14 1826 c.1587G>A c.(1585-1587)atG>atA p.M529I PIK3R6_ENST00000434064.2_5'UTR NM_001010855.2 NP_001010855.1 Q5UE93 PI3R6_HUMAN phosphoinositide-3-kinase, regulatory subunit 6 529 platelet activation cytosol GTTGGGTGCCCATGCGGATGT 0.552000 9 15 0 0 1 0 0 OR5J2 282775 broad.mit.edu 37 11 55944192 55944192 + Silent SNP G G A TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr11:55944192G>A ENST00000312298.1 + 1 99 c.99G>A c.(97-99)gtG>gtA p.V33V NM_001005492.1 NP_001005492.1 Q8NH18 OR5J2_HUMAN olfactory receptor, family 5, subfamily J, member 2 33 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1) 44 Esophageal squamous(21;0.00693) TGTTCCTGGTGATTTACGCCA 0.398000 45 87 0 0 1 0 0 ZNF586 54807 broad.mit.edu 37 19 58290772 58290772 + Nonsense_Mutation SNP C C T TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr19:58290772C>T ENST00000391702.3 + 4 1055 c.688C>T c.(688-690)Cga>Tga p.R230* ZNF586_ENST00000396150.4_3'UTR|ZNF586_ENST00000396154.2_Nonsense_Mutation_p.R273*|ZNF586_ENST00000599802.1_Intron|ZNF586_ENST00000598885.1_Intron|ZNF586_ENST00000598183.1_Intron NM_001204814.1 NP_001191743.1 Q9NXT0 ZN586_HUMAN zinc finger protein 586 273 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(2)|prostate(1) 15 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) ATCATTTCGCCGAAGCTCTTC 0.428000 14 22 0 0 1 0 0 NEB 4703 broad.mit.edu 37 2 152534436 152534436 + Missense_Mutation SNP G G A TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr2:152534436G>A ENST00000427231.2 - 33 3723 c.3521C>T c.(3520-3522)gCc>gTc p.A1174V NEB_ENST00000397345.3_Missense_Mutation_p.A1174V|NEB_ENST00000603639.1_Missense_Mutation_p.A1174V|NEB_ENST00000172853.10_Missense_Mutation_p.A1174V|NEB_ENST00000604864.1_Missense_Mutation_p.A1174V|NEB_ENST00000409198.1_Missense_Mutation_p.A1174V NM_001164507.1 NP_001157979.1 P20929 NEBU_HUMAN nebulin 1174 muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development actin cytoskeleton|cytosol|Z disc actin binding|structural constituent of muscle NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2) 301 BRCA - Breast invasive adenocarcinoma(221;0.219) CAGGTCCATGGCGTCAGGCAA 0.453000 11 20 0 0 1 0 0 KRTAP5-5 439915 broad.mit.edu 37 11 1651304 1651304 + Silent SNP T T C TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr11:1651304T>C ENST00000399676.2 + 1 272 c.234T>C c.(232-234)gcT>gcC p.A78A NM_001001480.2 NP_001001480.2 Q701N2 KRA55_HUMAN keratin associated protein 5-5 78 8 X 4 AA repeats of C-C-X-P. keratin filament endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|urinary_tract(1) 33 all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082) GTGTGCCAGCTTGTTCCTGCT 0.667000 5 213 0 0 1 0 0 JAG1 182 broad.mit.edu 37 20 10624442 10624442 + Silent SNP C C T TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr20:10624442C>T ENST00000254958.5 - 20 2957 c.2442G>A c.(2440-2442)ggG>ggA p.G814G JAG1_ENST00000423891.2_Silent_p.G655G NM_000214.2 NP_000205.1 P78504 JAG1_HUMAN jagged 1 814 EGF-like 15; calcium-binding (Potential). angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation extracellular region|integral to plasma membrane calcium ion binding|growth factor activity|Notch binding|structural molecule activity biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1) 44 TGCAGTCGGGCCCAGCAAAAC 0.498000 Alagille Syndrome 4 21 0 0 1 0 0 TBX18 9096 broad.mit.edu 37 6 85448270 85448270 + Nonsense_Mutation SNP C C T TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr6:85448270C>T ENST00000369663.5 - 7 1381 c.1044G>A c.(1042-1044)tgG>tgA p.W348* TBX18_ENST00000606784.1_Nonsense_Mutation_p.W190* NM_001080508.1 NP_001073977.1 O95935 TBX18_HUMAN T-box 18 348 multicellular organismal development nucleus DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|liver(1)|lung(31)|ovary(2)|pancreas(3)|prostate(6)|skin(3) 61 all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858) BRCA - Breast invasive adenocarcinoma(108;0.0267) GTGATGGTCGCCAGAATGCAT 0.468000 41 29 0 0 1 0 0 CRY2 1408 broad.mit.edu 37 11 45880325 45880325 + Missense_Mutation SNP C C T TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr11:45880325C>T ENST00000443527.2 + 3 453 c.431C>T c.(430-432)cCc>cTc p.P144L CRY2_ENST00000417225.2_Missense_Mutation_p.P62L|CRY2_ENST00000473199.1_3'UTR NM_021117.3 NP_066940.2 Q49AN0 CRY2_HUMAN cryptochrome 2 (photolyase-like) 123 DNA photolyase. DNA repair|protein-chromophore linkage|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus blue light photoreceptor activity|damaged DNA binding|DNA photolyase activity|nucleotide binding|protein binding|single-stranded DNA binding NS(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(2) 15 GACTCTGAACCCTTTGGGAAA 0.527000 11 15 0 0 1 0 0 ADAP1 11033 broad.mit.edu 37 7 975067 975067 + Frame_Shift_Del DEL G G - TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr7:975067delG ENST00000265846.5 - 2 376 c.157delC c.(157-159)agfs p.Q53fs ADAP1_ENST00000463358.1_5'UTR|ADAP1_ENST00000539900.1_Frame_Shift_Del_p.Q64fs NM_006869.2 NP_006860.1 O75689 ADAP1_HUMAN ArfGAP with dual PH domains 1 53 Arf-GAP. cell surface receptor linked signaling pathway|regulation of ARF GTPase activity cytoplasm|nucleus|plasma membrane ARF GTPase activator activity|inositol 1,3,4,5 tetrakisphosphate binding|protein binding|zinc ion binding endometrium(1)|kidney(1)|lung(3)|upper_aerodigestive_tract(1) 6 TTGCTGACCTGGGGGATATTC 0.672 2 4 --- --- --- --- FER1L6 654463 broad.mit.edu 37 8 125058038 125058044 + Frame_Shift_Del DEL AACCAGA AACCAGA - TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr8:125058038_125058044delAACCAGA ENST00000522917.1 + 21 2826_2832 c.2620_2626delAACCAGA c.(2620-2628)tgfs p.NQM874fs FER1L6_ENST00000399018.1_Frame_Shift_Del_p.NQM874fs NM_001039112.2 NP_001034201.2 Q2WGJ9 FR1L6_HUMAN fer-1-like 6 (C. elegans) 874 C2 3. integral to membrane 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) TCCGACCTGGAACCAGATGCTGCTGTT 0.502 46 173 --- --- --- --- CTD-2313N18.8 0 broad.mit.edu 37 11 71574635 71574635 + RNA DEL A A - TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr11:71574635delA ENST00000528518.1 + 0 168 GTAATGAAGGAAAAAAATGTA 0.428 8 2632 --- --- --- --- SOS2 6655 broad.mit.edu 37 14 50616844 50616850 + Frame_Shift_Del DEL GTGGACT GTGGACT - TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr14:50616844_50616850delGTGGACT ENST00000216373.5 - 14 2534_2540 c.2260_2266delAGTCCAC c.(2260-2268)ctfs p.SPP754fs SOS2_ENST00000543680.1_Frame_Shift_Del_p.SPP721fs NM_006939.2 NP_008870.2 Q07890 SOS2_HUMAN son of sevenless homolog 2 (Drosophila) 754 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|protein binding|Rho guanyl-nucleotide exchange factor activity 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) ATTGGTGGAGGTGGACTTTCAAAGGTA 0.406 28 83 --- --- --- --- SV2B 9899 broad.mit.edu 37 15 91811796 91811796 + Frame_Shift_Del DEL A A - TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr15:91811796delA ENST00000394232.1 + 9 1804 c.1334delA c.(1333-1335)gafs p.E445fs SV2B_ENST00000330276.4_Frame_Shift_Del_p.E445fs|SV2B_ENST00000545111.2_Frame_Shift_Del_p.E294fs NM_014848.4 NP_055663.1 Q7L1I2 SV2B_HUMAN synaptic vesicle glycoprotein 2B 445 neurotransmitter transport acrosomal vesicle|cell junction|integral to membrane|synaptic vesicle membrane transmembrane transporter activity NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(17)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 42 Lung NSC(78;0.0987)|all_lung(78;0.172) BRCA - Breast invasive adenocarcinoma(143;0.0895) TTCACGATGGAAAATCAGATC 0.438 34 50 --- --- --- --- AMZ2 51321 broad.mit.edu 37 17 66247278 66247290 + Frame_Shift_Del DEL ACTCGTGGAATTT ACTCGTGGAATTT - TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx B895DB4B-04BD-45CF-9EA9-7800AC4EE769 5B08C1B2-9D52-4720-933A-FE3C924AB781 g.chr17:66247278_66247290delACTCGTGGAATTT ENST00000359904.3 + 4 1677_1689 c.545_557delACTCGTGGAATTT c.(544-558)gtfs p.DSWNF182fs AMZ2_ENST00000577866.1_Frame_Shift_Del_p.DSWNF182fs|AMZ2_ENST00000359783.4_Frame_Shift_Del_p.DSWNF124fs|AMZ2_ENST00000577985.1_Frame_Shift_Del_p.DSWNF182fs|AMZ2_ENST00000585050.1_3'UTR|AMZ2_ENST00000577273.1_Frame_Shift_Del_p.DSWNF182fs|AMZ2_ENST00000392720.2_Frame_Shift_Del_p.DSWNF182fs|AMZ2_ENST00000580753.1_Frame_Shift_Del_p.DSWNF182fs NM_016627.4 NP_057711.3 Q86W34 AMZ2_HUMAN archaelysin family metallopeptidase 2 182 metallopeptidase activity|zinc ion binding breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3) 9 all_cancers(12;1.12e-09) BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24) TACCCAAGAGACTCGTGGAATTTTGTCTTTGGA 0.385 13 69 --- --- --- ---