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 SNED1 25992 broad.mit.edu 37 2 242002212 242002212 + Silent SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr2:242002212C>T ENST00000310397.8 + 17 2262 c.2262C>T c.(2260-2262)atC>atT p.I754I SNED1_ENST00000401884.1_Silent_p.I754I|SNED1_ENST00000342631.6_Silent_p.I754I|AC005237.4_ENST00000458377.1_RNA|SNED1_ENST00000405547.3_Silent_p.I754I NM_001080437.1 NP_001073906.1 Q8TER0 SNED1_HUMAN sushi, nidogen and EGF-like domains 1 754 EGF-like 11; calcium-binding (Potential). cell-matrix adhesion extracellular region calcium ion binding NS(1)|breast(1)|central_nervous_system(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1) 24 all_cancers(19;7.48e-31)|all_epithelial(40;1.35e-12)|Breast(86;0.000148)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238) Epithelial(32;6.46e-32)|all cancers(36;6.23e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.1e-14)|Kidney(56;6.35e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;3.66e-06)|Lung(119;0.00072)|LUSC - Lung squamous cell carcinoma(224;0.00553)|Colorectal(34;0.0162)|COAD - Colon adenocarcinoma(134;0.109) TCTCAGAAATCGATGAGTGCC 0.547000 11 7 0 0 0.010729 0 0 OR5H15 403274 broad.mit.edu 37 3 97887907 97887907 + Missense_Mutation SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr3:97887907C>T ENST00000356526.2 + 1 364 c.364C>T c.(364-366)Cgc>Tgc p.R122C NM_001005515.1 NP_001005515.1 A6NDH6 O5H15_HUMAN olfactory receptor, family 5, subfamily H, member 15 122 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(2)|stomach(1) 35 GGCATATGATCGCTATGTAGC 0.378000 40 56 0 0 0.009718 0 0 OR5R1 219479 broad.mit.edu 37 11 56184842 56184842 + Silent SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr11:56184842G>A ENST00000312253.1 - 1 866 c.867C>T c.(865-867)atC>atT p.I289I NM_001004744.1 NP_001004744.1 Q8NH85 OR5R1_HUMAN olfactory receptor, family 5, subfamily R, member 1 289 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(17)|ovary(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1) 37 Esophageal squamous(21;0.00448) TTAGACTATAGATTAGGGGGT 0.358000 32 51 0 0 0.004289 0 0 LRRC49 54839 broad.mit.edu 37 15 71256138 71256138 + Missense_Mutation SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr15:71256138C>T ENST00000260382.5 + 9 1048 c.788C>T c.(787-789)tCc>tTc p.S263F LRRC49_ENST00000544974.2_Missense_Mutation_p.S253F|LRRC49_ENST00000443425.2_Missense_Mutation_p.S219F|LRRC49_ENST00000560369.1_Missense_Mutation_p.S268F|LRRC49_ENST00000560158.2_Intron|LRRC49_ENST00000560691.1_5'UTR|LRRC49_ENST00000436542.2_3'UTR NM_001199017.1|NM_017691.3 NP_001185946.1|NP_060161.2 Q8IUZ0 LRC49_HUMAN leucine rich repeat containing 49 263 cytoplasm|microtubule breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(3)|skin(3) 34 GACAGTGTTTCCTGCCTTGCT 0.403000 97 107 0 0 0.014410 0 0 RP1L1 94137 broad.mit.edu 37 8 10469091 10469091 + Silent SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr8:10469091C>T ENST00000382483.3 - 4 2740 c.2517G>A c.(2515-2517)cgG>cgA p.R839R NM_178857.5 NP_849188.4 A6NKC6 A6NKC6_HUMAN retinitis pigmentosa 1-like 1 839 intracellular signal transduction breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3) 148 COAD - Colon adenocarcinoma(149;0.0811) GGGAGGGTCCCCGCTGGGCCT 0.716000 11 11 0 0 0.010729 0 0 ALOXE3 59344 broad.mit.edu 37 17 8006749 8006749 + Silent SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr17:8006749G>A ENST00000380149.1 - 14 2346 c.2316C>T c.(2314-2316)acC>acT p.T772T ALOXE3_ENST00000318227.3_Silent_p.T748T|ALOXE3_ENST00000448843.2_Silent_p.T616T Q9BYJ1 LOXE3_HUMAN arachidonate lipoxygenase 3 616 leukotriene biosynthetic process iron ion binding|lipoxygenase activity breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4) 31 TGGTCCCCTTGGTCTGGGGTG 0.572000 41 36 0 0 0.006999 0 0 CSRP2BP 57325 broad.mit.edu 37 20 18142540 18142540 + Missense_Mutation SNP A A T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr20:18142540A>T ENST00000278816.2 + 6 1409 c.759A>T c.(757-759)gaA>gaT p.E253D CSRP2BP_ENST00000435364.2_Missense_Mutation_p.E253D|CSRP2BP_ENST00000489634.2_Missense_Mutation_p.E125D|CSRP2BP_ENST00000377681.2_Missense_Mutation_p.E252D Q9H8E8 CSR2B_HUMAN CSRP2 binding protein 253 histone H3 acetylation Ada2/Gcn5/Ada3 transcription activator complex|cytoplasm LIM domain binding|N-acetyltransferase activity NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|stomach(1) 34 ATCCTGTGGAATCTGCCATGG 0.443000 49 77 0 0 0.014410 0 0 HECTD1 25831 broad.mit.edu 37 14 31626487 31626487 + Nonsense_Mutation SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr14:31626487G>A ENST00000399332.1 - 11 2133 c.1645C>T c.(1645-1647)Cga>Tga p.R549* HECTD1_ENST00000553700.1_Nonsense_Mutation_p.R549* NM_015382.2 NP_056197.2 Q9ULT8 HECD1_HUMAN HECT domain containing E3 ubiquitin protein ligase 1 549 protein ubiquitination involved in ubiquitin-dependent protein catabolic process intracellular metal ion binding|protein binding|ubiquitin-protein ligase activity breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 70 Hepatocellular(127;0.0877)|Breast(36;0.176) LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173) GBM - Glioblastoma multiforme(265;0.00617) ATCATTTTTCGAATTAGAGCA 0.308000 27 38 0 0 0.004656 0 0 SORL1 6653 broad.mit.edu 37 11 121393634 121393634 + Missense_Mutation SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr11:121393634G>A ENST00000260197.7 + 11 1661 c.1532G>A c.(1531-1533)gGa>gAa p.G511E SORL1_ENST00000532451.1_3'UTR NM_003105.5 NP_003096.1 Q92673 SORL_HUMAN sortilin-related receptor, L(DLR class) A repeats containing 511 cholesterol metabolic process|lipid transport|receptor-mediated endocytosis integral to plasma membrane|low-density lipoprotein particle low-density lipoprotein particle binding|transmembrane receptor activity p.G511E(1) NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2) 91 Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113) BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108) GGCTCAGTGGGAAAGAACTTG 0.473000 24 39 0 0 0.005443 0 0 SLC9A7P1 121456 broad.mit.edu 37 12 98849624 98849624 + RNA SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr12:98849624G>A ENST00000554295.1 - 0 1299 NR_033801.1 AAGGTAAATAGCGCCAGGATC 0.483000 14 37 0 0 0.001855 0 0 FBXL4 26235 broad.mit.edu 37 6 99374370 99374370 + Silent SNP A A G TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr6:99374370A>G ENST00000369244.2 - 4 923 c.495T>C c.(493-495)aaT>aaC p.N165N FBXL4_ENST00000229971.1_Silent_p.N165N Q9UKA2 FBXL4_HUMAN F-box and leucine-rich repeat protein 4 165 ubiquitin-dependent protein catabolic process cytoplasm|nucleus|ubiquitin ligase complex central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(4)|prostate(3)|skin(2) 18 all_cancers(76;1.56e-06)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00893)|Colorectal(196;0.069)|Lung NSC(302;0.197) BRCA - Breast invasive adenocarcinoma(108;0.0413) CAGCTGGTGGATTTGGGGAAT 0.368000 19 40 0 0 0.002780 0 0 ZC3H3 23144 broad.mit.edu 37 8 144620785 144620785 + Missense_Mutation SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr8:144620785G>A ENST00000262577.5 - 2 783 c.752C>T c.(751-753)tCc>tTc p.S251F NM_015117.2 NP_055932.2 Q8IXZ2 ZC3H3_HUMAN zinc finger CCCH-type containing 3 251 mRNA polyadenylation|poly(A)+ mRNA export from nucleus|regulation of mRNA export from nucleus nucleus nucleic acid binding|zinc ion binding breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 23 all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155) Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107) GCTGGCCACGGAATGAGAACC 0.642000 20 38 0 0 0.007413 0 0 CPS1 1373 broad.mit.edu 37 2 211457632 211457632 + Silent SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr2:211457632C>T ENST00000233072.5 + 11 1312 c.1116C>T c.(1114-1116)ttC>ttT p.F372F CPS1_ENST00000430249.2_Silent_p.F378F NM_001875.4 NP_001866.2 P31327 CPSM_HUMAN carbamoyl-phosphate synthase 1, mitochondrial 372 Glutamine amidotransferase type-1. carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle mitochondrial nucleoid ATP binding|carbamoyl-phosphate synthase (ammonia) activity breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 142 Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843) AACCCTTCTTCGCTGTGCAGT 0.408000 56 71 0 0 0.014410 0 0 OTOL1 131149 broad.mit.edu 37 3 161214600 161214600 + Nonsense_Mutation SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr3:161214600G>A ENST00000327928.4 + 1 5 c.5G>A c.(4-6)tGg>tAg p.W2* NM_001080440.1 NP_001073909.1 A6NHN0 OTOL1_HUMAN otolin 1 2 collagen central_nervous_system(2)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1) 27 TCAAATATGTGGATGTTTTCT 0.299000 7 6 0 0 0.001984 0 0 CXorf66 347487 broad.mit.edu 37 X 139038683 139038683 + Missense_Mutation SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chrX:139038683C>T ENST00000370540.1 - 3 481 c.458G>A c.(457-459)gGa>gAa p.G153E NM_001013403.2 NP_001013421.1 Q5JRM2 CX066_HUMAN chromosome X open reading frame 66 153 Ser-rich. integral to membrane breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|skin(1)|stomach(1) 26 AGTTAACTTTCCTGCACTGTT 0.418000 115 12 0 0 0.014410 0 0 SLFN12L 100506736 broad.mit.edu 37 17 33806595 33806595 + Missense_Mutation SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr17:33806595C>T ENST00000260908.7 - 2 751 c.634G>A c.(634-636)Gaa>Aaa p.E212K SLFN12L_ENST00000449046.1_Missense_Mutation_p.E243K|SLFN12L_ENST00000361112.4_Missense_Mutation_p.E241K NM_001195790.1 NP_001182719.1 Q6IEE8 SN12L_HUMAN schlafen family member 12-like 244 integral to membrane ATP binding breast(1)|endometrium(4)|kidney(5)|large_intestine(2)|lung(3)|ovary(1) 16 GTCAATTTTTCTTTATAACCA 0.358000 6 13 0 0 0.001168 0 0 PRKACA 5566 broad.mit.edu 37 19 14208443 14208443 + Missense_Mutation SNP C C A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr19:14208443C>A ENST00000308677.4 - 7 786 c.590G>T c.(589-591)tGg>tTg p.W197L PRKACA_ENST00000350356.3_5'UTR|PRKACA_ENST00000590853.1_Intron|PRKACA_ENST00000589994.1_Missense_Mutation_p.W189L NM_002730.3 NP_002721.1 P17612 KAPCA_HUMAN protein kinase, cAMP-dependent, catalytic, alpha 197 Protein kinase. activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|G2/M transition of mitotic cell cycle|gluconeogenesis|intracellular protein kinase cascade|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|regulation of insulin secretion|transmembrane transport|triglyceride catabolic process|water transport cAMP-dependent protein kinase complex|centrosome|cytosol|nucleoplasm|plasma membrane ATP binding|cAMP-dependent protein kinase activity|cAMP-dependent protein kinase inhibitor activity|protein kinase binding central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1) 16 GCACAAGGTCCAAGTGCGGCC 0.637000 27 37 4.7796e-09 5.05429e-09 0.004656 1 0 TCN1 6947 broad.mit.edu 37 11 59630112 59630112 + Missense_Mutation SNP C C T rs35287646 byFrequency TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr11:59630112C>T ENST00000257264.3 - 3 447 c.343G>A c.(343-345)Gat>Aat p.D115N TCN1_ENST00000532419.1_5'UTR NM_001062.3 NP_001053.2 P20061 TCO1_HUMAN transcobalamin I (vitamin B12 binding protein, R binder family) 115 cobalamin metabolic process|cobalamin transport|cobalt ion transport extracellular region cobalamin binding p.D115N(1) breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 29 all_epithelial(135;0.198) Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) AGGTGGTAATCATATATTAAG 0.363000 15 52 0 0 0.003163 0 0 FAM49A 81553 broad.mit.edu 37 2 16734264 16734264 + Silent SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr2:16734264G>A ENST00000381323.3 - 12 1132 c.912C>T c.(910-912)ttC>ttT p.F304F FAM49A_ENST00000355549.2_Silent_p.F304F|FAM49A_ENST00000406434.1_Silent_p.F304F NM_030797.3 NP_110424.1 Q9H0Q0 FA49A_HUMAN family with sequence similarity 49, member A 304 intracellular breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|skin(3)|upper_aerodigestive_tract(1) 23 Acute lymphoblastic leukemia(172;0.0734)|all_hematologic(175;0.088) GBM - Glioblastoma multiforme(3;0.00969) GCTTTGTAGTGAACCTGGATG 0.448000 16 28 0 0 0.008871 0 0 GON4L 54856 broad.mit.edu 37 1 155735348 155735348 + Missense_Mutation SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr1:155735348G>A ENST00000437809.1 - 21 4038 c.3916C>T c.(3916-3918)Cct>Tct p.P1306S GON4L_ENST00000368331.1_Missense_Mutation_p.P1306S|GON4L_ENST00000361040.5_Missense_Mutation_p.P1306S|GON4L_ENST00000471341.1_5'UTR|GON4L_ENST00000271883.5_Missense_Mutation_p.P1306S Q3T8J9 GON4L_HUMAN gon-4-like (C. elegans) 1306 regulation of transcription, DNA-dependent cytoplasm|nucleus DNA binding NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1) 45 Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195) ATGCCCTGAGGGAGCGGCTCC 0.517000 20 46 0 0 0.010504 0 0 AOX1 316 broad.mit.edu 37 2 201523929 201523929 + Silent SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr2:201523929C>T ENST00000374700.2 + 28 3454 c.3213C>T c.(3211-3213)caC>caT p.H1071H AOX1_ENST00000485106.1_3'UTR NM_001159.3 NP_001150.3 Q06278 ADO_HUMAN aldehyde oxidase 1 1071 inflammatory response|reactive oxygen species metabolic process cytoplasm 2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 81 Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909) CGAATGTCCACCTGCGTGGAA 0.443000 26 29 0 0 0.003330 0 0 SCN5A 6331 broad.mit.edu 37 3 38592469 38592469 + Nonsense_Mutation SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr3:38592469C>T ENST00000413689.1 - 28 5587 c.5394G>A c.(5392-5394)tgG>tgA p.W1798* SCN5A_ENST00000414099.2_Nonsense_Mutation_p.W1780*|SCN5A_ENST00000455624.2_Nonsense_Mutation_p.W1765*|SCN5A_ENST00000451551.2_Nonsense_Mutation_p.W1744*|SCN5A_ENST00000423572.2_Nonsense_Mutation_p.W1797*|SCN5A_ENST00000450102.2_Nonsense_Mutation_p.W1744*|SCN5A_ENST00000425664.1_Nonsense_Mutation_p.W1780*|SCN5A_ENST00000333535.4_Nonsense_Mutation_p.W1798*|SCN5A_ENST00000443581.1_Nonsense_Mutation_p.W1797*|SCN5A_ENST00000449557.2_Nonsense_Mutation_p.W1744* NM_001099404.1|NM_001160160.1 NP_001092874.1|NP_001153632.1 Q14524 SCN5A_HUMAN sodium channel, voltage-gated, type V, alpha subunit 1798 blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction sarcolemma|voltage-gated sodium channel complex protein binding|voltage-gated sodium channel activity NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4) 107 Medulloblastoma(35;0.163) KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1) Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661) CAAATTTCTCCCAGATCTCAT 0.532000 34 27 0 0 0.012213 0 0 FAT3 120114 broad.mit.edu 37 11 92599969 92599969 + Silent SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr11:92599969C>T ENST00000298047.6 + 21 11738 c.11721C>T c.(11719-11721)atC>atT p.I3907I FAT3_ENST00000533797.1_Silent_p.I242I|FAT3_ENST00000409404.2_Silent_p.I3907I|FAT3_ENST00000525166.1_Silent_p.I3757I Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 3907 Laminin G-like. 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) TCTTGGGCATCTCGGGCCGTG 0.602000 TCGA Ovarian(4;0.039) 174 230 0 0 0.014410 0 0 MYH7 4625 broad.mit.edu 37 14 23894993 23894993 + Missense_Mutation SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr14:23894993C>T ENST00000355349.3 - 20 2359 c.2197G>A c.(2197-2199)Gga>Aga p.G733R NM_000257.2 NP_000248.2 P12883 MYH7_HUMAN myosin, heavy chain 7, cardiac muscle, beta 733 Myosin head-like. G -> E (in CMH1). adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 137 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00725) ATGAACTGTCCCTCAGGGATG 0.547000 30 49 0 0 0.003271 0 0 OR4X1 390113 broad.mit.edu 37 11 48286276 48286276 + Silent SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr11:48286276G>A ENST00000320048.1 + 1 864 c.864G>A c.(862-864)agG>agA p.R288R NM_001004726.1 NP_001004726.1 Q8NH49 OR4X1_HUMAN olfactory receptor, family 4, subfamily X, member 1 (gene/pseudogene) 288 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(1) 28 ACTCCTTCAGGAATGCTGAAG 0.408000 26 41 0 0 0.003954 0 0 NTRK2 4915 broad.mit.edu 37 9 87636271 87636271 + Missense_Mutation SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr9:87636271G>A ENST00000376214.1 + 21 3374 c.2436G>A c.(2434-2436)atG>atA p.M812I NTRK2_ENST00000277120.3_Missense_Mutation_p.M812I|NTRK2_ENST00000376213.1_Missense_Mutation_p.M796I|NTRK2_ENST00000323115.4_Missense_Mutation_p.M796I NM_006180.3 NP_006171.2 Q16620 NTRK2_HUMAN neurotrophic tyrosine kinase, receptor, type 2 796 activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development integral to plasma membrane ATP binding|neurotrophin receptor activity|transmembrane receptor protein tyrosine kinase activity breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(2) 46 AGCCCCACATGAGGAAGAACA 0.597000 TSP Lung(25;0.17) 26 43 0 0 0.006320 0 0 SCN11A 11280 broad.mit.edu 37 3 38926778 38926778 + Splice_Site SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr3:38926778C>T ENST00000302328.3 - 17 3263 c.e17+1 SCN11A_ENST00000450244.1_Splice_Site|SCN11A_ENST00000456224.3_Splice_Site|SCN11A_ENST00000444237.2_Splice_Site NM_014139.2 NP_054858.2 Q9UI33 SCNBA_HUMAN sodium channel, voltage-gated, type XI, alpha subunit response to drug voltage-gated sodium channel complex voltage-gated sodium channel activity NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3) 119 Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226) Cocaine(DB00907) CTGCCACTTACCTTTGGGCAA 0.408000 16 15 0 0 0.004990 0 0 OR8K5 219453 broad.mit.edu 37 11 55927659 55927659 + Missense_Mutation SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr11:55927659C>T ENST00000313447.1 - 1 134 c.135G>A c.(133-135)atG>atA p.M45I NM_001004058.2 NP_001004058.2 Q8NH50 OR8K5_HUMAN olfactory receptor, family 8, subfamily K, member 5 45 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(3)|lung(24)|ovary(2)|pancreas(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 34 Esophageal squamous(21;0.00693) Lung NSC(402;0.197)|all_epithelial(135;0.236) TCAAAATGATCATAGTTAGGT 0.428000 26 46 0 0 0.003330 0 0 FBXL4 26235 broad.mit.edu 37 6 99374369 99374369 + Missense_Mutation SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr6:99374369G>A ENST00000369244.2 - 4 924 c.496C>T c.(496-498)Cca>Tca p.P166S FBXL4_ENST00000229971.1_Missense_Mutation_p.P166S Q9UKA2 FBXL4_HUMAN F-box and leucine-rich repeat protein 4 166 ubiquitin-dependent protein catabolic process cytoplasm|nucleus|ubiquitin ligase complex central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(4)|prostate(3)|skin(2) 18 all_cancers(76;1.56e-06)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00893)|Colorectal(196;0.069)|Lung NSC(302;0.197) BRCA - Breast invasive adenocarcinoma(108;0.0413) TCAGCTGGTGGATTTGGGGAA 0.368000 19 42 0 0 0.014323 0 0 TP53I13 90313 broad.mit.edu 37 17 27899364 27899364 + Missense_Mutation SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr17:27899364C>T ENST00000301057.7 + 6 833 c.718C>T c.(718-720)Cct>Tct p.P240S RP11-68I3.2_ENST00000581474.1_RNA NM_138349.2 NP_612358.3 Q8NBR0 P5I13_HUMAN tumor protein p53 inducible protein 13 240 cytoplasm|integral to membrane|plasma membrane NS(1)|kidney(1)|lung(1)|urinary_tract(1) 4 READ - Rectum adenocarcinoma(3;0.236) GGCGGGAATCCCTGGTAGGGA 0.657000 28 31 0 0 0.009535 0 0 PXDN 7837 broad.mit.edu 37 2 1653137 1653137 + Silent SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr2:1653137C>T ENST00000252804.4 - 17 2465 c.2415G>A c.(2413-2415)acG>acA p.T805T NM_012293.1 NP_036425.1 Q92626 PXDN_HUMAN peroxidasin homolog (Drosophila) 805 extracellular matrix organization|hydrogen peroxide catabolic process|immune response endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity p.T805T(1) breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 112 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716) all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228) TGACGGTCTCCGTCCCGATCA 0.652000 20 26 0 0 0.012319 0 0 SERPINA6 866 broad.mit.edu 37 14 94780716 94780716 + Silent SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr14:94780716G>A ENST00000341584.3 - 2 416 c.270C>T c.(268-270)ctC>ctT p.L90L NM_001756.3 NP_001747.2 P08185 CBG_HUMAN serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6 90 regulation of proteolysis|transport extracellular space serine-type endopeptidase inhibitor activity|steroid binding central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(1) 26 all_cancers(154;0.0482)|all_epithelial(191;0.166) COAD - Colon adenocarcinoma(157;0.211) Alclometasone(DB00240)|Beclomethasone(DB00394)|Ciclesonide(DB01410)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Medrysone(DB00253)|Mitotane(DB00648)|Paramethasone(DB01384)|Prednisolone(DB00860)|Rimexolone(DB00896)|Triamcinolone(DB00620) CCAGGCCCTGGAGAAGCTGGG 0.547000 12 17 0 0 0.001855 0 0 OR51I1 390063 broad.mit.edu 37 11 5462139 5462139 + Silent SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr11:5462139G>A ENST00000380211.1 - 1 605 c.606C>T c.(604-606)ctC>ctT p.L202L HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron NM_001005288.2 NP_001005288.1 Q9H343 O51I1_HUMAN olfactory receptor, family 51, subfamily I, member 1 202 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 30 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) TGATCACCAAGAGCCCATAAA 0.443000 18 18 0 0 0.004990 0 0 KCTD2 23510 broad.mit.edu 37 17 73059116 73059116 + Missense_Mutation SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr17:73059116C>T ENST00000322444.6 + 6 772 c.766C>T c.(766-768)Ctt>Ttt p.L256F KCTD2_ENST00000581589.1_Missense_Mutation_p.L57F NM_015353.1 NP_056168.1 Q14681 KCTD2_HUMAN potassium channel tetramerization domain containing 2 256 voltage-gated potassium channel complex voltage-gated potassium channel activity kidney(1)|lung(2) 3 all_lung(278;0.226) CTTTCAGATTCTTCAGGAGAG 0.542000 11 14 0 0 0.013537 0 0 RIBC2 26150 broad.mit.edu 37 22 45822019 45822019 + Silent SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr22:45822019C>T ENST00000342894.3 + 5 1062 c.648C>T c.(646-648)atC>atT p.I216I RIBC2_ENST00000538017.1_Silent_p.I284I|RIBC2_ENST00000466226.1_3'UTR Q9H4K1 RIBC2_HUMAN RIB43A domain with coiled-coils 2 216 NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|skin(2)|urinary_tract(1) 10 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.0178) TGGAGCAGATCCGCCTAGTCC 0.637000 20 17 0 0 0.010504 0 0 FAM47B 170062 broad.mit.edu 37 X 34961495 34961495 + Missense_Mutation SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chrX:34961495C>T ENST00000329357.5 + 1 583 c.547C>T c.(547-549)Ccc>Tcc p.P183S NM_152631.2 NP_689844.2 Q8NA70 FA47B_HUMAN family with sequence similarity 47, member B 183 breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3) 71 TGGTAAATATCCCTGTGGGGA 0.642000 15 5 0 0 0.004007 0 0 DNAH12 201625 broad.mit.edu 37 3 57488120 57488120 + Nonsense_Mutation SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr3:57488120C>T ENST00000351747.2 - 10 1353 c.1173G>A c.(1171-1173)tgG>tgA p.W391* DNAH12_ENST00000389536.4_Nonsense_Mutation_p.W391*|DNAH12_ENST00000311202.6_Nonsense_Mutation_p.W391* NM_178504.4 NP_848599.3 Q6ZR08 DYH12_HUMAN dynein, axonemal, heavy chain 12 391 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|prostate(1)|skin(1) 25 TATCAACAGCCCAGTGTAACA 0.393000 21 41 0 0 0.010504 0 0 ZSCAN1 284312 broad.mit.edu 37 19 58565116 58565116 + Silent SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr19:58565116C>T ENST00000282326.1 + 6 1171 c.924C>T c.(922-924)atC>atT p.I308I NM_182572.3 NP_872378.3 Q8NBB4 ZSCA1_HUMAN zinc finger and SCAN domain containing 1 308 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152) CCCACTTCATCGAGCACCAGA 0.632000 26 35 0 0 0.006320 0 0 LRSAM1 90678 broad.mit.edu 37 9 130236188 130236188 + Missense_Mutation SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr9:130236188C>T ENST00000323301.4 + 10 1332 c.728C>T c.(727-729)tCa>tTa p.S243L LRSAM1_ENST00000373324.4_Missense_Mutation_p.S243L|LRSAM1_ENST00000373322.1_Missense_Mutation_p.S243L|LRSAM1_ENST00000300417.6_Missense_Mutation_p.S243L NM_138361.5 NP_612370.3 Q6UWE0 LRSM1_HUMAN leucine rich repeat and sterile alpha motif containing 1 243 negative regulation of endocytosis|non-lytic virus budding|protein autoubiquitination|protein catabolic process|protein polyubiquitination|protein transport|ubiquitin-dependent endocytosis cytoplasm|extracellular region|membrane part hormone activity|ubiquitin-protein ligase activity|zinc ion binding central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(2) 16 GACAGATTCTCAAGGGAGGAG 0.537000 38 33 0 0 0.014410 0 0 MON1A 84315 broad.mit.edu 37 3 49950665 49950665 + Missense_Mutation SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr3:49950665C>T ENST00000417270.1 - 3 832 c.139G>A c.(139-141)Gga>Aga p.G47R CTD-2330K9.3_ENST00000419183.1_Intron|MON1A_ENST00000483022.1_5'UTR|MON1A_ENST00000296473.3_Missense_Mutation_p.G136R|MON1A_ENST00000455683.2_Missense_Mutation_p.G136R Q86VX9 MON1A_HUMAN MON1 secretory trafficking family member A 39 protein binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1) 13 BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621) GGCTCCATTCCCTGGGCCATT 0.547000 27 47 0 0 0.003954 0 0 ABCC12 94160 broad.mit.edu 37 16 48167670 48167670 + Silent SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr16:48167670G>A ENST00000311303.3 - 7 1401 c.1056C>T c.(1054-1056)atC>atT p.I352I ABCC12_ENST00000416054.1_Silent_p.I352I|ABCC12_ENST00000448542.1_Silent_p.I352I NM_033226.2 NP_150229.2 Q96J65 MRP9_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 12 352 ABC transmembrane type-1 1. integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1) 90 all_cancers(37;0.0474)|all_lung(18;0.047) TGGTGGACACGATGGGGGCCA 0.502000 25 25 0 0 0.005443 0 0 ZNF493 284443 broad.mit.edu 37 19 21607153 21607153 + Missense_Mutation SNP G G T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr19:21607153G>T ENST00000392288.2 + 4 1801 c.1692G>T c.(1690-1692)aaG>aaT p.K564N ZNF493_ENST00000355504.4_Missense_Mutation_p.K436N|CTD-2561J22.3_ENST00000600810.1_Intron NM_001076678.2 NP_001070146.1 Q6ZR52 ZN493_HUMAN zinc finger protein 493 436 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 30 CTACACATAAGAGAATTCATA 0.353000 6 7 3.59834e-05 3.78839e-05 0.001168 1 0 SLC6A20 54716 broad.mit.edu 37 3 45823701 45823701 + Missense_Mutation SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr3:45823701G>A ENST00000358525.4 - 2 251 c.136C>T c.(136-138)Ccc>Tcc p.P46S SLC6A20_ENST00000456124.2_Missense_Mutation_p.P46S|SLC6A20_ENST00000353278.4_Missense_Mutation_p.P46S NM_020208.3 NP_064593.1 Q9NP91 S6A20_HUMAN solute carrier family 6 (proline IMINO transporter), member 20 46 cellular nitrogen compound metabolic process|glycine transport|proline transport apical plasma membrane|integral to plasma membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity p.P46S(1) breast(1)|endometrium(1)|large_intestine(6)|ovary(2)|skin(2)|urinary_tract(1) 13 BRCA - Breast invasive adenocarcinoma(193;0.01)|KIRC - Kidney renal clear cell carcinoma(197;0.0225)|Kidney(197;0.0267) ATGATGTAGGGGACCAGGAAA 0.577000 10 27 0 0 0.008291 0 0 SDK1 221935 broad.mit.edu 37 7 4091412 4091412 + Missense_Mutation SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr7:4091412C>T ENST00000404826.2 + 19 3000 c.2861C>T c.(2860-2862)cCt>cTt p.P954L SDK1_ENST00000389531.3_Missense_Mutation_p.P954L NM_152744.3 NP_689957.3 Q7Z5N4 SDK1_HUMAN sidekick cell adhesion molecule 1 954 Fibronectin type-III 3. cell adhesion integral to membrane NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4) 153 all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194) UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15) TTCACCACCCCTGGGGACGGG 0.522000 41 68 0 0 0.013114 0 0 ALPK1 80216 broad.mit.edu 37 4 113352004 113352004 + Missense_Mutation SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr4:113352004C>T ENST00000458497.1 + 11 1580 c.1301C>T c.(1300-1302)cCc>cTc p.P434L ALPK1_ENST00000504176.2_Missense_Mutation_p.P356L|ALPK1_ENST00000177648.9_Missense_Mutation_p.P434L NM_001102406.1|NM_025144.3 NP_001095876.1|NP_079420.3 Q96QP1 ALPK1_HUMAN alpha-kinase 1 434 ATP binding|protein serine/threonine kinase activity NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1) 53 Ovarian(17;0.0446)|Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.00325) TCTTATGTTCCCGAGAGTTTC 0.423000 32 29 0 0 0.009535 0 0 CSMD2 114784 broad.mit.edu 37 1 34076734 34076734 + Missense_Mutation SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr1:34076734G>A ENST00000373381.4 - 41 6426 c.6250C>T c.(6250-6252)Cca>Tca p.P2084S CSMD2_ENST00000373377.1_Missense_Mutation_p.P183S|CSMD2_ENST00000373380.1_Missense_Mutation_p.P957S|CSMD2_ENST00000373388.2_Missense_Mutation_p.P183S NM_052896.3 NP_443128.2 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 2044 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) AGGGAGCTTGGAAGCTCGCTT 0.557000 76 9 0 0 0.014410 0 0 SNAP91 9892 broad.mit.edu 37 6 84303343 84303343 + Missense_Mutation SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr6:84303343G>A ENST00000428679.2 - 18 2143 c.1550C>T c.(1549-1551)cCa>cTa p.P517L SNAP91_ENST00000520302.1_Missense_Mutation_p.P515L|SNAP91_ENST00000521485.1_Missense_Mutation_p.P517L|SNAP91_ENST00000521743.1_Missense_Mutation_p.P517L|SNAP91_ENST00000195649.6_Missense_Mutation_p.P517L|SNAP91_ENST00000520213.1_Intron|SNAP91_ENST00000369694.2_Missense_Mutation_p.P517L|SNAP91_ENST00000439399.2_Missense_Mutation_p.P517L|SNAP91_ENST00000437520.1_Intron O60641 AP180_HUMAN synaptosomal-associated protein, 91kDa 517 Ala-rich. clathrin coat assembly clathrin coat|coated pit|plasma membrane 1-phosphatidylinositol binding|clathrin binding breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 37 all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575) BRCA - Breast invasive adenocarcinoma(397;0.0967) TGCGGGAACTGGAGGGGCTGT 0.607000 10 13 0 0 0.010729 0 0 WBSCR17 64409 broad.mit.edu 37 7 71036297 71036297 + Silent SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr7:71036297C>T ENST00000333538.5 + 6 1624 c.990C>T c.(988-990)ttC>ttT p.F330F WBSCR17_ENST00000498380.2_3'UTR NM_022479.1 NP_071924.1 Q6IS24 GLTL3_HUMAN Williams-Beuren syndrome chromosome region 17 330 Catalytic subdomain B. Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 100 all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125) GCTGCTCGTTCGTGGTCAACA 0.507000 39 63 0 0 0.005524 0 0 AQP12B 653437 broad.mit.edu 37 2 241622081 241622081 + Silent SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr2:241622081G>A ENST00000407834.3 - 1 236 c.174C>T c.(172-174)gtC>gtT p.V58V NM_001102467.1 NP_001095937.1 A6NM10 AQ12B_HUMAN aquaporin 12B 46 integral to membrane transporter activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|lung(8)|ovary(1) 13 all_epithelial(40;1.71e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;2.2e-31)|all cancers(36;1.08e-28)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.52e-06)|Lung(119;0.00163)|LUSC - Lung squamous cell carcinoma(224;0.008)|Colorectal(34;0.0124)|COAD - Colon adenocarcinoma(134;0.0757) GCCCGAGCTCGACCAGCGTCC 0.701000 17 19 0 0 0.004007 0 0 DTX1 1840 broad.mit.edu 37 12 113515335 113515335 + Missense_Mutation SNP T T G TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr12:113515335T>G ENST00000257600.3 + 2 869 c.366T>G c.(364-366)gaT>gaG p.D122E NM_004416.2 NP_004407.2 Q86Y01 DTX1_HUMAN deltex homolog 1 (Drosophila) 122 WWE 2. negative regulation of neuron differentiation|Notch signaling pathway|regulation of Notch signaling pathway|transcription from RNA polymerase II promoter cytoplasm|nucleus Notch binding|SH3 domain binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 32 CGGCCTACGATATGGACATCT 0.622000 4 57 0 0 0.003080 0 0 UBASH3A 53347 broad.mit.edu 37 21 43863490 43863490 + Missense_Mutation SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr21:43863490C>T ENST00000319294.6 + 13 1731 c.1700C>T c.(1699-1701)gCg>gTg p.A567V UBASH3A_ENST00000291535.6_Missense_Mutation_p.A529V|UBASH3A_ENST00000398367.1_Intron NM_018961.3 NP_061834.1 P57075 UBS3A_HUMAN ubiquitin associated and SH3 domain containing A 567 Phosphatase-like. cytosol|nucleus breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(9)|lung(12)|ovary(3) 28 AGGTGCACGGCGAGCATGGTG 0.587000 4 17 0 0 0.009096 0 0 ARHGAP15 55843 broad.mit.edu 37 2 143973992 143973992 + Missense_Mutation SNP G G T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr2:143973992G>T ENST00000409869.1 + 5 451 c.274G>T c.(274-276)Gca>Tca p.A92S ARHGAP15_ENST00000295095.6_Missense_Mutation_p.A92S Q53QZ3 RHG15_HUMAN Rho GTPase activating protein 15 92 PH. regulation of cell shape|small GTPase mediated signal transduction cytosol|membrane protein binding|Rac GTPase activator activity endometrium(1)|kidney(5)|large_intestine(8)|liver(2)|lung(15)|ovary(1)|skin(2) 34 BRCA - Breast invasive adenocarcinoma(221;0.151) AGCTAAAATTGCAGATGGAGG 0.308000 32 45 4.39465e-27 4.72662e-27 0.013726 1 0 PAPPA 5069 broad.mit.edu 37 9 119158854 119158854 + Missense_Mutation SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr9:119158854G>A ENST00000328252.3 + 22 5212 c.4843G>A c.(4843-4845)Gaa>Aaa p.E1615K PAPPA_ENST00000534838.1_Missense_Mutation_p.E653K|PAPPA_ENST00000483254.1_3'UTR NM_002581.3 NP_002572.2 Q13219 PAPP1_HUMAN pregnancy-associated plasma protein A, pappalysin 1 1615 cell differentiation|female pregnancy cytoplasm|extracellular region|membrane metalloendopeptidase activity|zinc ion binding NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 98 CCAGGCCCAAGAACACAGCCG 0.517000 39 75 0 0 0.005524 0 0 SLC2A10 81031 broad.mit.edu 37 20 45354326 45354326 + Silent SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr20:45354326C>T ENST00000359271.2 + 2 901 c.651C>T c.(649-651)tcC>tcT p.S217S NM_030777.3 NP_110404.1 O95528 GTR10_HUMAN solute carrier family 2 (facilitated glucose transporter), member 10 217 endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane D-glucose transmembrane transporter activity|sugar:hydrogen symporter activity central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1) 34 Myeloproliferative disorder(115;0.0122) CACGGTACTCCTTTCTGGACC 0.632000 44 53 0 0 0.011902 0 0 ZNF831 128611 broad.mit.edu 37 20 57768375 57768375 + Silent SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr20:57768375C>T ENST00000371030.2 + 1 2301 c.2301C>T c.(2299-2301)ccC>ccT p.P767P NM_178457.1 NP_848552.1 Q5JPB2 ZN831_HUMAN zinc finger protein 831 767 intracellular nucleic acid binding|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3) 125 all_lung(29;0.0085) CACCTGGCCCCCTCAAAGGGG 0.642000 11 20 0 0 0.010729 0 0 FAT4 79633 broad.mit.edu 37 4 126336140 126336140 + Missense_Mutation SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr4:126336140C>T ENST00000394329.3 + 5 6035 c.6022C>T c.(6022-6024)Cgg>Tgg p.R2008W FAT4_ENST00000335110.5_Missense_Mutation_p.R306W NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 2008 Cadherin 19. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 AGCTTTGGATCGGGAAAGTCA 0.433000 54 71 0 0 0.014410 0 0 KRT78 196374 broad.mit.edu 37 12 53242411 53242411 + Missense_Mutation SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr12:53242411G>A ENST00000304620.4 - 1 367 c.304C>T c.(304-306)Ccc>Tcc p.P102S NM_173352.2 NP_775487.2 Q8N1N4 K2C78_HUMAN keratin 78 102 Head. keratin filament protein binding|structural molecule activity endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 18 TGGAACTGGGGATCGATCTCA 0.572000 19 22 0 0 0.012319 0 0 DHTKD1 55526 broad.mit.edu 37 10 12143169 12143169 + Missense_Mutation SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr10:12143169G>A ENST00000263035.4 + 10 1947 c.1885G>A c.(1885-1887)Ggg>Agg p.G629R NM_018706.5 NP_061176.3 Q96HY7 DHTK1_HUMAN dehydrogenase E1 and transketolase domain containing 1 629 glycolysis mitochondrion oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1) 44 Renal(717;0.228) BRCA - Breast invasive adenocarcinoma(52;0.188) AAATCAGAAGGGGTTTCTAGA 0.473000 83 149 0 0 0.014410 0 0 CNOT1 23019 broad.mit.edu 37 16 58568274 58568274 + Missense_Mutation SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr16:58568274G>A ENST00000317147.5 - 40 6004 c.5672C>T c.(5671-5673)aCc>aTc p.T1891I CNOT1_ENST00000245138.4_Missense_Mutation_p.T742I|CNOT1_ENST00000569240.1_Missense_Mutation_p.T1886I NM_001265612.1|NM_016284.4 NP_001252541.1|NP_057368.3 A5YKK6 CNOT1_HUMAN CCR4-NOT transcription complex, subunit 1 1891 nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic mRNA processing body|cytosol breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2) 87 Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239) GAGATCATCGGTCTTCAGTAT 0.398000 11 10 0 0 0.010729 0 0 PRSS35 167681 broad.mit.edu 37 6 84234157 84234157 + Missense_Mutation SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr6:84234157G>A ENST00000536636.1 + 3 1342 c.997G>A c.(997-999)Gat>Aat p.D333N PRSS35_ENST00000369700.3_Missense_Mutation_p.D333N NM_001170423.1 NP_001163894.1 Q8N3Z0 PRS35_HUMAN protease, serine, 35 333 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity breast(2)|endometrium(2)|large_intestine(12)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 32 all_cancers(76;0.000113)|Acute lymphoblastic leukemia(125;1.09e-08)|all_hematologic(105;3.12e-05)|all_epithelial(107;0.0575) BRCA - Breast invasive adenocarcinoma(397;0.0768) CGAATCCAATGATCTCCTTTA 0.473000 39 47 0 0 0.006999 0 0 FOXRED2 80020 broad.mit.edu 37 22 36889754 36889754 + Missense_Mutation SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr22:36889754G>A ENST00000397224.4 - 8 1814 c.1721C>T c.(1720-1722)cCg>cTg p.P574L FOXRED2_ENST00000397223.4_Missense_Mutation_p.P574L|FOXRED2_ENST00000366463.3_Missense_Mutation_p.P126L|FOXRED2_ENST00000216187.6_Missense_Mutation_p.P574L NM_001102371.1 NP_001095841.1 Q8IWF2 FXRD2_HUMAN FAD-dependent oxidoreductase domain containing 2 574 ER-associated protein catabolic process endoplasmic reticulum lumen flavin adenine dinucleotide binding|oxidoreductase activity|protein binding p.P574L(1) breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 22 GTGCCCGATCGGGGCAGTCCA 0.557000 35 39 0 0 0.003271 0 0 SCN11A 11280 broad.mit.edu 37 3 38936125 38936125 + Missense_Mutation SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr3:38936125C>T ENST00000302328.3 - 15 2932 c.2734G>A c.(2734-2736)Gat>Aat p.D912N SCN11A_ENST00000450244.1_Missense_Mutation_p.D912N|SCN11A_ENST00000456224.3_Missense_Mutation_p.D912N|SCN11A_ENST00000444237.2_Missense_Mutation_p.D912N NM_014139.2 NP_054858.2 Q9UI33 SCNBA_HUMAN sodium channel, voltage-gated, type XI, alpha subunit 912 response to drug voltage-gated sodium channel complex voltage-gated sodium channel activity p.D912N(1) NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3) 119 Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226) Cocaine(DB00907) CAAGTCCAATCATGCCTGACG 0.507000 67 80 0 0 0.014410 0 0 THEMIS 387357 broad.mit.edu 37 6 128134831 128134831 + Missense_Mutation SNP A A C TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr6:128134831A>C ENST00000368250.1 - 5 1216 c.718T>G c.(718-720)Tta>Gta p.L240V THEMIS_ENST00000543064.1_Missense_Mutation_p.L319V|THEMIS_ENST00000537166.1_Missense_Mutation_p.L284V|THEMIS_ENST00000368248.2_Missense_Mutation_p.L319V Q8N1K5 THMS1_HUMAN thymocyte selection associated 319 CABIT 1. negative T cell selection|positive T cell selection|T cell receptor signaling pathway cytoplasm|nucleus breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3) 60 TCTGAAGCTAAGATTCTTGAT 0.453000 40 44 0 0 0.005524 0 0 OR51G1 79324 broad.mit.edu 37 11 4944768 4944768 + Missense_Mutation SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr11:4944768C>T ENST00000321961.2 - 1 869 c.802G>A c.(802-804)Gaa>Aaa p.E268K MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron NM_001005237.1 NP_001005237.1 Q8NGK1 O51G1_HUMAN olfactory receptor, family 51, subfamily G, member 1 268 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(4)|soft_tissue(1) 25 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;2.58e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19) GGCAGATGTTCACCAAAGCGA 0.502000 42 54 0 0 0.008740 0 0 FAM135A 57579 broad.mit.edu 37 6 71246050 71246050 + Silent SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr6:71246050C>T ENST00000418814.2 + 19 4667 c.4053C>T c.(4051-4053)acC>acT p.T1351T FAM135A_ENST00000457062.2_Silent_p.T1138T|FAM135A_ENST00000505769.1_Silent_p.T931T|FAM135A_ENST00000361499.3_Silent_p.T1155T|FAM135A_ENST00000370479.3_Silent_p.T1138T|FAM135A_ENST00000505868.1_Silent_p.T1351T NM_001105531.2|NM_001162529.1 NP_001099001.1|NP_001156001.1 Q9P2D6 F135A_HUMAN family with sequence similarity 135, member A 1351 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 AACTTCATACCTTTCTGTCTC 0.348000 17 34 0 0 0.008871 0 0 FKBP5 2289 broad.mit.edu 37 6 35610510 35610510 + Missense_Mutation SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr6:35610510C>T ENST00000542713.1 - 2 249 c.92G>A c.(91-93)aGg>aAg p.R31K FKBP5_ENST00000536438.1_Missense_Mutation_p.R31K|FKBP5_ENST00000357266.4_Missense_Mutation_p.R31K|FKBP5_ENST00000539068.1_Missense_Mutation_p.R31K|FKBP5_ENST00000540787.1_Intron NM_001145777.1 NP_001139249.1 Q13451 FKBP5_HUMAN FK506 binding protein 5 31 protein folding cytoplasm|membrane|nucleus FK506 binding|heat shock protein binding|peptidyl-prolyl cis-trans isomerase activity breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(3)|urinary_tract(2) 17 TAATACTCCCCTGTCTTTTTT 0.468000 52 66 0 0 0.014410 0 0 FAM3B 54097 broad.mit.edu 37 21 42716438 42716438 + Missense_Mutation SNP G G T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr21:42716438G>T ENST00000398652.3 + 5 506 c.440G>T c.(439-441)gGa>gTa p.G147V FAM3B_ENST00000357985.2_Missense_Mutation_p.G108V|FAM3B_ENST00000479810.2_3'UTR|FAM3B_ENST00000398646.3_Missense_Mutation_p.G131V|FAM3B_ENST00000398647.3_Missense_Mutation_p.G60V P58499 FAM3B_HUMAN family with sequence similarity 3, member B 108 apoptosis|insulin secretion extracellular space cytokine activity central_nervous_system(2)|endometrium(1)|lung(2) 5 Prostate(19;1.57e-07)|all_epithelial(19;0.0404) GTTGCCAGAGGAATAAACATT 0.433000 7 10 8.12818e-05 8.54245e-05 0.001984 1 0 SEC14L1 6397 broad.mit.edu 37 17 75196569 75196569 + Missense_Mutation SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr17:75196569C>T ENST00000413679.2 + 9 1126 c.823C>T c.(823-825)Cca>Tca p.P275S SEC14L1_ENST00000431431.2_Missense_Mutation_p.P241S|SEC14L1_ENST00000443798.4_Missense_Mutation_p.P275S|SEC14L1_ENST00000585618.1_Missense_Mutation_p.P275S|SEC14L1_ENST00000591437.1_Missense_Mutation_p.P241S|SEC14L1_ENST00000430767.4_Missense_Mutation_p.P275S|SEC14L1_ENST00000392476.2_Missense_Mutation_p.P275S|SEC14L1_ENST00000436233.4_Missense_Mutation_p.P275S NM_001143998.1|NM_001143999.1|NM_003003.3 NP_001137470.1|NP_001137471.1|NP_002994.3 Q92503 S14L1_HUMAN SEC14-like 1 (S. cerevisiae) 275 transport Golgi apparatus|integral to membrane binding NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(2) 31 TTAATAGATTCCAAAAGATGA 0.433000 27 46 0 0 0.006320 0 0 BMP15 9210 broad.mit.edu 37 X 50659043 50659043 + Silent SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chrX:50659043C>T ENST00000252677.3 + 2 615 c.615C>T c.(613-615)ctC>ctT p.L205L NM_005448.2 NP_005439.2 O95972 BMP15_HUMAN bone morphogenetic protein 15 205 female gamete generation|granulosa cell development|ovarian follicle development extracellular space cytokine activity|growth factor activity NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|skin(1) 26 Ovarian(276;0.236) TCCTACGACTCCGTTTTATGT 0.433000 41 3 0 0 0.007835 0 0 DCC 1630 broad.mit.edu 37 18 51025846 51025846 + Silent SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr18:51025846G>A ENST00000442544.2 + 27 4693 c.4077G>A c.(4075-4077)ccG>ccA p.P1359P RP11-671P2.1_ENST00000582064.1_RNA|DCC_ENST00000581580.1_Silent_p.P992P NM_005215.3 NP_005206.2 P43146 DCC_HUMAN deleted in colorectal carcinoma 1359 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) CAATAGAACCGAAAGTCCCTT 0.448000 36 57 0 0 0.005524 0 0 PCLO 27445 broad.mit.edu 37 7 82453677 82453677 + Missense_Mutation SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr7:82453677G>A ENST00000423517.2 - 19 14808 c.14471C>T c.(14470-14472)cCt>cTt p.P4824L PCLO_ENST00000333891.8_Missense_Mutation_p.P4824L|PCLO_ENST00000426442.2_5'UTR NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 4686 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 TTCTTTGAGAGGATACCACCT 0.398000 15 32 0 0 0.006122 0 0 ADCY8 114 broad.mit.edu 37 8 131916126 131916126 + Silent SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr8:131916126G>A ENST00000286355.5 - 7 3895 c.1803C>T c.(1801-1803)atC>atT p.I601I ADCY8_ENST00000377928.3_Silent_p.I601I NM_001115.2 NP_001106.1 P40145 ADCY8_HUMAN adenylate cyclase 8 (brain) 601 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|membrane fraction|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2) 134 Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000538) ACTCCTTGACGATATCTTCAG 0.483000 HNSCC(32;0.087) 30 46 0 0 0.009535 0 0 KLKB1 3818 broad.mit.edu 37 4 187171498 187171498 + Missense_Mutation SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr4:187171498C>T ENST00000264690.6 + 7 887 c.700C>T c.(700-702)Cac>Tac p.H234Y KLKB1_ENST00000513864.1_Missense_Mutation_p.H234Y NM_000892.3 NP_000883.2 P03952 KLKB1_HUMAN kallikrein B, plasma (Fletcher factor) 1 234 Apple 3. blood coagulation, intrinsic pathway|Factor XII activation|fibrinolysis|plasminogen activation|positive regulation of fibrinolysis cytoplasm|extracellular space|plasma membrane serine-type endopeptidase activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 40 all_cancers(14;1.55e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243) OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168) CTGCACCTATCACCCCAACTG 0.458000 52 62 0 0 0.014410 0 0 OR2L2 26246 broad.mit.edu 37 1 248201969 248201969 + Missense_Mutation SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr1:248201969C>T ENST00000366479.2 + 1 496 c.400C>T c.(400-402)Cgt>Tgt p.R134C OR2L13_ENST00000366478.2_Intron NM_001004686.2 NP_001004686.1 Q8NH16 OR2L2_HUMAN olfactory receptor, family 2, subfamily L, member 2 134 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1) 42 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0278) CTATCCCATCCGTATAAGCAA 0.428000 43 58 0 0 0.008740 0 0 OR4K13 390433 broad.mit.edu 37 14 20502796 20502796 + Missense_Mutation SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr14:20502796C>T ENST00000315693.2 - 1 123 c.122G>A c.(121-123)gGa>gAa p.G41E NM_001004714.1 NP_001004714.1 Q8NH42 OR4KD_HUMAN olfactory receptor, family 4, subfamily K, member 13 41 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4) 24 all_cancers(95;0.00108) Epithelial(56;4.65e-07)|all cancers(55;2.9e-06) GBM - Glioblastoma multiforme(265;0.0064) GAGCAGGTTTCCTAACACAAT 0.418000 24 22 0 0 0.002780 0 0 DNAJA3 9093 broad.mit.edu 37 16 4476020 4476020 + Missense_Mutation SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr16:4476020C>T ENST00000431375.2 + 1 155 c.28C>T c.(28-30)Cgc>Tgc p.R10C DNAJA3_ENST00000355296.4_Silent_p.P46P|DNAJA3_ENST00000262375.6_Silent_p.P46P Q96EY1 DNJA3_HUMAN DnaJ (Hsp40) homolog, subfamily A, member 3 0 activation of caspase activity|negative regulation of apoptosis|negative regulation of caspase activity|negative regulation of cell proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein kinase activity|neuromuscular junction development|positive regulation of apoptosis|positive regulation of protein ubiquitination|protein folding|protein stabilization|response to heat|response to interferon-gamma cytosol|mitochondrial matrix|mitochondrial nucleoid|nucleus ATP binding|heat shock protein binding|interferon-gamma receptor binding|metal ion binding|NF-kappaB binding|protein kinase binding NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|ovary(2)|upper_aerodigestive_tract(2) 15 TGAGCGTCCCCGCCTTTGCGT 0.677000 7 6 0 0 0.003080 0 0 FBXL13 222235 broad.mit.edu 37 7 102665603 102665603 + Silent SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr7:102665603G>A ENST00000393772.2 - 6 828 c.402C>T c.(400-402)tcC>tcT p.S134S FBXL13_ENST00000379308.3_Silent_p.S134S|FBXL13_ENST00000379305.3_Silent_p.S134S|FBXL13_ENST00000455112.2_Silent_p.S134S|FBXL13_ENST00000436908.1_Silent_p.S134S|FBXL13_ENST00000471074.1_5'UTR|FBXL13_ENST00000379306.3_Silent_p.S134S|FBXL13_ENST00000456695.1_Silent_p.S134S|FBXL13_ENST00000313221.4_Silent_p.S134S Q8NEE6 FXL13_HUMAN F-box and leucine-rich repeat protein 13 134 NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|skin(3)|stomach(1) 27 CAGGAAAATTGGATTCTTCTG 0.303000 18 21 0 0 0.006122 0 0 IMPDH2 3615 broad.mit.edu 37 3 49061839 49061839 + Splice_Site SNP T T C TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr3:49061839T>C ENST00000326739.4 - 14 1563 c.e14-2 NM_000884.2 NP_000875.2 P12268 IMDH2_HUMAN IMP (inosine 5'-monophosphate) dehydrogenase 2 GMP biosynthetic process|purine base metabolic process cytosol|nucleus IMP dehydrogenase activity|metal ion binding|nucleotide binding|protein binding breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(2)|stomach(1)|urinary_tract(1) 16 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|NADH(DB00157) TTCTCATACCTGCAGGCAGAA 0.483000 27 39 0 0 0.007291 0 0 LRRC32 2615 broad.mit.edu 37 11 76371341 76371341 + Silent SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr11:76371341G>A ENST00000407242.2 - 3 1538 c.1296C>T c.(1294-1296)ggC>ggT p.G432G LRRC32_ENST00000260061.5_Silent_p.G432G|AP001189.4_ENST00000447519.1_RNA|LRRC32_ENST00000464145.1_Intron|LRRC32_ENST00000404995.1_Silent_p.G432G NM_005512.2 NP_005503.1 Q14392 LRC32_HUMAN leucine rich repeat containing 32 432 integral to plasma membrane endometrium(1)|large_intestine(3)|lung(26)|upper_aerodigestive_tract(1) 31 AGCCGGAGGGGCCAGGCTCAT 0.657000 16 8 0 0 0.004990 0 0 C14orf166B 145497 broad.mit.edu 37 14 77294698 77294698 + Silent SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr14:77294698C>T ENST00000393774.3 + 2 277 c.153C>T c.(151-153)tcC>tcT p.S51S C14orf166B_ENST00000460005.1_3'UTR|C14orf166B_ENST00000216453.5_Silent_p.S8S|C14orf166B_ENST00000450042.2_Silent_p.S34S NM_194287.2 NP_919263.2 Q0VAA2 CN16B_HUMAN chromosome 14 open reading frame 166B 51 breast(1)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(1) 18 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0306) AGGCCGAATCCCCGCCGACTG 0.502000 29 29 0 0 0.008361 0 0 INHA 3623 broad.mit.edu 37 2 220440064 220440064 + Missense_Mutation SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr2:220440064C>T ENST00000243786.2 + 2 1097 c.917C>T c.(916-918)cCa>cTa p.P306L NM_002191.3 NP_002182.1 P05111 INHA_HUMAN inhibin, alpha 306 cell cycle arrest|cell surface receptor linked signaling pathway|cell-cell signaling|erythrocyte differentiation|hemoglobin biosynthetic process|induction of apoptosis|negative regulation of B cell differentiation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|ovarian follicle development|positive regulation of follicle-stimulating hormone secretion|regulation of cell proliferation|response to external stimulus|skeletal system development inhibin A complex|inhibin-betaglycan-ActRII complex cytokine activity|growth factor activity|hormone activity|signal transducer activity large_intestine(2)|lung(5)|ovary(1)|skin(1)|urinary_tract(1) 10 Renal(207;0.0183) Epithelial(149;4.58e-07)|all cancers(144;4.31e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802) CTGTCCCTTCCAGTCCCTGGG 0.632000 36 55 0 0 0.003755 0 0 PDZD3 79849 broad.mit.edu 37 11 119059487 119059487 + Nonsense_Mutation SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr11:119059487C>T ENST00000531114.1 + 7 1945 c.1396C>T c.(1396-1398)Cga>Tga p.R466* PDZD3_ENST00000525131.1_Nonsense_Mutation_p.R387*|PDZD3_ENST00000322712.4_Nonsense_Mutation_p.R386*|PDZD3_ENST00000392817.2_Nonsense_Mutation_p.R466*|PDZD3_ENST00000355547.5_Nonsense_Mutation_p.R400* Q86UT5 NHRF4_HUMAN PDZ domain containing 3 466 cGMP-mediated signaling|ion transport|negative regulation of cGMP biosynthetic process|response to toxin|water transport apical part of cell|brush border|cytosol|membrane fraction|subapical complex guanylate cyclase inhibitor activity|ion channel inhibitor activity|protein C-terminus binding breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(4)|ovary(1) 14 all_hematologic(175;0.0977) Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;7.52e-05) TCTTGGCTCCCGACAGTGCTT 0.622000 42 44 0 0 0.011902 0 0 NR1I3 9970 broad.mit.edu 37 1 161200676 161200676 + Missense_Mutation SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr1:161200676C>T ENST00000367983.4 - 8 1138 c.844G>A c.(844-846)Gat>Aat p.D282N NR1I3_ENST00000437437.2_Missense_Mutation_p.D253N|NR1I3_ENST00000515621.1_Missense_Mutation_p.D207N|NR1I3_ENST00000442691.2_Missense_Mutation_p.D286N|NR1I3_ENST00000511944.1_Silent_p.L139L|NR1I3_ENST00000511676.1_Missense_Mutation_p.D253N|NR1I3_ENST00000367984.4_Missense_Mutation_p.D243N|NR1I3_ENST00000511748.1_Silent_p.L110L|NR1I3_ENST00000479324.1_5'UTR|NR1I3_ENST00000508740.1_Missense_Mutation_p.D258N|NR1I3_ENST00000412844.2_Missense_Mutation_p.D262N|NR1I3_ENST00000506209.1_Missense_Mutation_p.D253N|NR1I3_ENST00000505005.1_Missense_Mutation_p.D243N|NR1I3_ENST00000504010.1_Missense_Mutation_p.D214N|NR1I3_ENST00000367980.2_Missense_Mutation_p.D291N|NR1I3_ENST00000428574.2_Missense_Mutation_p.D287N|NR1I3_ENST00000508387.1_Silent_p.L110L|NR1I3_ENST00000367982.4_Missense_Mutation_p.D286N|NR1I3_ENST00000367985.3_Missense_Mutation_p.D248N|NR1I3_ENST00000512372.1_Missense_Mutation_p.D214N|NR1I3_ENST00000367981.3_Missense_Mutation_p.D258N|NR1I3_ENST00000367979.2_Missense_Mutation_p.D291N|NR1I3_ENST00000502985.1_Silent_p.L139L Q14994 NR1I3_HUMAN nuclear receptor subfamily 1, group I, member 3 286 regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm androgen receptor activity|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity|transcription coactivator activity|zinc ion binding endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1) 15 all_cancers(52;1.86e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00376) TGCAGCTGATCAATCTCATCT 0.607000 18 29 0 0 0.010504 0 0 PLEKHG6 55200 broad.mit.edu 37 12 6422940 6422940 + Missense_Mutation SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr12:6422940C>T ENST00000449001.2 + 2 682 c.188C>T c.(187-189)cCc>cTc p.P63L PLEKHG6_ENST00000396988.3_Missense_Mutation_p.P95L|PLEKHG6_ENST00000011684.7_Missense_Mutation_p.P95L|PLEKHG6_ENST00000536531.1_Missense_Mutation_p.P95L NM_001144857.1 NP_001138329.1 Q3KR16 PKHG6_HUMAN pleckstrin homology domain containing, family G (with RhoGef domain) member 6 95 regulation of Rho protein signal transduction cleavage furrow|cytoplasm|spindle pole GTPase activator activity|Rho guanyl-nucleotide exchange factor activity autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(4) 23 CTTCACTCCCCCAAACTCAAG 0.637000 32 33 0 0 0.013726 0 0 OR11G2 390439 broad.mit.edu 37 14 20665716 20665716 + Silent SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr14:20665716C>T ENST00000357366.3 + 1 222 c.222C>T c.(220-222)ctC>ctT p.L74L NM_001005503.1 NP_001005503.1 Q8NGC1 O11G2_HUMAN olfactory receptor, family 11, subfamily G, member 2 74 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2) 22 all_cancers(95;0.00108) Epithelial(56;9.76e-07)|all cancers(55;5.61e-06) GBM - Glioblastoma multiforme(265;0.0144) TTGTTTACCTCCTGACCCTCA 0.567000 16 46 0 0 0.004990 0 0 OR2T4 127074 broad.mit.edu 37 1 248525497 248525497 + Silent SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr1:248525497G>A ENST00000366475.1 + 1 615 c.615G>A c.(613-615)gaG>gaA p.E205E NM_001004696.1 NP_001004696.1 Q8NH00 OR2T4_HUMAN olfactory receptor, family 2, subfamily T, member 4 205 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47) 56 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) GATCCCGGGAGATTCATCATT 0.498000 63 96 0 0 0.014410 0 0 XDH 7498 broad.mit.edu 37 2 31572901 31572901 + Silent SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr2:31572901C>T ENST00000379416.3 - 25 2868 c.2820G>A c.(2818-2820)gaG>gaA p.E940E NM_000379.3 NP_000370.2 P47989 XDH_HUMAN xanthine dehydrogenase 940 purine nucleotide catabolic process|xanthine catabolic process cytosol|extracellular region|peroxisome 2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1) 74 Acute lymphoblastic leukemia(172;0.155) Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163) AGCTTACCTCCTCTGCAGGCA 0.577000 59 86 0 0 0.014410 0 0 NWD1 284434 broad.mit.edu 37 19 16908590 16908590 + Missense_Mutation SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr19:16908590C>T ENST00000524140.2 + 16 3770 c.3352C>T c.(3352-3354)Cgc>Tgc p.R1118C NWD1_ENST00000549814.1_Missense_Mutation_p.R1118C|NWD1_ENST00000523826.1_Missense_Mutation_p.R912C|NWD1_ENST00000339803.6_Missense_Mutation_p.R983C|NWD1_ENST00000379808.3_Missense_Mutation_p.R1118C|NWD1_ENST00000552788.1_Missense_Mutation_p.R1118C NM_001007525.3 NP_001007526.3 Q149M9 NWD1_HUMAN NACHT and WD repeat domain containing 1 1118 ATP binding p.R983C(1) NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 GAGGGGCTTTCGCCGATTCAT 0.537000 104 120 0 0 0.014410 0 0 SALL3 27164 broad.mit.edu 37 18 76754520 76754520 + Silent SNP G G T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr18:76754520G>T ENST00000536229.3 + 1 2839 c.2130G>T c.(2128-2130)ctG>ctT p.L710L SALL3_ENST00000575389.2_Silent_p.L843L|SALL3_ENST00000537592.2_Silent_p.L843L Q9BXA9 SALL3_HUMAN spalt-like transcription factor 3 843 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 74 Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167) OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256) TTGCCGCCCTGGAGAACCAGA 0.667000 5 74 3.59834e-05 3.78839e-05 0.001168 1 0 EPHB1 2047 broad.mit.edu 37 3 134670370 134670370 + Missense_Mutation SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr3:134670370G>A ENST00000398015.3 + 3 651 c.281G>A c.(280-282)aGa>aAa p.R94K EPHB1_ENST00000488154.1_3'UTR NM_004441.4 NP_004432.1 P54762 EPHB1_HUMAN EPH receptor B1 94 integral to plasma membrane ATP binding|ephrin receptor activity|protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2) 130 TTCACTGTGAGAGACTGCAGC 0.532000 11 9 0 0 0.010729 0 0 MFGE8 4240 broad.mit.edu 37 15 89449929 89449929 + Silent SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr15:89449929C>T ENST00000539437.1 - 5 580 c.444G>A c.(442-444)aaG>aaA p.K148K MFGE8_ENST00000542878.1_Silent_p.K112K|MFGE8_ENST00000559997.1_Intron|MFGE8_ENST00000268151.7_Silent_p.K156K|MFGE8_ENST00000268150.8_Silent_p.K156K|MFGE8_ENST00000566497.1_Silent_p.K156K Q08431 MFGM_HUMAN milk fat globule-EGF factor 8 protein 156 F5/8 type C 1. angiogenesis|cell adhesion|interspecies interaction between organisms|single fertilization breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1) 22 Lung NSC(78;0.0392)|all_lung(78;0.077) CCTTGAAGGCCTTCAGGTACT 0.537000 34 33 0 0 0.004289 0 0 TTBK2 146057 broad.mit.edu 37 15 43045283 43045283 + Missense_Mutation SNP G G T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr15:43045283G>T ENST00000267890.6 - 14 2269 c.2161C>A c.(2161-2163)Cct>Act p.P721T NM_173500.3 NP_775771.3 Q6IQ55 TTBK2_HUMAN tau tubulin kinase 2 721 cell death ATP binding|protein serine/threonine kinase activity NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2) 43 all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216) GBM - Glioblastoma multiforme(94;3.23e-07) CCACTAGGAGGTTCACCCTCT 0.463000 53 93 4.96213e-28 5.34177e-28 0.014410 1 0 SLC4A9 83697 broad.mit.edu 37 5 139741433 139741433 + Silent SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr5:139741433C>T ENST00000230993.6 + 4 653 c.618C>T c.(616-618)gcC>gcT p.A206A SLC4A9_ENST00000432095.2_Silent_p.A182A|SLC4A9_ENST00000506545.1_Silent_p.A182A|SLC4A9_ENST00000507527.1_Silent_p.A206A|SLC4A9_ENST00000506757.2_Silent_p.A182A NM_001258428.1 NP_001245357.1 Q96Q91 B3A4_HUMAN solute carrier family 4, sodium bicarbonate cotransporter, member 9 206 integral to membrane|plasma membrane inorganic anion exchanger activity|sodium:bicarbonate symporter activity endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|prostate(1) 14 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ATGAGGAAGCCCCCCTGAGGG 0.502000 64 11 0 0 0.014410 0 0 E4F1 1877 broad.mit.edu 37 16 2282530 2282530 + Missense_Mutation SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr16:2282530C>T ENST00000301727.4 + 5 731 c.683C>T c.(682-684)tCc>tTc p.S228F E4F1_ENST00000565090.1_Missense_Mutation_p.S228F|E4F1_ENST00000564139.1_Missense_Mutation_p.S228F NM_004424.3 NP_004415.2 Q66K89 E4F1_HUMAN E4F transcription factor 1 228 Mediates dimerization, DNA-binding, transcription repression of CCNA2 and interaction with HMGA2. cell division|cell proliferation|interspecies interaction between organisms|mitosis|regulation of growth cytoplasm|nucleoplasm DNA binding|ligase activity|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding ovary(1) 1 TGTGGGGCCTCCTTCCGCACC 0.692000 17 13 0 0 0.006122 0 0 KEL 3792 broad.mit.edu 37 7 142649704 142649704 + Missense_Mutation SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr7:142649704C>T ENST00000355265.2 - 10 1569 c.1095G>A c.(1093-1095)atG>atA p.M365I KEL_ENST00000479768.2_5'UTR NM_000420.2 NP_000411.1 P23276 KELL_HUMAN Kell blood group, metallo-endopeptidase 365 proteolysis|vasoconstriction integral to membrane|plasma membrane metal ion binding|metalloendopeptidase activity|protein binding p.M365I(1) central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1) 60 Melanoma(164;0.059) GCCCTAAGATCATGTGGCTCT 0.527000 21 28 0 0 0.002780 0 0 ARHGEF12 23365 broad.mit.edu 37 11 120310856 120310856 + Missense_Mutation SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr11:120310856G>A ENST00000397843.2 + 13 1184 c.1018G>A c.(1018-1020)Gga>Aga p.G340R ARHGEF12_ENST00000532993.1_Missense_Mutation_p.G237R|ARHGEF12_ENST00000356641.3_Missense_Mutation_p.G321R NM_015313.2 NP_056128.1 Q9NZN5 ARHGC_HUMAN Rho guanine nucleotide exchange factor (GEF) 12 340 apoptosis|axon guidance|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|membrane G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2) 61 Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231) ATCACTTGTCGGAAGTCCCTC 0.373000 T MLL AML 39 59 0 0 0.009718 0 0 RBM47 54502 broad.mit.edu 37 4 40427972 40427972 + Silent SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr4:40427972G>A ENST00000319592.4 - 6 2233 c.1524C>T c.(1522-1524)ttC>ttT p.F508F RBM47_ENST00000381795.6_Silent_p.F508F|RBM47_ENST00000295971.7_Silent_p.F577F|RBM47_ENST00000514014.1_Silent_p.F539F|RBM47_ENST00000381793.2_Silent_p.F577F A0AV96 RBM47_HUMAN RNA binding motif protein 47 577 Ala-rich. nucleus nucleotide binding|RNA binding breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 29 CAGCAGCAGGGAAGGCCTGAG 0.587000 34 35 0 0 0.013726 0 0 CPNE9 151835 broad.mit.edu 37 3 9771260 9771260 + Missense_Mutation SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr3:9771260G>A ENST00000383832.3 + 21 1736 c.1546G>A c.(1546-1548)Gat>Aat p.D516N NM_153635.2 NP_705899.2 Q8IYJ1 CPNE9_HUMAN copine family member IX 516 breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 16 Medulloblastoma(99;0.227) ACTGGCCAAGGATGTGCTGGC 0.622000 34 35 0 0 0.003755 0 0 MYH13 8735 broad.mit.edu 37 17 10263492 10263492 + Silent SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr17:10263492C>T ENST00000418404.3 - 5 682 c.519G>A c.(517-519)caG>caA p.Q173Q MYH13_ENST00000252172.4_Silent_p.Q173Q|MYH13_ENST00000570743.1_Silent_p.Q173Q Q9UKX3 MYH13_HUMAN myosin, heavy chain 13, skeletal muscle 173 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 TGAGGATAGACTGGTTGTCTC 0.403000 14 15 0 0 0.001855 0 0 ZSWIM2 151112 broad.mit.edu 37 2 187702044 187702044 + Silent SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr2:187702044C>T ENST00000295131.2 - 5 771 c.732G>A c.(730-732)ggG>ggA p.G244G NM_182521.2 NP_872327.2 Q8NEG5 ZSWM2_HUMAN zinc finger, SWIM-type containing 2 244 apoptosis zinc ion binding cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1) 52 OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164) TATAACACTTCCCCTCAATTG 0.368000 22 51 0 0 0.002780 0 0 PSMA8 143471 broad.mit.edu 37 18 23759033 23759033 + Splice_Site SNP T T C TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr18:23759033T>C ENST00000308268.6 + 6 706 c.615_splice c.e6-1 p.V206_splice PSMA8_ENST00000343848.6_Splice_Site_p.V162_splice|PSMA8_ENST00000415576.2_Splice_Site_p.V200_splice NM_001025096.1|NM_144662.2 NP_001020267.1|NP_653263.2 Q8TAA3 PSA7L_HUMAN proteasome (prosome, macropain) subunit, alpha type, 8 206 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction cytoplasm|nucleus|proteasome core complex, alpha-subunit complex threonine-type endopeptidase activity breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|skin(2) 16 all_cancers(21;0.000585)|Lung NSC(5;0.00148)|all_lung(6;0.0038)|Ovarian(20;0.124) OV - Ovarian serous cystadenocarcinoma(3;0.000324)|all cancers(3;0.000954)|LUSC - Lung squamous cell carcinoma(2;0.181) CTACATTAGGTTGTCCAGTCT 0.289000 27 34 0 0 0.008361 0 0 ZNF319 57567 broad.mit.edu 37 16 58031661 58031661 + Missense_Mutation SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr16:58031661G>A ENST00000299237.2 - 2 1131 c.509C>T c.(508-510)gCt>gTt p.A170V NM_020807.1 NP_065858.1 Q9P2F9 ZN319_HUMAN zinc finger protein 319 170 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(2)|lung(4)|ovary(1)|urinary_tract(1) 8 CGCTGCCTCAGCTGGCTTGTA 0.622000 89 122 0 0 0.014410 0 0 UBE4B 10277 broad.mit.edu 37 1 10195157 10195157 + Missense_Mutation SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr1:10195157C>T ENST00000377157.3 + 15 2463 c.1402C>T c.(1402-1404)Cac>Tac p.H468Y UBE4B_ENST00000343090.6_Missense_Mutation_p.H713Y|UBE4B_ENST00000253251.8_Missense_Mutation_p.H584Y NM_006048.4 NP_006039.2 O95155 UBE4B_HUMAN ubiquitination factor E4B 713 apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV cytoplasm|ubiquitin ligase complex enzyme binding NS(3)|breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(14)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 48 all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046) GTATATTTTTCACCCAAGATG 0.418000 20 7 0 0 0.007413 0 0 GPR98 84059 broad.mit.edu 37 5 89924507 89924507 + Missense_Mutation SNP T T C TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr5:89924507T>C ENST00000405460.2 + 8 1463 c.1367T>C c.(1366-1368)cTc>cCc p.L456P NM_032119.3 NP_115495.3 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 456 Calx-beta 4. 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) TCTGGAGTTCTCCATTTTGCA 0.478000 39 10 0 0 0.010771 0 0 MAGEB2 4113 broad.mit.edu 37 X 30237372 30237372 + Silent SNP A A G TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chrX:30237372A>G ENST00000378988.4 + 2 776 c.675A>G c.(673-675)gaA>gaG p.E225E NM_002364.4 NP_002355.2 O15479 MAGB2_HUMAN melanoma antigen family B, 2 225 MAGE. protein binding breast(1)|large_intestine(3)|lung(17)|ovary(1)|skin(1) 23 AGATCTGGGAATTCCTGAATA 0.483000 4 26 0 0 0.009096 0 0 RAF1 5894 broad.mit.edu 37 3 12645699 12645699 + Missense_Mutation SNP G G A rs80338796 TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr3:12645699G>A ENST00000251849.4 - 7 1209 c.770C>T c.(769-771)tCg>tTg p.S257L RAF1_ENST00000442415.2_Missense_Mutation_p.S257L|RAF1_ENST00000542177.1_Missense_Mutation_p.S176L|RAF1_ENST00000534997.1_Missense_Mutation_p.S42L NM_002880.3 NP_002871.1 P04049 RAF1_HUMAN v-raf-1 murine leukemia viral oncogene homolog 1 257 S -> L (in NS5 and LEOPARD2; shows in vitro greater kinase activity and enhanced ERK activation than wild-type). activation of MAPKK activity|apoptosis|axon guidance|cell proliferation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of protein complex assembly|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of peptidyl-serine phosphorylation|Ras protein signal transduction|synaptic transmission cytosol|mitochondrial outer membrane|plasma membrane ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|receptor signaling protein activity p.S257L(3)|p.S257W(1) ESRP1/RAF1(4)|RAF1/DAZL(2)|SRGAP3/RAF1(6) biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1) 32 Sorafenib(DB00398) TGTGGATGTCGACCTCTGCCT 0.527000 T SRGAP3 pilocytic astrocytoma Noonan syndrome 46 51 0 0 0.011902 0 0 TNFRSF14 8764 broad.mit.edu 37 1 2494649 2494649 + Missense_Mutation SNP C C G rs143633292 by1000genomes TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr1:2494649C>G ENST00000355716.4 + 8 1088 c.789C>G c.(787-789)gaC>gaG p.D263E NM_003820.2 NP_003811.2 Q92956 TNR14_HUMAN tumor necrosis factor receptor superfamily, member 14 263 immune response|interspecies interaction between organisms|T cell costimulation tumor necrosis factor receptor activity kidney(1) 1 all_cancers(77;0.000158)|all_epithelial(69;8.01e-05)|all_lung(157;0.0212)|Lung NSC(156;0.0376)|Ovarian(185;0.0634) all_epithelial(116;3.18e-20)|all_lung(118;1.67e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123) Epithelial(90;1.1e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.02e-23)|GBM - Glioblastoma multiforme(42;1.11e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000326)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.199) CCCCTCCGGACGTCACCACGG 0.622000 """Mis, N, F""" follicular lymphoma 65 10 0 0 0.014410 0 0 ADGRG6 57211 broad.mit.edu 37 6 142737022 142737022 + Nonsense_Mutation SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr6:142737022G>A ENST00000230173.6 + 20 3235 c.2759G>A c.(2758-2760)tGg>tAg p.W920* GPR126_ENST00000367609.3_Nonsense_Mutation_p.W920*|GPR126_ENST00000367608.2_Nonsense_Mutation_p.W892*|GPR126_ENST00000296932.8_Nonsense_Mutation_p.W892* NM_020455.5 NP_065188.4 Q86SQ4 GP126_HUMAN G protein-coupled receptor 126 920 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity cervix(1)|endometrium(1)|kidney(3)|large_intestine(12)|lung(10)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 36 Breast(32;0.176) OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121) CTAGATGGCTGGATCACCTCC 0.463000 42 70 0 0 0.009718 0 0 TNNI3K 51086 broad.mit.edu 37 1 74905264 74905264 + Missense_Mutation SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr1:74905264G>A ENST00000370891.2 + 22 2288 c.2272G>A c.(2272-2274)Gaa>Aaa p.E758K FPGT-TNNI3K_ENST00000557284.1_Missense_Mutation_p.E758K|TNNI3K_ENST00000326637.3_Missense_Mutation_p.E657K|FPGT-TNNI3K_ENST00000370899.3_Missense_Mutation_p.E758K NM_001112808.2 NP_001106279.1 TNNI3 interacting kinase cervix(1)|endometrium(3)|kidney(5)|large_intestine(21)|lung(31)|ovary(4)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3) 76 GTGTCTGTGGGAAATTCTCAC 0.458000 61 6 0 0 0.014410 0 0 CHD9 80205 broad.mit.edu 37 16 53279686 53279686 + Silent SNP A A T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr16:53279686A>T ENST00000566029.1 + 15 3587 c.3378A>T c.(3376-3378)ggA>ggT p.G1126G CHD9_ENST00000398510.3_Silent_p.G1126G|CHD9_ENST00000447540.1_Silent_p.G1126G|CHD9_ENST00000564845.1_Silent_p.G1126G Q3L8U1 CHD9_HUMAN chromodomain helicase DNA binding protein 9 1126 cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleoplasm ATP binding|DNA binding|helicase activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 78 all_cancers(37;0.0212) AAGGAGCAGGACAAACTAATG 0.323000 23 18 0 0 0.014323 0 0 TCHHL1 126637 broad.mit.edu 37 1 152058877 152058877 + Silent SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr1:152058877C>T ENST00000368806.1 - 3 1345 c.1281G>A c.(1279-1281)caG>caA p.Q427Q NM_001008536.1 NP_001008536.1 Q5QJ38 TCHL1_HUMAN trichohyalin-like 1 427 calcium ion binding breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1) 60 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.246) CTTGGAGTTCCTGATACTTCC 0.468000 59 79 0 0 0.014410 0 0 GDAP1 54332 broad.mit.edu 37 8 75263658 75263658 + Silent SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr8:75263658G>A ENST00000220822.7 + 2 347 c.267G>A c.(265-267)gaG>gaA p.E89E GDAP1_ENST00000434412.2_Silent_p.E21E|GDAP1_ENST00000521096.1_Intron NM_001040875.2|NM_018972.2 NP_001035808.1|NP_061845.2 Q8TB36 GDAP1_HUMAN ganglioside induced differentiation associated protein 1 89 GST N-terminal. cytoplasm endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 10 Breast(64;0.00769) Myeloproliferative disorder(644;0.0122) BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.104)|all cancers(69;0.234) TAATTTGTGAGGCCACTCAGA 0.418000 60 65 0 0 0.014410 0 0 POLL 27343 broad.mit.edu 37 10 103345652 103345652 + Missense_Mutation SNP T T A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr10:103345652T>A ENST00000370162.3 - 3 871 c.377A>T c.(376-378)gAt>gTt p.D126V POLL_ENST00000370169.1_Missense_Mutation_p.D126V|DPCD_ENST00000470165.1_Intron|POLL_ENST00000370172.1_Missense_Mutation_p.D38V|POLL_ENST00000339310.3_Intron|POLL_ENST00000299206.4_Missense_Mutation_p.D126V|POLL_ENST00000456836.2_Intron|POLL_ENST00000436284.2_Missense_Mutation_p.D38V|POLL_ENST00000370158.3_Intron|DPCD_ENST00000416979.2_Intron NM_001174084.1|NM_001174085.1|NM_013274.3 NP_001167555.1|NP_001167556.1|NP_037406.1 Q9UGP5 DPOLL_HUMAN polymerase (DNA directed), lambda 126 BRCT. DNA replication|nucleotide-excision repair|somatic hypermutation of immunoglobulin genes nucleus DNA binding|DNA-directed DNA polymerase activity|lyase activity|metal ion binding biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(2) 19 Colorectal(252;0.234) Epithelial(162;1.55e-08)|all cancers(201;6.64e-07) TCCAGCTACATCCACCAGCCT 0.527000 DNA polymerases (catalytic subunits) 21 22 0 0 0.002780 0 0 CDH9 1007 broad.mit.edu 37 5 26988490 26988490 + Splice_Site SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr5:26988490C>T ENST00000231021.4 - 2 124 c.e2-1 NM_016279.3 NP_057363.3 Q9ULB4 CADH9_HUMAN cadherin 9, type 2 (T1-cadherin) adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 137 TTTGTTTTTCCTAAAGAGTAA 0.313000 10 3 0 0 0.006214 0 0 AFM 173 broad.mit.edu 37 4 74352687 74352687 + Missense_Mutation SNP T T G TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr4:74352687T>G ENST00000226355.3 + 5 579 c.486T>G c.(484-486)ttT>ttG p.F162L NM_001133.2 NP_001124.1 P43652 AFAM_HUMAN afamin 162 Albumin 1. vitamin transport vitamin E binding breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 32 Breast(15;0.00102) Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) TTTATAGCTTTTTATATGAAG 0.428000 25 36 0 0 0.005443 0 0 ZNF284 342909 broad.mit.edu 37 19 44590447 44590447 + Silent SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr19:44590447C>T ENST00000421176.3 + 5 1032 c.816C>T c.(814-816)tcC>tcT p.S272S ZNF223_ENST00000591793.1_3'UTR NM_001037813.2 NP_001032902.1 Q2VY69 ZN284_HUMAN zinc finger protein 284 272 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|kidney(2)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1) 15 Prostate(69;0.0435) TTCACAATTCCCAGCTTCGGG 0.393000 27 35 0 0 0.003954 0 0 DUOX2 50506 broad.mit.edu 37 15 45386440 45386440 + Missense_Mutation SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr15:45386440G>A ENST00000389039.6 - 34 4940 c.4555C>T c.(4555-4557)Cct>Tct p.P1519S DUOX2_ENST00000603300.1_Missense_Mutation_p.P1519S Q9NRD8 DUOX2_HUMAN dual oxidase 2 1519 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) ATTCCTGGAGGGCCGCAGCTG 0.567000 18 34 0 0 0.007413 0 0 ADD2 119 broad.mit.edu 37 2 70900138 70900138 + Splice_Site SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr2:70900138C>T ENST00000264436.3 - 15 2186 c.1741_splice c.e15-1 p.G581_splice ADD2_ENST00000407644.2_Splice_Site_p.G581_splice|ADD2_ENST00000355733.3_Splice_Site_p.E610_splice NM_001617.3 NP_001608.1 P35612 ADDB_HUMAN adducin 2 (beta) 581 actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding cytoplasm|F-actin capping protein complex|plasma membrane actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2) 36 TTCTTTCTCTCCTGAAAAAAC 0.458000 10 25 0 0 0.001855 0 0 PDZD3 79849 broad.mit.edu 37 11 119059486 119059486 + Silent SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr11:119059486C>T ENST00000531114.1 + 7 1944 c.1395C>T c.(1393-1395)tcC>tcT p.S465S PDZD3_ENST00000525131.1_Silent_p.S386S|PDZD3_ENST00000322712.4_Silent_p.S385S|PDZD3_ENST00000392817.2_Silent_p.S465S|PDZD3_ENST00000355547.5_Silent_p.S399S Q86UT5 NHRF4_HUMAN PDZ domain containing 3 465 cGMP-mediated signaling|ion transport|negative regulation of cGMP biosynthetic process|response to toxin|water transport apical part of cell|brush border|cytosol|membrane fraction|subapical complex guanylate cyclase inhibitor activity|ion channel inhibitor activity|protein C-terminus binding p.S385S(1) breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(4)|ovary(1) 14 all_hematologic(175;0.0977) Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;7.52e-05) CTCTTGGCTCCCGACAGTGCT 0.617000 42 44 0 0 0.011902 0 0 TMEM179 388021 broad.mit.edu 37 14 105061533 105061533 + Missense_Mutation SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr14:105061533G>A ENST00000341595.3 - 3 1396 c.491C>T c.(490-492)tCc>tTc p.S164F TMEM179_ENST00000556573.1_Missense_Mutation_p.S164F NM_207379.1 NP_997262.1 Q6ZVK1 T179A_HUMAN transmembrane protein 179 164 integral to membrane p.S164C(1) endometrium(1)|lung(2)|skin(1) 4 all cancers(16;0.00276)|OV - Ovarian serous cystadenocarcinoma(23;0.0262)|Epithelial(46;0.058)|GBM - Glioblastoma multiforme(11;0.116) Epithelial(152;0.129) GTAGAAGGCGGAGTTGTCCAC 0.582000 29 39 0 0 0.010818 0 0 MUC16 94025 broad.mit.edu 37 19 9075173 9075173 + Missense_Mutation SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr19:9075173C>T ENST00000397910.4 - 3 12476 c.12273G>A c.(12271-12273)atG>atA p.M4091I NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 4093 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding p.M4091I(4) 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 TAGCAAGGATCATTCCTCCAG 0.527000 37 35 0 0 0.003755 0 0 SCN9A 6335 broad.mit.edu 37 2 167136983 167136983 + Missense_Mutation SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr2:167136983C>T ENST00000375387.4 - 14 2570 c.2230G>A c.(2230-2232)Gat>Aat p.D744N SCN9A_ENST00000409672.1_Missense_Mutation_p.D732N|AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000303354.6_Missense_Mutation_p.D744N|SCN9A_ENST00000409435.1_Missense_Mutation_p.D743N Q15858 SCN9A_HUMAN sodium channel, voltage-gated, type IX, alpha subunit 743 voltage-gated sodium channel complex voltage-gated sodium channel activity NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 108 Lamotrigine(DB00555)|Lidocaine(DB00281) ACAAAAGGATCCATTACAATA 0.333000 10 7 0 0 0.006214 0 0 SLC13A5 284111 broad.mit.edu 37 17 6589655 6589655 + Silent SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr17:6589655C>T ENST00000433363.2 - 12 1811 c.1578G>A c.(1576-1578)gtG>gtA p.V526V SLC13A5_ENST00000573648.1_Silent_p.V480V|SLC13A5_ENST00000293800.6_Silent_p.V509V|SLC13A5_ENST00000381074.4_Silent_p.V483V NM_177550.3 NP_808218.1 Q86YT5 S13A5_HUMAN solute carrier family 13 (sodium-dependent citrate transporter), member 5 526 integral to membrane citrate transmembrane transporter activity breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|prostate(5)|skin(3)|urinary_tract(1) 26 CTCCTGTTTTCACCTGGAAAA 0.517000 22 33 0 0 0.002780 0 0 C1orf131 128061 broad.mit.edu 37 1 231362502 231362502 + Missense_Mutation SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr1:231362502C>T ENST00000318906.2 - 5 704 c.676G>A c.(676-678)Gaa>Aaa p.E226K C1orf131_ENST00000366651.3_Missense_Mutation_p.E225K|C1orf131_ENST00000366649.2_Missense_Mutation_p.E226K Q8NDD1 CA131_HUMAN chromosome 1 open reading frame 131 226 Lys-rich. breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1) 8 Breast(184;0.0871) all_cancers(173;0.2)|Prostate(94;0.183) TTTTCTTCTTCCTTTGCTGCC 0.408000 30 54 0 0 0.009535 0 0 SGMS1 259230 broad.mit.edu 37 10 52071152 52071152 + Silent SNP T T C TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr10:52071152T>C ENST00000361781.2 - 9 1724 c.765A>G c.(763-765)caA>caG p.Q255Q SGMS1_ENST00000429490.1_Silent_p.Q86Q NM_147156.3 NP_671512.1 Q86VZ5 SMS1_HUMAN sphingomyelin synthase 1 261 apoptosis|cell growth|sphingomyelin biosynthetic process endoplasmic reticulum|Golgi trans cisterna|integral to Golgi membrane|nucleus|plasma membrane ceramide cholinephosphotransferase activity|kinase activity|sphingomyelin synthase activity endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 16 TTCTTCGCAGTTGGGCTTCCC 0.453000 19 13 0 0 0.007413 0 0 PGLYRP4 57115 broad.mit.edu 37 1 153303307 153303307 + Missense_Mutation SNP C C T rs147105602 TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr1:153303307C>T ENST00000368739.3 - 9 1404 c.1046G>A c.(1045-1047)cGa>cAa p.R349Q PGLYRP4_ENST00000359650.5_Missense_Mutation_p.R353Q Q96LB8 PGRP4_HUMAN peptidoglycan recognition protein 4 353 defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process extracellular region|intracellular|membrane N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding p.R353Q(1) breast(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1) 23 all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.171) AGACAAGGTTCGGGCCACATC 0.562000 43 49 0 0 0.009718 0 0 ADD3 120 broad.mit.edu 37 10 111890164 111890164 + Missense_Mutation SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr10:111890164C>T ENST00000277900.8 + 13 2017 c.1652C>T c.(1651-1653)cCt>cTt p.P551L ADD3_ENST00000360162.3_Missense_Mutation_p.P551L|ADD3_ENST00000356080.4_Missense_Mutation_p.P551L NM_001121.2 NP_001112.2 Q9UEY8 ADDG_HUMAN adducin 3 (gamma) 551 cytoskeleton actin binding|calmodulin binding|metal ion binding|structural constituent of cytoskeleton central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(3) 29 Breast(234;0.052)|Lung NSC(174;0.223) Epithelial(162;4.15e-05)|all cancers(201;0.000587)|BRCA - Breast invasive adenocarcinoma(275;0.0742) CCAGCTCCTCCTAACCCATTT 0.348000 27 48 0 0 0.008361 0 0 FRAS1 80144 broad.mit.edu 37 4 79199862 79199862 + Silent SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr4:79199862G>A ENST00000264895.6 + 10 1475 c.1035G>A c.(1033-1035)agG>agA p.R345R FRAS1_ENST00000264899.6_Silent_p.R345R|FRAS1_ENST00000325942.6_Silent_p.R345R NM_025074.6 NP_079350.5 Q86XX4 FRAS1_HUMAN Fraser syndrome 1 345 cell communication integral to membrane|plasma membrane metal ion binding breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4) 103 GCATTTCAAGGAATGGTTATT 0.328000 18 24 0 0 0.010504 0 0 MC3R 4159 broad.mit.edu 37 20 54824280 54824280 + Silent SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 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 34 47 0 0 0.003271 0 0 LRIG1 26018 broad.mit.edu 37 3 66432709 66432709 + Missense_Mutation SNP T T A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr3:66432709T>A ENST00000383703.3 - 17 3139 c.2536A>T c.(2536-2538)Att>Ttt p.I846F LRIG1_ENST00000273261.3_Missense_Mutation_p.I869F|LRIG1_ENST00000496559.2_5'UTR|SLC25A26_ENST00000536651.1_Intron Q96JA1 LRIG1_HUMAN leucine-rich repeats and immunoglobulin-like domains 1 869 integral to membrane NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1) 42 Lung NSC(201;0.0101) BRCA - Breast invasive adenocarcinoma(55;0.00047) TTGCTCTCAATGTGCCCATTG 0.572000 43 60 0 0 0.011902 0 0 CNGA3 1261 broad.mit.edu 37 2 99012478 99012478 + Missense_Mutation SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr2:99012478C>T ENST00000393504.1 + 8 1262 c.845C>T c.(844-846)tCc>tTc p.S282F CNGA3_ENST00000436404.2_Missense_Mutation_p.S264F|CNGA3_ENST00000272602.2_Missense_Mutation_p.S282F|CNGA3_ENST00000409937.1_Missense_Mutation_p.S286F NM_001298.2 NP_001289.1 Q16281 CNGA3_HUMAN cyclic nucleotide gated channel alpha 3 282 signal transduction|visual perception integral to membrane cGMP binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3) 49 CTGAAGTTTTCCCGGCTCTTT 0.488000 19 21 0 0 0.007413 0 0 PDHX 8050 broad.mit.edu 37 11 35016516 35016516 + Missense_Mutation SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr11:35016516C>T ENST00000448838.3 + 11 1500 c.1258C>T c.(1258-1260)Cct>Tct p.P420S PDHX_ENST00000477173.3_Intron|PDHX_ENST00000430469.2_Missense_Mutation_p.P208S|PDHX_ENST00000227868.4_Missense_Mutation_p.P435S NM_001135024.1|NM_003477.2 NP_001128496.1|NP_003468.2 O00330 ODPX_HUMAN pyruvate dehydrogenase complex, component X 435 pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate mitochondrial matrix acyltransferase activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1) 16 all_epithelial(35;0.115)|Lung NSC(22;0.218)|all_lung(20;0.242) all_hematologic(20;0.124) STAD - Stomach adenocarcinoma(6;0.00113) GATTAACCCTCCTCAGGCCTG 0.498000 58 78 0 0 0.014410 0 0 TRPV6 55503 broad.mit.edu 37 7 142583159 142583159 + Missense_Mutation SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr7:142583159C>T ENST00000359396.3 - 1 348 c.103G>A c.(103-105)Gag>Aag p.E35K RP11-114L10.2_ENST00000438839.1_RNA NM_018646.3 NP_061116.2 Q9H1D0 TRPV6_HUMAN transient receptor potential cation channel, subfamily V, member 6 35 regulation of calcium ion-dependent exocytosis integral to plasma membrane calcium channel activity|calmodulin binding breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2) 42 Melanoma(164;0.059) AGGTTCTGCTCATCTCGGCTC 0.607000 37 48 0 0 0.009718 0 0 ETS2 2114 broad.mit.edu 37 21 40190484 40190484 + Missense_Mutation SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr21:40190484C>T ENST00000360214.3 + 8 1185 c.725C>T c.(724-726)tCt>tTt p.S242F ETS2_ENST00000360938.3_Missense_Mutation_p.S242F NM_001256295.1 NP_001243224.1 P15036 ETS2_HUMAN v-ets avian erythroblastosis virus E26 oncogene homolog 2 242 positive regulation of transcription, DNA-dependent|skeletal system development nucleus protein binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(2)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 18 Prostate(19;6.33e-08)|all_epithelial(19;0.123) TTCCCCAAGTCTCGGCTCAGC 0.547000 122 160 0 0 0.014410 0 0 ATP2A2 488 broad.mit.edu 37 12 110719708 110719708 + Silent SNP C C A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr12:110719708C>A ENST00000395494.2 + 1 677 c.114C>A c.(112-114)tcC>tcA p.S38S ATP2A2_ENST00000539276.2_Silent_p.S38S|ATP2A2_ENST00000552636.1_Intron|ATP2A2_ENST00000308664.6_Silent_p.S38S P16615 AT2A2_HUMAN ATPase, Ca++ transporting, cardiac muscle, slow twitch 2 38 ATP biosynthetic process|cell adhesion|epidermis development|platelet activation|sarcoplasmic reticulum calcium ion transport integral to plasma membrane|microsome|platelet dense tubular network membrane|sarcoplasmic reticulum membrane ATP binding|calcium-transporting ATPase activity|protein C-terminus binding|S100 alpha binding NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1) 38 GATGGGGCTCCAACGGTAGGT 0.677000 7 11 8.12818e-05 8.54245e-05 0.001984 1 0 DBR1 51163 broad.mit.edu 37 3 137881090 137881090 + Missense_Mutation SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr3:137881090G>A ENST00000260803.4 - 8 1429 c.1276C>T c.(1276-1278)Cca>Tca p.P426S DBR1_ENST00000505015.2_Missense_Mutation_p.P192S NM_016216.3 NP_057300.2 Q9UK59 DBR1_HUMAN debranching RNA lariats 1 426 nucleus metal ion binding|RNA lariat debranching enzyme activity NS(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1) 15 ATTTCATCTGGATTAATAGAA 0.383000 228 289 0 0 0.014410 0 0 CR1 1378 broad.mit.edu 37 1 207700144 207700144 + Silent SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr1:207700144G>A ENST00000367049.4 + 6 933 c.933G>A c.(931-933)agG>agA p.R311R CR1_ENST00000367053.1_Silent_p.R311R|CR1_ENST00000367051.1_Intron|CR1_ENST00000367052.1_Silent_p.R311R|CR1_ENST00000400960.2_Silent_p.R311R|CR1_ENST00000367050.4_Intron NM_000651.4 NP_000642.3 P17927 CR1_HUMAN complement component (3b/4b) receptor 1 (Knops blood group) 311 Sushi 5. complement activation, classical pathway|innate immune response integral to plasma membrane complement receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 82 GTACCCAAAGGGACAAGGACA 0.527000 71 139 0 0 0.014410 0 0 RFX6 222546 broad.mit.edu 37 6 117248364 117248364 + Missense_Mutation SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr6:117248364C>T ENST00000332958.2 + 17 2076 c.2060C>T c.(2059-2061)cCc>cTc p.P687L NM_173560.3 NP_775831.2 Q8HWS3 RFX6_HUMAN regulatory factor X, 6 687 glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation nucleus protein binding|transcription regulatory region DNA binding p.P687L(1) cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 59 CCCATTTATCCCACTCTCCCT 0.522000 34 49 0 0 0.003271 0 0 DHRS7C 201140 broad.mit.edu 37 17 9680581 9680581 + Missense_Mutation SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr17:9680581G>A ENST00000330255.4 - 4 515 c.503C>T c.(502-504)tCc>tTc p.S168F DHRS7C_ENST00000571134.1_Missense_Mutation_p.S167F NM_001220493.1 NP_001207422.1 A6NNS2 DRS7C_HUMAN dehydrogenase/reductase (SDR family) member 7C 168 extracellular region binding|oxidoreductase activity NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9) 15 TGTTCTCCGGGAGATCATGTT 0.473000 8 13 0 0 0.004482 0 0 GRIP2 80852 broad.mit.edu 37 3 14554361 14554361 + RNA SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr3:14554361G>A ENST00000273083.3 - 0 1708 Q9C0E4 GRIP2_HUMAN glutamate receptor interacting protein 2 synaptic transmission cytosol|plasma membrane protein binding endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1) 25 TTGGGATGACGGACTCTGGGG 0.612000 23 39 0 0 0.003954 0 0 LOXL4 84171 broad.mit.edu 37 10 100016611 100016611 + Missense_Mutation SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr10:100016611C>T ENST00000260702.3 - 9 1504 c.1354G>A c.(1354-1356)Gaa>Aaa p.E452K NM_032211.6 NP_115587.6 Q96JB6 LOXL4_HUMAN lysyl oxidase-like 4 452 SRCR 4. extracellular space|membrane copper ion binding|protein binding|scavenger receptor activity breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(8)|ovary(4)|prostate(1)|skin(2) 26 Colorectal(252;0.234) Epithelial(162;2.14e-11)|all cancers(201;2.49e-09) CCCCAGTTTTCACTGCACACG 0.617000 33 35 0 0 0.003271 0 0 AAMDC 28971 broad.mit.edu 37 11 77553552 77553552 + Missense_Mutation SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr11:77553552C>T ENST00000527134.1 + 3 158 c.10C>T c.(10-12)Cct>Tct p.P4S AAMDC_ENST00000533193.1_Missense_Mutation_p.P4S|AAMDC_ENST00000304716.8_Missense_Mutation_p.P4S|AAMDC_ENST00000393427.2_Missense_Mutation_p.P4S|AAMDC_ENST00000526415.1_Missense_Mutation_p.P4S|AAMDC_ENST00000532481.1_Missense_Mutation_p.P4S|RP11-91P24.7_ENST00000525594.1_RNA|AAMDC_ENST00000525409.1_Missense_Mutation_p.P4S|AAMDC_ENST00000525034.1_Missense_Mutation_p.P23S adipogenesis associated, Mth938 domain containing TATGACTTCCCCTGAAATTGC 0.373000 23 25 0 0 0.002780 0 0 AHNAK 79026 broad.mit.edu 37 11 62303492 62303492 + Nonsense_Mutation SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr11:62303492G>A ENST00000378024.4 - 3 353 c.79C>T c.(79-81)Cag>Tag p.Q27* AHNAK_ENST00000530124.1_Nonsense_Mutation_p.Q27*|AHNAK_ENST00000257247.7_Nonsense_Mutation_p.Q27* NM_001620.1 NP_001611.1 Q09666 AHNK_HUMAN AHNAK nucleoprotein 27 PDZ. nervous system development nucleus protein binding NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 268 Melanoma(852;0.155) TCGTCCCTCTGGGCGATGGTC 0.642000 21 23 0 0 0.003330 0 0 COL3A1 1281 broad.mit.edu 37 2 189861125 189861125 + Splice_Site SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr2:189861125G>A ENST00000304636.3 + 24 1834 c.1662_splice c.e24-1 p.G555_splice COL3A1_ENST00000317840.5_Splice_Site_p.G555_splice NM_000090.3 NP_000081.1 P02461 CO3A1_HUMAN collagen, type III, alpha 1 555 Triple-helical region. axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway collagen type III|extracellular space extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3) 126 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141) Collagenase(DB00048)|Palifermin(DB00039) TCTTATTAGGGAAGTCAAGGA 0.423000 12 28 0 0 0.013537 0 0 TSKS 60385 broad.mit.edu 37 19 50247522 50247522 + Missense_Mutation SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr19:50247522G>A ENST00000246801.3 - 8 1409 c.1327C>T c.(1327-1329)Cgg>Tgg p.R443W TSKS_ENST00000358830.3_Missense_Mutation_p.R243W NM_021733.1 NP_068379.1 Q9UJT2 TSKS_HUMAN testis-specific serine kinase substrate 443 protein binding breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3) 38 all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728) OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145) TGGTGGGACCGATCCAGGTTC 0.592000 27 32 0 0 0.004656 0 0 CNKSR2 22866 broad.mit.edu 37 X 21627525 21627525 + Missense_Mutation SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chrX:21627525G>A ENST00000425654.2 + 19 2872 c.2392G>A c.(2392-2394)Gag>Aag p.E798K CNKSR2_ENST00000279451.4_Missense_Mutation_p.E828K|CNKSR2_ENST00000379510.3_Missense_Mutation_p.E828K|CNKSR2_ENST00000543067.1_Missense_Mutation_p.E779K NM_001168647.1 NP_001162118.1 Q8WXI2 CNKR2_HUMAN connector enhancer of kinase suppressor of Ras 2 828 regulation of signal transduction cytoplasm|membrane protein binding breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3) 61 CCCCTTAGCTGAGAGTGAGAG 0.552000 38 2 0 0 0.008740 0 0 UBE2Q2P1 388165 broad.mit.edu 37 15 85098251 85098251 + RNA SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr15:85098251G>A ENST00000339094.1 - 0 1341 NR_003661.2 GCTTAGGAAGGTTATATAATC 0.378000 4 7 0 0 0.009096 0 0 TENM3 55714 broad.mit.edu 37 4 183600840 183600840 + Missense_Mutation SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr4:183600840G>A ENST00000511685.1 + 8 1471 c.1348G>A c.(1348-1350)Gat>Aat p.D450N TENM3_ENST00000406950.2_Missense_Mutation_p.D450N teneurin transmembrane protein 3 GGAGCTCCTGGATGGCAGCAG 0.537000 30 37 0 0 0.009535 0 0 UHMK1 127933 broad.mit.edu 37 1 162487890 162487890 + Splice_Site SNP A A G TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr1:162487890A>G ENST00000489294.1 + 7 1182 c.e7-1 UHMK1_ENST00000282169.8_Splice_Site|UHMK1_ENST00000545294.1_Splice_Site|UHMK1_ENST00000538489.1_Intron NM_175866.4 NP_787062.1 Q8TAS1 UHMK1_HUMAN U2AF homology motif (UHM) kinase 1 cell cycle arrest|neuron projection development|peptidyl-serine phosphorylation|positive regulation of translational initiation|protein autophosphorylation|regulation of protein export from nucleus axon|dendrite cytoplasm|neuronal RNA granule|nucleus protein binding|protein serine/threonine kinase activity|ribonucleoprotein binding|RNA binding endometrium(1)|large_intestine(2)|lung(6)|prostate(2) 11 all_hematologic(112;0.115) BRCA - Breast invasive adenocarcinoma(70;0.126) TTTAATAATCAGATGTTGTAG 0.308000 14 17 0 0 0.003163 0 0 CDC42BPA 8476 broad.mit.edu 37 1 227192753 227192753 + Silent SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr1:227192753G>A ENST00000366769.3 - 34 6103 c.4812C>T c.(4810-4812)atC>atT p.I1604I CDC42BPA_ENST00000334218.5_Silent_p.I1666I|CDC42BPA_ENST00000366764.2_Silent_p.I1576I|CDC42BPA_ENST00000366767.3_Silent_p.I1523I|CDC42BPA_ENST00000366766.2_Silent_p.I1639I|CDC42BPA_ENST00000366765.3_Silent_p.I1617I|CDC42BPA_ENST00000535525.1_Silent_p.I1584I NM_003607.3 NP_003598.2 Q5VT25 MRCKA_HUMAN CDC42 binding protein kinase alpha (DMPK-like) 1617 actin cytoskeleton reorganization|intracellular signal transduction cell leading edge|cell-cell junction|cytoplasm ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2) 77 all_cancers(173;0.156)|Prostate(94;0.0792) GGGATTTGGTGATAGATGGAA 0.532000 30 44 0 0 0.007291 0 0 NCKAP1L 3071 broad.mit.edu 37 12 54905807 54905807 + Missense_Mutation SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr12:54905807G>A ENST00000293373.6 + 9 938 c.859G>A c.(859-861)Ggc>Agc p.G287S NCKAP1L_ENST00000552211.1_3'UTR|NCKAP1L_ENST00000545638.2_Missense_Mutation_p.G237S NM_005337.4 NP_005328.2 P55160 NCKPL_HUMAN NCK-associated protein 1-like 287 actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis cytosol|integral to plasma membrane|membrane fraction|SCAR complex protein complex binding|protein kinase activator activity|Rac GTPase activator activity NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2) 80 GTGTCTGCAGGGCTCCCTCTA 0.532000 32 38 0 0 0.003755 0 0 KIAA0513 9764 broad.mit.edu 37 16 85100992 85100992 + Silent SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr16:85100992G>A ENST00000566428.1 + 2 946 c.315G>A c.(313-315)aaG>aaA p.K105K KIAA0513_ENST00000567328.1_Silent_p.K105K|KIAA0513_ENST00000258180.3_Silent_p.K105K|KIAA0513_ENST00000538274.1_Silent_p.K105K O60268 K0513_HUMAN KIAA0513 105 cytoplasm breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(9)|pancreas(1) 18 BRCA - Breast invasive adenocarcinoma(80;0.234) ACGTGGAGAAGATCTTCTCTG 0.622000 24 21 0 0 0.002780 0 0 AUTS2 26053 broad.mit.edu 37 7 70252365 70252365 + Missense_Mutation SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr7:70252365G>A ENST00000342771.4 + 18 2800 c.2479G>A c.(2479-2481)Gat>Aat p.D827N AUTS2_ENST00000406775.2_Missense_Mutation_p.D803N NM_015570.2 NP_056385.1 Q8WXX7 AUTS2_HUMAN autism susceptibility candidate 2 827 breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1) 50 all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093) LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186) TCATGACAGAGATAGAGATGT 0.582000 24 10 0 0 0.004656 0 0 ABCC9 10060 broad.mit.edu 37 12 22001151 22001151 + Silent SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr12:22001151C>T ENST00000261200.4 - 23 2798 c.2799G>A c.(2797-2799)gaG>gaA p.E933E RP11-729I10.2_ENST00000539874.1_RNA|ABCC9_ENST00000345162.2_Silent_p.E897E|ABCC9_ENST00000261201.4_Silent_p.E933E NM_020297.2 NP_064693.2 O60706 ABCC9_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 9 933 defense response to virus|potassium ion import ATP-sensitive potassium channel complex ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5) 118 Adenosine triphosphate(DB00171)|Glibenclamide(DB01016) GAGTTTTCCTCTCTAAAGTAG 0.413000 28 51 0 0 0.012213 0 0 MGAM 8972 broad.mit.edu 37 7 141765557 141765557 + Missense_Mutation SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr7:141765557G>A ENST00000475668.2 + 40 4750 c.4696G>A c.(4696-4698)Gag>Aag p.E1566K MGAM_ENST00000549489.2_Intron O43451 MGA_HUMAN maltase-glucoamylase (alpha-glucosidase) 1566 Glucoamylase. polysaccharide digestion|starch catabolic process apical plasma membrane|integral to membrane carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2) 13 Melanoma(164;0.0272) Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878) CGCTGAGTACGAGATGTGTGT 0.498000 12 23 0 0 0.001855 0 0 NF1 4763 broad.mit.edu 37 17 29483086 29483086 + Missense_Mutation SNP A A T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr17:29483086A>T ENST00000358273.4 + 2 529 c.146A>T c.(145-147)tAc>tTc p.Y49F NF1_ENST00000356175.3_Missense_Mutation_p.Y49F|NF1_ENST00000431387.4_Missense_Mutation_p.Y49F NM_001042492.2 NP_001035957.1 P21359 NF1_HUMAN neurofibromin 1 49 actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus protein binding|Ras GTPase activator activity p.0?(8)|p.?(3) NF1/ACCN1(2) autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9) 599 all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659) UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146) ATTTCCAAATACAAGTTTTCT 0.338000 """D, Mis, N, F, S, O""" """neurofibroma, glioma""" """neurofibroma, glioma""" Neurofibromatosis, type 1 TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088) 17 38 0 0 0.004990 0 0 CCDC148 130940 broad.mit.edu 37 2 159107317 159107317 + Silent SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr2:159107317C>T ENST00000283233.5 - 10 1531 c.1218G>A c.(1216-1218)aaG>aaA p.K406K CCDC148_ENST00000409187.1_Silent_p.K415K NM_138803.3 NP_620158.3 Q8NFR7 CC148_HUMAN coiled-coil domain containing 148 406 Glu/Lys-rich. endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 23 gcaacaattccttcttcttcc 0.388000 5 6 0 0 0.000602 0 0 CYP2C19 1557 broad.mit.edu 37 10 96540392 96540392 + Silent SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr10:96540392G>A ENST00000371321.3 + 4 700 c.618G>A c.(616-618)agG>agA p.R206R CYP2C19_ENST00000464755.1_3'UTR NM_000769.1 NP_000760.1 P33261 CP2CJ_HUMAN cytochrome P450, family 2, subfamily C, polypeptide 19 206 exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome (S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 43 Colorectal(252;0.09) all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838) Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582) AAAACATCAGGATTGTAAGCA 0.373000 28 50 0 0 0.008361 0 0 DNAH17 8632 broad.mit.edu 37 17 76455103 76455103 + Missense_Mutation SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr17:76455103G>A ENST00000389840.5 - 61 9923 c.9799C>T c.(9799-9801)Cgg>Tgg p.R3267W DNAH17_ENST00000585328.1_Missense_Mutation_p.R3276W|DNAH17_ENST00000586052.1_5'UTR dynein, axonemal, heavy chain 17 NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 116 BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656) TTTTTGATCCGGGACAGCTTC 0.582000 37 51 0 0 0.003271 0 0 SF3B6 51639 broad.mit.edu 37 2 24290698 24290698 + Silent SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr2:24290698C>T ENST00000233468.4 - 4 525 c.312G>A c.(310-312)aaG>aaA p.K104K NM_016047.3 NP_057131.1 Q9Y3B4 PM14_HUMAN 104 nuclear mRNA splicing, via spliceosome nucleoplasm|U12-type spliceosomal complex nucleotide binding|protein binding|RNA binding NS(1)|kidney(1)|large_intestine(1)|lung(1) 4 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CCTCCTTCTTCTTTGTGTCCA 0.353000 48 60 0 0 0.014410 0 0 INO80 54617 broad.mit.edu 37 15 41372096 41372096 + Missense_Mutation SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr15:41372096G>A ENST00000361937.3 - 9 1358 c.934C>T c.(934-936)Cac>Tac p.H312Y INO80_ENST00000401393.3_Missense_Mutation_p.H312Y Q9ULG1 INO80_HUMAN INO80 complex subunit 312 Assembles INO80 complex module consisting of conserved components ACTR8, ACTL6A and YY1.|DBINO. cell division|cellular response to ionizing radiation|cellular response to UV|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of cell growth|positive regulation of DNA replication involved in S phase|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly|UV-damage excision repair Ino80 complex|microtubule actin binding|alpha-tubulin binding|ATP binding|ATPase activity|DNA binding|DNA helicase activity NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 ATGCACTGGTGAGCAAGCTGA 0.527000 57 89 0 0 0.014410 0 0 CDH16 1014 broad.mit.edu 37 16 66948226 66948226 + Missense_Mutation SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr16:66948226C>T ENST00000299752.4 - 7 866 c.673G>A c.(673-675)Gcc>Acc p.A225T CDH16_ENST00000570262.1_Missense_Mutation_p.A145T|CDH16_ENST00000568632.1_Missense_Mutation_p.A128T|CDH16_ENST00000565796.1_Missense_Mutation_p.A225T|CDH16_ENST00000394055.3_Missense_Mutation_p.A225T NM_001204744.1|NM_001204745.1|NM_004062.3 NP_001191673.1|NP_001191674.1|NP_004053.1 O75309 CAD16_HUMAN cadherin 16, KSP-cadherin 225 Cadherin 2. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 41 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203) GTGGCAGTGGCCTGGTGGCCT 0.587000 39 52 0 0 0.006999 0 0 PML 5371 broad.mit.edu 37 15 74290467 74290467 + Silent SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr15:74290467G>A ENST00000565898.1 + 2 336 c.252G>A c.(250-252)tcG>tcA p.S84S PML_ENST00000564428.1_Silent_p.S84S|PML_ENST00000436891.3_Silent_p.S84S|PML_ENST00000435786.2_Silent_p.S84S|PML_ENST00000395132.2_Silent_p.S84S|PML_ENST00000395135.3_Silent_p.S84S|PML_ENST00000359928.4_Silent_p.S84S|PML_ENST00000354026.6_Silent_p.S84S|PML_ENST00000268058.3_Silent_p.S84S|PML_ENST00000563500.1_Silent_p.S84S|PML_ENST00000268059.6_Silent_p.S84S|PML_ENST00000569965.1_Silent_p.S84S|PML_ENST00000569477.1_Silent_p.S84S|PML_ENST00000567543.1_Silent_p.S84S P29590 PML_HUMAN promyelocytic leukemia 84 cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction resulting in induction of apoptosis|endoplasmic reticulum calcium ion homeostasis|induction of apoptosis|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|maintenance of protein location in nucleus|negative regulation of angiogenesis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of mitotic cell cycle|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|negative regulation of telomerase activity|negative regulation of telomere maintenance via telomerase|negative regulation of transcription, DNA-dependent|negative regulation of translation in response to oxidative stress|PML body organization|positive regulation of defense response to virus by host|positive regulation of histone deacetylation|protein complex assembly|protein stabilization|protein targeting|regulation of calcium ion transport into cytosol|regulation of protein phosphorylation|response to hypoxia|response to virus|transcription, DNA-dependent cytoplasm|cytosol|early endosome membrane|extrinsic to endoplasmic reticulum membrane|insoluble fraction|nuclear matrix|nuclear membrane|nucleolus|nucleus|PML body cobalt ion binding|DNA binding|protein binding|protein heterodimerization activity|protein homodimerization activity|SUMO binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding p.S84S(3) breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 31 TGGAGGCGTCGGGCATGCAGT 0.642000 T """RARA, PAX5""" """APL, ALL""" 27 26 0 0 0.006320 0 0 KHDC3L 154288 broad.mit.edu 37 6 74072820 74072820 + Missense_Mutation SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr6:74072820C>T ENST00000370367.3 + 2 225 c.172C>T c.(172-174)Cgg>Tgg p.R58W NM_001017361.2 NP_001017361.1 KH domain containing 3-like, subcortical maternal complex member CCGCGCAGGCCGGGGCGGAGA 0.612000 15 42 0 0 0.002450 0 0 BRD4 23476 broad.mit.edu 37 19 15366341 15366341 + Missense_Mutation SNP T T A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr19:15366341T>A ENST00000263377.2 - 10 2035 c.1814A>T c.(1813-1815)gAc>gTc p.D605V BRD4_ENST00000371835.4_Missense_Mutation_p.D605V|BRD4_ENST00000360016.5_Missense_Mutation_p.D605V NM_058243.2 NP_490597.1 O60885 BRD4_HUMAN bromodomain containing 4 605 interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle condensed nuclear chromosome|cytoplasm protein binding breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1) 21 OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18) CTTGCACTTGTCCTCTTCCTC 0.592000 T C15orf55 lethal midline carcinoma of young people 60 73 0 0 0.014410 0 0 ZNF761 388561 broad.mit.edu 37 19 53959621 53959621 + RNA SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr19:53959621C>T ENST00000454407.1 + 0 2313 Q86XN6 ZN761_HUMAN zinc finger protein 761 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 30 GBM - Glioblastoma multiforme(134;0.00786) GGACGTCATCCCTTACATGCC 0.398000 29 58 0 0 0.010818 0 0 NPEPPS 9520 broad.mit.edu 37 17 45669398 45669398 + Missense_Mutation SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr17:45669398G>A ENST00000322157.4 + 11 1574 c.1337G>A c.(1336-1338)cGa>cAa p.R446Q NPEPPS_ENST00000525037.1_3'UTR|NPEPPS_ENST00000544660.1_Missense_Mutation_p.R366Q|NPEPPS_ENST00000530173.1_Missense_Mutation_p.R442Q NM_006310.3 NP_006301.3 P55786 PSA_HUMAN aminopeptidase puromycin sensitive 446 proteolysis cytosol|nucleus aminopeptidase activity|metallopeptidase activity|protein binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 27 TCTGTCATCCGAATGCTGCAT 0.373000 6 40 0 0 0.004482 0 0 ANO5 203859 broad.mit.edu 37 11 22257768 22257768 + Silent SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr11:22257768G>A ENST00000324559.8 + 8 1025 c.708G>A c.(706-708)ggG>ggA p.G236G NM_001142649.1|NM_213599.2 NP_001136121.1|NP_998764.1 Q75V66 ANO5_HUMAN anoctamin 5 236 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 AAAGGTTTGGGATTGAAAGAC 0.388000 18 24 0 0 0.003954 0 0 TTN 7273 broad.mit.edu 37 2 179453361 179453361 + Missense_Mutation SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr2:179453361C>T ENST00000589042.1 - 304 63315 c.63091G>A c.(63091-63093)Gac>Aac p.D21031N TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.D12091N|TTN_ENST00000342175.6_Missense_Mutation_p.D12158N|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.D19390N|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D18463N|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.D11966N NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 19390 Fibronectin type-III 52. 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) TATTCATGGTCTGGGAGGAGA 0.448000 81 128 0 0 0.014410 0 0 PRX 57716 broad.mit.edu 37 19 40903777 40903777 + Missense_Mutation SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr19:40903777G>A ENST00000324001.7 - 7 752 c.482C>T c.(481-483)cCc>cTc p.P161L PRX_ENST00000291825.7_3'UTR NM_181882.2 NP_870998.2 Q9BXM0 PRAX_HUMAN periaxin 161 Arg/Lys-rich (basic). axon ensheathment cytoplasm|nucleus|plasma membrane protein binding breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9) 47 Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384) GGAGAACTTGGGAAAGGAGAA 0.662000 12 13 0 0 0.013537 0 0 AMER3 205147 broad.mit.edu 37 2 131521642 131521642 + Missense_Mutation SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr2:131521642C>T ENST00000423981.1 + 2 2107 c.1997C>T c.(1996-1998)aCt>aTt p.T666I AMER3_ENST00000321420.4_Missense_Mutation_p.T666I 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 GGAGGTGACACTCTGGATGCA 0.657000 10 16 0 0 0.006214 0 0 FLNC 2318 broad.mit.edu 37 7 128478071 128478071 + Missense_Mutation SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr7:128478071C>T ENST00000325888.8 + 6 1261 c.1000C>T c.(1000-1002)Cgc>Tgc p.R334C FLNC_ENST00000346177.6_Missense_Mutation_p.R334C NM_001458.4 NP_001449.3 Q14315 FLNC_HUMAN filamin C, gamma 334 cell junction assembly cytoskeleton|cytosol|plasma membrane|sarcomere actin binding biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2) 128 TGACAAGGATCGCACCTATGC 0.537000 24 38 0 0 0.005443 0 0 GUCY2F 2986 broad.mit.edu 37 X 108641814 108641814 + Missense_Mutation SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chrX:108641814C>T ENST00000218006.2 - 11 2530 c.2239G>A c.(2239-2241)Ggt>Agt p.G747S NM_001522.2 NP_001513.2 P51841 GUC2F_HUMAN guanylate cyclase 2F, retinal 747 Protein kinase. intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception integral to plasma membrane|nuclear outer membrane ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1) 67 AATGGGGTACCCCGGACCATC 0.537000 32 4 0 0 0.009535 0 0 SCN10A 6336 broad.mit.edu 37 3 38739366 38739366 + Missense_Mutation SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr3:38739366C>T ENST00000449082.2 - 27 5344 c.5345G>A c.(5344-5346)cGa>cAa p.R1782Q NM_006514.2 NP_006505.2 Q9Y5Y9 SCNAA_HUMAN sodium channel, voltage-gated, type X, alpha subunit 1782 sensory perception voltage-gated sodium channel complex NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 150 KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945) Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296) CAGTATATTTCGATTGGGTTT 0.473000 19 32 0 0 0.006122 0 0 SDK1 221935 broad.mit.edu 37 7 4091411 4091411 + Missense_Mutation SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr7:4091411C>T ENST00000404826.2 + 19 2999 c.2860C>T c.(2860-2862)Cct>Tct p.P954S SDK1_ENST00000389531.3_Missense_Mutation_p.P954S NM_152744.3 NP_689957.3 Q7Z5N4 SDK1_HUMAN sidekick cell adhesion molecule 1 954 Fibronectin type-III 3. cell adhesion integral to membrane NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4) 153 all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194) UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15) CTTCACCACCCCTGGGGACGG 0.527000 42 69 0 0 0.013114 0 0 KCNN2 3781 broad.mit.edu 37 5 113740319 113740319 + Missense_Mutation SNP T T A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr5:113740319T>A ENST00000512097.3 + 4 1785 c.767T>A c.(766-768)aTt>aAt p.I256N KCNN2_ENST00000507750.1_Intron|KCNN2_ENST00000264773.3_Missense_Mutation_p.I256N Q9H2S1 KCNN2_HUMAN potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2 256 integral to membrane calmodulin binding|small conductance calcium-activated potassium channel activity breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206) OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195) GATGTGGATATTATTTTATCT 0.438000 40 6 0 0 0.006999 0 0 PSMC3 5702 broad.mit.edu 37 11 47446711 47446711 + Silent SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr11:47446711C>T ENST00000298852.3 - 3 403 c.246G>A c.(244-246)gtG>gtA p.V82V PSMC3_ENST00000602866.1_Silent_p.V66V|PSMC3_ENST00000530912.1_Intron NM_002804.4 NP_002795.2 P17980 PRS6A_HUMAN proteasome (prosome, macropain) 26S subunit, ATPase, 3 82 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction cytoplasm|nucleus|proteasome complex ATP binding|nucleoside-triphosphatase activity|protein binding|transcription coactivator activity|transcription corepressor activity breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(4)|urinary_tract(1) 17 Lung(87;0.0932)|BRCA - Breast invasive adenocarcinoma(625;0.13) GGGTCTTGTTCACTTTGATTT 0.507000 33 47 0 0 0.003755 0 0 C12orf36 283422 broad.mit.edu 37 12 13526349 13526349 + Missense_Mutation SNP G G A rs143075618 byFrequency TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr12:13526349G>A ENST00000318426.2 - 3 423 c.206C>T c.(205-207)tCg>tTg p.S69L C12orf36_ENST00000527705.2_Missense_Mutation_p.S69L chromosome 12 open reading frame 36 lung(3)|skin(3) 6 BRCA - Breast invasive adenocarcinoma(232;0.198) TCCAGGGAACGATTCCTCATT 0.453000 32 35 0 0 0.010818 0 0 SCAP 22937 broad.mit.edu 37 3 47470026 47470026 + Silent SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr3:47470026G>A ENST00000265565.5 - 4 799 c.387C>T c.(385-387)atC>atT p.I129I SCAP_ENST00000441517.2_Intron|SCAP_ENST00000545718.1_Intron NM_012235.2 NP_036367.2 Q12770 SCAP_HUMAN SREBF chaperone 129 cholesterol metabolic process|negative regulation of cholesterol biosynthetic process|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of transcription via sterol regulatory element binding involved in ER-nuclear sterol response pathway endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane unfolded protein binding endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 26 BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679) CGTGGTTCCGGATCTCCTCCA 0.527000 68 80 0 0 0.014410 0 0 TSHZ2 128553 broad.mit.edu 37 20 51871598 51871598 + Missense_Mutation SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr20:51871598G>A ENST00000371497.5 + 2 2488 c.1601G>A c.(1600-1602)gGg>gAg p.G534E TSHZ2_ENST00000603338.2_Missense_Mutation_p.G531E|TSHZ2_ENST00000329613.6_Missense_Mutation_p.G531E NM_001193421.1|NM_173485.5 NP_001180350.1|NP_775756.3 Q9NRE2 TSH2_HUMAN teashirt zinc finger homeobox 2 534 multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 84 STAD - Stomach adenocarcinoma(23;0.1) GCCCAAAACGGGGCCCCCAGC 0.552000 30 39 0 0 0.008361 0 0 OR14A16 284532 broad.mit.edu 37 1 247978344 247978344 + Missense_Mutation SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr1:247978344C>T ENST00000357627.1 - 1 687 c.688G>A c.(688-690)Gaa>Aaa p.E230K NM_001001966.1 NP_001001966.1 Q8NHC5 O14AG_HUMAN olfactory receptor, family 14, subfamily A, member 16 230 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(32)|skin(2)|stomach(1) 45 GACTGGCCTTCTGTGGAAGGG 0.408000 15 14 0 0 0.004007 0 0 EGFR 1956 broad.mit.edu 37 7 55211097 55211097 + Missense_Mutation SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr7:55211097G>A ENST00000275493.2 + 3 517 c.340G>A c.(340-342)Gaa>Aaa p.E114K EGFR_ENST00000344576.2_Missense_Mutation_p.E114K|EGFR_ENST00000420316.2_Missense_Mutation_p.E114K|EGFR_ENST00000342916.3_Missense_Mutation_p.E114K|EGFR_ENST00000442591.1_Missense_Mutation_p.E114K|EGFR_ENST00000455089.1_Missense_Mutation_p.E114K|EGFR_ENST00000454757.2_Missense_Mutation_p.E61K NM_005228.3 NP_005219.2 P00533 EGFR_HUMAN epidermal growth factor receptor 114 activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity p.E114K(2) NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6) 14110 all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318) GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607) Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072) TATGTACTACGAAAATTCCTA 0.458000 8 """A, O, Mis""" """glioma, NSCLC""" NSCLC Lung Cancer, Familial Clustering of TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08) 27 51 0 0 0.005443 0 0 BACH2 60468 broad.mit.edu 37 6 90642343 90642343 + Silent SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr6:90642343C>T ENST00000257749.4 - 9 3017 c.2310G>A c.(2308-2310)ttG>ttA p.L770L BACH2_ENST00000343122.3_Silent_p.L770L|BACH2_ENST00000537989.1_Silent_p.L770L NM_021813.2 NP_068585.1 Q9BYV9 BACH2_HUMAN BTB and CNC homology 1, basic leucine zipper transcription factor 2 770 nucleus protein dimerization activity|sequence-specific DNA binding central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1) 45 all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063) BRCA - Breast invasive adenocarcinoma(108;0.0799) CGCCTGGCTCCAAGCAGCAGG 0.642000 40 37 0 0 0.005524 0 0 KRT40 125115 broad.mit.edu 37 17 39140424 39140424 + Silent SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr17:39140424G>A ENST00000377755.4 - 1 136 c.102C>T c.(100-102)ctC>ctT p.L34L KRT40_ENST00000398486.2_Silent_p.L34L Q6A162 K1C40_HUMAN keratin 40 34 Head. intermediate filament structural molecule activity endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1) 9 Breast(137;0.00043) AGGTACCGGGGAGACAAGCTG 0.577000 24 19 0 0 0.003954 0 0 TNC 3371 broad.mit.edu 37 9 117798450 117798450 + Silent SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr9:117798450C>T ENST00000350763.4 - 21 5994 c.5583G>A c.(5581-5583)acG>acA p.T1861T TNC_ENST00000341037.4_Silent_p.T1679T|TNC_ENST00000340094.3_Silent_p.T1497T|TNC_ENST00000542877.1_Silent_p.T1498T|TNC_ENST00000423613.2_Silent_p.T1588T|TNC_ENST00000346706.3_Silent_p.T1315T|TNC_ENST00000535648.1_Silent_p.T1406T|TNC_ENST00000537320.1_Silent_p.T1224T|TNC_ENST00000345230.3_Silent_p.T1224T NM_002160.3 NP_002151.2 P24821 TENA_HUMAN tenascin C 1861 Fibronectin type-III 14. cell adhesion|response to wounding|signal transduction extracellular space receptor binding|syndecan binding NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 120 GTGTGTATTCCGTGGCAGGCT 0.502000 39 64 0 0 0.006230 0 0 CHRNA9 55584 broad.mit.edu 37 4 40351400 40351400 + Silent SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr4:40351400C>T ENST00000310169.2 + 4 1006 c.867C>T c.(865-867)atC>atT p.I289I NM_017581.3 NP_060051.2 Q9UGM1 ACHA9_HUMAN cholinergic receptor, nicotinic, alpha 9 (neuronal) 289 elevation of cytosolic calcium ion concentration|synaptic transmission cell junction|postsynaptic membrane calcium channel activity|receptor activity breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(4)|stomach(1) 33 Nicotine(DB00184) TGGCAGAAATCATGCCGGCCT 0.512000 58 62 0 0 0.014410 0 0 NRAS 4893 broad.mit.edu 37 1 115256530 115256530 + Missense_Mutation SNP G G T rs121913254 TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr1:115256530G>T ENST00000369535.4 - 3 434 c.181C>A c.(181-183)Caa>Aaa p.Q61K 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.Q61K(595)|p.Q61E(9)|p.Q61L(3)|p.Q61R(2)|p.G60>?(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) TACTCTTCTTGTCCAGCTGTA 0.458000 Q61K(CHP212_AUTONOMIC_GANGLIA)|Q61K(HCC15_LUNG)|Q61K(HS936T_SKIN)|Q61K(HS944T_SKIN)|Q61K(HT1080_SOFT_TISSUE)|Q61K(HUT78_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(M07E_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(NCIH1299_LUNG)|Q61K(NCIH2087_LUNG)|Q61K(OCILY19_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(SKNAS_AUTONOMIC_GANGLIA)|Q61K(SKNSH_AUTONOMIC_GANGLIA)|Q61K(TYKNU_OVARY) 50 Mis """melanoma, MM, AML, thyroid""" Noonan syndrome TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6) 144 19 7.99487e-62 8.62984e-62 0.014410 1 0 BTG1 694 broad.mit.edu 37 12 92539259 92539259 + Missense_Mutation SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr12:92539259G>A ENST00000256015.3 - 1 414 c.53C>T c.(52-54)gCc>gTc p.A18V NM_001731.2 NP_001722.1 P62324 BTG1_HUMAN B-cell translocation gene 1, anti-proliferative 18 cell migration|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of angiogenesis|positive regulation of endothelial cell differentiation|positive regulation of myoblast differentiation|regulation of apoptosis|regulation of transcription, DNA-dependent cytoplasm|nucleus kinase binding|transcription cofactor activity haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(1)|lung(2) 16 Acute lymphoblastic leukemia(6;3.02e-13)|all_hematologic(6;4.32e-09) GAAGGACACGGCGGCGGCGAT 0.706000 T MYC BCLL 41 51 0 0 0.011902 0 0 PNLIPRP1 5407 broad.mit.edu 37 10 118368581 118368581 + Missense_Mutation SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr10:118368581G>A ENST00000528052.1 + 13 1428 c.1357G>A c.(1357-1359)Gaa>Aaa p.E453K PNLIPRP1_ENST00000358834.4_Missense_Mutation_p.E453K|PNLIPRP1_ENST00000534537.1_Missense_Mutation_p.E453K P54315 LIPR1_HUMAN pancreatic lipase-related protein 1 453 PLAT. lipid metabolic process calcium ion binding|triglyceride lipase activity breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 38 all cancers(201;0.0161) CTTCTGTAGCGAAGACACAGT 0.507000 24 42 0 0 0.004656 0 0 TAOK2 9344 broad.mit.edu 37 16 30002663 30002663 + Missense_Mutation SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr16:30002663C>T ENST00000279394.3 + 19 3327 c.2924C>T c.(2923-2925)cCc>cTc p.P975L NM_004783.3 NP_004774.1 Q9UL54 TAOK2_HUMAN TAO kinase 2 864 Leu-rich. actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus ATP binding|protein serine/threonine kinase activity breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1) 22 CTGCTGGCTCCCCCAGGCCCC 0.716000 10 10 0 0 0.010729 0 0 ACVR1C 130399 broad.mit.edu 37 2 158399337 158399337 + Silent SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr2:158399337C>T ENST00000243349.7 - 6 1341 c.981G>A c.(979-981)aaG>aaA p.K327K ACVR1C_ENST00000409680.3_Silent_p.K277K|ACVR1C_ENST00000348328.5_Silent_p.K170K|ACVR1C_ENST00000335450.7_Silent_p.K247K NM_145259.2 NP_660302.2 Q8NER5 ACV1C_HUMAN activin A receptor, type IC 327 Protein kinase. apoptosis|cell differentiation|regulation of apoptosis activin receptor complex activin receptor activity, type I|ATP binding|transforming growth factor beta receptor activity NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 42 CTAAGATATTCTTTGATTTTA 0.368000 34 52 0 0 0.003271 0 0 CDH10 1008 broad.mit.edu 37 5 24488047 24488047 + Missense_Mutation SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr5:24488047G>A ENST00000264463.4 - 12 2599 c.2092C>T c.(2092-2094)Cct>Tct p.P698S CDH10_ENST00000502921.1_5'UTR NM_006727.3 NP_006718.2 Q9Y6N8 CAD10_HUMAN cadherin 10, type 2 (T2-cadherin) 698 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) GTCCTCCGAGGAATAAATAAC 0.502000 HNSCC(23;0.051) 30 6 0 0 0.006320 0 0 TRBV6-5 28602 broad.mit.edu 37 7 142180696 142180696 + RNA SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr7:142180696G>A ENST00000390368.2 - 0 228 GGGTCTTGTCGATACCAGGAC 0.507000 56 245 0 0 0.014410 0 0 OR7E24 26648 broad.mit.edu 37 19 9361804 9361804 + Missense_Mutation SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr19:9361804G>A ENST00000456448.1 + 1 199 c.85G>A c.(85-87)Gaa>Aaa p.E29K NM_001079935.1 NP_001073404.1 Q6IFN5 O7E24_HUMAN olfactory receptor, family 7, subfamily E, member 24 29 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2) 16 AGGTGTCTCAGAATTCCTCCT 0.502000 11 14 0 0 0.010729 0 0 IGFL3 388555 broad.mit.edu 37 19 46627345 46627345 + Missense_Mutation SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr19:46627345G>A ENST00000341415.2 - 3 172 c.148C>T c.(148-150)Cct>Tct p.P50S AC007193.6_ENST00000597989.1_lincRNA NM_207393.1 NP_997276.1 Q6UXB1 IGFL3_HUMAN IGF-like family member 3 50 extracellular region protein binding endometrium(1)|large_intestine(1)|lung(5) 7 Ovarian(192;0.0175)|all_neural(266;0.0476) OV - Ovarian serous cystadenocarcinoma(262;0.00473)|GBM - Glioblastoma multiforme(486;0.0149)|Epithelial(262;0.239) TGCTCTGAAGGGTTGTAGATC 0.562000 41 45 0 0 0.006230 0 0 SORL1 6653 broad.mit.edu 37 11 121416054 121416054 + Missense_Mutation SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr11:121416054C>T ENST00000260197.7 + 14 2096 c.1967C>T c.(1966-1968)cCc>cTc p.P656L SORL1_ENST00000532451.1_3'UTR NM_003105.5 NP_003096.1 Q92673 SORL_HUMAN sortilin-related receptor, L(DLR class) A repeats containing 656 cholesterol metabolic process|lipid transport|receptor-mediated endocytosis integral to plasma membrane|low-density lipoprotein particle low-density lipoprotein particle binding|transmembrane receptor activity NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2) 91 Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113) BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108) CGGCGGACCCCCCATGCCACA 0.542000 22 38 0 0 0.012319 0 0 LRRN4 164312 broad.mit.edu 37 20 6022301 6022301 + Silent SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr20:6022301C>T ENST00000378858.4 - 5 1814 c.1590G>A c.(1588-1590)gaG>gaA p.E530E NM_152611.4 NP_689824.2 Q8WUT4 LRRN4_HUMAN leucine rich repeat neuronal 4 530 Poly-Glu. integral to membrane breast(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2) 27 TCCCTTCCTCCTCCTCACTGT 0.637000 61 80 0 0 0.014410 0 0 DPY19L4 286148 broad.mit.edu 37 8 95802053 95802053 + Missense_Mutation SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr8:95802053C>T ENST00000414645.2 + 19 2186 c.2087C>T c.(2086-2088)cCa>cTa p.P696L NM_181787.2 NP_861452.2 Q7Z388 D19L4_HUMAN dpy-19-like 4 (C. elegans) 696 integral to membrane breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2) 21 Breast(36;3.85e-06) AACTATTCTCCATATGTGAAT 0.323000 125 228 0 0 0.014410 0 0 PTPN3 5774 broad.mit.edu 37 9 112145746 112145746 + Missense_Mutation SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr9:112145746G>A ENST00000412145.1 - 18 4499 c.1946C>T c.(1945-1947)aCc>aTc p.T649I PTPN3_ENST00000394827.3_Missense_Mutation_p.T248I|PTPN3_ENST00000262539.3_Missense_Mutation_p.T626I|PTPN3_ENST00000374541.2_Missense_Mutation_p.T780I|PTPN3_ENST00000446349.1_Missense_Mutation_p.T604I NM_001145369.1|NM_001145371.1 NP_001138841.1|NP_001138843.1 P26045 PTN3_HUMAN protein tyrosine phosphatase, non-receptor type 3 780 Tyrosine-protein phosphatase. negative regulation of membrane protein ectodomain proteolysis|negative regulation of mitotic cell cycle cytoplasm|cytoskeleton|internal side of plasma membrane ATPase binding|cytoskeletal protein binding|phosphotyrosine binding|protein tyrosine phosphatase activity breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 41 ATAGGCGATGGTGCAGTCCTC 0.592000 50 72 0 0 0.014410 0 0 PLEKHM3 389072 broad.mit.edu 37 2 208773280 208773280 + Missense_Mutation SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr2:208773280G>A ENST00000457206.1 - 7 2379 c.1952C>T c.(1951-1953)tCc>tTc p.S651F PLEKHM3_ENST00000389247.4_Silent_p.L636L|PLEKHM3_ENST00000427836.2_Silent_p.L636L Q6ZWE6 PKHM3_HUMAN pleckstrin homology domain containing, family M, member 3 0 intracellular signal transduction metal ion binding central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 TCTGTTGAAGGAGGTATTCTC 0.438000 34 44 0 0 0.004878 0 0 PAPOLG 64895 broad.mit.edu 37 2 61021139 61021139 + Missense_Mutation SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr2:61021139C>T ENST00000238714.3 + 19 2051 c.1802C>T c.(1801-1803)cCc>cTc p.P601L NM_022894.3 NP_075045.2 Q9BWT3 PAPOG_HUMAN poly(A) polymerase gamma 601 mRNA processing|RNA polyadenylation|transcription, DNA-dependent nucleus ATP binding|metal ion binding|polynucleotide adenylyltransferase activity|RNA binding breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 35 all_hematologic(2;0.0797) LUSC - Lung squamous cell carcinoma(5;1.19e-07)|Lung(5;2.86e-06)|Epithelial(17;0.0768) GTATCACCCCCCACTGTGTGT 0.393000 32 48 0 0 0.013726 0 0 RBM25 58517 broad.mit.edu 37 14 73580994 73580994 + Splice_Site SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr14:73580994G>A ENST00000261973.7 + 18 2677 c.2391_splice c.e18-1 p.V798_splice RBM25_ENST00000527432.1_Splice_Site_p.V798_splice|RBM25_ENST00000532483.1_3'UTR NM_021239.2 NP_067062.1 P49756 RBM25_HUMAN RNA binding motif protein 25 798 PWI. apoptosis|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|RNA splicing cytoplasm|nuclear speck mRNA binding|nucleotide binding|protein binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(6)|ovary(2)|pancreas(1) 31 BRCA - Breast invasive adenocarcinoma(234;0.00362)|OV - Ovarian serous cystadenocarcinoma(108;0.0688) TCTCTTTTAGGTTATGGCTCA 0.259000 12 24 0 0 0.001855 0 0 GAL3ST1 9514 broad.mit.edu 37 22 30951599 30951599 + Missense_Mutation SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr22:30951599C>T ENST00000402321.1 - 3 930 c.613G>A c.(613-615)Gac>Aac p.D205N GAL3ST1_ENST00000402369.1_Missense_Mutation_p.D205N|GAL3ST1_ENST00000443111.2_Missense_Mutation_p.D205N|GAL3ST1_ENST00000401975.1_Missense_Mutation_p.D205N|GAL3ST1_ENST00000406361.1_Missense_Mutation_p.D205N|GAL3ST1_ENST00000406955.1_Missense_Mutation_p.D205N|GAL3ST1_ENST00000338911.5_Missense_Mutation_p.D205N Q99999 G3ST1_HUMAN galactose-3-O-sulfotransferase 1 205 protein N-linked glycosylation Golgi membrane|integral to plasma membrane|membrane fraction galactosylceramide sulfotransferase activity NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 21 CCGTTGGGGTCGTAGTAGCGA 0.627000 30 59 0 0 0.007291 0 0 PAPPA 5069 broad.mit.edu 37 9 118949457 118949457 + Missense_Mutation SNP T T A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr9:118949457T>A ENST00000328252.3 + 2 809 c.440T>A c.(439-441)aTc>aAc p.I147N NM_002581.3 NP_002572.2 Q13219 PAPP1_HUMAN pregnancy-associated plasma protein A, pappalysin 1 147 cell differentiation|female pregnancy cytoplasm|extracellular region|membrane metalloendopeptidase activity|zinc ion binding NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 98 TGTTCTTATATCTCACGTGAC 0.453000 34 31 0 0 0.006230 0 0 OR2A25 392138 broad.mit.edu 37 7 143771930 143771930 + Silent SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr7:143771930G>A ENST00000408898.2 + 1 656 c.618G>A c.(616-618)ctG>ctA p.L206L NM_001004488.1 NP_001004488.1 A4D2G3 O2A25_HUMAN olfactory receptor, family 2, subfamily A, member 25 206 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(16)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1) 24 Melanoma(164;0.0783) TGTCTGTGCTGGTGGGAGCCT 0.438000 64 54 0 0 0.014410 0 0 MYF6 4618 broad.mit.edu 37 12 81101504 81101504 + Missense_Mutation SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr12:81101504G>A ENST00000228641.3 + 1 228 c.6G>A c.(4-6)atG>atA p.M2I NM_002469.2 NP_002460.1 P23409 MYF6_HUMAN myogenic factor 6 (herculin) 2 muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|skeletal muscle tissue development nucleoplasm DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|skin(1) 26 AGAACATGATGATGGACCTTT 0.463000 36 41 0 0 0.005524 0 0 IL17RA 23765 broad.mit.edu 37 22 17589371 17589371 + Missense_Mutation SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr22:17589371C>T ENST00000319363.6 + 13 1395 c.1262C>T c.(1261-1263)tCg>tTg p.S421L NM_014339.5 NP_055154.3 Q96F46 I17RA_HUMAN interleukin 17 receptor A 421 SEFIR. fibroblast activation|positive regulation of interleukin-23 production integral to plasma membrane interleukin-17 receptor activity endometrium(2)|large_intestine(8)|lung(16)|ovary(1)|skin(2)|stomach(1) 30 all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132) Colorectal(9;0.241) CAGGCCATCTCGGAGGCAGGA 0.637000 31 42 0 0 0.010818 0 0 CACNA1D 776 broad.mit.edu 37 3 53814129 53814129 + Missense_Mutation SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr3:53814129G>A ENST00000288139.3 + 39 4842 c.4724G>A c.(4723-4725)cGa>cAa p.R1575Q CACNA1D_ENST00000422281.2_Missense_Mutation_p.R1540Q|CACNA1D_ENST00000350061.5_Missense_Mutation_p.R1555Q|CACNA1D_ENST00000540742.1_Missense_Mutation_p.R447Q NM_000720.2 NP_000711.1 Q01668 CAC1D_HUMAN calcium channel, voltage-dependent, L type, alpha 1D subunit 1555 axon guidance|energy reserve metabolic process|regulation of insulin secretion voltage-gated calcium channel complex voltage-gated calcium channel activity breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 90 BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613) Verapamil(DB00661) GCTTTGGTTCGAACGGCTCTT 0.468000 33 32 0 0 0.003755 0 0 RPS6KB2 6199 broad.mit.edu 37 11 67200847 67200847 + Missense_Mutation SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr11:67200847G>A ENST00000312629.5 + 10 880 c.835G>A c.(835-837)Gat>Aat p.D279N AP003419.16_ENST00000535922.1_RNA NM_003952.2 NP_003943.2 Q9UBS0 KS6B2_HUMAN ribosomal protein S6 kinase, 70kDa, polypeptide 2 279 Protein kinase. nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of translational initiation|translation nucleoplasm ATP binding|protein serine/threonine kinase activity breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|salivary_gland(1)|stomach(2) 25 BRCA - Breast invasive adenocarcinoma(15;3.26e-06) GAAAACCATGGATAAGATCAT 0.627000 44 54 0 0 0.014410 0 0 FAM9B 171483 broad.mit.edu 37 X 9000489 9000489 + Silent SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chrX:9000489G>A ENST00000362066.3 - 2 365 c.177C>T c.(175-177)gtC>gtT p.V59V FAM9B_ENST00000428477.1_Silent_p.V14V|FAM9B_ENST00000327220.5_Silent_p.V14V Q8IZU0 FAM9B_HUMAN family with sequence similarity 9, member B 14 nucleus breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|urinary_tract(1) 11 Hepatocellular(5;0.219) ATTCATCACGGACTGGATCCT 0.393000 53 3 0 0 0.014410 0 0 OR4S2 219431 broad.mit.edu 37 11 55418847 55418847 + Silent SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr11:55418847C>T ENST00000312422.2 + 1 468 c.468C>T c.(466-468)atC>atT p.I156I NM_001004059.2 NP_001004059.2 Q8NH73 OR4S2_HUMAN olfactory receptor, family 4, subfamily S, member 2 156 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(2)|large_intestine(4)|lung(28)|ovary(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 all_epithelial(135;0.0748) ACTCCATTATCCAAGTGGCTC 0.433000 64 86 0 0 0.014410 0 0 LAMA2 3908 broad.mit.edu 37 6 129766889 129766889 + Missense_Mutation SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr6:129766889G>A ENST00000421865.2 + 45 6401 c.6352G>A c.(6352-6354)Gaa>Aaa p.E2118K NM_000426.3|NM_001079823.1 NP_000417.2|NP_001073291.1 P24043 LAMA2_HUMAN laminin, alpha 2 2118 Domain II and I. cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2) 194 OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245) ACCCATCAAGGAACTTGAGGA 0.378000 15 19 0 0 0.002450 0 0 RELN 5649 broad.mit.edu 37 7 103197509 103197509 + Silent SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr7:103197509C>T ENST00000424685.2 - 38 5871 c.5712G>A c.(5710-5712)acG>acA p.T1904T RELN_ENST00000428762.1_Silent_p.T1904T|RELN_ENST00000343529.5_Silent_p.T1904T P78509 RELN_HUMAN reelin 1904 axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2) 227 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) AAAGTATATTCGTTGTTTGAG 0.403000 26 35 0 0 0.003954 0 0 SUOX 6821 broad.mit.edu 37 12 56397533 56397533 + Silent SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr12:56397533G>A ENST00000394109.3 + 3 1084 c.360G>A c.(358-360)ggG>ggA p.G120G SUOX_ENST00000550478.1_3'UTR|SUOX_ENST00000356124.4_Silent_p.G120G|SUOX_ENST00000551841.2_Intron|SUOX_ENST00000394115.2_Silent_p.G120G|SUOX_ENST00000266971.3_Silent_p.G120G|SUOX_ENST00000548274.1_Silent_p.G120G P51687 SUOX_HUMAN sulfite oxidase 120 Cytochrome b5 heme-binding. mitochondrial intermembrane space electron carrier activity|molybdenum ion binding|sulfite oxidase activity central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6) 15 UCEC - Uterine corpus endometrioid carcinoma (6;0.0471)|OV - Ovarian serous cystadenocarcinoma(18;0.119) TACATCCAGGGGGGCCTTCAA 0.567000 47 60 0 0 0.014410 0 0 GOLM1 51280 broad.mit.edu 37 9 88661463 88661463 + Missense_Mutation SNP T T A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr9:88661463T>A ENST00000388712.3 - 5 557 c.389A>T c.(388-390)aAt>aTt p.N130I GOLM1_ENST00000388711.3_Missense_Mutation_p.N130I|GOLM1_ENST00000257504.6_5'UTR NM_016548.3 NP_057632.2 Q8NBJ4 GOLM1_HUMAN golgi membrane protein 1 130 Golgi apparatus|integral to plasma membrane breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1) 17 CCTGCCGTAATTCCTCTGCAG 0.532000 7 9 0 0 0.008291 0 0 KRT84 3890 broad.mit.edu 37 12 52777539 52777539 + Nonsense_Mutation SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr12:52777539C>T ENST00000257951.3 - 2 656 c.590G>A c.(589-591)tGg>tAg p.W197* RP3-416H24.4_ENST00000547174.1_RNA NM_033045.3 NP_149034.2 Q9NSB2 KRT84_HUMAN keratin 84 197 Coil 1A.|Rod. keratin filament structural constituent of epidermis breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(10)|skin(3) 27 all_hematologic(5;0.12) BRCA - Breast invasive adenocarcinoma(357;0.189) GAGGAAGCTCCACTTGGTCTC 0.507000 30 32 0 0 0.012213 0 0 SYT16 83851 broad.mit.edu 37 14 62551057 62551057 + Missense_Mutation SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr14:62551057G>A ENST00000430451.2 + 5 1775 c.1578G>A c.(1576-1578)atG>atA p.M526I NM_031914.2 NP_114120.2 Q17RD7 SYT16_HUMAN synaptotagmin XVI 526 C2 2. central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 35 OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118) CTGTGGAAATGATCAAAGGCA 0.537000 22 22 0 0 0.010504 0 0 RABL6 55684 broad.mit.edu 37 9 139722973 139722973 + Nonsense_Mutation SNP T T G TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr9:139722973T>G ENST00000371663.4 + 4 616 c.341T>G c.(340-342)tTa>tGa p.L114* RABL6_ENST00000466096.1_3'UTR|RABL6_ENST00000357466.2_Nonsense_Mutation_p.L114*|RABL6_ENST00000371671.4_Nonsense_Mutation_p.L114*|RABL6_ENST00000371675.3_5'UTR|RABL6_ENST00000311502.7_Nonsense_Mutation_p.L114*|RABL6_ENST00000432842.2_Nonsense_Mutation_p.L76* NM_001173988.1|NM_024718.4 NP_001167459.1|NP_078994.3 RAB, member RAS oncogene family-like 6 GGCGACGGCTTAAAGATGGAG 0.572000 19 24 0 0 0.012319 0 0 SIRPB2 284759 broad.mit.edu 37 20 1459118 1459118 + Missense_Mutation SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr20:1459118C>T ENST00000359801.3 - 3 622 c.586G>A c.(586-588)Gga>Aga p.G196R SIRPB2_ENST00000444444.1_Missense_Mutation_p.G98R|SIRPB2_ENST00000381630.1_Missense_Mutation_p.G98R|SIRPB2_ENST00000537284.1_Missense_Mutation_p.G58R NM_001122962.1 NP_001116434.1 Q5JXA9 SIRB2_HUMAN signal-regulatory protein beta 2 196 Ig-like V-type 2. integral to membrane endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 AGACCAGCTCCCTGGAACCAC 0.577000 25 38 0 0 0.003330 0 0 UGT2B28 54490 broad.mit.edu 37 4 70146759 70146759 + Missense_Mutation SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr4:70146759G>A ENST00000335568.5 + 1 543 c.541G>A c.(541-543)Gaa>Aaa p.E181K UGT2B28_ENST00000511240.1_Missense_Mutation_p.E181K NM_053039.1 NP_444267.1 Q9BY64 UDB28_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B28 181 xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 31 Flunitrazepam(DB01544) CTACACAATTGAAAGGCACAG 0.418000 45 46 0 0 0.010771 0 0 CDK8 1024 broad.mit.edu 37 13 26967593 26967593 + Missense_Mutation SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr13:26967593C>T ENST00000381527.3 + 7 1239 c.736C>T c.(736-738)Cct>Tct p.P246S CDK8_ENST00000536792.1_3'UTR NM_001260.1 NP_001251.1 P49336 CDK8_HUMAN cyclin-dependent kinase 8 246 Protein kinase. regulation of transcription, DNA-dependent|transcription, DNA-dependent mediator complex ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1) 25 Colorectal(5;0.000442) Lung SC(185;0.0156)|Breast(139;0.147) all cancers(112;0.0384)|Epithelial(112;0.142)|OV - Ovarian serous cystadenocarcinoma(117;0.188) AACTAGTAATCCTTATCACCA 0.343000 59 89 0 0 0.014410 0 0 PHYHIPL 84457 broad.mit.edu 37 10 61004923 61004923 + Missense_Mutation SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr10:61004923G>A ENST00000373880.4 + 5 967 c.703G>A c.(703-705)Gaa>Aaa p.E235K PHYHIPL_ENST00000373878.3_Missense_Mutation_p.E209K NM_032439.3 NP_115815.2 Q96FC7 PHIPL_HUMAN phytanoyl-CoA 2-hydroxylase interacting protein-like 235 NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(3)|skin(1)|urinary_tract(1) 18 CTGCAGCACTGAATTCAATAC 0.428000 21 19 0 0 0.002780 0 0 MUC16 94025 broad.mit.edu 37 19 9065029 9065029 + Missense_Mutation SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr19:9065029G>A ENST00000397910.4 - 3 22620 c.22417C>T c.(22417-22419)Cct>Tct p.P7473S NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 7475 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 TTTGAGAAAGGATGAATTTTC 0.473000 44 68 0 0 0.013114 0 0 NR3C2 4306 broad.mit.edu 37 4 149075792 149075792 + Missense_Mutation SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr4:149075792G>A ENST00000355292.3 - 5 2649 c.2287C>T c.(2287-2289)Cca>Tca p.P763S NR3C2_ENST00000344721.4_Missense_Mutation_p.P759S|NR3C2_ENST00000503313.1_5'UTR|NR3C2_ENST00000342437.4_Intron|NR3C2_ENST00000358102.3_Missense_Mutation_p.P759S|NR3C2_ENST00000511528.1_Missense_Mutation_p.P763S|RP11-76G10.1_ENST00000514843.1_RNA|NR3C2_ENST00000512865.1_Intron P08235 MCR_HUMAN nuclear receptor subfamily 3, group C, member 2 759 Steroid-binding. regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor endoplasmic reticulum membrane|nucleoplasm protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 41 all_hematologic(180;0.151) GBM - Glioblastoma multiforme(119;0.0614) Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421) GCTGTATCTGGTTTTGAGCTG 0.488000 79 90 0 0 0.014410 0 0 PCDHB7 56129 broad.mit.edu 37 5 140552480 140552480 + Missense_Mutation SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr5:140552480G>A ENST00000231137.3 + 1 238 c.64G>A c.(64-66)Gga>Aga p.G22R NM_018940.2 NP_061763.1 Q9Y5E2 PCDB7_HUMAN 22 calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1) 119 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TGTATTTCTGGGAATGTCTTG 0.483000 30 10 0 0 0.009535 0 0 C1orf173 127254 broad.mit.edu 37 1 75055579 75055579 + Missense_Mutation SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr1:75055579C>T ENST00000326665.5 - 12 2130 c.1912G>A c.(1912-1914)Gaa>Aaa p.E638K RP4-612J11.1_ENST00000416017.1_RNA|C1orf173_ENST00000420661.2_Missense_Mutation_p.E441K NM_001002912.4 NP_001002912.4 Q5RHP9 CA173_HUMAN chromosome 1 open reading frame 173 638 Glu-rich. NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5) 184 TCTAAGGATTCCTCAATTGGA 0.413000 36 48 0 0 0.004878 0 0 NOB1 28987 broad.mit.edu 37 16 69788587 69788587 + Nonsense_Mutation SNP C C A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr16:69788587C>A ENST00000268802.5 - 2 135 c.106G>T c.(106-108)Gag>Tag p.E36* NM_014062.1 NP_054781.1 Q9ULX3 NOB1_HUMAN NIN1/RPN12 binding protein 1 homolog (S. cerevisiae) 36 PINc. nucleus metal ion binding|protein binding breast(2)|cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 11 TCCCGAATCTCAGTGACCACC 0.632000 20 22 1.9806e-07 2.09073e-07 0.014323 1 0 CNBD2 140894 broad.mit.edu 37 20 34571961 34571961 + Silent SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr20:34571961C>T ENST00000373973.3 + 5 638 c.465C>T c.(463-465)ttC>ttT p.F155F CNBD2_ENST00000538900.1_Silent_p.F155F|CNBD2_ENST00000349339.1_Silent_p.F155F cyclic nucleotide binding domain containing 2 GCTTTTATTTCATCTACCTGG 0.522000 35 35 0 0 0.012213 0 0 CDH11 1009 broad.mit.edu 37 16 64982634 64982634 + Silent SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr16:64982634G>A ENST00000394156.3 - 13 2404 c.1951C>T c.(1951-1953)Ctg>Ttg p.L651L CDH11_ENST00000566827.1_Intron|CDH11_ENST00000268603.4_Intron P55287 CAD11_HUMAN cadherin 11, type 2, OB-cadherin (osteoblast) 0 adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development integral to membrane|plasma membrane calcium ion binding|protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2) 88 Ovarian(137;0.0973) OV - Ovarian serous cystadenocarcinoma(108;0.205) TGGAAGCCCAGATAAAGCAAT 0.443000 T USP6 aneurysmal bone cysts TSP Lung(24;0.17) 5 12 0 0 0.001984 0 0 CSMD3 114788 broad.mit.edu 37 8 113246620 113246620 + Missense_Mutation SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr8:113246620C>T ENST00000297405.5 - 68 10958 c.10714G>A c.(10714-10716)Gaa>Aaa p.E3572K CSMD3_ENST00000455883.2_Missense_Mutation_p.E3403K|CSMD3_ENST00000352409.3_Missense_Mutation_p.E3502K|CSMD3_ENST00000343508.3_Missense_Mutation_p.E3532K NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 3572 integral to membrane|plasma membrane p.E3532*(1)|p.E3572*(1) breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 CAATTTTCTTCCTTCATTTTC 0.358000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 33 61 0 0 0.004878 0 0 APOB 338 broad.mit.edu 37 2 21229594 21229594 + Silent SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr2:21229594C>T ENST00000233242.1 - 26 10273 c.10146G>A c.(10144-10146)gaG>gaA p.E3382E NM_000384.2 NP_000375.2 P04114 APOB_HUMAN apolipoprotein B 3382 LDL receptor binding. 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) TTGTGGTGCCCTCTAATTTGT 0.413000 248 369 0 0 0.014410 0 0 RNF150 57484 broad.mit.edu 37 4 141789438 141789438 + Missense_Mutation SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr4:141789438C>T ENST00000306799.3 - 7 1821 c.1168G>A c.(1168-1170)Gac>Aac p.D390N RNF150_ENST00000379512.2_Missense_Mutation_p.D291N|RNF150_ENST00000515673.1_Missense_Mutation_p.D432N|RNF150_ENST00000420921.2_Missense_Mutation_p.D291N NM_020724.1 NP_065775.1 Q9ULK6 RN150_HUMAN ring finger protein 150 432 integral to membrane zinc ion binding breast(1)|large_intestine(10)|lung(7)|ovary(1) 19 all_hematologic(180;0.162) TCTTCACAGTCCTGGTCAGTG 0.483000 12 28 0 0 0.010729 0 0 GPR128 84873 broad.mit.edu 37 3 100368614 100368614 + Missense_Mutation SNP G G T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr3:100368614G>T ENST00000273352.3 + 11 1610 c.1342G>T c.(1342-1344)Ggt>Tgt p.G448C GPR128_ENST00000475887.1_Missense_Mutation_p.G153C NM_032787.2 NP_116176.2 Q96K78 GP128_HUMAN G protein-coupled receptor 128 448 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 56 GTCTGTTACTGGTCTGGCTCT 0.368000 4 62 1.23904e-05 1.30678e-05 0.000602 1 0 XPO5 57510 broad.mit.edu 37 6 43543521 43543521 + Missense_Mutation SNP C C A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr6:43543521C>A ENST00000265351.7 - 1 291 c.81G>T c.(79-81)caG>caT p.Q27H NM_020750.2 NP_065801.1 Q9HAV4 XPO5_HUMAN exportin 5 27 Necessary for interaction with Ran. gene silencing by RNA cytosol|nucleoplasm protein binding|tRNA binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(4)|lung(10)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1) 34 all_cancers(18;2.08e-05)|Lung NSC(15;0.000907)|all_lung(25;0.00243) all cancers(41;0.000321)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0524) GCCGGTAGCGCTGGGTGGAGT 0.672000 49 72 1.78197e-24 1.9097e-24 0.014410 1 0 GATAD2B 57459 broad.mit.edu 37 1 153800700 153800700 + Missense_Mutation SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr1:153800700G>A ENST00000368655.4 - 2 367 c.124C>T c.(124-126)Cgt>Tgt p.R42C NM_020699.2 NP_065750.1 Q8WXI9 P66B_HUMAN GATA zinc finger domain containing 2B 42 nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(5)|lung(12)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 38 all_lung(78;1.34e-32)|Lung NSC(65;1.04e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) ATTTTCAGACGTTCCATGGCC 0.502000 65 115 0 0 0.014410 0 0 OR5AU1 390445 broad.mit.edu 37 14 21623849 21623849 + Silent SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr14:21623849G>A ENST00000304418.3 - 1 373 c.336C>T c.(334-336)tcC>tcT p.S112S NM_001004731.1 NP_001004731.1 Q8NGC0 O5AU1_HUMAN olfactory receptor, family 5, subfamily AU, member 1 112 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(12)|pancreas(1) 21 all_cancers(95;0.00238) Epithelial(56;6.88e-07)|all cancers(55;6.02e-06) GBM - Glioblastoma multiforme(265;0.0192) TCTTCAGGAGGGAGTACATGG 0.542000 24 31 0 0 0.002780 0 0 HAPLN3 145864 broad.mit.edu 37 15 89422255 89422255 + Missense_Mutation SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr15:89422255G>A ENST00000359595.3 - 4 953 c.739C>T c.(739-741)Ccc>Tcc p.P247S HAPLN3_ENST00000562889.1_Missense_Mutation_p.P309S NM_178232.2 NP_839946.1 Q96S86 HPLN3_HUMAN hyaluronan and proteoglycan link protein 3 247 Link 1. cell adhesion proteinaceous extracellular matrix hyaluronic acid binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1) 17 Lung NSC(78;0.0392)|all_lung(78;0.077) CGGTGGCGGGGGCCGTAGCTT 0.682000 OREG0023445 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 10 11 0 0 0.010729 0 0 ADAM2 2515 broad.mit.edu 37 8 39645760 39645760 + Missense_Mutation SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr8:39645760G>A ENST00000265708.4 - 9 756 c.653C>T c.(652-654)tCa>tTa p.S218L ADAM2_ENST00000521880.1_Missense_Mutation_p.S218L|ADAM2_ENST00000347580.4_Missense_Mutation_p.S199L|ADAM2_ENST00000379853.2_Intron NM_001464.3 NP_001455.3 Q99965 ADAM2_HUMAN ADAM metallopeptidase domain 2 218 Peptidase M12B. cell adhesion|fusion of sperm to egg plasma membrane|proteolysis integral to plasma membrane integrin binding|metalloendopeptidase activity|zinc ion binding haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1) 53 all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246) LUSC - Lung squamous cell carcinoma(45;0.000149) READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162) AATATTAAATGAAACAAAAAT 0.239000 4 17 0 0 0.000602 0 0 ZNF251 90987 broad.mit.edu 37 8 145947332 145947332 + Nonsense_Mutation SNP A A T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr8:145947332A>T ENST00000292562.7 - 5 1988 c.1713T>A c.(1711-1713)taT>taA p.Y571* ZNF251_ENST00000524394.1_Intron NM_138367.1 NP_612376.1 Q9BRH9 ZN251_HUMAN zinc finger protein 251 571 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding autonomic_ganglia(1)|kidney(1)|large_intestine(5)|lung(9)|stomach(1) 17 all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;7.54e-38)|all cancers(56;6.19e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11) GBM - Glioblastoma multiforme(99;0.198) AAGCTTTTCCATATTCATTAC 0.468000 33 39 0 0 0.012213 0 0 RALGDS 5900 broad.mit.edu 37 9 135983586 135983586 + Missense_Mutation SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr9:135983586G>A ENST00000393160.3 - 6 1174 c.821C>T c.(820-822)cCa>cTa p.P274L RALGDS_ENST00000372047.3_Missense_Mutation_p.P317L|RALGDS_ENST00000372062.3_Missense_Mutation_p.P300L|RALGDS_ENST00000372050.3_Missense_Mutation_p.P329L|RALGDS_ENST00000469972.1_5'UTR|RALGDS_ENST00000542690.1_Missense_Mutation_p.P400L|RALGDS_ENST00000393157.3_Missense_Mutation_p.P328L NM_001042368.1 NP_001035827.1 Q12967 GNDS_HUMAN ral guanine nucleotide dissociation stimulator 329 nerve growth factor receptor signaling pathway|Ras protein signal transduction|regulation of small GTPase mediated signal transduction cytosol Ral guanyl-nucleotide exchange factor activity endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|upper_aerodigestive_tract(2) 10 OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05) AGCTGGCGCTGGAGCCGATTC 0.587000 T CIITA """PMBL, Hodgkin Lymphona, """ 24 29 0 0 0.014323 0 0 TENM4 26011 broad.mit.edu 37 11 78498042 78498042 + Missense_Mutation SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr11:78498042C>T ENST00000278550.7 - 16 2728 c.2266G>A c.(2266-2268)Gac>Aac p.D756N NM_001098816.2 NP_001092286.2 teneurin transmembrane protein 4 GCCCGCTGGTCGCAGGCTGCC 0.697000 5 2 0 0 0.000602 0 0 KIAA1644 85352 broad.mit.edu 37 22 44681538 44681538 + Missense_Mutation SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr22:44681538C>T ENST00000381176.4 - 4 501 c.369G>A c.(367-369)atG>atA p.M123I NM_001099294.1 NP_001092764.1 Q3SXP7 K1644_HUMAN KIAA1644 123 integral to membrane breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1) 9 all_neural(38;0.0762)|Ovarian(80;0.105)|Glioma(61;0.222) TGTCGTAGTTCATTGCCGAGT 0.552000 64 82 0 0 0.014410 0 0 EEF1A1 1915 broad.mit.edu 37 6 74228328 74228328 + Missense_Mutation SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr6:74228328C>T ENST00000316292.9 - 5 1769 c.778G>A c.(778-780)Ggt>Agt p.G260S EEF1A1_ENST00000309268.6_Missense_Mutation_p.G260S|EEF1A1_ENST00000491404.1_Intron|EEF1A1_ENST00000331523.2_Missense_Mutation_p.G260S NM_001402.5 NP_001393.1 P68104 EF1A1_HUMAN eukaryotic translation elongation factor 1 alpha 1 260 cytosol|eukaryotic translation elongation factor 1 complex GTP binding|GTPase activity|protein binding|translation elongation factor activity p.G260C(1) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|prostate(2)|skin(3) 18 GGAACAGTACCAATACCTAAA 0.413000 OREG0003895 type=REGULATORY REGION|Gene=D16891|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 28 32 0 0 0.009535 0 0 IL5RA 3568 broad.mit.edu 37 3 3137086 3137086 + Missense_Mutation SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr3:3137086C>T ENST00000446632.2 - 8 1326 c.752G>A c.(751-753)gGa>gAa p.G251E IL5RA_ENST00000383846.1_Missense_Mutation_p.G251E|IL5RA_ENST00000418488.2_Intron|IL5RA_ENST00000430514.2_Missense_Mutation_p.G251E|IL5RA_ENST00000256452.3_Missense_Mutation_p.G251E|IL5RA_ENST00000311981.8_Missense_Mutation_p.G251E|IL5RA_ENST00000456302.1_Missense_Mutation_p.G251E|IL5RA_ENST00000445864.2_Intron|IL5RA_ENST00000438560.1_Missense_Mutation_p.G251E NM_175726.3 NP_783853.1 Q01344 IL5RA_HUMAN interleukin 5 receptor, alpha 251 cell proliferation extracellular space|integral to membrane|plasma membrane interleukin-5 receptor activity cervix(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2) 24 Epithelial(13;0.00278)|all cancers(10;0.00809)|OV - Ovarian serous cystadenocarcinoma(96;0.00944) GAGACGAGTTCCTTCAATCTC 0.358000 17 19 0 0 0.007413 0 0 RBM41 55285 broad.mit.edu 37 X 106312492 106312492 + Silent SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chrX:106312492G>A ENST00000372487.1 - 6 1094 c.1068C>T c.(1066-1068)acC>acT p.T356T RBM41_ENST00000372479.3_Silent_p.T356T NM_001171080.1 NP_001164551.1 Q96IZ5 RBM41_HUMAN RNA binding motif protein 41 356 RRM. nucleotide binding|RNA binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1) 13 TACTGGGAAAGGTGATAAAAG 0.423000 30 6 0 0 0.009535 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110478974 110478974 + Missense_Mutation SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr8:110478974G>A ENST00000378402.5 + 50 8685 c.8581G>A c.(8581-8583)Gat>Aat p.D2861N NM_177531.4 NP_803875.2 Q86WI1 PKHL1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 2861 immune response cytosol|extracellular space|integral to membrane receptor activity NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4) 263 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) GCTTGAAAAGGATGTGGTTCT 0.388000 HNSCC(38;0.096) 9 5 0 0 0.013537 0 0 FAM169B 283777 broad.mit.edu 37 15 98995102 98995102 + Missense_Mutation SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr15:98995102C>T ENST00000558256.1 - 5 571 c.322G>A c.(322-324)Gag>Aag p.E108K FAM169B_ENST00000332908.4_Missense_Mutation_p.E108K NM_182562.2 NP_872368.2 Q8N8A8 F169B_HUMAN family with sequence similarity 169, member B 108 large_intestine(3)|lung(3)|urinary_tract(1) 7 CCCAGGGCCTCGTCCTCTGGG 0.557000 14 19 0 0 0.003163 0 0 CSMD3 114788 broad.mit.edu 37 8 113303898 113303898 + Missense_Mutation SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr8:113303898G>A ENST00000297405.5 - 56 9059 c.8815C>T c.(8815-8817)Cca>Tca p.P2939S CSMD3_ENST00000455883.2_Missense_Mutation_p.P2770S|CSMD3_ENST00000352409.3_Missense_Mutation_p.P2869S|CSMD3_ENST00000343508.3_Missense_Mutation_p.P2899S NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 2939 Sushi 20. integral to membrane|plasma membrane breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 GAATTGGCTGGAATTCCAGGA 0.294000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 25 40 0 0 0.006320 0 0 NUP98 4928 broad.mit.edu 37 11 3803334 3803334 + Missense_Mutation SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr11:3803334G>A ENST00000324932.7 - 2 434 c.14C>T c.(13-15)tCa>tTa p.S5L NUP98_ENST00000355260.3_Missense_Mutation_p.S5L|NUP98_ENST00000397004.4_Missense_Mutation_p.S5L|NUP98_ENST00000397007.4_Missense_Mutation_p.S5L|NUP98_ENST00000359171.4_Missense_Mutation_p.S5L NM_016320.4|NM_139132.3 NP_057404.2|NP_624358.2 P52948 NUP98_HUMAN nucleoporin 98kDa 5 carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex protein binding|structural constituent of nuclear pore|transporter activity NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 66 Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227) BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199) TGTTCCAAATGATTTGTTAAA 0.358000 T """HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11""" AML 14 21 0 0 0.002450 0 0 L3MBTL3 84456 broad.mit.edu 37 6 130370480 130370480 + Missense_Mutation SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr6:130370480G>A ENST00000529410.1 + 6 635 c.156G>A c.(154-156)atG>atA p.M52I L3MBTL3_ENST00000533560.1_Missense_Mutation_p.M52I|L3MBTL3_ENST00000368139.2_Missense_Mutation_p.M52I|L3MBTL3_ENST00000526019.1_Missense_Mutation_p.M52I|L3MBTL3_ENST00000361794.2_Missense_Mutation_p.M52I|L3MBTL3_ENST00000368136.2_Missense_Mutation_p.M52I Q96JM7 LMBL3_HUMAN l(3)mbt-like 3 (Drosophila) 52 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|skin(4)|stomach(1)|urinary_tract(1) 43 GBM - Glioblastoma multiforme(226;0.0266)|OV - Ovarian serous cystadenocarcinoma(155;0.154) AGAATGAGATGGAAAATGTTA 0.393000 11 23 0 0 0.001855 0 0 MEP1A 4224 broad.mit.edu 37 6 46766888 46766888 + Missense_Mutation SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr6:46766888C>T ENST00000230588.4 + 5 241 c.232C>T c.(232-234)Ccc>Tcc p.P78S NM_005588.2 NP_005579.2 Q16819 MEP1A_HUMAN meprin A, alpha (PABA peptide hydrolase) 78 Metalloprotease. digestion|proteolysis extracellular space|integral to plasma membrane|soluble fraction metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 42 Lung(136;0.192) GTGGACGTTCCCCATTCCTTA 0.443000 18 28 0 0 0.008871 0 0 MASP2 10747 broad.mit.edu 37 1 11106674 11106674 + Silent SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr1:11106674G>A ENST00000400897.3 - 3 366 c.351C>T c.(349-351)ttC>ttT p.F117F MASP2_ENST00000400898.3_Silent_p.F117F NM_006610.3 NP_006601.2 O00187 MASP2_HUMAN mannan-binding lectin serine peptidase 2 117 CUB 1. complement activation, classical pathway|complement activation, lectin pathway|proteolysis extracellular region calcium ion binding|calcium-dependent protein binding|serine-type endopeptidase activity biliary_tract(1)|endometrium(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 23 Ovarian(185;0.249) Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) STAD - Stomach adenocarcinoma(5;0.071) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.12e-07)|COAD - Colon adenocarcinoma(227;7.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)|STAD - Stomach adenocarcinoma(313;0.192) AGTCGGAGCGGAAGGTAATGT 0.627000 25 2 0 0 0.003330 0 0 RALY 22913 broad.mit.edu 37 20 32661652 32661652 + Silent SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr20:32661652C>T ENST00000246194.3 + 5 859 c.357C>T c.(355-357)taC>taT p.Y119Y RALY_ENST00000375114.3_Intron|RALY_ENST00000493399.1_Intron NM_016732.2 NP_057951.1 Q9UKM9 RALY_HUMAN RALY heterogeneous nuclear ribonucleoprotein 119 catalytic step 2 spliceosome|heterogeneous nuclear ribonucleoprotein complex nucleotide binding|RNA binding kidney(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 12 ATGATTACTACCGGGACGACT 0.572000 23 32 0 0 0.003330 0 0 CHD5 26038 broad.mit.edu 37 1 6209357 6209357 + Silent SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr1:6209357C>T ENST00000262450.3 - 8 1209 c.1110G>A c.(1108-1110)ctG>ctA p.L370L CHD5_ENST00000378021.1_5'UTR NM_015557.2 NP_056372.1 Q8TDI0 CHD5_HUMAN chromodomain helicase DNA binding protein 5 370 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2) 16 Ovarian(185;0.0634) all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15) Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193) GCTCTGGGTCCAGGCATACGA 0.657000 8 14 0 0 0.003080 0 0 TRIOBP 11078 broad.mit.edu 37 22 38119243 38119243 + Missense_Mutation SNP G G C TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr22:38119243G>C ENST00000406386.3 + 7 935 c.680G>C c.(679-681)gGa>gCa p.G227A RP1-37E16.12_ENST00000455236.1_RNA NM_001039141.2 NP_001034230.1 Q9H2D6 TARA_HUMAN TRIO and F-actin binding protein 227 actin modification|barbed-end actin filament capping actin cytoskeleton|cytoplasm|nucleus actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 12 Melanoma(58;0.0574) AGGCTCCGGGGAGAAAGCGGG 0.647000 9 12 0 0 0.004482 0 0 PCDH15 65217 broad.mit.edu 37 10 55955622 55955622 + Missense_Mutation SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr10:55955622G>A ENST00000373965.2 - 11 1520 c.1126C>T c.(1126-1128)Cct>Tct p.P376S PCDH15_ENST00000395446.1_Missense_Mutation_p.P376S|PCDH15_ENST00000437009.1_Missense_Mutation_p.P376S|PCDH15_ENST00000414778.1_Missense_Mutation_p.P381S|PCDH15_ENST00000373955.1_Missense_Mutation_p.P376S|PCDH15_ENST00000395440.1_Missense_Mutation_p.P376S|PCDH15_ENST00000395433.1_Missense_Mutation_p.P354S|PCDH15_ENST00000373957.3_Missense_Mutation_p.P354S|PCDH15_ENST00000361849.3_Missense_Mutation_p.P376S|PCDH15_ENST00000395432.2_Missense_Mutation_p.P339S|PCDH15_ENST00000395438.1_Missense_Mutation_p.P376S|PCDH15_ENST00000320301.6_Missense_Mutation_p.P376S|PCDH15_ENST00000395430.1_Missense_Mutation_p.P376S|PCDH15_ENST00000409834.1_5'UTR|PCDH15_ENST00000395445.1_Missense_Mutation_p.P376S|PCDH15_ENST00000395442.1_Intron NM_001142771.1|NM_001142772.1 NP_001136243.1|NP_001136244.1 Q96QU1 PCD15_HUMAN protocadherin-related 15 376 Cadherin 3. 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) GCAAAGGCAGGAAGAGGATGA 0.368000 HNSCC(58;0.16) 21 38 0 0 0.014323 0 0 EPHB3 2049 broad.mit.edu 37 3 184298380 184298380 + Missense_Mutation SNP C C T rs146519815 TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr3:184298380C>T ENST00000330394.2 + 12 2815 c.2363C>T c.(2362-2364)tCc>tTc p.S788F EIF2B5_ENST00000444495.1_Intron NM_004443.3 NP_004434.2 P54753 EPHB3_HUMAN EPH receptor B3 788 Protein kinase. integral to plasma membrane ATP binding|ephrin receptor activity breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 51 all_cancers(143;1.89e-10)|Ovarian(172;0.0339) Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22) GATGACCCCTCCGATCCTACC 0.652000 24 43 0 0 0.003330 0 0 TG 7038 broad.mit.edu 37 8 133899155 133899155 + Missense_Mutation SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr8:133899155G>A ENST00000220616.4 + 9 1578 c.1538G>A c.(1537-1539)gGg>gAg p.G513E TG_ENST00000377869.1_Missense_Mutation_p.G513E NM_003235.4 NP_003226.4 P01266 THYG_HUMAN thyroglobulin 513 hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation extracellular space hormone activity NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8) 168 Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735) BRCA - Breast invasive adenocarcinoma(115;0.000701) KIRC - Kidney renal clear cell carcinoma(542;0.0546) TTGAATGGAGGGAGACAAGAA 0.448000 24 36 0 0 0.002780 0 0 OR52E6 390078 broad.mit.edu 37 11 5862787 5862787 + Missense_Mutation SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr11:5862787C>T ENST00000329322.5 - 1 340 c.341G>A c.(340-342)aGc>aAc p.S114N TRIM5_ENST00000380027.1_Intron|OR52E6_ENST00000379946.2_Missense_Mutation_p.S118N NM_001005167.1 NP_001005167.1 Q96RD3 O52E6_HUMAN olfactory receptor, family 52, subfamily E, member 6 114 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 27 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;2.55e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CAATACGATGCTCTCCATGAC 0.448000 70 96 0 0 0.014410 0 0 OR13C2 392376 broad.mit.edu 37 9 107367090 107367090 + Silent SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr9:107367090C>T ENST00000542196.1 - 1 861 c.819G>A c.(817-819)ttG>ttA p.L273L NM_001004481.1 NP_001004481.1 Q8NGS9 O13C2_HUMAN olfactory receptor, family 13, subfamily C, member 2 273 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 22 CGGTAGCATCCAAGTCATCCG 0.418000 38 59 0 0 0.008740 0 0 MC2R 4158 broad.mit.edu 37 18 13885332 13885332 + Silent SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr18:13885332G>A ENST00000327606.3 - 2 366 c.186C>T c.(184-186)ttC>ttT p.F62F NM_000529.2 NP_000520.1 Q01718 ACTHR_HUMAN melanocortin 2 receptor (adrenocorticotropic hormone) 62 G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process integral to plasma membrane corticotropin receptor activity|protein binding breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(8)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 30 Corticotropin(DB01285)|Cosyntropin(DB01284) AGCTACAGATGAAAAAGTACA 0.408000 14 18 0 0 0.002450 0 0 KRT9 3857 broad.mit.edu 37 17 39728108 39728108 + Missense_Mutation SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr17:39728108C>T ENST00000246662.4 - 1 202 c.137G>A c.(136-138)cGa>cAa p.R46Q KRT9_ENST00000588431.1_Intron NM_000226.3 NP_000217.2 P35527 K1C9_HUMAN keratin 9 46 Head. intermediate filament organization|skin development protein binding|structural constituent of cytoskeleton p.R46L(1) autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 25 Breast(137;0.000307) AGAGCTGAATCGGCCCCCTCC 0.682000 4 5 0 0 0.009096 0 0 ZNF665 79788 broad.mit.edu 37 19 53667831 53667831 + Missense_Mutation SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr19:53667831G>A ENST00000600412.1 - 2 1832 c.1717C>T c.(1717-1719)Cgt>Tgt p.R573C ZNF665_ENST00000396424.3_Missense_Mutation_p.R638C Q9H7R5 ZN665_HUMAN zinc finger protein 665 573 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 35 GBM - Glioblastoma multiforme(134;0.0196) AGGGTTGAACGAACACTGAAG 0.393000 25 43 0 0 0.004656 0 0 RP1 6101 broad.mit.edu 37 8 55542301 55542301 + Missense_Mutation SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr8:55542301G>A ENST00000220676.1 + 4 6007 c.5859G>A c.(5857-5859)atG>atA p.M1953I NM_006269.1 NP_006260.1 P56715 RP1_HUMAN retinitis pigmentosa 1 (autosomal dominant) 1953 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) ATTTATGGATGAAAATACACC 0.333000 13 13 0 0 0.001855 0 0 ZBTB39 9880 broad.mit.edu 37 12 57397508 57397508 + Silent SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr12:57397508G>A ENST00000300101.2 - 2 1279 c.1194C>T c.(1192-1194)ttC>ttT p.F398F NM_014830.2 NP_055645.1 O15060 ZBT39_HUMAN zinc finger and BTB domain containing 39 398 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(3)|prostate(1) 16 AGGAGAAAAGGAAAATACCAA 0.512000 29 35 0 0 0.007291 0 0 RBMXL2 27288 broad.mit.edu 37 11 7111098 7111098 + Silent SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr11:7111098G>A ENST00000306904.5 + 1 934 c.747G>A c.(745-747)cgG>cgA p.R249R NM_014469.4 NP_055284.3 O75526 HNRGT_HUMAN RNA binding motif protein, X-linked-like 2 249 Arg/Gly/Pro-rich. nucleus|ribonucleoprotein complex nucleotide binding|RNA binding NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 15 Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189) CCAGTGTCCGGGACGACTGTC 0.652000 12 32 0 0 0.001855 0 0 OR13C2 392376 broad.mit.edu 37 9 107367354 107367354 + Missense_Mutation SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr9:107367354C>T ENST00000542196.1 - 1 597 c.555G>A c.(553-555)atG>atA p.M185I NM_001004481.1 NP_001004481.1 Q8NGS9 O13C2_HUMAN olfactory receptor, family 13, subfamily C, member 2 185 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 22 AGGCCAGTTTCATGACAGCCA 0.398000 53 38 0 0 0.014410 0 0 TSPAN8 7103 broad.mit.edu 37 12 71531774 71531774 + Missense_Mutation SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr12:71531774C>T ENST00000393330.2 - 9 955 c.403G>A c.(403-405)Gaa>Aaa p.E135K TSPAN8_ENST00000546561.1_Missense_Mutation_p.E135K|TSPAN8_ENST00000247829.3_Missense_Mutation_p.E135K|TSPAN8_ENST00000552128.1_Missense_Mutation_p.E52K P19075 TSN8_HUMAN tetraspanin 8 135 protein glycosylation integral to membrane|lysosome signal transducer activity p.E135K(1) breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(3)|lung(7)|skin(3)|urinary_tract(1) 19 LUSC - Lung squamous cell carcinoma(43;0.24)|OV - Ovarian serous cystadenocarcinoma(12;0.244) AATTGTTTTTCACTTTCCCCT 0.338000 176 251 0 0 0.014410 0 0 BCAN 63827 broad.mit.edu 37 1 156621460 156621460 + Missense_Mutation SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr1:156621460G>A ENST00000329117.4 + 7 1612 c.1276G>A c.(1276-1278)Gag>Aag p.E426K BCAN_ENST00000361588.5_Missense_Mutation_p.E426K|RP11-284F21.7_ENST00000448869.1_RNA NM_021948.4 NP_068767.3 Q96GW7 PGCB_HUMAN brevican 426 Glu-rich. cell adhesion anchored to membrane|proteinaceous extracellular matrix hyaluronic acid binding|sugar binding cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 55 all_hematologic(923;0.088)|Hepatocellular(266;0.158) AGACCCAGCAGAGGCCCCTAG 0.562000 56 61 0 0 0.014410 0 0 MAGEB16 139604 broad.mit.edu 37 X 35821044 35821044 + Missense_Mutation SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chrX:35821044G>A ENST00000399989.1 + 2 1010 c.731G>A c.(730-732)gGa>gAa p.G244E MAGEB16_ENST00000399988.1_Missense_Mutation_p.G244E|MAGEB16_ENST00000399987.1_Missense_Mutation_p.G244E|MAGEB16_ENST00000399992.1_Missense_Mutation_p.G276E|MAGEB16_ENST00000399985.1_Missense_Mutation_p.G244E NM_001099921.1 NP_001093391.1 A2A368 MAGBG_HUMAN melanoma antigen family B, 16 244 MAGE. breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 31 TTCATCTTTGGAGAGCCCAGA 0.488000 13 0 0 0 0.003163 0 0 OR6C1 390321 broad.mit.edu 37 12 55714467 55714467 + Silent SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr12:55714467C>T ENST00000379668.2 + 1 122 c.84C>T c.(82-84)ttC>ttT p.F28F NM_001005182.1 NP_001005182.1 Q96RD1 OR6C1_HUMAN olfactory receptor, family 6, subfamily C, member 1 28 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|large_intestine(5)|liver(2)|lung(13)|ovary(1)|upper_aerodigestive_tract(1) 25 TCTTTGTCTTCCTGCTCATCA 0.423000 21 34 0 0 0.002780 0 0 SLC22A25 387601 broad.mit.edu 37 11 62948233 62948233 + Silent SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr11:62948233G>A ENST00000403374.2 - 7 774 c.471C>T c.(469-471)acC>acT p.T157T SLC22A10_ENST00000525620.1_Intron|SLC22A25_ENST00000306494.6_Silent_p.T323T|SLC22A10_ENST00000535888.1_Intron Q6T423 S22AP_HUMAN solute carrier family 22, member 25 323 transmembrane transport integral to membrane NS(2)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(7)|ovary(3)|skin(7) 34 CTTGCTTCATGGTGGATTTCA 0.398000 22 20 0 0 0.014323 0 0 CLIC5 53405 broad.mit.edu 37 6 45882144 45882144 + Missense_Mutation SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr6:45882144G>A ENST00000185206.6 - 5 1038 c.886C>T c.(886-888)Ctt>Ttt p.L296F CLIC5_ENST00000339561.6_Missense_Mutation_p.L137F|CLIC5_ENST00000486570.1_5'UTR|CLIC5_ENST00000544153.1_Missense_Mutation_p.L137F NM_001114086.1 NP_001107558.1 Q9NZA1 CLIC5_HUMAN chloride intracellular channel 5 296 GST C-terminal. female pregnancy actin cytoskeleton|cell cortex|chloride channel complex|Golgi apparatus|insoluble fraction|microtubule organizing center protein binding|voltage-gated chloride channel activity endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3) 13 CCTCTTTCAAGAGCTGGCATG 0.473000 35 30 0 0 0.003755 0 0 PIK3R4 30849 broad.mit.edu 37 3 130452686 130452686 + Missense_Mutation SNP G G T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr3:130452686G>T ENST00000356763.3 - 4 1713 c.1156C>A c.(1156-1158)Cta>Ata p.L386I NM_014602.2 NP_055417.1 Q99570 PI3R4_HUMAN phosphoinositide-3-kinase, regulatory subunit 4 386 fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway cytosol ATP binding|protein binding|protein serine/threonine kinase activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(6)|large_intestine(16)|lung(28)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1) 77 AGGGTCTGTAGGCAGGATGTT 0.403000 42 73 1.57019e-19 1.67824e-19 0.007835 1 0 TRAF5 7188 broad.mit.edu 37 1 211545749 211545749 + Missense_Mutation SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr1:211545749C>T ENST00000336184.2 + 11 1439 c.1379C>T c.(1378-1380)tCc>tTc p.S460F TRAF5_ENST00000367004.3_Missense_Mutation_p.S460F|TRAF5_ENST00000261464.5_Missense_Mutation_p.S460F|TRAF5_ENST00000427925.2_Missense_Mutation_p.S354F NM_004619.3 NP_004610.1 O00463 TRAF5_HUMAN TNF receptor-associated factor 5 460 MATH. apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis CD40 receptor complex|centrosome|internal side of plasma membrane protein binding|ubiquitin-protein ligase activity|zinc ion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 OV - Ovarian serous cystadenocarcinoma(81;0.00946)|all cancers(67;0.0808)|Epithelial(68;0.144) TCACACCTGTCCCTATACTTT 0.557000 34 78 0 0 0.004289 0 0 ACAD10 80724 broad.mit.edu 37 12 112182701 112182701 + Missense_Mutation SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr12:112182701G>A ENST00000455480.2 + 14 2239 c.2062G>A c.(2062-2064)Gag>Aag p.E688K ACAD10_ENST00000413681.3_3'UTR|ACAD10_ENST00000392636.2_Missense_Mutation_p.E259K|ACAD10_ENST00000313698.4_Missense_Mutation_p.E657K|ACAD10_ENST00000549590.1_Missense_Mutation_p.E657K NM_001136538.1 NP_001130010.1 Q6JQN1 ACD10_HUMAN acyl-CoA dehydrogenase family, member 10 657 H -> R (in Ref. 2; BAC03869). acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity|transferase activity, transferring phosphorus-containing groups NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5) 47 TATCTCTCCAGAGAGCCTCTC 0.587000 29 38 0 0 0.006320 0 0 OR51I1 390063 broad.mit.edu 37 11 5461959 5461959 + Missense_Mutation SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr11:5461959C>T ENST00000380211.1 - 1 785 c.786G>A c.(784-786)atG>atA p.M262I HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron NM_001005288.2 NP_001005288.1 Q9H343 O51I1_HUMAN olfactory receptor, family 51, subfamily I, member 1 262 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 30 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) AGCGGTGAATCATGGAGACAG 0.483000 28 41 0 0 0.007291 0 0 SRL 6345 broad.mit.edu 37 16 4242767 4242767 + Missense_Mutation SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr16:4242767C>T ENST00000399609.3 - 6 821 c.809G>A c.(808-810)gGg>gAg p.G270E SRL_ENST00000537996.1_Missense_Mutation_p.G228E NM_001098814.1 NP_001092284.1 Q86TD4 SRCA_HUMAN sarcalumenin 729 Acidic domain, probably binds calcium (By similarity). sarcoplasmic reticulum lumen GTP binding|GTPase activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(3) 21 GAAGAGGGCCCCGTAAACCCG 0.552000 42 46 0 0 0.007835 0 0 KCNIP3 30818 broad.mit.edu 37 2 96040908 96040908 + Silent SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr2:96040908C>T ENST00000295225.5 + 5 534 c.399C>T c.(397-399)ttC>ttT p.F133F KCNIP3_ENST00000360990.3_Silent_p.F111F|KCNIP3_ENST00000468529.1_Silent_p.F107F|KCNIP3_ENST00000377181.2_3'UTR NM_013434.4 NP_038462.1 Q9Y2W7 CSEN_HUMAN Kv channel interacting protein 3, calsenilin 133 EF-hand 2. apoptosis|signal transduction|transcription, DNA-dependent endoplasmic reticulum|Golgi apparatus|nucleus|plasma membrane calcium ion binding|DNA binding|potassium channel activity|transcription corepressor activity|voltage-gated ion channel activity NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 16 READ - Rectum adenocarcinoma(193;0.13) ATGCACACTTCCTCTTCAACG 0.637000 35 74 0 0 0.006230 0 0 KRT39 390792 broad.mit.edu 37 17 39122874 39122874 + Missense_Mutation SNP G G A rs147200744 TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr17:39122874G>A ENST00000355612.2 - 1 270 c.235C>T c.(235-237)Cgt>Tgt p.R79C AC004231.2_ENST00000418393.1_RNA NM_213656.3 NP_998821.3 Q6A163 K1C39_HUMAN keratin 39 79 Head. intermediate filament structural molecule activity NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1) 17 Breast(137;0.00043)|Ovarian(249;0.15) AGAGAAAAACGGGCATTGAAG 0.512000 108 114 0 0 0.014410 0 0 VANGL1 81839 broad.mit.edu 37 1 116228028 116228028 + Silent SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr1:116228028C>T ENST00000355485.2 + 7 1465 c.1194C>T c.(1192-1194)ttC>ttT p.F398F VANGL1_ENST00000310260.3_Silent_p.F398F|VANGL1_ENST00000369510.3_Silent_p.F396F|VANGL1_ENST00000369509.1_Silent_p.F398F NM_001172411.1|NM_138959.2 NP_001165882.1|NP_620409.1 Q8TAA9 VANG1_HUMAN VANGL planar cell polarity protein 1 398 multicellular organismal development integral to membrane protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|liver(2)|lung(13)|urinary_tract(1) 27 Lung SC(450;0.211) all_cancers(81;1.24e-06)|all_epithelial(167;1.02e-06)|all_lung(203;7.95e-06)|Lung NSC(69;4.97e-05) Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12) AGGCCATTTTCCCCTCCATGG 0.612000 40 5 0 0 0.008740 0 0 C19orf66 55337 broad.mit.edu 37 19 10200677 10200677 + Missense_Mutation SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr19:10200677C>T ENST00000397881.3 + 5 662 c.185C>T c.(184-186)tCc>tTc p.S62F C19orf66_ENST00000253110.11_Missense_Mutation_p.S113F|CTD-2240E14.4_ENST00000589622.1_RNA|C19orf66_ENST00000591813.1_Missense_Mutation_p.S113F Q9NUL5 CS066_HUMAN chromosome 19 open reading frame 66 113 large_intestine(3)|skin(1) 4 TTTGCCTGCTCCTCCTGCGAC 0.602000 11 6 0 0 0.008291 0 0 MYH2 4620 broad.mit.edu 37 17 10443353 10443353 + Missense_Mutation SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr17:10443353C>T ENST00000245503.5 - 12 1423 c.1039G>A c.(1039-1041)Gaa>Aaa p.E347K MYH2_ENST00000532183.1_Missense_Mutation_p.E347K|CTC-297N7.7_ENST00000587182.1_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.E347K NM_017534.5 NP_060004.3 Q9UKX2 MYH2_HUMAN myosin, heavy chain 2, skeletal muscle, adult 347 Myosin head-like. muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle p.E347K(1) 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 ACCTTTTCTTCATTAGTAAAG 0.423000 33 53 0 0 0.004878 0 0 AHNAK2 113146 broad.mit.edu 37 14 105416206 105416206 + Missense_Mutation SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr14:105416206G>A ENST00000333244.5 - 7 5701 c.5582C>T c.(5581-5583)tCc>tTc p.S1861F AHNAK2_ENST00000557457.1_Intron NM_138420.2 NP_612429.2 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 1861 nucleus cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3) 33 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) CCCCTGCATGGAGGGGAGGCT 0.642000 93 139 0 0 0.014410 0 0 GRIN2A 2903 broad.mit.edu 37 16 10273906 10273906 + Silent SNP G G A rs145961628 TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr16:10273906G>A ENST00000396573.2 - 3 672 c.363C>T c.(361-363)ttC>ttT p.F121F GRIN2A_ENST00000404927.2_Silent_p.F121F|GRIN2A_ENST00000562109.1_Silent_p.F121F|GRIN2A_ENST00000330684.3_Silent_p.F121F|GRIN2A_ENST00000396575.2_Silent_p.F121F NM_000833.3 NP_000824.1 Q12879 NMDE1_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2A 121 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 p.F121L(1) NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1) 198 Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) AGATGGGGACGAAGGTGTGGG 0.602000 39 48 0 0 0.006999 0 0 OR14K1 343170 broad.mit.edu 37 1 247902828 247902828 + Nonsense_Mutation SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr1:247902828G>A ENST00000283225.2 + 1 912 c.912G>A c.(910-912)tgG>tgA p.W304* RP11-634B7.4_ENST00000449298.1_RNA olfactory receptor, family 14, subfamily K, member 1 NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|lung(18)|ovary(1)|urinary_tract(1) 27 AAGTCCTGTGGAATGTTAgaa 0.403000 19 22 0 0 0.010504 0 0 ZNF440 126070 broad.mit.edu 37 19 11943726 11943726 + Missense_Mutation SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr19:11943726C>T ENST00000304060.5 + 4 1899 c.1735C>T c.(1735-1737)Cct>Tct p.P579S NM_152357.2 NP_689570.2 Q8IYI8 ZN440_HUMAN zinc finger protein 440 579 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(9)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 27 TGTGGGAAACCCTTCGGATCT 0.468000 14 20 0 0 0.002450 0 0 TSHZ2 128553 broad.mit.edu 37 20 51871782 51871782 + Silent SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr20:51871782C>T ENST00000371497.5 + 2 2672 c.1785C>T c.(1783-1785)gcC>gcT p.A595A TSHZ2_ENST00000603338.2_Silent_p.A592A|TSHZ2_ENST00000329613.6_Silent_p.A592A NM_001193421.1|NM_173485.5 NP_001180350.1|NP_775756.3 Q9NRE2 TSH2_HUMAN teashirt zinc finger homeobox 2 595 multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.A595A(1) NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 84 STAD - Stomach adenocarcinoma(23;0.1) CACACCTGGCCCCTTACACTC 0.517000 45 39 0 0 0.010771 0 0 LMOD2 442721 broad.mit.edu 37 7 123296126 123296126 + Silent SNP T T C TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr7:123296126T>C ENST00000458573.2 + 1 266 c.109T>C c.(109-111)Ttg>Ctg p.L37L LMOD2_ENST00000456238.2_Silent_p.L37L NM_207163.1 NP_997046.1 Q6P5Q4 LMOD2_HUMAN leiomodin 2 (cardiac) 37 Glu-rich.|Tropomyosin-binding (By similarity). cytoskeleton actin binding|tropomyosin binding AGAGAGAGAGTTGGAAGACAT 0.537000 14 14 0 0 0.004007 0 0 PICALM 8301 broad.mit.edu 37 11 85701401 85701401 + Missense_Mutation SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr11:85701401G>A ENST00000526033.1 - 13 1595 c.1279C>T c.(1279-1281)Cca>Tca p.P427S PICALM_ENST00000532317.1_Intron|PICALM_ENST00000528398.1_Intron|PICALM_ENST00000393346.3_Missense_Mutation_p.P434S|PICALM_ENST00000356360.5_Missense_Mutation_p.P434S NM_001206946.1|NM_007166.3 NP_001193875.1|NP_009097.2 Q13492 PICAL_HUMAN phosphatidylinositol binding clathrin assembly protein 434 clathrin coat assembly|endosome transport|negative regulation of receptor-mediated endocytosis|positive regulation of transcription, DNA-dependent|receptor internalization|regulation of protein localization clathrin coat|clathrin-coated vesicle|coated pit|Golgi apparatus|nucleus|postsynaptic membrane|presynaptic membrane 1-phosphatidylinositol binding|clathrin heavy chain binding endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(10)|ovary(1)|skin(1)|urinary_tract(1) 19 Acute lymphoblastic leukemia(157;7.42e-07)|all_hematologic(158;0.00092) TTTAAGCTTGGAATGGCATCA 0.353000 T """MLLT10, MLL""" """TALL, AML, """ 22 35 0 0 0.014323 0 0 UTP20 27340 broad.mit.edu 37 12 101731947 101731947 + Missense_Mutation SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr12:101731947G>A ENST00000261637.4 + 30 3934 c.3760G>A c.(3760-3762)Gac>Aac p.D1254N NM_014503.2 NP_055318.2 O75691 UTP20_HUMAN UTP20, small subunit (SSU) processome component, homolog (yeast) 1254 endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation 90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome protein binding NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 88 TATTGTAATGGACATAGTTGA 0.423000 46 55 0 0 0.014410 0 0 GRM5 2915 broad.mit.edu 37 11 88386377 88386377 + Missense_Mutation SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr11:88386377C>T ENST00000418177.2 - 4 1473 c.1106G>A c.(1105-1107)gGg>gAg p.G369E GRM5_ENST00000305432.5_Missense_Mutation_p.G369E|GRM5_ENST00000393297.1_Missense_Mutation_p.G369E|GRM5_ENST00000305447.4_Missense_Mutation_p.G369E|GRM5_ENST00000455756.2_Missense_Mutation_p.G369E P41594 GRM5_HUMAN glutamate receptor, metabotropic 5 369 activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 90 Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834) Acamprosate(DB00659) CTGTGGAAACCCTTCCAGTCG 0.383000 23 29 0 0 0.002780 0 0 ANO5 203859 broad.mit.edu 37 11 22301197 22301197 + Silent SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr11:22301197C>T ENST00000324559.8 + 22 2945 c.2628C>T c.(2626-2628)ctC>ctT p.L876L NM_001142649.1|NM_213599.2 NP_001136121.1|NP_998764.1 Q75V66 ANO5_HUMAN anoctamin 5 876 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 TCAAGATTCTCCATGATTTTG 0.348000 13 28 0 0 0.004007 0 0 VN1R4 317703 broad.mit.edu 37 19 53770607 53770607 + Silent SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr19:53770607G>A ENST00000311170.4 - 1 365 c.312C>T c.(310-312)ttC>ttT p.F104F NM_173857.2 NP_776256.2 Q7Z5H5 VN1R4_HUMAN vomeronasal 1 receptor 4 104 response to pheromone actin cytoskeleton|cytoplasm|integral to membrane|plasma membrane pheromone receptor activity central_nervous_system(1)|large_intestine(4)|lung(10)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 22 GBM - Glioblastoma multiforme(134;0.00294) TGATCACCTGGAAGACACTCA 0.488000 HNSCC(26;0.072) 13 19 0 0 0.001855 0 0 ACSF3 197322 broad.mit.edu 37 16 89199645 89199645 + Silent SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr16:89199645C>T ENST00000317447.4 + 8 1718 c.1341C>T c.(1339-1341)ttC>ttT p.F447F ACSF3_ENST00000406948.3_Silent_p.F447F|ACSF3_ENST00000378345.4_Silent_p.F182F NM_001127214.2|NM_001243279.1|NM_174917.3 NP_001120686.1|NP_001230208.1|NP_777577.2 Q4G176 ACSF3_HUMAN acyl-CoA synthetase family member 3 447 fatty acid metabolic process mitochondrion acid-thiol ligase activity|ATP binding central_nervous_system(1)|endometrium(1)|kidney(2)|lung(9)|prostate(1)|urinary_tract(1) 15 BRCA - Breast invasive adenocarcinoma(80;0.0281) AGAGTGCATTCACCCTGGATG 0.557000 24 27 0 0 0.014323 0 0 FBN2 2201 broad.mit.edu 37 5 127863635 127863635 + Missense_Mutation SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr5:127863635C>T ENST00000508053.1 - 10 1436 c.462G>A c.(460-462)atG>atA p.M154I FBN2_ENST00000262464.4_Missense_Mutation_p.M154I|FBN2_ENST00000508989.1_Missense_Mutation_p.M121I P35556 FBN2_HUMAN fibrillin 2 154 EGF-like 2. bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation microfibril calcium ion binding|extracellular matrix structural constituent NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 197 all_cancers(142;0.0216)|Prostate(80;0.0551) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146) TCCCACCATTCATGCATCTCA 0.368000 22 8 0 0 0.004656 0 0 ME1 4199 broad.mit.edu 37 6 84025054 84025054 + Missense_Mutation SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr6:84025054C>T ENST00000369705.3 - 6 795 c.679G>A c.(679-681)Gaa>Aaa p.E227K ME1_ENST00000543031.1_Missense_Mutation_p.E152K|ME1_ENST00000541327.1_Missense_Mutation_p.E61K NM_002395.4 NP_002386.1 P48163 MAOX_HUMAN malic enzyme 1, NADP(+)-dependent, cytosolic 227 carbohydrate metabolic process|cellular lipid metabolic process|malate metabolic process|NADP biosynthetic process|response to carbohydrate stimulus|response to hormone stimulus cytosol ADP binding|electron carrier activity|malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|manganese ion binding|NAD binding|NADP binding NS(2)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 all_cancers(76;1.28e-06)|Acute lymphoblastic leukemia(125;5.03e-07)|all_hematologic(105;0.000238)|all_epithelial(107;0.00218) BRCA - Breast invasive adenocarcinoma(397;0.0641) NADH(DB00157) TCCATGAATTCGTCCAAAAAA 0.303000 22 43 0 0 0.005443 0 0 TLR4 7099 broad.mit.edu 37 9 120475290 120475290 + Missense_Mutation SNP A A G TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr9:120475290A>G ENST00000355622.6 + 3 985 c.884A>G c.(883-885)tAc>tGc p.Y295C TLR4_ENST00000472304.1_3'UTR|TLR4_ENST00000394487.4_Missense_Mutation_p.Y255C NM_138554.4|NM_138557.2 NP_612564.1|NP_612567.1 O00206 TLR4_HUMAN toll-like receptor 4 295 activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm lipopolysaccharide receptor activity|transmembrane receptor activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1) 103 TACTTAGACTACTACCTCGAT 0.338000 36 36 0 0 0.005524 0 0 ZNF609 23060 broad.mit.edu 37 15 64967026 64967026 + Missense_Mutation SNP C C T rs142077559 TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr15:64967026C>T ENST00000326648.3 + 4 2101 c.1973C>T c.(1972-1974)cCc>cTc p.P658L NM_015042.1 NP_055857.1 O15014 ZN609_HUMAN zinc finger protein 609 658 nucleus zinc ion binding breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 TCAGCCCGTCCCATTGCCCCT 0.488000 26 42 0 0 0.004656 0 0 ST8SIA4 7903 broad.mit.edu 37 5 100147716 100147716 + Silent SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr5:100147716C>T ENST00000231461.5 - 5 1225 c.915G>A c.(913-915)aaG>aaA p.K305K NM_005668.4 NP_005659.1 Q92187 SIA8D_HUMAN ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4 305 axon guidance|N-glycan processing integral to Golgi membrane alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(7)|stomach(1)|upper_aerodigestive_tract(1) 25 all_cancers(142;1.5e-07)|all_epithelial(76;1.43e-10)|Prostate(80;0.000644)|Lung NSC(167;0.0059)|all_lung(232;0.00914)|Ovarian(225;0.024)|Colorectal(57;0.09)|Breast(839;0.203) COAD - Colon adenocarcinoma(37;0.00402) CATTTAAATCCTTAGGGAAGG 0.373000 15 4 0 0 0.002450 0 0 DNAH8 1769 broad.mit.edu 37 6 38704979 38704979 + Missense_Mutation SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr6:38704979C>T ENST00000359357.3 + 4 502 c.248C>T c.(247-249)tCt>tTt p.S83F DNAH8_ENST00000449981.2_Missense_Mutation_p.S300F|DNAH8_ENST00000441566.1_Missense_Mutation_p.S83F dynein, axonemal, heavy chain 8 NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4) 260 CAGGGAGAATCTGAAAAACAT 0.323000 40 10 0 0 0.008740 0 0 ATP8A2 51761 broad.mit.edu 37 13 26116179 26116179 + Silent SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr13:26116179G>A ENST00000381655.2 + 9 916 c.774G>A c.(772-774)ggG>ggA p.G258G ATP8A2_ENST00000255283.8_Silent_p.G218G NM_016529.4 NP_057613.4 Q9NTI2 AT8A2_HUMAN ATPase, aminophospholipid transporter, class I, type 8A, member 2 218 ATP biosynthetic process|negative regulation of cell proliferation integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1) 72 Breast(139;0.0201)|Lung SC(185;0.0225) all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079) ACTTAGATGGGAAAAGGTATT 0.363000 11 32 0 0 0.013537 0 0 HCRTR2 3062 broad.mit.edu 37 6 55039512 55039512 + Silent SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr6:55039512C>T ENST00000370862.3 + 1 463 c.127C>T c.(127-129)Ctg>Ttg p.L43L NM_001526.3 NP_001517.2 O43614 OX2R_HUMAN hypocretin (orexin) receptor 2 43 feeding behavior integral to plasma membrane neuropeptide receptor activity breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 46 Lung NSC(77;0.107)|Renal(3;0.122) LUSC - Lung squamous cell carcinoma(124;0.23) CCTGCGGTACCTGTGGAGGGA 0.542000 40 44 0 0 0.005524 0 0 SNORD3A 780851 broad.mit.edu 37 17 19091421 19091421 + RNA SNP A A T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr17:19091421A>T ENST00000365494.1 + 0 93 gaagagaggtagcgttttctc 0.488000 37 338 0 0 0.014410 0 0 BTBD3 22903 broad.mit.edu 37 20 11903873 11903873 + Silent SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr20:11903873C>T ENST00000405977.1 + 5 1753 c.1128C>T c.(1126-1128)caC>caT p.H376H BTBD3_ENST00000254977.3_Silent_p.H315H|BTBD3_ENST00000378226.2_Silent_p.H376H|BTBD3_ENST00000399006.2_Silent_p.H315H Q9Y2F9 BTBD3_HUMAN BTB (POZ) domain containing 3 376 breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(18)|ovary(3)|skin(2) 34 AGCGCTGTCACCGTTTCCAGT 0.512000 20 30 0 0 0.007413 0 0 ERC2 26059 broad.mit.edu 37 3 56330089 56330089 + Silent SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr3:56330089C>T ENST00000288221.6 - 3 1287 c.1032G>A c.(1030-1032)gtG>gtA p.V344V NM_015576.1 NP_056391.1 O15083 ERC2_HUMAN ELKS/RAB6-interacting/CAST family member 2 344 cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome protein binding breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1) 31 KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219) GATCTAAAATCACTTCCAAGT 0.428000 36 53 0 0 0.013726 0 0 RALY 22913 broad.mit.edu 37 20 32661653 32661653 + Missense_Mutation SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr20:32661653C>T ENST00000246194.3 + 5 860 c.358C>T c.(358-360)Cgg>Tgg p.R120W RALY_ENST00000375114.3_Intron|RALY_ENST00000493399.1_Intron NM_016732.2 NP_057951.1 Q9UKM9 RALY_HUMAN RALY heterogeneous nuclear ribonucleoprotein 120 catalytic step 2 spliceosome|heterogeneous nuclear ribonucleoprotein complex nucleotide binding|RNA binding kidney(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 12 TGATTACTACCGGGACGACTT 0.572000 22 31 0 0 0.002780 0 0 FASLG 356 broad.mit.edu 37 1 172634863 172634863 + Missense_Mutation SNP G G A rs80358236 TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr1:172634863G>A ENST00000367721.2 + 4 737 c.553G>A c.(553-555)Gaa>Aaa p.E185K FASLG_ENST00000340030.3_3'UTR NM_000639.1 NP_000630.1 P48023 TNFL6_HUMAN Fas ligand (TNF superfamily, member 6) 185 activation of caspase activity|activation of pro-apoptotic gene products|cell-cell signaling|immune response|induction of necroptosis by extracellular signals|induction of necroptosis of activated-T cells|necrotic cell death|negative regulation of angiogenesis|positive regulation of I-kappaB kinase/NF-kappaB cascade|signal transduction extracellular space|integral to plasma membrane cytokine activity breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(12)|prostate(1)|skin(1) 19 TGTGATCAATGAAACTGGGCT 0.463000 39 37 0 0 0.004289 0 0 GATSL3 652968 broad.mit.edu 37 22 30683443 30683443 + Silent SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr22:30683443G>A ENST00000407689.3 - 3 420 c.291C>T c.(289-291)atC>atT p.I97I RP1-130H16.18_ENST00000447976.1_3'UTR|GATSL3_ENST00000404953.3_Silent_p.I97I NM_001037666.2 NP_001032755.1 GATS protein-like 3 breast(1)|endometrium(1)|lung(1) 3 CCGAACGGGCGATCTTGGTGA 0.612000 OREG0026457 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 27 30 0 0 0.009535 0 0 CNOT1 23019 broad.mit.edu 37 16 58585169 58585169 + Missense_Mutation SNP A A T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr16:58585169A>T ENST00000317147.5 - 24 3541 c.3209T>A c.(3208-3210)aTt>aAt p.I1070N CNOT1_ENST00000441024.2_Missense_Mutation_p.I1070N|CNOT1_ENST00000245138.4_5'UTR|CNOT1_ENST00000569240.1_Missense_Mutation_p.I1065N NM_001265612.1|NM_016284.4 NP_001252541.1|NP_057368.3 A5YKK6 CNOT1_HUMAN CCR4-NOT transcription complex, subunit 1 1070 nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic mRNA processing body|cytosol breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2) 87 Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239) TGTAGTATTAATAGAAGGCTA 0.303000 61 59 0 0 0.014410 0 0 ATP8B4 79895 broad.mit.edu 37 15 50215660 50215660 + Silent SNP A A G TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr15:50215660A>G ENST00000284509.6 - 17 1815 c.1674T>C c.(1672-1674)taT>taC p.Y558Y ATP8B4_ENST00000559829.1_Silent_p.Y558Y NM_024837.2 NP_079113.2 Q8TF62 AT8B4_HUMAN ATPase, class I, type 8B, member 4 558 ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1) 73 all_lung(180;0.00183) all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05) CTCCTTTGGAATAAAGCTTTA 0.378000 13 20 0 0 0.002450 0 0 SLC38A9 153129 broad.mit.edu 37 5 54993677 54993677 + Missense_Mutation SNP T T A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr5:54993677T>A ENST00000539768.1 - 1 109 c.110A>T c.(109-111)aAa>aTa p.K37I SLC38A9_ENST00000318672.3_Missense_Mutation_p.K37I|SLC38A9_ENST00000416547.2_5'UTR|SLC38A9_ENST00000396865.2_Missense_Mutation_p.K37I|SLC38A9_ENST00000504880.1_5'UTR Q8NBW4 S38A9_HUMAN solute carrier family 38, member 9 37 amino acid transport|sodium ion transport integral to membrane endometrium(1)|kidney(1)|large_intestine(3)|lung(3) 8 Lung NSC(810;0.00122)|Prostate(74;0.0376)|Breast(144;0.181) TGCTTACCTTTTGGATCTTAG 0.313000 20 4 0 0 0.012319 0 0 DPF1 8193 broad.mit.edu 37 19 38709273 38709273 + Silent SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr19:38709273G>A ENST00000416611.1 - 5 582 c.459C>T c.(457-459)gaC>gaT p.D153D DPF1_ENST00000456296.1_Silent_p.D153D|DPF1_ENST00000355526.4_Silent_p.D179D|DPF1_ENST00000414789.1_Silent_p.D97D|DPF1_ENST00000420980.2_Silent_p.D179D|DPF1_ENST00000412732.1_Silent_p.D97D Q92782 DPF1_HUMAN D4, zinc and double PHD fingers family 1 179 induction of apoptosis|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nBAF complex zinc ion binding large_intestine(1)|lung(4)|ovary(1)|skin(1) 7 all_cancers(60;1.24e-06) Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292) CCACCTCGAGGTCATGCGGAA 0.552000 26 31 0 0 0.004656 0 0 OR9Q2 219957 broad.mit.edu 37 11 57958679 57958679 + Silent SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr11:57958679C>T ENST00000311591.3 + 1 774 c.717C>T c.(715-717)tcC>tcT p.S239S NM_001005283.2 NP_001005283.1 Q8NGE9 OR9Q2_HUMAN olfactory receptor, family 9, subfamily Q, member 2 239 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|central_nervous_system(2)|endometrium(1)|large_intestine(3)|lung(24)|ovary(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 41 Breast(21;0.0589) AGACCTTCTCCACCTGCGCCT 0.567000 30 44 0 0 0.009535 0 0 WNK2 65268 broad.mit.edu 37 9 96080313 96080313 + Missense_Mutation SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr9:96080313C>T ENST00000427277.2 + 29 6632 c.5468C>T c.(5467-5469)tCc>tTc p.S1823F WNK2_ENST00000349097.3_Intron|WNK2_ENST00000395477.2_Intron|WNK2_ENST00000395475.2_Intron|WNK2_ENST00000356055.3_Intron|WNK2_ENST00000471076.1_Intron|WNK2_ENST00000297954.4_3'UTR Q9Y3S1 WNK2_HUMAN WNK lysine deficient protein kinase 2 113 intracellular protein kinase cascade ATP binding|protein binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2) 54 CTCCTAGGTTCCTGTGGTCCA 0.597000 37 41 0 0 0.014410 0 0 DNAJC5G 285126 broad.mit.edu 37 2 27500791 27500791 + Missense_Mutation SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr2:27500791G>A ENST00000296097.3 + 4 701 c.283G>A c.(283-285)Gac>Aac p.D95N DNAJC5G_ENST00000402462.1_Missense_Mutation_p.D95N|DNAJC5G_ENST00000406962.1_Intron|DNAJC5G_ENST00000404433.1_Missense_Mutation_p.D79N NM_173650.1 NP_775921.1 Q8N7S2 DNJ5G_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 5 gamma 95 J. protein folding membrane heat shock protein binding|unfolded protein binding cervix(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1) 10 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GAAAATTTACGACCAGCATGG 0.418000 26 36 0 0 0.004656 0 0 DBX2 440097 broad.mit.edu 37 12 45410267 45410267 + Silent SNP A A T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr12:45410267A>T ENST00000332700.6 - 4 993 c.822T>A c.(820-822)tcT>tcA p.S274S NM_001004329.2 NP_001004329.2 Q6ZNG2 DBX2_HUMAN developing brain homeobox 2 274 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(3)|kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 22 Lung SC(27;0.192) Lung NSC(34;0.142) GBM - Glioblastoma multiforme(48;0.0515) AAGGACATGGAGAAGGGAAAC 0.493000 41 57 0 0 0.009718 0 0 AKAP1 8165 broad.mit.edu 37 17 55187450 55187450 + Silent SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr17:55187450C>T ENST00000337714.3 + 3 2012 c.1779C>T c.(1777-1779)ttC>ttT p.F593F AKAP1_ENST00000572557.1_Silent_p.F593F|AKAP1_ENST00000539273.1_Silent_p.F593F|AKAP1_ENST00000571629.1_Silent_p.F593F NM_003488.3 NP_003479.1 Q92667 AKAP1_HUMAN A kinase (PRKA) anchor protein 1 593 blood coagulation cytosol|integral to membrane|mitochondrial outer membrane protein binding|RNA binding endometrium(2)|liver(1)|lung(7)|ovary(2)|pancreas(1)|skin(1) 14 Breast(9;5.46e-08) CTGAGAGCTTCCAAAATGCCC 0.562000 59 63 0 0 0.014410 0 0 RAD51B 5890 broad.mit.edu 37 14 68934942 68934942 + Silent SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr14:68934942C>T ENST00000487270.1 + 10 1059 c.1011C>T c.(1009-1011)atC>atT p.I337I RAD51B_ENST00000487861.1_Silent_p.I337I|RAD51B_ENST00000488612.1_Silent_p.I337I|RAD51B_ENST00000469165.2_3'UTR|RAD51B_ENST00000390683.3_Silent_p.I337I|RAD51B_ENST00000471583.1_Silent_p.I337I NM_133509.3 NP_598193.2 O15315 RA51B_HUMAN RAD51 paralog B 337 blood coagulation|DNA repair|reciprocal meiotic recombination nucleoplasm ATP binding|DNA binding|DNA-dependent ATPase activity HMGA2/RAD51B(11) breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 11 TCTACACCATCAAGGAGGAAG 0.438000 Direct reversal of damage 60 91 0 0 0.014410 0 0 NCAM1 4684 broad.mit.edu 37 11 113078697 113078697 + Missense_Mutation SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr11:113078697G>A ENST00000316851.7 + 6 859 c.859G>A c.(859-861)Gat>Aat p.D287N NCAM1_ENST00000533760.1_Missense_Mutation_p.D179N|NCAM1_ENST00000397957.4_3'UTR|NCAM1_ENST00000401611.2_Missense_Mutation_p.D296N NM_001242607.1|NM_181351.4 NP_001229536.1|NP_851996.2 P13591 NCAM1_HUMAN neural cell adhesion molecule 1 297 Ig-like C2-type 3. axon guidance|interferon-gamma-mediated signaling pathway anchored to membrane|extracellular region|Golgi membrane|integral to membrane breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1) 49 all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207) BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212) TGGCGAGCAGGATGCGACCAT 0.532000 5 15 0 0 0.000602 0 0 PRRX1 5396 broad.mit.edu 37 1 170688913 170688913 + Silent SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr1:170688913G>A ENST00000239461.6 + 2 601 c.288G>A c.(286-288)agG>agA p.R96R PRRX1_ENST00000497230.2_Silent_p.R96R|PRRX1_ENST00000367760.3_Silent_p.R96R NM_022716.2 NP_073207.1 P54821 PRRX1_HUMAN paired related homeobox 1 96 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) AGCAGCGAAGGAATAGGACAA 0.473000 16 23 0 0 0.004007 0 0 NF1 4763 broad.mit.edu 37 17 29483087 29483087 + Silent SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr17:29483087C>T ENST00000358273.4 + 2 530 c.147C>T c.(145-147)taC>taT p.Y49Y NF1_ENST00000356175.3_Silent_p.Y49Y|NF1_ENST00000431387.4_Silent_p.Y49Y NM_001042492.2 NP_001035957.1 P21359 NF1_HUMAN neurofibromin 1 49 actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus protein binding|Ras GTPase activator activity p.0?(8)|p.?(3) NF1/ACCN1(2) autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9) 599 all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659) UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146) TTTCCAAATACAAGTTTTCTT 0.338000 """D, Mis, N, F, S, O""" """neurofibroma, glioma""" """neurofibroma, glioma""" Neurofibromatosis, type 1 TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088) 19 38 0 0 0.007413 0 0 KLK10 5655 broad.mit.edu 37 19 51518160 51518160 + Missense_Mutation SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr19:51518160G>A ENST00000309958.3 - 6 945 c.727C>T c.(727-729)Ctc>Ttc p.L243F KLK10_ENST00000391805.1_Missense_Mutation_p.L243F|KLK10_ENST00000358789.3_Missense_Mutation_p.L243F NM_002776.4 NP_002767.2 O43240 KLK10_HUMAN kallikrein-related peptidase 10 243 Peptidase S1. cell cycle|proteolysis extracellular region serine-type endopeptidase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1) 13 all_neural(266;0.026) OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00885) CCCCACGAGAGGATGCCTTGG 0.542000 27 32 0 0 0.006320 0 0 SNAP91 9892 broad.mit.edu 37 6 84290235 84290235 + Missense_Mutation SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr6:84290235G>A ENST00000428679.2 - 24 2826 c.2233C>T c.(2233-2235)Cct>Tct p.P745S SNAP91_ENST00000520302.1_Missense_Mutation_p.P715S|SNAP91_ENST00000521485.1_Missense_Mutation_p.P740S|SNAP91_ENST00000521743.1_Missense_Mutation_p.P745S|SNAP91_ENST00000195649.6_Missense_Mutation_p.P740S|SNAP91_ENST00000520213.1_Missense_Mutation_p.P438S|SNAP91_ENST00000369694.2_Missense_Mutation_p.P745S|SNAP91_ENST00000439399.2_Missense_Mutation_p.P745S|SNAP91_ENST00000437520.1_Missense_Mutation_p.P438S O60641 AP180_HUMAN synaptosomal-associated protein, 91kDa 745 clathrin coat assembly clathrin coat|coated pit|plasma membrane 1-phosphatidylinositol binding|clathrin binding breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 37 all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575) BRCA - Breast invasive adenocarcinoma(397;0.0967) GCCATTGCAGGACTGGGTGGT 0.453000 36 56 0 0 0.006999 0 0 LRP3 4037 broad.mit.edu 37 19 33698215 33698215 + Missense_Mutation SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr19:33698215C>T ENST00000253193.7 + 7 2249 c.2047C>T c.(2047-2049)Ccc>Tcc p.P683S NM_002333.3 NP_002324.2 O75074 LRP3_HUMAN low density lipoprotein receptor-related protein 3 683 receptor-mediated endocytosis coated pit|integral to membrane receptor activity breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2) 15 Esophageal squamous(110;0.137) TTCAGGGCCACCCTTGCCCTC 0.706000 4 11 0 0 0.001168 0 0 FBXO43 286151 broad.mit.edu 37 8 101146506 101146506 + Silent SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr8:101146506C>T ENST00000428847.2 - 4 2077 c.1761G>A c.(1759-1761)agG>agA p.R587R NM_001029860.3 NP_001025031.2 Q4G163 FBX43_HUMAN F-box protein 43 587 meiosis zinc ion binding endometrium(1)|kidney(4)|large_intestine(5)|lung(14)|prostate(1)|skin(5)|urinary_tract(1) 31 all_cancers(14;0.000139)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000274)|all_lung(17;0.000798) Epithelial(11;1.17e-09)|all cancers(13;1.34e-07)|OV - Ovarian serous cystadenocarcinoma(57;3.82e-05)|STAD - Stomach adenocarcinoma(118;0.0957) AACCAGGTATCCTAGCCTGTG 0.478000 36 59 0 0 0.005524 0 0 C2orf78 388960 broad.mit.edu 37 2 74041328 74041328 + Silent SNP A A G TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr2:74041328A>G ENST00000409561.1 + 2 943 c.822A>G c.(820-822)caA>caG p.Q274Q NM_001080474.1 NP_001073943.1 A6NCI8 CB078_HUMAN chromosome 2 open reading frame 78 274 cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|soft_tissue(1)|urinary_tract(1) 34 TGTCTTCTCAACCCATCACAG 0.463000 43 63 0 0 0.014410 0 0 DDIT3 1649 broad.mit.edu 37 12 57911162 57911162 + Missense_Mutation SNP A A C TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr12:57911162A>C ENST00000551116.1 - 3 364 c.97T>G c.(97-99)Ttc>Gtc p.F33V DDIT3_ENST00000547303.1_Missense_Mutation_p.F10V|DDIT3_ENST00000346473.3_Missense_Mutation_p.F10V|DDIT3_ENST00000552740.1_Missense_Mutation_p.F33V NM_001195053.1|NM_001195054.1|NM_001195055.1|NM_001195056.1 NP_001181982.1|NP_001181983.1|NP_001181984.1|NP_001181985.1 P35638 DDIT3_HUMAN DNA-damage-inducible transcript 3 10 cell cycle arrest|cell redox homeostasis|mRNA transcription from RNA polymerase II promoter|negative regulation of determination of dorsal identity|regulation of DNA-dependent transcription in response to stress|response to DNA damage stimulus nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription factor binding EWSR1/DDIT3(45)|FUS/DDIT3(631) central_nervous_system(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)|skin(1) 16 AGTGTCCCGAAGGAGAAAGGC 0.527000 T FUS liposarcoma 22 36 0 0 0.012319 0 0 CIB3 117286 broad.mit.edu 37 19 16280506 16280506 + Missense_Mutation SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr19:16280506C>T ENST00000269878.4 - 3 182 c.133G>A c.(133-135)Gac>Aac p.D45N CIB3_ENST00000379859.3_Intron|CIB3_ENST00000541493.1_Intron NM_054113.2 NP_473454.1 Q96Q77 CIB3_HUMAN calcium and integrin binding family member 3 45 calcium ion binding cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(2) 16 GTGGTATAGTCGAGGGGCACG 0.582000 16 19 0 0 0.006122 0 0 SYT15 83849 broad.mit.edu 37 10 46965118 46965118 + Missense_Mutation SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr10:46965118G>A ENST00000374323.3 - 5 1573 c.986C>T c.(985-987)cCc>cTc p.P329L SYT15_ENST00000374325.3_Missense_Mutation_p.P276L|RP11-38L15.3_ENST00000506914.1_RNA|SYT15_ENST00000374321.4_Missense_Mutation_p.P276L|SYT15_ENST00000503753.1_Missense_Mutation_p.P276L Q9BQS2 SYT15_HUMAN synaptotagmin XV 276 C2 2. integral to membrane|plasma membrane cervix(1)|endometrium(5)|kidney(2)|lung(5) 13 AAACTCCGAGGGGGGCTGGGG 0.642000 14 105 0 0 0.004990 0 0 AHNAK2 113146 broad.mit.edu 37 14 105416205 105416205 + Silent SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr14:105416205G>A ENST00000333244.5 - 7 5702 c.5583C>T c.(5581-5583)tcC>tcT p.S1861S AHNAK2_ENST00000557457.1_Intron NM_138420.2 NP_612429.2 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 1861 nucleus cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3) 33 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) CCCCCTGCATGGAGGGGAGGC 0.647000 92 135 0 0 0.014410 0 0 TJP3 27134 broad.mit.edu 37 19 3738999 3738999 + Missense_Mutation SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr19:3738999G>A ENST00000541714.2 + 13 1960 c.1498G>A c.(1498-1500)Gac>Aac p.D500N TJP3_ENST00000539908.2_Missense_Mutation_p.D464N|TJP3_ENST00000262968.9_Missense_Mutation_p.D533N|TJP3_ENST00000589378.1_Missense_Mutation_p.D509N|TJP3_ENST00000382008.3_Missense_Mutation_p.D514N|TJP3_ENST00000587686.1_Missense_Mutation_p.D519N NM_001267560.1 NP_001254489.1 O95049 ZO3_HUMAN tight junction protein 3 514 SH3. tight junction protein binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 26 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18) CACCCGTGGCGACGTCTTCCA 0.672000 38 44 0 0 0.005524 0 0 CCDC173 129881 broad.mit.edu 37 2 170507017 170507017 + Missense_Mutation SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr2:170507017C>T ENST00000447353.1 - 7 1079 c.974G>A c.(973-975)cGa>cAa p.R325Q NM_001085447.1 NP_001078916.1 coiled-coil domain containing 173 TCTTTCTCTTCGTTTCTCCAT 0.348000 11 11 0 0 0.010729 0 0 MAMDC2 256691 broad.mit.edu 37 9 72785459 72785459 + Silent SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr9:72785459G>A ENST00000377182.4 + 11 2180 c.1563G>A c.(1561-1563)gaG>gaA p.E521E MAMDC2-AS1_ENST00000377178.3_RNA|MAMDC2-AS1_ENST00000591368.1_RNA|MAMDC2_ENST00000460688.1_3'UTR|MAMDC2-AS1_ENST00000448377.3_RNA|MAMDC2-AS1_ENST00000535188.1_RNA NM_153267.4 NP_694999.3 Q7Z304 MAMC2_HUMAN MAM domain containing 2 521 MAM 4. endoplasmic reticulum|membrane breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1) 14 TTACTCAGGAGAAAAGAAACC 0.488000 24 39 0 0 0.005443 0 0 BEND4 389206 broad.mit.edu 37 4 42119579 42119579 + Missense_Mutation SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr4:42119579C>T ENST00000502486.1 - 6 2140 c.1561G>A c.(1561-1563)Gat>Aat p.D521N BEND4_ENST00000504360.1_3'UTR NM_207406.3 NP_997289.2 Q6ZU67 BEND4_HUMAN BEN domain containing 4 521 NS(2)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 26 AAGACTTCATCCTGAGAAGCC 0.527000 9 11 0 0 0.006214 0 0 SNTN 132203 broad.mit.edu 37 3 63638372 63638372 + Silent SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr3:63638372C>T ENST00000343837.3 + 1 29 c.9C>T c.(7-9)ggC>ggT p.G3G NM_001080537.1 NP_001074006.1 A6NMZ2 SNTAN_HUMAN sentan, cilia apical structure protein 3 cilium calcium ion binding endometrium(2)|ovary(1) 3 GAATGGGTGGCTGTATGCACA 0.478000 9 23 0 0 0.004482 0 0 FAM150A 389658 broad.mit.edu 37 8 53454993 53454993 + Missense_Mutation SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr8:53454993C>T ENST00000358543.4 - 2 453 c.203G>A c.(202-204)aGa>aAa p.R68K FAM150A_ENST00000523939.1_Missense_Mutation_p.R68K NM_207413.3 NP_997296.1 Q6UXT8 F150A_HUMAN family with sequence similarity 150, member A 68 extracellular region lung(1) 1 Lung NSC(129;0.0919)|all_epithelial(80;0.125)|all_lung(136;0.17) GTTAGAGTCTCTTGGGAATAT 0.274000 12 10 0 0 0.013537 0 0 KLHL32 114792 broad.mit.edu 37 6 97587033 97587033 + Missense_Mutation SNP T T A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr6:97587033T>A ENST00000369261.4 + 11 2101 c.1738T>A c.(1738-1740)Ttc>Atc p.F580I KLHL32_ENST00000544166.1_Missense_Mutation_p.F136I|KLHL32_ENST00000539200.1_Missense_Mutation_p.F511I|KLHL32_ENST00000536676.1_Missense_Mutation_p.F544I NM_052904.3 NP_443136.2 Q96NJ5 KLH32_HUMAN kelch-like family member 32 580 breast(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(13)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 38 all_cancers(76;1.19e-06)|Acute lymphoblastic leukemia(125;5.83e-10)|all_hematologic(75;3.67e-07)|all_epithelial(107;0.00778)|Colorectal(196;0.122) BRCA - Breast invasive adenocarcinoma(108;0.0558) AGAAGAAGTATTCTATGGGCC 0.413000 52 51 0 0 0.014410 0 0 SALL1 6299 broad.mit.edu 37 16 51174131 51174131 + Missense_Mutation SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr16:51174131C>T ENST00000440970.1 - 2 2142 c.1711G>A c.(1711-1713)Gag>Aag p.E571K SALL1_ENST00000566102.1_Intron|SALL1_ENST00000251020.4_Missense_Mutation_p.E668K|SALL1_ENST00000541611.1_Intron NM_001127892.1 NP_001121364.1 Q9NSC2 SALL1_HUMAN spalt-like transcription factor 1 668 adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development chromocenter|cytoplasm|heterochromatin|nucleus beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3) 126 all_cancers(37;0.0322) COAD - Colon adenocarcinoma(2;0.24) TTGAACTGCTCGGACATGAGC 0.592000 42 51 0 0 0.008740 0 0 PKN3 29941 broad.mit.edu 37 9 131475654 131475654 + Silent SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr9:131475654C>T ENST00000291906.4 + 8 1473 c.1080C>T c.(1078-1080)atC>atT p.I360I NM_013355.3 NP_037487.2 Q6P5Z2 PKN3_HUMAN protein kinase N3 360 signal transduction Golgi apparatus|nucleus|perinuclear region of cytoplasm ATP binding|protein binding|protein kinase C activity breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 24 CCTTTGTCATCCCACTGGAGC 0.652000 42 73 0 0 0.008740 0 0 PTPN13 5783 broad.mit.edu 37 4 87622856 87622856 + Missense_Mutation SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr4:87622856G>A ENST00000436978.1 + 7 1577 c.1097G>A c.(1096-1098)cGa>cAa p.R366Q PTPN13_ENST00000316707.6_Missense_Mutation_p.R366Q|PTPN13_ENST00000427191.2_Missense_Mutation_p.R366Q|PTPN13_ENST00000411767.2_Missense_Mutation_p.R366Q|PTPN13_ENST00000511467.1_Missense_Mutation_p.R366Q NM_080683.2|NM_080685.2 NP_542414.1|NP_542416.1 Q12923 PTN13_HUMAN protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase) 366 cytoplasm|cytoskeleton|plasma membrane protein binding|protein tyrosine phosphatase activity NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2) 93 Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242) OV - Ovarian serous cystadenocarcinoma(123;0.00082) TATCACACTCGAGAATTGCCC 0.433000 32 34 0 0 0.013726 0 0 ATP12A 479 broad.mit.edu 37 13 25281489 25281489 + Missense_Mutation SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr13:25281489C>T ENST00000218548.6 + 17 2762 c.2429C>T c.(2428-2430)cCc>cTc p.P810L ATP12A_ENST00000381946.3_Missense_Mutation_p.P804L NM_001185085.1|NM_001676.5 NP_001172014.1|NP_001667.4 P54707 AT12A_HUMAN ATPase, H+/K+ transporting, nongastric, alpha polypeptide 804 ATP biosynthetic process hydrogen:potassium-exchanging ATPase complex ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5) 74 Lung SC(185;0.0225)|Breast(139;0.077) all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228) Esomeprazole(DB00736)|Pantoprazole(DB00213) GAGCTGTGCCCCTTTCTGATC 0.498000 65 66 0 0 0.014410 0 0 PTCHD4 442213 broad.mit.edu 37 6 47976640 47976640 + Nonsense_Mutation SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr6:47976640G>A ENST00000543600.1 - 2 625 c.586C>T c.(586-588)Cag>Tag p.Q196* PTCHD4_ENST00000339488.4_Nonsense_Mutation_p.Q213* Q6ZW05 CF138_HUMAN patched domain containing 4 213 integral to membrane hedgehog receptor activity GAGTAGAGCTGGAGTTCTTGA 0.522000 20 31 0 0 0.010504 0 0 CNGA3 1261 broad.mit.edu 37 2 99012414 99012414 + Missense_Mutation SNP C C G TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr2:99012414C>G ENST00000393504.1 + 8 1198 c.781C>G c.(781-783)Ctg>Gtg p.L261V CNGA3_ENST00000436404.2_Missense_Mutation_p.L243V|CNGA3_ENST00000272602.2_Missense_Mutation_p.L261V|CNGA3_ENST00000409937.1_Missense_Mutation_p.L265V NM_001298.2 NP_001289.1 Q16281 CNGA3_HUMAN cyclic nucleotide gated channel alpha 3 261 signal transduction|visual perception integral to membrane cGMP binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3) 49 CCCCACCGACCTGGCTTACTT 0.517000 24 36 0 0 0.004656 0 0 RAVER1 125950 broad.mit.edu 37 19 10433932 10433932 + Nonsense_Mutation SNP C C A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr19:10433932C>A ENST00000293677.6 - 5 1099 c.1018G>T c.(1018-1020)Gga>Tga p.G340* NM_133452.2 NP_597709.2 Q8IY67 RAVR1_HUMAN ribonucleoprotein, PTB-binding 1 323 Interaction with PTBP1 (By similarity). cytoplasm|nucleus nucleotide binding|protein binding|RNA binding breast(1)|endometrium(3)|large_intestine(1)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(2) 18 OV - Ovarian serous cystadenocarcinoma(20;1.81e-09)|Epithelial(33;3.65e-06)|all cancers(31;8.35e-06) GGGAGGAGTCCCTTCCCCCGA 0.672000 14 30 1.5739e-10 1.6673e-10 0.004007 1 0 TBC1D3F 84218 broad.mit.edu 37 17 36288236 36288236 + Missense_Mutation SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr17:36288236G>A ENST00000539424.1 + 2 1747 c.82G>A c.(82-84)Ggc>Agc p.G28S TBC1D3F_ENST00000378174.5_Missense_Mutation_p.G108S|TBC1D3F_ENST00000327454.6_Missense_Mutation_p.G108S|TBC1D3F_ENST00000505415.1_Missense_Mutation_p.G108S A6NER0 TBC3F_HUMAN TBC1 domain family, member 3F 108 intracellular Rab GTPase activator activity liver(1)|pancreas(1) 2 GAACATCCGGGGCCCGATGTG 0.557000 99 1009 0 0 0.014410 0 0 PARP9 83666 broad.mit.edu 37 3 122274967 122274967 + Splice_Site SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr3:122274967C>T ENST00000462315.1 - 4 344 c.49_splice c.e4-1 p.E17_splice PARP9_ENST00000360356.2_Splice_Site_p.E52_splice|PARP9_ENST00000471785.1_Splice_Site_p.E17_splice|PARP9_ENST00000477522.2_Splice_Site_p.E17_splice|PARP9_ENST00000492382.1_Intron NM_001146106.1 NP_001139578.1 Q8IXQ6 PARP9_HUMAN poly (ADP-ribose) polymerase family, member 9 52 cell migration cytosol|nucleus NAD+ ADP-ribosyltransferase activity|protein binding endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3) 34 GBM - Glioblastoma multiforme(114;0.0519) GAGCACCAGTCTCTGGAAAAG 0.333000 9 13 0 0 0.004482 0 0 ADCY8 114 broad.mit.edu 37 8 131859670 131859670 + Splice_Site SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr8:131859670C>T ENST00000286355.5 - 11 4594 c.2502_splice c.e11+1 p.E834_splice ADCY8_ENST00000377928.3_Intron NM_001115.2 NP_001106.1 P40145 ADCY8_HUMAN adenylate cyclase 8 (brain) 834 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|membrane fraction|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2) 134 Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000538) AAATAAATACCTCTGGGTAGG 0.423000 HNSCC(32;0.087) 13 30 0 0 0.001855 0 0 KRTAP10-11 386678 broad.mit.edu 37 21 46066504 46066504 + Silent SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr21:46066504G>A ENST00000334670.8 + 1 174 c.129G>A c.(127-129)ctG>ctA p.L43L TSPEAR_ENST00000323084.4_Intron NM_198692.2 NP_941965.2 P60411 KR109_HUMAN keratin associated protein 10-11 43 25 X 5 AA repeats of C-C-X(3). keratin filament NS(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(2)|prostate(1) 12 CCCCCTCCCTGAGCCTGGTCT 0.711000 18 24 0 0 0.008871 0 0 FAT4 79633 broad.mit.edu 37 4 126372430 126372430 + Missense_Mutation SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr4:126372430G>A ENST00000394329.3 + 9 10272 c.10259G>A c.(10258-10260)gGa>gAa p.G3420E FAT4_ENST00000335110.5_Missense_Mutation_p.G1718E NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 3420 Cadherin 33. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 GTCCCAATAGGAACTCATGTG 0.463000 33 52 0 0 0.004289 0 0 APC 324 broad.mit.edu 37 5 112174607 112174607 + Nonsense_Mutation SNP G G T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr5:112174607G>T ENST00000457016.1 + 16 3696 c.3316G>T c.(3316-3318)Gga>Tga p.G1106* APC_ENST00000508376.2_Nonsense_Mutation_p.G1106*|CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000257430.4_Nonsense_Mutation_p.G1106* P25054 APC_HUMAN adenomatous polyposis coli 1106 Responsible for down-regulation through a process mediated by direct ubiquitination.|Ser-rich. canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity p.G1106*(1)|p.?(1) NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20) 3261 all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133) OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191) CAGGTCACGGGGAGCCAATGG 0.393000 12 """D, Mis, N, F, S""" """colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS""" """colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS""" Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis TSP Lung(16;0.13) 18 6 1.67942e-08 1.77436e-08 0.006122 1 0 UNC45B 146862 broad.mit.edu 37 17 33513465 33513465 + Silent SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr17:33513465C>T ENST00000268876.5 + 20 2780 c.2683C>T c.(2683-2685)Ctg>Ttg p.L895L UNC45B_ENST00000394570.2_Silent_p.L893L|UNC45B_ENST00000591048.1_Silent_p.L814L|UNC45B_ENST00000378449.1_Silent_p.L814L|UNC45B_ENST00000433649.1_Silent_p.L893L NM_173167.2 NP_775259.1 Q8IWX7 UN45B_HUMAN unc-45 homolog B (C. elegans) 895 cell differentiation|muscle organ development cytosol binding breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3) 59 Ovarian(249;0.17) GCTGGAGATCCTGACTGTGGT 0.537000 26 33 0 0 0.003330 0 0 KHK 3795 broad.mit.edu 37 2 27317674 27317674 + Silent SNP G G T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr2:27317674G>T ENST00000260598.5 + 3 694 c.216G>T c.(214-216)ctG>ctT p.L72L KHK_ENST00000490823.1_Intron|KHK_ENST00000260599.6_Intron NM_006488.2 NP_006479.1 P50053 KHK_HUMAN ketohexokinase (fructokinase) 72 fructose catabolic process cytosol ATP binding|ketohexokinase activity|protein binding endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1) 16 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TAAGCTTCCTGGTGGCCGACT 0.622000 20 31 5.26018e-13 5.58719e-13 0.012319 1 0 RGPD4 285190 broad.mit.edu 37 2 108488174 108488174 + Silent SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr2:108488174C>T ENST00000408999.3 + 20 3791 c.3714C>T c.(3712-3714)ccC>ccT p.P1238P RGPD4_ENST00000354986.4_Silent_p.P1238P NM_182588.2 NP_872394.2 Q7Z3J3 RGPD4_HUMAN RANBP2-like and GRIP domain containing 4 1238 intracellular transport binding breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3) 43 CAATAAAACCCAATCCTGAAA 0.418000 114 148 0 0 0.014410 0 0 DIDO1 11083 broad.mit.edu 37 20 61537180 61537180 + Silent SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr20:61537180G>A ENST00000370371.4 - 6 2002 c.1647C>T c.(1645-1647)atC>atT p.I549I DIDO1_ENST00000354665.4_Silent_p.I549I|DIDO1_ENST00000370368.1_Silent_p.I549I|DIDO1_ENST00000395340.1_Intron|DIDO1_ENST00000266071.5_Intron|DIDO1_ENST00000370366.1_Intron|DIDO1_ENST00000266070.4_Intron|DIDO1_ENST00000395335.2_Intron|DIDO1_ENST00000395343.1_Intron NM_022105.4 NP_071388.2 Q9BTC0 DIDO1_HUMAN death inducer-obliterator 1 0 apoptosis|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1) 99 Breast(26;5.68e-08) AGGCCCAGGGGATGGCTATCC 0.562000 37 46 0 0 0.005524 0 0 NEURL3 93082 broad.mit.edu 37 2 97165184 97165184 + RNA SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr2:97165184G>A ENST00000310865.3 - 0 754 neuralized E3 ubiquitin protein ligase 3 CTGGCTGTGGGATCTGAGGCA 0.632000 31 40 0 0 0.010818 0 0 NEFM 4741 broad.mit.edu 37 8 24776032 24776032 + Silent SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr8:24776032G>A ENST00000221166.5 + 3 3446 c.2664G>A c.(2662-2664)gaG>gaA p.E888E NEFM_ENST00000518131.1_Silent_p.E670E|NEFM_ENST00000433454.2_Silent_p.E512E|NEFM_ENST00000521540.1_3'UTR|NEFM_ENST00000437366.2_Silent_p.E849E P07197 NFM_HUMAN neurofilament, medium polypeptide 888 Tail. neurofilament protein binding|structural constituent of cytoskeleton breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1) 36 Prostate(55;0.157) UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375) AGCATGAAGAGACCTTTGAGG 0.418000 59 83 0 0 0.014410 0 0 POLG2 11232 broad.mit.edu 37 17 62487001 62487001 + Missense_Mutation SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr17:62487001G>A ENST00000539111.2 - 4 948 c.881C>T c.(880-882)cCc>cTc p.P294L NM_007215.3 NP_009146.2 Q9UHN1 DPOG2_HUMAN polymerase (DNA directed), gamma 2, accessory subunit 294 DNA repair|DNA-dependent DNA replication|glycyl-tRNA aminoacylation mitochondrial chromosome ATP binding|DNA-directed DNA polymerase activity|glycine-tRNA ligase activity|identical protein binding|single-stranded DNA binding central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(4)|skin(2)|stomach(1)|urinary_tract(1) 15 Breast(5;2.15e-14) BRCA - Breast invasive adenocarcinoma(8;4.97e-11) CTTTCCCCAGGGAAAATTGTA 0.403000 22 28 0 0 0.014323 0 0 KRT35 3886 broad.mit.edu 37 17 39637025 39637025 + Missense_Mutation SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr17:39637025C>T ENST00000246639.2 - 1 367 c.235G>A c.(235-237)Gcc>Acc p.A79T KRT35_ENST00000393989.1_Missense_Mutation_p.A109T Q92764 KRT35_HUMAN keratin 35 109 Head. anatomical structure morphogenesis intermediate filament protein binding|structural molecule activity NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 29 Breast(137;0.000286) AGGTAGCCGGCCAGGCGGTCG 0.632000 27 51 0 0 0.007291 0 0 SOS1 6654 broad.mit.edu 37 2 39285890 39285890 + Missense_Mutation SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr2:39285890G>A ENST00000426016.1 - 4 355 c.269C>T c.(268-270)gCc>gTc p.A90V SOS1_ENST00000395038.2_Missense_Mutation_p.A90V|SOS1_ENST00000402219.2_Missense_Mutation_p.A90V|SOS1_ENST00000428721.2_Missense_Mutation_p.A33V Q07889 SOS1_HUMAN son of sevenless homolog 1 (Drosophila) 90 apoptosis|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction cytosol DNA binding|protein binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2) 75 all_hematologic(82;0.21) AGCTGATTGGGCATCAGCTAT 0.338000 Noonan syndrome 31 22 0 0 0.009535 0 0 OR6C2 341416 broad.mit.edu 37 12 55846618 55846618 + Silent SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr12:55846618C>T ENST00000322678.1 + 1 621 c.621C>T c.(619-621)atC>atT p.I207I RP11-110A12.2_ENST00000554049.1_RNA|RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000555146.1_RNA|RP11-110A12.2_ENST00000556750.1_RNA NM_054105.1 NP_473446.1 Q9NZP2 OR6C2_HUMAN olfactory receptor, family 6, subfamily C, member 2 207 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(2)|large_intestine(5)|lung(8)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 23 CACTCATTATCACCCTAGTTT 0.393000 44 66 0 0 0.010771 0 0 PRKAG3 53632 broad.mit.edu 37 2 219695066 219695066 + Missense_Mutation SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr2:219695066C>T ENST00000439262.2 - 4 288 c.193G>A c.(193-195)Gag>Aag p.E65K PRKAG3_ENST00000545803.1_5'UTR|PRKAG3_ENST00000392098.3_Missense_Mutation_p.E90K|PRKAG3_ENST00000529249.1_Missense_Mutation_p.E90K NM_017431.2 NP_059127.2 Q9UGI9 AAKG3_HUMAN protein kinase, AMP-activated, gamma 3 non-catalytic subunit 90 cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|intracellular protein kinase cascade|regulation of fatty acid oxidation cytosol AMP-activated protein kinase activity|protein kinase binding large_intestine(7)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 20 Renal(207;0.0474) Epithelial(149;4.35e-07)|all cancers(144;8.96e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) AATGTGGCCTCCAGCCCGGTG 0.622000 19 28 0 0 0.008871 0 0 ALDH3B2 222 broad.mit.edu 37 11 67430692 67430692 + Silent SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr11:67430692G>A ENST00000349015.3 - 10 1590 c.1152C>T c.(1150-1152)ctC>ctT p.L384L ALDH3B2_ENST00000530069.1_Silent_p.L384L NM_000695.3 NP_000686.2 P48448 AL3B2_HUMAN aldehyde dehydrogenase 3 family, member B2 384 alcohol metabolic process|cellular aldehyde metabolic process|lipid metabolic process 3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|prostate(2)|stomach(1)|urinary_tract(1) 18 NADH(DB00157) ACGCTCACAGGAGGGTGCAGC 0.587000 71 86 0 0 0.014410 0 0 DGCR14 8220 broad.mit.edu 37 22 19121953 19121953 + Missense_Mutation SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr22:19121953G>A ENST00000252137.6 - 10 1230 c.1187C>T c.(1186-1188)cCa>cTa p.P396L NM_022719.2 NP_073210.1 Q96DF8 DGC14_HUMAN DiGeorge syndrome critical region gene 14 396 nervous system development catalytic step 2 spliceosome breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1) 16 Colorectal(54;0.0993) CTGTAGGGCTGGCGACATGGC 0.672000 22 41 0 0 0.012319 0 0 ZNF682 91120 broad.mit.edu 37 19 20117476 20117476 + Missense_Mutation SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr19:20117476G>A ENST00000397165.2 - 4 995 c.835C>T c.(835-837)Cat>Tat p.H279Y ZNF682_ENST00000397162.1_Missense_Mutation_p.H247Y|ZNF682_ENST00000595736.1_Missense_Mutation_p.H203Y|ZNF682_ENST00000596019.1_Intron|ZNF682_ENST00000358523.5_Missense_Mutation_p.H247Y|ZNF682_ENST00000597972.1_Missense_Mutation_p.H285Y NM_033196.2 NP_149973.1 O95780 ZN682_HUMAN zinc finger protein 682 279 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1) 14 TCTCCTGTATGAATTTTCTTA 0.398000 34 37 0 0 0.012213 0 0 INPP5E 56623 broad.mit.edu 37 9 139324151 139324151 + Silent SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr9:139324151G>A ENST00000371712.3 - 10 2313 c.1911C>T c.(1909-1911)tcC>tcT p.S637S NM_019892.4 NP_063945.2 Q9NRR6 INP5E_HUMAN inositol polyphosphate-5-phosphatase, 72 kDa 637 cilium axoneme|cytoskeleton|Golgi cisterna membrane inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity NS(1)|endometrium(1)|lung(4)|skin(3) 9 Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;8.36e-06)|Epithelial(140;1.4e-05) AGATGGTGCTGGAGTTCTGAC 0.463000 99 126 0 0 0.014410 0 0 NCKAP5 344148 broad.mit.edu 37 2 133489468 133489468 + Missense_Mutation SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr2:133489468G>A ENST00000409261.1 - 17 5658 c.5285C>T c.(5284-5286)tCt>tTt p.S1762F NCKAP5_ENST00000317721.6_Missense_Mutation_p.S1762F|NCKAP5_ENST00000405974.3_Missense_Mutation_p.S443F|NCKAP5_ENST00000409213.1_Missense_Mutation_p.S443F NM_207363.2 NP_997246.2 O14513 NCKP5_HUMAN NCK-associated protein 5 1762 protein binding NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 118 TCTCATGGAAGAAACTGCAGA 0.587000 38 49 0 0 0.007835 0 0 CPEB1 64506 broad.mit.edu 37 15 83226583 83226583 + Missense_Mutation SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr15:83226583G>A ENST00000563800.1 - 4 2339 c.614C>T c.(613-615)tCt>tTt p.S205F CPEB1_ENST00000568757.1_Missense_Mutation_p.S103F|CPEB1_ENST00000568128.1_Missense_Mutation_p.S178F|RP11-379H8.1_ENST00000568285.1_Intron|CPEB1_ENST00000562019.1_Missense_Mutation_p.S178F|CPEB1_ENST00000450751.2_Missense_Mutation_p.S103F|CPEB1_ENST00000423133.2_Missense_Mutation_p.S103F|CPEB1_ENST00000398591.2_Missense_Mutation_p.S103F|CPEB1_ENST00000398592.2_Intron|CPEB1_ENST00000261723.6_Missense_Mutation_p.S181F|CPEB1_ENST00000564522.1_Missense_Mutation_p.S103F Q9BZB8 CPEB1_HUMAN cytoplasmic polyadenylation element binding protein 1 178 Ser-rich. mRNA processing|regulation of translation cell junction|cytoplasmic mRNA processing body|dendrite|postsynaptic density|postsynaptic membrane nucleotide binding|RNA binding breast(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(1)|lung(9)|ovary(1)|skin(1) 28 BRCA - Breast invasive adenocarcinoma(143;0.229) GCTAGATCGAGAGTCCAGGAT 0.537000 34 41 0 0 0.012213 0 0 OR9K2 441639 broad.mit.edu 37 12 55524300 55524300 + Missense_Mutation SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr12:55524300G>A ENST00000305377.5 + 1 836 c.748G>A c.(748-750)Gtt>Att p.V250I NM_001005243.1 NP_001005243.1 Q8NGE7 OR9K2_HUMAN olfactory receptor, family 9, subfamily K, member 2 250 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|breast(3)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(2) 31 TGTGTCCACAGTTCTAAAGAT 0.368000 25 48 0 0 0.005443 0 0 NUP210L 91181 broad.mit.edu 37 1 154002386 154002386 + Missense_Mutation SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr1:154002386C>T ENST00000368559.3 - 28 3912 c.3841G>A c.(3841-3843)Gaa>Aaa p.E1281K NUP210L_ENST00000368553.1_Missense_Mutation_p.E214K|NUP210L_ENST00000271854.3_Missense_Mutation_p.E1281K NM_207308.2 NP_997191.2 Q5VU65 P210L_HUMAN nucleoporin 210kDa-like 1281 integral to membrane NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2) 80 all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128) LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198) ATCTGTACTTCATCAGAGAGT 0.403000 21 30 0 0 0.003330 0 0 STAT4 6775 broad.mit.edu 37 2 192012849 192012849 + Silent SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr2:192012849G>A ENST00000392320.2 - 2 395 c.81C>T c.(79-81)ccC>ccT p.P27P STAT4_ENST00000409995.1_Silent_p.P27P|STAT4_ENST00000358470.4_Silent_p.P27P NM_003151.3 NP_003142.1 Q14765 STAT4_HUMAN signal transducer and activator of transcription 4 27 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) GAATTTCCATGGGAAAGTTGT 0.393000 30 30 0 0 0.007291 0 0 MAFB 9935 broad.mit.edu 37 20 39316830 39316830 + Missense_Mutation SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr20:39316830C>T ENST00000373313.2 - 1 1050 c.661G>A c.(661-663)Gtg>Atg p.V221M MAFB_ENST00000396967.1_Missense_Mutation_p.V221M NM_005461.3 NP_005452.2 Q9Y5Q3 MAFB_HUMAN v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog B 221 negative regulation of erythrocyte differentiation sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding kidney(1)|large_intestine(1) 2 Myeloproliferative disorder(115;0.00878) AGCTCGCGCACGGACATGGAC 0.726000 T IGH@ MM 5 10 0 0 0.000602 0 0 DSG1 1828 broad.mit.edu 37 18 28916319 28916319 + Silent SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr18:28916319C>T ENST00000257192.4 + 9 1220 c.1008C>T c.(1006-1008)ccC>ccT p.P336P NM_001942.2 NP_001933.2 Q02413 DSG1_HUMAN desmoglein 1 336 Cadherin 3. calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization cytosol|desmosome|integral to membrane|internal side of plasma membrane calcium ion binding|gamma-catenin binding|toxin binding NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1) 76 OV - Ovarian serous cystadenocarcinoma(10;0.00559) TTTTCTAGCCCTTAGATTATG 0.289000 8 16 0 0 0.003080 0 0 MEIS1 4211 broad.mit.edu 37 2 66691305 66691305 + Missense_Mutation SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr2:66691305C>T ENST00000488550.1 + 7 994 c.695C>T c.(694-696)tCc>tTc p.S232F MEIS1_ENST00000398506.2_Missense_Mutation_p.S230F|MEIS1_ENST00000444274.2_Missense_Mutation_p.S200F|MEIS1_ENST00000495021.2_Missense_Mutation_p.S167F|MEIS1_ENST00000560281.2_Missense_Mutation_p.S232F|MEIS1_ENST00000272369.9_Missense_Mutation_p.S232F|MEIS1_ENST00000409517.1_3'UTR|MEIS1_ENST00000407092.2_Missense_Mutation_p.S232F O00470 MEIS1_HUMAN Meis homeobox 1 232 Ser/Thr-rich. sequence-specific DNA binding transcription factor activity breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(10)|prostate(2)|skin(1)|urinary_tract(1) 24 CCAGGCCCTTCCAGCGGTGGC 0.493000 5 7 0 0 0.000602 0 0 ZNF782 158431 broad.mit.edu 37 9 99581952 99581952 + Missense_Mutation SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr9:99581952G>A ENST00000481138.1 - 6 1014 c.353C>T c.(352-354)tCa>tTa p.S118L ZNF782_ENST00000535338.1_5'UTR|ZNF782_ENST00000466833.1_5'UTR NM_001001662.1 NP_001001662.1 Q6ZMW2 ZN782_HUMAN zinc finger protein 782 118 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(8)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(3) 33 Acute lymphoblastic leukemia(62;0.0527) TGGTTTTCCTGAAATTTCTTG 0.403000 16 28 0 0 0.004007 0 0 NR1H2 7376 broad.mit.edu 37 19 50880885 50880885 + Missense_Mutation SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr19:50880885C>T ENST00000253727.5 + 3 258 c.23C>T c.(22-24)tCc>tTc p.S8F NR1H2_ENST00000599105.1_Missense_Mutation_p.S8F|NR1H2_ENST00000593926.1_Missense_Mutation_p.S8F|NR1H2_ENST00000542413.1_5'UTR|NR1H2_ENST00000411902.2_Missense_Mutation_p.S8F|NR1H2_ENST00000598168.1_Missense_Mutation_p.S8F NM_007121.5 NP_009052.3 P55055 NR1H2_HUMAN nuclear receptor subfamily 1, group H, member 2 8 negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of lipid transport|negative regulation of pinocytosis|negative regulation of transcription, DNA-dependent|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of triglyceride biosynthetic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor cytoplasm|nucleoplasm sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding endometrium(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(2) 8 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186) ACCACGAGTTCCCTGGATACC 0.567000 16 22 0 0 0.007413 0 0 IGHV2-26 28455 broad.mit.edu 37 14 106757836 106757836 + RNA SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr14:106757836C>T ENST00000390611.2 - 0 194 GCTGACGGATCCAGCTCACAC 0.547000 12 37 0 0 0.013537 0 0 DCHS1 8642 broad.mit.edu 37 11 6662256 6662256 + Missense_Mutation SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr11:6662256G>A ENST00000299441.3 - 2 1000 c.589C>T c.(589-591)Ccc>Tcc p.P197S NM_003737.2 NP_003728.1 Q96JQ0 PCD16_HUMAN dachsous cadherin-related 1 197 Cadherin 2. calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4) 103 Medulloblastoma(188;0.00263)|all_neural(188;0.026) Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) TCTGGACCGGGGCGTGTCTCC 0.597000 31 34 0 0 0.003271 0 0 NES 10763 broad.mit.edu 37 1 156640816 156640816 + Missense_Mutation SNP G G T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr1:156640816G>T ENST00000368223.3 - 4 3296 c.3164C>A c.(3163-3165)gCt>gAt p.A1055D NM_006617.1 NP_006608.1 P48681 NEST_HUMAN nestin 1055 Tail. brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation cytoplasm|intermediate filament intermediate filament binding|structural molecule activity central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4) 64 all_hematologic(923;0.088)|Hepatocellular(266;0.158) CCCCTGGGGAGCCTGGAGGCC 0.662000 44 38 9.39024e-22 1.00544e-21 0.009718 1 0 PBRM1 55193 broad.mit.edu 37 3 52620643 52620643 + Missense_Mutation SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr3:52620643C>T ENST00000356770.4 - 19 3091 c.3089G>A c.(3088-3090)cGg>cAg p.R1030Q PBRM1_ENST00000409767.1_Missense_Mutation_p.R1077Q|PBRM1_ENST00000409114.3_Missense_Mutation_p.R1077Q|PBRM1_ENST00000409057.1_Missense_Mutation_p.R1062Q|PBRM1_ENST00000410007.1_Missense_Mutation_p.R1037Q|PBRM1_ENST00000296302.7_Missense_Mutation_p.R1062Q|PBRM1_ENST00000394830.3_Missense_Mutation_p.R1037Q|PBRM1_ENST00000337303.4_Missense_Mutation_p.R1062Q Q86U86 PB1_HUMAN polybromo 1 1062 BAH 1. chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear chromosome chromatin binding|DNA binding|protein binding breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1) 335 BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613) GGCAGAATACCGTGATTCACA 0.448000 """Mis, N, F, S, D, O""" """clear cell renal carcinoma, breast""" 25 34 0 0 0.003330 0 0 HYDIN 54768 broad.mit.edu 37 16 71012907 71012907 + Silent SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr16:71012907C>T ENST00000393567.2 - 30 4698 c.4548G>A c.(4546-4548)agG>agA p.R1516R NM_001270974.1 NP_001257903.1 Q4G0P3 HYDIN_HUMAN HYDIN, axonemal central pair apparatus protein 1516 breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 43 Ovarian(137;0.0654) CTGTGTTTTTCCTGGCTTGAT 0.433000 14 31 0 0 0.010504 0 0 MUC16 94025 broad.mit.edu 37 19 9077809 9077809 + Missense_Mutation SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr19:9077809C>T ENST00000397910.4 - 3 9840 c.9637G>A c.(9637-9639)Gaa>Aaa p.E3213K NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 3214 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 ATGCTGGGTTCCTTGGAGCTC 0.478000 78 97 0 0 0.014410 0 0 MYH7 4625 broad.mit.edu 37 14 23894992 23894992 + Missense_Mutation SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr14:23894992C>T ENST00000355349.3 - 20 2360 c.2198G>A c.(2197-2199)gGa>gAa p.G733E NM_000257.2 NP_000248.2 P12883 MYH7_HUMAN myosin, heavy chain 7, cardiac muscle, beta 733 Myosin head-like. G -> E (in CMH1). adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 137 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00725) AATGAACTGTCCCTCAGGGAT 0.542000 31 50 0 0 0.003755 0 0 LPA 4018 broad.mit.edu 37 6 160968946 160968946 + Missense_Mutation SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr6:160968946C>T ENST00000447678.1 - 33 5299 c.5179G>A c.(5179-5181)Gga>Aga p.G1727R LPA_ENST00000316300.5_Missense_Mutation_p.G1727R NM_005577.2 NP_005568.2 P08519 APOA_HUMAN lipoprotein, Lp(a) 4235 Kringle 16. blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis plasma lipoprotein particle apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1) 107 Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965) OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06) Aminocaproic Acid(DB00513) CCCCGGTATCCTTTCCCATTC 0.488000 20 34 0 0 0.008871 0 0 ZFHX3 463 broad.mit.edu 37 16 72828134 72828134 + Missense_Mutation SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr16:72828134G>A ENST00000268489.5 - 9 9119 c.8447C>T c.(8446-8448)cCc>cTc p.P2816L ZFHX3_ENST00000397992.5_Missense_Mutation_p.P1902L NM_006885.3 NP_008816.3 Q15911 ZFHX3_HUMAN zinc finger homeobox 3 2816 muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation transcription factor complex enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11) 153 Ovarian(137;0.13) GGACATGGAGGGGCTTTCAAA 0.463000 51 47 0 0 0.014410 0 0 INPP5A 3632 broad.mit.edu 37 10 134563050 134563050 + Silent SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr10:134563050G>A ENST00000368594.3 + 10 1039 c.762G>A c.(760-762)acG>acA p.T254T INPP5A_ENST00000368593.3_Silent_p.T254T NM_005539.3 NP_005530.3 Q14642 I5P1_HUMAN inositol polyphosphate-5-phosphatase, 40kDa 254 cell communication membrane inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|PH domain binding cervix(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 all_cancers(35;8.59e-13)|all_epithelial(44;5.49e-09)|Lung NSC(174;0.000854)|all_lung(145;0.00146)|all_neural(114;0.0299)|Colorectal(31;0.0599)|Breast(234;0.0849)|Melanoma(40;0.124)|all_hematologic(284;0.196)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;0.000102)|Epithelial(32;0.00023)|all cancers(32;0.000326) CCATGCAGACGGTCCGGGCCG 0.622000 18 36 0 0 0.007413 0 0 PHLPP1 23239 broad.mit.edu 37 18 60645673 60645673 + Missense_Mutation SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr18:60645673C>T ENST00000400316.4 + 17 4408 c.2627C>T c.(2626-2628)gCc>gTc p.A876V PHLPP1_ENST00000262719.5_Missense_Mutation_p.A1388V NM_194449.3 NP_919431.2 O60346 PHLP1_HUMAN PH domain and leucine rich repeat protein phosphatase 1 1388 apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling cytosol|membrane|nucleus metal ion binding|protein serine/threonine phosphatase activity endometrium(2)|kidney(2)|lung(13) 17 GCCGTGGAAGCCGTGCGCAAC 0.642000 8 6 0 0 0.010729 0 0 ZNF205 7755 broad.mit.edu 37 16 3168912 3168912 + Missense_Mutation SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr16:3168912C>T ENST00000382192.3 + 6 696 c.491C>T c.(490-492)cCc>cTc p.P164L ZNF205_ENST00000219091.4_Missense_Mutation_p.P164L|RP11-473M20.14_ENST00000576490.1_RNA|RP11-473M20.14_ENST00000575139.1_RNA NM_001278158.1|NM_003456.2 NP_001265087.1|NP_003447.2 O95201 ZN205_HUMAN zinc finger protein 205 164 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 20 GCAGGCTTTCCCTTCAGCAGG 0.642000 62 63 0 0 0.014410 0 0 NUP210 23225 broad.mit.edu 37 3 13377097 13377097 + Missense_Mutation SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr3:13377097G>A ENST00000254508.5 - 28 3782 c.3700C>T c.(3700-3702)Ccg>Tcg p.P1234S NM_024923.2 NP_079199.2 Q8TEM1 PO210_HUMAN nucleoporin 210kDa 1234 carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction endoplasmic reticulum membrane|nuclear membrane|nuclear pore p.P1234S(1) NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2) 66 all_neural(104;0.187) TACTGTGACGGGAGTCGGATC 0.612000 18 35 0 0 0.008871 0 0 HYDIN 54768 broad.mit.edu 37 16 71015379 71015379 + Silent SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr16:71015379G>A ENST00000393567.2 - 29 4575 c.4425C>T c.(4423-4425)atC>atT p.I1475I NM_001270974.1 NP_001257903.1 Q4G0P3 HYDIN_HUMAN HYDIN, axonemal central pair apparatus protein 1475 breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 43 Ovarian(137;0.0654) CCAGGTGGGCGATCTGTATCT 0.478000 32 61 0 0 0.011902 0 0 TRHDE 29953 broad.mit.edu 37 12 72956810 72956810 + Nonsense_Mutation SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr12:72956810C>T ENST00000261180.4 + 9 1993 c.1897C>T c.(1897-1899)Cag>Tag p.Q633* TRHDE_ENST00000549138.1_3'UTR NM_013381.2 NP_037513.1 Q9UKU6 TRHDE_HUMAN thyrotropin-releasing hormone degrading enzyme 633 cell-cell signaling|proteolysis|signal transduction integral to plasma membrane aminopeptidase activity|metallopeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 79 ACTTAAACTTCAGAATAACAG 0.274000 47 50 0 0 0.014410 0 0 UNC79 57578 broad.mit.edu 37 14 94088518 94088518 + Missense_Mutation SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr14:94088518G>A ENST00000553484.1 + 31 5159 c.5005G>A c.(5005-5007)Gaa>Aaa p.E1669K UNC79_ENST00000256339.4_Missense_Mutation_p.E1470K|UNC79_ENST00000555664.1_Missense_Mutation_p.E1647K|UNC79_ENST00000393151.2_Missense_Mutation_p.E1647K Q9P2D8 UNC79_HUMAN unc-79 homolog (C. elegans) 1647 integral to membrane breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4) 118 CGAGAGTGACGAAGAAGAGGA 0.552000 37 43 0 0 0.003271 0 0 AGXT 189 broad.mit.edu 37 2 241808730 241808730 + Silent SNP G G A rs145419586 TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr2:241808730G>A ENST00000307503.3 + 2 696 c.309G>A c.(307-309)ggG>ggA p.G103G NM_000030.2 NP_000021.1 P21549 SPYA_HUMAN alanine-glyoxylate aminotransferase 103 glyoxylate metabolic process|protein targeting to peroxisome mitochondrial matrix|peroxisomal matrix alanine-glyoxylate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|serine-pyruvate transaminase activity central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(9)|ovary(1)|prostate(1) 18 all_epithelial(40;1.61e-15)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15) Glycine(DB00145)|L-Alanine(DB00160)|L-Serine(DB00133)|Pyridoxal Phosphate(DB00114) TCCTGGTTGGGGCCAATGGCA 0.642000 47 61 0 0 0.014410 0 0 DNAAF1 123872 broad.mit.edu 37 16 84189324 84189324 + Silent SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr16:84189324C>T ENST00000378553.5 + 5 835 c.711C>T c.(709-711)atC>atT p.I237I DNAAF1_ENST00000334315.5_Silent_p.I237I NM_178452.4 NP_848547.4 Q8NEP3 DAAF1_HUMAN dynein, axonemal, assembly factor 1 237 axonemal dynein complex assembly|cilium morphogenesis cilium axoneme|cytoplasm|spindle pole dynein binding NS(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(4)|urinary_tract(1) 41 ACCCGGAGATCCTGAGCATTC 0.433000 22 34 0 0 0.012319 0 0 DPF1 8193 broad.mit.edu 37 19 38709272 38709272 + Missense_Mutation SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr19:38709272G>A ENST00000416611.1 - 5 583 c.460C>T c.(460-462)Ctc>Ttc p.L154F DPF1_ENST00000456296.1_Missense_Mutation_p.L154F|DPF1_ENST00000355526.4_Missense_Mutation_p.L180F|DPF1_ENST00000414789.1_Missense_Mutation_p.L98F|DPF1_ENST00000420980.2_Missense_Mutation_p.L180F|DPF1_ENST00000412732.1_Missense_Mutation_p.L98F Q92782 DPF1_HUMAN D4, zinc and double PHD fingers family 1 180 induction of apoptosis|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nBAF complex zinc ion binding large_intestine(1)|lung(4)|ovary(1)|skin(1) 7 all_cancers(60;1.24e-06) Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292) TCCACCTCGAGGTCATGCGGA 0.557000 26 32 0 0 0.004656 0 0 VWA3B 200403 broad.mit.edu 37 2 98744845 98744845 + Silent SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr2:98744845G>A ENST00000477737.1 + 6 1050 c.846G>A c.(844-846)aaG>aaA p.K282K VWA3B_ENST00000451075.2_Silent_p.K132K|VWA3B_ENST00000435344.1_Silent_p.K282K NM_144992.4 NP_659429.4 Q502W6 VWA3B_HUMAN von Willebrand factor A domain containing 3B 282 NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 70 CTTTTCTAAAGGATCTGAGTG 0.527000 21 28 0 0 0.002780 0 0 ST6GALNAC1 55808 broad.mit.edu 37 17 74621517 74621517 + Silent SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr17:74621517G>A ENST00000156626.7 - 9 1897 c.1698C>T c.(1696-1698)aaC>aaT p.N566N NM_018414.3 NP_060884.1 Q9NSC7 SIA7A_HUMAN ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 1 566 protein glycosylation integral to Golgi membrane alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1) 22 TGAAGTCATGGTTTATGTAAA 0.493000 23 34 0 0 0.003330 0 0 FYB 2533 broad.mit.edu 37 5 39202457 39202457 + Silent SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr5:39202457C>T ENST00000351578.6 - 2 796 c.606G>A c.(604-606)ccG>ccA p.P202P FYB_ENST00000540520.1_Silent_p.P212P|FYB_ENST00000505428.1_Silent_p.P202P|FYB_ENST00000512982.1_Silent_p.P202P|FYB_ENST00000515010.1_Silent_p.P202P NM_199335.3 NP_955367.1 O15117 FYB_HUMAN FYN binding protein 202 cell junction assembly|immune response|intracellular protein kinase cascade|NLS-bearing substrate import into nucleus|protein phosphorylation|T cell receptor signaling pathway cytosol|nucleus protein binding endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1) 45 all_lung(31;0.000343) Epithelial(62;0.235) TACTTAGGGGCGGCTTCTGGC 0.522000 41 11 0 0 0.007835 0 0 MYH7 4625 broad.mit.edu 37 14 23899827 23899827 + Missense_Mutation SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr14:23899827G>A ENST00000355349.3 - 11 1103 c.941C>T c.(940-942)tCc>tTc p.S314F NM_000257.2 NP_000248.2 P12883 MYH7_HUMAN myosin, heavy chain 7, cardiac muscle, beta 314 Myosin head-like. adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 137 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00725) CTCTCCTTGGGAGATGAATGC 0.567000 17 27 0 0 0.012319 0 0 PRIM2 5558 broad.mit.edu 37 6 57246869 57246869 + Missense_Mutation SNP A A C TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr6:57246869A>C ENST00000607273.1 + 7 683 c.596A>C c.(595-597)aAa>aCa p.K199T PRIM2_ENST00000389488.2_3'UTR NM_000947.2 NP_000938.2 P49643 PRI2_HUMAN primase, DNA, polypeptide 2 (58kDa) 199 DNA replication, synthesis of RNA primer|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication alpha DNA polymerase:primase complex|nucleoplasm 4 iron, 4 sulfur cluster binding|DNA binding|DNA primase activity|metal ion binding NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(34)|prostate(6)|stomach(4)|upper_aerodigestive_tract(1) 59 Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193) CGAGGAAGGAAAGTCTATTTG 0.408000 12 45 0 0 0.013537 0 0 TACC2 10579 broad.mit.edu 37 10 123848060 123848060 + Missense_Mutation SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr10:123848060G>A ENST00000369005.1 + 5 5867 c.5527G>A c.(5527-5529)Gat>Aat p.D1843N TACC2_ENST00000334433.3_Missense_Mutation_p.D1843N|TACC2_ENST00000453444.2_Missense_Mutation_p.D1843N|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000515603.1_Missense_Mutation_p.D1843N|TACC2_ENST00000515273.1_Missense_Mutation_p.D1843N|TACC2_ENST00000513429.1_Intron NM_206862.2 NP_996744.2 O95359 TACC2_HUMAN transforming, acidic coiled-coil containing protein 2 1843 microtubule organizing center|nucleus nuclear hormone receptor binding NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 83 all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197) AAGAGTCATGGATAAAGTCAC 0.458000 15 26 0 0 0.004990 0 0 ADAM2 2515 broad.mit.edu 37 8 39626980 39626980 + Silent SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr8:39626980G>A ENST00000265708.4 - 12 1246 c.1143C>T c.(1141-1143)ttC>ttT p.F381F ADAM2_ENST00000521880.1_Silent_p.F381F|ADAM2_ENST00000347580.4_Silent_p.F362F|ADAM2_ENST00000379853.2_Silent_p.F255F NM_001464.3 NP_001455.3 Q99965 ADAM2_HUMAN ADAM metallopeptidase domain 2 381 cell adhesion|fusion of sperm to egg plasma membrane|proteolysis integral to plasma membrane integrin binding|metalloendopeptidase activity|zinc ion binding haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1) 53 all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246) LUSC - Lung squamous cell carcinoma(45;0.000149) READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162) CTTGCTGTTTGAAAAAAGGAT 0.443000 16 26 0 0 0.006122 0 0 NTRK1 4914 broad.mit.edu 37 1 156849090 156849090 + Missense_Mutation SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr1:156849090G>A ENST00000368196.3 + 14 2084 c.1964G>A c.(1963-1965)gGa>gAa p.G655E NTRK1_ENST00000524377.1_Missense_Mutation_p.G661E|NTRK1_ENST00000392302.2_Missense_Mutation_p.G625E|NTRK1_ENST00000358660.3_Missense_Mutation_p.G658E NM_001012331.1 NP_001012331.1 P04629 NTRK1_HUMAN neurotrophic tyrosine kinase, receptor, type 1 661 Protein kinase. activation of adenylate cyclase activity|activation of MAPKK activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling|Ras protein signal transduction endosome|integral to plasma membrane ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 74 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) Imatinib(DB00619) GTGGGCCAGGGACTGGTGGTC 0.587000 T """TPM3, TPR, TFG""" papillary thyroid TSP Lung(10;0.080) 32 38 0 0 0.010818 0 0 RRN3P1 730092 broad.mit.edu 37 16 21817457 21817457 + RNA SNP G G A rs150520281 by1000genomes TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr16:21817457G>A ENST00000546471.1 - 0 1601 CTTACATCCAGCTTGAGTAGT 0.259000 3 24 0 0 0.000602 0 0 LCP1 3936 broad.mit.edu 37 13 46721144 46721144 + Missense_Mutation SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr13:46721144C>T ENST00000398576.2 - 13 1461 c.1073G>A c.(1072-1074)gGg>gAg p.G358E LCP1_ENST00000323076.2_Missense_Mutation_p.G358E P13796 PLSL_HUMAN lymphocyte cytosolic protein 1 (L-plastin) 358 Actin-binding 1.|CH 2. regulation of intracellular protein transport|T cell activation involved in immune response cell junction|cytosol|ruffle membrane calcium ion binding breast(2)|kidney(1)|large_intestine(6)|lung(18)|ovary(4)|prostate(2)|skin(1) 34 Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;5.39e-05) CTTGGGGTTCCCTCGGACAAC 0.542000 T BCL6 NHL 38 44 0 0 0.004878 0 0 PRKAG3 53632 broad.mit.edu 37 2 219695067 219695067 + Silent SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr2:219695067C>T ENST00000439262.2 - 4 287 c.192G>A c.(190-192)ctG>ctA p.L64L PRKAG3_ENST00000545803.1_5'UTR|PRKAG3_ENST00000392098.3_Silent_p.L89L|PRKAG3_ENST00000529249.1_Silent_p.L89L NM_017431.2 NP_059127.2 Q9UGI9 AAKG3_HUMAN protein kinase, AMP-activated, gamma 3 non-catalytic subunit 89 cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|intracellular protein kinase cascade|regulation of fatty acid oxidation cytosol AMP-activated protein kinase activity|protein kinase binding large_intestine(7)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 20 Renal(207;0.0474) Epithelial(149;4.35e-07)|all cancers(144;8.96e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) ATGTGGCCTCCAGCCCGGTGG 0.617000 18 29 0 0 0.007413 0 0 CNTN4 152330 broad.mit.edu 37 3 2928860 2928860 + Missense_Mutation SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr3:2928860G>A ENST00000397461.1 + 9 1276 c.892G>A c.(892-894)Gaa>Aaa p.E298K CNTN4_ENST00000418658.1_Missense_Mutation_p.E298K|CNTN4_ENST00000427331.1_Missense_Mutation_p.E298K|CNTN4_ENST00000358480.3_Missense_Mutation_p.E79K NM_001206955.1 NP_001193884.1 Q8IWV2 CNTN4_HUMAN contactin 4 298 Ig-like C2-type 3. 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) ATGTGTAGCTGAAAATTCCAG 0.378000 7 17 0 0 0.003080 0 0 SFRP2 6423 broad.mit.edu 37 4 154702656 154702656 + Missense_Mutation SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr4:154702656C>T ENST00000274063.4 - 3 1119 c.835G>A c.(835-837)Ggg>Agg p.G279R NM_003013.2 NP_003004.1 Q96HF1 SFRP2_HUMAN secreted frizzled-related protein 2 279 NTR. brain development|cardiac left ventricle morphogenesis|cell-cell signaling|dermatome development|hemopoietic stem cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell growth|negative regulation of cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of transcription, DNA-dependent|outflow tract morphogenesis|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell adhesion mediated by integrin|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of fat cell differentiation|positive regulation of peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of stem cell division|sclerotome development cytoplasm|extracellular matrix|extracellular space|plasma membrane fibronectin binding|integrin binding|PDZ domain binding|receptor agonist activity|Wnt receptor activity|Wnt-protein binding breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(1)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 16 all_hematologic(180;0.093) Renal(120;0.117) TCTCTCTGCCCCTTCTGCCAC 0.612000 23 23 0 0 0.003330 0 0 RBP4 5950 broad.mit.edu 37 10 95360699 95360699 + Silent SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr10:95360699G>A ENST00000371467.1 - 2 406 c.87C>T c.(85-87)gtC>gtT p.V29V RBP4_ENST00000371464.3_Silent_p.V29V|RBP4_ENST00000371469.2_Silent_p.V27V|FFAR4_ENST00000604414.1_Intron P02753 RET4_HUMAN retinol binding protein 4, plasma 29 cardiac muscle tissue development|embryonic organ morphogenesis|embryonic retina morphogenesis in camera-type eye|embryonic skeletal system development|female genitalia morphogenesis|gluconeogenesis|glucose homeostasis|heart trabecula formation|lung development|maintenance of gastrointestinal epithelium|negative regulation of cardiac muscle cell proliferation|positive regulation of immunoglobulin secretion|positive regulation of insulin secretion|response to retinoic acid|retinol metabolic process|urinary bladder development|uterus development|vagina development extracellular space protein binding|retinal binding|retinol binding large_intestine(1)|lung(3)|skin(1) 5 Colorectal(252;0.122) Vitamin A(DB00162) AGTTCTCCTTGACTCGGAAGC 0.716000 14 22 0 0 0.002450 0 0 USP4 7375 broad.mit.edu 37 3 49348150 49348150 + Missense_Mutation SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr3:49348150G>A ENST00000351842.4 - 7 724 c.716C>T c.(715-717)tCg>tTg p.S239L USP4_ENST00000488520.1_5'UTR|USP4_ENST00000265560.4_Missense_Mutation_p.S286L NM_199443.2 NP_955475.1 Q13107 UBP4_HUMAN ubiquitin specific peptidase 4 (proto-oncogene) 286 negative regulation of protein ubiquitination|protein deubiquitination|protein localization at cell surface|regulation of protein stability|ubiquitin-dependent protein catabolic process lysosome|nucleus adenosine receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 33 Ovarian(412;0.00308)|Myeloproliferative disorder(1037;0.0255)|Hepatocellular(537;0.121) OV - Ovarian serous cystadenocarcinoma(275;4.74e-26)|Kidney(197;2.22e-07)|KIRC - Kidney renal clear cell carcinoma(197;5.14e-06)|BRCA - Breast invasive adenocarcinoma(193;9.46e-05) ACAATTATACGAAGCAGAAAA 0.468000 22 20 0 0 0.002780 0 0 BANK1 55024 broad.mit.edu 37 4 102791789 102791789 + Silent SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr4:102791789G>A ENST00000504592.1 + 9 1264 c.846G>A c.(844-846)gaG>gaA p.E282E BANK1_ENST00000508653.1_Silent_p.E164E|BANK1_ENST00000428908.1_Silent_p.E164E|BANK1_ENST00000444316.2_Silent_p.E267E|BANK1_ENST00000322953.4_Silent_p.E297E Q8NDB2 BANK1_HUMAN B-cell scaffold protein with ankyrin repeats 1 297 DBB. B cell activation NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|liver(2)|lung(16)|ovary(2)|skin(2)|urinary_tract(1) 44 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;2.7e-07) ATTCAGGAGAGAGTTTGTGCC 0.378000 12 16 0 0 0.010729 0 0 SPATA17 128153 broad.mit.edu 37 1 217975134 217975134 + Missense_Mutation SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr1:217975134C>T ENST00000366933.4 + 9 1002 c.947C>T c.(946-948)cCt>cTt p.P316L SPATA17_ENST00000471021.1_3'UTR NM_138796.2 NP_620151.1 Q96L03 SPT17_HUMAN spermatogenesis associated 17 316 cytoplasm calmodulin binding endometrium(1)|kidney(1)|large_intestine(9)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(1) 21 OV - Ovarian serous cystadenocarcinoma(81;0.0516)|all cancers(67;0.0891)|GBM - Glioblastoma multiforme(131;0.117) AAGTATGGTCCTATTTCTTAC 0.294000 12 13 0 0 0.003163 0 0 POMGNT2 84892 broad.mit.edu 37 3 43122023 43122023 + Silent SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr3:43122023G>A ENST00000344697.2 - 2 1246 c.901C>T c.(901-903)Ctg>Ttg p.L301L GTDC2_ENST00000441964.1_Silent_p.L301L NM_032806.4 NP_116195.2 GCCTCATTCAGAATGAGTCTG 0.552000 25 22 0 0 0.003330 0 0 RNLS 55328 broad.mit.edu 37 10 90034757 90034757 + Silent SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr10:90034757C>T ENST00000371947.3 - 7 2248 c.909G>A c.(907-909)gcG>gcA p.A303A RNLS_ENST00000437752.1_Silent_p.A220A NM_018363.3 NP_060833.1 Q5VYX0 RNLS_HUMAN renalase, FAD-dependent amine oxidase 0 extracellular region oxidoreductase activity breast(1)|kidney(1)|lung(3)|ovary(1)|prostate(1) 7 AGGGGCTCTTCGCACATCCTA 0.448000 17 31 0 0 0.010504 0 0 TMEM132D 121256 broad.mit.edu 37 12 129559541 129559541 + Missense_Mutation SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr12:129559541C>T ENST00000422113.2 - 9 2505 c.2179G>A c.(2179-2181)Gat>Aat p.D727N TMEM132D_ENST00000389441.4_Missense_Mutation_p.D265N NM_133448.2 NP_597705.2 Q14C87 T132D_HUMAN transmembrane protein 132D 727 integral to membrane NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2) 152 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.0934)|Breast(359;0.133) OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246) TCTTTCCCATCGTAAATATCC 0.468000 23 40 0 0 0.004656 0 0 DNAH17 8632 broad.mit.edu 37 17 76455104 76455104 + Silent SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr17:76455104G>A ENST00000389840.5 - 61 9922 c.9798C>T c.(9796-9798)tcC>tcT p.S3266S DNAH17_ENST00000585328.1_Silent_p.S3275S|DNAH17_ENST00000586052.1_5'UTR dynein, axonemal, heavy chain 17 NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 116 BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656) TTTTGATCCGGGACAGCTTCT 0.582000 38 51 0 0 0.003755 0 0 ABCG1 9619 broad.mit.edu 37 21 43693414 43693414 + Splice_Site SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr21:43693414G>A ENST00000398437.1 + 5 992 c.842_splice c.e5-1 p.E282_splice ABCG1_ENST00000340588.4_Splice_Site_p.E244_splice|ABCG1_ENST00000347800.2_Splice_Site_p.E133_splice|ABCG1_ENST00000398449.3_Splice_Site_p.E136_splice|ABCG1_ENST00000398457.2_Splice_Site_p.E138_splice|ABCG1_ENST00000361802.2_Splice_Site_p.E136_splice|ABCG1_ENST00000343687.3_Splice_Site_p.E147_splice|ABCG1_ENST00000462050.1_3'UTR P45844 ABCG1_HUMAN ATP-binding cassette, sub-family G (WHITE), member 1 136 ABC transporter. amyloid precursor protein catabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|detection of hormone stimulus|high-density lipoprotein particle remodeling|intracellular cholesterol transport|lipoprotein metabolic process|low-density lipoprotein particle remodeling|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|positive regulation of cholesterol biosynthetic process|regulation of cholesterol esterification|regulation of transcription, DNA-dependent|response to lipid|reverse cholesterol transport endoplasmic reticulum membrane|external side of plasma membrane|Golgi membrane|recycling endosome ADP binding|ATP binding|cholesterol transporter activity|glycoprotein transporter activity|phospholipid transporter activity|protein heterodimerization activity|protein homodimerization activity|sterol-transporting ATPase activity|toxin transporter activity breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(3)|prostate(2)|stomach(1) 29 Adenosine triphosphate(DB00171) GTTCTGCAGGGAGACGGGCAT 0.667000 50 56 0 0 0.014410 0 0 HDAC3 8841 broad.mit.edu 37 5 141004874 141004874 + Missense_Mutation SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr5:141004874G>A ENST00000305264.3 - 14 1197 c.1118C>T c.(1117-1119)cCt>cTt p.P373L AC008781.7_ENST00000422040.1_RNA|HDAC3_ENST00000469207.1_5'UTR NM_003883.3 NP_003874.2 O15379 HDAC3_HUMAN histone deacetylase 3 373 anti-apoptosis|cellular lipid metabolic process|negative regulation of cell cycle|negative regulation of JNK cascade|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|spindle assembly|transcription, DNA-dependent cytoplasm|histone deacetylase complex|spindle microtubule|transcriptional repressor complex histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|transcription corepressor activity|transcription factor binding endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 13 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) Vorinostat(DB02546) CTGGACACTAGGTGCATGGTT 0.502000 91 20 0 0 0.014410 0 0 PLCL2 23228 broad.mit.edu 37 3 17053118 17053118 + Silent SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr3:17053118C>T ENST00000418129.2 + 2 2367 c.1902C>T c.(1900-1902)atC>atT p.I634I PLCL2_ENST00000396755.2_Silent_p.I634I|PLCL2_ENST00000432376.1_Silent_p.I634I NM_001144382.1 NP_001137854.1 Q9UPR0 PLCL2_HUMAN phospholipase C-like 2 760 PI-PLC Y-box. intracellular signal transduction|lipid metabolic process cytoplasm calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1) 43 ACATTAAAATCATCAGTGGGC 0.488000 12 18 0 0 0.010729 0 0 INPPL1 3636 broad.mit.edu 37 11 71939529 71939529 + Silent SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr11:71939529C>T ENST00000298229.2 + 3 588 c.384C>T c.(382-384)gaC>gaT p.D128D INPPL1_ENST00000538751.1_5'UTR|INPPL1_ENST00000541756.1_5'UTR NM_001567.3 NP_001558.3 O15357 SHIP2_HUMAN inositol polyphosphate phosphatase-like 1 128 actin filament organization|cell adhesion|endocytosis actin cortical patch|cytosol actin binding|SH2 domain binding|SH3 domain binding breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 44 CACCGGATGACCGGGATGCCT 0.647000 28 62 0 0 0.007291 0 0 CXADRP3 440224 broad.mit.edu 37 18 14478346 14478346 + RNA SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr18:14478346G>A ENST00000581457.1 - 0 1562 NR_024076.1 ATGTTGGAAGGAGACATGGAT 0.498000 11 10 0 0 0.008291 0 0 MATR3 9782 broad.mit.edu 37 5 138651821 138651821 + Missense_Mutation SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr5:138651821C>T ENST00000394800.2 + 9 1622 c.1073C>T c.(1072-1074)cCt>cTt p.P358L MATR3_ENST00000394805.3_Missense_Mutation_p.P358L|MATR3_ENST00000502929.1_Missense_Mutation_p.P358L|MATR3_ENST00000503811.1_Missense_Mutation_p.P70L|MATR3_ENST00000510056.1_Missense_Mutation_p.P358L|MATR3_ENST00000504203.1_Missense_Mutation_p.P20L|MATR3_ENST00000502499.1_Missense_Mutation_p.P20L|MATR3_ENST00000361059.2_Missense_Mutation_p.P358L|MATR3_ENST00000509990.1_Missense_Mutation_p.P358L P43243 MATR3_HUMAN matrin 3 358 nuclear inner membrane|nuclear matrix nucleotide binding|protein binding|RNA binding|structural molecule activity|zinc ion binding breast(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 29 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325) ATTCTGGGACCTCCACCTCCC 0.413000 37 9 0 0 0.007835 0 0 ALB 213 broad.mit.edu 37 4 74276095 74276095 + Missense_Mutation SNP C C A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr4:74276095C>A ENST00000295897.4 + 6 771 c.682C>A c.(682-684)Caa>Aaa p.Q228K ALB_ENST00000503124.1_Missense_Mutation_p.Q78K|ALB_ENST00000505649.1_3'UTR|ALB_ENST00000401494.3_Missense_Mutation_p.Q113K|ALB_ENST00000415165.2_Intron|ALB_ENST00000509063.1_Missense_Mutation_p.Q228K NM_000477.5 NP_000468.1 P02768 ALBU_HUMAN albumin 228 Albumin 2. bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport extracellular space|platelet alpha granule lumen|protein complex antioxidant activity|chaperone binding|copper ion binding|DNA binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1) 48 Breast(15;0.00102) Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin iodonated(DB00064)|Serum albumin(DB00096)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137) TGCCAGTCTCCAAAAATTTGG 0.363000 31 43 2.49534e-26 2.67662e-26 0.010818 1 0 TTN 7273 broad.mit.edu 37 2 179469891 179469891 + Missense_Mutation SNP T T A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr2:179469891T>A ENST00000589042.1 - 280 54237 c.54013A>T c.(54013-54015)Act>Tct p.T18005S TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.T9065S|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.T9132S|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.T16364S|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.T15437S|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.T8940S NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 16364 Fibronectin type-III 30. 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) TCAATTACAGTTTCATTTTTG 0.468000 27 23 0 0 0.004656 0 0 LRP1B 53353 broad.mit.edu 37 2 141777574 141777574 + Silent SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr2:141777574C>T ENST00000389484.3 - 12 2858 c.1887G>A c.(1885-1887)ctG>ctA p.L629L NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 629 protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) AAGCTTTTTCCAGCCTGGCCA 0.428000 TSP Lung(27;0.18) 38 45 0 0 0.004289 0 0 KIAA1468 57614 broad.mit.edu 37 18 59895792 59895792 + Missense_Mutation SNP T T A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr18:59895792T>A ENST00000256858.6 + 8 1657 c.1409T>A c.(1408-1410)cTa>cAa p.L470Q KIAA1468_ENST00000592479.1_3'UTR|KIAA1468_ENST00000398130.2_Missense_Mutation_p.L470Q Q9P260 K1468_HUMAN KIAA1468 470 binding autonomic_ganglia(1)|breast(4)|endometrium(4)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 47 Colorectal(73;0.186) CCTTCTTCTCTATCAAGTAAA 0.358000 13 16 0 0 0.001855 0 0 EPHA7 2045 broad.mit.edu 37 6 93956676 93956676 + Missense_Mutation SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr6:93956676G>A ENST00000369303.4 - 15 2744 c.2560C>T c.(2560-2562)Cgt>Tgt p.R854C NM_004440.3 NP_004431.1 Q15375 EPHA7_HUMAN EPH receptor A7 854 Protein kinase. integral to plasma membrane ATP binding|ephrin receptor activity p.R854C(1) NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1) 112 all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142) BRCA - Breast invasive adenocarcinoma(108;0.0847) GCTGGTAAACGATAACCTTCT 0.393000 16 29 0 0 0.003163 0 0 GON4L 54856 broad.mit.edu 37 1 155742989 155742989 + Missense_Mutation SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr1:155742989G>A ENST00000437809.1 - 18 2485 c.2363C>T c.(2362-2364)cCc>cTc p.P788L GON4L_ENST00000368331.1_Missense_Mutation_p.P788L|GON4L_ENST00000361040.5_Missense_Mutation_p.P788L|GON4L_ENST00000471341.1_5'UTR|GON4L_ENST00000271883.5_Missense_Mutation_p.P788L Q3T8J9 GON4L_HUMAN gon-4-like (C. elegans) 788 regulation of transcription, DNA-dependent cytoplasm|nucleus DNA binding NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1) 45 Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195) TGGCAAACAGGGAAATTCATT 0.408000 17 30 0 0 0.006122 0 0 EP300 2033 broad.mit.edu 37 22 41572331 41572331 + Silent SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr22:41572331C>T ENST00000263253.7 + 30 6079 c.4860C>T c.(4858-4860)ccC>ccT p.P1620P RP1-85F18.5_ENST00000420537.1_RNA|RP1-85F18.6_ENST00000415054.1_RNA NM_001429.3 NP_001420.2 Q09472 EP300_HUMAN E1A binding protein p300 1620 Binding region for E1A adenovirus. apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia centrosome|histone acetyltransferase complex androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16) 171 CTCTCATCCCCTGCGATCTGA 0.552000 """T, N, F, Mis, O""" """MLL, RUNXBP2""" """colorectal, breast, pancreatic, AML, ALL, DLBCL""" Rubinstein-Taybi syndrome 40 74 0 0 0.007835 0 0 TECTA 7007 broad.mit.edu 37 11 121059869 121059869 + Silent SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr11:121059869G>A ENST00000392793.1 + 22 6514 c.6243G>A c.(6241-6243)agG>agA p.R2081R TECTA_ENST00000264037.2_Silent_p.R2081R O75443 TECTA_HUMAN tectorin alpha 2081 cell-matrix adhesion|sensory perception of sound anchored to membrane|plasma membrane|proteinaceous extracellular matrix TECTA/TBCEL(2) NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 135 all_hematologic(175;0.208) Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166) GACCTATTAGGAGAAAAAGTA 0.428000 12 18 0 0 0.010729 0 0 CES3 23491 broad.mit.edu 37 16 67006373 67006373 + Missense_Mutation SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr16:67006373G>A ENST00000303334.4 + 11 1477 c.1406G>A c.(1405-1407)gGa>gAa p.G469E CES3_ENST00000543856.1_Missense_Mutation_p.G108E|CES3_ENST00000394037.1_Missense_Mutation_p.G469E NM_024922.5 NP_079198.2 Q6UWW8 EST3_HUMAN carboxylesterase 3 469 endoplasmic reticulum lumen carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|skin(1) 24 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0488)|Epithelial(162;0.127) TTTGTGTTCGGAGGTCCCTTC 0.572000 50 74 0 0 0.014410 0 0 AHNAK2 113146 broad.mit.edu 37 14 105418242 105418242 + Silent SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr14:105418242G>A ENST00000333244.5 - 7 3665 c.3546C>T c.(3544-3546)atC>atT p.I1182I AHNAK2_ENST00000557457.1_Intron NM_138420.2 NP_612429.2 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 1182 nucleus cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3) 33 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) CCGAGGCCTCGATGGACTTGC 0.597000 46 139 0 0 0.014410 0 0 GPR32 2854 broad.mit.edu 37 19 51274067 51274067 + Silent SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr19:51274067C>T ENST00000270590.4 + 1 347 c.210C>T c.(208-210)ttC>ttT p.F70F NM_001506.1 NP_001497.1 O75388 GPR32_HUMAN G protein-coupled receptor 32 70 integral to plasma membrane N-formyl peptide receptor activity breast(4)|endometrium(4)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 29 all_neural(266;0.131) OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028) TGACTGTCTTCCGTATGGCAC 0.572000 29 32 0 0 0.003755 0 0 ACVR1B 91 broad.mit.edu 37 12 52370179 52370179 + Missense_Mutation SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr12:52370179C>T ENST00000257963.4 + 3 477 c.400C>T c.(400-402)Ccg>Tcg p.P134S ACVR1B_ENST00000541224.1_Missense_Mutation_p.P134S|ACVR1B_ENST00000542485.1_Missense_Mutation_p.P82S|ACVR1B_ENST00000426655.2_Missense_Mutation_p.P134S|ACVR1B_ENST00000415850.2_Missense_Mutation_p.P134S NM_004302.4|NM_020328.3 NP_004293.1|NP_064733.3 P36896 ACV1B_HUMAN activin A receptor, type IB 134 G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|peptidyl-threonine phosphorylation|positive regulation of activin receptor signaling pathway|positive regulation of erythrocyte differentiation|protein autophosphorylation|transmembrane receptor protein serine/threonine kinase signaling pathway cell surface activin receptor activity, type I|ATP binding|metal ion binding|SMAD binding|transforming growth factor beta receptor activity|ubiquitin protein ligase binding breast(5)|endometrium(4)|kidney(5)|large_intestine(12)|lung(10)|ovary(1)|pancreas(6)|prostate(1) 44 BRCA - Breast invasive adenocarcinoma(357;0.104) Adenosine triphosphate(DB00171) CATCGCCGGCCCGGTGTTCCT 0.537000 31 51 0 0 0.009535 0 0 SNHG12 85028 broad.mit.edu 37 1 28907033 28907033 + RNA SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr1:28907033C>T ENST00000488745.1 - 0 1100 SNHG12_ENST00000483436.1_RNA|SNHG12_ENST00000531126.1_RNA|SNHG12_ENST00000475441.1_RNA TGTTCTGTCCCACCAGGCAGC 0.522000 18 40 0 0 0.008871 0 0 CNGB3 54714 broad.mit.edu 37 8 87738790 87738790 + Missense_Mutation SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr8:87738790C>T ENST00000320005.5 - 3 354 c.307G>A c.(307-309)Gaa>Aaa p.E103K CNGB3_ENST00000519777.1_5'UTR|RP11-386D6.1_ENST00000519041.1_RNA NM_019098.4 NP_061971.3 Q9NQW8 CNGB3_HUMAN cyclic nucleotide gated channel beta 3 103 signal transduction|visual perception integral to membrane cGMP binding NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 80 GGGTCCATTTCCTTCTGCTCT 0.438000 109 140 0 0 0.014410 0 0 PSG9 5678 broad.mit.edu 37 19 43772076 43772076 + Missense_Mutation SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr19:43772076C>T ENST00000244293.7 - 2 356 c.290G>A c.(289-291)gGa>gAa p.G97E PSG9_ENST00000593948.1_Missense_Mutation_p.G97E|PSG9_ENST00000291752.5_Missense_Mutation_p.G97E|PSG9_ENST00000443718.3_Missense_Mutation_p.G97E|PSG9_ENST00000418820.2_Missense_Mutation_p.G97E|PSG9_ENST00000270077.3_Missense_Mutation_p.G97E|PSG9_ENST00000596730.1_Missense_Mutation_p.G97E Q00887 PSG9_HUMAN pregnancy specific beta-1-glycoprotein 9 97 Ig-like V-type. female pregnancy extracellular region central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 41 Prostate(69;0.00682) TGTTTCTCTTCCACTGTATGC 0.428000 80 130 0 0 0.014410 0 0 WDR96 80217 broad.mit.edu 37 10 105903397 105903397 + Splice_Site SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr10:105903397C>T ENST00000357060.3 - 32 4060 c.3944_splice c.e32-1 p.R1315_splice WDR96_ENST00000428666.1_Splice_Site_p.R1287_splice NM_025145.5 NP_079421.5 Q8NDM7 WDR96_HUMAN WD repeat domain 96 1315 p.R1315R(1) NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 72 GTTTGGAAATCCTGGTATTAC 0.418000 17 18 0 0 0.004007 0 0 FAH 2184 broad.mit.edu 37 15 80473403 80473403 + Missense_Mutation SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr15:80473403C>T ENST00000539156.1 + 12 3110 c.872C>T c.(871-873)tCc>tTc p.S291F FAH_ENST00000261755.5_Missense_Mutation_p.S361F|FAH_ENST00000407106.1_Missense_Mutation_p.S361F|FAH_ENST00000561421.1_Missense_Mutation_p.S361F P16930 FAAA_HUMAN fumarylacetoacetate hydrolase (fumarylacetoacetase) 361 L-phenylalanine catabolic process|tyrosine catabolic process cytosol fumarylacetoacetase activity|metal ion binding endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 AACTTCGGCTCCATGTTGGAA 0.502000 Tyrosinemia, type 1 26 24 0 0 0.007291 0 0 AADACL4 343066 broad.mit.edu 37 1 12711318 12711318 + Silent SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr1:12711318C>T ENST00000376221.1 + 2 345 c.345C>T c.(343-345)atC>atT p.I115I NM_001013630.1 NP_001013652.1 Q5VUY2 ADCL4_HUMAN arylacetamide deacetylase-like 4 115 integral to membrane carboxylesterase activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(6)|prostate(1) 17 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384) GGCGAGGCATCATCTTCTACC 0.577000 27 5 0 0 0.006320 0 0 ZNF99 7652 broad.mit.edu 37 19 22941701 22941701 + Missense_Mutation SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr19:22941701C>T ENST00000397104.3 - 5 736 c.737G>A c.(736-738)gGa>gAa p.G246E ZNF99_ENST00000596209.1_Missense_Mutation_p.G337E zinc finger protein 99 NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3) 124 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102) GGGTTTCTTTCCAGTATGAAT 0.373000 14 16 0 0 0.003163 0 0 PCNX 22990 broad.mit.edu 37 14 71444066 71444066 + Missense_Mutation SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr14:71444066G>A ENST00000304743.2 + 6 1458 c.1012G>A c.(1012-1014)Gaa>Aaa p.E338K PCNX_ENST00000439984.3_Missense_Mutation_p.E338K|PCNX_ENST00000238570.5_Missense_Mutation_p.E338K NM_014982.2 NP_055797.2 Q96RV3 PCX1_HUMAN pecanex homolog (Drosophila) 338 integral to membrane NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1) 87 KIRC - Kidney renal clear cell carcinoma(12;0.206) all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417) TTTATCTGGGGAATTTCAGCT 0.423000 29 36 0 0 0.008361 0 0 MAGEA10 4109 broad.mit.edu 37 X 151303315 151303315 + Missense_Mutation SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chrX:151303315C>T ENST00000370323.4 - 4 1094 c.778G>A c.(778-780)Gag>Aag p.E260K RP11-1007I13.4_ENST00000509345.2_RNA|MAGEA10_ENST00000244096.3_Missense_Mutation_p.E260K NM_001251828.1|NM_021048.4 NP_001238757.1|NP_066386.2 P43363 MAGAA_HUMAN melanoma antigen family A, 10 260 MAGE. endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 Acute lymphoblastic leukemia(192;6.56e-05) ATGAGGTGCTCCATCCCATCA 0.532000 45 6 0 0 0.010771 0 0 NRBP1 29959 broad.mit.edu 37 2 27664672 27664672 + Missense_Mutation SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr2:27664672C>T ENST00000233557.3 + 19 2433 c.1601C>T c.(1600-1602)tCc>tTc p.S534F NRBP1_ENST00000379852.3_Missense_Mutation_p.S534F|NRBP1_ENST00000379863.3_Missense_Mutation_p.S542F Q9UHY1 NRBP_HUMAN nuclear receptor binding protein 1 534 ER to Golgi vesicle-mediated transport|gene expression|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor cell cortex|endomembrane system|lamellipodium|membrane|nucleoplasm ATP binding|protein homodimerization activity|protein kinase activity central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 19 Acute lymphoblastic leukemia(172;0.155) GTCACCGTCTCCTCTTAGAGC 0.577000 64 54 0 0 0.014410 0 0 ATRNL1 26033 broad.mit.edu 37 10 116975623 116975623 + Missense_Mutation SNP T T G TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr10:116975623T>G ENST00000355044.3 + 9 1643 c.1517T>G c.(1516-1518)gTt>gGt p.V506G NM_207303.2 NP_997186.1 Q5VV63 ATRN1_HUMAN attractin-like 1 506 integral to membrane sugar binding NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234) Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827) AAATATGAAGTTAACACTAAG 0.303000 13 15 0 0 0.002450 0 0 TTLL2 83887 broad.mit.edu 37 6 167754748 167754748 + Missense_Mutation SNP C C T rs148357898 TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr6:167754748C>T ENST00000239587.5 + 3 1448 c.1360C>T c.(1360-1362)Cct>Tct p.P454S NM_031949.4 NP_114155.4 Q9BWV7 TTLL2_HUMAN tubulin tyrosine ligase-like family, member 2 454 protein modification process ATP binding|tubulin-tyrosine ligase activity central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 Breast(66;7.8e-06)|Ovarian(120;0.024) OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492) TGACTGTCTTCCTTATGATTC 0.493000 26 38 0 0 0.004656 0 0 TFB1M 51106 broad.mit.edu 37 6 155618167 155618167 + Missense_Mutation SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr6:155618167C>T ENST00000367166.4 - 4 521 c.466G>A c.(466-468)Gaa>Aaa p.E156K NM_016020.3 NP_057104.2 Q8WVM0 TFB1M_HUMAN transcription factor B1, mitochondrial 156 regulation of transcription, DNA-dependent|transcription, DNA-dependent mitochondrial nucleoid DNA binding|protein binding|rRNA (adenine-N6,N6-)-dimethyltransferase activity lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 Ovarian(120;0.196) OV - Ovarian serous cystadenocarcinoma(155;1.48e-12)|BRCA - Breast invasive adenocarcinoma(81;0.0131) GAAATATTTTCAAGCCACTTG 0.368000 21 22 0 0 0.003330 0 0 CACNB4 785 broad.mit.edu 37 2 152729006 152729006 + Splice_Site SNP T T A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr2:152729006T>A ENST00000360283.6 - 5 678 c.419_splice c.e5-1 p.K141_splice CACNB4_ENST00000539935.1_Splice_Site_p.K175_splice|CACNB4_ENST00000397327.2_Splice_Site_p.K128_splice|CACNB4_ENST00000427385.1_Splice_Site_p.K157_splice|CACNB4_ENST00000534999.1_Splice_Site_p.K141_splice|CACNB4_ENST00000201943.5_Splice_Site_p.K175_splice O00305 CACB4_HUMAN calcium channel, voltage-dependent, beta 4 subunit 175 SH3. axon guidance|membrane depolarization|synaptic transmission cytosol|internal side of plasma membrane|plasma membrane|synapse|voltage-gated calcium channel complex protein binding|voltage-gated calcium channel activity endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2) 11 BRCA - Breast invasive adenocarcinoma(221;0.156) Verapamil(DB00661) CCACTTGATTTCCTAGGATAT 0.383000 23 40 0 0 0.003330 0 0 BTBD3 22903 broad.mit.edu 37 20 11903874 11903874 + Missense_Mutation SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr20:11903874C>T ENST00000405977.1 + 5 1754 c.1129C>T c.(1129-1131)Cgt>Tgt p.R377C BTBD3_ENST00000254977.3_Missense_Mutation_p.R316C|BTBD3_ENST00000378226.2_Missense_Mutation_p.R377C|BTBD3_ENST00000399006.2_Missense_Mutation_p.R316C Q9Y2F9 BTBD3_HUMAN BTB (POZ) domain containing 3 377 breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(18)|ovary(3)|skin(2) 34 GCGCTGTCACCGTTTCCAGTC 0.512000 20 33 0 0 0.007413 0 0 OR52B4 143496 broad.mit.edu 37 11 4389277 4389277 + Silent SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr11:4389277G>A ENST00000408920.2 - 1 339 c.249C>T c.(247-249)gcC>gcT p.A83A NM_001005161.3 NP_001005161.2 Q8NGK2 O52B4_HUMAN olfactory receptor, family 52, subfamily B, member 4 83 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(15)|skin(2) 31 Medulloblastoma(188;0.0075)|Breast(177;0.0249)|all_neural(188;0.0577) Epithelial(150;1.57e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0826)|LUSC - Lung squamous cell carcinoma(625;0.19) AGATAGCTAAGGCCTGAGGAA 0.527000 13 19 0 0 0.001855 0 0 ALPI 248 broad.mit.edu 37 2 233323452 233323452 + Missense_Mutation SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr2:233323452G>A ENST00000295463.3 + 10 1371 c.1294G>A c.(1294-1296)Gag>Aag p.E432K NM_001631.3 NP_001622.2 P09923 PPBI_HUMAN alkaline phosphatase, intestinal 432 phosphorylation anchored to membrane|integral to membrane|plasma membrane alkaline phosphatase activity|metal ion binding|protein binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(2)|upper_aerodigestive_tract(1) 24 all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132) Epithelial(121;1.64e-16)|Kidney(3;9.71e-08)|KIRC - Kidney renal clear cell carcinoma(3;2.74e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000763)|Lung(119;0.00564)|LUSC - Lung squamous cell carcinoma(224;0.00746) GAATGAGAGCGAGAGCGGTGA 0.652000 26 29 0 0 0.005443 0 0 NBEA 26960 broad.mit.edu 37 13 36006489 36006489 + Missense_Mutation SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr13:36006489C>T ENST00000540320.1 + 39 6797 c.6263C>T c.(6262-6264)tCc>tTc p.S2088F NBEA_ENST00000379939.2_Missense_Mutation_p.S2085F|NBEA_ENST00000310336.4_Missense_Mutation_p.S2088F|NBEA_ENST00000400445.3_Missense_Mutation_p.S2088F Q8NFP9 NBEA_HUMAN neurobeachin 2088 cytosol|endomembrane system|plasma membrane|trans-Golgi network protein binding NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 108 Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207) all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199) GCATTTGGCTCCACTCATGCT 0.428000 7 11 0 0 0.003080 0 0 ARHGAP25 9938 broad.mit.edu 37 2 69015058 69015058 + Missense_Mutation SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr2:69015058C>T ENST00000295381.3 + 4 855 c.436C>T c.(436-438)Ctc>Ttc p.L146F ARHGAP25_ENST00000409030.3_Missense_Mutation_p.L139F|ARHGAP25_ENST00000456116.2_Intron|ARHGAP25_ENST00000544262.1_Missense_Mutation_p.L120F|ARHGAP25_ENST00000497079.1_Missense_Mutation_p.L139F|ARHGAP25_ENST00000409220.1_Missense_Mutation_p.L139F|ARHGAP25_ENST00000467265.1_Intron|ARHGAP25_ENST00000409202.3_Missense_Mutation_p.L146F NM_001007231.2 NP_001007232.2 P42331 RHG25_HUMAN Rho GTPase activating protein 25 146 PH. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1) 52 GGTTAAATTCCTCAGGAGAGT 0.547000 30 38 0 0 0.006320 0 0 NKX2-2 4821 broad.mit.edu 37 20 21492579 21492579 + Silent SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr20:21492579G>A ENST00000377142.4 - 2 1160 c.804C>T c.(802-804)gcC>gcT p.A268A NKX2-2-AS1_ENST00000549659.1_RNA NM_002509.3 NP_002500.1 O95096 NKX22_HUMAN NK2 homeobox 2 268 brain development|positive regulation of sequence-specific DNA binding transcription factor activity nucleus chromatin binding|core promoter proximal region DNA binding|transcription coactivator activity endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 21 TCCACTGCTGGGCCTGGACCA 0.711000 39 60 0 0 0.014410 0 0 SLC9C2 284525 broad.mit.edu 37 1 173494046 173494046 + Missense_Mutation SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr1:173494046G>A ENST00000367714.3 - 20 2808 c.2386C>T c.(2386-2388)Cgt>Tgt p.R796C SLC9C2_ENST00000466087.1_5'UTR|SLC9C2_ENST00000536496.1_3'UTR NM_178527.3 NP_848622.2 Q5TAH2 S9A11_HUMAN solute carrier family 9, member C2 (putative) 796 sodium ion transport integral to membrane ion channel activity|solute:hydrogen antiporter activity ACAACATCACGACCCTCATGC 0.348000 28 35 0 0 0.006320 0 0 ZSCAN25 221785 broad.mit.edu 37 7 99217233 99217233 + Missense_Mutation SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr7:99217233C>T ENST00000394152.2 + 4 331 c.4C>T c.(4-6)Ctt>Ttt p.L2F ZSCAN25_ENST00000334715.3_Missense_Mutation_p.L2F|ZSCAN25_ENST00000262941.6_Missense_Mutation_p.L2F NM_145115.2 NP_660090.2 zinc finger and SCAN domain containing 25 TCTGAAGATGCTTAAAGAGCA 0.512000 48 79 0 0 0.013114 0 0 GPR158 57512 broad.mit.edu 37 10 25887846 25887846 + Silent SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr10:25887846G>A ENST00000376351.3 + 11 3650 c.3291G>A c.(3289-3291)gaG>gaA p.E1097E GPR158_ENST00000490549.1_3'UTR NM_020752.2 NP_065803.2 Q5T848 GP158_HUMAN G protein-coupled receptor 158 1097 integral to membrane|plasma membrane G-protein coupled receptor activity breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 119 TTCTCCCAGAGAGGGCAAAAG 0.512000 45 55 0 0 0.011902 0 0 FPR1 2357 broad.mit.edu 37 19 52249604 52249604 + Missense_Mutation SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr19:52249604G>A ENST00000595042.1 - 3 785 c.644C>T c.(643-645)tCc>tTc p.S215F FPR1_ENST00000304748.4_Missense_Mutation_p.S215F NM_001193306.1 NP_001180235.1 P21462 FPR1_HUMAN formyl peptide receptor 1 215 activation of MAPK activity|cellular component movement|chemotaxis|G-protein signaling, coupled to cAMP nucleotide second messenger|nitric oxide mediated signal transduction endosome|integral to membrane|plasma membrane N-formyl peptide receptor activity endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(3) 20 all_neural(266;0.0189)|Medulloblastoma(540;0.146) GBM - Glioblastoma multiforme(134;0.00106)|OV - Ovarian serous cystadenocarcinoma(262;0.018) Nedocromil(DB00716) AGCAACGATGGACATGGGTGC 0.527000 28 47 0 0 0.013726 0 0 DOCK3 1795 broad.mit.edu 37 3 51264789 51264789 + Missense_Mutation SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr3:51264789C>T ENST00000266037.9 + 16 1476 c.1453C>T c.(1453-1455)Cct>Tct p.P485S NM_004947.4 NP_004938.1 Q8IZD9 DOCK3_HUMAN dedicator of cytokinesis 3 485 DHR-1. 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) CAGTAATAGTCCTCGCTGGGG 0.468000 52 61 0 0 0.014410 0 0 FANK1 92565 broad.mit.edu 37 10 127677178 127677178 + Missense_Mutation SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr10:127677178C>T ENST00000368695.1 + 3 354 c.232C>T c.(232-234)Cgc>Tgc p.R78C FANK1_ENST00000368689.1_Missense_Mutation_p.R78C|FANK1_ENST00000368693.1_Missense_Mutation_p.R84C|FANK1_ENST00000449042.2_Missense_Mutation_p.R78C NM_145235.3 NP_660278.3 Q8TC84 FANK1_HUMAN fibronectin type III and ankyrin repeat domains 1 84 Fibronectin type-III. cytoplasm|nucleus central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(10)|ovary(1)|urinary_tract(1) 21 all_lung(145;0.00752)|Lung NSC(174;0.0115)|Colorectal(57;0.0847)|all_neural(114;0.0936) GTACAGATTTCGCCTGAAGGT 0.522000 68 99 0 0 0.014410 0 0 RYR2 6262 broad.mit.edu 37 1 237947970 237947970 + Missense_Mutation SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr1:237947970G>A ENST00000366574.2 + 90 13275 c.12958G>A c.(12958-12960)Gaa>Aaa p.E4320K RYR2_ENST00000360064.6_Missense_Mutation_p.E4326K|RYR2_ENST00000542537.1_Missense_Mutation_p.E4304K NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 4320 cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) AAGCCTCGTCGAAGGTGCTAA 0.517000 27 36 0 0 0.009535 0 0 PREX2 80243 broad.mit.edu 37 8 69011978 69011978 + Missense_Mutation SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr8:69011978C>T ENST00000288368.4 + 23 2892 c.2615C>T c.(2614-2616)tCt>tTt p.S872F PREX2_ENST00000529398.1_3'UTR NM_024870.2|NM_025170.4 NP_079146.2|NP_079446.3 Q70Z35 PREX2_HUMAN phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 872 G-protein coupled receptor protein signaling pathway|intracellular signal transduction intracellular protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2) 178 AGCCTAAATTCTCTAAATGAA 0.393000 32 32 0 0 0.012213 0 0 GABRG2 2566 broad.mit.edu 37 5 161580138 161580138 + Nonsense_Mutation SNP C C T rs121909674 TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr5:161580138C>T ENST00000356592.3 + 10 1652 c.1192C>T c.(1192-1194)Caa>Taa p.Q398* GABRG2_ENST00000393933.4_Nonsense_Mutation_p.Q295*|GABRG2_ENST00000361925.4_Nonsense_Mutation_p.Q390*|GABRG2_ENST00000414552.2_Nonsense_Mutation_p.Q438* NM_000816.3|NM_198904.2 NP_000807.2|NP_944494.1 P18507 GBRG2_HUMAN gamma-aminobutyric acid (GABA) A receptor, gamma 2 390 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 62 Renal(175;0.000319) 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;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136) AGCAACCATTCAAATGAATAA 0.483000 40 9 0 0 0.006230 0 0 TRBV4-2 28616 broad.mit.edu 37 7 142045754 142045754 + RNA SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr7:142045754C>T ENST00000390392.3 + 0 393 CTCACTTATTCCTTCACCTAC 0.502000 63 80 0 0 0.014410 0 0 APBA1 320 broad.mit.edu 37 9 72046311 72046311 + Missense_Mutation SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr9:72046311G>A ENST00000265381.4 - 13 2668 c.2446C>T c.(2446-2448)Cat>Tat p.H816Y NM_001163.3 NP_001154.2 Q02410 APBA1_HUMAN amyloid beta (A4) precursor protein-binding, family A, member 1 816 PDZ 2. axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission synaptic vesicle endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3) 37 GTCTTCATATGAATCTGAGGG 0.622000 36 46 0 0 0.003755 0 0 ZFC3H1 196441 broad.mit.edu 37 12 72017247 72017247 + Missense_Mutation SNP G G C TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr12:72017247G>C ENST00000378743.3 - 24 4995 c.4637C>G c.(4636-4638)tCt>tGt p.S1546C NM_144982.4 NP_659419.3 O60293 ZC3H1_HUMAN zinc finger, C3H1-type containing 1546 RNA processing intracellular metal ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 ATTATCATTAGATGGATCATA 0.353000 14 28 0 0 0.003163 0 0 BPTF 2186 broad.mit.edu 37 17 65914854 65914854 + Silent SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr17:65914854C>T ENST00000321892.4 + 14 5767 c.5706C>T c.(5704-5706)tcC>tcT p.S1902S BPTF_ENST00000306378.6_Silent_p.S1776S|BPTF_ENST00000424123.3_Silent_p.S1763S|BPTF_ENST00000335221.5_Silent_p.S1902S Q12830 BPTF_HUMAN bromodomain PHD finger transcription factor 1902 brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|NURF complex sequence-specific DNA binding|transcription factor binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 78 all_cancers(12;6e-11) BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24) CAGTAAAGTCCTTAGCTGGAG 0.428000 55 88 0 0 0.014410 0 0 RNF217 154214 broad.mit.edu 37 6 125404058 125404058 + Missense_Mutation SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr6:125404058G>A ENST00000521654.2 + 6 1604 c.1604G>A c.(1603-1605)cGa>cAa p.R535Q RNF217_ENST00000275184.6_Missense_Mutation_p.R179Q|RNF217_ENST00000560949.1_Missense_Mutation_p.R300Q|RNF217_ENST00000368414.2_Missense_Mutation_p.R97Q|RNF217_ENST00000359704.2_3'UTR Q8TC41 RN217_HUMAN ring finger protein 217 110 protein ubiquitination involved in ubiquitin-dependent protein catabolic process integral to membrane ubiquitin-protein ligase activity|zinc ion binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(1) 11 LUSC - Lung squamous cell carcinoma(4;0.0263)|Lung(4;0.0828) GBM - Glioblastoma multiforme(226;0.0162) CAGAGAAAACGATCACGGACA 0.393000 13 12 0 0 0.002450 0 0 EPOR 2057 broad.mit.edu 37 19 11489371 11489371 + Missense_Mutation SNP A A G TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr19:11489371A>G ENST00000592375.2 - 7 1015 c.911T>C c.(910-912)tTc>tCc p.F304S EPOR_ENST00000222139.6_Missense_Mutation_p.F304S P19235 EPOR_HUMAN erythropoietin receptor 304 extracellular region|integral to plasma membrane erythropoietin receptor activity|identical protein binding endometrium(1)|lung(2)|ovary(1)|urinary_tract(1) 5 Darbepoetin alfa(DB00012)|Epoetin alfa(DB00016) ACCTACCTGGAAGTTACCCTT 0.562000 45 49 0 0 0.013114 0 0 POLR1A 25885 broad.mit.edu 37 2 86310264 86310264 + Missense_Mutation SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr2:86310264C>T ENST00000263857.6 - 7 1136 c.758G>A c.(757-759)cGa>cAa p.R253Q POLR1A_ENST00000409681.1_Missense_Mutation_p.R253Q O95602 RPA1_HUMAN polymerase (RNA) I polypeptide A, 194kDa 253 termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter DNA-directed RNA polymerase I complex|nucleoplasm DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 63 TAAGTATCCTCGTTTTCCTAT 0.443000 20 40 0 0 0.002780 0 0 HIST2H2BF 440689 broad.mit.edu 37 1 149783702 149783702 + Silent SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr1:149783702G>A ENST00000427880.2 - 1 223 c.177C>T c.(175-177)gcC>gcT p.A59A HIST2H2BF_ENST00000369167.1_Silent_p.A59A|HIST2H2BF_ENST00000469483.1_5'UTR|HIST2H2BF_ENST00000545683.1_Silent_p.A59A Q5QNW6 H2B2F_HUMAN histone cluster 2, H2bf 59 nucleosome assembly nucleosome|nucleus DNA binding breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 Breast(34;0.0124)|all_hematologic(923;0.127) TGATGCCCATGGCCTTGGACG 0.607000 72 102 0 0 0.014410 0 0 KMT2C 58508 broad.mit.edu 37 7 151851222 151851222 + Missense_Mutation SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr7:151851222G>A ENST00000355193.2 - 49 12538 c.12320C>T c.(12319-12321)tCa>tTa p.S4107L KMT2C_ENST00000262189.6_Missense_Mutation_p.S4050L|KMT2C_ENST00000485241.1_5'UTR lysine (K)-specific methyltransferase 2C p.S4050*(1)|p.S4107*(1) ATTCCTTCTTGATTCTGAACC 0.348000 14 18 0 0 0.002450 0 0 SIGLEC9 27180 broad.mit.edu 37 19 51631270 51631270 + Silent SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr19:51631270C>T ENST00000440804.3 + 5 1147 c.1080C>T c.(1078-1080)ttC>ttT p.F360F SIGLEC9_ENST00000250360.3_Silent_p.F360F NM_001198558.1 NP_001185487.1 Q9Y336 SIGL9_HUMAN sialic acid binding Ig-like lectin 9 360 cell adhesion|cell surface receptor linked signaling pathway integral to plasma membrane sugar binding NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(3)|lung(25)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 45 all_neural(266;0.0529) GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295) CCCTGGTCTTCCTGTCCTTCT 0.567000 87 80 0 0 0.014410 0 0 PCDHB6 56130 broad.mit.edu 37 5 140531414 140531414 + Missense_Mutation SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr5:140531414G>A ENST00000231136.1 + 1 1576 c.1576G>A c.(1576-1578)Gag>Aag p.E526K PCDHB6_ENST00000543635.1_Missense_Mutation_p.E390K NM_018939.2 NP_061762.1 Q9Y5E3 PCDB6_HUMAN 526 Cadherin 5. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 84 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GCAGTCTTTCGAGTTCCGCGT 0.672000 54 11 0 0 0.014410 0 0 TTN 7273 broad.mit.edu 37 2 179475012 179475012 + Missense_Mutation SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr2:179475012G>A ENST00000589042.1 - 271 51465 c.51241C>T c.(51241-51243)Cat>Tat p.H17081Y TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.H8141Y|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.H8208Y|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.H15440Y|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.H14513Y|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.H8016Y NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 15440 Ig-like 102. 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) AGGACATAATGAAGAATTGGG 0.428000 72 95 0 0 0.014410 0 0 PROS1 5627 broad.mit.edu 37 3 93605254 93605254 + Missense_Mutation SNP C C G TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr3:93605254C>G ENST00000394236.3 - 11 1565 c.1249G>C c.(1249-1251)Gaa>Caa p.E417Q PROS1_ENST00000407433.1_Missense_Mutation_p.E286Q NM_000313.3 NP_000304.2 P07225 PROS_HUMAN protein S (alpha) 417 Laminin G-like 1. leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis endoplasmic reticulum membrane|extracellular region|Golgi lumen|Golgi membrane|platelet alpha granule lumen calcium ion binding|endopeptidase inhibitor activity endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1) 46 Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170) AATCCATTTTCCGGCTTAAAA 0.373000 59 110 0 0 0.014410 0 0 ABCC8 6833 broad.mit.edu 37 11 17482077 17482077 + Silent SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr11:17482077G>A ENST00000302539.4 - 6 1094 c.969C>T c.(967-969)atC>atT p.I323I ABCC8_ENST00000389817.3_Silent_p.I323I NM_000352.3 NP_000343.2 Q09428 ABCC8_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 8 323 ABC transmembrane type-1 1. 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) GGTGGTCCACGATCCCAAAGA 0.602000 138 200 0 0 0.014410 0 0 CXCR1 3577 broad.mit.edu 37 2 219029360 219029360 + Missense_Mutation SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr2:219029360C>T ENST00000295683.2 - 2 695 c.575G>A c.(574-576)gGa>gAa p.G192E NM_000634.2 NP_000625.1 P25024 CXCR1_HUMAN chemokine (C-X-C motif) receptor 1 192 dendritic cell chemotaxis|inflammatory response integral to membrane|plasma membrane interleukin-8 receptor activity endometrium(1)|large_intestine(2)|lung(7)|prostate(3) 13 TGTGTCATTTCCCAGGACCTC 0.522000 25 35 0 0 0.004656 0 0 PTPRD 5789 broad.mit.edu 37 9 8317926 8317926 + Missense_Mutation SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr9:8317926G>A ENST00000381196.4 - 43 6230 c.5687C>T c.(5686-5688)tCc>tTc p.S1896F PTPRD_ENST00000397606.3_Missense_Mutation_p.S1489F|PTPRD_ENST00000397611.3_Missense_Mutation_p.S1486F|PTPRD_ENST00000397617.3_Missense_Mutation_p.S1489F|PTPRD_ENST00000540109.1_Missense_Mutation_p.S1896F|PTPRD_ENST00000537002.1_Missense_Mutation_p.S1486F|PTPRD_ENST00000358503.5_Missense_Mutation_p.S1874F|PTPRD_ENST00000486161.1_Missense_Mutation_p.S1489F|PTPRD_ENST00000356435.5_Missense_Mutation_p.S1896F|PTPRD_ENST00000355233.5_Missense_Mutation_p.S1490F|PTPRD_ENST00000360074.4_Missense_Mutation_p.S1883F NM_002839.3 NP_002830.1 P23468 PTPRD_HUMAN protein tyrosine phosphatase, receptor type, D 1896 Tyrosine-protein phosphatase 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) GGCACGATAGGAAAACTGATA 0.408000 TSP Lung(15;0.13) 62 12 0 0 0.014410 0 0 BSN 8927 broad.mit.edu 37 3 49691891 49691891 + Silent SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr3:49691891C>T ENST00000296452.4 + 5 5016 c.4902C>T c.(4900-4902)gcC>gcT p.A1634A NM_003458.3 NP_003449.2 Q9UPA5 BSN_HUMAN bassoon presynaptic cytomatrix protein 1634 synaptic transmission cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome metal ion binding breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 106 BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336) GCTGGGGTGCCCTCCCTGCTG 0.657000 11 16 0 0 0.010729 0 0 SYK 6850 broad.mit.edu 37 9 93606333 93606333 + Silent SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr9:93606333C>T ENST00000375754.4 + 2 301 c.153C>T c.(151-153)ttC>ttT p.F51F SYK_ENST00000375751.4_Silent_p.F51F|SYK_ENST00000375746.1_Silent_p.F51F|SYK_ENST00000375747.1_Silent_p.F51F|SYK_ENST00000476708.1_3'UTR NM_003177.5 NP_003168.2 P43405 KSYK_HUMAN spleen tyrosine kinase 51 SH2 1. cell proliferation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|neutrophil chemotaxis|organ morphogenesis|platelet activation|protein complex assembly cytosol|T cell receptor complex ATP binding|integrin binding|non-membrane spanning protein tyrosine kinase activity breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)|skin(2)|stomach(2) 26 TGGGTGGCTTCGCCCTGTCCG 0.637000 T """ETV6, ITK""" """MDS, peripheral T-cell lymphoma""" 13 10 0 0 0.001855 0 0 ATR 545 broad.mit.edu 37 3 142254971 142254971 + Silent SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr3:142254971G>A ENST00000350721.4 - 20 3919 c.3798C>T c.(3796-3798)gcC>gcT p.A1266A ATR_ENST00000383101.3_Silent_p.A1202A NM_001184.3 NP_001175.2 Q13535 ATR_HUMAN ataxia telangiectasia and Rad3 related 1266 cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence PML body ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4) 122 CCTGGAGAACGGCTTTTATCT 0.289000 Other conserved DNA damage response genes 22 44 0 0 0.012319 0 0 GALNTL6 442117 broad.mit.edu 37 4 173803993 173803993 + Missense_Mutation SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr4:173803993G>A ENST00000506823.1 + 8 1633 c.976G>A c.(976-978)Gaa>Aaa p.E326K GALNTL6_ENST00000508122.1_Missense_Mutation_p.E309K NM_001034845.2 NP_001030017.2 Q49A17 GLTL6_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 6 326 Catalytic subdomain B. Golgi membrane|integral to membrane metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(2)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(2) 45 ATGGTTTTGGGAATTGGGTGG 0.418000 49 69 0 0 0.014410 0 0 SLC6A19 340024 broad.mit.edu 37 5 1216695 1216695 + Missense_Mutation SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr5:1216695G>A ENST00000304460.10 + 7 966 c.910G>A c.(910-912)Gtg>Atg p.V304M NM_001003841.2 NP_001003841.1 Q695T7 S6A19_HUMAN solute carrier family 6 (neutral amino acid transporter), member 19 304 cellular nitrogen compound metabolic process integral to plasma membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 44 all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10) Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185) GAAGGACTCGGTGATTGTGTC 0.592000 19 9 0 0 0.012319 0 0 GPLD1 2822 broad.mit.edu 37 6 24460608 24460608 + Missense_Mutation SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr6:24460608C>T ENST00000230036.1 - 12 1017 c.907G>A c.(907-909)Gat>Aat p.D303N NM_001503.3 NP_001494.2 P80108 PHLD_HUMAN glycosylphosphatidylinositol specific phospholipase D1 303 extracellular region glycosylphosphatidylinositol phospholipase D activity breast(3)|endometrium(5)|kidney(1)|large_intestine(11)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1) 32 CTGTGAAAATCATTTTTCTGC 0.363000 77 11 0 0 0.014410 0 0 PIK3R6 146850 broad.mit.edu 37 17 8726794 8726794 + Silent SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr17:8726794G>A ENST00000311434.9 - 14 1775 c.1536C>T c.(1534-1536)tcC>tcT p.S512S PIK3R6_ENST00000434064.2_5'UTR NM_001010855.2 NP_001010855.1 Q5UE93 PI3R6_HUMAN phosphoinositide-3-kinase, regulatory subunit 6 512 platelet activation cytosol CCACAGTCCGGGATGTGTCCA 0.522000 7 4 0 0 0.003080 0 0 OSBP2 23762 broad.mit.edu 37 22 31137152 31137152 + Nonsense_Mutation SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr22:31137152C>T ENST00000332585.6 + 2 753 c.649C>T c.(649-651)Cag>Tag p.Q217* OSBP2_ENST00000403222.3_Nonsense_Mutation_p.Q52*|OSBP2_ENST00000382310.3_Nonsense_Mutation_p.Q217*|OSBP2_ENST00000446658.2_Nonsense_Mutation_p.Q217*|OSBP2_ENST00000407373.1_Nonsense_Mutation_p.Q44* NM_030758.3 NP_110385.1 Q969R2 OSBP2_HUMAN oxysterol binding protein 2 217 PH. lipid transport membrane lipid binding breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(6)|ovary(1)|skin(3)|urinary_tract(1) 19 CTACAGAAATCAGGGTGAAAT 0.532000 11 11 0 0 0.013537 0 0 STAB2 55576 broad.mit.edu 37 12 103984798 103984798 + Nonsense_Mutation SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr12:103984798C>T ENST00000388887.2 + 2 409 c.205C>T c.(205-207)Cga>Tga p.R69* NM_017564.9 NP_060034.9 Q8WWQ8 STAB2_HUMAN stabilin 2 69 angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis cytoplasm|external side of plasma membrane|integral to plasma membrane Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2) 174 TGTAGGGGTTCGAGATTGCAG 0.458000 33 41 0 0 0.004878 0 0 NPAS4 266743 broad.mit.edu 37 11 66192014 66192014 + Silent SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr11:66192014G>A ENST00000311034.2 + 7 1829 c.1653G>A c.(1651-1653)gaG>gaA p.E551E NM_178864.3 NP_849195.2 Q8IUM7 NPAS4_HUMAN neuronal PAS domain protein 4 551 transcription, DNA-dependent DNA binding|signal transducer activity breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3) 49 CCTTCCCAGAGCAACTGAGCC 0.582000 68 105 0 0 0.014410 0 0 CCDC73 493860 broad.mit.edu 37 11 32663598 32663598 + Missense_Mutation SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr11:32663598C>T ENST00000335185.5 - 13 1013 c.970G>A c.(970-972)Gag>Aag p.E324K CCDC73_ENST00000534415.1_5'UTR NM_001008391.2 NP_001008392.2 Q6ZRK6 CCD73_HUMAN coiled-coil domain containing 73 324 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) TTTACCTTCTCCCTTTGCAGC 0.289000 7 8 0 0 0.001984 0 0 NEDD9 4739 broad.mit.edu 37 6 11213690 11213690 + Missense_Mutation SNP G G T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr6:11213690G>T ENST00000379446.5 - 2 449 c.283C>A c.(283-285)Cca>Aca p.P95T RP3-510L9.1_ENST00000500636.2_RNA|NEDD9_ENST00000504387.1_Missense_Mutation_p.P95T|NEDD9_ENST00000379433.5_Missense_Mutation_p.P95T NM_001271033.1|NM_006403.3 NP_001257962.1|NP_006394.1 Q14511 CASL_HUMAN neural precursor cell expressed, developmentally down-regulated 9 95 actin filament bundle assembly|cell adhesion|cell division|integrin-mediated signaling pathway|mitosis|regulation of growth cell cortex|focal adhesion|Golgi apparatus|lamellipodium|nucleus protein binding endometrium(3)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 26 Breast(50;0.0768)|Ovarian(93;0.152) all_hematologic(90;0.135) Epithelial(50;0.0647)|all cancers(50;0.179) TGTGGGTTTGGCACTTGATAG 0.562000 68 103 1.2582e-26 1.35082e-26 0.014410 1 0 TMEM182 130827 broad.mit.edu 37 2 103378691 103378691 + Silent SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr2:103378691C>T ENST00000412401.2 + 1 220 c.15C>T c.(13-15)atC>atT p.I5I TMEM182_ENST00000409173.1_Intron|TMEM182_ENST00000409528.1_Intron NM_144632.3 NP_653233.3 Q6ZP80 TM182_HUMAN transmembrane protein 182 5 integral to membrane breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5) 11 GACTAAATATCGCTATCTTCT 0.358000 11 8 0 0 0.008291 0 0 SCN11A 11280 broad.mit.edu 37 3 38926777 38926777 + Splice_Site SNP A A T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr3:38926777A>T ENST00000302328.3 - 17 3263 c.e17+1 SCN11A_ENST00000450244.1_Splice_Site|SCN11A_ENST00000456224.3_Splice_Site|SCN11A_ENST00000444237.2_Splice_Site NM_014139.2 NP_054858.2 Q9UI33 SCNBA_HUMAN sodium channel, voltage-gated, type XI, alpha subunit response to drug voltage-gated sodium channel complex voltage-gated sodium channel activity NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3) 119 Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226) Cocaine(DB00907) ACTGCCACTTACCTTTGGGCA 0.413000 16 15 0 0 0.004990 0 0 TYW5 129450 broad.mit.edu 37 2 200800763 200800763 + Silent SNP T T C TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr2:200800763T>C ENST00000354611.4 - 7 847 c.582A>G c.(580-582)aaA>aaG p.K194K TYW5_ENST00000452512.2_5'UTR|C2orf69_ENST00000491721.1_Intron NM_001039693.2 NP_001034782.1 A2RUC4 TYW5_HUMAN tRNA-yW synthesizing protein 5 194 JmjC. wybutosine biosynthetic process iron ion binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein homodimerization activity|tRNA binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(1) 8 GTACTTCTGATTTAGTACCTA 0.284000 41 49 0 0 0.014410 0 0 ZNF582 147948 broad.mit.edu 37 19 56896237 56896237 + Silent SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr19:56896237C>T ENST00000301310.4 - 5 707 c.549G>A c.(547-549)aaG>aaA p.K183K ZNF582_ENST00000586929.1_Silent_p.K183K NM_144690.1 NP_653291.1 Q96NG8 ZN582_HUMAN zinc finger protein 582 183 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 Colorectal(82;0.000256)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0547) TAAGGAGTTCCTTTTGCCAGA 0.338000 24 29 0 0 0.014323 0 0 PHLDB2 90102 broad.mit.edu 37 3 111658470 111658470 + Missense_Mutation SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr3:111658470C>T ENST00000431670.2 + 7 2690 c.2279C>T c.(2278-2280)tCt>tTt p.S760F PHLDB2_ENST00000393923.3_Missense_Mutation_p.S744F|PHLDB2_ENST00000393925.3_Missense_Mutation_p.S760F|PHLDB2_ENST00000412622.1_Missense_Mutation_p.S717F|PHLDB2_ENST00000481953.1_Missense_Mutation_p.S717F|PHLDB2_ENST00000495180.1_Missense_Mutation_p.S346F NM_001134438.1 NP_001127910.1 Q86SQ0 PHLB2_HUMAN pleckstrin homology-like domain, family B, member 2 760 cytoplasm|intermediate filament cytoskeleton|plasma membrane breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1) 55 AACATCGTTTCTAGAAAGGTA 0.378000 10 20 0 0 0.008291 0 0 TRPC5 7224 broad.mit.edu 37 X 111195505 111195505 + Silent SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chrX:111195505C>T ENST00000262839.2 - 2 1062 c.144G>A c.(142-144)gtG>gtA p.V48V NM_012471.2 NP_036603.1 Q9UL62 TRPC5_HUMAN transient receptor potential cation channel, subfamily C, member 5 48 axon guidance calcium channel complex|integral to plasma membrane protein binding|store-operated calcium channel activity biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 62 GGGCCTGCTTCACAGTGGCAT 0.547000 33 7 0 0 0.003271 0 0 GPR37L1 9283 broad.mit.edu 37 1 202097473 202097473 + Missense_Mutation SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr1:202097473C>T ENST00000367282.4 + 2 1341 c.1235C>T c.(1234-1236)aCc>aTc p.T412I NM_004767.3 NP_004758.3 O60883 ETBR2_HUMAN G protein-coupled receptor 37 like 1 412 integral to membrane|plasma membrane G-protein coupled receptor activity|protein binding central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2) 18 GGCGCCATCACCCCAGTGCTG 0.652000 26 28 0 0 0.007291 0 0 MYH1 4619 broad.mit.edu 37 17 10408543 10408543 + Missense_Mutation SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr17:10408543C>T ENST00000226207.5 - 21 2466 c.2372G>A c.(2371-2373)cGa>cAa p.R791Q CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA NM_005963.3 NP_005954.3 P12882 MYH1_HUMAN myosin, heavy chain 1, skeletal muscle, adult 791 IQ. muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5) 176 GGCCTGGGTTCGGGTAATCAG 0.458000 21 32 0 0 0.012319 0 0 CCDC11 220136 broad.mit.edu 37 18 47769285 47769285 + Nonsense_Mutation SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr18:47769285G>A ENST00000398545.4 - 6 1315 c.1198C>T c.(1198-1200)Caa>Taa p.Q400* NM_145020.3 NP_659457.2 Q96M91 CCD11_HUMAN coiled-coil domain containing 11 400 endometrium(1)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|pancreas(1)|skin(1) 20 STAD - Stomach adenocarcinoma(97;2.66e-05)|Colorectal(21;7.57e-05)|Lung(128;0.00932)|READ - Rectum adenocarcinoma(32;0.164) TCTTGAACTTGAAGTTTTCTT 0.368000 59 69 0 0 0.014410 0 0 MECOM 2122 broad.mit.edu 37 3 168840402 168840402 + Missense_Mutation SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr3:168840402C>T ENST00000464456.1 - 5 1580 c.380G>A c.(379-381)aGt>aAt p.S127N MECOM_ENST00000460814.1_Missense_Mutation_p.S127N|MECOM_ENST00000494292.1_Missense_Mutation_p.S315N|MECOM_ENST00000468789.1_Missense_Mutation_p.S127N|MECOM_ENST00000433243.2_Missense_Mutation_p.S127N|MECOM_ENST00000472280.1_Missense_Mutation_p.S127N|MECOM_ENST00000392736.3_Missense_Mutation_p.S127N|MECOM_ENST00000264674.3_Missense_Mutation_p.S191N NM_001164000.1 NP_001157472.1 Q13465 MDS1_HUMAN MDS1 and EVI1 complex locus 0 sequence-specific DNA binding transcription factor activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4) 85 GTGCTTTCCACTGTCATGTGA 0.433000 22 36 0 0 0.012319 0 0 MCC 4163 broad.mit.edu 37 5 112399763 112399763 + Missense_Mutation SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr5:112399763C>T ENST00000302475.4 - 12 2124 c.1561G>A c.(1561-1563)Gac>Aac p.D521N MCC_ENST00000408903.3_Missense_Mutation_p.D711N|MCC_ENST00000514701.3_5'UTR|MCC_ENST00000515367.2_Missense_Mutation_p.D458N NM_002387.2 NP_002378.1 P23508 CRCM_HUMAN mutated in colorectal cancers 521 negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|Wnt receptor signaling pathway cytoplasm|nucleus|plasma membrane protein binding|receptor activity endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198) OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766) CAGCTGCCGTCCAGCTTCATG 0.607000 31 10 0 0 0.013726 0 0 OR51L1 119682 broad.mit.edu 37 11 5020353 5020353 + Silent SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr11:5020353C>T ENST00000321543.1 + 1 141 c.141C>T c.(139-141)atC>atT p.I47I NM_001004755.1 NP_001004755.1 Q8NGJ5 O51L1_HUMAN olfactory receptor, family 51, subfamily L, member 1 47 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(19)|skin(2)|stomach(1) 31 Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086) Epithelial(150;1.75e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19) ATGTTACCATCCTGTCTGTCA 0.433000 57 61 0 0 0.014410 0 0 NLRC5 84166 broad.mit.edu 37 16 57100492 57100492 + Missense_Mutation SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr16:57100492C>T ENST00000436936.1 + 34 4513 c.4288C>T c.(4288-4290)Cgc>Tgc p.R1430C NLRC5_ENST00000308149.7_Missense_Mutation_p.R1401C|NLRC5_ENST00000262510.6_Missense_Mutation_p.R1430C|NLRC5_ENST00000539144.1_Missense_Mutation_p.R1401C Q86WI3 NLRC5_HUMAN NLR family, CARD domain containing 5 1430 defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity cytosol|nucleus ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 75 all_neural(199;0.225) GGAATTTCCTCGCCAGGAAGA 0.637000 13 18 0 0 0.004007 0 0 OR9A4 130075 broad.mit.edu 37 7 141619141 141619141 + Nonsense_Mutation SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr7:141619141C>T ENST00000548136.1 + 1 525 c.466C>T c.(466-468)Caa>Taa p.Q156* MGAM_ENST00000497554.1_Intron NM_001001656.1 NP_001001656.1 Q8NGU2 OR9A4_HUMAN olfactory receptor, family 9, subfamily A, member 4 156 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(2)|large_intestine(9)|lung(7)|prostate(1)|skin(2) 22 Melanoma(164;0.0171) GTTTCTTTTTCAAATCTGGCC 0.413000 66 88 0 0 0.014410 0 0 DSG1 1828 broad.mit.edu 37 18 28913665 28913665 + Silent SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr18:28913665C>T ENST00000257192.4 + 7 1010 c.798C>T c.(796-798)atC>atT p.I266I NM_001942.2 NP_001933.2 Q02413 DSG1_HUMAN desmoglein 1 266 Cadherin 2. calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization cytosol|desmosome|integral to membrane|internal side of plasma membrane calcium ion binding|gamma-catenin binding|toxin binding NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1) 76 OV - Ovarian serous cystadenocarcinoma(10;0.00559) ATGATAATATCCCTTACATGG 0.393000 23 37 0 0 0.003330 0 0 MYO18A 399687 broad.mit.edu 37 17 27437624 27437624 + Silent SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr17:27437624G>A ENST00000527372.1 - 18 3097 c.2917C>T c.(2917-2919)Ctg>Ttg p.L973L MYO18A_ENST00000531253.1_Silent_p.L973L|MYO18A_ENST00000533112.1_Silent_p.L973L|MYO18A_ENST00000354329.4_Silent_p.L973L NM_078471.3 NP_510880.2 Q92614 MY18A_HUMAN myosin XVIIIA 973 Myosin head-like. anti-apoptosis|DNA metabolic process ER-Golgi intermediate compartment|myosin complex ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2) 36 Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031) CCCAGAAACAGGTTGCTGATG 0.652000 13 12 0 0 0.002450 0 0 C6orf165 154313 broad.mit.edu 37 6 88173777 88173777 + Missense_Mutation SNP G G A rs146287743 TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr6:88173777G>A ENST00000507897.1 + 13 1761 c.1678G>A c.(1678-1680)Gat>Aat p.D560N C6ORF165_ENST00000369562.4_Missense_Mutation_p.D560N|C6orf165_ENST00000506888.1_3'UTR Q8IYR0 CF165_HUMAN chromosome 6 open reading frame 165 560 NS(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575) BRCA - Breast invasive adenocarcinoma(108;0.0419) AGTACAAACTGATCTTAGTCA 0.413000 16 27 0 0 0.006122 0 0 ABCB1 5243 broad.mit.edu 37 7 87168615 87168615 + Missense_Mutation SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr7:87168615C>T ENST00000265724.3 - 20 2783 c.2366G>A c.(2365-2367)cGa>cAa p.R789Q ABCB1_ENST00000543898.1_Missense_Mutation_p.R725Q NM_000927.4 NP_000918.2 P08183 MDR1_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 1 789 ABC transmembrane type-1 2. G2/M transition of mitotic cell cycle|stem cell proliferation apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction ATP binding|protein binding|xenobiotic-transporting ATPase activity NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1) 111 Esophageal squamous(14;0.00164) Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570) AACCATGTATCGGAGCCGCTT 0.522000 45 39 0 0 0.014410 0 0 KITLG 4254 broad.mit.edu 37 12 88912537 88912537 + Silent SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr12:88912537G>A ENST00000347404.5 - 4 872 c.300C>T c.(298-300)atC>atT p.I100I KITLG_ENST00000378535.4_5'UTR|KITLG_ENST00000357116.4_Intron|KITLG_ENST00000228280.5_Silent_p.I100I NM_003994.5 NP_003985.2 P21583 SCF_HUMAN KIT ligand 100 cell adhesion|cell proliferation|hemopoiesis|male gonad development|positive regulation of DNA replication|signal transduction cytoplasm|cytoskeleton|integral to membrane|plasma membrane growth factor activity|identical protein binding|stem cell factor receptor binding kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|stomach(1) 9 GTTTGTCTATGATGGAATAAT 0.363000 Testicular Cancer, Familial Clustering of 24 34 0 0 0.004656 0 0 VCAN 1462 broad.mit.edu 37 5 82835116 82835116 + Nonsense_Mutation SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr5:82835116G>A ENST00000265077.3 + 8 6859 c.6294G>A c.(6292-6294)tgG>tgA p.W2098* VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000512590.2_Intron|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000342785.4_Intron|VCAN_ENST00000343200.5_Nonsense_Mutation_p.W1111*|VCAN_ENST00000502527.2_Intron NM_004385.4 NP_004376.2 P13611 CSPG2_HUMAN versican 2098 GAG-beta. cell adhesion|cell recognition|glial cell migration extracellular space|proteinaceous extracellular matrix calcium ion binding|hyaluronic acid binding|sugar binding NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 190 Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142) OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29) CCAAATTATGGTCTAGGCAAG 0.403000 28 6 0 0 0.008361 0 0 IL4R 3566 broad.mit.edu 37 16 27374340 27374340 + Missense_Mutation SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr16:27374340G>A ENST00000395762.2 + 11 1926 c.1667G>A c.(1666-1668)cGa>cAa p.R556Q IL4R_ENST00000543915.2_Missense_Mutation_p.R556Q|IL4R_ENST00000380922.3_Missense_Mutation_p.R541Q|IL4R_ENST00000170630.2_Missense_Mutation_p.R556Q NM_000418.3 NP_000409.1 P24394 IL4RA_HUMAN interleukin 4 receptor 556 Required for IRS1 activation and IL4- induced cell growth. immune response|production of molecular mediator involved in inflammatory response integral to plasma membrane identical protein binding|interleukin-4 receptor activity|receptor signaling protein activity breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1) 33 ATCCTCCGCCGAAATGTCCTC 0.637000 21 17 0 0 0.010504 0 0 LSAMP 4045 broad.mit.edu 37 3 115738374 115738374 + Missense_Mutation SNP G G T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr3:115738374G>T ENST00000490035.1 - 3 1001 c.502C>A c.(502-504)Ctt>Att p.L168I LSAMP_ENST00000539563.1_Missense_Mutation_p.L165I|LSAMP_ENST00000498645.1_5'UTR NM_002338.3 NP_002329.2 Q13449 LSAMP_HUMAN limbic system-associated membrane protein 168 Ig-like C2-type 2. cell adhesion|nervous system development anchored to membrane|plasma membrane NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(4)|lung(14)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 31 all_cancers(1;0.00189)|all_epithelial(1;0.0366)|Myeloproliferative disorder(1037;0.17)|all_neural(597;0.208)|Lung NSC(201;0.215) GBM - Glioblastoma multiforme(114;0.00117)|LUSC - Lung squamous cell carcinoma(41;0.0407)|Lung(219;0.152) GTTGGTGTAAGGTGTCTCCAG 0.463000 11 18 0.00829132 0.00868338 0.008291 1 0 OR10A2 341276 broad.mit.edu 37 11 6891566 6891566 + Missense_Mutation SNP T T G TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr11:6891566T>G ENST00000307322.4 + 1 643 c.581T>G c.(580-582)gTc>gGc p.V194G NM_001004460.1 NP_001004460.1 Q9H208 O10A2_HUMAN olfactory receptor, family 10, subfamily A, member 2 194 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(12)|urinary_tract(1) 24 Medulloblastoma(188;0.0523)|all_neural(188;0.236) Epithelial(150;4.89e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13) ATTCTGGTGGTCATGATCCCC 0.498000 72 70 0 0 0.014410 0 0 NOVA1 4857 broad.mit.edu 37 14 26917170 26917170 + Missense_Mutation SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr14:26917170C>T ENST00000539517.2 - 5 1836 c.1519G>A c.(1519-1521)Ggt>Agt p.G507S NOVA1_ENST00000465357.2_Missense_Mutation_p.G483S|NOVA1_ENST00000267422.7_Missense_Mutation_p.G385S NM_002515.2 NP_002506.2 P51513 NOVA1_HUMAN neuro-oncological ventral antigen 1 510 locomotory behavior|RNA splicing|synaptic transmission nucleus RNA binding breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 40 GBM - Glioblastoma multiforme(265;0.0135) GGCACTCAACCCACTTTCTGA 0.428000 13 32 0 0 0.001855 0 0 MAP3K14 9020 broad.mit.edu 37 17 43347910 43347910 + RNA SNP A A G TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr17:43347910A>G ENST00000344686.2 - 0 1947 Q99558 M3K14_HUMAN mitogen-activated protein kinase kinase kinase 14 cellular response to mechanical stimulus|I-kappaB kinase/NF-kappaB cascade|immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade|T cell costimulation cytosol ATP binding|MAP kinase kinase kinase activity|NF-kappaB-inducing kinase activity|protein binding breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 27 TCTCCCTCACAGGCGGAGGCT 0.622000 12 22 0 0 0.013537 0 0 BRE 9577 broad.mit.edu 37 2 28521344 28521344 + Missense_Mutation SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr2:28521344G>A ENST00000344773.2 + 11 1212 c.1074G>A c.(1072-1074)atG>atA p.M358I BRE_ENST00000379624.1_Missense_Mutation_p.M358I|BRE_ENST00000379632.2_Missense_Mutation_p.M358I|BRE_ENST00000342045.2_Missense_Mutation_p.M358I|BRE_ENST00000361704.2_Missense_Mutation_p.M358I NM_004899.4 NP_004890.2 Q9NXR7 BRE_HUMAN brain and reproductive organ-expressed (TNFRSF1A modulator) 358 UEV-like 2. apoptosis|chromatin modification|double-strand break repair|G2/M transition DNA damage checkpoint|positive regulation of anti-apoptosis|positive regulation of DNA repair|response to ionizing radiation|signal transduction BRCA1-A complex|BRISC complex|cytoplasm|nuclear ubiquitin ligase complex peroxisome targeting sequence binding|polyubiquitin binding|tumor necrosis factor receptor binding NS(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(2) 23 Acute lymphoblastic leukemia(172;0.155) GAAATGAAATGGCCAAAAGAG 0.433000 35 33 0 0 0.013726 0 0 SESN3 143686 broad.mit.edu 37 11 94924756 94924756 + Missense_Mutation SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr11:94924756C>T ENST00000536441.1 - 3 490 c.154G>A c.(154-156)Gca>Aca p.A52T SESN3_ENST00000416495.2_Missense_Mutation_p.A52T|SESN3_ENST00000537480.1_5'UTR|RP11-712B9.2_ENST00000534891.1_RNA|SESN3_ENST00000393234.1_Missense_Mutation_p.A52T|RP11-712B9.2_ENST00000534864.1_RNA|SESN3_ENST00000278499.2_5'UTR NM_001271594.1|NM_144665.2 NP_001258523.1|NP_653266.2 P58005 SESN3_HUMAN sestrin 3 52 cell cycle arrest nucleus endometrium(5)|large_intestine(6)|lung(3)|skin(1)|stomach(1) 16 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123) BRCA - Breast invasive adenocarcinoma(274;0.234) ACTGTGTTTGCTTGGACAACC 0.363000 23 17 0 0 0.002780 0 0 DNAH8 1769 broad.mit.edu 37 6 38793939 38793939 + Missense_Mutation SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr6:38793939G>A ENST00000359357.3 + 27 3458 c.3204G>A c.(3202-3204)atG>atA p.M1068I DNAH8_ENST00000449981.2_Missense_Mutation_p.M1285I|DNAH8_ENST00000441566.1_Missense_Mutation_p.M1068I dynein, axonemal, heavy chain 8 NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4) 260 CAGAGCCGATGAAATTGGCCT 0.358000 14 2 0 0 0.002450 0 0 NAPEPLD 222236 broad.mit.edu 37 7 102760641 102760641 + Missense_Mutation SNP C C A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr7:102760641C>A ENST00000417955.1 - 3 478 c.324G>T c.(322-324)aaG>aaT p.K108N NAPEPLD_ENST00000427257.1_Missense_Mutation_p.K108N|NAPEPLD_ENST00000455523.2_Missense_Mutation_p.K181N|NAPEPLD_ENST00000465647.1_Missense_Mutation_p.K108N|NAPEPLD_ENST00000341533.4_Missense_Mutation_p.K108N Q6IQ20 NAPEP_HUMAN N-acyl phosphatidylethanolamine phospholipase D 108 phospholipid catabolic process membrane metal ion binding endometrium(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 17 TAAAATATGGCTTAAGCACTG 0.403000 33 67 3.03874e-20 3.25074e-20 0.003271 1 0 SEC24B 10427 broad.mit.edu 37 4 110451530 110451530 + Silent SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr4:110451530C>T ENST00000265175.5 + 19 3217 c.3162C>T c.(3160-3162)ggC>ggT p.G1054G SEC24B_ENST00000399100.2_Silent_p.G1019G|SEC24B_ENST00000504968.2_Silent_p.G1084G NM_006323.2 NP_006314.2 O95487 SC24B_HUMAN SEC24 family member B 1054 COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm protein binding|transporter activity|zinc ion binding breast(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;3.03e-05) CTGCATATGGCTCAACTGTCT 0.453000 31 33 0 0 0.009535 0 0 COL19A1 1310 broad.mit.edu 37 6 70897937 70897937 + Silent SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr6:70897937C>T ENST00000322773.4 + 47 3117 c.3015C>T c.(3013-3015)atC>atT p.I1005I COL19A1_ENST00000393344.1_Silent_p.I627I NM_001858.4 NP_001849.2 Q14993 COJA1_HUMAN collagen, type XIX, alpha 1 1005 Triple-helical region 5 (COL5). cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development collagen extracellular matrix structural constituent|protein binding, bridging breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2) 109 CTCCAGGCATCCCTGGCATTC 0.542000 15 12 0 0 0.003163 0 0 NBEA 26960 broad.mit.edu 37 13 36046664 36046664 + Silent SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr13:36046664C>T ENST00000540320.1 + 41 7110 c.6576C>T c.(6574-6576)atC>atT p.I2192I NBEA_ENST00000379939.2_Silent_p.I2189I|NBEA_ENST00000310336.4_Silent_p.I2192I|NBEA_ENST00000400445.3_Silent_p.I2192I Q8NFP9 NBEA_HUMAN neurobeachin 2192 cytosol|endomembrane system|plasma membrane|trans-Golgi network protein binding NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 108 Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207) all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199) TCAAGAAGATCGACACGAAAG 0.478000 20 22 0 0 0.010504 0 0 ANK3 288 broad.mit.edu 37 10 61830575 61830575 + Missense_Mutation SNP G G T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr10:61830575G>T ENST00000280772.1 - 37 10255 c.10064C>A c.(10063-10065)tCc>tAc p.S3355Y ANK3_ENST00000373827.2_Intron|ANK3_ENST00000355288.2_Intron|ANK3_ENST00000503366.1_Intron NM_020987.3 NP_066267.2 Q12955 ANK3_HUMAN ankyrin 3, node of Ranvier (ankyrin G) 3355 establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 196 TTTCTGGTTGGAAGCCTTTTC 0.383000 42 55 2.24893e-16 2.3994e-16 0.009718 1 0 NCAPD3 23310 broad.mit.edu 37 11 134048799 134048799 + Silent SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr11:134048799G>A ENST00000534548.2 - 21 2656 c.2592C>T c.(2590-2592)gcC>gcT p.A864A RP11-700F16.3_ENST00000531710.1_RNA NM_015261.2 NP_056076.1 P42695 CNDD3_HUMAN non-SMC condensin II complex, subunit D3 864 cell division|mitotic chromosome condensation nuclear centromeric heterochromatin|nuclear condensin complex methylated histone residue binding NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_hematologic(175;0.127) all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559) Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227) GACACAGCTGGGCTATATCCC 0.428000 14 14 0 0 0.003163 0 0 MRGBP 55257 broad.mit.edu 37 20 61429957 61429957 + Missense_Mutation SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr20:61429957C>T ENST00000370487.3 + 3 360 c.289C>T c.(289-291)Cca>Tca p.P97S NM_018270.4 NP_060740.1 MRG/MORF4L binding protein TGAGATTCTTCCATTCCCGAA 0.458000 47 86 0 0 0.014410 0 0 NKAIN3 286183 broad.mit.edu 37 8 63659634 63659634 + Silent SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr8:63659634C>T ENST00000523211.1 + 4 549 c.417C>T c.(415-417)atC>atT p.I139I NKAIN3_ENST00000328472.5_Silent_p.I139I|NKAIN3_ENST00000519049.1_3'UTR NM_173688.2 NP_775959.1 Q8N8D7 NKAI3_HUMAN Na+/K+ transporting ATPase interacting 3 139 integral to membrane|plasma membrane kidney(3)|large_intestine(2)|lung(8) 13 Breast(64;0.127) Lung NSC(129;0.187) CAGGCTGCATCGTTGACTTCC 0.493000 26 17 0 0 0.004656 0 0 TRIM6 117854 broad.mit.edu 37 11 5625835 5625835 + Silent SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr11:5625835C>T ENST00000380097.3 + 3 821 c.579C>T c.(577-579)atC>atT p.I193I TRIM6_ENST00000507320.1_5'UTR|TRIM6_ENST00000278302.5_Silent_p.I165I|TRIM6_ENST00000506134.1_5'UTR|AC015691.13_ENST00000394793.2_RNA|TRIM6_ENST00000445329.1_5'UTR|TRIM6_ENST00000515022.1_Intron|HBG2_ENST00000380259.2_Intron|TRIM6_ENST00000380107.1_Silent_p.I139I|TRIM6-TRIM34_ENST00000354852.5_Silent_p.I193I NM_001003818.2|NM_001198644.1|NM_001198645.1 NP_001003818.1|NP_001185573.1|NP_001185574.1 tripartite motif containing 6 breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|prostate(2)|stomach(1) 22 Lung NSC(207;2.23e-07)|all_lung(207;1.81e-06)|Medulloblastoma(188;0.00225)|Breast(177;0.0101)|all_neural(188;0.0212) Epithelial(150;1.12e-45)|BRCA - Breast invasive adenocarcinoma(625;0.00101)|LUSC - Lung squamous cell carcinoma(625;0.192) CAGCTTTTATCAGAGAGAAGA 0.473000 36 49 0 0 0.003271 0 0 MAFB 9935 broad.mit.edu 37 20 39316829 39316829 + Missense_Mutation SNP A A T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr20:39316829A>T ENST00000373313.2 - 1 1051 c.662T>A c.(661-663)gTg>gAg p.V221E MAFB_ENST00000396967.1_Missense_Mutation_p.V221E NM_005461.3 NP_005452.2 Q9Y5Q3 MAFB_HUMAN v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog B 221 negative regulation of erythrocyte differentiation sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding kidney(1)|large_intestine(1) 2 Myeloproliferative disorder(115;0.00878) CAGCTCGCGCACGGACATGGA 0.721000 T IGH@ MM 4 11 0 0 0.009096 0 0 CDC42BPG 55561 broad.mit.edu 37 11 64599096 64599096 + Missense_Mutation SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr11:64599096C>T ENST00000342711.5 - 28 3184 c.3185G>A c.(3184-3186)gGt>gAt p.G1062D CDC42BPG_ENST00000491280.1_5'UTR NM_017525.2 NP_059995.2 Q6DT37 MRCKG_HUMAN CDC42 binding protein kinase gamma (DMPK-like) 1062 PH. actin cytoskeleton reorganization|intracellular signal transduction cell leading edge|centrosome ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity central_nervous_system(1)|lung(3) 4 CTGCAGCTCACCCAGCACCTG 0.687000 OREG0004016 type=REGULATORY REGION|Gene=CDC42BPG|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 24 14 0 0 0.005443 0 0 NACA 4666 broad.mit.edu 37 12 57111634 57111634 + Missense_Mutation SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr12:57111634G>A ENST00000454682.1 - 3 3961 c.3680C>T c.(3679-3681)tCc>tTc p.S1227F NACA_ENST00000546392.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000552540.1_Intron NM_001113203.2 NP_001106674.2 Q13765 NACA_HUMAN nascent polypeptide-associated complex alpha subunit 0 interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation nascent polypeptide-associated complex|nucleus DNA binding breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1) 10 TCCTTTTGGGGAGGGAGGAGT 0.662000 T BCL6 NHL 72 93 0 0 0.014410 0 0 RP11-1407O15.2 0 broad.mit.edu 37 17 36352450 36352450 + Missense_Mutation SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr17:36352450C>T ENST00000312412.4 - 11 1336 c.1337G>A c.(1336-1338)cGa>cAa p.R446Q TBC1D3_ENST00000537432.1_5'UTR|RP11-1407O15.2_ENST00000544906.1_Missense_Mutation_p.R291Q kidney(1)|lung(3) 4 ATGCAGCATTCGGATGACAGA 0.373000 4 30 0 0 0.000602 0 0 GAK 2580 broad.mit.edu 37 4 906537 906537 + Missense_Mutation SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr4:906537C>T ENST00000314167.4 - 3 363 c.253G>A c.(253-255)Gaa>Aaa p.E85K GAK_ENST00000511163.1_Intron NM_005255.2 NP_005246.2 O14976 GAK_HUMAN cyclin G associated kinase 85 Protein kinase. cell cycle focal adhesion|Golgi apparatus|perinuclear region of cytoplasm ATP binding|heat shock protein binding|protein serine/threonine kinase activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2) 39 Colorectal(103;0.219) AAGCAAACTTCTTGAATGATG 0.493000 19 21 0 0 0.007413 0 0 EHD3 30845 broad.mit.edu 37 2 31483665 31483665 + Silent SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr2:31483665C>T ENST00000322054.5 + 4 1077 c.792C>T c.(790-792)atC>atT p.I264I EHD3_ENST00000541626.1_Intron NM_014600.2 NP_055415.1 Q9NZN3 EHD3_HUMAN EH-domain containing 3 264 blood coagulation|endocytic recycling|protein homooligomerization nucleus|plasma membrane|recycling endosome membrane ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding|protein binding NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|skin(3) 33 Acute lymphoblastic leukemia(172;0.155) CCCTCCTCATCCCTGACAACC 0.597000 27 35 0 0 0.005443 0 0 TTBK2 146057 broad.mit.edu 37 15 43045282 43045282 + Missense_Mutation SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr15:43045282G>A ENST00000267890.6 - 14 2270 c.2162C>T c.(2161-2163)cCt>cTt p.P721L NM_173500.3 NP_775771.3 Q6IQ55 TTBK2_HUMAN tau tubulin kinase 2 721 cell death ATP binding|protein serine/threonine kinase activity NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2) 43 all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216) GBM - Glioblastoma multiforme(94;3.23e-07) TCCACTAGGAGGTTCACCCTC 0.468000 53 91 0 0 0.014410 0 0 TTBK1 84630 broad.mit.edu 37 6 43251561 43251561 + Missense_Mutation SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr6:43251561C>T ENST00000259750.4 + 14 3166 c.3083C>T c.(3082-3084)tCc>tTc p.S1028F NM_032538.1 NP_115927.1 Q5TCY1 TTBK1_HUMAN tau tubulin kinase 1 1028 cell junction|cytoplasm|nucleus ATP binding|protein binding|protein serine/threonine kinase activity breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 53 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399) GCCCCGGTGTCCCCGCTGGAG 0.677000 25 27 0 0 0.004656 0 0 ZDHHC13 54503 broad.mit.edu 37 11 19197388 19197388 + Silent SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr11:19197388C>T ENST00000446113.2 + 17 1871 c.1750C>T c.(1750-1752)Ctg>Ttg p.L584L ZDHHC13_ENST00000399351.3_Silent_p.L454L NM_019028.2 NP_061901.2 Q8IUH4 ZDH13_HUMAN zinc finger, DHHC-type containing 13 584 positive regulation of I-kappaB kinase/NF-kappaB cascade Golgi-associated vesicle membrane|integral to membrane magnesium ion transmembrane transporter activity|palmitoyltransferase activity|signal transducer activity|zinc ion binding NS(1)|kidney(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1) 6 CATGCAGAACCTGGCAGATTT 0.418000 32 46 0 0 0.010818 0 0 SEC16B 89866 broad.mit.edu 37 1 177915597 177915597 + Missense_Mutation SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr1:177915597G>A ENST00000308284.6 - 14 1822 c.1733C>T c.(1732-1734)aCc>aTc p.T578I SEC16B_ENST00000464631.1_Missense_Mutation_p.T579I|RP4-798P15.3_ENST00000528461.1_3'UTR|RP4-798P15.3_ENST00000354921.2_5'UTR NM_033127.2 NP_149118.2 Q96JE7 SC16B_HUMAN SEC16 homolog B (S. cerevisiae) 578 protein transport|vesicle-mediated transport endoplasmic reticulum membrane|Golgi membrane central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1) 35 TGTCTTCACGGTGTAGTGGCC 0.547000 OREG0014008 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 6 0 0 0.003080 0 0 CCDC132 55610 broad.mit.edu 37 7 92887687 92887687 + Missense_Mutation SNP T T G TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr7:92887687T>G ENST00000544910.1 + 9 689 c.469T>G c.(469-471)Tta>Gta p.L157V CCDC132_ENST00000535481.1_Intron|CCDC132_ENST00000251739.5_Missense_Mutation_p.L187V|CCDC132_ENST00000541136.1_5'UTR|CCDC132_ENST00000317751.6_5'UTR|CCDC132_ENST00000305866.5_Missense_Mutation_p.L187V NM_001257998.1 NP_001244927.1 Q96JG6 CC132_HUMAN coiled-coil domain containing 132 187 endometrium(1)|large_intestine(2)|lung(5) 8 all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837) STAD - Stomach adenocarcinoma(171;0.000302) AGATGTACGGTTAAGTGAAAT 0.303000 23 35 0 0 0.006320 0 0 COL4A2 1284 broad.mit.edu 37 13 111109710 111109710 + Missense_Mutation SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr13:111109710G>A ENST00000360467.5 + 21 1666 c.1360G>A c.(1360-1362)Gga>Aga p.G454R COL4A2-AS2_ENST00000458403.2_RNA NM_001846.2 NP_001837.2 P08572 CO4A2_HUMAN collagen, type IV, alpha 2 454 Triple-helical region. angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis collagen type IV extracellular matrix structural constituent|protein binding NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922) Breast(118;0.212) BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151) TGGGCTGAAAGGAGCAAAAGG 0.627000 7 14 0 0 0.001984 0 0 RRN3P2 653390 broad.mit.edu 37 16 29110458 29110458 + RNA SNP T T C rs151074589 by1000genomes TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr16:29110458T>C ENST00000564580.1 + 0 1131 p.W375R(25) GAATTTTGAGTGGATAGTGAT 0.328000 4 44 0 0 0.000602 0 0 ERLIN2 11160 broad.mit.edu 37 8 37603117 37603117 + Missense_Mutation SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr8:37603117C>T ENST00000335171.6 + 7 793 c.455C>T c.(454-456)tCa>tTa p.S152L ERLIN2_ENST00000518586.1_3'UTR|ERLIN2_ENST00000523887.1_3'UTR|ERLIN2_ENST00000397228.2_Missense_Mutation_p.S152L|ERLIN2_ENST00000276461.5_Intron|ERLIN2_ENST00000519638.1_Intron NM_001003790.3 NP_001003790.1 O94905 ERLN2_HUMAN ER lipid raft associated 2 0 ER-associated protein catabolic process endoplasmic reticulum membrane|integral to membrane|plasma membrane protein binding NS(1)|large_intestine(1)|lung(5) 7 Lung NSC(58;0.174) BRCA - Breast invasive adenocarcinoma(5;6.14e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10) caggaatcttcataaaaggga 0.373000 13 18 0 0 0.004007 0 0 LCE2B 26239 broad.mit.edu 37 1 152659456 152659456 + Missense_Mutation SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr1:152659456C>T ENST00000368780.3 + 2 191 c.137C>T c.(136-138)tCt>tTt p.S46F LCE2B_ENST00000417924.2_Missense_Mutation_p.S46F NM_014357.4 NP_055172.1 O14633 LCE2B_HUMAN late cornified envelope 2B 46 Cys-rich. keratinization endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 11 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) GCAGTCTCTTCTTGCTGTGGT 0.627000 70 101 0 0 0.014410 0 0 SCN1A 6323 broad.mit.edu 37 2 166929996 166929996 + Missense_Mutation SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr2:166929996C>T ENST00000423058.2 - 1 153 c.136G>A c.(136-138)Gaa>Aaa p.E46K AC010127.3_ENST00000599041.1_RNA|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.E46K|SCN1A_ENST00000303395.4_Missense_Mutation_p.E46K|SCN1A_ENST00000375405.3_Missense_Mutation_p.E46K NM_001165963.1|NM_001202435.1 NP_001159435.1|NP_001189364.1 P35498 SCN1A_HUMAN sodium channel, voltage-gated, type I, alpha subunit 46 voltage-gated sodium channel complex voltage-gated sodium channel activity NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1) 200 Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909) GGGCCATTTTCGTCGTCATCT 0.448000 69 98 0 0 0.014410 0 0 CCR4 1233 broad.mit.edu 37 3 32995250 32995250 + Missense_Mutation SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr3:32995250G>A ENST00000330953.5 + 2 504 c.336G>A c.(334-336)atG>atA p.M112I NM_005508.4 NP_005499.1 P51679 CCR4_HUMAN chemokine (C-C motif) receptor 4 112 chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response integral to plasma membrane NS(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)|stomach(1) 16 TGTGCAAGATGATTTCCTGGA 0.478000 95 144 0 0 0.014410 0 0 ADCY10 55811 broad.mit.edu 37 1 167792263 167792263 + Missense_Mutation SNP T T C TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr1:167792263T>C ENST00000367848.1 - 29 4372 c.3875A>G c.(3874-3876)gAc>gGc p.D1292G ADCY10_ENST00000485964.1_5'UTR|ADCY10_ENST00000367851.4_Missense_Mutation_p.D1384G|ADCY10_ENST00000545172.1_Missense_Mutation_p.D1231G Q96PN6 ADCYA_HUMAN adenylate cyclase 10 (soluble) 1384 intracellular signal transduction|spermatogenesis cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction adenylate cyclase activity|ATP binding|magnesium ion binding autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1) 63 AAGCAGGATGTCCAAGCAGAC 0.498000 27 26 0 0 0.006320 0 0 FOCAD 54914 broad.mit.edu 37 9 20874701 20874701 + Missense_Mutation SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr9:20874701C>T ENST00000380249.1 + 21 2576 c.2212C>T c.(2212-2214)Cct>Tct p.P738S FOCAD_ENST00000338382.6_Missense_Mutation_p.P738S|FOCAD_ENST00000604828.1_3'UTR|FOCAD_ENST00000605086.1_Missense_Mutation_p.P174S NM_017794.3 NP_060264.3 Q5VW36 K1797_HUMAN focadhesin 738 integral to membrane binding p.P738A(1) AATTCCCATTCCTGAAGAGTT 0.368000 45 11 0 0 0.010771 0 0 MUC16 94025 broad.mit.edu 37 19 9064001 9064001 + Silent SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr19:9064001G>A ENST00000397910.4 - 3 23648 c.23445C>T c.(23443-23445)ttC>ttT p.F7815F NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 7817 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 TAGTCTCAAGGAAGGCAGGAG 0.527000 50 58 0 0 0.014410 0 0 ILDR2 387597 broad.mit.edu 37 1 166927084 166927084 + Nonsense_Mutation SNP G G A rs141350747 TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr1:166927084G>A ENST00000271417.3 - 2 356 c.301C>T c.(301-303)Cga>Tga p.R101* ILDR2_ENST00000528703.1_Nonsense_Mutation_p.R101*|ILDR2_ENST00000529387.1_Nonsense_Mutation_p.R101*|ILDR2_ENST00000469934.2_Nonsense_Mutation_p.R101*|ILDR2_ENST00000529071.1_Nonsense_Mutation_p.R101*|ILDR2_ENST00000525740.1_Nonsense_Mutation_p.R101*|ILDR2_ENST00000526687.1_Nonsense_Mutation_p.R101* NM_199351.2 NP_955383.1 Q71H61 ILDR2_HUMAN immunoglobulin-like domain containing receptor 2 101 Ig-like V-type. integral to membrane NS(3)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 22 GCTACTACTCGAACAGTCCTC 0.498000 39 54 0 0 0.006230 0 0 MEIS2 4212 broad.mit.edu 37 15 37184640 37184640 + Missense_Mutation SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr15:37184640C>T ENST00000338564.5 - 13 1593 c.1147G>A c.(1147-1149)Gac>Aac p.D383N MEIS2_ENST00000397620.2_3'UTR|MEIS2_ENST00000382766.2_Missense_Mutation_p.D383N|MEIS2_ENST00000340545.5_3'UTR|MEIS2_ENST00000424352.2_3'UTR|MEIS2_ENST00000219869.9_3'UTR|MEIS2_ENST00000397624.3_3'UTR|MEIS2_ENST00000559085.1_3'UTR|MEIS2_ENST00000561208.1_Missense_Mutation_p.D390N|MEIS2_ENST00000444725.1_3'UTR|MEIS2_ENST00000557796.2_3'UTR NM_001220482.1 NP_001207411.1 O14770 MEIS2_HUMAN Meis homeobox 2 390 negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 36 all_epithelial(112;9.77e-14)|Lung NSC(122;1.42e-09)|all_lung(180;2.2e-08)|Ovarian(310;0.134)|Melanoma(134;0.155) all cancers(64;9.33e-21)|GBM - Glioblastoma multiforme(113;1.71e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0288) GAAACGTAGTCCCCTGGCATG 0.443000 85 128 0 0 0.014410 0 0 PARP15 165631 broad.mit.edu 37 3 122351038 122351038 + Missense_Mutation SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr3:122351038G>A ENST00000483793.1 + 7 999 c.959G>A c.(958-960)cGa>cAa p.R320Q PARP15_ENST00000464300.2_Missense_Mutation_p.R515Q|PARP15_ENST00000493645.1_Missense_Mutation_p.R212Q|PARP15_ENST00000310366.4_Missense_Mutation_p.R281Q|PARP15_ENST00000465304.1_3'UTR Q460N3 PAR15_HUMAN poly (ADP-ribose) polymerase family, member 15 493 Macro 2. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus NAD+ ADP-ribosyltransferase activity p.R515Q(1)|p.R281Q(1) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 24 GBM - Glioblastoma multiforme(114;0.0531) AAGTTCACCCGAACTTGTTCT 0.358000 21 26 0 0 0.002780 0 0 ENPP4 22875 broad.mit.edu 37 6 46107658 46107658 + Nonsense_Mutation SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr6:46107658G>A ENST00000321037.4 + 2 568 c.338G>A c.(337-339)tGg>tAg p.W113* NM_014936.4 NP_055751.1 Q9Y6X5 ENPP4_HUMAN ectonucleotide pyrophosphatase/phosphodiesterase 4 (putative) 113 integral to membrane hydrolase activity central_nervous_system(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 18 CCTTTTTGGTGGAATGAGGCA 0.443000 22 44 0 0 0.012319 0 0 NXPH1 30010 broad.mit.edu 37 7 8790861 8790861 + Missense_Mutation SNP A A G TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr7:8790861A>G ENST00000405863.1 + 3 1189 c.278A>G c.(277-279)aAc>aGc p.N93S NXPH1_ENST00000497400.1_3'UTR|NXPH1_ENST00000602349.1_5'UTR NM_152745.2 NP_689958.1 P58417 NXPH1_HUMAN neurexophilin 1 93 II. extracellular region breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(7)|ovary(1) 17 Ovarian(82;0.0628) UCEC - Uterine corpus endometrioid carcinoma (126;0.101) TGGCTGAGGAACTCCACAGAC 0.483000 35 42 0 0 0.013726 0 0 ROPN1L 83853 broad.mit.edu 37 5 10442315 10442315 + Silent SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr5:10442315G>A ENST00000503804.1 + 2 557 c.36G>A c.(34-36)caG>caA p.Q12Q ROPN1L_ENST00000510520.1_3'UTR|ROPN1L_ENST00000274134.4_Silent_p.Q12Q Q96C74 ROP1L_HUMAN rhophilin associated tail protein 1-like 12 ciliary or flagellar motility|signal transduction cytoplasm|motile cilium cAMP-dependent protein kinase regulator activity|protein binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1) 14 GCGCTCAGCAGATCCACATTC 0.662000 38 9 0 0 0.005524 0 0 TSPAN12 23554 broad.mit.edu 37 7 120450525 120450525 + Nonsense_Mutation SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr7:120450525G>A ENST00000222747.3 - 6 1067 c.460C>T c.(460-462)Cag>Tag p.Q154* TSPAN12_ENST00000415871.1_Nonsense_Mutation_p.Q154* NM_012338.3 NP_036470.1 O95859 TSN12_HUMAN tetraspanin 12 154 angiogenesis|cell surface receptor linked signaling pathway|regulation of angiogenesis|retina layer formation integral to plasma membrane|membrane fraction endometrium(3)|kidney(1)|lung(4)|ovary(1)|skin(1) 10 all_neural(327;0.117) ACCTCTCTCTGAAAAAAATTC 0.398000 25 23 0 0 0.007291 0 0 DUSP13 51207 broad.mit.edu 37 10 76855508 76855508 + Silent SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr10:76855508G>A ENST00000491677.2 - 7 1148 c.606C>T c.(604-606)acC>acT p.T202T DUSP13_ENST00000464872.1_Silent_p.T73T|DUSP13_ENST00000472493.2_Silent_p.T73T|DUSP13_ENST00000607131.1_Silent_p.T166T|DUSP13_ENST00000372702.3_3'UTR|DUSP13_ENST00000372700.3_Silent_p.T123T|DUSP13_ENST00000478873.2_Silent_p.T209T|DUSP13_ENST00000605915.1_Silent_p.T95T NM_001007271.1 NP_001007272.1 Q6B8I1 MDSP_HUMAN dual specificity phosphatase 13 65 cytoplasm protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1) 8 all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348) TCACAACGTGGGTGATTCCCA 0.577000 51 61 0 0 0.014410 0 0 COL27A1 85301 broad.mit.edu 37 9 117072929 117072929 + Missense_Mutation SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr9:117072929C>T ENST00000356083.3 + 61 5928 c.5537C>T c.(5536-5538)tCa>tTa p.S1846L NM_032888.2 NP_116277.2 Q8IZC6 CORA1_HUMAN collagen, type XXVII, alpha 1 1846 Fibrillar collagen NC1. cell adhesion extracellular matrix structural constituent central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3) 80 CCTGCCTCATCAGGGAAGCAG 0.602000 35 42 0 0 0.003755 0 0 ITIH6 347365 broad.mit.edu 37 X 54783453 54783453 + Silent SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chrX:54783453G>A ENST00000218436.6 - 8 3083 c.3054C>T c.(3052-3054)ttC>ttT p.F1018F NM_198510.2 NP_940912.1 Q6UXX5 ITH5L_HUMAN inter-alpha-trypsin inhibitor heavy chain family, member 6 1018 hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity AGGACTCCACGAACTTGGATT 0.522000 13 1 0 0 0.003163 0 0 TLR3 7098 broad.mit.edu 37 4 187004218 187004218 + Missense_Mutation SNP G G A rs144550375 TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr4:187004218G>A ENST00000296795.2 + 4 1482 c.1378G>A c.(1378-1380)Gaa>Aaa p.E460K TLR3_ENST00000504367.1_Missense_Mutation_p.E183K NM_003265.2 NP_003256.1 O15455 TLR3_HUMAN toll-like receptor 3 460 activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|defense response to bacterium|defense response to virus|detection of virus|hyperosmotic response|I-kappaB phosphorylation|inflammatory response|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of osteoclast differentiation|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|toll-like receptor 3 signaling pathway endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane double-stranded RNA binding|transmembrane receptor activity breast(1)|endometrium(5)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 29 all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243) OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16) AAATATTTTCGAAATCTATCT 0.473000 21 30 0 0 0.012319 0 0 DKK3 27122 broad.mit.edu 37 11 11987501 11987501 + Missense_Mutation SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr11:11987501G>A ENST00000396505.2 - 7 923 c.685C>T c.(685-687)Cct>Tct p.P229S DKK3_ENST00000525493.1_Missense_Mutation_p.P229S|DKK3_ENST00000527132.1_Intron|DKK3_ENST00000326932.4_Missense_Mutation_p.P229S|DKK3_ENST00000450094.2_Missense_Mutation_p.P201S NM_015881.5 NP_056965.3 Q9UBP4 DKK3_HUMAN dickkopf WNT signaling pathway inhibitor 3 229 DKK-type Cys-2. adrenal gland development|anatomical structure morphogenesis|negative regulation of aldosterone biosynthetic process|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cortisol biosynthetic process|negative regulation of transcription, DNA-dependent|Wnt receptor signaling pathway extracellular space breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(1)|pancreas(1) 8 Epithelial(150;0.000502) GTGCACACAGGGAACAGCAGG 0.627000 14 17 0 0 0.001855 0 0 EIF4G1 1981 broad.mit.edu 37 3 184040702 184040702 + Missense_Mutation SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr3:184040702C>T ENST00000342981.4 + 12 2303 c.1889C>T c.(1888-1890)cCa>cTa p.P630L EIF4G1_ENST00000350481.5_Missense_Mutation_p.P466L|EIF4G1_ENST00000411531.1_Missense_Mutation_p.P590L|EIF4G1_ENST00000319274.6_Missense_Mutation_p.P630L|EIF4G1_ENST00000392537.2_Missense_Mutation_p.P543L|EIF4G1_ENST00000424196.1_Missense_Mutation_p.P637L|EIF4G1_ENST00000441154.1_Missense_Mutation_p.P466L|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000352767.3_Missense_Mutation_p.P637L|EIF4G1_ENST00000346169.2_Missense_Mutation_p.P630L|EIF4G1_ENST00000414031.1_Missense_Mutation_p.P590L|EIF4G1_ENST00000435046.2_Missense_Mutation_p.P434L|EIF4G1_ENST00000427845.1_Missense_Mutation_p.P543L|EIF4G1_ENST00000382330.3_Missense_Mutation_p.P637L|EIF4G1_ENST00000434061.2_Missense_Mutation_p.P434L NM_182917.4 NP_886553.3 Q04637 IF4G1_HUMAN eukaryotic translation initiation factor 4 gamma, 1 630 MIF4G. insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation cytosol|eukaryotic translation initiation factor 4F complex protein binding|translation initiation factor activity central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 75 all_cancers(143;1.06e-10)|Ovarian(172;0.0339) Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) ATGCAGAAGCCAGAGGGATTG 0.502000 83 108 0 0 0.014410 0 0 MAOB 4129 broad.mit.edu 37 X 43637955 43637955 + Missense_Mutation SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chrX:43637955C>T ENST00000378069.4 - 11 1258 c.1111G>A c.(1111-1113)Gtt>Att p.V371I MAOB_ENST00000538942.1_Missense_Mutation_p.V355I|MAOB_ENST00000536181.1_Missense_Mutation_p.V355I NM_000898.4 NP_000889.3 P27338 AOFB_HUMAN monoamine oxidase B 371 xenobiotic metabolic process integral to membrane|mitochondrial outer membrane electron carrier activity|primary amine oxidase activity breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(2)|skin(5) 21 Amantadine(DB00915)|Bupropion(DB01156)|Carbidopa(DB00190)|Citalopram(DB00215)|Dopamine(DB00988)|Entacapone(DB00494)|Furazolidone(DB00614)|Ginkgo biloba(DB01381)|Ibuprofen(DB01050)|Imipramine(DB00458)|Iproniazid(DB04818)|Isocarboxazid(DB01247)|Levodopa(DB01235)|Maprotiline(DB00934)|Meclizine(DB00737)|Moclobemide(DB01171)|Nicotine(DB00184)|Pargyline(DB01626)|Phenelzine(DB00780)|Phentermine(DB00191)|Rasagiline(DB01367)|Selegiline(DB01037)|Tranylcypromine(DB00752) GAACCCAGAACCTTGGCATAG 0.448000 14 0 0 0 0.004990 0 0 GPR98 84059 broad.mit.edu 37 5 89953983 89953983 + Missense_Mutation SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr5:89953983C>T ENST00000405460.2 + 21 4736 c.4640C>T c.(4639-4641)tCt>tTt p.S1547F NM_032119.3 NP_115495.3 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 1547 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) AAACTAGTTTCTGTATATGGA 0.363000 31 5 0 0 0.008361 0 0 LILRP2 79166 broad.mit.edu 37 19 55220543 55220543 + RNA SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr19:55220543G>A ENST00000413439.1 + 0 681 GCCCACCAGAGCCCAGGAACA 0.572000 4 8 0 0 0.009096 0 0 SLITRK5 26050 broad.mit.edu 37 13 88328984 88328984 + Missense_Mutation SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr13:88328984G>A ENST00000325089.6 + 2 1560 c.1341G>A c.(1339-1341)atG>atA p.M447I SLITRK5_ENST00000400028.3_Missense_Mutation_p.M206I NM_015567.1 NP_056382.1 O94991 SLIK5_HUMAN SLIT and NTRK-like family, member 5 447 integral to membrane breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4) 81 all_neural(89;0.101)|Medulloblastoma(90;0.163) GCATCTCGATGATCCAGGACC 0.587000 20 26 0 0 0.014323 0 0 PLCB1 23236 broad.mit.edu 37 20 8678363 8678363 + Missense_Mutation SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr20:8678363G>A ENST00000378641.3 + 11 1575 c.1100G>A c.(1099-1101)gGa>gAa p.G367E PLCB1_ENST00000378637.2_Missense_Mutation_p.G367E|PLCB1_ENST00000338037.6_Missense_Mutation_p.G367E NM_182734.1 NP_877398.1 Q9NQ66 PLCB1_HUMAN phospholipase C, beta 1 (phosphoinositide-specific) 367 PI-PLC X-box. activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission cytosol|nuclear chromatin|nuclear speck calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4) 95 TGCTGGAAGGGACGGACTGCA 0.488000 55 47 0 0 0.014410 0 0 COL11A1 1301 broad.mit.edu 37 1 103491381 103491381 + Missense_Mutation SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr1:103491381G>A ENST00000358392.2 - 6 1225 c.908C>T c.(907-909)tCa>tTa p.S303L COL11A1_ENST00000370096.3_Intron|COL11A1_ENST00000512756.1_Intron|COL11A1_ENST00000353414.4_Intron NM_080629.2 NP_542196.2 P12107 COBA1_HUMAN collagen, type XI, alpha 1 297 Nonhelical region. collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1) 258 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) GGCTTTTGCTGATGCTTGATA 0.368000 44 74 0 0 0.008740 0 0 BCAR1 9564 broad.mit.edu 37 16 75276498 75276498 + Missense_Mutation SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr16:75276498G>A ENST00000546196.1 - 2 2068 c.416C>T c.(415-417)cCc>cTc p.P139L BCAR1_ENST00000538440.2_Missense_Mutation_p.P168L|BCAR1_ENST00000393422.2_Missense_Mutation_p.P186L|BCAR1_ENST00000535626.2_Intron|BCAR1_ENST00000418647.3_Missense_Mutation_p.P214L|BCAR1_ENST00000420641.3_Missense_Mutation_p.P186L|BCAR1_ENST00000542031.2_Missense_Mutation_p.P166L|BCAR1_ENST00000393420.6_Missense_Mutation_p.P168L|BCAR1_ENST00000162330.5_Missense_Mutation_p.P168L P56945 BCAR1_HUMAN breast cancer anti-estrogen resistance 1 168 Substrate for kinases (By similarity). actin filament organization|B cell receptor signaling pathway|blood coagulation|cell adhesion|cell division|cell migration|cell proliferation|epidermal growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|integrin-mediated signaling pathway|nerve growth factor receptor signaling pathway|platelet-derived growth factor receptor signaling pathway|positive regulation of cell migration|regulation of apoptosis|regulation of cell growth|T cell receptor signaling pathway cytosol|focal adhesion|membrane fraction|ruffle protein kinase binding|protein phosphatase binding|SH3 domain binding|signal transducer activity breast(2)|central_nervous_system(5)|endometrium(1)|kidney(6)|large_intestine(1)|liver(1)|lung(13)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2) 35 BRCA - Breast invasive adenocarcinoma(221;0.169) AGGCCCTGGGGGCACCTGGTA 0.637000 74 70 0 0 0.014410 0 0 ZNF229 7772 broad.mit.edu 37 19 44932600 44932600 + Missense_Mutation SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr19:44932600G>A ENST00000291187.4 - 6 2660 c.2338C>T c.(2338-2340)Cat>Tat p.H780Y ZNF229_ENST00000588931.1_Missense_Mutation_p.H786Y|CTC-512J12.4_ENST00000588655.1_RNA|ZNF229_ENST00000591289.1_Intron NM_001278510.1 NP_001265439.1 Q9UJW7 ZN229_HUMAN zinc finger protein 229 786 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1) 45 Prostate(69;0.0352) ACTCTCTGATGAACATGAAGA 0.502000 23 35 0 0 0.014323 0 0 FAM177B 400823 broad.mit.edu 37 1 222920392 222920392 + Nonsense_Mutation SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr1:222920392G>A ENST00000445590.2 + 4 476 c.210G>A c.(208-210)tgG>tgA p.W70* FAM177B_ENST00000360827.2_Nonsense_Mutation_p.W70* NM_207468.2 NP_997351.2 A6PVY3 F177B_HUMAN family with sequence similarity 177, member B 70 breast(1)|central_nervous_system(1)|endometrium(1)|lung(2)|ovary(1)|prostate(1)|stomach(1) 8 TACGATTTTGGGCAGGACGAA 0.373000 31 39 0 0 0.003271 0 0 MCF2L2 23101 broad.mit.edu 37 3 182910879 182910879 + Missense_Mutation SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr3:182910879C>T ENST00000328913.3 - 27 3221 c.2924G>A c.(2923-2925)gGc>gAc p.G975D MCF2L2_ENST00000473233.1_Missense_Mutation_p.G975D|MCF2L2_ENST00000468976.1_5'UTR NM_015078.2 NP_055893.2 Q86YR7 MF2L2_HUMAN MCF.2 cell line derived transforming sequence-like 2 975 regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 72 all_cancers(143;1.26e-12)|Ovarian(172;0.0355) all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21) TGCTCCACTGCCTTTGCTTTA 0.498000 28 42 0 0 0.006320 0 0 KCNH7 90134 broad.mit.edu 37 2 163241346 163241346 + Silent SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr2:163241346G>A ENST00000332142.5 - 13 2913 c.2814C>T c.(2812-2814)atC>atT p.I938I NM_033272.3 NP_150375.2 Q9NS40 KCNH7_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 7 938 regulation of transcription, DNA-dependent integral to membrane protein binding|signal transducer activity NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 108 Ibutilide(DB00308) CAATGGAGGAGATGAAAGATG 0.413000 50 63 0 0 0.014410 0 0 USHBP1 83878 broad.mit.edu 37 19 17373466 17373466 + Silent SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr19:17373466C>T ENST00000252597.3 - 4 710 c.537G>A c.(535-537)agG>agA p.R179R USHBP1_ENST00000598570.1_5'UTR|USHBP1_ENST00000431146.2_Silent_p.R115R NM_031941.3 NP_114147.2 Q8N6Y0 USBP1_HUMAN Usher syndrome 1C binding protein 1 179 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 GCCAGGCATTCCTCTCGGCCA 0.662000 30 40 0 0 0.010818 0 0 SERPINA3 12 broad.mit.edu 37 14 95081325 95081325 + Missense_Mutation SNP T T A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr14:95081325T>A ENST00000553947.1 + 5 1510 c.622T>A c.(622-624)Tac>Aac p.Y208N SERPINA3_ENST00000556388.1_Intron|SERPINA3_ENST00000393078.3_Missense_Mutation_p.Y183N|SERPINA3_ENST00000467132.1_Missense_Mutation_p.Y183N|SERPINA3_ENST00000393080.4_Missense_Mutation_p.Y183N P01011 AACT_HUMAN serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3 183 acute-phase response|maintenance of gastrointestinal epithelium|regulation of lipid metabolic process|regulation of proteolysis extracellular region|nucleus DNA binding|protein binding|serine-type endopeptidase inhibitor activity NS(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(17)|ovary(2)|pancreas(1)|skin(3)|stomach(1) 40 all_cancers(154;0.0525)|all_epithelial(191;0.179) COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228) CATCAACGACTACGTGAAGAA 0.493000 36 51 0 0 0.003271 0 0 COL5A3 50509 broad.mit.edu 37 19 10089817 10089817 + Silent SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr19:10089817C>T ENST00000264828.3 - 39 2950 c.2865G>A c.(2863-2865)gaG>gaA p.E955E NM_015719.3 NP_056534.2 P25940 CO5A3_HUMAN collagen, type V, alpha 3 955 Triple-helical region. collagen fibril organization|skin development collagen type V collagen binding|extracellular matrix structural constituent NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 116 Epithelial(33;7.11e-05) CCTTGGCCCCCTCTCTGCCTT 0.582000 24 25 0 0 0.003954 0 0 CHDH 55349 broad.mit.edu 37 3 53857356 53857356 + Nonsense_Mutation SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr3:53857356C>T ENST00000315251.5 - 3 1117 c.680G>A c.(679-681)tGg>tAg p.W227* NM_018397.4 NP_060867.2 Q8NE62 CHDH_HUMAN choline dehydrogenase 227 alcohol metabolic process choline dehydrogenase activity|flavin adenine dinucleotide binding NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1) 17 Hepatocellular(537;0.152) BRCA - Breast invasive adenocarcinoma(193;0.000158)|KIRC - Kidney renal clear cell carcinoma(284;0.00588)|Kidney(284;0.00673)|OV - Ovarian serous cystadenocarcinoma(275;0.118) Choline(DB00122) CATGTCCATCCAGCCGAAGCC 0.607000 6 11 0 0 0.001168 0 0 TEX13A 56157 broad.mit.edu 37 X 104464658 104464658 + Missense_Mutation SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chrX:104464658C>T ENST00000372578.3 - 2 535 c.424G>A c.(424-426)Gag>Aag p.E142K IL1RAPL2_ENST00000344799.4_Intron|IL1RAPL2_ENST00000372582.1_Intron|TEX13A_ENST00000372575.1_Missense_Mutation_p.E142K|TEX13A_ENST00000413579.1_Missense_Mutation_p.E142K NM_031274.3 NP_112564.1 Q9BXU3 TX13A_HUMAN testis expressed 13A 142 intracellular zinc ion binding large_intestine(5)|ovary(2)|upper_aerodigestive_tract(1) 8 TTGTCTCTCTCTTTCTGCACC 0.607000 17 1 0 0 0.010504 0 0 FNDC3B 64778 broad.mit.edu 37 3 171965375 171965375 + Missense_Mutation SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr3:171965375C>T ENST00000336824.4 + 5 416 c.317C>T c.(316-318)cCt>cTt p.P106L FNDC3B_ENST00000416957.1_Missense_Mutation_p.P106L|FNDC3B_ENST00000415807.2_Missense_Mutation_p.P106L NM_001135095.1 NP_001128567.1 Q53EP0 FND3B_HUMAN fibronectin type III domain containing 3B 106 endoplasmic reticulum|integral to membrane breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(26)|ovary(3)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1) 69 all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165) LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14) GBM - Glioblastoma multiforme(1;0.0494) CCCCAGTCTCCTGAGTGTTAT 0.483000 68 70 0 0 0.014410 0 0 C1orf86 199990 broad.mit.edu 37 1 2125571 2125571 + Splice_Site SNP G G A rs34259008 TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr1:2125571G>A ENST00000378545.3 - 3 372 c.371_splice c.e3-1 p.P125_splice C1orf86_ENST00000400919.3_5'UTR|C1orf86_ENST00000378546.4_Splice_Site_p.P22_splice|C1orf86_ENST00000487186.1_5'UTR Q6NZ36 CA086_HUMAN chromosome 1 open reading frame 86 22 central_nervous_system(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 4 all_cancers(77;0.000134)|all_epithelial(69;4.45e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;1.14e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128) Epithelial(90;1.09e-37)|OV - Ovarian serous cystadenocarcinoma(86;1.5e-23)|GBM - Glioblastoma multiforme(42;1.61e-08)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00437)|STAD - Stomach adenocarcinoma(132;0.0134)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199) CCGCCAGAAGGCCTGGGGCAG 0.682000 24 7 0 0 0.003330 0 0 KRT24 192666 broad.mit.edu 37 17 38854567 38854567 + Silent SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr17:38854567C>T ENST00000264651.2 - 8 1556 c.1500G>A c.(1498-1500)aaG>aaA p.K500K NM_019016.2 NP_061889.2 Q2M2I5 K1C24_HUMAN keratin 24 500 Tail. cytoplasm|intermediate filament structural molecule activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 Breast(137;0.00526) CTACGATAGTCTTAGTCACTC 0.408000 12 36 0 0 0.002450 0 0 HTT 3064 broad.mit.edu 37 4 3189493 3189493 + Missense_Mutation SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr4:3189493C>T ENST00000355072.5 + 39 5250 c.5105C>T c.(5104-5106)tCt>tTt p.S1702F NM_002111.6 NP_002102.4 P42858 HD_HUMAN huntingtin 1702 establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 87 all_epithelial(65;0.18) UCEC - Uterine corpus endometrioid carcinoma (64;0.187) CTCTCCTTCTCTCCGTATTTA 0.398000 55 56 0 0 0.014410 0 0 PGM5 5239 broad.mit.edu 37 9 71006611 71006611 + Nonsense_Mutation SNP G G T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr9:71006611G>T ENST00000396396.1 + 5 1088 c.859G>T c.(859-861)Gga>Tga p.G287* PGM5_ENST00000396392.1_Nonsense_Mutation_p.G287*|PGM5_ENST00000604870.2_3'UTR NM_021965.3 NP_068800.2 Q15124 PGM5_HUMAN phosphoglucomutase 5 287 cell adhesion|cellular calcium ion homeostasis|glucose metabolic process costamere|dystrophin-associated glycoprotein complex|focal adhesion|intercalated disc|internal side of plasma membrane|sarcolemma|spot adherens junction|stress fiber|Z disc intramolecular transferase activity, phosphotransferases|magnesium ion binding|structural molecule activity endometrium(5)|kidney(1)|large_intestine(5)|liver(2)|lung(15)|ovary(1)|pancreas(1)|prostate(3)|skin(1) 34 AGGAGAATATGGATTTGGAGC 0.463000 25 46 1.75199e-13 1.86255e-13 0.007291 1 0 TMPRSS11E 28983 broad.mit.edu 37 4 69342107 69342107 + Missense_Mutation SNP A A C TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr4:69342107A>C ENST00000305363.4 + 7 722 c.658A>C c.(658-660)Acc>Ccc p.T220P NM_014058.3 NP_054777.2 Q9UL52 TM11E_HUMAN transmembrane protease, serine 11E 220 Peptidase S1. proteolysis extracellular region|integral to plasma membrane serine-type endopeptidase activity endometrium(1)|lung(19)|pancreas(1)|skin(3) 24 CTGTGGAGCAACCTTAATTAA 0.502000 27 60 0 0 0.008361 0 0 TBXAS1 6916 broad.mit.edu 37 7 139661886 139661886 + Missense_Mutation SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr7:139661886G>A ENST00000263552.6 + 13 1529 c.991G>A c.(991-993)Gag>Aag p.E331K TBXAS1_ENST00000448866.1_Missense_Mutation_p.E330K|TBXAS1_ENST00000436047.2_Missense_Mutation_p.E331K|TBXAS1_ENST00000414508.2_Missense_Mutation_p.E331K|TBXAS1_ENST00000425687.1_Missense_Mutation_p.E263K|TBXAS1_ENST00000462275.1_3'UTR|TBXAS1_ENST00000458722.1_Missense_Mutation_p.E376K|TBXAS1_ENST00000336425.5_Missense_Mutation_p.E330K|TBXAS1_ENST00000411653.1_Missense_Mutation_p.E330K|TBXAS1_ENST00000416849.2_Missense_Mutation_p.E377K NM_001130966.2 NP_001124438.1 P24557 THAS_HUMAN thromboxane A synthase 1 (platelet) 330 I -> T (in dbSNP:rs6140). hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|thromboxane-A synthase activity breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 28 Melanoma(164;0.0142) GACTGTGGATGAGATTGTGGG 0.542000 12 19 0 0 0.013537 0 0 SPOCK3 50859 broad.mit.edu 37 4 167983660 167983660 + Missense_Mutation SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr4:167983660C>T ENST00000357154.3 - 4 364 c.227G>A c.(226-228)gGa>gAa p.G76E SPOCK3_ENST00000512681.1_Intron|SPOCK3_ENST00000511269.1_Missense_Mutation_p.G73E|SPOCK3_ENST00000506886.1_Missense_Mutation_p.G76E|SPOCK3_ENST00000511531.1_Missense_Mutation_p.G76E|SPOCK3_ENST00000541637.1_Intron|SPOCK3_ENST00000541354.1_5'UTR|SPOCK3_ENST00000421836.2_Missense_Mutation_p.G25E|SPOCK3_ENST00000502330.1_Missense_Mutation_p.G76E|SPOCK3_ENST00000512648.1_Missense_Mutation_p.G73E|SPOCK3_ENST00000534949.1_Intron|SPOCK3_ENST00000504953.1_Missense_Mutation_p.G73E|SPOCK3_ENST00000510741.1_Missense_Mutation_p.G73E|SPOCK3_ENST00000535728.1_5'UTR|SPOCK3_ENST00000357545.4_Missense_Mutation_p.G73E|SPOCK3_ENST00000507137.1_5'UTR NM_016950.2 NP_058646.2 Q9BQ16 TICN3_HUMAN sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3 76 signal transduction proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase inhibitor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 38 all_hematologic(180;0.221) Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198) GBM - Glioblastoma multiforme(119;0.02) GAAGGGTTTTCCTGGACTCCA 0.308000 28 30 0 0 0.013726 0 0 PCDHB4 56131 broad.mit.edu 37 5 140503930 140503930 + Missense_Mutation SNP G G A rs140862802 TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr5:140503930G>A ENST00000194152.1 + 1 2350 c.2350G>A c.(2350-2352)Gaa>Aaa p.E784K NM_018938.2 NP_061761.1 Q9Y5E5 PCDB4_HUMAN 784 calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton calcium ion binding p.E784K(1) autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 67 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GGAAGTTAAGGAAAACCCCAA 0.448000 18 10 0 0 0.008871 0 0 PCLO 27445 broad.mit.edu 37 7 82785026 82785026 + Missense_Mutation SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr7:82785026G>A ENST00000423517.2 - 2 1268 c.931C>T c.(931-933)Cct>Tct p.P311S PCLO_ENST00000333891.8_Missense_Mutation_p.P311S NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 301 Gln-rich.|Pro-rich. cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 GGTTTTCCAGGAGTTGGTTGC 0.532000 28 22 0 0 0.007291 0 0 KCNC1 3746 broad.mit.edu 37 11 17793727 17793727 + Missense_Mutation SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr11:17793727G>A ENST00000379472.3 + 2 1116 c.1086G>A c.(1084-1086)atG>atA p.M362I KCNC1_ENST00000265969.6_Missense_Mutation_p.M362I NM_004976.4 NP_004967.1 P48547 KCNC1_HUMAN potassium voltage-gated channel, Shaw-related subfamily, member 1 362 voltage-gated potassium channel complex voltage-gated potassium channel activity breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(7)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 33 TCGCCACCATGATCTACTACG 0.622000 23 25 0 0 0.012319 0 0 OR5T1 390155 broad.mit.edu 37 11 56043337 56043337 + Missense_Mutation SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr11:56043337C>T ENST00000313033.2 + 1 309 c.223C>T c.(223-225)Ctt>Ttt p.L75F NM_001004745.1 NP_001004745.1 Q8NG75 OR5T1_HUMAN olfactory receptor, family 5, subfamily T, member 1 75 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(27)|ovary(2)|pancreas(1)|prostate(2)|skin(1) 43 Esophageal squamous(21;0.00448) GTACTATTTTCTTGGTGTTTT 0.353000 20 27 0 0 0.008871 0 0 INPPL1 3636 broad.mit.edu 37 11 71939530 71939530 + Missense_Mutation SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr11:71939530C>T ENST00000298229.2 + 3 589 c.385C>T c.(385-387)Cgg>Tgg p.R129W INPPL1_ENST00000538751.1_5'UTR|INPPL1_ENST00000541756.1_5'UTR NM_001567.3 NP_001558.3 O15357 SHIP2_HUMAN inositol polyphosphate phosphatase-like 1 129 actin filament organization|cell adhesion|endocytosis actin cortical patch|cytosol actin binding|SH2 domain binding|SH3 domain binding breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 44 ACCGGATGACCGGGATGCCTC 0.652000 28 62 0 0 0.007291 0 0 FAM53C 51307 broad.mit.edu 37 5 137680697 137680697 + Missense_Mutation SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr5:137680697C>T ENST00000239906.5 + 4 748 c.320C>T c.(319-321)cCt>cTt p.P107L FAM53C_ENST00000507506.1_3'UTR|FAM53C_ENST00000513056.1_Intron|FAM53C_ENST00000434981.2_Missense_Mutation_p.P107L NM_016605.2 NP_057689.1 Q9NYF3 FA53C_HUMAN family with sequence similarity 53, member C 107 breast(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 17 KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592) GAGAAGCTTCCTGTGCCCCCT 0.662000 26 9 0 0 0.004656 0 0 SLC27A5 10998 broad.mit.edu 37 19 59022207 59022207 + Missense_Mutation SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr19:59022207C>T ENST00000263093.2 - 2 888 c.779G>A c.(778-780)gGg>gAg p.G260E SLC27A5_ENST00000601355.1_Missense_Mutation_p.G176E NM_012254.2 NP_036386.1 Q9Y2P5 S27A5_HUMAN solute carrier family 27 (fatty acid transporter), member 5 260 bile acid and bile salt transport|bile acid biosynthetic process|very long-chain fatty acid metabolic process endoplasmic reticulum membrane|integral to membrane ATP binding|cholate-CoA ligase activity|long-chain fatty acid-CoA ligase activity central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1) 19 all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.181) AGCCCCCACCCCTGGTGTAGG 0.637000 29 27 0 0 0.007291 0 0 EP300 2033 broad.mit.edu 37 22 41572330 41572330 + Missense_Mutation SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr22:41572330C>T ENST00000263253.7 + 30 6078 c.4859C>T c.(4858-4860)cCc>cTc p.P1620L RP1-85F18.5_ENST00000420537.1_RNA|RP1-85F18.6_ENST00000415054.1_RNA NM_001429.3 NP_001420.2 Q09472 EP300_HUMAN E1A binding protein p300 1620 Binding region for E1A adenovirus. apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia centrosome|histone acetyltransferase complex androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16) 171 CCTCTCATCCCCTGCGATCTG 0.552000 """T, N, F, Mis, O""" """MLL, RUNXBP2""" """colorectal, breast, pancreatic, AML, ALL, DLBCL""" Rubinstein-Taybi syndrome 39 75 0 0 0.006999 0 0 XIRP2 129446 broad.mit.edu 37 2 168105732 168105732 + Silent SNP C C A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr2:168105732C>A ENST00000409195.1 + 9 7919 c.7830C>A c.(7828-7830)ccC>ccA p.P2610P XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409273.1_Silent_p.P2388P|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000295237.9_Silent_p.P2610P|XIRP2_ENST00000409043.1_Intron NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 2435 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 TGGTTCAACCCAGCCCAGGCT 0.463000 35 42 3.90053e-15 4.15778e-15 0.012213 1 0 KIF4B 285643 broad.mit.edu 37 5 154394896 154394896 + Missense_Mutation SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr5:154394896G>A ENST00000435029.4 + 1 1637 c.1477G>A c.(1477-1479)Gaa>Aaa p.E493K NM_001099293.1 NP_001092763.1 Q2VIQ3 KIF4B_HUMAN kinesin family member 4B 493 axon guidance|blood coagulation|microtubule-based movement cytosol|microtubule|nuclear matrix ATP binding|DNA binding|microtubule motor activity breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1) 58 Renal(175;0.00488) Medulloblastoma(196;0.0523) KIRC - Kidney renal clear cell carcinoma(527;0.00112) TACTGCGGTAGAAGAAGAAGC 0.453000 43 13 0 0 0.014410 0 0 ABRA 137735 broad.mit.edu 37 8 107782255 107782255 + Missense_Mutation SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr8:107782255C>T ENST00000311955.3 - 1 218 c.164G>A c.(163-165)gGg>gAg p.G55E NM_139166.4 NP_631905.1 Q8N0Z2 ABRA_HUMAN actin-binding Rho activating protein 55 positive regulation of Rho protein signal transduction|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent|transmembrane transport actin cytoskeleton|plasma membrane|sarcomere actin binding breast(1)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|prostate(2) 27 OV - Ovarian serous cystadenocarcinoma(57;3.83e-09) GTCCTGGGTCCCTCCCGGCAG 0.617000 42 42 0 0 0.009718 0 0 CRAMP1L 57585 broad.mit.edu 37 16 1719012 1719012 + Silent SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr16:1719012C>T ENST00000397412.3 + 19 3444 c.3345C>T c.(3343-3345)gtC>gtT p.V1115V LA16c-431H6.6_ENST00000454337.1_3'UTR|CRAMP1L_ENST00000436138.3_Silent_p.V1112V|CRAMP1L_ENST00000293925.5_Silent_p.V1115V|CRAMP1L_ENST00000262317.4_Silent_p.V490V Q96RY5 CRML_HUMAN Crm, cramped-like (Drosophila) 1115 Ser-rich. nucleus DNA binding NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1) 22 GTGAAGGAGTCCCTCTTTCTC 0.592000 17 11 0 0 0.006122 0 0 NDRG1 10397 broad.mit.edu 37 8 134251180 134251180 + Missense_Mutation SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr8:134251180G>A ENST00000414097.2 - 16 1993 c.1126C>T c.(1126-1128)Ccc>Tcc p.P376S NDRG1_ENST00000521414.1_5'UTR|NDRG1_ENST00000522476.1_Missense_Mutation_p.P310S|NDRG1_ENST00000354944.5_Missense_Mutation_p.P306S|NDRG1_ENST00000518066.1_Missense_Mutation_p.P85S|NDRG1_ENST00000537882.1_Missense_Mutation_p.P295S|NDRG1_ENST00000323851.7_Missense_Mutation_p.P376S|NDRG1_ENST00000518176.1_Missense_Mutation_p.P123S NM_001135242.1 NP_001128714.1 Q92597 NDRG1_HUMAN N-myc downstream regulated 1 376 cellular response to hypoxia|response to metal ion cytoplasm|microtubule cytoskeleton|nucleus|plasma membrane protein binding NDRG1/ERG(5) endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(4)|prostate(1)|skin(1) 17 all_epithelial(106;4.26e-24)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0107) CCCGAGTTGGGGGTGATGTCC 0.711000 T ERG prostate 4 5 0 0 0.009096 0 0 TRPM6 140803 broad.mit.edu 37 9 77377697 77377697 + Missense_Mutation SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr9:77377697C>T ENST00000451710.3 - 26 4127 c.3890G>A c.(3889-3891)aGg>aAg p.R1297K TRPM6_ENST00000360774.1_Missense_Mutation_p.R1297K|TRPM6_ENST00000361255.3_Missense_Mutation_p.R1292K|TRPM6_ENST00000376864.4_Missense_Mutation_p.R1297K|TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000449912.2_Missense_Mutation_p.R1292K|TRPM6_ENST00000376871.3_Intron Q9BX84 TRPM6_HUMAN transient receptor potential cation channel, subfamily M, member 6 1297 response to toxin integral to membrane ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity p.A1299fs*15(1) NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 126 AAGTGCCCCCCTCTGCACTCT 0.478000 70 89 0 0 0.014410 0 0 SLC26A7 115111 broad.mit.edu 37 8 92365223 92365223 + Splice_Site SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr8:92365223G>A ENST00000276609.3 + 11 1552 c.1314_splice c.e11+1 p.W438_splice SLC26A7_ENST00000523719.1_Splice_Site_p.W438_splice|SLC26A7_ENST00000309536.2_Splice_Site_p.W438_splice|SLC26A7_ENST00000520249.1_3'UTR NM_052832.2 NP_439897.1 Q8TE54 S26A7_HUMAN solute carrier family 26 (anion exchanger), member 7 438 basolateral plasma membrane|integral to membrane|recycling endosome membrane anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1) 50 BRCA - Breast invasive adenocarcinoma(11;0.00802) AAAATCGATTGGGTAAGTAGA 0.318000 32 47 0 0 0.012213 0 0 EGFLAM 133584 broad.mit.edu 37 5 38451535 38451535 + Missense_Mutation SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr5:38451535C>T ENST00000322350.5 + 19 3008 c.2662C>T c.(2662-2664)Ctt>Ttt p.L888F EGFLAM_ENST00000397210.3_Missense_Mutation_p.L31F|EGFLAM_ENST00000506135.1_Missense_Mutation_p.L31F|EGFLAM_ENST00000336740.6_Missense_Mutation_p.L654F|EGFLAM_ENST00000397202.2_Missense_Mutation_p.L254F|EGFLAM_ENST00000354891.3_Missense_Mutation_p.L896F|EGFLAM_ENST00000514476.1_Missense_Mutation_p.L31F NM_152403.3 NP_689616.2 Q63HQ2 EGFLA_HUMAN EGF-like, fibronectin type III and laminin G domains 896 Laminin G-like 3. cell junction|proteinaceous extracellular matrix|synapse NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 85 all_lung(31;0.000385) TTCCTTGGGCCTTCGGGATGG 0.517000 49 10 0 0 0.014410 0 0 ZC3HAV1 56829 broad.mit.edu 37 7 138738767 138738767 + Silent SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr7:138738767G>A ENST00000242351.5 - 11 2578 c.2262C>T c.(2260-2262)ttC>ttT p.F754F ZC3HAV1_ENST00000464606.1_Silent_p.F876F NM_020119.3 NP_064504.2 Q7Z2W4 ZCCHV_HUMAN zinc finger CCCH-type, antiviral 1 754 PARP catalytic. response to virus cytoplasm|nucleus NAD+ ADP-ribosyltransferase activity|RNA binding|zinc ion binding cervix(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(4)|skin(1) 37 TTTCAATCTTGAAATTTTTCA 0.338000 15 19 0 0 0.002450 0 0 INS-IGF2 723961 broad.mit.edu 37 11 2170541 2170541 + Silent SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr11:2170541G>A ENST00000397270.1 - 3 280 c.222C>T c.(220-222)acC>acT p.T74T INS-IGF2_ENST00000481781.1_5'UTR|IGF2_ENST00000300632.5_5'UTR NM_001042376.2 NP_001035835.1 Q1WM24 Q1WM24_HUMAN 74 glucose metabolic process extracellular region hormone activity haematopoietic_and_lymphoid_tissue(1)|lung(3)|prostate(1) 5 all_epithelial(84;0.00018)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24) Colorectal(5;0.00245)|COAD - Colon adenocarcinoma(6;0.0239) BRCA - Breast invasive adenocarcinoma(625;0.00256)|LUSC - Lung squamous cell carcinoma(625;0.0832)|Lung(200;0.156) CCTCTGGCCAGGTTGACGTGG 0.592000 38 54 0 0 0.014410 0 0 FSHR 2492 broad.mit.edu 37 2 49216169 49216169 + Silent SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr2:49216169G>A ENST00000406846.2 - 6 590 c.471C>T c.(469-471)atC>atT p.I157I FSHR_ENST00000346173.3_Silent_p.I157I|FSHR_ENST00000469138.1_5'UTR|FSHR_ENST00000541117.1_5'UTR|FSHR_ENST00000304421.4_Intron NM_000145.3 NP_000136.2 P23945 FSHR_HUMAN follicle stimulating hormone receptor 157 female gamete generation|male gonad development|spermatogenesis integral to membrane|plasma membrane follicle-stimulating hormone receptor activity|protein binding NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 73 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094) CAATTGTGTGGATGTTTATGT 0.338000 Gonadal Dysgenesis, 46 XX 9 15 0 0 0.008291 0 0 SLC22A25 387601 broad.mit.edu 37 11 62933578 62933578 + Missense_Mutation SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr11:62933578C>T ENST00000306494.6 - 7 1222 c.1223G>A c.(1222-1224)aGc>aAc p.S408N SLC22A10_ENST00000525620.1_Intron|SLC22A10_ENST00000535888.1_Intron NM_199352.3 NP_955384.3 Q6T423 S22AP_HUMAN solute carrier family 22, member 25 408 transmembrane transport integral to membrane NS(2)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(7)|ovary(3)|skin(7) 34 AAGCATCTGGCTTAGTCGACG 0.478000 19 26 0 0 0.007413 0 0 OTUD7A 161725 broad.mit.edu 37 15 31779660 31779660 + Silent SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr15:31779660C>T ENST00000382902.1 - 9 1373 c.1281G>A c.(1279-1281)ctG>ctA p.L427L OTUD7A_ENST00000307050.4_Silent_p.L420L Q8TE49 OTU7A_HUMAN OTU domain containing 7A 420 Catalytic (By similarity). cytoplasm|nucleus cysteine-type peptidase activity|DNA binding|zinc ion binding endometrium(7)|large_intestine(4)|lung(11)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(4) 30 all_lung(180;1.6e-09) all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208) CTTACTGGGCCAGCCGGGCGT 0.622000 4 12 0 0 0.009096 0 0 NINL 22981 broad.mit.edu 37 20 25481560 25481560 + Silent SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr20:25481560G>A ENST00000278886.6 - 8 1021 c.948C>T c.(946-948)gaC>gaT p.D316D NINL_ENST00000422516.1_Silent_p.D316D NM_025176.4 NP_079452.3 Q9Y2I6 NINL_HUMAN ninein-like 316 G2/M transition of mitotic cell cycle cytosol|microtubule|microtubule organizing center calcium ion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 57 CAGAACCATCGTCAATGCTGG 0.582000 23 28 0 0 0.014323 0 0 C1R 715 broad.mit.edu 37 12 7242713 7242713 + Silent SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr12:7242713G>A ENST00000542285.1 - 3 509 c.360C>T c.(358-360)tcC>tcT p.S120S P00736 C1R_HUMAN complement component 1, r subcomponent 121 CUB 1. complement activation, classical pathway|innate immune response|proteolysis extracellular region calcium ion binding|serine-type endopeptidase activity endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|pancreas(1) 16 Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072) TCTCCTCGTTGGAGAAGTCTG 0.547000 7 9 0 0 0.004482 0 0 INSR 3643 broad.mit.edu 37 19 7267510 7267510 + Silent SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr19:7267510G>A ENST00000341500.5 - 2 537 c.498C>T c.(496-498)tcC>tcT p.S166S INSR_ENST00000302850.5_Silent_p.S166S NM_001079817.1 NP_001073285.1 P06213 INSR_HUMAN insulin receptor 166 activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of DNA replication|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus caveola|endosome membrane|insulin receptor complex|microsome ATP binding|GTP binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|PTB domain binding|receptor signaling protein tyrosine kinase activity|SH2 domain binding breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2) 66 Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) TATCCTCCACGGAATCCAGGA 0.532000 305 430 0 0 0.014410 0 0 TPTE2 93492 broad.mit.edu 37 13 20038604 20038604 + Missense_Mutation SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr13:20038604G>A ENST00000400230.2 - 10 777 c.733C>T c.(733-735)Cca>Tca p.P245S TPTE2_ENST00000255310.6_Missense_Mutation_p.P168S|TPTE2_ENST00000382977.4_Missense_Mutation_p.P245S|TPTE2_ENST00000457266.2_Missense_Mutation_p.P134S|TPTE2_ENST00000382975.4_Missense_Mutation_p.P205S|TPTE2_ENST00000390680.2_Missense_Mutation_p.P168S|TPTE2_ENST00000382978.1_Missense_Mutation_p.P205S|TPTE2_ENST00000400103.2_Missense_Mutation_p.P134S Q6XPS3 TPTE2_HUMAN transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 245 Phosphatase tensin-type. endoplasmic reticulum membrane|integral to membrane ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089) ACCTCAATTGGATTTCTATAG 0.323000 27 18 0 0 0.010818 0 0 ATP13A4 84239 broad.mit.edu 37 3 193156358 193156358 + Missense_Mutation SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr3:193156358G>A ENST00000342695.4 - 23 2900 c.2578C>T c.(2578-2580)Cat>Tat p.H860Y ATP13A4_ENST00000392443.3_Missense_Mutation_p.H841Y NM_032279.2 NP_115655.2 Q4VNC1 AT134_HUMAN ATPase type 13A4 860 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2) 71 all_cancers(143;1.76e-08)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;0.000109) ATGCCCACATGAGCCATTTTC 0.453000 18 18 0 0 0.004990 0 0 GPR158 57512 broad.mit.edu 37 10 25888089 25888089 + Silent SNP C C A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr10:25888089C>A ENST00000376351.3 + 11 3893 c.3534C>A c.(3532-3534)acC>acA p.T1178T GPR158_ENST00000490549.1_3'UTR NM_020752.2 NP_065803.2 Q5T848 GP158_HUMAN G protein-coupled receptor 158 1178 integral to membrane|plasma membrane G-protein coupled receptor activity breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 119 AGTTTGAGACCCCAGCTCAAC 0.458000 25 33 9.57634e-11 1.01536e-10 0.003330 1 0 PVRL1 5818 broad.mit.edu 37 11 119549429 119549429 + Silent SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr11:119549429G>A ENST00000264025.3 - 2 656 c.126C>T c.(124-126)ttC>ttT p.F42F PVRL1_ENST00000524510.1_5'UTR|PVRL1_ENST00000340882.2_Silent_p.F42F|PVRL1_ENST00000341398.2_Silent_p.F42F NM_002855.4 NP_002846.3 Q15223 PVRL1_HUMAN poliovirus receptor-related 1 (herpesvirus entry mediator C) 42 Ig-like V-type. adherens junction organization|cell junction assembly|entry of virus into host cell|heterophilic cell-cell adhesion|homophilic cell adhesion|immune response cell-cell adherens junction|extracellular region|integral to membrane cell adhesion molecule binding|coreceptor activity|protein homodimerization activity breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 Breast(348;0.037)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;4.29e-05) CTGTGCCGATGAAGCCATACA 0.607000 8 5 0 0 0.003080 0 0 KCNQ2 3785 broad.mit.edu 37 20 62070013 62070013 + Missense_Mutation SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr20:62070013C>T ENST00000354587.3 - 7 1164 c.988G>A c.(988-990)Gag>Aag p.E330K KCNQ2_ENST00000370226.1_Missense_Mutation_p.E330K|KCNQ2_ENST00000344425.5_Missense_Mutation_p.E330K|KCNQ2_ENST00000359125.2_Missense_Mutation_p.E330K|KCNQ2_ENST00000370221.1_Missense_Mutation_p.E330K|KCNQ2_ENST00000344462.3_Missense_Mutation_p.E330K|KCNQ2_ENST00000370222.3_Missense_Mutation_p.E330K|KCNQ2_ENST00000370224.1_Missense_Mutation_p.E330K|KCNQ2_ENST00000430658.1_Missense_Mutation_p.E330K|KCNQ2_ENST00000359689.1_Missense_Mutation_p.E330K|KCNQ2_ENST00000360480.3_Missense_Mutation_p.E330K|KCNQ2_ENST00000357249.2_Missense_Mutation_p.E330K O43526 KCNQ2_HUMAN potassium voltage-gated channel, KQT-like subfamily, member 2 330 axon guidance|synaptic transmission voltage-gated potassium channel complex voltage-gated potassium channel activity biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|liver(1)|lung(30)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 65 all_cancers(38;1.24e-11) BRCA - Breast invasive adenocarcinoma(10;1.04e-05) Amitriptyline(DB00321) CGCCTCTTCTCAAAGTGCTTC 0.622000 20 44 0 0 0.010504 0 0 KRT25 147183 broad.mit.edu 37 17 38911513 38911513 + Missense_Mutation SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr17:38911513C>T ENST00000312150.4 - 1 71 c.11G>A c.(10-12)cGa>cAa p.R4Q NM_181534.3 NP_853512.1 Q7Z3Z0 K1C25_HUMAN keratin 25 4 Head. cytoplasm|intermediate filament structural molecule activity endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(4) 16 Breast(137;0.00526) ACTGGAAAGTCGAAGAGACAT 0.488000 16 26 0 0 0.004990 0 0 INHBB 3625 broad.mit.edu 37 2 121107433 121107433 + Missense_Mutation SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr2:121107433G>A ENST00000295228.3 + 2 1253 c.1207G>A c.(1207-1209)Gag>Aag p.E403K NM_002193.2 NP_002184.2 P09529 INHBB_HUMAN inhibin, beta B 403 activin receptor signaling pathway|cellular response to insulin stimulus|cellular response to starvation|defense response|fat cell differentiation|growth|negative regulation of follicle-stimulating hormone secretion|negative regulation of hepatocyte growth factor biosynthetic process|negative regulation of insulin secretion|ovarian follicle development|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation extracellular region|perinuclear region of cytoplasm cytokine activity|growth factor activity|hormone activity|host cell surface receptor binding|protein homodimerization activity NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(4)|pancreas(2)|skin(2) 15 Prostate(154;0.122) GATTGTGGAGGAGTGCGGCTG 0.632000 11 9 0 0 0.010729 0 0 NUP210L 91181 broad.mit.edu 37 1 154108432 154108432 + Silent SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr1:154108432C>T ENST00000368559.3 - 7 938 c.867G>A c.(865-867)ctG>ctA p.L289L NUP210L_ENST00000271854.3_Silent_p.L289L NM_207308.2 NP_997191.2 Q5VU65 P210L_HUMAN nucleoporin 210kDa-like 289 integral to membrane NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2) 80 all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128) LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198) TATAATGTTCCAGGGGAAATT 0.383000 9 24 0 0 0.004482 0 0 DPP10 57628 broad.mit.edu 37 2 116535372 116535372 + Silent SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr2:116535372G>A ENST00000410059.1 + 15 1803 c.1323G>A c.(1321-1323)ctG>ctA p.L441L DPP10_ENST00000409163.1_Silent_p.L391L|DPP10_ENST00000393147.2_Silent_p.L445L|DPP10_ENST00000310323.8_Silent_p.L434L NM_001178037.1|NM_020868.3 NP_001171508.1|NP_065919.2 Q8N608 DPP10_HUMAN dipeptidyl-peptidase 10 (non-functional) 441 proteolysis integral to membrane|membrane fraction serine-type peptidase activity breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1) 101 GTTACTTTCTGAGCACTGAAT 0.408000 25 32 0 0 0.005443 0 0 NPY4R 5540 broad.mit.edu 37 10 47087158 47087158 + Silent SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr10:47087158G>A ENST00000374312.1 + 3 794 c.375G>A c.(373-375)gtG>gtA p.V125V NPY4R_ENST00000395716.1_Silent_p.V125V NM_005972.4 NP_005963.3 neuropeptide Y receptor Y4 GCATGTCGGTGACGGTCTCCA 0.592000 40 272 0 0 0.013114 0 0 CUX2 23316 broad.mit.edu 37 12 111745042 111745042 + Missense_Mutation SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr12:111745042G>A ENST00000261726.6 + 12 1244 c.1090G>A c.(1090-1092)Gaa>Aaa p.E364K NM_015267.3 NP_056082.2 O14529 CUX2_HUMAN cut-like homeobox 2 364 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 55 TGACTATGAGGAAATTAAAAC 0.552000 24 32 0 0 0.006320 0 0 ZNF714 148206 broad.mit.edu 37 19 21300609 21300609 + Missense_Mutation SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr19:21300609C>T ENST00000596143.1 + 5 1464 c.1139C>T c.(1138-1140)tCc>tTc p.S380F ZNF714_ENST00000291770.7_3'UTR|ZNF714_ENST00000601416.1_3'UTR|ZNF714_ENST00000596053.1_Intron NM_182515.3 NP_872321.2 Q96N38 ZN714_HUMAN zinc finger protein 714 381 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(3)|lung(11)|urinary_tract(2) 18 TTTAACCACTCCTCAAAACTT 0.358000 8 13 0 0 0.006214 0 0 ZCWPW2 152098 broad.mit.edu 37 3 28476704 28476704 + Missense_Mutation SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr3:28476704C>T ENST00000383768.2 + 4 624 c.436C>T c.(436-438)Cat>Tat p.H146Y ZCWPW2_ENST00000421010.1_Missense_Mutation_p.H146Y Q504Y3 ZCPW2_HUMAN zinc finger, CW type with PWWP domain 2 146 PWWP. zinc ion binding haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(6)|ovary(2) 17 GGGCGATCCCCATTCAAGATC 0.373000 30 46 0 0 0.009535 0 0 C1orf106 55765 broad.mit.edu 37 1 200868693 200868693 + Missense_Mutation SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr1:200868693G>A ENST00000367342.4 + 3 603 c.403G>A c.(403-405)Gag>Aag p.E135K C1orf106_ENST00000413687.2_Missense_Mutation_p.E50K NM_018265.3 NP_060735.3 Q3KP66 CA106_HUMAN chromosome 1 open reading frame 106 135 endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(2) 21 GGCCTGCCTGGAGGAGCTGAG 0.647000 7 8 0 0 0.003080 0 0 POLA2 23649 broad.mit.edu 37 11 65046214 65046214 + Nonsense_Mutation SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr11:65046214C>T ENST00000265465.3 + 6 1006 c.475C>T c.(475-477)Cag>Tag p.Q159* POLA2_ENST00000541089.1_5'UTR NM_002689.2 NP_002680.2 Q14181 DPOA2_HUMAN polymerase (DNA directed), alpha 2, accessory subunit 159 DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication nucleoplasm DNA binding endometrium(1)|large_intestine(2)|lung(7)|urinary_tract(1) 11 Dacarbazine(DB00851) TACTCCCTCCCAGAAATACAA 0.443000 63 74 0 0 0.014410 0 0 USP29 57663 broad.mit.edu 37 19 57641439 57641439 + Missense_Mutation SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr19:57641439C>T ENST00000254181.4 + 4 1850 c.1396C>T c.(1396-1398)Cct>Tct p.P466S USP29_ENST00000598197.1_Missense_Mutation_p.P466S NM_020903.2 NP_065954.1 Q9HBJ7 UBP29_HUMAN ubiquitin specific peptidase 29 466 protein modification process|ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 85 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) AAAACCACTTCCTTTGTCCAT 0.383000 40 50 0 0 0.004878 0 0 NLGN4X 57502 broad.mit.edu 37 X 5811130 5811130 + Missense_Mutation SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chrX:5811130C>T ENST00000381095.3 - 6 2806 c.2179G>A c.(2179-2181)Gaa>Aaa p.E727K NLGN4X_ENST00000275857.6_Missense_Mutation_p.E727K|NLGN4X_ENST00000381092.1_Missense_Mutation_p.E727K|NLGN4X_ENST00000538097.1_Missense_Mutation_p.E727K|NLGN4X_ENST00000381093.2_Missense_Mutation_p.E747K NM_181332.1 NP_851849.1 Q8N0W4 NLGNX_HUMAN neuroligin 4, X-linked 727 brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior cell surface|dendrite|integral to plasma membrane|synapse chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity p.E727*(1)|p.E727K(1) breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1) 81 ATGATCTCTTCGTTCTGGATG 0.552000 25 0 0 0 0.003330 0 0 LMTK3 114783 broad.mit.edu 37 19 49001418 49001418 + Missense_Mutation SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr19:49001418C>T ENST00000600059.1 - 11 3135 c.2908G>A c.(2908-2910)Gag>Aag p.E970K LMTK3_ENST00000270238.3_Missense_Mutation_p.E999K lemur tyrosine kinase 3 breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(9)|prostate(1) 16 all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231) GCTTTCTCCTCCCTCCTTGGG 0.642000 64 67 0 0 0.014410 0 0 EXOC3L2 90332 broad.mit.edu 37 19 45719417 45719417 + Silent SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr19:45719417G>A ENST00000413988.1 - 9 895 c.855C>T c.(853-855)ccC>ccT p.P285P AC006126.3_ENST00000591569.1_Intron|EXOC3L2_ENST00000252482.3_Silent_p.P285P NM_138568.3 NP_612635.3 Q2M3D2 EX3L2_HUMAN exocyst complex component 3-like 2 285 endometrium(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 12 all_neural(266;0.224)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.00883) CAGCCAAATGGGGCACCACGG 0.642000 19 27 0 0 0.012319 0 0 TET3 200424 broad.mit.edu 37 2 74274088 74274088 + Silent SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr2:74274088G>A ENST00000409262.3 + 1 639 c.639G>A c.(637-639)aaG>aaA p.K213K NM_144993.1 NP_659430.1 O43151 TET3_HUMAN tet methylcytosine dioxygenase 3 213 metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 GCATTGCCAAGGAAAAAAACA 0.607000 19 26 0 0 0.008871 0 0 THOC7 80145 broad.mit.edu 37 3 63823682 63823682 + Nonsense_Mutation SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr3:63823682G>A ENST00000295899.5 - 4 434 c.322C>T c.(322-324)Caa>Taa p.Q108* THOC7_ENST00000498422.1_5'UTR|C3orf49_ENST00000295896.8_Intron NM_025075.2 NP_079351.2 Q6I9Y2 THOC7_HUMAN THO complex 7 homolog (Drosophila) 108 Interaction with NIF3L1.|Interaction with THOC5. intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing cytoplasm|THO complex part of transcription export complex protein binding|RNA binding central_nervous_system(1)|large_intestine(1)|ovary(1)|pancreas(1) 4 BRCA - Breast invasive adenocarcinoma(55;0.000439)|Kidney(15;0.00194)|KIRC - Kidney renal clear cell carcinoma(15;0.00218) CGTTTTGCTTGAAGAATTTGC 0.318000 22 38 0 0 0.003954 0 0 CD1C 911 broad.mit.edu 37 1 158262110 158262110 + Missense_Mutation SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr1:158262110C>T ENST00000368170.3 + 3 844 c.565C>T c.(565-567)Ctc>Ttc p.L189F NM_001765.2 NP_001756.2 P29017 CD1C_HUMAN CD1c molecule 189 antigen processing and presentation|T cell activation involved in immune response endosome membrane|integral to plasma membrane endogenous lipid antigen binding|exogenous lipid antigen binding|glycolipid binding|lipopeptide binding NS(1)|endometrium(3)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1) 39 all_hematologic(112;0.0378) CCCCCGATTTCTCTTGGGTCT 0.453000 136 148 0 0 0.014410 0 0 OR13C8 138802 broad.mit.edu 37 9 107332076 107332076 + Missense_Mutation SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr9:107332076C>T ENST00000335040.1 + 1 628 c.628C>T c.(628-630)Cca>Tca p.P210S NM_001004483.1 NP_001004483.1 Q8NGS7 O13C8_HUMAN olfactory receptor, family 13, subfamily C, member 8 210 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|skin(1) 25 TCTGGTTATTCCATTGTTAGT 0.388000 27 58 0 0 0.005443 0 0 SYT16 83851 broad.mit.edu 37 14 62536415 62536415 + Silent SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr14:62536415G>A ENST00000430451.2 + 2 815 c.618G>A c.(616-618)caG>caA p.Q206Q RP11-355I22.5_ENST00000553990.1_lincRNA|SYT16_ENST00000446982.2_Silent_p.Q206Q NM_031914.2 NP_114120.2 Q17RD7 SYT16_HUMAN synaptotagmin XVI 206 central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 35 OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118) CCCGGTCCCAGAGTTTCCGTT 0.493000 49 66 0 0 0.014410 0 0 CIZ1 25792 broad.mit.edu 37 9 130931699 130931699 + Missense_Mutation SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr9:130931699C>T ENST00000538431.1 - 14 2456 c.2209G>A c.(2209-2211)Gac>Aac p.D737N CIZ1_ENST00000325721.8_Missense_Mutation_p.D682N|CIZ1_ENST00000277465.4_Missense_Mutation_p.D683N|CIZ1_ENST00000541172.1_Missense_Mutation_p.D610N|CIZ1_ENST00000476727.2_5'UTR|CIZ1_ENST00000372948.3_Missense_Mutation_p.D655N|CIZ1_ENST00000372938.5_Missense_Mutation_p.D711N|CIZ1_ENST00000393608.1_Missense_Mutation_p.D711N|CIZ1_ENST00000357558.5_Missense_Mutation_p.D683N|CIZ1_ENST00000372954.1_Missense_Mutation_p.D631N NM_001257975.1 NP_001244904.1 Q9ULV3 CIZ1_HUMAN CDKN1A interacting zinc finger protein 1 711 nucleus nucleic acid binding|protein binding|zinc ion binding NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|liver(1)|lung(9)|ovary(3)|prostate(2)|urinary_tract(2) 35 TTGGCTTTGTCCTTATGCCCC 0.542000 19 22 0 0 0.012319 0 0 OR5H1 26341 broad.mit.edu 37 3 97852045 97852045 + Silent SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr3:97852045C>T ENST00000354565.2 + 1 504 c.504C>T c.(502-504)ttC>ttT p.F168F RP11-343D2.11_ENST00000508964.1_RNA NM_001005338.1 NP_001005338.1 A6NKK0 OR5H1_HUMAN olfactory receptor, family 5, subfamily H, member 1 168 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(7)|kidney(8)|large_intestine(3)|lung(13)|ovary(1)|skin(1) 34 GACTAACCTTCTGTAACTCCA 0.328000 23 36 0 0 0.009535 0 0 TECTA 7007 broad.mit.edu 37 11 121023770 121023770 + Missense_Mutation SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr11:121023770C>T ENST00000392793.1 + 13 4557 c.4286C>T c.(4285-4287)tCc>tTc p.S1429F TECTA_ENST00000264037.2_Missense_Mutation_p.S1429F O75443 TECTA_HUMAN tectorin alpha 1429 cell-matrix adhesion|sensory perception of sound anchored to membrane|plasma membrane|proteinaceous extracellular matrix TECTA/TBCEL(2) NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 135 all_hematologic(175;0.208) Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166) GGCTGCTACTCCGATGGCAAA 0.572000 9 18 0 0 0.004482 0 0 ATG13 9776 broad.mit.edu 37 11 46667426 46667426 + Silent SNP T T C TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr11:46667426T>C ENST00000434074.1 + 4 846 c.157T>C c.(157-159)Tta>Cta p.L53L ATG13_ENST00000359513.4_Silent_p.L53L|ATG13_ENST00000526508.1_Silent_p.L53L|ATG13_ENST00000524625.1_Silent_p.L53L|ATG13_ENST00000528494.1_Silent_p.L53L|ATG13_ENST00000530500.1_5'UTR|ATG13_ENST00000451945.1_Silent_p.L53L|ATG13_ENST00000529655.1_Silent_p.L53L|ATG13_ENST00000312040.4_Silent_p.L53L NM_001205120.1 NP_001192049.1 O75143 ATG13_HUMAN autophagy related 13 53 autophagic vacuole assembly cytosol|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex protein binding NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|prostate(1)|skin(1) 15 CCAGTTCAACTTAGCAATCAA 0.443000 22 19 0 0 0.012319 0 0 TRPM6 140803 broad.mit.edu 37 9 77370359 77370359 + Missense_Mutation SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr9:77370359C>T ENST00000451710.3 - 28 5053 c.4816G>A c.(4816-4818)Gac>Aac p.D1606N TRPM6_ENST00000360774.1_Missense_Mutation_p.D1606N|TRPM6_ENST00000361255.3_Missense_Mutation_p.D1601N|TRPM6_ENST00000376864.4_Missense_Mutation_p.D1606N|TRPM6_ENST00000376872.3_Missense_Mutation_p.D557N|TRPM6_ENST00000449912.2_Missense_Mutation_p.D1601N|TRPM6_ENST00000376871.3_Intron Q9BX84 TRPM6_HUMAN transient receptor potential cation channel, subfamily M, member 6 1606 response to toxin integral to membrane ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 126 TTCAACTGGTCACTCTGAGAG 0.428000 24 35 0 0 0.002780 0 0 SERPINB3 6317 broad.mit.edu 37 18 61324524 61324524 + Missense_Mutation SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr18:61324524C>T ENST00000283752.5 - 6 735 c.592G>A c.(592-594)Gaa>Aaa p.E198K SERPINB3_ENST00000332821.8_Missense_Mutation_p.E198K|SERPINB11_ENST00000489748.1_RNA NM_006919.2 NP_008850.1 P29508 SPB3_HUMAN serpin peptidase inhibitor, clade B (ovalbumin), member 3 198 regulation of proteolysis cytoplasm|extracellular region protein binding|serine-type endopeptidase inhibitor activity breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2) 36 CAAAATTTTTCCTCTTTAGTA 0.294000 19 13 0 0 0.006122 0 0 CNTN5 53942 broad.mit.edu 37 11 100169975 100169975 + Missense_Mutation SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr11:100169975G>A ENST00000524871.1 + 20 2757 c.2467G>A c.(2467-2469)Gaa>Aaa p.E823K CNTN5_ENST00000418526.2_Missense_Mutation_p.E749K|CNTN5_ENST00000279463.3_Missense_Mutation_p.E823K|CNTN5_ENST00000528682.1_Missense_Mutation_p.E823K|CNTN5_ENST00000527185.1_Missense_Mutation_p.E823K|CNTN5_ENST00000524560.1_3'UTR NM_014361.3 NP_055176.1 O94779 CNTN5_HUMAN contactin 5 823 Fibronectin type-III 2. cell adhesion anchored to membrane|plasma membrane protein binding p.E823K(1) NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 81 all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219) BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196) TGGCTGGAAGGAAAAAATGGT 0.408000 8 30 0 0 0.003080 0 0 CFHR3 10878 broad.mit.edu 37 1 196757478 196757478 + Missense_Mutation SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr1:196757478G>A ENST00000471440.2 + 4 637 c.563G>A c.(562-564)gGa>gAa p.G188E CFHR3_ENST00000367425.4_Missense_Mutation_p.G188E|CFHR3_ENST00000391985.3_Intron complement factor H-related 3 breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 18 AATTCTTCAGGATCAATTACA 0.323000 30 39 0 0 0.003271 0 0 MYH4 4622 broad.mit.edu 37 17 10353813 10353813 + Missense_Mutation SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr17:10353813C>T ENST00000255381.2 - 30 4248 c.4138G>A c.(4138-4140)Gag>Aag p.E1380K CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA NM_017533.2 NP_060003.2 Q9Y623 MYH4_HUMAN myosin, heavy chain 4, skeletal muscle 1380 muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 149 GCGTCCGTCTCGTACTTGGTC 0.557000 49 90 0 0 0.014410 0 0 SLC6A1 6529 broad.mit.edu 37 3 11067167 11067167 + Silent SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr3:11067167C>T ENST00000287766.4 + 8 1168 c.747C>T c.(745-747)atC>atT p.I249I SLC6A1_ENST00000536032.1_Silent_p.I71I NM_003042.3 NP_003033.3 P30531 SC6A1_HUMAN solute carrier family 6 (neurotransmitter transporter), member 1 249 neurotransmitter secretion integral to plasma membrane gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity breast(1)|endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(1) 26 Ovarian(110;0.0392) OV - Ovarian serous cystadenocarcinoma(96;0.00099) Cocaine(DB00907)|Tiagabine(DB00906) ACCCCTACATCATGCTGATCA 0.572000 19 27 0 0 0.012319 0 0 ZNF534 147658 broad.mit.edu 37 19 52942068 52942068 + Missense_Mutation SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr19:52942068C>T ENST00000332323.6 + 4 1455 c.1394C>T c.(1393-1395)tCc>tTc p.S465F ZNF534_ENST00000433050.1_Missense_Mutation_p.S452F|ZNF534_ENST00000301085.4_Intron|ZNF534_ENST00000432303.2_Intron NM_001143939.1 NP_001137411.1 Q76KX8 ZN534_HUMAN zinc finger protein 534 465 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|lung(1)|prostate(1)|skin(1) 4 CACAAGTCTTCCCTAACCTAT 0.423000 4 1 0 0 0.000602 0 0 LRIG1 26018 broad.mit.edu 37 3 66433779 66433779 + Silent SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr3:66433779C>T ENST00000383703.3 - 16 2652 c.2049G>A c.(2047-2049)gtG>gtA p.V683V LRIG1_ENST00000273261.3_Silent_p.V706V|LRIG1_ENST00000496559.2_5'UTR|SLC25A26_ENST00000536651.1_Intron Q96JA1 LRIG1_HUMAN leucine-rich repeats and immunoglobulin-like domains 1 706 Ig-like C2-type 2. integral to membrane NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1) 42 Lung NSC(201;0.0101) BRCA - Breast invasive adenocarcinoma(55;0.00047) CTGTTTCTCCCACAGATACCA 0.607000 35 52 0 0 0.006230 0 0 TMEM67 91147 broad.mit.edu 37 8 94794663 94794663 + Missense_Mutation SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr8:94794663C>T ENST00000453321.3 + 11 1164 c.1106C>T c.(1105-1107)tCa>tTa p.S369L TMEM67_ENST00000425545.2_3'UTR|TMEM67_ENST00000409623.3_Missense_Mutation_p.S288L NM_153704.5 NP_714915.3 Q5HYA8 MKS3_HUMAN transmembrane protein 67 369 cilium assembly|ER-associated protein catabolic process|negative regulation of centrosome duplication centrosome|cilium membrane|cytoplasmic vesicle membrane|endoplasmic reticulum membrane|integral to membrane|microtubule basal body unfolded protein binding breast(3)|endometrium(8)|kidney(5)|large_intestine(4)|liver(2)|lung(15)|ovary(2)|skin(1)|urinary_tract(1) 41 Breast(36;4.14e-07) BRCA - Breast invasive adenocarcinoma(8;0.00896) GCTGCTTATTCATTTGGAACA 0.303000 24 23 0 0 0.005443 0 0 GABRA6 2559 broad.mit.edu 37 5 161118971 161118971 + Missense_Mutation SNP C C T rs77320885 TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr5:161118971C>T ENST00000523217.1 + 8 1063 c.821C>T c.(820-822)aCc>aTc p.T274I GABRA6_ENST00000274545.5_Missense_Mutation_p.T284I NM_000811.2 NP_000802.2 Q16445 GBRA6_HUMAN gamma-aminobutyric acid (GABA) A receptor, alpha 6 284 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2) 57 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) Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) TTAACTATGACCACTTTGAGC 0.403000 TCGA Ovarian(5;0.080) 33 9 0 0 0.009535 0 0 SREK1 140890 broad.mit.edu 37 5 65470803 65470803 + Missense_Mutation SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr5:65470803C>T ENST00000334121.6 + 10 1673 c.1514C>T c.(1513-1515)tCt>tTt p.S505F SREK1_ENST00000284041.3_3'UTR|SREK1_ENST00000380918.3_Missense_Mutation_p.S389F NM_001077199.2|NM_001270492.1 NP_001070667.1|NP_001257421.1 Q8WXA9 SREK1_HUMAN splicing regulatory glutamine/lysine-rich protein 1 389 mRNA processing|RNA splicing spliceosomal complex nucleic acid binding|nucleotide binding|protein binding breast(1)|kidney(3)|large_intestine(2)|lung(1)|pancreas(1)|prostate(1) 9 AGCAGGAGTTCTTCCAGATCG 0.398000 12 5 0 0 0.006122 0 0 HSPA6 3310 broad.mit.edu 37 1 161496150 161496150 + Missense_Mutation SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr1:161496150G>A ENST00000309758.4 + 1 2115 c.1702G>A c.(1702-1704)Gac>Aac p.D568N NM_002155.3 NP_002146.2 P17066 HSP76_HUMAN heat shock 70kDa protein 6 (HSP70B') 568 response to unfolded protein ATP binding endometrium(3)|large_intestine(5)|lung(9)|prostate(2)|skin(2) 21 all_cancers(52;4.89e-16)|all_hematologic(112;0.0207) BRCA - Breast invasive adenocarcinoma(70;0.00376) TCCCGAAGAGGACAGGCGCAA 0.537000 7 8 0 0 0.001984 0 0 ZNF599 148103 broad.mit.edu 37 19 35251394 35251394 + Silent SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr19:35251394G>A ENST00000329285.7 - 4 685 c.312C>T c.(310-312)ttC>ttT p.F104F NM_001007248.2 NP_001007249.1 Q96NL3 ZN599_HUMAN zinc finger protein 599 104 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|skin(1) 24 all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.138) GAAGTTCCTGGAAAGAGGATT 0.438000 28 27 0 0 0.007291 0 0 OR8S1 341568 broad.mit.edu 37 12 48920048 48920048 + Missense_Mutation SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr12:48920048C>T ENST00000310194.1 + 1 634 c.634C>T c.(634-636)Ctt>Ttt p.L212F OR8S1_ENST00000551654.1_Intron NM_001005203.2 NP_001005203.2 Q8NH09 OR8S1_HUMAN olfactory receptor, family 8, subfamily S, member 1 212 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|skin(4) 22 GGGAAACTTCCTTTTGGTCTT 0.532000 21 38 0 0 0.012319 0 0 UBE3A 7337 broad.mit.edu 37 15 25616380 25616380 + Missense_Mutation SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr15:25616380G>A ENST00000232165.3 - 6 1597 c.941C>T c.(940-942)cCc>cTc p.P314L UBE3A_ENST00000566215.1_Missense_Mutation_p.P294L|UBE3A_ENST00000428984.2_Missense_Mutation_p.P294L|SNHG14_ENST00000554726.1_RNA|UBE3A_ENST00000438097.1_Missense_Mutation_p.P294L|UBE3A_ENST00000397954.2_Missense_Mutation_p.P317L NM_000462.3|NM_130839.2 NP_000453.2|NP_570854.1 Q05086 UBE3A_HUMAN ubiquitin protein ligase E3A 317 brain development|interspecies interaction between organisms|protein K48-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus|proteasome complex protein binding|ubiquitin-protein ligase activity breast(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3) 38 all_cancers(20;3.47e-21)|Breast(32;0.00123) all cancers(64;2.78e-08)|Epithelial(43;8.85e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0155)|Lung(196;0.0616) GGCTGCAAGGGGTAGCTTGCT 0.393000 30 27 0 0 0.008361 0 0 KIF2B 84643 broad.mit.edu 37 17 51902255 51902255 + Missense_Mutation SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr17:51902255G>A ENST00000268919.4 + 1 2017 c.1861G>A c.(1861-1863)Gaa>Aaa p.E621K NM_032559.4 NP_115948.4 Q8N4N8 KIF2B_HUMAN kinesin family member 2B 621 blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle ATP binding|microtubule motor activity NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 104 CCAATGGCTGGAAAACATCCA 0.453000 40 49 0 0 0.009718 0 0 TNFSF4 7292 broad.mit.edu 37 1 173176313 173176313 + Translation_Start_Site SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr1:173176313C>T ENST00000281834.3 - 1 139 c.3G>A c.(1-3)atG>atA p.M1I NM_003326.3 NP_003317.1 P23510 TNFL4_HUMAN tumor necrosis factor (ligand) superfamily, member 4 1 acute inflammatory response|cellular response to lipopolysaccharide|cellular response to prostaglandin E stimulus|chemokine (C-C motif) ligand 11 production|defense response to nematode|interleukin-4-dependent isotype switching to IgE isotypes|memory T cell activation|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of regulatory T cell differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of T-helper 1 cell differentiation|negative regulation of transcription, DNA-dependent|positive regulation of alpha-beta T cell proliferation|positive regulation of B cell activation|positive regulation of immunoglobulin mediated immune response|positive regulation of immunoglobulin secretion|positive regulation of inflammatory response|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-13 production|positive regulation of interleukin-4 production|positive regulation of interleukin-6 production|positive regulation of memory T cell differentiation|positive regulation of T cell cytokine production|positive regulation of T-helper 2 cell differentiation|positive regulation of type 2 immune response|response to virus|signal transduction|T-helper 2 cell activation cell surface|extracellular space|integral to plasma membrane cytokine activity breast(2)|central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)|urinary_tract(1) 12 GGACCCTTTCCATCTTCACAA 0.473000 28 46 0 0 0.008361 0 0 IL20RA 53832 broad.mit.edu 37 6 137329796 137329796 + Missense_Mutation SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr6:137329796C>T ENST00000367748.1 - 4 917 c.331G>A c.(331-333)Gtc>Atc p.V111I IL20RA_ENST00000541547.1_Missense_Mutation_p.V173I|IL20RA_ENST00000468393.1_5'UTR|IL20RA_ENST00000316649.5_Missense_Mutation_p.V222I Q9UHF4 I20RA_HUMAN interleukin 20 receptor, alpha 222 Fibronectin type-III 1. integral to membrane receptor activity NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 27 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.000351)|OV - Ovarian serous cystadenocarcinoma(155;0.00459) GGCCCTGGGACGAAGGACTCC 0.542000 37 56 0 0 0.004878 0 0 LPHN1 22859 broad.mit.edu 37 19 14269966 14269966 + Silent SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr19:14269966C>T ENST00000340736.6 - 12 2397 c.2100G>A c.(2098-2100)gaG>gaA p.E700E CTB-55O6.12_ENST00000588387.1_RNA|LPHN1_ENST00000361434.3_Silent_p.E695E|CTB-55O6.12_ENST00000592086.1_RNA NM_001008701.2 NP_001008701.1 O94910 LPHN1_HUMAN latrophilin 1 700 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|sugar binding central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 TCGGGTACTCCTCCTGGGGGA 0.612000 36 59 0 0 0.003271 0 0 APBB1IP 54518 broad.mit.edu 37 10 26825083 26825083 + Nonsense_Mutation SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr10:26825083G>A ENST00000376236.4 + 10 1436 c.981G>A c.(979-981)tgG>tgA p.W327* NM_019043.3 NP_061916.3 Q7Z5R6 AB1IP_HUMAN amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein 327 PH. blood coagulation|signal transduction cytoskeleton|cytosol|focal adhesion|lamellipodium central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(27)|skin(7)|upper_aerodigestive_tract(1) 45 AGAAATCCTGGAAAAGGCGCT 0.363000 53 86 0 0 0.014410 0 0 LRRC15 131578 broad.mit.edu 37 3 194081166 194081166 + Missense_Mutation SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr3:194081166G>A ENST00000347624.3 - 2 692 c.607C>T c.(607-609)Cgg>Tgg p.R203W LRRC15_ENST00000439944.2_Missense_Mutation_p.R209W|LRRC15_ENST00000428839.1_Missense_Mutation_p.R209W NM_130830.4 NP_570843.2 Q8TF66 LRC15_HUMAN leucine rich repeat containing 15 203 integral to membrane biliary_tract(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(20)|ovary(4)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 all_cancers(143;5.31e-09)|Ovarian(172;0.0634) OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;4.94e-05) TCATACAGCCGGAGGACCTGG 0.562000 95 93 0 0 0.014410 0 0 PCDHB12 56124 broad.mit.edu 37 5 140590315 140590315 + Silent SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr5:140590315C>T ENST00000239450.2 + 1 2025 c.1836C>T c.(1834-1836)ccC>ccT p.P612P PCDHB12_ENST00000541609.1_Silent_p.P275P NM_018932.3 NP_061755.1 Q9Y5F1 PCDBC_HUMAN 612 Cadherin 6. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding p.P612P(2) NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1) 83 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CCACGGAGCCCGGGCTATTCG 0.701000 47 44 0 0 0.014410 0 0 SLC4A3 6508 broad.mit.edu 37 2 220500401 220500401 + Missense_Mutation SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr2:220500401C>T ENST00000358055.3 + 14 2491 c.1979C>T c.(1978-1980)tCt>tTt p.S660F SLC4A3_ENST00000273063.6_Missense_Mutation_p.S687F|SLC4A3_ENST00000317151.3_Missense_Mutation_p.S660F|SLC4A3_ENST00000373762.3_Missense_Mutation_p.S687F|SLC4A3_ENST00000373760.2_Missense_Mutation_p.S660F P48751 B3A3_HUMAN solute carrier family 4 (anion exchanger), member 3 660 bicarbonate transport integral to plasma membrane|membrane fraction inorganic anion exchanger activity breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2) 51 Renal(207;0.0183) Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) CCAGAACTGTCTTTGGAGTTG 0.637000 9 11 0 0 0.004482 0 0 L3MBTL2 83746 broad.mit.edu 37 22 41620754 41620754 + Silent SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr22:41620754C>T ENST00000216237.5 + 10 1358 c.1200C>T c.(1198-1200)caC>caT p.H400H NM_031488.4 NP_113676.2 Q969R5 LMBL2_HUMAN l(3)mbt-like 2 (Drosophila) 400 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus methylated histone residue binding|transcription corepressor activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 TGGCCCATCACCCCACCTTCC 0.572000 19 22 0 0 0.002780 0 0 PTPRN 5798 broad.mit.edu 37 2 220167369 220167369 + Silent SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr2:220167369G>A ENST00000295718.2 - 5 808 c.568C>T c.(568-570)Ctg>Ttg p.L190L PTPRN_ENST00000409251.3_Silent_p.L190L|PTPRN_ENST00000423636.2_Silent_p.L100L|AC114803.3_ENST00000417355.1_RNA NM_002846.3 NP_002837.1 Q16849 PTPRN_HUMAN protein tyrosine phosphatase, receptor type, N 190 response to reactive oxygen species integral to plasma membrane transmembrane receptor protein tyrosine phosphatase activity breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 Renal(207;0.0474) Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875) TGTGGGGGCAGCAGCAGGTGC 0.627000 30 33 0 0 0.003755 0 0 CTNND2 1501 broad.mit.edu 37 5 11236916 11236916 + Missense_Mutation SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr5:11236916G>A ENST00000304623.8 - 10 1837 c.1648C>T c.(1648-1650)Ccg>Tcg p.P550S CTNND2_ENST00000458100.2_Missense_Mutation_p.P117S|CTNND2_ENST00000503622.1_Missense_Mutation_p.P213S|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000511377.1_Missense_Mutation_p.P459S|CTNND2_ENST00000359640.2_Missense_Mutation_p.P550S NM_001332.2 NP_001323.1 Q9UQB3 CTND2_HUMAN catenin (cadherin-associated protein), delta 2 550 multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent adherens junction|cytoplasm|nucleus protein binding NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2) 136 GGCAGTTCCGGGTCTCTCCAT 0.478000 34 11 0 0 0.006230 0 0 OR6M1 390261 broad.mit.edu 37 11 123676143 123676143 + Silent SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr11:123676143G>A ENST00000309154.2 - 1 952 c.915C>T c.(913-915)atC>atT p.I305I NM_001005325.1 NP_001005325.1 Q8NGM8 OR6M1_HUMAN olfactory receptor, family 6, subfamily M, member 1 305 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(2)|skin(5)|urinary_tract(1) 29 Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.028) TCAAGGTCATGATTCTGTTCA 0.388000 24 57 0 0 0.004656 0 0 SESN1 27244 broad.mit.edu 37 6 109319926 109319926 + Silent SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr6:109319926G>A ENST00000436639.2 - 5 1507 c.762C>T c.(760-762)tcC>tcT p.S254S SESN1_ENST00000302071.2_Silent_p.S129S|SESN1_ENST00000356644.7_Silent_p.S195S|RP11-787I22.3_ENST00000605885.1_RNA NM_014454.2 NP_055269.1 Q9Y6P5 SESN1_HUMAN sestrin 1 195 cell cycle arrest|negative regulation of cell proliferation|response to DNA damage stimulus nucleus cervix(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|urinary_tract(1) 10 all_cancers(87;6.45e-05)|Acute lymphoblastic leukemia(125;3.55e-10)|all_hematologic(75;1.68e-07)|all_epithelial(87;0.0106)|Colorectal(196;0.0637) Epithelial(106;0.0014)|BRCA - Breast invasive adenocarcinoma(108;0.00146)|all cancers(137;0.0031)|OV - Ovarian serous cystadenocarcinoma(136;0.0117) ATTCCGCAAGGGACCAGCTGT 0.388000 35 37 0 0 0.004289 0 0 ALPK1 80216 broad.mit.edu 37 4 113362185 113362185 + Silent SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr4:113362185C>T ENST00000458497.1 + 15 3930 c.3651C>T c.(3649-3651)ttC>ttT p.F1217F ALPK1_ENST00000504176.2_Silent_p.F1139F|ALPK1_ENST00000177648.9_Silent_p.F1217F NM_001102406.1|NM_025144.3 NP_001095876.1|NP_079420.3 Q96QP1 ALPK1_HUMAN alpha-kinase 1 1217 Alpha-type protein kinase. ATP binding|protein serine/threonine kinase activity NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1) 53 Ovarian(17;0.0446)|Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.00325) TTTTTTACTTCTTTAATAACC 0.383000 53 54 0 0 0.014410 0 0 PARP4 143 broad.mit.edu 37 13 25008897 25008897 + Missense_Mutation SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr13:25008897G>A ENST00000381989.3 - 31 4487 c.4382C>T c.(4381-4383)cCt>cTt p.P1461L NM_006437.3 NP_006428.2 Q9UKK3 PARP4_HUMAN poly (ADP-ribose) polymerase family, member 4 1461 cell death|DNA repair|inflammatory response|protein ADP-ribosylation|response to drug|transport cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule DNA binding|enzyme binding|NAD+ ADP-ribosyltransferase activity autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 63 all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052) all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195) AAAATGAAAAGGAGAGGAAGC 0.517000 5 20 0 0 0.000602 0 0 CRH 1392 broad.mit.edu 37 8 67089270 67089270 + Missense_Mutation SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr8:67089270G>A ENST00000276571.3 - 2 889 c.443C>T c.(442-444)cCg>cTg p.P148L NM_000756.2 NP_000747.1 P06850 CRF_HUMAN corticotropin releasing hormone 148 female pregnancy|negative regulation of circadian sleep/wake cycle, REM sleep|parturition|positive regulation of circadian sleep/wake cycle, wakefulness|positive regulation of cortisol secretion|signal transduction|synaptic transmission extracellular region|soluble fraction neuropeptide hormone activity breast(1)|endometrium(1)|lung(2)|urinary_tract(1) 5 all_cancers(86;2.58e-06)|all_epithelial(80;6.27e-09)|all_lung(136;0.000414)|Lung NSC(129;0.0011) Epithelial(68;0.0136)|all cancers(69;0.0507)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904) Corticotropin(DB01285) TTCTCTCTCCGGTGCCTCCTG 0.677000 OREG0018805 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 6 0 0 0.009096 0 0 HAO2 51179 broad.mit.edu 37 1 119929351 119929351 + Missense_Mutation SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr1:119929351G>A ENST00000361035.4 + 6 990 c.707G>A c.(706-708)gGg>gAg p.G236E HAO2_ENST00000325945.3_Missense_Mutation_p.G223E NM_001005783.1 NP_001005783.1 Q9NYQ3 HAOX2_HUMAN hydroxyacid oxidase 2 (long chain) 223 FMN hydroxy acid dehydrogenase. fatty acid alpha-oxidation peroxisome (S)-2-hydroxy-acid oxidase activity breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(2) 30 all_neural(166;0.187) all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284) Lung(183;0.0155)|LUSC - Lung squamous cell carcinoma(189;0.0856) ATCCTGAAAGGGATTTTGACA 0.458000 88 9 0 0 0.014410 0 0 CAMK1D 57118 broad.mit.edu 37 10 12708735 12708735 + Splice_Site SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr10:12708735G>A ENST00000378847.3 + 3 562 c.224_splice c.e3-1 p.K75_splice CAMK1D_ENST00000487696.1_3'UTR|CAMK1D_ENST00000378845.1_Splice_Site_p.K75_splice NM_153498.2 NP_705718.1 Q8IU85 KCC1D_HUMAN calcium/calmodulin-dependent protein kinase ID 75 Protein kinase. calcium- and calmodulin-dependent protein kinase complex|cytoplasm|nucleus ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1) 16 GBM - Glioblastoma multiforme(1;3.16e-05) TTTTTTTCAGGATTAAGCATG 0.343000 159 211 0 0 0.014410 0 0 EPHB3 2049 broad.mit.edu 37 3 184298381 184298381 + Silent SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr3:184298381C>T ENST00000330394.2 + 12 2816 c.2364C>T c.(2362-2364)tcC>tcT p.S788S EIF2B5_ENST00000444495.1_Intron NM_004443.3 NP_004434.2 P54753 EPHB3_HUMAN EPH receptor B3 788 Protein kinase. integral to plasma membrane ATP binding|ephrin receptor activity breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 51 all_cancers(143;1.89e-10)|Ovarian(172;0.0339) Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22) ATGACCCCTCCGATCCTACCT 0.647000 24 41 0 0 0.003330 0 0 OPN1MW2 728458 broad.mit.edu 37 X 153496229 153496229 + Silent SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chrX:153496229C>T ENST00000369929.4 + 5 1017 c.957C>T c.(955-957)ccC>ccT p.P319P NM_001048181.2 NP_001041646.1 opsin 1 (cone pigments), medium-wave-sensitive 2 haematopoietic_and_lymphoid_tissue(1)|lung(1)|prostate(1)|stomach(2)|urinary_tract(1) 6 all_cancers(53;1.83e-16)|all_epithelial(53;2.73e-10)|all_lung(58;6.39e-07)|Lung NSC(58;8.37e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) TCTACAACCCCGTTATCTATG 0.547000 49 83 0 0 0.014410 0 0 SAMD9L 219285 broad.mit.edu 37 7 92762825 92762825 + Silent SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr7:92762825G>A ENST00000318238.4 - 5 3676 c.2460C>T c.(2458-2460)tcC>tcT p.S820S SAMD9L_ENST00000437805.1_Silent_p.S820S|SAMD9L_ENST00000411955.1_Silent_p.S820S NM_152703.2 NP_689916.2 Q8IVG5 SAM9L_HUMAN sterile alpha motif domain containing 9-like 820 central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 88 all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989) STAD - Stomach adenocarcinoma(171;0.000302) CTGCTAAAACGGAATGGATGG 0.378000 33 43 0 0 0.009535 0 0 INPP5D 3635 broad.mit.edu 37 2 233995348 233995348 + Missense_Mutation SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr2:233995348G>A ENST00000359570.5 + 5 655 c.655G>A c.(655-657)Gag>Aag p.E219K INPP5D_ENST00000538935.1_Missense_Mutation_p.E219K|INPP5D_ENST00000474278.1_3'UTR Q92835 SHIP1_HUMAN inositol polyphosphate-5-phosphatase, 145kDa 219 apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway cytosol inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding central_nervous_system(1)|ovary(1) 2 Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843) Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185) GCTCTGCAAGGAGCTCTATGG 0.577000 23 24 0 0 0.003954 0 0 CNTN5 53942 broad.mit.edu 37 11 99827605 99827605 + Silent SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr11:99827605C>T ENST00000524871.1 + 8 1031 c.741C>T c.(739-741)atC>atT p.I247I CNTN5_ENST00000418526.2_Silent_p.I173I|CNTN5_ENST00000279463.3_Silent_p.I247I|CNTN5_ENST00000528682.1_Silent_p.I247I|CNTN5_ENST00000527185.1_Silent_p.I247I NM_014361.3 NP_055176.1 O94779 CNTN5_HUMAN contactin 5 247 Ig-like C2-type 2. cell adhesion anchored to membrane|plasma membrane protein binding NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 81 all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219) BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196) GGCGGTTCATCTCCCAGGAGA 0.428000 22 36 0 0 0.014323 0 0 SLC6A4 6532 broad.mit.edu 37 17 28537620 28537620 + Silent SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr17:28537620G>A ENST00000401766.2 - 10 1874 c.1362C>T c.(1360-1362)ttC>ttT p.F454F SLC6A4_ENST00000261707.3_Silent_p.F454F P31645 SC6A4_HUMAN solute carrier family 6 (neurotransmitter transporter), member 4 454 response to toxin|serotonin uptake|thalamus development cytosol|endomembrane system|endosome membrane|membrane raft actin filament binding|Rab GTPase binding|serotonin transmembrane transporter activity|serotonin:sodium symporter activity breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(4) 25 Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Doxepin(DB01142)|Duloxetine(DB00476)|Escitalopram(DB01175)|Fluoxetine(DB00472)|Fluvoxamine(DB00176)|Imipramine(DB00458)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Minaprine(DB00805)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phentermine(DB00191)|Protriptyline(DB00344)|Sertraline(DB01104)|Sibutramine(DB01105)|Tegaserod(DB01079)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)|Zimelidine(DB04832) AGACGTGTGGGAACTCATCCA 0.592000 46 53 0 0 0.014410 0 0 SMCHD1 23347 broad.mit.edu 37 18 2718389 2718389 + Silent SNP A A T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr18:2718389A>T ENST00000320876.6 + 19 2753 c.2415A>T c.(2413-2415)gcA>gcT p.A805A SMCHD1_ENST00000261598.8_Silent_p.A805A|RP11-703M24.5_ENST00000583546.1_RNA NM_015295.2 NP_056110.2 A6NHR9 SMHD1_HUMAN structural maintenance of chromosomes flexible hinge domain containing 1 805 chromosome organization ATP binding NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1) 45 ACACTTATGCAGGAAGACCAC 0.289000 28 36 0 0 0.009535 0 0 C3orf17 25871 broad.mit.edu 37 3 112729989 112729989 + Silent SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr3:112729989G>A ENST00000314400.5 - 6 1007 c.816C>T c.(814-816)acC>acT p.T272T C3orf17_ENST00000393857.2_Silent_p.T136T|C3orf17_ENST00000472762.1_5'UTR|C3orf17_ENST00000383675.2_Silent_p.T202T NM_015412.3 NP_056227.2 Q6NW34 CC017_HUMAN chromosome 3 open reading frame 17 272 integral to membrane central_nervous_system(1)|endometrium(1)|kidney(2)|lung(6)|prostate(2)|skin(1) 13 TTCCAAGCAAGGTTTCTTCAC 0.323000 15 23 0 0 0.002450 0 0 REG3A 5068 broad.mit.edu 37 2 79384420 79384420 + Splice_Site SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr2:79384420C>T ENST00000393878.1 - 5 715 c.e5-1 REG3A_ENST00000409839.3_Splice_Site|REG3A_ENST00000305165.2_Splice_Site NM_138938.2 NP_620355.1 Q06141 REG3A_HUMAN regenerating islet-derived 3 alpha acute-phase response|cell proliferation|heterophilic cell-cell adhesion|multicellular organismal development cytoplasm|extracellular space|soluble fraction sugar binding breast(2)|large_intestine(4)|lung(41)|prostate(2)|skin(1) 50 CTCAGAAATGCTGGAGAGACA 0.468000 20 26 0 0 0.010504 0 0 VDAC2 7417 broad.mit.edu 37 10 76990717 76990717 + Silent SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr10:76990717G>A ENST00000535553.1 + 11 1094 c.738G>A c.(736-738)aaG>aaA p.K246K VDAC2_ENST00000313132.4_Silent_p.K300K|VDAC2_ENST00000543351.1_Silent_p.K285K|VDAC2_ENST00000332211.6_Silent_p.K285K P45880 VDAC2_HUMAN voltage-dependent anion channel 2 285 mitochondrial nucleoid|mitochondrial outer membrane|pore complex nucleotide binding|porin activity|protein binding|voltage-gated anion channel activity breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(1)|ovary(1)|pancreas(2)|prostate(1)|urinary_tract(1) 10 all_cancers(46;0.0642)|all_epithelial(25;0.00604)|Prostate(51;0.0112)|Ovarian(15;0.183) Dihydroxyaluminium(DB01375) GAGGCCACAAGGTTGGGCTCG 0.428000 OREG0020276 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 13 23 0 0 0.001855 0 0 MGAT3 4248 broad.mit.edu 37 22 39884257 39884257 + Missense_Mutation SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr22:39884257C>T ENST00000341184.6 + 2 1120 c.905C>T c.(904-906)tCg>tTg p.S302L NM_001098270.1|NM_002409.4 NP_001091740.1|NP_002400.3 Q09327 MGAT3_HUMAN mannosyl (beta-1,4-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase 302 post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|prostate(1)|skin(1) 24 Melanoma(58;0.04) GACGGCGTCTCGCGGCTGCGC 0.662000 56 53 0 0 0.014410 0 0 KDM5A 5927 broad.mit.edu 37 12 416839 416839 + Silent SNP G G A rs61750262 TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr12:416839G>A ENST00000399788.2 - 23 4073 c.3711C>T c.(3709-3711)ccC>ccT p.P1237P KDM5A_ENST00000382815.4_Silent_p.P1237P NM_001042603.1 NP_001036068.1 P29375 KDM5A_HUMAN lysine (K)-specific demethylase 5A 1237 chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter cytoplasm|nucleolus DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2) 77 GCAACCGTACGGGCAACTTCT 0.507000 T NUP98 AML 31 33 0 0 0.013726 0 0 CFTR 1080 broad.mit.edu 37 7 117251758 117251758 + Missense_Mutation SNP A A G TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr7:117251758A>G ENST00000003084.6 + 20 3395 c.3263A>G c.(3262-3264)aAc>aGc p.N1088S AC000111.6_ENST00000456270.1_RNA|CFTR_ENST00000454343.1_Missense_Mutation_p.N1027S NM_000492.3 NP_000483.3 P13569 CFTR_HUMAN cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) 1088 ABC transmembrane type-1 2. respiratory gaseous exchange apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9) 69 Lung NSC(10;0.00148)|all_lung(10;0.00171) STAD - Stomach adenocarcinoma(10;0.000534) Bumetanide(DB00887)|Glibenclamide(DB01016) CATACTGCCAACTGGTTCTTG 0.403000 Cystic Fibrosis 18 17 0 0 0.006122 0 0 PRKACG 5568 broad.mit.edu 37 9 71628256 71628256 + Silent SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr9:71628256G>A ENST00000377276.2 - 1 783 c.753C>T c.(751-753)atC>atT p.I251I NM_002732.3 NP_002723.2 P22612 KAPCG_HUMAN protein kinase, cAMP-dependent, catalytic, gamma 251 Protein kinase. I -> N. activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|gluconeogenesis|intracellular protein kinase cascade|male gonad development|nerve growth factor receptor signaling pathway|regulation of insulin secretion|spermatogenesis|transmembrane transport|triglyceride catabolic process|water transport cytosol|nucleoplasm ATP binding|cAMP-dependent protein kinase activity central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 22 TCCCAGAGACGATCTTCTCGT 0.612000 36 35 0 0 0.005524 0 0 SCN3A 6328 broad.mit.edu 37 2 165948804 165948804 + Nonsense_Mutation SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr2:165948804C>T ENST00000360093.3 - 27 5258 c.4767G>A c.(4765-4767)tgG>tgA p.W1589* SCN3A_ENST00000540861.1_Nonsense_Mutation_p.W72*|SCN3A_ENST00000409101.3_Nonsense_Mutation_p.W1540*|SCN3A_ENST00000465043.1_5'UTR|SCN3A_ENST00000283254.7_Nonsense_Mutation_p.W1589* NM_001081677.1 NP_001075146.1 Q9NY46 SCN3A_HUMAN sodium channel, voltage-gated, type III, alpha subunit 1589 voltage-gated sodium channel complex voltage-gated sodium channel activity NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3) 120 Lamotrigine(DB00555) CAAAGATGTTCCAGCCTATAG 0.433000 20 37 0 0 0.007413 0 0 RPA4 29935 broad.mit.edu 37 X 96139470 96139470 + Missense_Mutation SNP T T A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chrX:96139470T>A ENST00000373040.3 + 1 564 c.161T>A c.(160-162)cTt>cAt p.L54H DIAPH2_ENST00000324765.8_Intron|DIAPH2_ENST00000373061.3_Intron|DIAPH2_ENST00000355827.4_Intron|DIAPH2_ENST00000373049.4_Intron|DIAPH2_ENST00000373054.4_Intron NM_013347.4 NP_037479.1 Q13156 RFA4_HUMAN replication protein A4, 30kDa 54 DNA damage checkpoint|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair DNA replication factor A complex|nucleoplasm single-stranded DNA binding endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1) 13 GTGAACCAGCTTCTCAGCTCT 0.493000 Other identified genes with known or suspected DNA repair function 34 3 0 0 0.005524 0 0 FOXC2 2303 broad.mit.edu 37 16 86601502 86601502 + Silent SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr16:86601502C>T ENST00000320354.4 + 1 646 c.561C>T c.(559-561)ccC>ccT p.P187P NM_005251.2 NP_005242.1 Q99958 FOXC2_HUMAN forkhead box C2 (MFH-1, mesenchyme forkhead 1) 187 anti-apoptosis|artery morphogenesis|blood vessel remodeling|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|embryonic viscerocranium morphogenesis|insulin receptor signaling pathway|lymphangiogenesis|metanephros development|negative regulation of transcription from RNA polymerase II promoter|neural crest cell fate commitment|Notch signaling pathway|ossification|paraxial mesodermal cell fate commitment|patterning of blood vessels|positive regulation of cell adhesion mediated by integrin|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of vascular wound healing|regulation of blood vessel size|regulation of organ growth|regulation of sequence-specific DNA binding transcription factor activity|somitogenesis|ureteric bud development|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis transcription factor complex chromatin DNA binding|DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding|transcription regulatory region DNA binding breast(1)|cervix(1)|endometrium(2)|kidney(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1) 15 AGGAGCCGCCCCCGGCGGCGT 0.697000 Late-onset Hereditary Lymphedema 14 20 0 0 0.002450 0 0 LPHN1 22859 broad.mit.edu 37 19 14269965 14269965 + Missense_Mutation SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr19:14269965C>T ENST00000340736.6 - 12 2398 c.2101G>A c.(2101-2103)Gag>Aag p.E701K CTB-55O6.12_ENST00000588387.1_RNA|LPHN1_ENST00000361434.3_Missense_Mutation_p.E696K|CTB-55O6.12_ENST00000592086.1_RNA NM_001008701.2 NP_001008701.1 O94910 LPHN1_HUMAN latrophilin 1 701 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|sugar binding central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 CTCGGGTACTCCTCCTGGGGG 0.612000 36 59 0 0 0.003271 0 0 IL1R1 3554 broad.mit.edu 37 2 102793102 102793102 + Nonsense_Mutation SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr2:102793102G>A ENST00000410023.1 + 12 1911 c.1593G>A c.(1591-1593)tgG>tgA p.W531* IL1R1_ENST00000409929.1_Nonsense_Mutation_p.W500*|AC007271.3_ENST00000428188.1_RNA|IL1R1_ENST00000409589.1_Intron|IL1R1_ENST00000424272.1_3'UTR|IL1R1_ENST00000233946.3_Nonsense_Mutation_p.W531* P14778 IL1R1_HUMAN interleukin 1 receptor, type I 531 TIR. innate immune response integral to plasma membrane interleukin-1, Type I, activating receptor activity|platelet-derived growth factor receptor binding breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|prostate(2)|skin(3) 19 Anakinra(DB00026) CAAGGTTCTGGAAGAATGTCA 0.483000 20 26 0 0 0.007413 0 0 OR10G7 390265 broad.mit.edu 37 11 123908965 123908965 + Silent SNP A A C TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr11:123908965A>C ENST00000330487.5 - 1 752 c.744T>G c.(742-744)ctT>ctG p.L248L NM_001004463.1 NP_001004463.1 Q8NGN6 O10G7_HUMAN olfactory receptor, family 10, subfamily G, member 7 248 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(6)|lung(20)|ovary(2)|prostate(2)|stomach(3)|urinary_tract(1) 47 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521) CAAAGAAGCAAAGGACCACGA 0.562000 21 32 0 0 0.014323 0 0 STK33 65975 broad.mit.edu 37 11 8486289 8486289 + Silent SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr11:8486289C>T ENST00000447869.1 - 3 1338 c.420G>A c.(418-420)acG>acA p.T140T STK33_ENST00000396672.1_Silent_p.T140T|STK33_ENST00000396673.1_Silent_p.T140T|STK33_ENST00000534493.1_Silent_p.T99T|STK33_ENST00000358872.3_5'UTR|STK33_ENST00000315204.1_Silent_p.T140T Q9BYT3 STK33_HUMAN serine/threonine kinase 33 140 Protein kinase. Golgi apparatus|nucleus|perinuclear region of cytoplasm ATP binding|protein serine/threonine kinase activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|skin(3) 23 Epithelial(150;2.13e-06)|BRCA - Breast invasive adenocarcinoma(625;0.239) TTGCCCACTTCGTTTCTGTTT 0.413000 32 40 0 0 0.003271 0 0 PARD3 56288 broad.mit.edu 37 10 34606232 34606232 + Silent SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr10:34606232C>T ENST00000374789.3 - 20 3202 c.2877G>A c.(2875-2877)ggG>ggA p.G959G PARD3_ENST00000374788.3_Silent_p.G956G|PARD3_ENST00000374790.3_Silent_p.G899G|PARD3_ENST00000545693.1_Silent_p.G943G|PARD3_ENST00000374776.1_Silent_p.G913G|PARD3_ENST00000544292.1_Silent_p.G672G|PARD3_ENST00000350537.4_Silent_p.G913G|PARD3_ENST00000374773.1_Silent_p.G926G|PARD3_ENST00000466092.1_5'UTR|PARD3_ENST00000374794.3_Silent_p.G884G|PARD3_ENST00000340077.5_Silent_p.G956G|PARD3_ENST00000346874.4_Silent_p.G959G|PARD3_ENST00000545260.1_Silent_p.G869G NM_019619.3 NP_062565.2 Q8TEW0 PARD3_HUMAN par-3 family cell polarity regulator 959 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 63 Breast(68;0.0707) CAGACTCTCTCCCTGATCTTG 0.398000 36 52 0 0 0.006999 0 0 GLB1L 79411 broad.mit.edu 37 2 220104815 220104815 + Splice_Site SNP A A T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr2:220104815A>T ENST00000295759.7 - 7 861 c.546_splice c.e7-1 p.V183_splice GLB1L_ENST00000409640.1_Intron|GLB1L_ENST00000356283.3_Intron|GLB1L_ENST00000392089.2_Splice_Site_p.V183_splice|GLB1L_ENST00000497855.1_Intron Q6UWU2 GLB1L_HUMAN galactosidase, beta 1-like 183 carbohydrate metabolic process extracellular region cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 22 all_lung(227;1.19e-05)|Lung NSC(271;2.76e-05)|Medulloblastoma(418;0.0208)|Esophageal squamous(248;0.0559) Epithelial(149;1.3e-11)|all cancers(144;2.07e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) TTCATTCTCCACCTGCCAGAG 0.542000 21 26 0 0 0.010504 0 0 SLC29A2 3177 broad.mit.edu 37 11 66133652 66133652 + Missense_Mutation SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr11:66133652G>A ENST00000311161.7 - 9 893 c.784C>T c.(784-786)Cgt>Tgt p.R262C SLC29A2_ENST00000357440.2_Silent_p.S306S|SLC29A2_ENST00000546034.1_Silent_p.S306S|SLC29A2_ENST00000544554.1_Silent_p.S306S Q14542 S29A2_HUMAN solute carrier family 29 (equilibrative nucleoside transporter), member 2 0 cell proliferation|nucleobase, nucleoside and nucleotide metabolic process basolateral plasma membrane|integral to plasma membrane|nuclear membrane|nucleolus nucleoside transmembrane transporter activity breast(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 10 CGGGGAAGACGGACAGGGTGA 0.637000 11 19 0 0 0.004990 0 0 ATRNL1 26033 broad.mit.edu 37 10 116887370 116887370 + Missense_Mutation SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr10:116887370C>T ENST00000355044.3 + 4 631 c.505C>T c.(505-507)Cct>Tct p.P169S ATRNL1_ENST00000527407.1_Missense_Mutation_p.P169S|ATRNL1_ENST00000529665.1_3'UTR NM_207303.2 NP_997186.1 Q5VV63 ATRN1_HUMAN attractin-like 1 169 CUB. integral to membrane sugar binding NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234) Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827) TTTGATAGTCCCTGAAATAAG 0.328000 12 13 0 0 0.013537 0 0 SPANXN3 139067 broad.mit.edu 37 X 142596928 142596928 + Missense_Mutation SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chrX:142596928C>T ENST00000370503.2 - 2 225 c.142G>A c.(142-144)Gaa>Aaa p.E48K GS1-256O22.5_ENST00000431432.1_RNA NM_001009609.2 NP_001009609.1 Q5MJ09 SPXN3_HUMAN SPANX family, member N3 48 endometrium(1)|large_intestine(1)|lung(9)|ovary(2)|urinary_tract(1) 14 Acute lymphoblastic leukemia(192;6.56e-05) ATTGGATATTCTGATGTTTTT 0.378000 40 3 0 0 0.008740 0 0 TIMELESS 8914 broad.mit.edu 37 12 56822793 56822793 + Missense_Mutation SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr12:56822793G>A ENST00000229201.4 - 11 1329 c.1175C>T c.(1174-1176)tCc>tTc p.S392F TIMELESS_ENST00000553532.1_Missense_Mutation_p.S393F|TIMELESS_ENST00000554616.1_Intron NM_003920.3 NP_003911.2 Q9UNS1 TIM_HUMAN timeless circadian clock 393 cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent nuclear chromatin NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1) 49 TGGCCGGAAGGAGGCAGCTCG 0.522000 27 34 0 0 0.005443 0 0 TRBV6-8 28599 broad.mit.edu 37 7 142124340 142124340 + RNA SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr7:142124340C>T ENST00000390376.2 - 0 137 ATCCATGGTTCATATCCTGGG 0.507000 30 52 0 0 0.009535 0 0 CWF19L1 55280 broad.mit.edu 37 10 102013297 102013297 + Splice_Site SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr10:102013297C>T ENST00000354105.4 - 6 591 c.e6-1 CWF19L1_ENST00000478047.1_5'UTR NM_018294.4 NP_060764.3 Q69YN2 C19L1_HUMAN CWF19-like 1, cell cycle control (S. pombe) catalytic activity p.?(1) cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|stomach(2) 17 Colorectal(252;0.117) Epithelial(162;3.78e-10)|all cancers(201;3.1e-08) CCACTTCTCCCTAGTAAACAA 0.338000 31 38 0 0 0.010818 0 0 COL21A1 81578 broad.mit.edu 37 6 55990415 55990415 + Missense_Mutation SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr6:55990415C>T ENST00000244728.5 - 14 1997 c.1600G>A c.(1600-1602)Gaa>Aaa p.E534K COL21A1_ENST00000370819.1_Missense_Mutation_p.E531K|COL21A1_ENST00000535941.1_Missense_Mutation_p.E534K NM_030820.3 NP_110447.2 Q96P44 COLA1_HUMAN collagen, type XXI, alpha 1 534 cell adhesion collagen|cytoplasm structural molecule activity breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2) 41 Lung NSC(77;0.0483) LUSC - Lung squamous cell carcinoma(124;0.181) GCACCCATTTCACCCTAAAAG 0.274000 6 6 0 0 0.001984 0 0 DYNC2H1 79659 broad.mit.edu 37 11 103057112 103057112 + Missense_Mutation SNP A A C TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr11:103057112A>C ENST00000375735.2 + 42 6919 c.6775A>C c.(6775-6777)Act>Cct p.T2259P DYNC2H1_ENST00000334267.7_Intron|DYNC2H1_ENST00000398093.3_Missense_Mutation_p.T2259P NM_001080463.1|NM_001377.2 NP_001073932.1|NP_001368.2 Q8NCM8 DYHC2_HUMAN dynein, cytoplasmic 2, heavy chain 1 2259 AAA 3 (By similarity). cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane ATP binding|ATPase activity|microtubule motor activity NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2) 33 Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348) BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785) TAACGGCTTAACTCTTCCAGT 0.418000 31 26 0 0 0.012213 0 0 BRINP1 1620 broad.mit.edu 37 9 121929941 121929941 + Silent SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr9:121929941C>T ENST00000265922.3 - 8 2168 c.1707G>A c.(1705-1707)ggG>ggA p.G569G DBC1_ENST00000482797.1_Intron NM_014618.2 NP_055433.2 O60477 DBC1_HUMAN 569 cell cycle arrest|cell death cytoplasm protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 83 CCGAATGGCTCCCGCTAAAGG 0.547000 22 31 0 0 0.012319 0 0 ST14 6768 broad.mit.edu 37 11 130060463 130060463 + Missense_Mutation SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr11:130060463G>A ENST00000278742.5 + 7 1167 c.749G>A c.(748-750)gGg>gAg p.G250E NM_021978.3 NP_068813.1 Q9Y5Y6 ST14_HUMAN suppression of tumorigenicity 14 (colon carcinoma) 250 CUB 1. proteolysis integral to plasma membrane serine-type endopeptidase activity central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|pancreas(2)|prostate(1)|skin(3) 32 all_hematologic(175;0.0429) Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228) Urokinase(DB00013) GCCCTGCGGGGGGACGCCGAC 0.697000 18 18 0 0 0.010504 0 0 NIT2 56954 broad.mit.edu 37 3 100073618 100073618 + Missense_Mutation SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr3:100073618G>A ENST00000394140.3 + 9 777 c.686G>A c.(685-687)gGg>gAg p.G229E NM_020202.4 NP_064587.1 Q9NQR4 NIT2_HUMAN nitrilase family, member 2 229 CN hydrolase. nitrogen compound metabolic process omega-amidase activity breast(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(1) 17 TTTTTCAGGGGGGAGGTTCTA 0.453000 26 29 0 0 0.004656 0 0 AHNAK 79026 broad.mit.edu 37 11 62294664 62294664 + Missense_Mutation SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr11:62294664G>A ENST00000378024.4 - 5 7499 c.7225C>T c.(7225-7227)Ccc>Tcc p.P2409S AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron NM_001620.1 NP_001611.1 Q09666 AHNK_HUMAN AHNAK nucleoprotein 2409 nervous system development nucleus protein binding NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 268 Melanoma(852;0.155) TCCAATTTGGGAACATCTACA 0.483000 17 44 0 0 0.004990 0 0 STK36 27148 broad.mit.edu 37 2 219562684 219562684 + Missense_Mutation SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr2:219562684C>T ENST00000295709.3 + 25 3296 c.3017C>T c.(3016-3018)gCc>gTc p.A1006V STK36_ENST00000392105.3_Missense_Mutation_p.A985V|STK36_ENST00000440309.1_Missense_Mutation_p.A1006V|STK36_ENST00000392106.2_Missense_Mutation_p.A985V NM_015690.4 NP_056505.2 Q9NRP7 STK36_HUMAN serine/threonine kinase 36 1006 cilium assembly|positive regulation of hh target transcription factor activity|positive regulation of smoothened signaling pathway|post-embryonic development aggresome|cytoplasm|focal adhesion|intermediate filament cytoskeleton|nucleus ATP binding|protein serine/threonine kinase activity|transcription factor binding biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(20)|ovary(4)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 52 Renal(207;0.0915) Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984) GGTGTCTTGGCCGACCTCAGG 0.547000 52 58 0 0 0.014410 0 0 CD5L 922 broad.mit.edu 37 1 157803038 157803038 + Missense_Mutation SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr1:157803038C>T ENST00000368174.4 - 5 1079 c.983G>A c.(982-984)aGa>aAa p.R328K NM_005894.2 NP_005885.1 O43866 CD5L_HUMAN CD5 molecule-like 328 SRCR 3. apoptosis|cellular defense response extracellular space|membrane scavenger receptor activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1) 52 all_hematologic(112;0.0378) LUSC - Lung squamous cell carcinoma(543;0.24) CCCCCAAAATCTGTGCTGGCA 0.562000 50 44 0 0 0.014410 0 0 TRDV1 28518 broad.mit.edu 37 14 22564685 22564685 + RNA SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr14:22564685G>A ENST00000390452.2 + 0 154 CTGCCTGTATGAAACAAGTTG 0.438000 69 81 0 0 0.014410 0 0 PCDHGA9 56107 broad.mit.edu 37 5 140782949 140782949 + Missense_Mutation SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr5:140782949G>A ENST00000573521.1 + 1 430 c.430G>A c.(430-432)Gaa>Aaa p.E144K PCDHGA8_ENST00000398604.2_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron NM_018921.2|NM_032089.1 NP_061744.1|NP_114478.1 endometrium(1)|kidney(1)|lung(3) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AAAAATTAACGAAATCGCGGT 0.473000 43 15 0 0 0.007835 0 0 TCERG1 10915 broad.mit.edu 37 5 145878238 145878238 + Missense_Mutation SNP A A G TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr5:145878238A>G ENST00000296702.5 + 16 2409 c.2371A>G c.(2371-2373)Aga>Gga p.R791G TCERG1_ENST00000394421.2_Missense_Mutation_p.R770G NM_006706.3 NP_006697.2 O14776 TCRG1_HUMAN transcription elongation regulator 1 791 regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nucleus protein binding|transcription coactivator activity breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1) 46 Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) TTCGAAGACCAGAGGTGAGAA 0.403000 14 4 0 0 0.004990 0 0 NFKB1 4790 broad.mit.edu 37 4 103537644 103537644 + Missense_Mutation SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr4:103537644C>T ENST00000226574.4 + 24 3270 c.2803C>T c.(2803-2805)Cgc>Tgc p.R935C NFKB1_ENST00000394820.4_Missense_Mutation_p.R934C|NFKB1_ENST00000600343.1_Missense_Mutation_p.R754C|NFKB1_ENST00000505458.1_Missense_Mutation_p.R934C NM_001165412.1|NM_003998.3 NP_001158884.1|NP_003989.2 P19838 NFKB1_HUMAN nuclear factor of kappa light polypeptide gene enhancer in B-cells 1 934 Interaction with CFLAR. anti-apoptosis|apoptosis|cellular response to mechanical stimulus|inflammatory response|innate immune response|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of calcidiol 1-monooxygenase activity|nerve growth factor receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter cytosol|I-kappaB/NF-kappaB complex|mitochondrion|nucleoplasm protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding biliary_tract(1)|breast(4)|endometrium(2)|large_intestine(6)|lung(7)|ovary(2)|skin(4)|upper_aerodigestive_tract(1) 27 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;6.59e-08) Dexamethasone(DB01234)|Pranlukast(DB01411)|Thalidomide(DB01041) GACATCCTTCCGCAAACTCAG 0.542000 46 63 0 0 0.014410 0 0 OR10A6 390093 broad.mit.edu 37 11 7950066 7950066 + Silent SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr11:7950066G>A ENST00000309838.2 - 1 143 c.144C>T c.(142-144)atC>atT p.I48I NM_001004461.1 NP_001004461.1 Q8NH74 O10A6_HUMAN olfactory receptor, family 10, subfamily A, member 6 48 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 22 Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189) CTAGGGAGACGATGACTATAA 0.468000 43 45 0 0 0.009718 0 0 MMP26 56547 broad.mit.edu 37 11 5012670 5012670 + Missense_Mutation SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr11:5012670G>A ENST00000380390.1 + 5 755 c.539G>A c.(538-540)gGa>gAa p.G180E MMP26_ENST00000300762.1_Missense_Mutation_p.G180E Q9NRE1 MMP26_HUMAN matrix metallopeptidase 26 180 collagen catabolic process|proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding p.G180E(1) breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(3)|stomach(1) 22 Medulloblastoma(188;0.0025)|Breast(177;0.0204)|all_neural(188;0.0227) Epithelial(150;1.33e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0287)|LUSC - Lung squamous cell carcinoma(625;0.191) CCAAATTCTGGAAATCCTGGA 0.473000 61 105 0 0 0.014410 0 0 OIT3 170392 broad.mit.edu 37 10 74658754 74658754 + Missense_Mutation SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr10:74658754C>T ENST00000334011.5 + 2 612 c.394C>T c.(394-396)Cgt>Tgt p.R132C NM_152635.1 NP_689848.1 Q8WWZ8 OIT3_HUMAN oncoprotein induced transcript 3 132 nuclear envelope calcium ion binding autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2) 35 Prostate(51;0.0198) CTATGTGTATCGTCTGACCAA 0.547000 32 47 0 0 0.006999 0 0 TSPAN13 27075 broad.mit.edu 37 7 16823044 16823044 + Silent SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr7:16823044C>T ENST00000262067.4 + 6 976 c.543C>T c.(541-543)atC>atT p.I181I NM_014399.3 NP_055214.1 O95857 TSN13_HUMAN tetraspanin 13 181 integral to plasma membrane|membrane fraction autonomic_ganglia(1)|endometrium(1)|large_intestine(1)|ovary(1)|prostate(1)|skin(1)|stomach(1) 7 Lung NSC(10;0.0494)|all_lung(11;0.109) UCEC - Uterine corpus endometrioid carcinoma (126;0.188) CATTCCAGATCCTGGGTGTTT 0.373000 36 48 0 0 0.003271 0 0 FOLH1B 219595 broad.mit.edu 37 11 89421805 89421805 + RNA SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr11:89421805G>A ENST00000532352.1 + 0 1475 Q9HBA9 FOH1B_HUMAN folate hydrolase 1B proteolysis cytoplasm dipeptidase activity|metal ion binding|metallopeptidase activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2) 48 CAACGACTTGGAATTGCTTCA 0.299000 60 67 0 0 0.014410 0 0 LRRC4C 57689 broad.mit.edu 37 11 40137715 40137715 + Missense_Mutation SNP C C T rs141998335 TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr11:40137715C>T ENST00000278198.2 - 2 2091 c.128G>A c.(127-129)cGg>cAg p.R43Q LRRC4C_ENST00000527150.1_Missense_Mutation_p.R43Q|LRRC4C_ENST00000528697.1_Missense_Mutation_p.R43Q|LRRC4C_ENST00000530763.1_Missense_Mutation_p.R43Q Q9HCJ2 LRC4C_HUMAN leucine rich repeat containing 4C 43 regulation of axonogenesis integral to membrane protein binding NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 86 all_lung(304;0.0575)|Lung NSC(402;0.138) GGTCTGAGCCCGCACCAGACC 0.547000 18 12 0 0 0.006122 0 0 GNL1 2794 broad.mit.edu 37 6 30515241 30515241 + Missense_Mutation SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr6:30515241G>A ENST00000376621.3 - 9 2136 c.1166C>T c.(1165-1167)tCc>tTc p.S389F NM_005275.3 NP_005266.2 P36915 GNL1_HUMAN guanine nucleotide binding protein-like 1 389 G. response to DNA damage stimulus|signal transduction|T cell mediated immunity extracellular space|intracellular GTP binding|structural molecule activity cervix(2)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 25 CGGGGTTCTGGAGACACTCAC 0.527000 135 16 0 0 0.014410 0 0 MIR197 406974 broad.mit.edu 37 1 110141570 110141570 + RNA SNP C C A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr1:110141570C>A ENST00000384976.2 + 0 56 NR_029583.1 CCTTCACCACCTTCTCCACCC 0.567000 33 47 8.4185e-14 8.96574e-14 0.012213 1 0 NLRP5 126206 broad.mit.edu 37 19 56515139 56515139 + Silent SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr19:56515139C>T ENST00000390649.3 + 2 120 c.120C>T c.(118-120)ttC>ttT p.F40F NM_153447.4 NP_703148.4 P59047 NALP5_HUMAN NLR family, pyrin domain containing 5 40 mitochondrion|nucleolus ATP binding breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2) 25 Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0326) ATCCACTTTTCCCCCAAAACC 0.438000 45 58 0 0 0.013114 0 0 FAT3 120114 broad.mit.edu 37 11 92523341 92523341 + Missense_Mutation SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr11:92523341G>A ENST00000298047.6 + 7 4585 c.4568G>A c.(4567-4569)aGg>aAg p.R1523K FAT3_ENST00000409404.2_Missense_Mutation_p.R1523K|FAT3_ENST00000525166.1_Missense_Mutation_p.R1373K Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 1523 Cadherin 14. 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) ACTGCCGAGAGGCTGGACCAT 0.498000 TCGA Ovarian(4;0.039) 157 295 0 0 0.014410 0 0 PRF1 5551 broad.mit.edu 37 10 72358252 72358252 + Missense_Mutation SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr10:72358252G>A ENST00000441259.1 - 3 1385 c.1225C>T c.(1225-1227)Cct>Tct p.P409S PRF1_ENST00000373209.2_Missense_Mutation_p.P409S NM_001083116.1|NM_005041.4 NP_001076585.1|NP_005032.2 P14222 PERF_HUMAN perforin 1 (pore forming protein) 409 apoptosis|cellular defense response|cytolysis|defense response to tumor cell|defense response to virus|immune response to tumor cell|protein homooligomerization cytolytic granule|endosome lumen|extracellular region|integral to membrane|plasma membrane calcium ion binding|protein binding|wide pore channel activity breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(3)|urinary_tract(3) 23 CTCTGCCGAGGGCAGCAGTCC 0.667000 M """various leukaemia, lymphoma""" Type 2 familial hemophagocytic lymphohistiocytosis Familial Hemophagocytic Lymphohistiocytosis 14 19 0 0 0.001855 0 0 SIGLEC12 89858 broad.mit.edu 37 19 51995067 51995067 + Missense_Mutation SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr19:51995067G>A ENST00000291707.3 - 8 1671 c.1616C>T c.(1615-1617)tCc>tTc p.S539F SIGLEC12_ENST00000598614.1_Missense_Mutation_p.S421F NM_053003.2 NP_443729.1 Q96PQ1 SIG12_HUMAN sialic acid binding Ig-like lectin 12 (gene/pseudogene) 539 cell adhesion integral to membrane sugar binding NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2) 61 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102) ATCTGCCGGGGATTCAATCAG 0.612000 25 20 0 0 0.004656 0 0 MUC16 94025 broad.mit.edu 37 19 9089658 9089658 + Silent SNP C C T rs147920442 by1000genomes TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr19:9089658C>T ENST00000397910.4 - 1 2360 c.2157G>A c.(2155-2157)aaG>aaA p.K719K NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 719 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 TGGTGCTTATCTTGGTGTGTC 0.488000 32 50 0 0 0.013726 0 0 FGFR3 2261 broad.mit.edu 37 4 1808298 1808298 + Missense_Mutation SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr4:1808298G>A ENST00000340107.4 + 16 2318 c.2062G>A c.(2062-2064)Gag>Aag p.E688K FGFR3_ENST00000260795.2_Missense_Mutation_p.E686K|FGFR3_ENST00000481110.2_Missense_Mutation_p.G663E|FGFR3_ENST00000440486.2_Missense_Mutation_p.E686K|FGFR3_ENST00000352904.1_Missense_Mutation_p.E574K|FGFR3_ENST00000412135.2_Missense_Mutation_p.E574K NM_001163213.1 NP_001156685.1 P22607 FGFR3_HUMAN fibroblast growth factor receptor 3 686 Protein kinase. bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation integral to plasma membrane ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding p.E686K(1) NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607) 3091 Breast(71;0.212)|all_epithelial(65;0.241) all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234) Palifermin(DB00039) CCTGCTCTGGGAGATCTTCAC 0.652000 1 """Mis, T""" """IGH@, ETV6""" """bladder, MM, T-cell lymphoma""" """Hypochondroplasia, Thanatophoric dysplasia""" Saethre-Chotzen syndrome;Muenke syndrome 11 28 0 0 0.008291 0 0 PMFBP1 83449 broad.mit.edu 37 16 72164554 72164554 + Silent SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr16:72164554C>T ENST00000537465.1 - 11 1688 c.1530G>A c.(1528-1530)agG>agA p.R510R PMFBP1_ENST00000237353.10_Silent_p.R505R|PMFBP1_ENST00000355636.6_Silent_p.R360R Q8TBY8 PMFBP_HUMAN polyamine modulated factor 1 binding protein 1 510 NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1) 45 Ovarian(137;0.179) TCTGCAGTTTCCTCTGGGTGT 0.567000 19 31 0 0 0.007413 0 0 ADH7 131 broad.mit.edu 37 4 100350759 100350759 + Missense_Mutation SNP T T C TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr4:100350759T>C ENST00000437033.2 - 2 553 c.50A>G c.(49-51)gAg>gGg p.E17G ADH7_ENST00000482593.1_5'UTR|ADH7_ENST00000209665.4_Missense_Mutation_p.E29G|ADH7_ENST00000476959.1_Missense_Mutation_p.E37G P40394 ADH7_HUMAN alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide 29 ethanol oxidation|fatty acid omega-oxidation|response to bacterium|response to ethanol|xenobiotic metabolic process cytosol|soluble fraction alcohol dehydrogenase activity, zinc-dependent|aldehyde oxidase activity|ethanol binding|receptor antagonist activity|retinol binding|retinol dehydrogenase activity breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1) 19 OV - Ovarian serous cystadenocarcinoma(123;1.75e-08) NADH(DB00157) TTGCTTCTGCTCCCAAAGCAC 0.413000 8 12 0 0 0.010729 0 0 AHNAK2 113146 broad.mit.edu 37 14 105406625 105406625 + Missense_Mutation SNP C C A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr14:105406625C>A ENST00000333244.5 - 7 15282 c.15163G>T c.(15163-15165)Ggg>Tgg p.G5055W AHNAK2_ENST00000557457.1_Missense_Mutation_p.G53W NM_138420.2 NP_612429.2 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 5055 nucleus cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3) 33 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) AAGCTACCCCCTGCTGTGGCA 0.542000 38 80 1.67305e-13 1.78022e-13 0.006230 1 0 TRPC5 7224 broad.mit.edu 37 X 111195414 111195414 + Missense_Mutation SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chrX:111195414C>T ENST00000262839.2 - 2 1153 c.235G>A c.(235-237)Gag>Aag p.E79K NM_012471.2 NP_036603.1 Q9UL62 TRPC5_HUMAN transient receptor potential cation channel, subfamily C, member 5 79 axon guidance calcium channel complex|integral to plasma membrane protein binding|store-operated calcium channel activity biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 62 TTCTCGTTCTCAATGGCAATG 0.532000 44 8 0 0 0.013114 0 0 DSP 1832 broad.mit.edu 37 6 7578051 7578051 + Missense_Mutation SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr6:7578051G>A ENST00000379802.3 + 21 3258 c.2917G>A c.(2917-2919)Gaa>Aaa p.E973K DSP_ENST00000418664.2_Missense_Mutation_p.E973K NM_004415.2 NP_004406.2 P15924 DESP_HUMAN desmoplakin 973 Globular 1. cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural constituent of cytoskeleton biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5) 101 Ovarian(93;0.0584) all_hematologic(90;0.236) OV - Ovarian serous cystadenocarcinoma(45;0.000508) CTCAGGACTGGAAACTCTGCT 0.418000 108 11 0 0 0.014410 0 0 COBL 23242 broad.mit.edu 37 7 51096201 51096201 + Silent SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr7:51096201G>A ENST00000395542.2 - 12 3022 c.2838C>T c.(2836-2838)tcC>tcT p.S946S COBL_ENST00000265136.7_Silent_p.S864S O75128 COBL_HUMAN cordon-bleu WH2 repeat protein 864 NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 65 Glioma(55;0.08) CATACTGGCTGGACGTTCTTC 0.572000 44 70 0 0 0.011902 0 0 EPHA3 2042 broad.mit.edu 37 3 89528570 89528570 + Missense_Mutation SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr3:89528570C>T ENST00000336596.2 + 17 3095 c.2870C>T c.(2869-2871)aCc>aTc p.T957I EPHA3_ENST00000494014.1_3'UTR NM_005233.5 NP_005224.2 P29320 EPHA3_HUMAN EPH receptor A3 957 SAM. extracellular region|integral to plasma membrane ATP binding NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5) 139 all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612) Lung NSC(201;0.0782) LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942) GTTGGTGTCACCGTGGTTGGG 0.413000 TSP Lung(6;0.00050) 24 39 0 0 0.005443 0 0 SLC22A9 114571 broad.mit.edu 37 11 63141197 63141197 + Silent SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr11:63141197C>T ENST00000279178.3 + 3 837 c.588C>T c.(586-588)ttC>ttT p.F196F SLC22A9_ENST00000310969.4_Intron NM_080866.2 NP_543142.2 Q8IVM8 S22A9_HUMAN solute carrier family 22 (organic anion transporter), member 9 196 transmembrane transport integral to membrane breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1) 18 CTCCCACCTTCCTCATTTACT 0.463000 28 44 0 0 0.009535 0 0 NUP210L 91181 broad.mit.edu 37 1 154002385 154002385 + Missense_Mutation SNP T T A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr1:154002385T>A ENST00000368559.3 - 28 3913 c.3842A>T c.(3841-3843)gAa>gTa p.E1281V NUP210L_ENST00000368553.1_Missense_Mutation_p.E214V|NUP210L_ENST00000271854.3_Missense_Mutation_p.E1281V NM_207308.2 NP_997191.2 Q5VU65 P210L_HUMAN nucleoporin 210kDa-like 1281 integral to membrane NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2) 80 all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128) LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198) GATCTGTACTTCATCAGAGAG 0.398000 20 30 0 0 0.012319 0 0 TTN 7273 broad.mit.edu 37 2 179427187 179427187 + Missense_Mutation SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr2:179427187C>T ENST00000589042.1 - 326 83896 c.83672G>A c.(83671-83673)gGt>gAt p.G27891D TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G18951D|TTN_ENST00000342175.6_Missense_Mutation_p.G19018D|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.G26250D|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G25323D|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G18826D NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 26250 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) TTTGCTGCCACCATCACTTTC 0.433000 24 34 0 0 0.002780 0 0 XPO4 64328 broad.mit.edu 37 13 21417979 21417979 + Missense_Mutation SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr13:21417979G>A ENST00000400602.2 - 5 538 c.503C>T c.(502-504)tCa>tTa p.S168L XPO4_ENST00000255305.6_Missense_Mutation_p.S168L NM_022459.4 NP_071904.4 Q9C0E2 XPO4_HUMAN exportin 4 168 protein transport cytoplasm|nucleus protein binding breast(1)|endometrium(10)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 41 all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244) all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548) ACTTGAACTTGAAAATTCACT 0.343000 19 29 0 0 0.006122 0 0 OR14K1 343170 broad.mit.edu 37 1 247902051 247902051 + Silent SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr1:247902051C>T ENST00000283225.2 + 1 135 c.135C>T c.(133-135)ctC>ctT p.L45L RP11-634B7.4_ENST00000449298.1_RNA olfactory receptor, family 14, subfamily K, member 1 NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|lung(18)|ovary(1)|urinary_tract(1) 27 TCATCATTCTCCTCATGATTC 0.458000 33 40 0 0 0.012213 0 0 GLB1L 79411 broad.mit.edu 37 2 220104816 220104816 + Splice_Site SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr2:220104816C>T ENST00000295759.7 - 7 860 c.546_splice c.e7-1 p.V183_splice GLB1L_ENST00000409640.1_Intron|GLB1L_ENST00000356283.3_Intron|GLB1L_ENST00000392089.2_Splice_Site_p.V183_splice|GLB1L_ENST00000497855.1_Intron Q6UWU2 GLB1L_HUMAN galactosidase, beta 1-like 183 carbohydrate metabolic process extracellular region cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 22 all_lung(227;1.19e-05)|Lung NSC(271;2.76e-05)|Medulloblastoma(418;0.0208)|Esophageal squamous(248;0.0559) Epithelial(149;1.3e-11)|all cancers(144;2.07e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) TCATTCTCCACCTGCCAGAGG 0.537000 21 25 0 0 0.012319 0 0 IDH3A 3419 broad.mit.edu 37 15 78453956 78453956 + Missense_Mutation SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr15:78453956C>T ENST00000299518.2 + 5 406 c.323C>T c.(322-324)cCa>cTa p.P108L IDH3A_ENST00000559205.1_Intron|IDH3A_ENST00000558554.1_Intron|IDH3A_ENST00000558535.1_3'UTR|IDH3A_ENST00000441490.2_5'UTR NM_005530.2 NP_005521.1 P50213 IDH3A_HUMAN isocitrate dehydrogenase 3 (NAD+) alpha 108 carbohydrate metabolic process|tricarboxylic acid cycle mitochondrial matrix isocitrate dehydrogenase (NAD+) activity|magnesium ion binding|NAD binding endometrium(1)|large_intestine(5)|lung(5)|stomach(1) 12 NADH(DB00157) GCCGGTCACCCATCTATGAAT 0.453000 18 43 0 0 0.007413 0 0 DNAH9 1770 broad.mit.edu 37 17 11713572 11713572 + Missense_Mutation SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr17:11713572G>A ENST00000262442.3 + 45 8661 c.8593G>A c.(8593-8595)Gcc>Acc p.A2865T DNAH9_ENST00000454412.2_Missense_Mutation_p.A2865T NM_001372.3 NP_001363.2 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 2865 AAA 4 (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) GATGGACCTGGCCAGCCTGTG 0.448000 35 46 0 0 0.003755 0 0 IL17RE 132014 broad.mit.edu 37 3 9945733 9945733 + Missense_Mutation SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr3:9945733C>T ENST00000454190.2 + 3 251 c.166C>T c.(166-168)Cct>Tct p.P56S IL17RE_ENST00000383814.3_Missense_Mutation_p.P56S|IL17RE_ENST00000421412.1_Missense_Mutation_p.P89S|IL17RE_ENST00000295980.3_Missense_Mutation_p.P56S NM_001193380.1 NP_001180309.1 Q8NFR9 I17RE_HUMAN interleukin 17 receptor E 56 cytoplasm|extracellular region|integral to membrane receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(11)|skin(1) 21 OV - Ovarian serous cystadenocarcinoma(96;5.34e-64) TGCCTATATCCCTTGCCGCAC 0.547000 94 146 0 0 0.014410 0 0 ILDR2 387597 broad.mit.edu 37 1 166927321 166927321 + Nonsense_Mutation SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr1:166927321G>A ENST00000271417.3 - 2 119 c.64C>T c.(64-66)Cag>Tag p.Q22* ILDR2_ENST00000528703.1_Nonsense_Mutation_p.Q22*|ILDR2_ENST00000529387.1_Nonsense_Mutation_p.Q22*|ILDR2_ENST00000469934.2_Nonsense_Mutation_p.Q22*|ILDR2_ENST00000529071.1_Nonsense_Mutation_p.Q22*|ILDR2_ENST00000525740.1_Nonsense_Mutation_p.Q22*|ILDR2_ENST00000526687.1_Nonsense_Mutation_p.Q22* NM_199351.2 NP_955383.1 Q71H61 ILDR2_HUMAN immunoglobulin-like domain containing receptor 2 22 Ig-like V-type. integral to membrane NS(3)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 22 ACTGTGACCTGAAGGCCTTCG 0.517000 43 71 0 0 0.008740 0 0 OTOGL 283310 broad.mit.edu 37 12 80623121 80623121 + Nonsense_Mutation SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr12:80623121C>T ENST00000458043.2 + 7 553 c.547C>T c.(547-549)Cga>Tga p.R183* OTOGL_ENST00000547103.1_Nonsense_Mutation_p.R183* NM_173591.3 NP_775862.3 otogelin-like breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1) 23 AGAGGAAATTCGAATTTATGG 0.348000 30 41 0 0 0.007291 0 0 AADACL3 126767 broad.mit.edu 37 1 12785267 12785267 + Silent SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr1:12785267C>T ENST00000332530.3 + 3 373 c.147C>T c.(145-147)tcC>tcT p.S49S AADACL3_ENST00000359318.5_Silent_p.S119S NM_001103169.1 NP_001096639.1 Q5VUY0 ADCL3_HUMAN arylacetamide deacetylase-like 3 119 hydrolase activity p.S119S(1)|p.S49S(1) breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1) 15 Ovarian(185;0.249) Lung NSC(185;8.27e-05)|all_lung(284;9.47e-05)|Renal(390;0.000147)|Colorectal(325;0.000583)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649) TCCTGAAGTCCCTGGATGCAT 0.512000 49 69 0 0 0.014410 0 0 BTNL2 56244 broad.mit.edu 37 6 32372808 32372808 + Missense_Mutation SNP T T A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr6:32372808T>A ENST00000454136.3 - 2 339 c.335A>T c.(334-336)cAc>cTc p.H112L BTNL2_ENST00000429232.2_Missense_Mutation_p.H112L|BTNL2_ENST00000374993.1_Missense_Mutation_p.H112L|BTNL2_ENST00000374995.3_Missense_Mutation_p.H112L|BTNL2_ENST00000544175.1_Intron|BTNL2_ENST00000540315.1_Intron|BTNL2_ENST00000414363.1_Intron Q9UIR0 BTNL2_HUMAN butyrophilin-like 2 (MHC class II associated) 112 Ig-like V-type 1. integral to membrane central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)|urinary_tract(1) 19 CTGGATGTTGTGTATCTTCAG 0.488000 120 20 0 0 0.014410 0 0 CES3 23491 broad.mit.edu 37 16 67006383 67006383 + Silent SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr16:67006383C>T ENST00000303334.4 + 11 1487 c.1416C>T c.(1414-1416)ttC>ttT p.F472F CES3_ENST00000543856.1_Silent_p.F111F|CES3_ENST00000394037.1_Silent_p.F472F NM_024922.5 NP_079198.2 Q6UWW8 EST3_HUMAN carboxylesterase 3 472 endoplasmic reticulum lumen carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|skin(1) 24 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0488)|Epithelial(162;0.127) GAGGTCCCTTCCTCATGGACG 0.582000 44 71 0 0 0.014410 0 0 ADGRG6 57211 broad.mit.edu 37 6 142737023 142737023 + Nonsense_Mutation SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr6:142737023G>A ENST00000230173.6 + 20 3236 c.2760G>A c.(2758-2760)tgG>tgA p.W920* GPR126_ENST00000367609.3_Nonsense_Mutation_p.W920*|GPR126_ENST00000367608.2_Nonsense_Mutation_p.W892*|GPR126_ENST00000296932.8_Nonsense_Mutation_p.W892* NM_020455.5 NP_065188.4 Q86SQ4 GP126_HUMAN G protein-coupled receptor 126 920 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity cervix(1)|endometrium(1)|kidney(3)|large_intestine(12)|lung(10)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 36 Breast(32;0.176) OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121) TAGATGGCTGGATCACCTCCT 0.468000 43 70 0 0 0.010771 0 0 SUPT16H 11198 broad.mit.edu 37 14 21827667 21827667 + Silent SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr14:21827667G>A ENST00000216297.2 - 19 2615 c.2277C>T c.(2275-2277)gaC>gaT p.D759D NM_007192.3 NP_009123.1 Q9Y5B9 SP16H_HUMAN suppressor of Ty 16 homolog (S. cerevisiae) 759 DNA repair|DNA replication|nucleosome disassembly|positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction chromosome|nucleoplasm GTP binding breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 27 all_cancers(95;0.00115) Epithelial(56;1.62e-06)|all cancers(55;1.49e-05) GBM - Glioblastoma multiforme(265;0.0159) GGTCATCTCGGTCATGCATAT 0.463000 29 49 0 0 0.007291 0 0 MYH15 22989 broad.mit.edu 37 3 108133252 108133252 + Silent SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr3:108133252G>A ENST00000273353.3 - 31 4088 c.4032C>T c.(4030-4032)gcC>gcT p.A1344A NM_014981.1 NP_055796.1 Q9Y2K3 MYH15_HUMAN myosin, heavy chain 15 1344 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 CCTTCTGCAGGGCATGGGCCA 0.488000 16 19 0 0 0.004007 0 0 NMBR 4829 broad.mit.edu 37 6 142409773 142409773 + Missense_Mutation SNP T T C TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr6:142409773T>C ENST00000258042.1 - 1 163 c.23A>G c.(22-24)aAc>aGc p.N8S RP11-137J7.2_ENST00000454401.1_RNA NM_002511.2 NP_002502.2 P28336 NMBR_HUMAN neuromedin B receptor 8 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger cytoplasm|integral to plasma membrane bombesin receptor activity breast(2)|central_nervous_system(3)|endometrium(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 23 Breast(32;0.155) OV - Ovarian serous cystadenocarcinoma(155;9.93e-06)|GBM - Glioblastoma multiforme(68;0.0013) CACCGAGAGGTTGGAAAGAGA 0.607000 15 26 0 0 0.004007 0 0 MBD5 55777 broad.mit.edu 37 2 149248107 149248107 + Missense_Mutation SNP T T A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr2:149248107T>A ENST00000407073.1 + 12 5204 c.4207T>A c.(4207-4209)Tta>Ata p.L1403I MBD5_ENST00000404807.1_Missense_Mutation_p.L1636I NM_018328.4 NP_060798.2 Q9P267 MBD5_HUMAN methyl-CpG binding domain protein 5 1403 PWWP. chromosome|nucleus chromatin binding|DNA binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3) 62 BRCA - Breast invasive adenocarcinoma(221;0.0569) GCCTGGAAAATTAGTAAGAGA 0.428000 38 36 0 0 0.004878 0 0 SLC9A2 6549 broad.mit.edu 37 2 103236547 103236547 + Silent SNP C C A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr2:103236547C>A ENST00000233969.2 + 1 382 c.240C>A c.(238-240)atC>atA p.I80I NM_003048.3 NP_003039.2 Q9UBY0 SL9A2_HUMAN solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2 80 integral to membrane|plasma membrane sodium:hydrogen antiporter activity breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 42 ACGTGCAGATCCCCTTCGAGA 0.642000 19 24 0.000295444 0.000310229 0.014323 1 0 FBXW10 10517 broad.mit.edu 37 17 18654336 18654336 + Silent SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr17:18654336G>A ENST00000308799.4 + 4 1398 c.1179G>A c.(1177-1179)gtG>gtA p.V393V FBXW10_ENST00000395667.1_Silent_p.V364V|FBXW10_ENST00000301938.4_Silent_p.V364V|FBXW10_ENST00000395665.4_Silent_p.V364V Q5XX13 FBW10_HUMAN F-box and WD repeat domain containing 10 364 NS(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1) 42 GCATGCGTGTGAAACATCCGA 0.463000 62 106 0 0 0.014410 0 0 WDR36 134430 broad.mit.edu 37 5 110446899 110446899 + Silent SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr5:110446899C>T ENST00000506538.2 + 15 2379 c.1806C>T c.(1804-1806)ttC>ttT p.F602F WDR36_ENST00000513710.2_Silent_p.F602F|WDR36_ENST00000505303.1_Silent_p.F546F NM_139281.2 NP_644810.1 Q8NI36 WDR36_HUMAN WD repeat domain 36 602 response to stimulus|rRNA processing|visual perception small-subunit processome cervix(1)|endometrium(9)|kidney(4)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 all_cancers(142;2.72e-05)|all_epithelial(76;4.4e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0418)|Ovarian(225;0.0443)|Colorectal(57;0.0465)|all_lung(232;0.0508)|Breast(839;0.244) OV - Ovarian serous cystadenocarcinoma(64;1.39e-08)|Epithelial(69;1.82e-07)|all cancers(49;2.04e-05)|COAD - Colon adenocarcinoma(37;0.111) TGGATGACTTCTCCATTAGTG 0.378000 103 25 0 0 0.014410 0 0 OR52J3 119679 broad.mit.edu 37 11 5068546 5068546 + Missense_Mutation SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr11:5068546G>A ENST00000380370.1 + 1 791 c.791G>A c.(790-792)cGa>cAa p.R264Q NM_001001916.2 NP_001001916.2 Q8NH60 O52J3_HUMAN olfactory receptor, family 52, subfamily J, member 3 264 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.R264L(1) NS(1)|endometrium(1)|kidney(6)|large_intestine(6)|lung(19)|ovary(1)|skin(2) 36 Medulloblastoma(188;0.00131)|all_neural(188;0.0189)|Breast(177;0.0204) Epithelial(150;9.29e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.19) CTTACTCATCGATTTGGACAC 0.443000 38 56 0 0 0.007835 0 0 ACTL8 81569 broad.mit.edu 37 1 18152483 18152483 + Silent SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr1:18152483G>A ENST00000375406.1 + 3 786 c.570G>A c.(568-570)aaG>aaA p.K190K NM_030812.2 NP_110439.2 Q9H568 ACTL8_HUMAN actin-like 8 190 cytoplasm|cytoskeleton NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1) 28 Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00186)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439) UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;6.43e-06)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.00652)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201) GTCTCTTTAAGGAAGATTGCG 0.602000 OREG0013157 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 39 5 0 0 0.007835 0 0 OR14C36 127066 broad.mit.edu 37 1 248512159 248512159 + Missense_Mutation SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr1:248512159C>T ENST00000317861.1 + 1 83 c.83C>T c.(82-84)tCc>tTc p.S28F NM_001001918.1 NP_001001918.1 Q8NHC7 O14CZ_HUMAN olfactory receptor, family 14, subfamily C, member 36 28 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(2)|lung(20)|ovary(2)|prostate(3)|skin(7)|upper_aerodigestive_tract(2) 43 CATTCTGCATCCTTCTTTATG 0.443000 37 54 0 0 0.006230 0 0 BAGE2 85319 broad.mit.edu 37 21 11058340 11058340 + RNA SNP A A C rs28617310 by1000genomes TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr21:11058340A>C ENST00000470054.1 - 0 324 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) GGGGTAAAGGAGAGAAATCTC 0.363000 5 78 0 0 0.000602 0 0 AMPH 273 broad.mit.edu 37 7 38424445 38424445 + Missense_Mutation SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr7:38424445C>T ENST00000356264.2 - 21 2277 c.2062G>A c.(2062-2064)Gag>Aag p.E688K AMPH_ENST00000325590.5_Missense_Mutation_p.E646K|AMPH_ENST00000428293.2_Missense_Mutation_p.E646K NM_001635.3 NP_001626.1 P49418 AMPH_HUMAN amphiphysin 688 SH3. endocytosis|synaptic transmission actin cytoskeleton|cell junction|synaptic vesicle membrane breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2) 62 GTGAAGTTCTCTGGAAAGAGG 0.468000 38 54 0 0 0.008740 0 0 MYCBP2 23077 broad.mit.edu 37 13 77641724 77641724 + Silent SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr13:77641724G>A ENST00000407578.2 - 71 12713 c.12447C>T c.(12445-12447)ttC>ttT p.F4149F MYCBP2_ENST00000544440.2_Silent_p.F4111F|MYCBP2_ENST00000357337.6_Silent_p.F4111F NM_015057.4 NP_055872.4 O75592 MYCB2_HUMAN MYC binding protein 2, E3 ubiquitin protein ligase 4111 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ligase activity|protein binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 118 Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22) GBM - Glioblastoma multiforme(99;0.109) ACCTGGAATTGAAAATCATCG 0.388000 56 69 0 0 0.014410 0 0 BTNL2 56244 broad.mit.edu 37 6 32372809 32372809 + Missense_Mutation SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr6:32372809G>A ENST00000454136.3 - 2 338 c.334C>T c.(334-336)Cac>Tac p.H112Y BTNL2_ENST00000429232.2_Missense_Mutation_p.H112Y|BTNL2_ENST00000374993.1_Missense_Mutation_p.H112Y|BTNL2_ENST00000374995.3_Missense_Mutation_p.H112Y|BTNL2_ENST00000544175.1_Intron|BTNL2_ENST00000540315.1_Intron|BTNL2_ENST00000414363.1_Intron Q9UIR0 BTNL2_HUMAN butyrophilin-like 2 (MHC class II associated) 112 Ig-like V-type 1. integral to membrane central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)|urinary_tract(1) 19 TGGATGTTGTGTATCTTCAGT 0.493000 122 20 0 0 0.014410 0 0 VILL 50853 broad.mit.edu 37 3 38038579 38038579 + Silent SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr3:38038579C>T ENST00000283713.6 + 6 728 c.462C>T c.(460-462)tcC>tcT p.S154S VILL_ENST00000383759.2_Silent_p.S154S|VILL_ENST00000465644.1_Intron O15195 VILL_HUMAN villin-like 154 actin filament capping|cytoskeleton organization actin cytoskeleton actin binding|structural constituent of cytoskeleton cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|urinary_tract(2) 28 KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661) TGGAGCTCTCCTGGAACAGCT 0.542000 OREG0015474 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 32 58 0 0 0.012213 0 0 DPH1 1801 broad.mit.edu 37 17 1943100 1943100 + Silent SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr17:1943100C>T ENST00000263083.6 + 7 792 c.747C>T c.(745-747)ccC>ccT p.P249P DPH1_ENST00000570477.1_Silent_p.P169P NM_001383.3 NP_001374.3 Q9BZG8 DPH1_HUMAN diphthamide biosynthesis 1 249 peptidyl-diphthamide biosynthetic process from peptidyl-histidine|translation cytoplasm|nucleus endometrium(3)|large_intestine(2)|lung(6)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 17 TTGCCAACCCCAATGTCCCCG 0.592000 57 77 0 0 0.014410 0 0 COLEC10 10584 broad.mit.edu 37 8 120103388 120103388 + Splice_Site SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr8:120103388G>A ENST00000332843.2 + 3 262 c.220_splice c.e3-1 p.G74_splice COLEC10_ENST00000521788.1_3'UTR NM_006438.3 NP_006429.2 Q9Y6Z7 COL10_HUMAN collectin sub-family member 10 (C-type lectin) 74 Collagen-like. collagen|cytoplasm mannose binding endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 21 all_cancers(13;4.13e-26)|Lung NSC(37;1.36e-07)|Ovarian(258;0.018)|Hepatocellular(40;0.234) STAD - Stomach adenocarcinoma(47;0.00113) TGCTTTTCAGGAATTAAAGGA 0.373000 14 20 0 0 0.004007 0 0 ASIC2 40 broad.mit.edu 37 17 32483160 32483160 + Missense_Mutation SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr17:32483160G>A ENST00000359872.6 - 1 1153 c.392C>T c.(391-393)cCc>cTc p.P131L NM_001094.4 NP_001085.2 Q16515 ACCN1_HUMAN acid-sensing (proton-gated) ion channel 2 131 central nervous system development|peripheral nervous system development|synaptic transmission integral to plasma membrane ligand-gated sodium channel activity|protein binding Amiloride(DB00594) CAGCACGGAGGGGTCAGCCAG 0.617000 54 69 0 0 0.014410 0 0 STAB2 55576 broad.mit.edu 37 12 104140468 104140468 + Missense_Mutation SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr12:104140468G>A ENST00000388887.2 + 58 6434 c.6230G>A c.(6229-6231)gGa>gAa p.G2077E RP11-341G23.4_ENST00000551299.1_RNA NM_017564.9 NP_060034.9 Q8WWQ8 STAB2_HUMAN stabilin 2 2077 EGF-like 15. angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis cytoplasm|external side of plasma membrane|integral to plasma membrane Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2) 174 GAAGGTGACGGAATCACATGC 0.512000 80 73 0 0 0.014410 0 0 LHFPL4 375323 broad.mit.edu 37 3 9594046 9594046 + Silent SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr3:9594046G>A ENST00000287585.6 - 2 603 c.318C>T c.(316-318)atC>atT p.I106I NM_198560.2 NP_940962.1 Q7Z7J7 LHPL4_HUMAN lipoma HMGIC fusion partner-like 4 106 integral to membrane endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(3)|skin(1) 10 Medulloblastoma(99;0.227) TGCAGCCGAGGATCAGCACCA 0.612000 OREG0005683 type=TRANSCRIPTION FACTOR BINDING SITE|Gene=LHFPL4|TFbs=REST|Dataset=NRSF/REST ChIPSeq sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS) 22 25 0 0 0.003954 0 0 KLHL13 90293 broad.mit.edu 37 X 117079498 117079498 + Missense_Mutation SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chrX:117079498G>A ENST00000262820.3 - 2 1048 c.139C>T c.(139-141)Ctt>Ttt p.L47F KLHL13_ENST00000469946.1_5'UTR|KLHL13_ENST00000541812.1_Missense_Mutation_p.L31F|KLHL13_ENST00000540167.1_Missense_Mutation_p.L31F|KLHL13_ENST00000371878.1_5'UTR|KLHL13_ENST00000539496.1_Missense_Mutation_p.L50F|KLHL13_ENST00000371882.1_5'UTR|KLHL13_ENST00000371876.1_5'UTR|KLHL13_ENST00000545703.1_Missense_Mutation_p.L5F NM_033495.3 NP_277030.2 Q9P2N7 KLH13_HUMAN kelch-like family member 13 47 cytokinesis|mitosis|protein ubiquitination Cul3-RING ubiquitin ligase complex NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 34 CTGCCTCCAAGGGACAATTTC 0.428000 31 2 0 0 0.009535 0 0 ASTN2 23245 broad.mit.edu 37 9 119625870 119625870 + Missense_Mutation SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr9:119625870C>T ENST00000313400.4 - 11 2132 c.2032G>A c.(2032-2034)Gga>Aga p.G678R ASTN2_ENST00000361209.2_Missense_Mutation_p.G627R|ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000373996.3_Missense_Mutation_p.G674R O75129 ASTN2_HUMAN astrotactin 2 678 EGF-like 2. integral to membrane breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1) 102 ACCACACATCCCGAGGAATCC 0.612000 11 34 0 0 0.003163 0 0 GIGYF2 26058 broad.mit.edu 37 2 233620943 233620943 + Missense_Mutation SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr2:233620943C>T ENST00000373566.3 + 6 475 c.278C>T c.(277-279)tCc>tTc p.S93F GIGYF2_ENST00000409480.1_Missense_Mutation_p.S93F|GIGYF2_ENST00000409451.3_Missense_Mutation_p.S93F|GIGYF2_ENST00000409196.3_Missense_Mutation_p.S93F|GIGYF2_ENST00000373563.4_Missense_Mutation_p.S93F|GIGYF2_ENST00000409547.1_Missense_Mutation_p.S93F Q6Y7W6 PERQ2_HUMAN GRB10 interacting GYF protein 2 93 cell death protein binding NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 63 Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839) Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145) AGAAACTTTTCCATGTCTGTA 0.408000 13 21 0 0 0.013537 0 0 SCIN 85477 broad.mit.edu 37 7 12666342 12666342 + Missense_Mutation SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr7:12666342C>T ENST00000297029.5 + 8 1216 c.1115C>T c.(1114-1116)cCc>cTc p.P372L SCIN_ENST00000519209.1_Missense_Mutation_p.P125L|SCIN_ENST00000473722.1_3'UTR|SCIN_ENST00000445618.2_Missense_Mutation_p.P125L NM_001112706.2 NP_001106177.1 Q9Y6U3 ADSV_HUMAN scinderin 372 Ca(2+)-dependent actin binding. actin filament capping|actin filament severing|actin nucleation|calcium ion-dependent exocytosis|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of megakaryocyte differentiation|positive regulation of secretion|regulation of chondrocyte differentiation cell cortex|cytoskeleton 1-phosphatidylinositol binding|actin filament binding|calcium ion binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(2) 17 UCEC - Uterine corpus endometrioid carcinoma (126;0.195) AAACAAATTCCCTTTGATGCC 0.408000 3 8 0 0 0.004672 0 0 SYNE2 23224 broad.mit.edu 37 14 64608751 64608751 + Missense_Mutation SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr14:64608751C>T ENST00000357395.3 + 83 15550 c.4406C>T c.(4405-4407)tCc>tTc p.S1469F SYNE2_ENST00000344113.4_Missense_Mutation_p.S5084F|SYNE2_ENST00000555002.1_Missense_Mutation_p.S1718F|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000394768.2_Missense_Mutation_p.S1469F|SYNE2_ENST00000554584.1_Missense_Mutation_p.S5001F|SYNE2_ENST00000358025.3_Missense_Mutation_p.S5084F Q8WXH0 SYNE2_HUMAN spectrin repeat containing, nuclear envelope 2 5084 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) GATGAAGACTCCGTGCATTCA 0.388000 12 10 0 0 0.013537 0 0 C10orf62 414157 broad.mit.edu 37 10 99349867 99349867 + Silent SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr10:99349867C>T ENST00000370640.3 + 1 418 c.213C>T c.(211-213)tcC>tcT p.S71S PI4K2A_ENST00000370649.3_Intron|HOGA1_ENST00000370646.4_Intron|HOGA1_ENST00000370647.4_Intron|PI4K2A_ENST00000555577.1_Intron NM_001009997.2 NP_001009997.2 Q5T681 CJ062_HUMAN chromosome 10 open reading frame 62 71 protein binding endometrium(2)|kidney(1)|lung(1) 4 Colorectal(252;0.162) Epithelial(162;9.58e-11)|all cancers(201;8.62e-09) AGGTCAGCTCCACGGTTCACA 0.582000 27 30 0 0 0.003954 0 0 IGFN1 91156 broad.mit.edu 37 1 201190759 201190759 + Silent SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr1:201190759G>A ENST00000335211.4 + 19 10216 c.10086G>A c.(10084-10086)acG>acA p.T3362T IGFN1_ENST00000295591.8_Silent_p.T522T NM_001164586.1 NP_001158058.1 immunoglobulin-like and fibronectin type III domain containing 1 autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 CCACCTACACGGCCAAGGGGC 0.617000 39 33 0 0 0.006230 0 0 PIKFYVE 200576 broad.mit.edu 37 2 209190482 209190482 + Missense_Mutation SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr2:209190482C>T ENST00000264380.4 + 20 3105 c.2947C>T c.(2947-2949)Cct>Tct p.P983S NM_015040.3 NP_055855.2 Q9Y2I7 FYV1_HUMAN phosphoinositide kinase, FYVE finger containing 983 cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi early endosome membrane|membrane raft 1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 107 GTTGCCACTCCCTGTGGATGA 0.512000 21 31 0 0 0.003330 0 0 SRRT 51593 broad.mit.edu 37 7 100483874 100483874 + Missense_Mutation SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr7:100483874G>A ENST00000388793.4 + 13 1682 c.1462G>A c.(1462-1464)Gag>Aag p.E488K SRRT_ENST00000347433.4_Missense_Mutation_p.E489K|SRRT_ENST00000457580.2_Missense_Mutation_p.E489K|SRRT_ENST00000432932.1_Missense_Mutation_p.E488K NM_001128852.1|NM_015908.5 NP_001122324.1|NP_056992.4 Q9BXP5 SRRT_HUMAN serrate RNA effector molecule homolog (Arabidopsis) 489 cell proliferation|primary miRNA processing|response to arsenic-containing substance cytoplasm|nucleoplasm protein binding breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 40 CCAGCTCCGGGAGTGTGAGCT 0.582000 17 26 0 0 0.007413 0 0 SCN2A 6326 broad.mit.edu 37 2 166201069 166201069 + Missense_Mutation SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr2:166201069G>A ENST00000375437.2 + 16 2857 c.2567G>A c.(2566-2568)cGa>cAa p.R856Q SCN2A_ENST00000283256.6_Missense_Mutation_p.R856Q|SCN2A_ENST00000357398.3_Missense_Mutation_p.R856Q|SCN2A_ENST00000375427.2_Missense_Mutation_p.R856Q NM_001040142.1 NP_001035232.1 Q99250 SCN2A_HUMAN sodium channel, voltage-gated, type II, alpha subunit 856 myelination node of Ranvier|voltage-gated sodium channel complex voltage-gated sodium channel activity NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 118 Lamotrigine(DB00555) TTCCAGCTCCGAGTTTTCAAG 0.318000 18 20 0 0 0.004990 0 0 LYRM1 57149 broad.mit.edu 37 16 20927004 20927004 + Missense_Mutation SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr16:20927004G>A ENST00000396052.2 + 4 527 c.127G>A c.(127-129)Gaa>Aaa p.E43K LYRM1_ENST00000412082.2_Intron|LYRM1_ENST00000219168.4_Missense_Mutation_p.E43K|LYRM1_ENST00000439021.1_Missense_Mutation_p.E43K|LYRM1_ENST00000562740.1_Intron|LYRM1_ENST00000568663.1_Missense_Mutation_p.E43K|LYRM1_ENST00000569023.1_Missense_Mutation_p.E43K|LYRM1_ENST00000567954.1_Missense_Mutation_p.E43K O43325 LYRM1_HUMAN LYR motif containing 1 43 nucleus large_intestine(1)|prostate(1) 2 CATACTAAATGAAGCCAGAAC 0.438000 20 45 0 0 0.008871 0 0 ADAM11 4185 broad.mit.edu 37 17 42849142 42849142 + Silent SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr17:42849142G>A ENST00000200557.6 + 6 655 c.486G>A c.(484-486)ggG>ggA p.G162G ADAM11_ENST00000535346.1_5'UTR NM_002390.4 NP_002381.2 O75078 ADA11_HUMAN ADAM metallopeptidase domain 11 162 integrin-mediated signaling pathway|proteolysis integral to membrane|plasma membrane integrin binding|metalloendopeptidase activity|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 Prostate(33;0.0959) TCTCTGATGGGAACTTGACTT 0.652000 25 33 0 0 0.004656 0 0 TDRKH 11022 broad.mit.edu 37 1 151751311 151751311 + Missense_Mutation SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr1:151751311C>T ENST00000368822.1 - 6 1366 c.733G>A c.(733-735)Gag>Aag p.E245K TDRKH_ENST00000368823.1_Missense_Mutation_p.E241K|TDRKH_ENST00000368824.3_Missense_Mutation_p.E245K|TDRKH_ENST00000458431.2_Missense_Mutation_p.E245K|TDRKH_ENST00000368825.3_Missense_Mutation_p.E200K|TDRKH_ENST00000368827.6_Missense_Mutation_p.E245K|TDRKH_ENST00000440583.2_Missense_Mutation_p.E21K|TDRKH_ENST00000484421.1_5'UTR Q9Y2W6 TDRKH_HUMAN tudor and KH domain containing 245 RNA binding breast(5)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 26 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14) LUSC - Lung squamous cell carcinoma(543;0.181) GCAGTCGGCTCCATGCTAGAA 0.542000 54 62 0 0 0.014410 0 0 TSSK6 83983 broad.mit.edu 37 19 19625545 19625545 + Missense_Mutation SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr19:19625545G>A ENST00000360913.3 - 1 1293 c.692C>T c.(691-693)cCc>cTc p.P231L TSSK6_ENST00000585580.3_Missense_Mutation_p.P231L Q9BXA6 TSSK6_HUMAN testis-specific serine kinase 6 231 Protein kinase. multicellular organismal development|sperm chromatin condensation ATP binding|magnesium ion binding|protein serine/threonine kinase activity endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 16 GAGGCCTTCGGGATAGAGCAC 0.697000 23 44 0 0 0.003330 0 0 LOC100130331 100130331 broad.mit.edu 37 1 238090756 238090756 + RNA SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr1:238090756G>A ENST00000450451.1 + 0 2262 NR_027247.2 CCCAGCGGGAGATCATGCCCC 0.607000 5 5 0 0 0.000602 0 0 MC3R 4159 broad.mit.edu 37 20 54824281 54824281 + Silent SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr20:54824281C>T ENST00000243911.2 + 1 494 c.382C>T c.(382-384)Ctg>Ttg p.L128L NM_019888.3 NP_063941.3 P41968 MC3R_HUMAN melanocortin 3 receptor 165 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) CTGCATCTCCCTGGTGGCCTC 0.562000 34 47 0 0 0.013726 0 0 PTPN13 5783 broad.mit.edu 37 4 87556443 87556443 + Missense_Mutation SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr4:87556443C>T ENST00000436978.1 + 2 514 c.34C>T c.(34-36)Cgg>Tgg p.R12W PTPN13_ENST00000502971.1_Missense_Mutation_p.R12W|PTPN13_ENST00000316707.6_Missense_Mutation_p.R12W|PTPN13_ENST00000427191.2_Missense_Mutation_p.R12W|PTPN13_ENST00000411767.2_Missense_Mutation_p.R12W|PTPN13_ENST00000511467.1_Missense_Mutation_p.R12W NM_080683.2|NM_080685.2 NP_542414.1|NP_542416.1 Q12923 PTN13_HUMAN protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase) 12 KIND. cytoplasm|cytoskeleton|plasma membrane protein binding|protein tyrosine phosphatase activity NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2) 93 Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242) OV - Ovarian serous cystadenocarcinoma(123;0.00082) CCTGGAGGTTCGGGGTGGACC 0.443000 4 9 0 0 0.001168 0 0 NLK 51701 broad.mit.edu 37 17 26519196 26519196 + Missense_Mutation SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr17:26519196C>T ENST00000407008.3 + 10 2204 c.1486C>T c.(1486-1488)Ctc>Ttc p.L496F NM_016231.4 NP_057315.3 Q9UBE8 NLK_HUMAN nemo-like kinase 496 intracellular protein kinase cascade|negative regulation of Wnt receptor signaling pathway|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|serine phosphorylation of STAT3 protein|transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway|Wnt receptor signaling pathway cytoplasm|nucleus ATP binding|magnesium ion binding|MAP kinase activity|SH2 domain binding|transcription factor binding|ubiquitin protein ligase binding breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(1) 14 all_lung(13;0.000343)|Lung NSC(42;0.00184) UCEC - Uterine corpus endometrioid carcinoma (53;0.168) CAGAGTGCCTCTCTGCATCAA 0.373000 8 9 0 0 0.006214 0 0 PROS1 5627 broad.mit.edu 37 3 93615439 93615439 + Missense_Mutation SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr3:93615439G>A ENST00000394236.3 - 9 1262 c.946C>T c.(946-948)Cgt>Tgt p.R316C PROS1_ENST00000407433.1_Missense_Mutation_p.R185C NM_000313.3 NP_000304.2 P07225 PROS_HUMAN protein S (alpha) 316 Laminin G-like 1. leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis endoplasmic reticulum membrane|extracellular region|Golgi lumen|Golgi membrane|platelet alpha granule lumen calcium ion binding|endopeptidase inhibitor activity p.R316C(1) endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1) 46 Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170) TCTGGCAAACGAAATTTTAAA 0.408000 33 54 0 0 0.013726 0 0 ZSCAN20 7579 broad.mit.edu 37 1 33960610 33960610 + Missense_Mutation SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr1:33960610C>T ENST00000361328.3 + 8 2819 c.2666C>T c.(2665-2667)gCc>gTc p.A889V NM_145238.3 NP_660281.2 P17040 ZSC20_HUMAN zinc finger and SCAN domain containing 20 889 viral reproduction mitochondrion|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(2)|pancreas(1)|stomach(1) 31 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211) AAGAGCTCTGCCCTCATTAGT 0.468000 127 12 0 0 0.014410 0 0 SLC38A10 124565 broad.mit.edu 37 17 79219721 79219721 + Missense_Mutation SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr17:79219721C>T ENST00000374759.3 - 16 3378 c.2995G>A c.(2995-2997)Gag>Aag p.E999K NM_001037984.1 NP_001033073.1 Q9HBR0 S38AA_HUMAN solute carrier family 38, member 10 999 amino acid transport|sodium ion transport integral to membrane NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 all_neural(118;0.0804)|Melanoma(429;0.242) BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117) CTCGGCTGCTCGTGGGACACA 0.701000 39 45 0 0 0.009718 0 0 MYOM1 8736 broad.mit.edu 37 18 3090697 3090697 + Missense_Mutation SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr18:3090697C>T ENST00000400569.3 - 27 4301 c.3968G>A c.(3967-3969)gGa>gAa p.G1323E MYOM1_ENST00000261606.7_Missense_Mutation_p.G1227E|MYOM1_ENST00000356443.4_Missense_Mutation_p.G1323E P52179 MYOM1_HUMAN myomesin 1 1323 striated muscle myosin thick filament structural constituent of muscle NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 77 AGTTGCTTTTCCATCTTGAAG 0.418000 45 51 0 0 0.014410 0 0 DAAM1 23002 broad.mit.edu 37 14 59798092 59798092 + Missense_Mutation SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr14:59798092C>T ENST00000395125.1 + 13 1749 c.1726C>T c.(1726-1728)Cct>Tct p.P576S DAAM1_ENST00000360909.3_Missense_Mutation_p.P576S|DAAM1_ENST00000351081.1_Missense_Mutation_p.P576S NM_014992.2 NP_055807.1 Q9Y4D1 DAAM1_HUMAN dishevelled associated activator of morphogenesis 1 576 FH1.|Pro-rich. actin cytoskeleton organization cytoplasm|plasma membrane actin binding|Rho GTPase binding breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1) 37 OV - Ovarian serous cystadenocarcinoma(108;0.165) tggccctcctcctcccccAGG 0.632000 20 28 0 0 0.007413 0 0 CELA3A 10136 broad.mit.edu 37 1 22333991 22333991 + Missense_Mutation SNP A A G TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr1:22333991A>G ENST00000290122.3 + 6 644 c.625A>G c.(625-627)Atc>Gtc p.I209V NM_005747.4 NP_005738.4 chymotrypsin-like elastase family, member 3A endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 TGGAGGGTACATCCGCTCCGG 0.617000 4 74 0 0 0.003080 0 0 SLC2A1 6513 broad.mit.edu 37 1 43392771 43392771 + Missense_Mutation SNP G G T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr1:43392771G>T ENST00000426263.3 - 10 1598 c.1420C>A c.(1420-1422)Caa>Aaa p.Q474K SLC2A1_ENST00000475162.1_Intron NM_006516.2 NP_006507.2 P11166 GTR1_HUMAN solute carrier family 2 (facilitated glucose transporter), member 1 474 carbohydrate metabolic process|energy reserve metabolic process|regulation of insulin secretion|water-soluble vitamin metabolic process integral to membrane|melanosome|membrane fraction|midbody D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|pancreas(2) 13 Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0122) Etomidate(DB00292) TTGTCACTTTGGCTGGCTCCC 0.597000 34 42 1.62565e-12 1.72518e-12 0.012213 1 0 NEB 4703 broad.mit.edu 37 2 152482132 152482132 + Nonsense_Mutation SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr2:152482132C>T ENST00000427231.2 - 71 10570 c.10368G>A c.(10366-10368)tgG>tgA p.W3456* NEB_ENST00000409198.1_Nonsense_Mutation_p.W3213*|NEB_ENST00000397345.3_Nonsense_Mutation_p.W3456*|NEB_ENST00000172853.10_Nonsense_Mutation_p.W3213*|NEB_ENST00000603639.1_Nonsense_Mutation_p.W3456*|NEB_ENST00000604864.1_Nonsense_Mutation_p.W3456* NM_001164507.1 NP_001157979.1 P20929 NEBU_HUMAN nebulin 3456 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) TGTCTTTGTCCCAGGCTTCTG 0.338000 9 15 0 0 0.004482 0 0 NLRP13 126204 broad.mit.edu 37 19 56407388 56407388 + Missense_Mutation SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr19:56407388C>T ENST00000588751.1 - 11 3079 c.3055G>A c.(3055-3057)Gaa>Aaa p.E1019K NLRP13_ENST00000342929.3_Missense_Mutation_p.E1019K Q86W25 NAL13_HUMAN NLR family, pyrin domain containing 13 1019 ATP binding NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1) 109 Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218) GBM - Glioblastoma multiforme(193;0.0642) GTATCCAATTCATTGCCTAGA 0.468000 61 83 0 0 0.014410 0 0 GRID2 2895 broad.mit.edu 37 4 94547532 94547532 + Missense_Mutation SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr4:94547532G>A ENST00000282020.4 + 14 2564 c.2306G>A c.(2305-2307)gGa>gAa p.G769E GRID2_ENST00000510992.1_Missense_Mutation_p.G674E NM_001510.2 NP_001501.2 O43424 GRID2_HUMAN glutamate receptor, ionotropic, delta 2 769 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) GCTGATCGGGGATATGGAATT 0.388000 20 44 0 0 0.008871 0 0 OR13D1 286365 broad.mit.edu 37 9 107457324 107457324 + Missense_Mutation SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr9:107457324C>T ENST00000318763.5 + 1 665 c.622C>T c.(622-624)Cat>Tat p.H208Y NM_001004484.1 NP_001004484.1 Q8NGV5 O13D1_HUMAN olfactory receptor, family 13, subfamily D, member 1 208 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(4)|lung(10)|ovary(1)|prostate(2)|skin(2) 19 TGTCATTGATCATATTACCTG 0.398000 31 47 0 0 0.003271 0 0 SLIT1 6585 broad.mit.edu 37 10 98923177 98923177 + Missense_Mutation SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr10:98923177C>T ENST00000266058.4 - 3 546 c.301G>A c.(301-303)Gaa>Aaa p.E101K ARHGAP19-SLIT1_ENST00000453547.2_3'UTR|SLIT1_ENST00000371070.4_Missense_Mutation_p.E101K|SLIT1_ENST00000371041.3_Missense_Mutation_p.E101K|SLIT1_ENST00000456008.2_5'UTR NM_003061.2 NP_003052.2 O75093 SLIT1_HUMAN slit homolog 1 (Drosophila) 101 axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis cytoplasm|extracellular space calcium ion binding|Roundabout binding breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 78 Colorectal(252;0.162) Epithelial(162;2.02e-08)|all cancers(201;1.5e-06) GCACCACGTTCCACTGCTCCA 0.597000 158 182 0 0 0.014410 0 0 NEBL 10529 broad.mit.edu 37 10 21185889 21185889 + Missense_Mutation SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr10:21185889C>T ENST00000377122.4 - 2 547 c.151G>A c.(151-153)Gat>Aat p.D51N NEBL_ENST00000377119.1_Missense_Mutation_p.D51N|NEBL_ENST00000377159.4_Intron|NEBL_ENST00000417816.2_Intron NM_006393.2 NP_006384.1 O76041 NEBL_HUMAN nebulette 51 regulation of actin filament length actin binding|structural constituent of muscle NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 70 CCACTTACATCGCTAATGAGT 0.373000 27 67 0 0 0.009535 0 0 CACNA2D3 55799 broad.mit.edu 37 3 55038833 55038833 + Missense_Mutation SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr3:55038833G>A ENST00000474759.1 + 32 2782 c.2734G>A c.(2734-2736)Gaa>Aaa p.E912K CACNA2D3_ENST00000490478.1_Missense_Mutation_p.E818K|CACNA2D3_ENST00000478261.1_3'UTR|CACNA2D3_ENST00000288197.5_Missense_Mutation_p.E912K|CACNA2D3_ENST00000415676.2_Missense_Mutation_p.E912K NM_018398.2 NP_060868.2 Q8IZS8 CA2D3_HUMAN calcium channel, voltage-dependent, alpha 2/delta subunit 3 912 integral to membrane calcium channel activity|metal ion binding|voltage-gated ion channel activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3) 59 KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327) AGCCAACAAGGAAAGCAGCGA 0.458000 29 44 0 0 0.003271 0 0 ARGFX 503582 broad.mit.edu 37 3 121303784 121303784 + Missense_Mutation SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr3:121303784G>A ENST00000334384.3 + 3 251 c.241G>A c.(241-243)Gaa>Aaa p.E81K NM_001012659.1 NP_001012677.1 A6NJG6 ARGFX_HUMAN arginine-fifty homeobox 81 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 15 GBM - Glioblastoma multiforme(114;0.152) AAGGCATAAAGAACGTACTTC 0.423000 68 92 0 0 0.014410 0 0 UGT2B4 7363 broad.mit.edu 37 4 70361039 70361039 + Missense_Mutation SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr4:70361039C>T ENST00000305107.6 - 1 587 c.541G>A c.(541-543)Gaa>Aaa p.E181K UGT2B4_ENST00000506580.1_Intron|UGT2B4_ENST00000512583.1_Missense_Mutation_p.E181K|UGT2B4_ENST00000381096.3_Missense_Mutation_p.E45K NM_021139.2 NP_066962.2 P06133 UD2B4_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B4 181 estrogen catabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 47 CTATGCTTTTCAATTGCGTAG 0.443000 28 20 0 0 0.005443 0 0 HLA-F 3134 broad.mit.edu 37 6 29691462 29691462 + Missense_Mutation SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr6:29691462C>T ENST00000376861.1 + 3 476 c.92C>T c.(91-93)aCc>aTc p.T31I HLA-F_ENST00000440587.2_5'UTR|HLA-F_ENST00000259951.7_Missense_Mutation_p.T31I|HLA-F_ENST00000434407.2_Missense_Mutation_p.T31I|HLA-F_ENST00000334668.4_Missense_Mutation_p.T31I P30511 HLAF_HUMAN major histocompatibility complex, class I, F 31 Alpha-1. antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway integral to membrane|MHC class I protein complex MHC class I receptor activity cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1) 8 TATTTCAGCACCGCTGTGTCG 0.701000 22 3 0 0 0.007291 0 0 PDGFRL 5157 broad.mit.edu 37 8 17447138 17447138 + Missense_Mutation SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr8:17447138G>A ENST00000541323.1 + 3 662 c.217G>A c.(217-219)Gat>Aat p.D73N PDGFRL_ENST00000251630.6_Missense_Mutation_p.D73N|PDGFRL_ENST00000398074.3_Missense_Mutation_p.D73N NM_006207.2 NP_006198.1 Q15198 PGFRL_HUMAN platelet-derived growth factor receptor-like 73 Ig-like C2-type 1. extracellular region platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5) 9 Colorectal(111;0.0752) GCAAGTGCTGGATAAAGGTCG 0.507000 29 40 0 0 0.008361 0 0 RREB1 6239 broad.mit.edu 37 6 7231902 7231902 + Silent SNP C C G TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr6:7231902C>G ENST00000379938.2 + 10 4107 c.3570C>G c.(3568-3570)acC>acG p.T1190T RREB1_ENST00000334984.6_Silent_p.T1190T|RREB1_ENST00000349384.6_Silent_p.T1190T|RREB1_ENST00000379933.3_Silent_p.T1190T NM_001003699.3|NM_001003700.1 NP_001003699.1|NP_001003700.1 Q92766 RREB1_HUMAN ras responsive element binding protein 1 1190 multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter cytoplasm|nuclear speck DNA binding|zinc ion binding breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 Ovarian(93;0.0398) all_hematologic(90;0.0384)|Prostate(151;0.191) CCACAGACACCAACAAGTTCA 0.642000 10 23 0 0 0.008291 0 0 ANO9 338440 broad.mit.edu 37 11 430322 430322 + Silent SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr11:430322C>T ENST00000332826.6 - 8 705 c.621G>A c.(619-621)acG>acA p.T207T NM_001012302.2 NP_001012302.2 A1A5B4 ANO9_HUMAN anoctamin 9 207 chloride channel complex chloride channel activity central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|lung(5)|ovary(1)|prostate(4)|skin(4) 21 CTAAGAGGCCCGTCAGGGCGG 0.657000 14 5 0 0 0.001855 0 0 CNGA4 1262 broad.mit.edu 37 11 6261336 6261336 + Missense_Mutation SNP G G C TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr11:6261336G>C ENST00000379936.2 + 4 427 c.312G>C c.(310-312)agG>agC p.R104S CNGA4_ENST00000533426.1_Intron NM_001037329.3 NP_001032406.1 Q8IV77 CNGA4_HUMAN cyclic nucleotide gated channel alpha 4 104 response to stimulus|sensory perception of smell cAMP binding endometrium(2)|kidney(1)|large_intestine(9)|lung(24)|prostate(3)|skin(1) 40 Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029) Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135) ACAAGGGTAGGATCTCGAGTC 0.597000 45 62 0 0 0.009718 0 0 TNFRSF21 27242 broad.mit.edu 37 6 47221154 47221154 + Silent SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr6:47221154G>A ENST00000296861.2 - 4 1740 c.1347C>T c.(1345-1347)tcC>tcT p.S449S NM_014452.3 NP_055267.1 O75509 TNR21_HUMAN tumor necrosis factor receptor superfamily, member 21 449 Death. cellular lipid metabolic process cytoplasm|integral to membrane protein binding|receptor activity breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(7)|pancreas(1)|skin(2) 21 Lung(136;0.189) TGTACCCATTGGAGAAAGCAG 0.582000 16 21 0 0 0.003163 0 0 OR5H15 403274 broad.mit.edu 37 3 97888259 97888259 + Missense_Mutation SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr3:97888259C>T ENST00000356526.2 + 1 716 c.716C>T c.(715-717)tCc>tTc p.S239F NM_001005515.1 NP_001005515.1 A6NDH6 O5H15_HUMAN olfactory receptor, family 5, subfamily H, member 15 239 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(2)|stomach(1) 35 AAAGCCTTTTCCACCTGTGGA 0.413000 24 36 0 0 0.003330 0 0 FOXC2 2303 broad.mit.edu 37 16 86601503 86601503 + Missense_Mutation SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr16:86601503C>T ENST00000320354.4 + 1 647 c.562C>T c.(562-564)Ccg>Tcg p.P188S NM_005251.2 NP_005242.1 Q99958 FOXC2_HUMAN forkhead box C2 (MFH-1, mesenchyme forkhead 1) 188 anti-apoptosis|artery morphogenesis|blood vessel remodeling|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|embryonic viscerocranium morphogenesis|insulin receptor signaling pathway|lymphangiogenesis|metanephros development|negative regulation of transcription from RNA polymerase II promoter|neural crest cell fate commitment|Notch signaling pathway|ossification|paraxial mesodermal cell fate commitment|patterning of blood vessels|positive regulation of cell adhesion mediated by integrin|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of vascular wound healing|regulation of blood vessel size|regulation of organ growth|regulation of sequence-specific DNA binding transcription factor activity|somitogenesis|ureteric bud development|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis transcription factor complex chromatin DNA binding|DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding|transcription regulatory region DNA binding breast(1)|cervix(1)|endometrium(2)|kidney(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1) 15 GGAGCCGCCCCCGGCGGCGTC 0.701000 Late-onset Hereditary Lymphedema 14 21 0 0 0.001855 0 0 ZCCHC5 203430 broad.mit.edu 37 X 77912524 77912524 + Missense_Mutation SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chrX:77912524G>A ENST00000321110.1 - 2 1689 c.1394C>T c.(1393-1395)gCc>gTc p.A465V NM_152694.2 NP_689907.1 Q8N8U3 ZCHC5_HUMAN zinc finger, CCHC domain containing 5 465 nucleic acid binding|zinc ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)|prostate(1)|skin(1) 37 CGCCTGCAGGGCCTGATGAGG 0.542000 14 1 0 0 0.004007 0 0 PPP1R3A 5506 broad.mit.edu 37 7 113518493 113518493 + Missense_Mutation SNP A A G TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr7:113518493A>G ENST00000284601.3 - 4 2722 c.2654T>C c.(2653-2655)gTt>gCt p.V885A NM_002711.3 NP_002702.2 Q16821 PPR3A_HUMAN protein phosphatase 1, regulatory subunit 3A 885 glycogen metabolic process integral to membrane NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2) 121 TAATTCTTGAACCTGCCTAAG 0.358000 22 28 0 0 0.012319 0 0 CTNNA1 1495 broad.mit.edu 37 5 138260979 138260979 + Silent SNP C C T rs142503438 byFrequency TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr5:138260979C>T ENST00000302763.7 + 13 1872 c.1782C>T c.(1780-1782)gcC>gcT p.A594A CTNNA1_ENST00000540387.1_Silent_p.A224A|CTNNA1_ENST00000355078.5_Silent_p.A491A|CTNNA1_ENST00000518825.1_Silent_p.A594A NM_001903.2 NP_001894.2 P35221 CTNA1_HUMAN catenin (cadherin-associated protein), alpha 1, 102kDa 594 adherens junction organization|apical junction assembly|cell adhesion|cellular response to indole-3-methanol|muscle cell differentiation|positive regulation of muscle cell differentiation actin cytoskeleton|catenin complex|cytosol beta-catenin binding|cadherin binding|gamma-catenin binding|structural molecule activity|vinculin binding NS(1)|breast(7)|cervix(2)|endometrium(4)|kidney(6)|large_intestine(16)|lung(9)|oesophagus(2)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1) 52 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325) TAGAAGCAGCCGTGGAAGCCC 0.557000 28 4 0 0 0.007291 0 0 BAI3 577 broad.mit.edu 37 6 70071218 70071218 + Missense_Mutation SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr6:70071218G>A ENST00000370598.1 + 29 4874 c.4053G>A c.(4051-4053)atG>atA p.M1351I BAI3_ENST00000238918.8_Missense_Mutation_p.M557I|BAI3_ENST00000546190.1_Missense_Mutation_p.M315I NM_001704.2 NP_001695.1 O60242 BAI3_HUMAN brain-specific angiogenesis inhibitor 3 1351 negative regulation of angiogenesis|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 210 all_lung(197;0.212) AATTCAATATGAATCCCCCTG 0.428000 45 54 0 0 0.014410 0 0 GPC6 10082 broad.mit.edu 37 13 95055279 95055279 + Silent SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr13:95055279C>T ENST00000377047.4 + 9 2091 c.1476C>T c.(1474-1476)tcC>tcT p.S492S NM_005708.3 NP_005699.1 Q9Y625 GPC6_HUMAN glypican 6 492 anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix heparan sulfate proteoglycan binding NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 38 all_neural(89;0.0684)|Medulloblastoma(90;0.163) all_cancers(2;5.48e-07)|all_epithelial(2;5.69e-08)|all_lung(2;2.19e-05)|Lung NSC(4;6.09e-05)|Breast(118;0.0395)|Renal(2;0.0568)|Hepatocellular(115;0.217) GTGATGAATCCAGTGGCTCAG 0.512000 74 98 0 0 0.014410 0 0 CFHR4 10877 broad.mit.edu 37 1 196881899 196881899 + Missense_Mutation SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr1:196881899G>A ENST00000367416.2 + 7 1161 c.1024G>A c.(1024-1026)Gaa>Aaa p.E342K CFHR4_ENST00000367418.1_Missense_Mutation_p.E96K|CFHR2_ENST00000367421.3_Intron|CFHR4_ENST00000251424.4_Missense_Mutation_p.E96K NM_001201550.2|NM_001201551.1 NP_001188479.1|NP_001188480.1 complement factor H-related 4 NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|pancreas(1)|skin(2)|stomach(1) 36 TATAGAAATTGAAAATGGATT 0.259000 4 11 0 0 0.001168 0 0 SOS1 6654 broad.mit.edu 37 2 39285889 39285889 + Silent SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr2:39285889G>A ENST00000426016.1 - 4 356 c.270C>T c.(268-270)gcC>gcT p.A90A SOS1_ENST00000395038.2_Silent_p.A90A|SOS1_ENST00000402219.2_Silent_p.A90A|SOS1_ENST00000428721.2_Silent_p.A33A Q07889 SOS1_HUMAN son of sevenless homolog 1 (Drosophila) 90 apoptosis|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction cytosol DNA binding|protein binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity p.A90A(1) autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2) 75 all_hematologic(82;0.21) TAGCTGATTGGGCATCAGCTA 0.343000 Noonan syndrome 31 22 0 0 0.009535 0 0 LRRC4C 57689 broad.mit.edu 37 11 40137212 40137212 + Missense_Mutation SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr11:40137212C>T ENST00000278198.2 - 2 2594 c.631G>A c.(631-633)Gaa>Aaa p.E211K LRRC4C_ENST00000527150.1_Missense_Mutation_p.E211K|LRRC4C_ENST00000528697.1_Missense_Mutation_p.E211K|LRRC4C_ENST00000530763.1_Missense_Mutation_p.E211K Q9HCJ2 LRC4C_HUMAN leucine rich repeat containing 4C 211 regulation of axonogenesis integral to membrane protein binding p.E211*(1) NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 86 all_lung(304;0.0575)|Lung NSC(402;0.138) TTAGGGATTTCCCGAAGGTTG 0.453000 31 42 0 0 0.010818 0 0 CPXM2 119587 broad.mit.edu 37 10 125514272 125514272 + Missense_Mutation SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr10:125514272G>A ENST00000241305.3 - 13 2078 c.1924C>T c.(1924-1926)Cgt>Tgt p.R642C CPXM2_ENST00000368854.3_5'UTR NM_198148.2 NP_937791.2 Q8N436 CPXM2_HUMAN carboxypeptidase X (M14 family), member 2 642 cell adhesion|proteolysis extracellular space metallocarboxypeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3) 47 all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233) COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237) TTAATGCCACGATGAACCTGC 0.517000 47 58 0 0 0.013114 0 0 NUP210L 91181 broad.mit.edu 37 1 153998119 153998119 + Missense_Mutation SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr1:153998119C>T ENST00000368559.3 - 30 4092 c.4021G>A c.(4021-4023)Gaa>Aaa p.E1341K NUP210L_ENST00000368553.1_Missense_Mutation_p.E274K|NUP210L_ENST00000271854.3_Missense_Mutation_p.E1341K NM_207308.2 NP_997191.2 Q5VU65 P210L_HUMAN nucleoporin 210kDa-like 1341 integral to membrane NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2) 80 all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128) LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198) AGGAGCCCTTCACCATCCTCC 0.478000 94 159 0 0 0.014410 0 0 ZC4H2 55906 broad.mit.edu 37 X 64139046 64139046 + Missense_Mutation SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chrX:64139046G>A ENST00000545618.1 - 5 985 c.422C>T c.(421-423)cCt>cTt p.P141L ZC4H2_ENST00000488608.1_5'UTR|ZC4H2_ENST00000337990.2_Missense_Mutation_p.P123L|ZC4H2_ENST00000374839.3_Missense_Mutation_p.P146L|ZC4H2_ENST00000447788.2_Intron Q9NQZ6 ZC4H2_HUMAN zinc finger, C4H2 domain containing 146 metal ion binding|protein binding endometrium(2)|large_intestine(4)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 24 GGGCTCCTGAGGTTCTGTCTG 0.552000 24 3 0 0 0.007291 0 0 EEPD1 80820 broad.mit.edu 37 7 36194146 36194146 + Silent SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr7:36194146C>T ENST00000242108.4 + 2 931 c.213C>T c.(211-213)atC>atT p.I71I EEPD1_ENST00000534978.1_Silent_p.I71I NM_030636.2 NP_085139.2 Q7L9B9 EEPD1_HUMAN endonuclease/exonuclease/phosphatase family domain containing 1 71 DNA repair DNA binding endometrium(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|skin(1) 18 GAGAGTATATCGGTGGCTTCA 0.592000 36 54 0 0 0.003755 0 0 CYP4F2 8529 broad.mit.edu 37 19 15989695 15989695 + Silent SNP C C G TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr19:15989695C>G ENST00000221700.5 - 13 1544 c.1449G>C c.(1447-1449)gcG>gcC p.A483A CYP4F2_ENST00000592328.1_Silent_p.A483A NM_001082.3 NP_001073.3 P78329 CP4F2_HUMAN cytochrome P450, family 4, subfamily F, polypeptide 2 483 leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding p.A483A(1) NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 GCAGCGTGAGCGCCAGGACCA 0.682000 16 41 0 0 0.004990 0 0 CHN2 1124 broad.mit.edu 37 7 29546880 29546880 + Missense_Mutation SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr7:29546880C>T ENST00000222792.6 + 11 1558 c.1028C>T c.(1027-1029)cCa>cTa p.P343L CHN2_ENST00000546235.1_Missense_Mutation_p.P328L|CHN2_ENST00000439711.2_Intron|CHN2_ENST00000409041.4_Missense_Mutation_p.P207L|CHN2_ENST00000410098.1_3'UTR|CHN2_ENST00000539406.1_Missense_Mutation_p.P418L|CHN2_ENST00000424025.2_Missense_Mutation_p.P162L|CHN2_ENST00000435288.2_Intron|CHN2_ENST00000539389.1_Missense_Mutation_p.P199L|CHN2_ENST00000421775.2_Missense_Mutation_p.P149L|CHN2_ENST00000495789.2_Missense_Mutation_p.P356L NM_004067.2 NP_004058.1 P52757 CHIO_HUMAN chimerin 2 343 Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|membrane GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity breast(2)|endometrium(3)|large_intestine(2)|lung(12)|ovary(2)|urinary_tract(2) 23 AATGTCTATCCAGACATAAAC 0.388000 18 18 0 0 0.006122 0 0 NDRG1 10397 broad.mit.edu 37 8 134256628 134256628 + Silent SNP C C T rs150101908 by1000genomes TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr8:134256628C>T ENST00000414097.2 - 14 1728 c.861G>A c.(859-861)gcG>gcA p.A287A NDRG1_ENST00000521414.1_5'UTR|NDRG1_ENST00000522476.1_Silent_p.A221A|NDRG1_ENST00000354944.5_Silent_p.A217A|NDRG1_ENST00000518066.1_Intron|NDRG1_ENST00000537882.1_Silent_p.A206A|NDRG1_ENST00000323851.7_Silent_p.A287A|NDRG1_ENST00000518176.1_Silent_p.A34A NM_001135242.1 NP_001128714.1 Q92597 NDRG1_HUMAN N-myc downstream regulated 1 287 cellular response to hypoxia|response to metal ion cytoplasm|microtubule cytoskeleton|nucleus|plasma membrane protein binding NDRG1/ERG(5) endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(4)|prostate(1)|skin(1) 17 all_epithelial(106;4.26e-24)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0107) CGCCACAGTCCGCCATCTAGG 0.577000 T ERG prostate 16 20 0 0 0.004990 0 0 STAB1 23166 broad.mit.edu 37 3 52556346 52556346 + Splice_Site SNP A A G TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr3:52556346A>G ENST00000321725.6 + 60 6542 c.6465_splice c.e60-1 p.N2156_splice NM_015136.2 NP_055951.2 Q9NY15 STAB1_HUMAN stabilin 1 2156 EGF-like 16. cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis integral to plasma membrane bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3) 76 BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482) CCAACCCCAGAACACACGGCG 0.652000 23 34 0 0 0.014323 0 0 ZNF782 158431 broad.mit.edu 37 9 99581721 99581721 + Missense_Mutation SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr9:99581721G>A ENST00000481138.1 - 6 1245 c.584C>T c.(583-585)aCc>aTc p.T195I ZNF782_ENST00000535338.1_Missense_Mutation_p.T63I|ZNF782_ENST00000466833.1_5'UTR NM_001001662.1 NP_001001662.1 Q6ZMW2 ZN782_HUMAN zinc finger protein 782 195 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(8)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(3) 33 Acute lymphoblastic leukemia(62;0.0527) ATGATGGAGGGTTTTCACAAT 0.363000 22 20 0 0 0.014323 0 0 LRBA 987 broad.mit.edu 37 4 151792567 151792567 + Missense_Mutation SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr4:151792567G>A ENST00000535741.1 - 19 2770 c.2297C>T c.(2296-2298)tCa>tTa p.S766L LRBA_ENST00000357115.3_Missense_Mutation_p.S766L|LRBA_ENST00000510413.1_Missense_Mutation_p.S766L|LRBA_ENST00000507224.1_Missense_Mutation_p.S766L P50851 LRBA_HUMAN LPS-responsive vesicle trafficking, beach and anchor containing 766 endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane protein binding breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 91 all_hematologic(180;0.151) AGCTAGCAATGAAAACAATCC 0.368000 26 38 0 0 0.008361 0 0 EXOC3L2 90332 broad.mit.edu 37 19 45719416 45719416 + Missense_Mutation SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr19:45719416G>A ENST00000413988.1 - 9 896 c.856C>T c.(856-858)Cat>Tat p.H286Y AC006126.3_ENST00000591569.1_Intron|EXOC3L2_ENST00000252482.3_Missense_Mutation_p.H286Y NM_138568.3 NP_612635.3 Q2M3D2 EX3L2_HUMAN exocyst complex component 3-like 2 286 endometrium(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 12 all_neural(266;0.224)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.00883) TCAGCCAAATGGGGCACCACG 0.642000 19 27 0 0 0.012319 0 0 DTNA 1837 broad.mit.edu 37 18 32459604 32459604 + Missense_Mutation SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr18:32459604G>A ENST00000283365.9 + 19 2182 c.1831G>A c.(1831-1833)Gct>Act p.A611T DTNA_ENST00000399097.3_Missense_Mutation_p.A316T|DTNA_ENST00000399113.3_Missense_Mutation_p.A668T|DTNA_ENST00000601125.1_Missense_Mutation_p.A290T|DTNA_ENST00000595022.1_Missense_Mutation_p.A608T|DTNA_ENST00000444659.1_Missense_Mutation_p.A668T|DTNA_ENST00000269192.7_Missense_Mutation_p.A377T|DTNA_ENST00000591182.1_Missense_Mutation_p.A316T|DTNA_ENST00000598142.1_Missense_Mutation_p.A611T|DTNA_ENST00000399121.5_Missense_Mutation_p.A615T|DTNA_ENST00000590831.2_Missense_Mutation_p.A94T|DTNA_ENST00000556414.3_Missense_Mutation_p.A320T|DTNA_ENST00000598334.1_Missense_Mutation_p.A608T|DTNA_ENST00000269190.7_Missense_Mutation_p.A669T NM_032975.3 NP_116757.2 Q9Y4J8 DTNA_HUMAN dystrobrevin, alpha 668 neuromuscular synaptic transmission|signal transduction|striated muscle contraction cell junction|cytoplasm|synapse calcium ion binding|protein binding|zinc ion binding endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(2)|lung(19)|prostate(1)|upper_aerodigestive_tract(1) 29 CTCTGAAAAGGCTTTTCTAGC 0.478000 22 24 0 0 0.002780 0 0 ASPA 443 broad.mit.edu 37 17 3397703 3397703 + Missense_Mutation SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr17:3397703C>T ENST00000263080.2 + 5 852 c.694C>T c.(694-696)Ccc>Tcc p.P232S SPATA22_ENST00000541913.1_Intron|ASPA_ENST00000456349.2_Missense_Mutation_p.P232S NM_000049.2 NP_000040.1 P45381 ACY2_HUMAN aspartoacylase 232 aspartate catabolic process cytoplasm|nucleus aminoacylase activity|aspartoacylase activity|hydrolase activity, acting on ester bonds|metal ion binding breast(2)|endometrium(2)|large_intestine(6)|lung(5)|stomach(1)|urinary_tract(1) 17 L-Aspartic Acid(DB00128) AGTTGATTACCCCCGGGATGA 0.338000 85 114 0 0 0.014410 0 0 C4orf17 84103 broad.mit.edu 37 4 100434341 100434341 + Missense_Mutation SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr4:100434341C>T ENST00000514652.1 + 2 457 c.103C>T c.(103-105)Ccc>Tcc p.P35S C4orf17_ENST00000326581.4_Missense_Mutation_p.P35S Q53FE4 CD017_HUMAN chromosome 4 open reading frame 17 35 central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|urinary_tract(3) 18 OV - Ovarian serous cystadenocarcinoma(123;2.08e-08) CACCCCTCATCCCAGAAGAGT 0.468000 30 52 0 0 0.008361 0 0 PIK3R6 146850 broad.mit.edu 37 17 8726803 8726803 + Silent SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr17:8726803C>T ENST00000311434.9 - 14 1766 c.1527G>A c.(1525-1527)ctG>ctA p.L509L PIK3R6_ENST00000434064.2_5'UTR NM_001010855.2 NP_001010855.1 Q5UE93 PI3R6_HUMAN phosphoinositide-3-kinase, regulatory subunit 6 509 platelet activation cytosol GGGATGTGTCCAGGGAAGGAG 0.532000 6 9 0 0 0.001168 0 0 FAM46C 54855 broad.mit.edu 37 1 118165614 118165614 + Missense_Mutation SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr1:118165614C>T ENST00000369448.3 + 2 371 c.124C>T c.(124-126)Cca>Tca p.P42S NM_017709.3 NP_060179.2 Q5VWP2 FA46C_HUMAN family with sequence similarity 46, member C 42 endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1) 15 Lung SC(450;0.225) all_cancers(81;0.000101)|all_lung(203;3.4e-06)|all_epithelial(167;4.98e-06)|Lung NSC(69;2.33e-05) Lung(183;0.0576)|LUSC - Lung squamous cell carcinoma(189;0.192)|Colorectal(144;0.247) AGGCAACTTTCCAACCTTGGA 0.572000 """Mis, F, O""" MM Multiple Myeloma(3;1.13e-06) 55 9 0 0 0.014410 0 0 NOS1 4842 broad.mit.edu 37 12 117685243 117685243 + Silent SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr12:117685243C>T ENST00000317775.6 - 18 3418 c.2733G>A c.(2731-2733)ctG>ctA p.L911L NOS1_ENST00000344089.3_3'UTR|NOS1_ENST00000338101.4_Silent_p.L945L NM_000620.4|NM_001204218.1 NP_000611.1|NP_001191147.1 P29475 NOS1_HUMAN nitric oxide synthase 1 (neuronal) 911 Flavodoxin-like. multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 117 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.0561) L-Citrulline(DB00155) TCTCCCCTCCCAGTTCTTCCA 0.557000 40 55 0 0 0.008740 0 0 MGA 23269 broad.mit.edu 37 15 42019410 42019410 + Nonsense_Mutation SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr15:42019410C>T ENST00000219905.7 + 10 3644 c.3463C>T c.(3463-3465)Cga>Tga p.R1155* MGA_ENST00000570161.1_Nonsense_Mutation_p.R1155*|MGA_ENST00000389936.4_Nonsense_Mutation_p.R1155*|MGA_ENST00000566586.1_Nonsense_Mutation_p.R1155*|MGA_ENST00000545763.1_Nonsense_Mutation_p.R1155* NM_001164273.1 NP_001157745.1 Q8IWI9 MGAP_HUMAN MGA, MAX dimerization protein 1155 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) ACAGCCTGTTCGACATTACCC 0.408000 18 16 0 0 0.007413 0 0 DCSTAMP 81501 broad.mit.edu 37 8 105367210 105367210 + Missense_Mutation SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr8:105367210C>T ENST00000297581.2 + 3 1184 c.1135C>T c.(1135-1137)Cct>Tct p.P379S DCSTAMP_ENST00000517991.1_Intron|DPYS_ENST00000521601.1_Intron NM_030788.3 NP_110415.1 Q9H295 TM7S4_HUMAN dendrocyte expressed seven transmembrane protein 379 osteoclast differentiation cell surface|integral to membrane|plasma membrane GACCTGGGTTCCTCTCAGTGT 0.393000 38 21 0 0 0.004289 0 0 TRPM5 29850 broad.mit.edu 37 11 2439583 2439583 + Silent SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr11:2439583G>A ENST00000452833.1 - 6 734 c.726C>T c.(724-726)atC>atT p.I242I TRPM5_ENST00000533060.1_Silent_p.I240I|TRPM5_ENST00000528453.1_Silent_p.I240I|TRPM5_ENST00000155858.6_Silent_p.I240I Q9NZQ8 TRPM5_HUMAN transient receptor potential cation channel, subfamily M, member 5 240 integral to membrane|plasma membrane receptor activity|voltage-gated ion channel activity breast(1)|central_nervous_system(1)|endometrium(4)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2) 23 Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311) BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191) CGGCCCTGGAGATCCTCTGAG 0.672000 101 121 0 0 0.014410 0 0 F11 2160 broad.mit.edu 37 4 187205274 187205274 + Silent SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr4:187205274C>T ENST00000264692.4 + 11 1341 c.1008C>T c.(1006-1008)atC>atT p.I336I F11_ENST00000403665.2_Silent_p.I388I P03951 FA11_HUMAN coagulation factor XI 388 Apple 4. blood coagulation, intrinsic pathway|plasminogen activation|positive regulation of fibrinolysis extracellular space|plasma membrane heparin binding|serine-type endopeptidase activity NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 32 all_cancers(14;6.2e-52)|all_epithelial(14;1.62e-38)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|all_neural(102;0.202) OV - Ovarian serous cystadenocarcinoma(60;2.13e-11)|BRCA - Breast invasive adenocarcinoma(30;4.59e-06)|GBM - Glioblastoma multiforme(59;0.000149)|STAD - Stomach adenocarcinoma(60;0.000314)|LUSC - Lung squamous cell carcinoma(40;0.00112)|READ - Rectum adenocarcinoma(43;0.176) Coagulation Factor IX(DB00100) AGCCCAGGATCGTTGGAGGAA 0.517000 46 42 0 0 0.014410 0 0 VPS26B 112936 broad.mit.edu 37 11 134113052 134113052 + Silent SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr11:134113052C>T ENST00000281187.5 + 4 1063 c.585C>T c.(583-585)ttC>ttT p.F195F VPS26B_ENST00000525095.2_Silent_p.F195F|VPS26B_ENST00000530402.1_3'UTR NM_052875.3 NP_443107.1 Q4G0F5 VP26B_HUMAN vacuolar protein sorting 26 homolog B (S. pombe) 195 protein transport|vacuolar transport cytosol|retromer complex breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7) 14 all_hematologic(175;0.127) all_cancers(12;1.1e-21)|all_epithelial(12;3.77e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559) Epithelial(10;2.43e-10)|all cancers(11;2.94e-09)|BRCA - Breast invasive adenocarcinoma(10;9.57e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00164)|Lung(977;0.216) AGATATACTTCCTGCTGGTGA 0.443000 19 31 0 0 0.014323 0 0 TRAV13-2 28670 broad.mit.edu 37 14 22386781 22386781 + RNA SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr14:22386781C>T ENST00000390439.2 + 0 260 TGGAAAAGGTCCTCAATTCAT 0.403000 17 31 0 0 0.007413 0 0 CABP2 51475 broad.mit.edu 37 11 67286622 67286622 + Missense_Mutation SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr11:67286622C>T ENST00000294288.4 - 7 720 c.651G>A c.(649-651)atG>atA p.M217I CABP2_ENST00000353903.5_Missense_Mutation_p.M160I NM_016366.2 NP_057450.2 Q9NPB3 CABP2_HUMAN calcium binding protein 2 217 EF-hand 4. signal transduction Golgi apparatus|perinuclear region of cytoplasm|plasma membrane calcium ion binding endometrium(2)|large_intestine(1)|lung(3)|prostate(1)|skin(2) 9 ACCGAGACATCATTCGCACAA 0.572000 18 27 0 0 0.008871 0 0 COL4A5 1287 broad.mit.edu 37 X 107807133 107807133 + Missense_Mutation SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chrX:107807133C>T ENST00000328300.6 + 4 497 c.253C>T c.(253-255)Cca>Tca p.P85S COL4A5_ENST00000361603.2_Missense_Mutation_p.P85S NM_033380.2 NP_203699.1 P29400 CO4A5_HUMAN collagen, type IV, alpha 5 85 Triple-helical region. axon guidance collagen type IV extracellular matrix structural constituent|protein binding p.P85T(1) NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 99 AATTCCAGGGCCACCAGGACC 0.328000 Alport syndrome with Diffuse Leiomyomatosis 9 2 0 0 0.008291 0 0 MYL1 4632 broad.mit.edu 37 2 211163172 211163172 + Silent SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr2:211163172C>T ENST00000352451.3 - 3 423 c.276G>A c.(274-276)agG>agA p.R92R MYL1_ENST00000341685.4_Silent_p.R48R|MYL1_ENST00000496436.1_5'UTR NM_079420.2 NP_524144.1 P05976 MYL1_HUMAN myosin, light chain 1, alkali; skeletal, fast 92 muscle filament sliding|muscle organ development cytosol|muscle myosin complex|sarcomere calcium ion binding|structural constituent of muscle breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1) 16 Epithelial(149;0.00573)|Lung(261;0.0422)|LUSC - Lung squamous cell carcinoma(261;0.0444)|all cancers(144;0.057) CCAGAACTTTCCTGACCTCTG 0.478000 43 69 0 0 0.014410 0 0 SLC44A5 204962 broad.mit.edu 37 1 75707698 75707698 + Missense_Mutation SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr1:75707698G>A ENST00000370855.5 - 9 633 c.520C>T c.(520-522)Ccc>Tcc p.P174S SLC44A5_ENST00000535611.1_Missense_Mutation_p.P44S|SLC44A5_ENST00000370859.3_Missense_Mutation_p.P174S NM_152697.4 NP_689910.2 Q8NCS7 CTL5_HUMAN solute carrier family 44, member 5 174 integral to membrane|plasma membrane choline transmembrane transporter activity kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 61 GGTTTGCTGGGAAAAATCGCT 0.363000 24 49 0 0 0.007291 0 0 IGHV4-59 28392 broad.mit.edu 37 14 107083659 107083659 + RNA SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr14:107083659G>A ENST00000455737.1 - 0 66 CTGCCACCAGGAGAAGGAAGA 0.502000 13 33 0 0 0.001855 0 0 ARHGAP32 9743 broad.mit.edu 37 11 128842523 128842523 + Missense_Mutation SNP C C A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr11:128842523C>A ENST00000310343.9 - 21 3835 c.3836G>T c.(3835-3837)aGc>aTc p.S1279I ARHGAP32_ENST00000524655.1_3'UTR|ARHGAP32_ENST00000527272.1_Missense_Mutation_p.S930I|ARHGAP32_ENST00000392657.3_Missense_Mutation_p.S930I NM_001142685.1 NP_001136157.1 A7KAX9 RHG32_HUMAN Rho GTPase activating protein 32 1279 cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane GTPase activator activity|phosphatidylinositol binding breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3) 60 CACATCCCAGCTGGCTTCCTT 0.562000 28 84 1.2476e-16 1.33226e-16 0.006320 1 0 ANKS1B 56899 broad.mit.edu 37 12 99145141 99145141 + Nonsense_Mutation SNP T T A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr12:99145141T>A ENST00000547776.2 - 25 3663 c.3664A>T c.(3664-3666)Aag>Tag p.K1222* ANKS1B_ENST00000549558.2_Nonsense_Mutation_p.K388*|ANKS1B_ENST00000547446.1_Nonsense_Mutation_p.K357*|ANKS1B_ENST00000547010.1_Nonsense_Mutation_p.K738*|ANKS1B_ENST00000332712.7_Nonsense_Mutation_p.K412*|ANKS1B_ENST00000549493.2_Nonsense_Mutation_p.K472*|ANKS1B_ENST00000546960.1_Nonsense_Mutation_p.K448*|ANKS1B_ENST00000546568.1_Nonsense_Mutation_p.K388*|ANKS1B_ENST00000341752.7_Nonsense_Mutation_p.K228*|ANKS1B_ENST00000550693.2_Nonsense_Mutation_p.K412*|ANKS1B_ENST00000333732.7_Nonsense_Mutation_p.K252*|ANKS1B_ENST00000549025.2_Nonsense_Mutation_p.K320*|ANKS1B_ENST00000329257.7_Nonsense_Mutation_p.K1222* NM_152788.4 NP_690001.3 Q7Z6G8 ANS1B_HUMAN ankyrin repeat and sterile alpha motif domain containing 1B 1222 Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1) 70 all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209) OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06) ACCACGGACTTGCGAATGCTA 0.498000 20 26 0 0 0.012319 0 0 CHMP7 91782 broad.mit.edu 37 8 23106782 23106782 + Missense_Mutation SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr8:23106782C>T ENST00000397677.1 + 3 1007 c.359C>T c.(358-360)tCc>tTc p.S120F CHMP7_ENST00000313219.7_Missense_Mutation_p.S120F NM_152272.3 NP_689485.1 Q8WUX9 CHMP7_HUMAN charged multivesicular body protein 7 120 cellular membrane organization|late endosome to vacuole transport cytosol|ESCRT III complex protein transporter activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1) 11 Prostate(55;0.0513) Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632) AGCTGGATCTCCTGGGGGGTT 0.542000 29 50 0 0 0.008361 0 0 TPSD1 23430 broad.mit.edu 37 16 1306943 1306943 + Silent SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr16:1306943C>T ENST00000211076.3 + 3 548 c.400C>T c.(400-402)Ctg>Ttg p.L134L TPSD1_ENST00000397534.2_Silent_p.L127L NM_012217.2 NP_036349.1 Q9BZJ3 TRYD_HUMAN tryptase delta 1 134 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|skin(1)|stomach(2)|upper_aerodigestive_tract(3) 20 Hepatocellular(780;0.00369) CCTGCTGGAGCTGGAGGAGCC 0.652000 18 15 0 0 0.007413 0 0 TRIM42 287015 broad.mit.edu 37 3 140401461 140401461 + Missense_Mutation SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr3:140401461G>A ENST00000286349.3 + 2 690 c.499G>A c.(499-501)Gag>Aag p.E167K NM_152616.4 NP_689829.3 Q8IWZ5 TRI42_HUMAN tripartite motif containing 42 167 intracellular zinc ion binding breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 CAGCCTGTGCGAGAAGTGCCT 0.602000 49 65 0 0 0.014410 0 0 CDH4 1002 broad.mit.edu 37 20 60348150 60348150 + Missense_Mutation SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr20:60348150G>A ENST00000360469.5 + 4 576 c.488G>A c.(487-489)gGg>gAg p.G163E CDH4_ENST00000543233.1_Missense_Mutation_p.G89E NM_001794.3 NP_001785.2 P55283 CADH4_HUMAN cadherin 4, type 1, R-cadherin (retinal) 163 adherens junction organization|cell junction assembly calcium ion binding NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 74 BRCA - Breast invasive adenocarcinoma(19;2.36e-08) AACGCCAACGGGCTGAGGCGG 0.657000 13 17 0 0 0.001855 0 0 ZNF337 26152 broad.mit.edu 37 20 25657189 25657189 + Silent SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr20:25657189G>A ENST00000376436.1 - 4 1274 c.735C>T c.(733-735)ttC>ttT p.F245F ZNF337_ENST00000252979.5_Silent_p.F245F|RP4-694B14.5_ENST00000455791.1_RNA|ZNF337_ENST00000538750.1_Silent_p.F213F|RP4-694B14.5_ENST00000439498.1_RNA|RP4-694B14.5_ENST00000414393.1_RNA zinc finger protein 337 breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 CCTTGAGGCTGAAGCCTCGCC 0.527000 33 47 0 0 0.010818 0 0 KIR3DL2 3812 broad.mit.edu 37 19 55363668 55363668 + Missense_Mutation SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr19:55363668C>T ENST00000326321.3 + 3 319 c.286C>T c.(286-288)Cgg>Tgg p.R96W KIR3DL2_ENST00000270442.5_Missense_Mutation_p.R96W|KIR3DL1_ENST00000402254.2_Intron NM_006737.3 NP_006728.2 P43630 KI3L2_HUMAN killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 2 96 Ig-like C2-type 1. cellular defense response|regulation of immune response integral to plasma membrane receptor activity p.R96W(1) breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 23 GBM - Glioblastoma multiforme(193;0.0192) CTACAGATGTCGGGGTTCACG 0.582000 34 57 0 0 0.014410 0 0 ZNF395 55893 broad.mit.edu 37 8 28218600 28218600 + Silent SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr8:28218600G>A ENST00000344423.5 - 2 173 c.42C>T c.(40-42)ctC>ctT p.L14L ZNF395_ENST00000523202.1_Silent_p.L14L|ZNF395_ENST00000523095.1_Silent_p.L14L NM_018660.2 NP_061130.1 Q9H8N7 ZN395_HUMAN zinc finger protein 395 14 transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding cervix(1)|endometrium(1)|kidney(5)|large_intestine(6)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 Ovarian(32;2.06e-05) KIRC - Kidney renal clear cell carcinoma(542;0.102)|Kidney(114;0.123)|Colorectal(74;0.142) GGGCTCCCAGGAGGGACCGCT 0.687000 32 39 0 0 0.013726 0 0 ALPK3 57538 broad.mit.edu 37 15 85370756 85370756 + Missense_Mutation SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr15:85370756C>T ENST00000258888.5 + 3 997 c.830C>T c.(829-831)aCc>aTc p.T277I NM_020778.4 NP_065829.3 Q96L96 ALPK3_HUMAN alpha-kinase 3 277 heart development nucleus ATP binding|protein serine/threonine kinase activity NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 81 BRCA - Breast invasive adenocarcinoma(143;0.0587) ACAGAGGAGACCCAGCCGCTA 0.552000 20 31 0 0 0.007413 0 0 PTGIS 5740 broad.mit.edu 37 20 48129705 48129705 + Missense_Mutation SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr20:48129705C>T ENST00000244043.4 - 8 1147 c.1118G>A c.(1117-1119)cGa>cAa p.R373Q PTGIS_ENST00000478971.1_5'UTR NM_000961.3 NP_000952.1 Q16647 PTGIS_HUMAN prostaglandin I2 (prostacyclin) synthase 373 hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|prostaglandin-I synthase activity endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|ovary(3)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1) 27 BRCA - Breast invasive adenocarcinoma(12;2.37e-05)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166) Phenylbutazone(DB00812) GTTGAATTCTCGCCCGTCTGC 0.602000 36 51 0 0 0.010771 0 0 PCDHA5 56143 broad.mit.edu 37 5 140203161 140203161 + Missense_Mutation SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr5:140203161G>A ENST00000529859.1 + 1 1801 c.1801G>A c.(1801-1803)Ggc>Agc p.G601S PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000378126.3_Missense_Mutation_p.G601S|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Missense_Mutation_p.G601S NM_018908.2 NP_061731.1 NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3) 60 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCCTGATTCGGGCTACAACGC 0.672000 31 13 0 0 0.009535 0 0 MPHOSPH9 10198 broad.mit.edu 37 12 123687198 123687198 + Missense_Mutation SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr12:123687198G>A ENST00000606320.1 - 10 1960 c.1754C>T c.(1753-1755)tCc>tTc p.S585F MPHOSPH9_ENST00000392425.3_Missense_Mutation_p.S433F|MPHOSPH9_ENST00000302349.5_Missense_Mutation_p.S433F|MPHOSPH9_ENST00000541076.2_Missense_Mutation_p.S555F Q99550 MPP9_HUMAN M-phase phosphoprotein 9 433 M phase of mitotic cell cycle centriole|Golgi membrane NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(18)|prostate(2)|skin(1) 33 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000182)|Epithelial(86;0.00046)|BRCA - Breast invasive adenocarcinoma(302;0.169) ATCTTCCAAGGAAGTCAATGA 0.393000 18 25 0 0 0.007413 0 0 BNIP3P1 319138 broad.mit.edu 37 14 28733748 28733748 + RNA SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr14:28733748C>T ENST00000550043.1 + 0 153 GCCGCAGTTGCCCTCGGGCGC 0.687000 8 5 0 0 0.003080 0 0 ST6GALNAC2 10610 broad.mit.edu 37 17 74562237 74562237 + Silent SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr17:74562237G>A ENST00000225276.5 - 9 1393 c.1074C>T c.(1072-1074)gcC>gcT p.A358A NM_006456.2 NP_006447.2 Q9UJ37 SIA7B_HUMAN ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 2 358 protein glycosylation integral to Golgi membrane sialyltransferase activity NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 11 CCCTCCACAGGGCAGCTTCCA 0.507000 47 37 0 0 0.014410 0 0 COBL 23242 broad.mit.edu 37 7 51096202 51096202 + Missense_Mutation SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr7:51096202G>A ENST00000395542.2 - 12 3021 c.2837C>T c.(2836-2838)tCc>tTc p.S946F COBL_ENST00000265136.7_Missense_Mutation_p.S864F O75128 COBL_HUMAN cordon-bleu WH2 repeat protein 864 NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 65 Glioma(55;0.08) ATACTGGCTGGACGTTCTTCT 0.572000 44 71 0 0 0.010771 0 0 ARHGAP44 9912 broad.mit.edu 37 17 12883419 12883419 + Missense_Mutation SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr17:12883419G>A ENST00000379672.5 + 19 2108 c.1808G>A c.(1807-1809)gGa>gAa p.G603E ARHGAP44_ENST00000262444.9_Missense_Mutation_p.G603E|ARHGAP44_ENST00000340825.3_Missense_Mutation_p.G597E NM_014859.4 NP_055674.4 Q17R89 RHG44_HUMAN Rho GTPase activating protein 44 603 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|urinary_tract(1) 31 GCACAGAAAGGAAGTCCAGGC 0.592000 7 23 0 0 0.001984 0 0 FAT4 79633 broad.mit.edu 37 4 126241707 126241707 + Missense_Mutation SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr4:126241707G>A ENST00000394329.3 + 1 4154 c.4141G>A c.(4141-4143)Gaa>Aaa p.E1381K NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 1381 Cadherin 13. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 ACTGGACTTTGAAACACAGTC 0.368000 34 82 0 0 0.013726 0 0 FAM189B 10712 broad.mit.edu 37 1 155220423 155220423 + Missense_Mutation SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr1:155220423G>A ENST00000361361.2 - 9 1663 c.1154C>T c.(1153-1155)cCc>cTc p.P385L FAM189B_ENST00000350210.2_Missense_Mutation_p.P289L|FAM189B_ENST00000368368.3_Missense_Mutation_p.P367L NM_006589.2 NP_006580.2 P81408 F189B_HUMAN family with sequence similarity 189, member B 385 integral to membrane WW domain binding breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 23 TTCCTCGAAGGGGCCCCGCAG 0.701000 13 21 0 0 0.004990 0 0 CALCRL 10203 broad.mit.edu 37 2 188211048 188211048 + Missense_Mutation SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr2:188211048G>A ENST00000409998.1 - 16 2030 c.1249C>T c.(1249-1251)Cgt>Tgt p.R417C CALCRL_ENST00000410068.1_Missense_Mutation_p.R417C|AC007319.1_ENST00000453517.1_RNA|AC007319.1_ENST00000412276.1_RNA|CALCRL_ENST00000392370.3_Missense_Mutation_p.R417C Q16602 CALRL_HUMAN calcitonin receptor-like 417 integral to plasma membrane endometrium(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(1) 32 OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(96;0.227) GACGCACTACGAAGAGCTTCT 0.378000 12 21 0 0 0.013537 0 0 OR1K1 392392 broad.mit.edu 37 9 125563054 125563054 + Missense_Mutation SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr9:125563054C>T ENST00000277309.2 + 1 685 c.653C>T c.(652-654)tCc>tTc p.S218F NM_080859.1 NP_543135.1 Q8NGR3 OR1K1_HUMAN olfactory receptor, family 1, subfamily K, member 1 218 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|large_intestine(8)|lung(2)|ovary(1)|skin(4)|stomach(1) 17 ATCCTCGCCTCCTATGGGGCC 0.652000 29 25 0 0 0.006320 0 0 SERTAD4 56256 broad.mit.edu 37 1 210415669 210415669 + Missense_Mutation SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr1:210415669G>A ENST00000367012.3 + 4 1288 c.1058G>A c.(1057-1059)gGa>gAa p.G353E NM_019605.3 NP_062551.1 Q9NUC0 SRTD4_HUMAN SERTA domain containing 4 353 protein binding endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1) 14 OV - Ovarian serous cystadenocarcinoma(81;0.0237)|all cancers(67;0.127) TGCAGCAAAGGAAGTAAAATA 0.368000 17 30 0 0 0.010504 0 0 XIRP2 129446 broad.mit.edu 37 2 168107566 168107566 + Missense_Mutation SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr2:168107566C>T ENST00000409195.1 + 9 9753 c.9664C>T c.(9664-9666)Cgt>Tgt p.R3222C XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.R3000C|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.R3222C|XIRP2_ENST00000409043.1_Intron NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 3047 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 TGCAACACTTCGTCGTCAAAT 0.448000 25 45 0 0 0.003330 0 0 IGDCC3 9543 broad.mit.edu 37 15 65628235 65628235 + Missense_Mutation SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr15:65628235G>A ENST00000327987.4 - 3 720 c.469C>T c.(469-471)Cgc>Tgc p.R157C NM_004884.3 NP_004875.2 Q8IVU1 IGDC3_HUMAN immunoglobulin superfamily, DCC subclass, member 3 157 Ig-like C2-type 2. breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 30 CACTGGAAGCGGGCCACACCA 0.592000 40 46 0 0 0.007835 0 0 CCDC82 79780 broad.mit.edu 37 11 96117829 96117829 + Missense_Mutation SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr11:96117829C>T ENST00000278520.5 - 3 511 c.83G>A c.(82-84)cGa>cAa p.R28Q CCDC82_ENST00000542662.1_Missense_Mutation_p.R28Q|CCDC82_ENST00000423339.2_Missense_Mutation_p.R28Q Q8N4S0 CCD82_HUMAN coiled-coil domain containing 82 28 protein binding p.R28Q(1) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(1) 19 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123) BRCA - Breast invasive adenocarcinoma(274;0.154) TCTTTTAGTTCGCCTCCAATC 0.353000 30 37 0 0 0.007291 0 0 MYO1A 4640 broad.mit.edu 37 12 57424938 57424938 + Silent SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr12:57424938C>T ENST00000442789.2 - 24 2657 c.2370G>A c.(2368-2370)ggG>ggA p.G790G MYO1A_ENST00000544473.1_Silent_p.G628G|MYO1A_ENST00000300119.3_Silent_p.G790G NM_001256041.1 NP_001242970.1 Q9UBC5 MYO1A_HUMAN myosin IA 790 sensory perception of sound|vesicle localization brush border|cortical actin cytoskeleton|filamentous actin|lateral plasma membrane|microvillus|myosin complex actin binding|ATP binding|calmodulin binding|motor activity breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3) 50 TGTTCTTCAGCCCCAGTAGGA 0.527000 35 57 0 0 0.004289 0 0 OR2A7 401427 broad.mit.edu 37 7 143956032 143956032 + Silent SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr7:143956032C>T ENST00000493325.1 - 1 783 c.690G>A c.(688-690)agG>agA p.R230R RP4-798C17.6_ENST00000487102.1_RNA|RP4-798C17.6_ENST00000461843.1_RNA|RP4-798C17.6_ENST00000476560.1_RNA|ARHGEF35_ENST00000543357.1_Intron|RP4-545C24.1_ENST00000460955.1_RNA|RP4-798C17.6_ENST00000463561.1_RNA|RP4-798C17.6_ENST00000478806.1_RNA|RP4-798C17.6_ENST00000489488.1_RNA NM_001005328.1 NP_001005328.1 Q96R45 OR2A7_HUMAN olfactory receptor, family 2, subfamily A, member 7 230 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|large_intestine(1)|lung(3)|ovary(1) 6 Melanoma(164;0.14) TCTGAACTTCCCTTGATTGGA 0.478000 42 77 0 0 0.014410 0 0 GLRA3 8001 broad.mit.edu 37 4 175603979 175603979 + Missense_Mutation SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr4:175603979C>T ENST00000274093.3 - 6 1188 c.686G>A c.(685-687)cGa>cAa p.R229Q GLRA3_ENST00000340217.5_Missense_Mutation_p.R229Q NM_006529.2 NP_006520.2 O75311 GLRA3_HUMAN glycine receptor, alpha 3 229 synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity p.R229P(1) endometrium(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1) 35 Prostate(90;0.00601)|Breast(14;0.0091)|Melanoma(52;0.00959)|Renal(120;0.0183)|all_neural(102;0.0891)|all_hematologic(60;0.107) all cancers(43;4.99e-18)|Epithelial(43;1.18e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.88e-09)|STAD - Stomach adenocarcinoma(60;0.00442)|GBM - Glioblastoma multiforme(59;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0421) Glycine(DB00145) AGTGCAGTATCGTAAATCTTT 0.373000 24 19 0 0 0.004656 0 0 KRTAP5-4 387267 broad.mit.edu 37 11 1642985 1642985 + Silent SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr11:1642985G>A ENST00000399682.1 - 1 383 c.339C>T c.(337-339)tcC>tcT p.S113S NM_001012709.1 NP_001012727.1 Q6L8H1 KRA54_HUMAN keratin associated protein 5-4 113 9 X 4 AA repeats of C-C-X-P. keratin filament NS(1)|endometrium(9)|kidney(2)|lung(2)|pancreas(1)|prostate(3)|skin(2) 20 all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082) AACCCCCACAGGAGCCACAGC 0.667000 35 66 0 0 0.004878 0 0 ASAP2 8853 broad.mit.edu 37 2 9528618 9528618 + Missense_Mutation SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr2:9528618C>T ENST00000281419.3 + 22 2666 c.2326C>T c.(2326-2328)Cct>Tct p.P776S ASAP2_ENST00000315273.4_Missense_Mutation_p.P776S|ASAP2_ENST00000491413.1_3'UTR NM_003887.2 NP_003878.1 O43150 ASAP2_HUMAN ArfGAP with SH3 domain, ankyrin repeat and PH domain 2 776 Pro-rich. regulation of ARF GTPase activity Golgi cisterna membrane|plasma membrane ARF GTPase activator activity|protein binding|zinc ion binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 36 TCCCGCCCAGCCTGCAGCCCC 0.587000 16 20 0 0 0.004990 0 0 SLFN13 146857 broad.mit.edu 37 17 33772081 33772081 + Missense_Mutation SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr17:33772081G>A ENST00000285013.6 - 3 894 c.619C>T c.(619-621)Cct>Tct p.P207S SLFN13_ENST00000360502.2_Intron|SLFN13_ENST00000542635.1_Missense_Mutation_p.P207S|SLFN13_ENST00000533791.1_Missense_Mutation_p.P207S|SLFN13_ENST00000526861.1_Missense_Mutation_p.P207S|SLFN13_ENST00000534689.1_Intron NM_144682.5 NP_653283.3 Q68D06 SLN13_HUMAN schlafen family member 13 207 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) GGAGACTCAGGAAAAGATAGG 0.328000 40 50 0 0 0.006999 0 0 RPTN 126638 broad.mit.edu 37 1 152127305 152127305 + Missense_Mutation SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr1:152127305C>T ENST00000316073.3 - 3 2334 c.2270G>A c.(2269-2271)cGa>cAa p.R757Q NM_001122965.1 NP_001116437.1 Q6XPR3 RPTN_HUMAN repetin 757 Gln-rich. proteinaceous extracellular matrix calcium ion binding breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 59 TTGCCTGTCTCGTCTCTGATG 0.512000 173 219 0 0 0.014410 0 0 MAGEA10 4109 broad.mit.edu 37 X 151303095 151303095 + Missense_Mutation SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chrX:151303095G>A ENST00000370323.4 - 4 1314 c.998C>T c.(997-999)gCt>gTt p.A333V RP11-1007I13.4_ENST00000509345.2_RNA|MAGEA10_ENST00000244096.3_Missense_Mutation_p.A333V NM_001251828.1|NM_021048.4 NP_001238757.1|NP_066386.2 P43363 MAGAA_HUMAN melanoma antigen family A, 10 333 MAGE. endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 Acute lymphoblastic leukemia(192;6.56e-05) ATCTTTCAAAGCCTCCTCATA 0.488000 61 13 0 0 0.014410 0 0 AOC3 8639 broad.mit.edu 37 17 41004371 41004371 + Silent SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr17:41004371C>T ENST00000308423.2 + 1 1171 c.1011C>T c.(1009-1011)ttC>ttT p.F337F NM_003734.2 NP_003725.1 Q16853 AOC3_HUMAN amine oxidase, copper containing 3 337 amine metabolic process|cell adhesion|inflammatory response cell surface|integral to membrane|plasma membrane aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|protein homodimerization activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity breast(1)|central_nervous_system(4)|endometrium(4)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|skin(8) 41 Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.156) Hydralazine(DB01275)|Phenelzine(DB00780) TGTGGACTTTCTCCTTTGGCC 0.577000 28 26 0 0 0.006320 0 0 FAT2 2196 broad.mit.edu 37 5 150922489 150922489 + Silent SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr5:150922489C>T ENST00000261800.5 - 9 8211 c.8199G>A c.(8197-8199)gaG>gaA p.E2733E NM_001447.2 NP_001438.1 Q9NYQ8 FAT2_HUMAN FAT atypical cadherin 2 2733 Cadherin 24. epithelial cell migration|homophilic cell adhesion cell-cell adherens junction|integral to membrane|nucleus calcium ion binding NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1) 196 Medulloblastoma(196;0.0912)|all_hematologic(541;0.104) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) CCTTGTTGCTCTCAGGTGTAG 0.507000 42 8 0 0 0.014410 0 0 KLF7 8609 broad.mit.edu 37 2 208030259 208030259 + Missense_Mutation SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr2:208030259C>T ENST00000309446.6 - 1 410 c.34G>A c.(34-36)Gag>Aag p.E12K KLF7_ENST00000421199.1_Intron|KLF7_ENST00000458272.1_Missense_Mutation_p.E12K|KLF7_ENST00000423015.1_Missense_Mutation_p.E12K NM_003709.3 NP_003700.1 O75840 KLF7_HUMAN Kruppel-like factor 7 (ubiquitous) 12 regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|zinc ion binding breast(1)|central_nervous_system(1)|large_intestine(3)|liver(1)|lung(4)|skin(1) 11 LUSC - Lung squamous cell carcinoma(261;0.0856)|Lung(261;0.166)|Epithelial(149;0.173) AGTTGTAGCTCCTGGAATATA 0.507000 49 73 0 0 0.014410 0 0 RANBP10 57610 broad.mit.edu 37 16 67763685 67763685 + Silent SNP G G T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr16:67763685G>T ENST00000317506.3 - 9 1160 c.1045C>A c.(1045-1047)Cga>Aga p.R349R RANBP10_ENST00000536251.1_Silent_p.R120R|RANBP10_ENST00000448631.2_Silent_p.R293R|RANBP10_ENST00000411657.2_Silent_p.R232R|RANBP10_ENST00000602677.1_Silent_p.R349R NM_020850.1 NP_065901.1 Q6VN20 RBP10_HUMAN RAN binding protein 10 349 Ser-rich. endometrium(5)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|skin(1) 23 Acute lymphoblastic leukemia(13;4.34e-06)|all_hematologic(13;0.000643)|Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.00522)|Epithelial(162;0.025)|all cancers(182;0.157) CTCAAACTTCGGACCTCACTG 0.602000 63 70 2.60599e-31 2.8079e-31 0.014410 1 0 DSCAM 1826 broad.mit.edu 37 21 41648169 41648169 + Missense_Mutation SNP A A C TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr21:41648169A>C ENST00000400454.1 - 11 2688 c.2211T>G c.(2209-2211)atT>atG p.I737M NM_001389.3 NP_001380.2 O60469 DSCAM_HUMAN Down syndrome cell adhesion molecule 737 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) CATTTAGGGCAATTGGCTGGA 0.498000 17 23 0 0 0.004990 0 0 RNASE9 390443 broad.mit.edu 37 14 21025022 21025022 + Silent SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr14:21025022G>A ENST00000557068.1 - 4 1932 c.207C>T c.(205-207)gtC>gtT p.V69V RNASE9_ENST00000554964.1_Silent_p.V69V|RNASE9_ENST00000553541.1_Silent_p.V69V|RNASE9_ENST00000556208.1_Silent_p.V74V|RNASE9_ENST00000555230.1_Silent_p.V69V|RNASE9_ENST00000429244.2_Silent_p.V69V|RNASE9_ENST00000553706.1_Silent_p.V74V|RNASE9_ENST00000557209.1_Silent_p.V74V|RNASE9_ENST00000404716.3_Silent_p.V74V|RNASE9_ENST00000338904.3_Silent_p.V69V P60153 RNAS9_HUMAN ribonuclease, RNase A family, 9 (non-active) 69 extracellular region nucleic acid binding|pancreatic ribonuclease activity haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|ovary(2)|urinary_tract(1) 8 all_cancers(95;0.00238) Epithelial(56;3.32e-06)|all cancers(55;2.46e-05) GBM - Glioblastoma multiforme(265;0.0141) GTTCAATAAGGACACGTCTTT 0.373000 43 69 0 0 0.011902 0 0 SRL 6345 broad.mit.edu 37 16 4242246 4242246 + Missense_Mutation SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr16:4242246C>T ENST00000399609.3 - 6 1342 c.1330G>A c.(1330-1332)Ggt>Agt p.G444S SRL_ENST00000537996.1_Missense_Mutation_p.G402S NM_001098814.1 NP_001092284.1 Q86TD4 SRCA_HUMAN sarcalumenin 903 Acidic domain, probably binds calcium (By similarity). sarcoplasmic reticulum lumen GTP binding|GTPase activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(3) 21 CCGAGGCTACCCAGGAGGCCC 0.542000 34 62 0 0 0.004289 0 0 C6 729 broad.mit.edu 37 5 41176592 41176592 + Missense_Mutation SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr5:41176592C>T ENST00000263413.3 - 8 1417 c.1153G>A c.(1153-1155)Gaa>Aaa p.E385K C6_ENST00000337836.5_Missense_Mutation_p.E385K|C6_ENST00000475349.1_5'UTR NM_001115131.1 NP_001108603.2 P13671 CO6_HUMAN complement component 6 385 MACPF. complement activation, classical pathway|cytolysis|innate immune response membrane attack complex protein binding central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2) 96 Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157) TTCTTTAGTTCCTCACTGCTA 0.393000 12 1 0 0 0.010729 0 0 C10orf54 64115 broad.mit.edu 37 10 73511434 73511434 + Missense_Mutation SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr10:73511434G>A ENST00000394957.3 - 6 947 c.889C>T c.(889-891)Cca>Tca p.P297S CDH23_ENST00000224721.6_Intron NM_022153.1 NP_071436.1 Q9H7M9 GI24_HUMAN chromosome 10 open reading frame 54 297 integral to membrane receptor activity breast(1)|central_nervous_system(2)|endometrium(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 9 CCCAGGGATGGGAAGAAGACG 0.627000 23 30 0 0 0.004656 0 0 ZNF92 168374 broad.mit.edu 37 7 64864771 64864771 + Missense_Mutation SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr7:64864771G>A ENST00000328747.7 + 4 1943 c.1744G>A c.(1744-1746)Gag>Aag p.E582K ZNF92_ENST00000431504.1_Missense_Mutation_p.E506K|ZNF92_ENST00000357512.2_Missense_Mutation_p.E550K|ZNF92_ENST00000450302.2_Missense_Mutation_p.E513K NM_152626.2 NP_689839.1 Q03936 ZNF92_HUMAN zinc finger protein 92 582 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(2)|endometrium(1)|large_intestine(3)|lung(4)|pancreas(1)|skin(1)|stomach(1) 13 Lung NSC(55;0.159) TTATACTAAAGAGAAACTACA 0.348000 22 48 0 0 0.003330 0 0 IL1F10 84639 broad.mit.edu 37 2 113832361 113832361 + Silent SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr2:113832361G>A ENST00000393197.2 + 3 601 c.180G>A c.(178-180)ggG>ggA p.G60G IL1F10_ENST00000341010.2_Silent_p.G60G|IL1F10_ENST00000337569.3_Silent_p.G60G NM_032556.5 NP_115945.4 Q8WWZ1 IL1FA_HUMAN interleukin 1 family, member 10 (theta) 60 extracellular space cytokine activity|interleukin-1 receptor antagonist activity endometrium(1)|lung(6)|ovary(1) 8 TTTTCCTGGGGATCCAGGGAG 0.582000 41 47 0 0 0.007835 0 0 FAT3 120114 broad.mit.edu 37 11 92085899 92085899 + Silent SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr11:92085899C>T ENST00000298047.6 + 1 638 c.621C>T c.(619-621)caC>caT p.H207H FAT3_ENST00000409404.2_Silent_p.H207H|FAT3_ENST00000525166.1_Silent_p.H57H|FAT3_ENST00000541502.1_Silent_p.H207H Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 207 Cadherin 2. 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) TTTCAGTTCACCCCACGAGTG 0.408000 TCGA Ovarian(4;0.039) 205 250 0 0 0.014410 0 0 CDH22 64405 broad.mit.edu 37 20 44841652 44841652 + Silent SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr20:44841652G>A ENST00000372262.3 - 5 1414 c.1014C>T c.(1012-1014)gcC>gcT p.A338A CDH22_ENST00000474438.1_5'UTR|CDH22_ENST00000537909.1_Silent_p.A338A NM_021248.1 NP_067071.1 Q9UJ99 CAD22_HUMAN cadherin 22, type 2 338 Cadherin 3. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3) 44 Myeloproliferative disorder(115;0.0122) CTACGATGATGGCCTCCTGAG 0.607000 14 31 0 0 0.004990 0 0 C14orf105 55195 broad.mit.edu 37 14 57960231 57960231 + Nonsense_Mutation SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr14:57960231C>T ENST00000216445.3 - 1 339 c.203G>A c.(202-204)tGg>tAg p.W68* C14orf105_ENST00000422976.2_Nonsense_Mutation_p.W68*|C14orf105_ENST00000526336.1_Nonsense_Mutation_p.W68*|C14orf105_ENST00000534126.1_Nonsense_Mutation_p.W68* NM_018168.2 NP_060638.2 Q9NVL8 CN105_HUMAN chromosome 14 open reading frame 105 68 breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1) 11 TCTTCCATACCAGTTTTCTTG 0.403000 4 88 0 0 0.009096 0 0 LGSN 51557 broad.mit.edu 37 6 63990574 63990574 + Silent SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr6:63990574C>T ENST00000370657.4 - 4 915 c.882G>A c.(880-882)agG>agA p.R294R LGSN_ENST00000370658.5_Intron Q5TDP6 LGSN_HUMAN lengsin, lens protein with glutamine synthetase domain 294 glutamine biosynthetic process glutamate-ammonia ligase activity NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 L-Glutamic Acid(DB00142) AATTATATTTCCTTGCCACTT 0.418000 21 21 0 0 0.010504 0 0 KRT76 51350 broad.mit.edu 37 12 53164827 53164827 + Silent SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr12:53164827C>T ENST00000332411.2 - 7 1493 c.1440G>A c.(1438-1440)gtG>gtA p.V480V NM_015848.4 NP_056932.2 Q01546 K22O_HUMAN keratin 76 480 Coil 2.|Rod. cytoskeleton organization keratin filament structural molecule activity breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 TGGCAATCTCCACATCCAGGG 0.552000 22 41 0 0 0.014323 0 0 COL5A1 1289 broad.mit.edu 37 9 137702118 137702118 + Silent SNP G G T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr9:137702118G>T ENST00000371817.3 + 44 3906 c.3492G>T c.(3490-3492)ccG>ccT p.P1164P NM_000093.3|NM_001278074.1 NP_000084.3|NP_001265003.1 P20908 CO5A1_HUMAN collagen, type V, alpha 1 1164 Triple-helical region. axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells collagen type V heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 115 Myeloproliferative disorder(178;0.0341) all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131) TCGGGGAGCCGGGGCAGAAAG 0.592000 47 55 5.57489e-27 5.99063e-27 0.014410 1 0 KCNB2 9312 broad.mit.edu 37 8 73848639 73848639 + Missense_Mutation SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr8:73848639C>T ENST00000523207.1 + 3 1637 c.1049C>T c.(1048-1050)tCc>tTc p.S350F NM_004770.2 NP_004761.2 Q92953 KCNB2_HUMAN potassium voltage-gated channel, Shab-related subfamily, member 2 350 regulation of smooth muscle contraction voltage-gated potassium channel complex delayed rectifier potassium channel activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1) 85 Breast(64;0.137) Epithelial(68;0.105) ATGATATTTTCCAGCCTGGTA 0.473000 58 45 0 0 0.014410 0 0 CYP2A13 1553 broad.mit.edu 37 19 41600158 41600158 + Missense_Mutation SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr19:41600158C>T ENST00000330436.3 + 7 982 c.982C>T c.(982-984)Cat>Tat p.H328Y NM_000766.4 NP_000757.2 Q16696 CP2AD_HUMAN cytochrome P450, family 2, subfamily A, polypeptide 13 328 xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|heme binding breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2) 42 Clomipramine(DB01242)|Nicotine(DB00184) AGCCAAGGTCCATGAGGAGAT 0.537000 29 28 0 0 0.006320 0 0 SLC22A15 55356 broad.mit.edu 37 1 116562312 116562312 + Missense_Mutation SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr1:116562312G>A ENST00000369503.4 + 3 540 c.410G>A c.(409-411)gGa>gAa p.G137E SLC22A15_ENST00000369502.1_Missense_Mutation_p.G137E NM_018420.2 NP_060890.2 Q8IZD6 S22AF_HUMAN solute carrier family 22, member 15 137 ion transport integral to membrane transmembrane transporter activity endometrium(1)|large_intestine(2)|lung(12)|prostate(1)|urinary_tract(1) 17 Lung SC(450;0.184) all_cancers(81;3.17e-06)|all_epithelial(167;2.32e-06)|all_lung(203;9.81e-06)|Lung NSC(69;5.94e-05) Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12) GATCGCTTCGGAAGGAAAAAA 0.383000 15 17 0 0 0.003163 0 0 IL36B 27177 broad.mit.edu 37 2 113785610 113785610 + Missense_Mutation SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr2:113785610G>A ENST00000327407.2 - 5 451 c.344C>T c.(343-345)tCt>tTt p.S115F IL36B_ENST00000259213.4_Intron NM_173178.1 NP_775270.1 Q9NZH7 IL36B_HUMAN interleukin 36, beta 61 immune response extracellular space cytokine activity|interleukin-1 receptor binding kidney(1)|ovary(1)|pancreas(1) 3 CTGAAAGACAGAAGTGGAGCC 0.463000 21 21 0 0 0.014323 0 0 NBPF1 55672 broad.mit.edu 37 1 16918441 16918441 + Missense_Mutation SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr1:16918441G>A ENST00000430580.2 - 7 963 c.76C>T c.(76-78)Ccc>Tcc p.P26S NM_017940.3 NP_060410.2 Q3BBV0 NBPF1_HUMAN neuroblastoma breakpoint family, member 1 26 cytoplasm UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179) GCCAGCTGGGGGCGCAATTTC 0.498000 215 1097 0 0 0.014410 0 0 CPA6 57094 broad.mit.edu 37 8 68658271 68658271 + Missense_Mutation SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr8:68658271G>A ENST00000297770.4 - 1 309 c.94C>T c.(94-96)Ctt>Ttt p.L32F CPA6_ENST00000518549.1_Missense_Mutation_p.L32F|CPA6_ENST00000297769.4_5'UTR NM_020361.4 NP_065094.3 Q8N4T0 CBPA6_HUMAN carboxypeptidase A6 32 proteolysis proteinaceous extracellular matrix metallocarboxypeptidase activity|zinc ion binding NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(5) 26 Epithelial(68;0.04)|OV - Ovarian serous cystadenocarcinoma(28;0.0593)|all cancers(69;0.136) TTGTTATAAAGGTGGCTGTGC 0.532000 19 21 0 0 0.012319 0 0 MRGPRX4 117196 broad.mit.edu 37 11 18195625 18195625 + Silent SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr11:18195625C>T ENST00000314254.3 + 1 1242 c.822C>T c.(820-822)ttC>ttT p.F274F RP11-113D6.6_ENST00000527671.1_Intron NM_054032.3 NP_473373.2 Q96LA9 MRGX4_HUMAN MAS-related GPR, member X4 274 integral to membrane|plasma membrane G-protein coupled receptor activity central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 32 TTTACTTCTTCGTGGGCTCCT 0.488000 44 54 0 0 0.014410 0 0 TTN 7273 broad.mit.edu 37 2 179614249 179614249 + Missense_Mutation SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr2:179614249G>A ENST00000360870.5 - 46 13100 c.12878C>T c.(12877-12879)cCc>cTc p.P4293L TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000591111.1_Intron|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron NM_133379.3 NP_596870.2 Q8WZ42 TITIN_HUMAN titin 426 Ig-like 23. 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) GGGAGTAAAGGGACCAGCTGG 0.393000 18 37 0 0 0.006122 0 0 CFAP54 144535 broad.mit.edu 37 12 97082754 97082754 + Silent SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr12:97082754C>T ENST00000524981.3 + 10 1428 c.1428C>T c.(1426-1428)ctC>ctT p.L476L Q6ZTY8 CL063_HUMAN 450 breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2) 54 CTGCGTTACTCTTTCAGGTAA 0.284000 22 37 0 0 0.002780 0 0 OR51T1 401665 broad.mit.edu 37 11 4903218 4903218 + Missense_Mutation SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr11:4903218C>T ENST00000380378.1 + 1 170 c.170C>T c.(169-171)tCc>tTc p.S57F MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron|OR51T1_ENST00000322049.1_Missense_Mutation_p.S30F NM_001004759.1 NP_001004759.1 Q8NGJ9 O51T1_HUMAN olfactory receptor, family 51, subfamily T, member 1 30 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 34 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19) GTCTGGATCTCCATTCCAGTC 0.453000 44 65 0 0 0.014410 0 0 TSSC2 650368 broad.mit.edu 37 11 3427845 3427845 + RNA SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr11:3427845C>T ENST00000529482.1 + 0 962 CTTCAAGTGGCAGGAGCAGAA 0.587000 5 31 0 0 0.000602 0 0 ZNF823 55552 broad.mit.edu 37 19 11832982 11832982 + Missense_Mutation SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr19:11832982G>A ENST00000341191.6 - 4 1520 c.1367C>T c.(1366-1368)tCt>tTt p.S456F ZNF823_ENST00000545749.1_Missense_Mutation_p.S274F NM_001080493.2 NP_001073962.1 P16415 ZN823_HUMAN zinc finger protein 823 456 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4) 26 TTGAAAGGAAGAGAGATCACT 0.423000 HNSCC(68;0.2) 30 40 0 0 0.007291 0 0 RAN 5901 broad.mit.edu 37 12 131359257 131359257 + Silent SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr12:131359257C>T ENST00000543796.1 + 5 672 c.414C>T c.(412-414)ttC>ttT p.F138F RAN_ENST00000541630.1_Silent_p.F50F|RAN_ENST00000392369.2_Silent_p.F138F|RAN_ENST00000254675.3_Silent_p.F50F|RAN_ENST00000392367.3_Silent_p.F155F P62826 RAN_HUMAN RAN, member RAS oncogene family 138 androgen receptor signaling pathway|cell division|DNA metabolic process|mitosis|mitotic spindle organization|positive regulation of transcription, DNA-dependent|protein export from nucleus|RNA export from nucleus|viral genome transport in host cell|viral infectious cycle cytosol|melanosome|nuclear pore|nucleoplasm androgen receptor binding|chromatin binding|GTP binding|GTPase activity|transcription coactivator activity cervix(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(2) 9 all_neural(191;0.0982)|Medulloblastoma(191;0.163) Lung NSC(355;7.46e-07)|all_epithelial(31;7.36e-06) OV - Ovarian serous cystadenocarcinoma(86;9.18e-49)|Epithelial(86;1.42e-45)|all cancers(50;6.28e-40) CCATTGTCTTCCACCGAAAGA 0.383000 21 25 0 0 0.012319 0 0 DHX29 54505 broad.mit.edu 37 5 54566425 54566425 + Nonsense_Mutation SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr5:54566425G>A ENST00000251636.5 - 19 3122 c.2974C>T c.(2974-2976)Cga>Tga p.R992* RP11-506H20.1_ENST00000506435.1_RNA NM_019030.2 NP_061903.2 Q7Z478 DHX29_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 29 992 Helicase C-terminal. ATP binding|ATP-dependent helicase activity|translation initiation factor activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|lung(6)|ovary(4)|prostate(1)|skin(3)|urinary_tract(2) 46 Lung NSC(810;4.08e-05)|Breast(144;0.0544)|Prostate(74;0.183) GTGTACATTCGGAAACAGAAG 0.423000 4 57 0 0 0.001984 0 0 PCLO 27445 broad.mit.edu 37 7 82579028 82579028 + Missense_Mutation SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr7:82579028G>A ENST00000423517.2 - 6 11213 c.10876C>T c.(10876-10878)Ccc>Tcc p.P3626S PCLO_ENST00000333891.8_Missense_Mutation_p.P3626S|PCLO_ENST00000437081.1_Missense_Mutation_p.P346S NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 3557 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 GGTGAGATGGGTGAGTAAAGG 0.483000 56 62 0 0 0.014410 0 0 OR8S1 341568 broad.mit.edu 37 12 48921757 48921757 + Nonsense_Mutation SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr12:48921757G>A ENST00000310194.1 + 2 951 c.951G>A c.(949-951)tgG>tgA p.W317* OR8S1_ENST00000551654.1_3'UTR NM_001005203.2 NP_001005203.2 Q8NH09 OR8S1_HUMAN olfactory receptor, family 8, subfamily S, member 1 317 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|skin(4) 22 AGGCCAGATGGAAGAGACCAG 0.582000 17 28 0 0 0.006122 0 0 PSG3 5671 broad.mit.edu 37 19 43237134 43237134 + Missense_Mutation SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr19:43237134G>A ENST00000327495.5 - 3 695 c.511C>T c.(511-513)Cct>Tct p.P171S PSG3_ENST00000595140.1_Missense_Mutation_p.P171S NM_021016.3 NP_066296.2 Q16557 PSG3_HUMAN pregnancy specific beta-1-glycoprotein 3 171 Ig-like C2-type 1. defense response|female pregnancy extracellular region central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 36 Prostate(69;0.00682) GGAGTCTCAGGATCACAGGTT 0.522000 70 112 0 0 0.014410 0 0 CHP1 11261 broad.mit.edu 37 15 41562787 41562787 + Missense_Mutation SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr15:41562787G>A ENST00000334660.5 + 5 622 c.382G>A c.(382-384)Gaa>Aaa p.E128K CHP1_ENST00000558351.1_3'UTR|CHP1_ENST00000560397.1_Missense_Mutation_p.E128K NM_007236.4 NP_009167.1 Q99653 CHP1_HUMAN calcineurin-like EF-hand protein 1 128 EF-hand 3. potassium ion transport|small GTPase mediated signal transduction potassium channel regulator activity GGATAAAGATGAAAAGATCTC 0.413000 31 40 0 0 0.013726 0 0 NID1 4811 broad.mit.edu 37 1 236212001 236212001 + Nonsense_Mutation SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr1:236212001G>A ENST00000264187.6 - 2 596 c.514C>T c.(514-516)Cag>Tag p.Q172* NID1_ENST00000366595.3_Nonsense_Mutation_p.Q172* NM_002508.2 NP_002499.2 P14543 NID1_HUMAN nidogen 1 172 NIDO. cell-matrix adhesion basement membrane calcium ion binding p.Q172*(1) breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1) 66 Ovarian(103;0.0544)|Breast(184;0.23) all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229) OV - Ovarian serous cystadenocarcinoma(106;0.00162) Becaplermin(DB00102)|Urokinase(DB00013) TTGCCTTTCTGGTCTGGGTCC 0.562000 14 22 0 0 0.001855 0 0 TTC40 54777 broad.mit.edu 37 10 134624457 134624457 + Missense_Mutation SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr10:134624457C>T ENST00000368586.5 - 56 7680 c.7580G>A c.(7579-7581)aGg>aAg p.R2527K TTC40_ENST00000263170.5_Missense_Mutation_p.R688K NM_001200049.2 NP_001186978.2 Q8IYW2 CJ092_HUMAN tetratricopeptide repeat domain 40 688 breast(1)|endometrium(5)|lung(19)|urinary_tract(3) 28 CAGGCACCTCCTGTGCTCCAC 0.672000 4 6 0 0 0.009096 0 0 ZFPM2 23414 broad.mit.edu 37 8 106646527 106646527 + Silent SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr8:106646527G>A ENST00000407775.2 + 5 724 c.474G>A c.(472-474)ctG>ctA p.L158L ZFPM2_ENST00000517361.1_Silent_p.L26L|ZFPM2_ENST00000520492.1_Silent_p.L26L NM_012082.3 NP_036214.2 Q8WW38 FOG2_HUMAN zinc finger protein, FOG family member 2 158 blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis nucleoplasm DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 99 OV - Ovarian serous cystadenocarcinoma(57;8.28e-08) AGTGGTTGCTGGATGTGACTT 0.428000 9 13 0 0 0.008291 0 0 TECRL 253017 broad.mit.edu 37 4 65155462 65155462 + Silent SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr4:65155462G>A ENST00000381210.3 - 9 908 c.798C>T c.(796-798)ttC>ttT p.F266F TECRL_ENST00000507440.1_Silent_p.F266F NM_001010874.4 NP_001010874.2 Q5HYJ1 TECRL_HUMAN trans-2,3-enoyl-CoA reductase-like 266 lipid metabolic process cytoplasm|integral to membrane oxidoreductase activity, acting on the CH-CH group of donors endometrium(2)|kidney(5)|large_intestine(7)|lung(30)|prostate(1)|skin(1)|stomach(1) 47 TTACATTGATGAAATGATTCC 0.274000 7 3 0 0 0.008291 0 0 BAAT 570 broad.mit.edu 37 9 104125007 104125007 + Silent SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr9:104125007G>A ENST00000259407.2 - 4 1068 c.960C>T c.(958-960)ttC>ttT p.F320F BAAT_ENST00000395051.3_Silent_p.F320F NM_001127610.1|NM_001701.3 NP_001121082.1|NP_001692.1 Q14032 BAAT_HUMAN bile acid CoA: amino acid N-acyltransferase (glycine N-choloyltransferase) 320 acyl-CoA metabolic process|bile acid and bile salt transport|bile acid biosynthetic process|digestion|fatty acid metabolic process|glycine metabolic process cytosol|peroxisomal matrix carboxylesterase activity|glycine N-choloyltransferase activity|N-acyltransferase activity|palmitoyl-CoA hydrolase activity breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1) 23 Acute lymphoblastic leukemia(62;0.0559) Glycine(DB00145) CAATGAAGAGGAATTGCCCCT 0.473000 41 47 0 0 0.010771 0 0 MGAM 8972 broad.mit.edu 37 7 141755449 141755449 + Missense_Mutation SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr7:141755449G>A ENST00000475668.2 + 28 3460 c.3406G>A c.(3406-3408)Gaa>Aaa p.E1136K MGAM_ENST00000549489.2_Missense_Mutation_p.E1136K O43451 MGA_HUMAN maltase-glucoamylase (alpha-glucosidase) 1136 Glucoamylase. polysaccharide digestion|starch catabolic process apical plasma membrane|integral to membrane carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2) 13 Melanoma(164;0.0272) Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878) TGGCTTTGGGGAAACTGAGCA 0.542000 46 60 0 0 0.014410 0 0 DBX2 440097 broad.mit.edu 37 12 45410265 45410265 + Missense_Mutation SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr12:45410265G>A ENST00000332700.6 - 4 995 c.824C>T c.(823-825)cCa>cTa p.P275L NM_001004329.2 NP_001004329.2 Q6ZNG2 DBX2_HUMAN developing brain homeobox 2 275 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(3)|kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 22 Lung SC(27;0.192) Lung NSC(34;0.142) GBM - Glioblastoma multiforme(48;0.0515) TGAAGGACATGGAGAAGGGAA 0.493000 41 56 0 0 0.009718 0 0 ANKS1B 56899 broad.mit.edu 37 12 99548138 99548138 + Silent SNP A A G TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr12:99548138A>G ENST00000547776.2 - 15 2454 c.2455T>C c.(2455-2457)Ttg>Ctg p.L819L ANKS1B_ENST00000549558.2_Silent_p.L45L|ANKS1B_ENST00000547446.1_Silent_p.L14L|ANKS1B_ENST00000547010.1_Silent_p.L395L|ANKS1B_ENST00000332712.7_Silent_p.L45L|ANKS1B_ENST00000549493.2_Silent_p.L45L|ANKS1B_ENST00000546960.1_Silent_p.L45L|ANKS1B_ENST00000546568.1_Silent_p.L45L|ANKS1B_ENST00000550693.2_Silent_p.L45L|ANKS1B_ENST00000549025.2_5'UTR|ANKS1B_ENST00000329257.7_Silent_p.L819L NM_152788.4 NP_690001.3 Q7Z6G8 ANS1B_HUMAN ankyrin repeat and sterile alpha motif domain containing 1B 819 SAM 1. Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1) 70 all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209) OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06) ATGCTTTCCAACCATTGTCCC 0.512000 25 34 0 0 0.003330 0 0 MTNR1A 4543 broad.mit.edu 37 4 187454892 187454892 + Missense_Mutation SNP G G A rs150190540 TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr4:187454892G>A ENST00000307161.5 - 2 1205 c.1004C>T c.(1003-1005)cCg>cTg p.P335L RP11-215A19.2_ENST00000509111.1_Intron NM_005958.3 NP_005949.1 P48039 MTR1A_HUMAN melatonin receptor 1A 335 circadian rhythm|G-protein signaling, coupled to cyclic nucleotide second messenger|mating behavior integral to plasma membrane melatonin receptor activity breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 14 all_cancers(14;6.39e-56)|all_epithelial(14;1.48e-41)|all_lung(41;2.45e-15)|Lung NSC(41;7.26e-15)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00335)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|Renal(120;0.0183)|all_neural(102;0.202) OV - Ovarian serous cystadenocarcinoma(60;7.63e-12)|BRCA - Breast invasive adenocarcinoma(30;6.68e-07)|GBM - Glioblastoma multiforme(59;3.44e-05)|LUSC - Lung squamous cell carcinoma(40;0.000106)|STAD - Stomach adenocarcinoma(60;0.000279)|READ - Rectum adenocarcinoma(43;0.159) Melatonin(DB01065)|Ramelteon(DB00980) CAGTGGAGACGGTTTCCATTT 0.493000 42 56 0 0 0.009718 0 0 KBTBD8 84541 broad.mit.edu 37 3 67058398 67058398 + Silent SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr3:67058398C>T ENST00000295568.4 + 4 1448 c.1317C>T c.(1315-1317)acC>acT p.T439T KBTBD8_ENST00000460576.1_Silent_p.T23T|KBTBD8_ENST00000417314.2_Silent_p.T465T NM_032505.2 NP_115894.2 Q8NFY9 KBTB8_HUMAN kelch repeat and BTB (POZ) domain containing 8 465 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) GTTTCTTAACCCCCATGACTG 0.363000 33 46 0 0 0.006230 0 0 OR5L2 26338 broad.mit.edu 37 11 55595333 55595333 + Silent SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr11:55595333C>T ENST00000378397.1 + 1 639 c.639C>T c.(637-639)atC>atT p.I213I NM_001004739.1 NP_001004739.1 Q8NGL0 OR5L2_HUMAN olfactory receptor, family 5, subfamily L, member 2 213 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 59 all_epithelial(135;0.208) CCATCATGATCATCCTCACCT 0.498000 HNSCC(27;0.073) 50 47 0 0 0.014410 0 0 RPS6KA1 6195 broad.mit.edu 37 1 26877903 26877903 + Missense_Mutation SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr1:26877903G>A ENST00000374168.2 + 5 477 c.323G>A c.(322-324)cGg>cAg p.R108Q RPS6KA1_ENST00000531382.1_Missense_Mutation_p.R117Q|RPS6KA1_ENST00000526792.1_Missense_Mutation_p.R16Q|RPS6KA1_ENST00000374162.2_Missense_Mutation_p.R16Q|RPS6KA1_ENST00000374166.4_Missense_Mutation_p.R108Q|RPS6KA1_ENST00000530003.1_Missense_Mutation_p.R92Q NM_002953.3 NP_002944.2 Q15418 KS6A1_HUMAN ribosomal protein S6 kinase, 90kDa, polypeptide 1 108 Protein kinase 1. axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|caspase inhibitor activity|magnesium ion binding|protein binding|protein serine/threonine kinase activity lung(1) 1 all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234) GACCGCGTCCGGACCAAGATG 0.552000 35 7 0 0 0.004289 0 0 NPAS2 4862 broad.mit.edu 37 2 101604668 101604668 + Missense_Mutation SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr2:101604668C>T ENST00000335681.5 + 17 2042 c.1757C>T c.(1756-1758)cCa>cTa p.P586L NPAS2_ENST00000542504.1_Missense_Mutation_p.P651L NM_002518.3 NP_002509.2 Q99743 NPAS2_HUMAN neuronal PAS domain protein 2 586 central nervous system development|positive regulation of transcription from RNA polymerase II promoter|rhythmic process transcription factor complex DNA binding|Hsp90 protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity cervix(1)|endometrium(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 CCCCAACTTCCAGGGCAGATC 0.592000 37 42 0 0 0.003271 0 0 SNHG14 104472715 broad.mit.edu 37 15 25335008 25335008 + RNA SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr15:25335008C>T ENST00000546682.1 + 0 834 SNHG14_ENST00000553108.1_RNA|SNHG14_ENST00000549804.2_RNA NR_003361.1 TGGATCCCTCCTGAATGTAAG 0.493000 12 10 0 0 0.001855 0 0 DNAH17 8632 broad.mit.edu 37 17 76528651 76528651 + Silent SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr17:76528651C>T ENST00000389840.5 - 20 3151 c.3027G>A c.(3025-3027)ggG>ggA p.G1009G DNAH17_ENST00000585328.1_Silent_p.G1006G dynein, axonemal, heavy chain 17 NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 116 BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656) TGACTGCACACCCATATATCA 0.557000 12 4 0 0 0.010729 0 0 ANO4 121601 broad.mit.edu 37 12 101477456 101477456 + Splice_Site SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr12:101477456G>A ENST00000392979.3 + 15 1652 c.1290_splice c.e15-1 p.E431_splice ANO4_ENST00000550015.1_Intron|ANO4_ENST00000299222.9_Intron|ANO4_ENST00000392977.3_Splice_Site_p.E466_splice NM_178826.3 NP_849148.2 Q32M45 ANO4_HUMAN anoctamin 4 466 chloride channel complex chloride channel activity NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1) 78 TGTCCTTTAGGAAGAAATACG 0.378000 HNSCC(74;0.22) 26 43 0 0 0.005443 0 0 DNAH7 56171 broad.mit.edu 37 2 196738410 196738410 + Nonsense_Mutation SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr2:196738410G>A ENST00000312428.6 - 39 6395 c.6295C>T c.(6295-6297)Cga>Tga p.R2099* NM_018897.2 NP_061720.2 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 2099 AAA 3 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3) 205 ACTGGATTTCGACCACCACCT 0.274000 16 11 0 0 0.004990 0 0 CRTAC1 55118 broad.mit.edu 37 10 99661391 99661391 + Silent SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr10:99661391G>A ENST00000370597.3 - 8 1357 c.1002C>T c.(1000-1002)atC>atT p.I334I CRTAC1_ENST00000370591.2_Silent_p.I334I|CRTAC1_ENST00000298819.4_Silent_p.I334I NM_018058.6 NP_060528.3 Q9NQ79 CRAC1_HUMAN cartilage acidic protein 1 334 proteinaceous extracellular matrix calcium ion binding autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(6)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1) 35 Colorectal(252;0.24) Epithelial(162;2.18e-10)|all cancers(201;3.27e-09) TGGGTGAGGCGATGTCCTGGA 0.572000 21 16 0 0 0.014323 0 0 SLC14A1 6563 broad.mit.edu 37 18 43311018 43311018 + Missense_Mutation SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr18:43311018C>T ENST00000321925.4 + 4 422 c.190C>T c.(190-192)Cgg>Tgg p.R64W SLC14A1_ENST00000535474.1_Intron|SLC14A1_ENST00000591943.1_3'UTR|SLC14A1_ENST00000589700.1_Missense_Mutation_p.R64W|SLC14A1_ENST00000402943.2_5'UTR|SLC14A1_ENST00000415427.3_Missense_Mutation_p.R120W|SLC14A1_ENST00000502059.2_Intron|RP11-116O18.3_ENST00000589510.1_RNA|SLC14A1_ENST00000436407.3_Missense_Mutation_p.R120W|SLC14A1_ENST00000586142.1_Missense_Mutation_p.R64W NM_001128588.3|NM_001146036.2|NM_015865.6 NP_001122060.3|NP_001139508.2|NP_056949.4 Q13336 UT1_HUMAN solute carrier family 14 (urea transporter), member 1 64 R -> Q (in Ref. 8; ACV91713). integral to plasma membrane urea transmembrane transporter activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 21 CTGGATTCTCCGGGGCATATC 0.527000 41 57 0 0 0.013114 0 0 MGA 23269 broad.mit.edu 37 15 42041983 42041983 + Nonsense_Mutation SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr15:42041983C>T ENST00000219905.7 + 17 6359 c.6178C>T c.(6178-6180)Caa>Taa p.Q2060* MGA_ENST00000570161.1_Nonsense_Mutation_p.Q2060*|MGA_ENST00000389936.4_Nonsense_Mutation_p.Q2021*|MGA_ENST00000566586.1_Nonsense_Mutation_p.Q1851*|MGA_ENST00000545763.1_Nonsense_Mutation_p.Q1851* NM_001164273.1 NP_001157745.1 Q8IWI9 MGAP_HUMAN MGA, MAX dimerization protein 2021 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) ACATACAGATCAAGATTATAA 0.403000 41 60 0 0 0.009718 0 0 MTUS2 23281 broad.mit.edu 37 13 29600557 29600557 + Silent SNP T T A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr13:29600557T>A ENST00000431530.3 + 1 1810 c.1752T>A c.(1750-1752)ccT>ccA p.P584P NM_001033602.2 NP_001028774.2 Q5JR59 MTUS2_HUMAN microtubule associated tumor suppressor candidate 2 574 cytoplasm|microtubule microtubule binding|protein homodimerization activity NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1) 20 TTCCACCCCCTACTGATAGTG 0.537000 33 54 0 0 0.012213 0 0 GPRC6A 222545 broad.mit.edu 37 6 117127855 117127855 + Missense_Mutation SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr6:117127855G>A ENST00000310357.3 - 3 1034 c.1013C>T c.(1012-1014)tCc>tTc p.S338F GPRC6A_ENST00000368549.3_Missense_Mutation_p.S338F|GPRC6A_ENST00000530250.1_Intron NM_148963.2 NP_683766.2 Q5T6X5 GPC6A_HUMAN G protein-coupled receptor, family C, group 6, member A 338 response to amino acid stimulus G-protein coupled receptor activity autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3) 65 all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234) GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07) TTGAAGAAAGGAATGGAAAGA 0.408000 26 36 0 0 0.003954 0 0 SAMD7 344658 broad.mit.edu 37 3 169644351 169644351 + Missense_Mutation SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr3:169644351G>A ENST00000428432.2 + 6 690 c.301G>A c.(301-303)Gaa>Aaa p.E101K SAMD7_ENST00000335556.3_Missense_Mutation_p.E101K NM_182610.2 NP_872416.1 Q7Z3H4 SAMD7_HUMAN sterile alpha motif domain containing 7 101 p.E101K(1) NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 31 all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106) GACAGAAATGGAAATGTATGC 0.388000 9 17 0 0 0.010729 0 0 SLCO1A2 6579 broad.mit.edu 37 12 21457408 21457408 + Missense_Mutation SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr12:21457408G>A ENST00000307378.6 - 7 1262 c.542C>T c.(541-543)tCc>tTc p.S181F SLCO1A2_ENST00000452078.1_Missense_Mutation_p.S181F|SLCO1A2_ENST00000458504.1_Missense_Mutation_p.S49F|SLCO1A2_ENST00000390670.3_Missense_Mutation_p.S179F|SLCO1A2_ENST00000537524.1_Missense_Mutation_p.S49F NM_134431.3 NP_602307.1 P46721 SO1A2_HUMAN solute carrier organic anion transporter family, member 1A2 181 bile acid metabolic process|sodium-independent organic anion transport integral to membrane|plasma membrane bile acid transmembrane transporter activity|organic anion transmembrane transporter activity p.S181F(1) breast(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(6)|upper_aerodigestive_tract(1) 48 TTCTATATAGGAAATACCCAA 0.373000 23 22 0 0 0.012319 0 0 TPTE2 93492 broad.mit.edu 37 13 19997285 19997285 + Missense_Mutation SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr13:19997285C>T ENST00000400230.2 - 20 1530 c.1486G>A c.(1486-1488)Gaa>Aaa p.E496K TPTE2_ENST00000255310.6_Missense_Mutation_p.E419K|TPTE2_ENST00000382977.4_Missense_Mutation_p.E496K|TPTE2_ENST00000457266.2_Missense_Mutation_p.E385K|TPTE2_ENST00000382975.4_Missense_Mutation_p.E456K|TPTE2_ENST00000390680.2_Missense_Mutation_p.E419K|TPTE2_ENST00000382978.1_Missense_Mutation_p.E456K|TPTE2_ENST00000400103.2_Missense_Mutation_p.E385K Q6XPS3 TPTE2_HUMAN transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 496 C2 tensin-type. endoplasmic reticulum membrane|integral to membrane ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity p.E419*(1)|p.E496*(1) NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089) TTATCCAATTCATTTCTTGGT 0.368000 13 27 0 0 0.013537 0 0 CATSPERB 79820 broad.mit.edu 37 14 92055895 92055895 + Missense_Mutation SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr14:92055895C>T ENST00000256343.3 - 24 3095 c.2939G>A c.(2938-2940)aGg>aAg p.R980K NM_024764.2 NP_079040.2 Q9H7T0 CTSRB_HUMAN catsper channel auxiliary subunit beta 980 cell differentiation|multicellular organismal development|spermatogenesis integral to membrane NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2) 54 all_cancers(154;0.0663)|all_epithelial(191;0.236) CCAGTTGTGCCTCATGTTCAC 0.368000 18 30 0 0 0.012319 0 0 OR10A2 341276 broad.mit.edu 37 11 6891351 6891351 + Silent SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr11:6891351C>T ENST00000307322.4 + 1 428 c.366C>T c.(364-366)atC>atT p.I122I NM_001004460.1 NP_001004460.1 Q9H208 O10A2_HUMAN olfactory receptor, family 10, subfamily A, member 2 122 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(12)|urinary_tract(1) 24 Medulloblastoma(188;0.0523)|all_neural(188;0.236) Epithelial(150;4.89e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13) ACCCAGTCATCATGAACCAAA 0.512000 81 79 0 0 0.014410 0 0 FKBP5 2289 broad.mit.edu 37 6 35558992 35558992 + Missense_Mutation SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr6:35558992C>T ENST00000536438.1 - 8 986 c.671G>A c.(670-672)gGt>gAt p.G224D FKBP5_ENST00000357266.4_Missense_Mutation_p.G224D|FKBP5_ENST00000542713.1_Intron|FKBP5_ENST00000539068.1_Missense_Mutation_p.G224D|FKBP5_ENST00000540787.1_Missense_Mutation_p.G45D NM_001145775.1 NP_001139247.1 Q13451 FKBP5_HUMAN FK506 binding protein 5 224 PPIase FKBP-type 2. protein folding cytoplasm|membrane|nucleus FK506 binding|heat shock protein binding|peptidyl-prolyl cis-trans isomerase activity breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(3)|urinary_tract(2) 17 CTCTCCAAAACCATATCTGAA 0.363000 67 4 0 0 0.014410 0 0 NAALAD2 10003 broad.mit.edu 37 11 89892443 89892443 + Nonsense_Mutation SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr11:89892443G>A ENST00000534061.1 + 8 1157 c.927G>A c.(925-927)tgG>tgA p.W309* NAALAD2_ENST00000375944.3_Intron|NAALAD2_ENST00000321955.4_Intron|NAALAD2_ENST00000525171.1_Intron NM_005467.3 NP_005458.1 Q9Y3Q0 NALD2_HUMAN N-acetylated alpha-linked acidic dipeptidase 2 309 NAALADase. proteolysis integral to membrane carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2) 59 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556) ATAAGAGTTGGAAGGGAGCCC 0.363000 19 28 0 0 0.014323 0 0 TMPRSS6 164656 broad.mit.edu 37 22 37499418 37499418 + Missense_Mutation SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr22:37499418C>T ENST00000381792.2 - 2 180 c.40G>A c.(40-42)Ggg>Agg p.G14R TMPRSS6_ENST00000406725.1_Missense_Mutation_p.G14R|TMPRSS6_ENST00000406856.1_Missense_Mutation_p.G14R|TMPRSS6_ENST00000346753.3_Missense_Mutation_p.G23R|TMPRSS6_ENST00000442782.2_Missense_Mutation_p.G23R Q8IU80 TMPS6_HUMAN transmembrane protease, serine 6 23 angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis integral to membrane|intracellular|plasma membrane serine-type endopeptidase activity breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3) 40 CCTCCGTCCCCCTGCCCGCCA 0.657000 68 82 0 0 0.014410 0 0 PRF1 5551 broad.mit.edu 37 10 72358251 72358251 + Missense_Mutation SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr10:72358251G>A ENST00000441259.1 - 3 1386 c.1226C>T c.(1225-1227)cCt>cTt p.P409L PRF1_ENST00000373209.2_Missense_Mutation_p.P409L NM_001083116.1|NM_005041.4 NP_001076585.1|NP_005032.2 P14222 PERF_HUMAN perforin 1 (pore forming protein) 409 apoptosis|cellular defense response|cytolysis|defense response to tumor cell|defense response to virus|immune response to tumor cell|protein homooligomerization cytolytic granule|endosome lumen|extracellular region|integral to membrane|plasma membrane calcium ion binding|protein binding|wide pore channel activity breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(3)|urinary_tract(3) 23 CCTCTGCCGAGGGCAGCAGTC 0.667000 M """various leukaemia, lymphoma""" Type 2 familial hemophagocytic lymphohistiocytosis Familial Hemophagocytic Lymphohistiocytosis 14 19 0 0 0.001855 0 0 CACNA2D1 781 broad.mit.edu 37 7 81591339 81591339 + Splice_Site SNP A A G TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr7:81591339A>G ENST00000356860.3 - 36 3175 c.2836_splice c.e36-1 p.V946_splice CACNA2D1_ENST00000356253.5_Splice_Site_p.V958_splice|CACNA2D1_ENST00000535308.1_Splice_Site_p.V158_splice NM_000722.2 NP_000713.2 P54289 CA2D1_HUMAN calcium channel, voltage-dependent, alpha 2/delta subunit 1 958 voltage-gated calcium channel complex metal ion binding breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 81 Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115) CTCCATCTCAACTTGGGTGGC 0.473000 28 40 0 0 0.008361 0 0 CAND1 55832 broad.mit.edu 37 12 67691613 67691613 + Silent SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr12:67691613C>T ENST00000545606.1 + 6 1271 c.834C>T c.(832-834)gcC>gcT p.A278A NM_018448.3 NP_060918.2 Q86VP6 CAND1_HUMAN cullin-associated and neddylation-dissociated 1 278 cell differentiation|negative regulation of catalytic activity|protein ubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|ubiquitin ligase complex protein binding NS(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1) 35 GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196) GBM - Glioblastoma multiforme(28;0.0279) GTATTCAAGCCTTTGAATCAT 0.303000 14 23 0 0 0.003163 0 0 SRL 6345 broad.mit.edu 37 16 4242768 4242768 + Missense_Mutation SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr16:4242768C>T ENST00000399609.3 - 6 820 c.808G>A c.(808-810)Ggg>Agg p.G270R SRL_ENST00000537996.1_Missense_Mutation_p.G228R NM_001098814.1 NP_001092284.1 Q86TD4 SRCA_HUMAN sarcalumenin 729 Acidic domain, probably binds calcium (By similarity). sarcoplasmic reticulum lumen GTP binding|GTPase activity p.G270R(1) breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(3) 21 AAGAGGGCCCCGTAAACCCGC 0.557000 42 49 0 0 0.007835 0 0 ERO1L 30001 broad.mit.edu 37 14 53138399 53138399 + Missense_Mutation SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr14:53138399G>A ENST00000395686.3 - 6 680 c.457C>T c.(457-459)Ctt>Ttt p.L153F NM_014584.1 NP_055399.1 Q96HE7 ERO1A_HUMAN ERO1-like (S. cerevisiae) 153 chaperone mediated protein folding requiring cofactor|electron transport chain|protein thiol-disulfide exchange|response to temperature stimulus|transport endoplasmic reticulum lumen|endoplasmic reticulum membrane|microsome disulfide oxidoreductase activity|flavin adenine dinucleotide binding|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor ERO1L/FERMT2(2) breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1) 12 Breast(41;0.226) GTCCACTGAAGAACAGCCTTC 0.284000 10 14 0 0 0.010729 0 0 FUT9 10690 broad.mit.edu 37 6 96651295 96651295 + Silent SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr6:96651295C>T ENST00000302103.5 + 3 590 c.264C>T c.(262-264)atC>atT p.I88I NM_006581.3 NP_006572.2 Q9Y231 FUT9_HUMAN fucosyltransferase 9 (alpha (1,3) fucosyltransferase) 88 L-fucose catabolic process|protein glycosylation Golgi cisterna membrane|integral to membrane alpha(1,3)-fucosyltransferase activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2) 34 all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356) BRCA - Breast invasive adenocarcinoma(108;0.08) TGTTCAACATCCAAGGATGCC 0.448000 36 47 0 0 0.005524 0 0 CACNA2D4 93589 broad.mit.edu 37 12 1965396 1965396 + Splice_Site SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr12:1965396C>T ENST00000382722.5 - 21 2371 c.e21-1 CACNA2D4_ENST00000588077.1_Splice_Site|CACNA2D4_ENST00000539048.2_Splice_Site|CACNA2D4_ENST00000587995.1_Splice_Site|CACNA2D4_ENST00000586184.1_Splice_Site|CACNA2D4_ENST00000585708.1_Splice_Site|CACNA2D4_ENST00000585732.1_Splice_Site NM_172364.4 NP_758952.4 Q7Z3S7 CA2D4_HUMAN calcium channel, voltage-dependent, alpha 2/delta subunit 4 integral to membrane calcium channel activity|metal ion binding|voltage-gated ion channel activity endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 39 Ovarian(42;0.107) Myeloproliferative disorder(1001;0.206) OV - Ovarian serous cystadenocarcinoma(31;0.00113) Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451) TCATGCAGGCCTGAAACCAGA 0.507000 86 103 0 0 0.014410 0 0 POP4 10775 broad.mit.edu 37 19 30104870 30104870 + Missense_Mutation SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr19:30104870C>T ENST00000585603.1 + 6 2819 c.517C>T c.(517-519)Cgc>Tgc p.R173C POP4_ENST00000221770.3_Missense_Mutation_p.R49C|POP4_ENST00000392279.3_Missense_Mutation_p.R92C|POP4_ENST00000591824.1_3'UTR O95707 RPP29_HUMAN processing of precursor 4, ribonuclease P/MRP subunit (S. cerevisiae) 173 mRNA cleavage|rRNA processing|tRNA processing nucleolar ribonuclease P complex|ribonuclease MRP complex identical protein binding|ribonuclease P activity|RNA binding breast(1)|endometrium(1)|lung(4) 6 Ovarian(5;0.000567)|Breast(6;0.0602)|Esophageal squamous(110;0.239) UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|STAD - Stomach adenocarcinoma(5;1.7e-06)|Lung(7;0.0623)|LUAD - Lung adenocarcinoma(5;0.0989)|BRCA - Breast invasive adenocarcinoma(6;0.225) CAAAGAAGACCGCCTGAAAGG 0.453000 16 13 0 0 0.004990 0 0 SVEP1 79987 broad.mit.edu 37 9 113192700 113192700 + Missense_Mutation SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr9:113192700G>A ENST00000401783.2 - 33 5720 c.5384C>T c.(5383-5385)cCg>cTg p.P1795L SVEP1_ENST00000374469.1_Missense_Mutation_p.P1772L NM_153366.3 NP_699197.3 Q4LDE5 SVEP1_HUMAN sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 1795 Sushi 7. cell adhesion cytoplasm|extracellular region|membrane calcium ion binding NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4) 147 GCCATTTTCCGGATTTCCTGG 0.423000 7 17 0 0 0.001984 0 0 ZHX1 11244 broad.mit.edu 37 8 124266466 124266466 + Missense_Mutation SNP T T C TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr8:124266466T>C ENST00000395571.3 - 3 2338 c.1721A>G c.(1720-1722)gAg>gGg p.E574G ZHX1-C8ORF76_ENST00000357082.4_Intron|ZHX1_ENST00000522655.1_Missense_Mutation_p.E574G|ZHX1_ENST00000297857.2_Missense_Mutation_p.E574G NM_001017926.2|NM_007222.4 NP_001017926.1|NP_009153.3 Q9UKY1 ZHX1_HUMAN zinc fingers and homeoboxes 1 574 negative regulation of transcription, DNA-dependent nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 29 Lung NSC(37;1.25e-09)|Ovarian(258;0.0154) STAD - Stomach adenocarcinoma(47;0.00527) TGCAGTTTTCTCTTTAAACTT 0.433000 32 39 0 0 0.012213 0 0 SIK3 23387 broad.mit.edu 37 11 116744293 116744293 + Silent SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr11:116744293G>A ENST00000375300.1 - 13 1646 c.1641C>T c.(1639-1641)ggC>ggT p.G547G SIK3_ENST00000446921.2_Silent_p.G499G|SIK3_ENST00000434315.2_Silent_p.G388G|SIK3_ENST00000292055.4_Silent_p.G489G|SIK3_ENST00000542607.1_Silent_p.G441G|SIK3_ENST00000375288.1_5'UTR Q9Y2K2 SIK3_HUMAN SIK family kinase 3 489 cytoplasm ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 57 ATGCCCTCCGGCCAAGGGGGC 0.617000 222 321 0 0 0.014410 0 0 ITM2A 9452 broad.mit.edu 37 X 78616621 78616621 + Missense_Mutation SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chrX:78616621C>T ENST00000434584.2 - 5 961 c.625G>A c.(625-627)Gaa>Aaa p.E209K ITM2A_ENST00000373298.2_Missense_Mutation_p.E253K|ITM2A_ENST00000469541.1_5'UTR NM_001171581.1 NP_001165052.1 O43736 ITM2A_HUMAN integral membrane protein 2A 253 BRICHOS. integral to membrane protein binding breast(1)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1) 18 ACAATAAATTCGTTGGGGAAG 0.353000 19 1 0 0 0.003330 0 0 GDAP2 54834 broad.mit.edu 37 1 118424453 118424453 + Missense_Mutation SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr1:118424453G>A ENST00000369443.4 - 12 1543 c.1294C>T c.(1294-1296)Cgt>Tgt p.R432C GDAP2_ENST00000369442.3_Missense_Mutation_p.R432C NM_017686.3 NP_060156.1 Q9NXN4 GDAP2_HUMAN ganglioside induced differentiation associated protein 2 432 CRAL-TRIO. kidney(2)|large_intestine(3)|lung(9)|ovary(2) 16 all_cancers(81;0.0156)|all_lung(203;5.81e-05)|Lung NSC(69;0.000446)|all_epithelial(167;0.00295) Lung(183;0.0583)|LUSC - Lung squamous cell carcinoma(189;0.194) ACCTTTGAACGAAATGTGGGA 0.328000 41 6 0 0 0.014410 0 0 PIF1 80119 broad.mit.edu 37 15 65116064 65116064 + Silent SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr15:65116064C>T ENST00000268043.4 - 2 565 c.471G>A c.(469-471)gaG>gaA p.E157E PIF1_ENST00000333425.6_Silent_p.E157E|PIF1_ENST00000559239.1_Silent_p.E157E Q9H611 PIF1_HUMAN PIF1 5'-to-3' DNA helicase 157 negative regulation of telomerase activity|regulation of telomere maintenance|viral genome replication nuclear chromosome, telomeric region ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' DNA/RNA helicase activity|magnesium ion binding|single-stranded DNA-dependent ATP-dependent DNA helicase activity|telomeric DNA binding kidney(1)|lung(1) 2 TGAGCCGCCGCTCCTCGGGCT 0.756000 11 20 0 0 0.010729 0 0 PARP14 54625 broad.mit.edu 37 3 122414336 122414336 + Missense_Mutation SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr3:122414336C>T ENST00000474629.2 + 5 928 c.662C>T c.(661-663)cCa>cTa p.P221L NM_017554.2 NP_060024.2 Q460N5 PAR14_HUMAN poly (ADP-ribose) polymerase family, member 14 221 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane NAD+ ADP-ribosyltransferase activity NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1) 50 GBM - Glioblastoma multiforme(114;0.0531) CAGCTTTCTCCAAGACTTCTG 0.338000 9 9 0 0 0.001855 0 0 OR4C13 283092 broad.mit.edu 37 11 49974618 49974618 + Missense_Mutation SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr11:49974618C>T ENST00000555099.1 + 1 676 c.644C>T c.(643-645)tCc>tTc p.S215F NM_001001955.2 NP_001001955.2 Q8NGP0 OR4CD_HUMAN olfactory receptor, family 4, subfamily C, member 13 215 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.S215F(1) autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1) 43 CTCCTGGTCTCCTGCGTGGTC 0.488000 42 52 0 0 0.010771 0 0 MMP1 4312 broad.mit.edu 37 11 102661530 102661530 + Missense_Mutation SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr11:102661530C>T ENST00000315274.6 - 9 1271 c.1204G>A c.(1204-1206)Gaa>Aaa p.E402K WTAPP1_ENST00000525739.2_RNA NM_001145938.1|NM_002421.3 NP_001139410.1|NP_002412.1 P03956 MMP1_HUMAN matrix metallopeptidase 1 (interstitial collagenase) 402 Hemopexin-like 3. blood coagulation|collagen catabolic process|interspecies interaction between organisms|leukocyte migration|proteolysis proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding breast(2)|endometrium(1)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 30 all_epithelial(12;0.0127) all_neural(303;0.000318)|all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) Epithelial(9;0.072)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.233) OV - Ovarian serous cystadenocarcinoma(223;1.82e-07)|Epithelial(105;1.51e-06)|BRCA - Breast invasive adenocarcinoma(274;0.014) CGTTTATATTCATCATACCTG 0.363000 38 32 0 0 0.005524 0 0 KLF7 8609 broad.mit.edu 37 2 208030260 208030260 + Silent SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr2:208030260C>T ENST00000309446.6 - 1 409 c.33G>A c.(31-33)caG>caA p.Q11Q KLF7_ENST00000421199.1_Intron|KLF7_ENST00000458272.1_Silent_p.Q11Q|KLF7_ENST00000423015.1_Silent_p.Q11Q NM_003709.3 NP_003700.1 O75840 KLF7_HUMAN Kruppel-like factor 7 (ubiquitous) 11 regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|zinc ion binding breast(1)|central_nervous_system(1)|large_intestine(3)|liver(1)|lung(4)|skin(1) 11 LUSC - Lung squamous cell carcinoma(261;0.0856)|Lung(261;0.166)|Epithelial(149;0.173) GTTGTAGCTCCTGGAATATAC 0.507000 49 72 0 0 0.014410 0 0 BCL11B 64919 broad.mit.edu 37 14 99641844 99641844 + Silent SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr14:99641844G>A ENST00000345514.2 - 3 1382 c.1116C>T c.(1114-1116)atC>atT p.I372I BCL11B_ENST00000443726.2_Silent_p.I249I|BCL11B_ENST00000357195.3_Silent_p.I443I NM_022898.1 NP_075049.1 Q9C0K0 BC11B_HUMAN B-cell CLL/lymphoma 11B (zinc finger protein) 443 nucleus zinc ion binding NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2) 34 Melanoma(154;0.0866)|all_epithelial(191;0.241) COAD - Colon adenocarcinoma(157;0.103) GCCGGTGCACGATGAGATTGC 0.662000 T TLX3 T-ALL 20 29 0 0 0.007413 0 0 SIN3B 23309 broad.mit.edu 37 19 16952673 16952673 + Missense_Mutation SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr19:16952673C>T ENST00000379803.1 + 4 490 c.476C>T c.(475-477)tCc>tTc p.S159F SIN3B_ENST00000596802.1_Missense_Mutation_p.S159F|SIN3B_ENST00000248054.5_Missense_Mutation_p.S159F NM_015260.2 NP_056075.1 O75182 SIN3B_HUMAN SIN3 transcription regulator family member B 159 PAH 2. cellular lipid metabolic process|transcription, DNA-dependent nucleoplasm protein binding endometrium(4)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 26 GAGTCCGATTCCGTGGAATTC 0.522000 27 23 0 0 0.004656 0 0 C11orf63 79864 broad.mit.edu 37 11 122756873 122756873 + Missense_Mutation SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr11:122756873C>T ENST00000227349.2 + 2 613 c.316C>T c.(316-318)Cat>Tat p.H106Y C11orf63_ENST00000531316.1_Missense_Mutation_p.H106Y|C11orf63_ENST00000307257.6_Missense_Mutation_p.H106Y NM_024806.2 NP_079082.2 Q6NUN7 CK063_HUMAN chromosome 11 open reading frame 63 106 breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(13)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1) 47 Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311) GCAAAACCACCATACCTGGGA 0.483000 23 44 0 0 0.003330 0 0 DDX53 168400 broad.mit.edu 37 X 23018312 23018312 + Silent SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chrX:23018312C>T ENST00000327968.5 + 1 226 c.138C>T c.(136-138)tcC>tcT p.S46S RP11-40F8.2_ENST00000455399.1_RNA NM_182699.3 NP_874358.2 Q86TM3 DDX53_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 53 46 nucleus ATP binding|ATP-dependent helicase activity|RNA binding breast(2)|endometrium(5)|kidney(4)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2) 35 CAGCAGGCTCCCGTGAACCAC 0.507000 21 4 0 0 0.012319 0 0 PHACTR1 221692 broad.mit.edu 37 6 12718995 12718995 + Missense_Mutation SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr6:12718995G>A ENST00000379350.1 + 2 148 c.19G>A c.(19-21)Gat>Aat p.D7N PHACTR1_ENST00000379348.2_Missense_Mutation_p.D7N|PHACTR1_ENST00000332995.7_Missense_Mutation_p.D7N Q9C0D0 PHAR1_HUMAN phosphatase and actin regulator 1 7 cell junction|cytoplasm|synapse actin binding|protein phosphatase inhibitor activity breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3) 26 Breast(50;0.0427)|Ovarian(93;0.12) all_hematologic(90;0.122)|Lung SC(78;0.195) Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239) TCCCAAAATGGATTATTTTCT 0.353000 215 30 0 0 0.014410 0 0 MISP 126353 broad.mit.edu 37 19 757502 757502 + Missense_Mutation SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr19:757502G>A ENST00000215582.6 + 2 659 c.556G>A c.(556-558)Gtt>Att p.V186I NM_173481.2 NP_775752.1 mitotic spindle positioning GGAGAACGTGGTTGACAGGGA 0.672000 11 15 0 0 0.008291 0 0 C1orf131 128061 broad.mit.edu 37 1 231362503 231362503 + Silent SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr1:231362503C>T ENST00000318906.2 - 5 703 c.675G>A c.(673-675)aaG>aaA p.K225K C1orf131_ENST00000366651.3_Silent_p.K224K|C1orf131_ENST00000366649.2_Silent_p.K225K Q8NDD1 CA131_HUMAN chromosome 1 open reading frame 131 225 Lys-rich. breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1) 8 Breast(184;0.0871) all_cancers(173;0.2)|Prostate(94;0.183) TTTCTTCTTCCTTTGCTGCCT 0.403000 30 58 0 0 0.009535 0 0 TLN2 83660 broad.mit.edu 37 15 63127947 63127947 + Silent SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr15:63127947C>T ENST00000561311.1 + 55 7370 c.7140C>T c.(7138-7140)atC>atT p.I2380I RP11-1069G10.1_ENST00000558404.1_RNA|TLN2_ENST00000306829.6_Silent_p.I2380I Q9Y4G6 TLN2_HUMAN talin 2 2380 I/LWEQ. cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse actin binding|insulin receptor binding|structural constituent of cytoskeleton NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5) 99 TGGGCTCCATCCCTGCCAATG 0.597000 59 99 0 0 0.014410 0 0 PLCB4 5332 broad.mit.edu 37 20 9417698 9417698 + Missense_Mutation SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr20:9417698G>A ENST00000378501.2 + 26 2642 c.2627G>A c.(2626-2628)gGa>gAa p.G876E PLCB4_ENST00000378493.1_Missense_Mutation_p.G876E|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000378473.3_Missense_Mutation_p.G888E|PLCB4_ENST00000334005.3_Missense_Mutation_p.G876E|PLCB4_ENST00000414679.2_Missense_Mutation_p.G888E|PLCB4_ENST00000278655.4_Missense_Mutation_p.G876E NM_000933.3 NP_000924.3 Q15147 PLCB4_HUMAN phospholipase C, beta 4 876 intracellular signal transduction|lipid catabolic process cytosol calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1) 87 GACAAGAAAGGAAAGGCCAAC 0.498000 16 20 0 0 0.004007 0 0 ELMO2 63916 broad.mit.edu 37 20 45000553 45000553 + Missense_Mutation SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr20:45000553G>A ENST00000372176.1 - 17 1676 c.1208C>T c.(1207-1209)tCt>tTt p.S403F ELMO2_ENST00000396391.1_Missense_Mutation_p.S491F|ELMO2_ENST00000352077.2_Missense_Mutation_p.S489F|ELMO2_ENST00000445496.2_Missense_Mutation_p.S308F|ELMO2_ENST00000290246.6_Missense_Mutation_p.S491F|ELMO2_ENST00000454865.2_Missense_Mutation_p.S223F|ELMO2_ENST00000439931.2_Missense_Mutation_p.S503F Q96JJ3 ELMO2_HUMAN engulfment and cell motility 2 491 ELMO. apoptosis|cell chemotaxis|phagocytosis cytoskeleton|cytosol|membrane lyase activity|receptor tyrosine kinase binding|SH3 domain binding breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|urinary_tract(1) 16 Myeloproliferative disorder(115;0.0122) CTGATCCAAAGAGTTGGGTTT 0.502000 28 34 0 0 0.007291 0 0 FAT3 120114 broad.mit.edu 37 11 92523187 92523187 + Missense_Mutation SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr11:92523187G>A ENST00000298047.6 + 7 4431 c.4414G>A c.(4414-4416)Gat>Aat p.D1472N FAT3_ENST00000409404.2_Missense_Mutation_p.D1472N|FAT3_ENST00000525166.1_Missense_Mutation_p.D1322N Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 1472 Cadherin 14. 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) AATTTCCGAGGATGTGCTTCC 0.428000 TCGA Ovarian(4;0.039) 155 225 0 0 0.014410 0 0 LRRC56 115399 broad.mit.edu 37 11 551784 551784 + Silent SNP T T A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr11:551784T>A ENST00000270115.7 + 10 1430 c.930T>A c.(928-930)tcT>tcA p.S310S NM_198075.3 NP_932341.1 Q8IYG6 LRC56_HUMAN leucine rich repeat containing 56 310 kidney(1)|lung(4)|skin(1) 6 all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703) GCCTGCTTTCTGAGGACCTGG 0.672000 14 15 0 0 0.003163 0 0 SLC15A2 6565 broad.mit.edu 37 3 121643824 121643824 + Silent SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr3:121643824C>T ENST00000489711.1 + 13 1456 c.1068C>T c.(1066-1068)atC>atT p.I356I SLC15A2_ENST00000295605.2_Silent_p.I325I NM_021082.3 NP_066568.3 Q16348 S15A2_HUMAN solute carrier family 15 (oligopeptide transporter), member 2 356 protein transport integral to plasma membrane peptide:hydrogen symporter activity|protein binding NS(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(17)|skin(6)|upper_aerodigestive_tract(2) 36 GBM - Glioblastoma multiforme(114;0.0967) Cefadroxil(DB01140) TTATCTTCATCCCGTTGTTTG 0.383000 31 89 0 0 0.013726 0 0 DMRT3 58524 broad.mit.edu 37 9 990863 990863 + Missense_Mutation SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr9:990863C>T ENST00000190165.2 + 2 1315 c.1277C>T c.(1276-1278)cCt>cTt p.P426L NM_021240.2 NP_067063.1 Q9NQL9 DMRT3_HUMAN doublesex and mab-3 related transcription factor 3 426 cell differentiation|multicellular organismal development|sex differentiation nucleus DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 26 all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08) Lung(218;0.0196) CCCGTCCTTCCTGCCCGCGCC 0.552000 27 8 0 0 0.003954 0 0 TAX1BP1 8887 broad.mit.edu 37 7 27831771 27831771 + Silent SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr7:27831771C>T ENST00000396319.2 + 9 1273 c.1185C>T c.(1183-1185)cgC>cgT p.R395R TAX1BP1_ENST00000265393.6_Silent_p.R395R|TAX1BP1_ENST00000543117.1_Silent_p.R395R|TAX1BP1_ENST00000409980.1_Silent_p.R395R|TAX1BP1_ENST00000433216.2_Silent_p.R238R NM_006024.6 NP_006015.4 Q86VP1 TAXB1_HUMAN Tax1 (human T-cell leukemia virus type I) binding protein 1 395 Oligomerization. anti-apoptosis|apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production cytosol identical protein binding|kinase binding|zinc ion binding breast(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(8)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 31 GBM - Glioblastoma multiforme(3;0.0823) ATACTGCACGCTTGGAAAACG 0.413000 106 154 0 0 0.014410 0 0 DMBT1 1755 broad.mit.edu 37 10 124402799 124402799 + Missense_Mutation SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr10:124402799G>A ENST00000368909.3 + 53 7233 c.7127G>A c.(7126-7128)cGa>cAa p.R2376Q DMBT1_ENST00000368955.3_Missense_Mutation_p.R2366Q|DMBT1_ENST00000359586.6_Missense_Mutation_p.R1096Q|DMBT1_ENST00000344338.3_Missense_Mutation_p.R2366Q|DMBT1_ENST00000368956.2_Missense_Mutation_p.R1748Q|DMBT1_ENST00000338354.3_Missense_Mutation_p.R2376Q|DMBT1_ENST00000330163.4_Missense_Mutation_p.R1748Q NM_007329.2 NP_015568.2 Q9UGM3 DMBT1_HUMAN deleted in malignant brain tumors 1 2376 ZP. 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) CGCTGCTACCGAGGCTGTGTG 0.607000 42 50 0 0 0.008740 0 0 KRTAP5-8 57830 broad.mit.edu 37 11 71249145 71249145 + Missense_Mutation SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr11:71249145G>A ENST00000398534.3 + 1 75 c.44G>A c.(43-45)gGg>gAg p.G15E NM_021046.2 NP_066384.2 O75690 KRA58_HUMAN keratin associated protein 5-8 15 extracellular region|keratin filament structural constituent of epidermis cervix(1)|endometrium(1)|lung(2)|skin(1)|stomach(1) 6 TCCGGCTGTGGGGGCTGCGGC 0.652000 73 82 0 0 0.014410 0 0 NR1D2 9975 broad.mit.edu 37 3 23997550 23997550 + Silent SNP G G T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr3:23997550G>T ENST00000312521.4 + 3 625 c.306G>T c.(304-306)ctG>ctT p.L102L NR1D2_ENST00000492552.1_3'UTR NM_001145425.1|NM_005126.4 NP_001138897.1|NP_005117.3 Q14995 NR1D2_HUMAN nuclear receptor subfamily 1, group D, member 2 102 regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding NS(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2) 22 TGGTTCTACTGTGTAAAGTCT 0.398000 47 77 2.73381e-35 2.94827e-35 0.014410 1 0 KALRN 8997 broad.mit.edu 37 3 124175505 124175505 + Missense_Mutation SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr3:124175505C>T ENST00000360013.3 + 23 3905 c.3778C>T c.(3778-3780)Cgg>Tgg p.R1260W KALRN_ENST00000460856.1_Missense_Mutation_p.R1251W|KALRN_ENST00000240874.3_Missense_Mutation_p.R1260W NM_001024660.3 NP_001019831.2 O60229 KALRN_HUMAN kalirin, RhoGEF kinase 1260 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport actin cytoskeleton|cytosol ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 83 CCTTTCGGATCGGGAGGTCAA 0.537000 30 44 0 0 0.009535 0 0 ADAMTS18 170692 broad.mit.edu 37 16 77359862 77359862 + Missense_Mutation SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr16:77359862C>T ENST00000282849.5 - 13 2351 c.1933G>A c.(1933-1935)Gaa>Aaa p.E645K NM_199355.2 NP_955387.1 Q8TE60 ATS18_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 18 645 Cys-rich. 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 AAGCTATTTTCATTGCAAGGG 0.403000 19 26 0 0 0.007413 0 0 IGKV1-27 28935 broad.mit.edu 37 2 89513060 89513060 + RNA SNP T T C TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr2:89513060T>C ENST00000498435.1 - 0 229 ATCAGGAGCTTAGGAACTTTC 0.512000 50 44 0 0 0.014410 0 0 NLRP11 204801 broad.mit.edu 37 19 56321202 56321202 + Silent SNP G G A rs140447447 byFrequency TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr19:56321202G>A ENST00000443188.1 - 5 1484 c.774C>T c.(772-774)ctC>ctT p.L258L NLRP11_ENST00000360133.3_Silent_p.L258L|NLRP11_ENST00000592953.1_Silent_p.L159L|NLRP11_ENST00000589824.2_Silent_p.L258L|NLRP11_ENST00000589093.1_Silent_p.L258L NM_145007.3 NP_659444.2 P59045 NAL11_HUMAN NLR family, pyrin domain containing 11 258 NACHT. 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) AACTGACCAGGAGAACTGGAA 0.443000 23 28 0 0 0.003330 0 0 OR8B4 283162 broad.mit.edu 37 11 124293858 124293858 + Silent SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr11:124293858G>A ENST00000356130.3 - 1 931 c.910C>T c.(910-912)Ctg>Ttg p.L304L NM_001005196.1 NP_001005196.1 Q96RC9 OR8B4_HUMAN olfactory receptor, family 8, subfamily B, member 4 304 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.L304M(1) endometrium(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(1)|urinary_tract(1) 32 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;0.0279) ACTCTCTTCAGGGTTTTGCCC 0.433000 14 13 0 0 0.002450 0 0 OTOGL 283310 broad.mit.edu 37 12 80761448 80761448 + Missense_Mutation SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr12:80761448G>A ENST00000458043.2 + 53 6418 c.6412G>A c.(6412-6414)Gaa>Aaa p.E2138K OTOGL_ENST00000547103.1_Missense_Mutation_p.E2126K|OTOGL_ENST00000546620.1_Missense_Mutation_p.E157K NM_173591.3 NP_775862.3 otogelin-like breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1) 23 GTGTCTGGAAGAAAAAGATAA 0.333000 8 5 0 0 0.004482 0 0 HABP2 3026 broad.mit.edu 37 10 115343036 115343036 + Missense_Mutation SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr10:115343036C>T ENST00000351270.3 + 10 1252 c.1156C>T c.(1156-1158)Cat>Tat p.H386Y HABP2_ENST00000541666.1_3'UTR|HABP2_ENST00000542051.1_Missense_Mutation_p.H360Y NM_004132.3 NP_004123.1 Q14520 HABP2_HUMAN hyaluronan binding protein 2 386 Peptidase S1. cell adhesion|proteolysis extracellular space glycosaminoglycan binding|serine-type endopeptidase activity breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(2) 23 Colorectal(252;0.0233)|Breast(234;0.0672) Epithelial(162;0.00319)|all cancers(201;0.0112) AGAAGAATTTCATGAGCAGAG 0.438000 34 36 0 0 0.004289 0 0 KSR2 283455 broad.mit.edu 37 12 118199001 118199001 + Silent SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr12:118199001G>A ENST00000425217.1 - 4 768 c.714C>T c.(712-714)atC>atT p.I238I KSR2_ENST00000339824.5_Silent_p.I267I NM_173598.4 NP_775869.3 Q6VAB6 KSR2_HUMAN kinase suppressor of ras 2 267 Pro-rich. 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) CGGTGGTGACGATGTTGGGGG 0.721000 92 139 0 0 0.014410 0 0 CTAGE6 340307 broad.mit.edu 37 7 143453510 143453510 + Silent SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr7:143453510C>T ENST00000470691.2 - 1 1279 c.1242G>A c.(1240-1242)gaG>gaA p.E414E NM_178561.4 NP_848656.2 CTAGE family, member 6 Melanoma(164;0.0903) TAGAAAGCTTCTCTTCTTCCT 0.373000 34 124 0 0 0.012213 0 0 LRIG1 26018 broad.mit.edu 37 3 66433778 66433778 + Missense_Mutation SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr3:66433778C>T ENST00000383703.3 - 16 2653 c.2050G>A c.(2050-2052)Gga>Aga p.G684R LRIG1_ENST00000273261.3_Missense_Mutation_p.G707R|LRIG1_ENST00000496559.2_5'UTR|SLC25A26_ENST00000536651.1_Intron Q96JA1 LRIG1_HUMAN leucine-rich repeats and immunoglobulin-like domains 1 707 Ig-like C2-type 2. integral to membrane NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1) 42 Lung NSC(201;0.0101) BRCA - Breast invasive adenocarcinoma(55;0.00047) ACTGTTTCTCCCACAGATACC 0.602000 35 52 0 0 0.006230 0 0 PLXNA2 5362 broad.mit.edu 37 1 208234042 208234042 + Silent SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr1:208234042G>A ENST00000367033.3 - 13 3484 c.2727C>T c.(2725-2727)atC>atT p.I909I NM_025179.3 NP_079455.3 O75051 PLXA2_HUMAN plexin A2 909 IPT/TIG 1. axon guidance integral to membrane|intracellular|plasma membrane NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3) 80 OV - Ovarian serous cystadenocarcinoma(81;0.199) GCTCAGCGATGATGTATTCCC 0.617000 14 30 0 0 0.003163 0 0 ANKRD30A 91074 broad.mit.edu 37 10 37431162 37431162 + Missense_Mutation SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr10:37431162G>A ENST00000374660.1 + 7 1268 c.1169G>A c.(1168-1170)aGa>aAa p.R390K ANKRD30A_ENST00000361713.1_Missense_Mutation_p.R390K|ANKRD30A_ENST00000602533.1_Missense_Mutation_p.R390K Q9BXX3 AN30A_HUMAN ankyrin repeat domain 30A 446 nucleus DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3) 158 GAAAAAGGAAGATCTAAGATG 0.383000 17 20 0 0 0.006122 0 0 IGHV3-73 28409 broad.mit.edu 37 14 107211013 107211013 + RNA SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr14:107211013G>A ENST00000390636.2 - 0 355 AATCATCTCTGGAGATGGTGA 0.517000 27 39 0 0 0.006320 0 0 DCC 1630 broad.mit.edu 37 18 51025821 51025821 + Missense_Mutation SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr18:51025821C>T ENST00000442544.2 + 27 4668 c.4052C>T c.(4051-4053)cCt>cTt p.P1351L RP11-671P2.1_ENST00000582064.1_RNA|DCC_ENST00000581580.1_Missense_Mutation_p.P984L NM_005215.3 NP_005206.2 P43146 DCC_HUMAN deleted in colorectal carcinoma 1351 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) CCTTTGCTACCTCCACCAATG 0.473000 42 55 0 0 0.014410 0 0 COL1A2 1278 broad.mit.edu 37 7 94041417 94041417 + Missense_Mutation SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr7:94041417G>A ENST00000297268.6 + 24 1859 c.1388G>A c.(1387-1389)gGa>gAa p.G463E NM_000089.3 NP_000080.2 P08123 CO1A2_HUMAN collagen, type I, alpha 2 463 Missing (in OI2A). axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway collagen type I|extracellular space|plasma membrane extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging COL1A2/PLAG1(3) NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 115 all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08) STAD - Stomach adenocarcinoma(171;0.0031) Collagenase(DB00048) GGCCCCGCTGGAAAAGAAGGT 0.368000 HNSCC(75;0.22) 5 12 0 0 0.001984 0 0 SALL4 57167 broad.mit.edu 37 20 50418824 50418824 + Missense_Mutation SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr20:50418824C>T ENST00000217086.4 - 1 235 c.124G>A c.(124-126)Gag>Aag p.E42K SALL4_ENST00000395997.3_Missense_Mutation_p.E42K|SALL4_ENST00000371539.3_Missense_Mutation_p.E42K NM_020436.3 NP_065169.1 Q9UJQ4 SALL4_HUMAN spalt-like transcription factor 4 42 transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 TCACCCAGCTcccccgccgcg 0.756000 11 14 0 0 0.010729 0 0 IGHV4-39 28394 broad.mit.edu 37 14 106877887 106877887 + RNA SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr14:106877887C>T ENST00000390619.2 - 0 156 CTTCACCAGTCCTGGGCCCGA 0.607000 25 29 0 0 0.004656 0 0 PAPLN 89932 broad.mit.edu 37 14 73725746 73725746 + Missense_Mutation SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr14:73725746C>T ENST00000427855.1 + 15 1789 c.1687C>T c.(1687-1689)Cct>Tct p.P563S PAPLN_ENST00000554301.1_Missense_Mutation_p.P563S|PAPLN_ENST00000555445.1_Missense_Mutation_p.P563S|PAPLN_ENST00000381166.3_Missense_Mutation_p.P563S|PAPLN_ENST00000340738.5_Missense_Mutation_p.P536S O95428 PPN_HUMAN papilin, proteoglycan-like sulfated glycoprotein 563 proteinaceous extracellular matrix metalloendopeptidase activity|serine-type endopeptidase inhibitor activity|zinc ion binding NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(3) 42 BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468) GCCGTTGGGCCCTCAGGAGTC 0.647000 18 19 0 0 0.006122 0 0 PIGR 5284 broad.mit.edu 37 1 207107923 207107923 + Missense_Mutation SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr1:207107923G>A ENST00000356495.4 - 6 1730 c.1547C>T c.(1546-1548)gCc>gTc p.A516V NM_002644.3 NP_002635.2 P01833 PIGR_HUMAN polymeric immunoglobulin receptor 516 Ig-like V-type 5. extracellular region|integral to plasma membrane protein binding central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 GTTCACGAAGGCCTTGCTGGG 0.582000 34 66 0 0 0.006999 0 0 TRBV11-2 28581 broad.mit.edu 37 7 142197669 142197669 + RNA SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr7:142197669C>T ENST00000471935.1 - 0 308 TGCAGAAAATCGATCCTTAGG 0.502000 35 49 0 0 0.012213 0 0 ZNF839 55778 broad.mit.edu 37 14 102793131 102793131 + Silent SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr14:102793131C>T ENST00000262236.5 + 2 1105 c.750C>T c.(748-750)agC>agT p.S250S ZNF839_ENST00000442396.2_Silent_p.S366S|ZNF839_ENST00000559185.1_Silent_p.S250S|ZNF839_ENST00000558850.1_Silent_p.S250S NM_018335.4 NP_060805.3 A8K0R7 ZN839_HUMAN zinc finger protein 839 250 intracellular zinc ion binding breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 19 GGACGCTCAGCCTGACCTCCC 0.637000 12 4 0 0 0.013537 0 0 GPR137C 283554 broad.mit.edu 37 14 53100346 53100346 + Silent SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr14:53100346C>T ENST00000321662.6 + 5 966 c.966C>T c.(964-966)ttC>ttT p.F322F NM_001099652.1 NP_001093122.1 Q8N3F9 G137C_HUMAN G protein-coupled receptor 137C 322 integral to membrane NS(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1) 8 Breast(41;0.0716) TACTGTTTTTCCGGGCACAGA 0.368000 22 24 0 0 0.010504 0 0 SNPH 9751 broad.mit.edu 37 20 1285634 1285634 + Missense_Mutation SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr20:1285634G>A ENST00000381867.1 + 7 1195 c.553G>A c.(553-555)Gag>Aag p.E185K SNPH_ENST00000381873.3_Missense_Mutation_p.E141K O15079 SNPH_HUMAN syntaphilin 141 synaptic vesicle docking involved in exocytosis cell junction|integral to membrane|synapse|synaptosome syntaxin-1 binding endometrium(2)|large_intestine(4)|lung(10)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 GGCCCGAAAGGAGATCAAGCA 0.557000 35 65 0 0 0.006230 0 0 SYPL1 6856 broad.mit.edu 37 7 105732271 105732271 + Missense_Mutation SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr7:105732271G>A ENST00000455385.2 - 5 828 c.706C>T c.(706-708)Cca>Tca p.P236S SYPL1_ENST00000011473.2_Missense_Mutation_p.P254S|SYPL1_ENST00000470347.1_3'UTR NM_182715.2 NP_874384.1 Q16563 SYPL1_HUMAN synaptophysin-like 1 254 MARVEL. synaptic transmission cytoplasmic vesicle membrane|integral to plasma membrane|melanosome|synaptic vesicle transporter activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|prostate(1) 7 GTAGGAGGTGGAATACCTCCT 0.403000 19 28 0 0 0.010504 0 0 LINC01518 101929397 broad.mit.edu 37 10 43178809 43178809 + RNA SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr10:43178809G>A ENST00000411439.1 - 0 354 GTCTCACCATGGACTCGAGAG 0.428000 3 1 0 0 0.009096 0 0 PGR 5241 broad.mit.edu 37 11 100962567 100962567 + Silent SNP G G A rs11571179 TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr11:100962567G>A ENST00000325455.5 - 3 3283 c.1830C>T c.(1828-1830)atC>atT p.I610I PGR_ENST00000534013.1_Silent_p.I16I|PGR_ENST00000263463.5_Silent_p.I610I NM_000926.4|NM_001202474.1 NP_000917.3|NP_001189403.1 P06401 PRGR_HUMAN progesterone receptor 610 cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor cytoplasm|nucleoplasm enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 36 Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014) LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164) Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396) TTTTATCAACGATGCAGTCAT 0.378000 9 9 0 0 0.008291 0 0 ZNF354B 117608 broad.mit.edu 37 5 178311020 178311020 + Nonsense_Mutation SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr5:178311020C>T ENST00000322434.3 + 5 1793 c.1567C>T c.(1567-1569)Cga>Tga p.R523* ZNF354B_ENST00000522714.1_3'UTR NM_058230.2 NP_478137.1 Q96LW1 Z354B_HUMAN zinc finger protein 354B 523 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|kidney(2)|large_intestine(7)|liver(2)|lung(2)|ovary(2)|stomach(3)|urinary_tract(1) 21 all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351) all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GAAACCATATCGATGTTTAGA 0.383000 13 8 0 0 0.001855 0 0 CSMD2 114784 broad.mit.edu 37 1 34049348 34049348 + Silent SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr1:34049348G>A ENST00000373381.4 - 47 7310 c.7134C>T c.(7132-7134)ttC>ttT p.F2378F NM_052896.3 NP_443128.2 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 2380 CUB 14. 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) AGCAGGTCTGGAACTGGGGAT 0.502000 48 58 0 0 0.013114 0 0 G6PD 2539 broad.mit.edu 37 X 153762623 153762623 + Missense_Mutation SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chrX:153762623G>A ENST00000393562.2 - 6 1047 c.664C>T c.(664-666)Cgt>Tgt p.R222C G6PD_ENST00000369620.2_Missense_Mutation_p.R192C|G6PD_ENST00000393564.2_Missense_Mutation_p.R192C NM_000402.3 NP_000393.4 P11413 G6PD_HUMAN glucose-6-phosphate dehydrogenase 192 cellular response to oxidative stress|cholesterol biosynthetic process|cytokine production|erythrocyte maturation|glucose 6-phosphate metabolic process|glutathione metabolic process|negative regulation of protein glutathionylation|pentose-phosphate shunt, oxidative branch|ribose phosphate biosynthetic process centrosome|cytosol|internal side of plasma membrane|intracellular membrane-bounded organelle glucose binding|glucose-6-phosphate dehydrogenase activity|NADP binding|protein homodimerization activity breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(3)|ovary(4) 18 all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) TGGTCCTCACGGAACAGGGAG 0.637000 31 3 0 0 0.009535 0 0 ZNF814 730051 broad.mit.edu 37 19 58386284 58386284 + Silent SNP T T C rs148592080 by1000genomes TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr19:58386284T>C ENST00000435989.2 - 3 708 c.474A>G c.(472-474)gcA>gcG p.A158A ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000600634.1_Intron NM_001144989.1 NP_001138461.1 B7Z6K7 ZN814_HUMAN zinc finger protein 814 158 A -> V (in Ref. 1; BAH13293). regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3) 25 TACACCTCTTTGCAAACAACG 0.493000 3 43 0 0 0.004672 0 0 ZNF648 127665 broad.mit.edu 37 1 182025636 182025636 + Missense_Mutation SNP A A T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr1:182025636A>T ENST00000339948.3 - 2 1717 c.1510T>A c.(1510-1512)Ttc>Atc p.F504I NM_001009992.1 NP_001009992.1 Q5T619 ZN648_HUMAN zinc finger protein 648 504 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(7)|large_intestine(10)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 40 GCACAGAGGAATCCCTTCTCC 0.622000 8 13 0 0 0.006214 0 0 LRP1B 53353 broad.mit.edu 37 2 141773438 141773438 + Missense_Mutation SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr2:141773438C>T ENST00000389484.3 - 13 2988 c.2017G>A c.(2017-2019)Gtg>Atg p.V673M NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 673 protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding p.V673L(1) NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) ATCCTTCCCACGCTGTCATCT 0.413000 TSP Lung(27;0.18) 25 32 0 0 0.006320 0 0 ZNF536 9745 broad.mit.edu 37 19 31039364 31039364 + Silent SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr19:31039364C>T ENST00000355537.3 + 4 2985 c.2838C>T c.(2836-2838)tcC>tcT p.S946S NM_014717.1 NP_055532.1 O15090 ZN536_HUMAN zinc finger protein 536 946 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 182 Esophageal squamous(110;0.0834) ACCCCCCTTCCATGAAAGTCC 0.517000 81 86 0 0 0.014410 0 0 DEF6 50619 broad.mit.edu 37 6 35265704 35265704 + Missense_Mutation SNP G G C TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr6:35265704G>C ENST00000316637.5 + 1 76 c.71G>C c.(70-72)gGc>gCc p.G24A DEF6_ENST00000542066.1_5'UTR NM_022047.3 NP_071330.3 Q9H4E7 DEFI6_HUMAN differentially expressed in FDCP 6 homolog (mouse) 24 cytoplasm|nucleus|plasma membrane cervix(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|upper_aerodigestive_tract(2) 15 GAGAAGAGTGGCAAAGTCTCC 0.687000 13 4 0 0 0.004007 0 0 PRSS48 345062 broad.mit.edu 37 4 152204347 152204347 + Missense_Mutation SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr4:152204347C>T ENST00000455694.2 + 4 562 c.560C>T c.(559-561)cCc>cTc p.P187L PRSS48_ENST00000441586.2_Missense_Mutation_p.P44L|SH3D19_ENST00000604030.1_Intron NM_183375.2 NP_899231.2 Q7RTY5 PRS48_HUMAN protease, serine, 48 187 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity kidney(1)|large_intestine(2)|lung(2)|prostate(2)|urinary_tract(1) 8 CTCTACAATCCCATCGGTATC 0.468000 64 97 0 0 0.014410 0 0 TSHZ2 128553 broad.mit.edu 37 20 51871597 51871597 + Missense_Mutation SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr20:51871597G>A ENST00000371497.5 + 2 2487 c.1600G>A c.(1600-1602)Ggg>Agg p.G534R TSHZ2_ENST00000603338.2_Missense_Mutation_p.G531R|TSHZ2_ENST00000329613.6_Missense_Mutation_p.G531R NM_001193421.1|NM_173485.5 NP_001180350.1|NP_775756.3 Q9NRE2 TSH2_HUMAN teashirt zinc finger homeobox 2 534 multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 84 STAD - Stomach adenocarcinoma(23;0.1) AGCCCAAAACGGGGCCCCCAG 0.552000 31 38 0 0 0.009535 0 0 SPCS2 9789 broad.mit.edu 37 11 74680701 74680701 + Missense_Mutation SNP A A G TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr11:74680701A>G ENST00000263672.6 + 4 490 c.451A>G c.(451-453)Atg>Gtg p.M151V SPCS2_ENST00000528265.1_Intron|SPCS2_ENST00000526361.1_Missense_Mutation_p.M12V|SPCS2_ENST00000530257.1_Missense_Mutation_p.M82V NM_014752.2 NP_055567.2 Q15005 SPCS2_HUMAN signal peptidase complex subunit 2 homolog (S. cerevisiae) 151 energy reserve metabolic process|regulation of insulin secretion|signal peptide processing integral to membrane|microsome|signal peptidase complex peptidase activity breast(1) 1 TCCTACAGGAATGGATCCTGA 0.418000 50 57 0 0 0.014410 0 0 UNC5C 8633 broad.mit.edu 37 4 96199441 96199441 + Missense_Mutation SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr4:96199441C>T ENST00000453304.1 - 4 911 c.563G>A c.(562-564)tGt>tAt p.C188Y UNC5C_ENST00000506749.1_Missense_Mutation_p.C188Y|UNC5C_ENST00000504962.1_Missense_Mutation_p.C188Y NM_003728.3 NP_003719.3 O95185 UNC5C_HUMAN unc-5 homolog C (C. elegans) 188 Ig-like C2-type. apoptosis|axon guidance|brain development integral to membrane netrin receptor activity NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 55 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;8.72e-10) AGGTGGTCGACACTGGAGTAA 0.438000 24 36 0 0 0.006320 0 0 MYH3 4621 broad.mit.edu 37 17 10533745 10533745 + Missense_Mutation SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr17:10533745C>T ENST00000583535.1 - 37 5404 c.5317G>A c.(5317-5319)Gag>Aag p.E1773K MYH3_ENST00000226209.7_Missense_Mutation_p.E1773K NM_002470.3 NP_002461.2 P11055 MYH3_HUMAN myosin, heavy chain 3, skeletal muscle, embryonic 1773 muscle filament sliding|muscle organ development cytosol|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 83 GTGTCCTGCTCCTTCTTCAGC 0.577000 24 65 0 0 0.002780 0 0 MORC1 27136 broad.mit.edu 37 3 108682332 108682333 + Frame_Shift_Del DEL TT TT - TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr3:108682332_108682333delTT ENST00000232603.5 - 27 2809_2810 c.2727_2728delAA c.(2725-2730)aagafs p.KR909fs MORC1_ENST00000483760.1_Frame_Shift_Del_p.KR888fs NM_014429.3 NP_055244.3 Q86VD1 MORC1_HUMAN MORC family CW-type zinc finger 1 909 cell differentiation|multicellular organismal development|spermatogenesis nucleus ATP binding|zinc ion binding breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3) 105 GAGATTTTTCTTTTATTTTCAC 0.322 36 40 --- --- --- --- EIF4A2 1974 broad.mit.edu 37 3 186504015 186504015 + Frame_Shift_Del DEL A A - TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr3:186504015delA ENST00000323963.5 + 6 644 c.580delA c.(580-582)agfs p.K194fs EIF4A2_ENST00000356531.5_Frame_Shift_Del_p.K99fs|EIF4A2_ENST00000440191.2_Frame_Shift_Del_p.K195fs Q14240 IF4A2_HUMAN eukaryotic translation initiation factor 4A2 194 Helicase ATP-binding. interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation cytosol|eukaryotic translation initiation factor 4F complex ATP binding|ATP-dependent helicase activity|protein binding|translation initiation factor activity breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|urinary_tract(1) 28 all_cancers(143;2.68e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;1.07e-20) GBM - Glioblastoma multiforme(93;0.0704) CCGTGGTTTTAAGGATCAAAT 0.353 T BCL6 NHL 11 25 --- --- --- --- KIT 3815 broad.mit.edu 37 4 55599319 55599321 + In_Frame_Del DEL AGA AGA - rs121913506 TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr4:55599319_55599321delAGA ENST00000288135.5 + 17 2542_2544 c.2445_2447delAGA c.(2443-2448)agc>ag p.RD815del NM_000222.2|NM_001093772.1 NP_000213.1|NP_001087241.1 P10721 KIT_HUMAN v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog 815 Protein kinase. male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway extracellular space|integral to membrane ATP binding|protein binding|receptor signaling protein tyrosine kinase activity p.D816V(758)|p.D816Y(46)|p.D816H(42)|p.D816F(6)|p.D816I(2)|p.D816G(2)|p.D816>VVA(1)|p.D816N(1)|p.D816A(1)|p.R815_D816insVI(1) NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1) 6411 all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101) LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209) Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171) Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268) GTCTAGCCAGAGACATCAAGAAT 0.394 1 """Mis, O""" """GIST, AML, TGCT, mastocytosis, mucosal melanoma""" """GIST, epithelioma""" Piebald trait Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors 8 129 --- --- --- --- SPEF2 79925 broad.mit.edu 37 5 35753811 35753811 + Frame_Shift_Del DEL G G - TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr5:35753811delG ENST00000440995.2 + 24 3401 c.3401delG c.(3400-3402)tgfs p.W1134fs CTD-2113L7.1_ENST00000510433.1_RNA|SPEF2_ENST00000356031.3_Frame_Shift_Del_p.W1139fs Q9C093 SPEF2_HUMAN sperm flagellar 2 1139 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 37 all_lung(31;7.56e-05) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) AATGAGAGCTGGTTACAGGAC 0.507 50 32 --- --- --- --- RP11-394A14.2 0 broad.mit.edu 37 13 64407210 64407211 + RNA INS - - TACTGTCAG TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr13:64407210_64407211insTACTGTCAG ENST00000607822.1 - 0 2159 AGACCTTTATATAATTGCCAAA 0.366 7 85 --- --- --- --- LOC102723841 102723841 broad.mit.edu 37 16 33365420 33365420 + RNA DEL A A - TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr16:33365420delA ENST00000568520.1 - 0 249 TACAAACTATAAAAAAACAGA 0.358 3 5 --- --- --- --- EPS15L1 58513 broad.mit.edu 37 19 16553011 16553011 + Frame_Shift_Del DEL A A - TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr19:16553011delA ENST00000597937.1 - 2 57 c.53delT c.(52-54)tgfs p.L18fs CTD-2013N17.4_ENST00000587343.1_RNA|EPS15L1_ENST00000535753.2_Frame_Shift_Del_p.L18fs|EPS15L1_ENST00000455140.2_Frame_Shift_Del_p.L18fs|EPS15L1_ENST00000248070.6_Frame_Shift_Del_p.L18fs|EPS15L1_ENST00000594975.1_Frame_Shift_Del_p.L18fs NM_001258376.1 NP_001245305.1 Q9UBC2 EP15R_HUMAN epidermal growth factor receptor pathway substrate 15-like 1 18 EH 1. endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway coated pit|nucleus|plasma membrane calcium ion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(4)|skin(2) 30 AGATTCATACAACGAATTTCC 0.428 12 22 --- --- --- --- RPS4Y1 6192 broad.mit.edu 37 Y 2751725 2751741 + RNA DEL AGCCTGCATGGTTTTCA AGCCTGCATGGTTTTCA - TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chrY:2751725_2751741delAGCCTGCATGGTTTTCA ENST00000515575.1 + 0 42 CTACTCTTCCAGCCTGCATGGTTTTCAAGCCTGCAGC 0.419 6 3 --- --- --- ---