Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values validation_method t_ref_count validation_status validation_tumor_sample t_alt_count validation_alt_allele pox qox pox_cutoff isArtifactMode oxoGCut GRIN2B 2904 broad.mit.edu 37 12 13906573 13906573 + Missense_Mutation SNP G A A TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr12:13906573G>A uc001rbt.2 - 2 867 c.688C>T c.(688-690)Ctt>Ttt p.L230F NM_000834 NP_000825 Q13224 NMDE2_HUMAN Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2B (GRIN2B), mRNA. 230 response to ethanol N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|glycine binding|zinc ion binding NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1) 143 Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) GTACAGTAAAGAAGAATGATG 0.512000 92 12 0 0 0.010729 0 0 KIF19 124602 broad.mit.edu 37 17 72338125 72338125 + Splice_Site SNP G T T TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr17:72338125G>T uc002jkm.4 + 3 369 c.231_splice c.e3+1 p.Q77_splice KIF19_uc002jkj.2_Splice_Site_p.Q77_splice|KIF19_uc002jkk.2_Splice_Site_p.Q77_splice|KIF19_uc002jkl.2_Splice_Site_p.Q77_splice NM_153209 NP_694941 Q2TAC6 KIF19_HUMAN Homo sapiens kinesin family member 19 (KIF19), mRNA. 77 Kinesin-motor. microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 41 CCGCCACCCAGGTGAGGGAGG 0.667000 81 29 2.65835e-16 2.84475e-16 0.007291 1 0 C6orf15 29113 broad.mit.edu 37 6 31079719 31079719 + Silent SNP G A A TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr6:31079719G>A uc003nsk.1 - 1 417 c.417C>T c.(415-417)tcC>tcT p.S139S PSORS1C1_uc003nsl.2_5'Flank|PSORS1C1_uc010jsj.2_5'Flank NM_014070 NP_054789 Q6UXA7 CF015_HUMAN Homo sapiens chromosome 6 open reading frame 15 (C6orf15), mRNA. 139 endometrium(3)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|stomach(1) 17 CCGCAGCACTGGAGAGGTAAG 0.642000 57 15 0 0 0.004990 0 0 MIR323B 574410 broad.mit.edu 37 14 101522630 101522630 + RNA SNP C T T TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr14:101522630C>T uc021sdn.1 + 0 c.75C>T Homo sapiens microRNA 323b (MIR323B), microRNA. GACCTCTTTTCGGTATCAGAT 0.512000 13 4 0 0 0.009096 0 0 MST1R 4486 broad.mit.edu 37 3 49933251 49933251 + Silent SNP G A A TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr3:49933251G>A uc003cxy.4 - 11 3123 c.2859C>T c.(2857-2859)gtC>gtT p.V953V MST1R_uc011bdc.2_Silent_p.V904V NM_002447 NP_002438 Q04912 RON_HUMAN Homo sapiens macrophage stimulating 1 receptor (c-met-related tyrosine kinase) (MST1R), transcript variant 1, mRNA. 953 cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|macrophage colony-stimulating factor receptor activity|protein binding cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3) 37 BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625) TGCTCTGTGGGACCCCATCTG 0.622000 48 10 0 0 0.008291 0 0 PELP1 27043 broad.mit.edu 37 17 4576337 4576337 + Missense_Mutation SNP G A A TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr17:4576337G>A uc002fyi.4 - 15 2175 c.1949C>T c.(1948-1950)cCa>cTa p.P650L PELP1_uc010vsf.2_Missense_Mutation_p.P503L NM_014389 NP_055204 Q8IZL8 PELP1_HUMAN Homo sapiens proline, glutamate and leucine rich protein 1 (PELP1), mRNA. 650 Pro-rich. transcription, DNA-dependent MLL1 complex|cytoplasm protein binding breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 15 AGGGGGAACTGGAGCAGGTGT 0.682000 49 14 0 0 0.001855 0 0 KIAA0247 9766 broad.mit.edu 37 14 70171398 70171398 + Missense_Mutation SNP C T T TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr14:70171398C>T uc001xlk.3 + 3 713 c.397C>T c.(397-399)Ctc>Ttc p.L133F KIAA0247_uc010aqz.3_Missense_Mutation_p.L108F NM_014734 NP_055549 Q92537 K0247_HUMAN Homo sapiens KIAA0247 (KIAA0247), mRNA. 133 integral to membrane endometrium(1)|kidney(1)|lung(4)|ovary(3)|upper_aerodigestive_tract(1) 10 all cancers(60;0.00155)|BRCA - Breast invasive adenocarcinoma(234;0.0164)|OV - Ovarian serous cystadenocarcinoma(108;0.0196) GGCGCTCATTCTCCTCCTCGT 0.527000 43 14 0 0 0.001855 0 0 PAPPA 5069 broad.mit.edu 37 9 118949888 118949888 + Missense_Mutation SNP G A A TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr9:118949888G>A uc004bjn.3 + 1 1252 c.871G>A c.(871-873)Gac>Aac p.D291N PAPPA_uc011lxp.1_Missense_Mutation_p.D84N|PAPPA_uc011lxq.2_Missense_Mutation_p.D84N NM_002581 NP_002572 Q13219 PAPP1_HUMAN Homo sapiens pregnancy-associated plasma protein A, pappalysin 1 (PAPPA), mRNA. 291 Metalloprotease. 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 GGAGAACTGGGACAATGTGAA 0.582000 38 22 0 0 0.010504 0 0 ITGA2B 3674 broad.mit.edu 37 17 42463233 42463233 + Missense_Mutation SNP C T T TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr17:42463233C>T uc002igt.1 - 2 399 c.367G>A c.(367-369)Gga>Aga p.G123R NM_000419 NP_000410 P08514 ITA2B_HUMAN Homo sapiens integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41) (ITGA2B), mRNA. 123 axon guidance|integrin-mediated signaling pathway|platelet activation|platelet degranulation integrin complex|platelet alpha granule membrane identical protein binding|receptor activity biliary_tract(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 36 Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.191) Tirofiban(DB00775) GCCCCCAGTCCTTGGCGGGCC 0.642000 20 3 0 0 0.004672 0 0 MRPL42 28977 broad.mit.edu 37 12 93881291 93881291 + Missense_Mutation SNP C T T TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr12:93881291C>T uc021rbv.1 + 5 417 c.238C>T c.(238-240)Cct>Tct p.P80S MRPL42_uc001tct.3_Non-coding_Transcript|MRPL42_uc001tcq.3_Missense_Mutation_p.P80S|MRPL42_uc001tcs.3_Missense_Mutation_p.P80S|MRPL42_uc001tcr.3_Missense_Mutation_p.P80S Q9Y6G3 RM42_HUMAN Homo sapiens mitochondrial ribosomal protein L42 (MRPL42), transcript variant 4, non-coding RNA. 80 translation mitochondrial small ribosomal subunit structural constituent of ribosome breast(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(2) 7 TCGGCCAGATCCTGTGCATAA 0.373000 58 9 0 0 0.006214 0 0 TTN 7273 broad.mit.edu 37 2 179554041 179554041 + Missense_Mutation SNP C T T TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr2:179554041C>T uc021vsy.1 - 120 28480 c.28255G>A c.(28255-28257)Gaa>Aaa p.E9419K TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.E6080K|TTN_uc010fre.1_Missense_Mutation_p.E530K NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 10346 Ig-like 77. 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) GGAACTTCTTCCTCCTTCCGA 0.378000 53 10 0 0 0.008291 0 0 SELE 6401 broad.mit.edu 37 1 169695858 169695858 + Missense_Mutation SNP G A A TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr1:169695858G>A uc001ggm.4 - 10 1892 c.1735C>T c.(1735-1737)Cgg>Tgg p.R579W C1orf112_uc001ggj.3_Intron NM_000450 NP_000441 P16581 LYAM2_HUMAN Homo sapiens selectin E (SELE), mRNA. 579 actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 32 all_hematologic(923;0.208) AAGCATTTCCGAAGCCAGAGG 0.418000 48 7 0 0 0.003080 0 0 NRAS 4893 broad.mit.edu 37 1 115256530 115256530 + Missense_Mutation SNP G T T rs121913254 TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr1:115256530G>T uc009wgu.3 - 2 435 c.181C>A c.(181-183)Caa>Aaa p.Q61K NM_002524 NP_002515 P01111 RASN_HUMAN Homo sapiens neuroblastoma RAS viral (v-ras) oncogene homolog (NRAS), mRNA. 61 Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290). Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway Golgi membrane|plasma membrane GTP binding|GTPase activity p.Q61K(1229)|p.Q61R(898)|p.Q61L(198)|p.Q61H(123)|p.Q61P(23)|p.Q61E(18)|p.G60E(6)|p.Q61?(5)|p.Q61Q(3)|p.G60>?(2)|p.G60R(1)|p.Q61*(1)|p.Q61_E62>HK(1) NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13) 3085 all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211) all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) 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) 136 34 2.42023e-17 2.59786e-17 0.003271 1 0 FRG1B 284802 broad.mit.edu 37 20 29628251 29628251 + Missense_Mutation SNP A G G TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr20:29628251A>G uc010ztl.1 + 2 195 c.163A>G c.(163-165)Aat>Gat p.N55D FRG1B_uc002wvm.1_Non-coding_Transcript|FRG1B_uc010ztj.1_Non-coding_Transcript|FRG1B_uc010gdr.1_Non-coding_Transcript|FRG1B_uc010ztk.1_Missense_Mutation_p.N7D Homo sapiens FSHD region gene 1 family, member B (FRG1B), non-coding RNA. p.N85D(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GTTGGCCTCAAATAGCTGCTT 0.358000 50 5 0 0 0.000602 0 0 MORC1 27136 broad.mit.edu 37 3 108819355 108819355 + Splice_Site SNP C T T TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr3:108819355C>T uc003dxl.3 - 5 311 c.224_splice c.e5-1 p.E75_splice MORC1_uc011bhn.2_Splice_Site_p.E75_splice NM_014429 NP_055244 Q86VD1 MORC1_HUMAN Homo sapiens MORC family CW-type zinc finger 1 (MORC1), mRNA. 75 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 GAAGCTTCCTCTGTAATTGAC 0.443000 50 16 0 0 0.003163 0 0 PLCB4 5332 broad.mit.edu 37 20 9404476 9404476 + Missense_Mutation SNP C T T TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr20:9404476C>T uc021wam.1 + 23 2380 c.2365C>T c.(2365-2367)Ctt>Ttt p.L789F PLCB4_uc010gbw.1_Missense_Mutation_p.L789F|PLCB4_uc010gbx.3_Missense_Mutation_p.L801F|PLCB4_uc021wal.1_Missense_Mutation_p.L789F|PLCB4_uc002wnh.3_Missense_Mutation_p.L636F NM_000933 NP_000924 Q15147 PLCB4_HUMAN Homo sapiens phospholipase C, beta 4 (PLCB4), transcript variant 1, mRNA. 789 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 GATCCTCCCGCTTGATGGCCT 0.448000 24 8 0 0 0.003080 0 0 SH3TC2 79628 broad.mit.edu 37 5 148384390 148384390 + Missense_Mutation SNP C T T TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr5:148384390C>T uc003lpu.3 - 16 3903 c.3751G>A c.(3751-3753)Gac>Aac p.D1251N SH3TC2_uc003lpp.1_Intron|SH3TC2_uc010jgw.3_Missense_Mutation_p.D895N|SH3TC2_uc003lps.3_Non-coding_Transcript|SH3TC2_uc003lpt.3_Missense_Mutation_p.D798N|SH3TC2_uc010jgx.3_Missense_Mutation_p.D1244N NM_024577 NP_078853 Q8TF17 S3TC2_HUMAN Homo sapiens SH3 domain and tetratricopeptide repeats 2 (SH3TC2), mRNA. 1251 binding p.Q1250L(1) breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 39 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTAATGGTGTCCTGAAGCTCC 0.632000 38 19 0 0 0.007413 0 0 CCNT1 904 broad.mit.edu 37 12 49087393 49087393 + Missense_Mutation SNP A G G TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr12:49087393A>G uc001rsd.4 - 8 1927 c.1604T>C c.(1603-1605)gTt>gCt p.V535A CCNT1_uc009zkz.2_Missense_Mutation_p.V250A|CCNT1_uc021qxk.1_5'Flank NM_001240 NP_001231 O60563 CCNT1_HUMAN Homo sapiens cyclin T1 (CCNT1), mRNA. 535 cell cycle|cell division|interspecies interaction between organisms|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction nucleoplasm DNA binding|protein kinase binding breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|skin(2) 27 CCCAGTACCAACTGGAAGTTG 0.428000 182 66 0 0 0.014410 0 0 PAPPA2 60676 broad.mit.edu 37 1 176679284 176679284 + Missense_Mutation SNP C T T TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr1:176679284C>T uc001gkz.3 + 10 4787 c.3623C>T c.(3622-3624)tCc>tTc p.S1208F PAPPA2_uc009www.3_Non-coding_Transcript NM_020318 NP_064714 Q9BXP8 PAPP2_HUMAN Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA. 1208 cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1) 226 TGTCCTGTTTCCTTGGTAACT 0.463000 93 21 0 0 0.003330 0 0 E2F8 79733 broad.mit.edu 37 11 19246915 19246915 + Silent SNP G A A TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr11:19246915G>A uc001mpm.3 - 11 2796 c.2274C>T c.(2272-2274)atC>atT p.I758I E2F8_uc009yhv.3_Non-coding_Transcript|E2F8_uc001mpn.4_Silent_p.I758I NM_024680 NP_078956 A0AVK6 E2F8_HUMAN Homo sapiens E2F transcription factor 8 (E2F8), transcript variant 1, mRNA. 758 cell cycle transcription factor complex DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 ACACAGGAACGATTCCAGACC 0.537000 92 34 0 0 0.010818 0 0 GRIP2 80852 broad.mit.edu 37 3 14552688 14552688 + Missense_Mutation SNP C T T TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr3:14552688C>T uc021wtn.1 - 17 2206 c.2206G>A c.(2206-2208)Gac>Aac p.D736N GRIP2_uc010heh.3_Non-coding_Transcript NM_001080423 NP_001073892 Q9C0E4 GRIP2_HUMAN Homo sapiens glutamate receptor interacting protein 2 (GRIP2), mRNA. 640 PDZ 6. synaptic transmission cytosol|plasma membrane protein binding endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1) 25 TTGTCCTCGTCCTTCCGGATC 0.597000 24 7 0 0 0.001984 0 0 ZNF200 7752 broad.mit.edu 37 16 3274148 3274148 + Missense_Mutation SNP G A A TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr16:3274148G>A uc002cuj.2 - 4 1564 c.932C>T c.(931-933)tCt>tTt p.S311F ZNF200_uc002cum.3_Missense_Mutation_p.S310F|ZNF200_uc002cuk.2_Missense_Mutation_p.S311F|ZNF200_uc010bti.2_Missense_Mutation_p.S310F|ZNF200_uc002cui.2_Missense_Mutation_p.S310F|ZNF200_uc002cul.3_Missense_Mutation_p.S310F NM_003454 NP_932354 P98182 ZN200_HUMAN Homo sapiens zinc finger protein 200 (ZNF200), transcript variant 1, mRNA. 311 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding breast(2)|kidney(2)|large_intestine(4)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 17 TCCACACTGAGAACAGGAATA 0.388000 99 33 0 0 0.003755 0 0 RPE65 6121 broad.mit.edu 37 1 68906623 68906623 + Missense_Mutation SNP C T T TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr1:68906623C>T uc001dei.1 - 5 610 c.556G>A c.(556-558)Gat>Aat p.D186N NM_000329 NP_000320 Q16518 RPE65_HUMAN Homo sapiens retinal pigment epithelium-specific protein 65kDa (RPE65), mRNA. 186 visual perception cytoplasm|plasma membrane all-trans-retinyl-palmitate hydrolase activity|metal ion binding|retinol isomerase activity central_nervous_system(1)|kidney(3)|large_intestine(12)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 35 ACGGTTCCATCATTTTCAATG 0.413000 30 7 0 0 0.001984 0 0 ING3 54556 broad.mit.edu 37 7 120590817 120590817 + Splice_Site SNP T C C TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr7:120590817T>C uc003vjn.3 + 1 1 c.-133_splice c.e1-1 ING3_uc011knr.1_Splice_Site|ING3_uc003vjl.3_Splice_Site|ING3_uc003vjm.1_Splice_Site|ING3_uc003vjo.3_Splice_Site|ING3_uc003vjp.3_Splice_Site|ING3_uc011kns.2_5'Flank NM_019071 NP_061944 Q9NXR8 ING3_HUMAN Homo sapiens inhibitor of growth family, member 3 (ING3), transcript variant 1, mRNA. histone H2A acetylation|histone H4 acetylation|positive regulation of apoptosis|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent NuA4 histone acetyltransferase complex|Piccolo NuA4 histone acetyltransferase complex zinc ion binding NS(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1) 12 all_neural(327;0.117) tttttttttcttttttttttt 0.542000 9 4 0 0 0.009096 0 0 FREM1 158326 broad.mit.edu 37 9 14859389 14859389 + Silent SNP C T T TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr9:14859389C>T uc003zlm.3 - 4 1239 c.423G>A c.(421-423)gtG>gtA p.V141V FREM1_uc010mic.3_Non-coding_Transcript NM_144966 NP_659403 Q5H8C1 FREM1_HUMAN Homo sapiens FRAS1 related extracellular matrix 1 (FREM1), transcript variant 1, mRNA. 141 cell communication|multicellular organismal development basement membrane|integral to membrane metal ion binding|sugar binding breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 GBM - Glioblastoma multiforme(50;3.53e-06) GCACCTCCAGCACATTGTTAC 0.428000 85 43 0 0 0.010771 0 0 MLL3 58508 broad.mit.edu 37 7 151962163 151962163 + Missense_Mutation SNP C T T TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr7:151962163C>T uc003wla.3 - 7 1363 c.1144G>A c.(1144-1146)Ggt>Agt p.G382S NM_170606 NP_733751 Q8NEZ4 MLL3_HUMAN Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA. 382 intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent DNA binding|protein binding|zinc ion binding NS(6)|biliary_tract(9)|breast(24)|central_nervous_system(18)|cervix(6)|endometrium(31)|haematopoietic_and_lymphoid_tissue(1)|kidney(26)|large_intestine(52)|liver(1)|lung(102)|ovary(10)|pancreas(17)|prostate(15)|skin(20)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(8)|urinary_tract(15) 365 all_neural(206;0.187) all_hematologic(28;0.0592)|Prostate(32;0.0906) OV - Ovarian serous cystadenocarcinoma(82;0.00715) UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462) CATTGCCAACCTGCACGTTTT 0.443000 N medulloblastoma 223 9 0 0 0.010729 0 0 KIAA1109 84162 broad.mit.edu 37 4 123132086 123132086 + Nonsense_Mutation SNP C T T TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr4:123132086C>T uc003ieh.3 + 17 2128 c.2083C>T c.(2083-2085)Cag>Tag p.Q695* KIAA1109_uc003iei.1_Nonsense_Mutation_p.Q449*|KIAA1109_uc010ins.1_Nonsense_Mutation_p.Q39*|KIAA1109_uc003iej.1_Nonsense_Mutation_p.Q80* NM_015312 NP_056127 Q2LD37 K1109_HUMAN Homo sapiens KIAA1109 (KIAA1109), mRNA. 695 regulation of cell growth|regulation of epithelial cell differentiation integral to membrane|nucleus breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3) 172 AAGGCCATCCCAGAAGACATC 0.398000 30 9 0 0 0.004482 0 0 AK092965 0 broad.mit.edu 37 17 40468734 40468734 + Missense_Mutation SNP G A A TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr17:40468734G>A uc010cyf.1 - 0 136 c.112C>T c.(112-114)Cac>Tac p.H38Y STAT3_uc002hzk.1_Intron|STAT3_uc002hzl.1_Intron|STAT3_uc002hzm.1_Intron|STAT3_uc010wgh.1_Intron|STAT3_uc002hzn.1_Intron|STAT3_uc021txs.1_5'Flank Homo sapiens cDNA FLJ35646 fis, clone SPLEN2012743. CTCTCGGTGTGTACATGTGAG 0.468000 10 4 0 0 0.009096 0 0 SLC24A6 80024 broad.mit.edu 37 12 113748108 113748108 + Silent SNP G A A rs138371135 TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr12:113748108G>A uc001tvc.3 - 11 1398 c.1188C>T c.(1186-1188)atC>atT p.I396I SLC24A6_uc001tuz.3_Silent_p.I101I|SLC24A6_uc001tva.3_Non-coding_Transcript|SLC24A6_uc001tvb.3_Silent_p.I134I NM_024959 NP_079235 Q6J4K2 NCKX6_HUMAN Homo sapiens solute carrier family 24 (sodium/potassium/calcium exchanger), member 6 (SLC24A6), mRNA. 396 response to stimulus|sodium ion transport integral to membrane|plasma membrane calcium:cation antiporter activity p.I396I(2) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(3)|skin(1) 16 CTGTGCCTGCGATCACCACCA 0.587000 58 24 0 0 0.003954 0 0 FGF19 9965 broad.mit.edu 37 11 69514100 69514100 + Missense_Mutation SNP G A A TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr11:69514100G>A uc001opf.3 - 2 1043 c.581C>T c.(580-582)aCc>aTc p.T194I NM_005117 NP_005108 O95750 FGF19_HUMAN Homo sapiens fibroblast growth factor 19 (FGF19), mRNA. 194 fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|negative regulation of bile acid biosynthetic process|nervous system development|positive regulation of ERK1 and ERK2 cascade|positive regulation of JNK cascade|positive regulation of cell proliferation|positive regulation of glucose import extracellular region fibroblast growth factor receptor binding|growth factor activity large_intestine(2)|lung(2)|skin(2) 6 all_cancers(3;5.53e-114)|all_epithelial(3;1.34e-121)|Breast(3;9.28e-34)|all_lung(4;1.99e-21)|Lung NSC(4;4.65e-21)|Hepatocellular(3;6.15e-15)|Melanoma(5;1.89e-05)|Ovarian(3;0.0348) Epithelial(3;3.05e-56)|all cancers(3;2.69e-50)|Lung(3;1.13e-16)|LUSC - Lung squamous cell carcinoma(11;3.74e-15)|STAD - Stomach adenocarcinoma(18;0.0278)|LUAD - Lung adenocarcinoma(13;0.0537) CATGCTGTCGGTCTCCAGGGG 0.592000 38 24 0 0 0.002780 0 0 ROS1 6098 broad.mit.edu 37 6 117683825 117683825 + Missense_Mutation SNP G A A TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr6:117683825G>A uc003pxp.1 - 20 3521 c.3322C>T c.(3322-3324)Ccc>Tcc p.P1108S ROS1_uc011ebi.1_Non-coding_Transcript|ROS1_uc003pxq.1_Intron NM_002944 NP_002935 P08922 ROS_HUMAN Homo sapiens c-ros oncogene 1 , receptor tyrosine kinase (ROS1), mRNA. 1108 Fibronectin type-III 5. transmembrane receptor protein tyrosine kinase signaling pathway membrane fraction|sodium:potassium-exchanging ATPase complex ATP binding|transmembrane receptor protein tyrosine kinase activity TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7) NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 162 all_cancers(87;0.00846)|all_epithelial(87;0.0242) GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137) ATCACTGAGGGAGTGACATTG 0.363000 T """GOPC, SDC4, SLC34A2, EZR, LRIG3""" """glioblastoma, NSCLC""" 19 12 0 0 0.010729 0 0 OR4K17 390436 broad.mit.edu 37 14 20586324 20586324 + Silent SNP C T T TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr14:20586324C>T uc001vwo.1 + 0 759 c.759C>T c.(757-759)ctC>ctT p.L253L NM_001004715 NP_001004715 Q8NGC6 OR4KH_HUMAN Homo sapiens olfactory receptor, family 4, subfamily K, member 17 (OR4K17), mRNA. 225 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|skin(3) 21 all_cancers(95;0.00108) Epithelial(56;7.58e-07)|all cancers(55;3.77e-06) GBM - Glioblastoma multiforme(265;0.0144) GTCTGATCCTCATAACCATTA 0.423000 77 20 0 0 0.008871 0 0 LAMB4 22798 broad.mit.edu 37 7 107703417 107703417 + Silent SNP G A A rs151001135 by1000genomes TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr7:107703417G>A uc010ljo.1 - 22 3168 c.3084C>T c.(3082-3084)ggC>ggT p.G1028G LAMB4_uc003vey.2_Silent_p.G1028G|LAMB4_uc010ljp.1_5'UTR NM_007356 NP_031382 A4D0S4 LAMB4_HUMAN Homo sapiens laminin, beta 4 (LAMB4), mRNA. 1028 Laminin EGF-like 11. cell adhesion basement membrane NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4) 97 TGGGACTCACGCCGGAAGCAT 0.517000 22 14 0 0 0.004007 0 0 DNAH2 146754 broad.mit.edu 37 17 7710496 7710496 + Silent SNP C T T TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr17:7710496C>T uc002giu.1 + 60 9485 c.9471C>T c.(9469-9471)atC>atT p.I3157I DNAH2_uc010cnm.1_Silent_p.I95I NM_020877 NP_065928 Q9P225 DYH2_HUMAN Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA. 3157 Stalk (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1) 189 all_cancers(10;4.66e-07)|Prostate(122;0.081) AGTCACTGATCAACTTTGATA 0.498000 128 32 0 0 0.010818 0 0 CCDC40 55036 broad.mit.edu 37 17 78063627 78063627 + Missense_Mutation SNP T C C TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr17:78063627T>C uc010dht.3 + 16 2807 c.2776T>C c.(2776-2778)Tcc>Ccc p.S926P CCDC40_uc021uem.1_Missense_Mutation_p.S926P|CCDC40_uc002jxm.4_Missense_Mutation_p.S709P|CCDC40_uc002jxn.4_Missense_Mutation_p.S322P NM_017950 NP_060420 Q4G0X9 CCD40_HUMAN Homo sapiens coiled-coil domain containing 40 (CCDC40), transcript variant 1, mRNA. 926 axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility cilium|cytoplasm NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1) 38 all_neural(118;0.167) OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149) CTCAGTGGATTCCGAGATCGG 0.547000 30 8 0 0 0.003080 0 0 RBL1 5933 broad.mit.edu 37 20 35690648 35690648 + Missense_Mutation SNP C G G TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr20:35690648C>G uc002xgi.3 - 7 1001 c.922G>C c.(922-924)Gag>Cag p.E308Q RBL1_uc002xgj.1_Missense_Mutation_p.E308Q|RBL1_uc010gfv.1_Non-coding_Transcript NM_002895 NP_002886 P28749 RBL1_HUMAN Homo sapiens retinoblastoma-like 1 (p107) (RBL1), transcript variant 1, mRNA. 308 cell cycle|chromatin modification|interspecies interaction between organisms|regulation of cell cycle|regulation of lipid kinase activity|transcription, DNA-dependent transcription factor binding NS(1)|breast(1)|endometrium(7)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1) 42 Myeloproliferative disorder(115;0.00878) AGAACATACTCTTCATACTCC 0.373000 26 13 0 0 0.002450 0 0 EEF1D 1936 broad.mit.edu 37 8 144671343 144671343 + Silent SNP G A A TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr8:144671343G>A uc003yyq.2 - 0 1288 c.1059C>T c.(1057-1059)ccC>ccT p.P353P EEF1D_uc003yyp.2_Silent_p.P303P|EEF1D_uc011lki.2_Intron|EEF1D_uc003yyv.3_Intron|EEF1D_uc003yyu.3_Intron|EEF1D_uc011lkk.2_Intron|EEF1D_uc003yyt.3_Silent_p.P303P|EEF1D_uc003yyr.3_Silent_p.P303P|EEF1D_uc003yys.3_Intron|EEF1D_uc011lkl.2_Intron NM_032378 NP_115754 P29692 EF1D_HUMAN Homo sapiens eukaryotic translation elongation factor 1 delta (guanine nucleotide exchange protein) (EEF1D), transcript variant 1, mRNA. 0 positive regulation of I-kappaB kinase/NF-kappaB cascade cytosol|eukaryotic translation elongation factor 1 complex protein binding|signal transducer activity|translation elongation factor activity breast(2)|cervix(1)|endometrium(1)|kidney(4)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 14 all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239) AGTAACAGTAGGGCAAGGCAG 0.716000 37 12 0 0 0.010729 0 0 BSND 7809 broad.mit.edu 37 1 55465016 55465016 + Missense_Mutation SNP A C C TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr1:55465016A>C uc001cye.3 + 0 400 c.157A>C c.(157-159)Atg>Ctg p.M53L NM_057176 NP_476517 Q8WZ55 BSND_HUMAN Homo sapiens Bartter syndrome, infantile, with sensorineural deafness (Barttin) (BSND), mRNA. 53 basolateral plasma membrane|cytoplasm|integral to plasma membrane|protein complex cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 17 CATCTGGAGCATGTGCCAGTG 0.632000 47 17 0 0 0.007413 0 0 WFDC8 90199 broad.mit.edu 37 20 44190781 44190781 + Nonsense_Mutation SNP C T T TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr20:44190781C>T uc002xow.3 - 1 183 c.104G>A c.(103-105)tGg>tAg p.W35* WFDC8_uc002xox.3_Nonsense_Mutation_p.W35*|5S_rRNA_uc021wek.1_5'Flank NM_181510 NP_852611 Q8IUA0 WFDC8_HUMAN Homo sapiens WAP four-disulfide core domain 8 (WFDC8), transcript variant b, mRNA. 35 extracellular region serine-type endopeptidase inhibitor activity central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|stomach(1)|upper_aerodigestive_tract(1) 15 Myeloproliferative disorder(115;0.0122) TGCAGAAGTCCACTCCAAAGC 0.478000 31 8 0 0 0.006214 0 0 CR1 1378 broad.mit.edu 37 1 207737264 207737264 + Missense_Mutation SNP C A A TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr1:207737264C>A uc001hfy.3 + 13 2432 c.2292C>A c.(2290-2292)gaC>gaA p.D764E CR1_uc009xcl.1_Intron|CR1_uc001hfx.3_Missense_Mutation_p.D1214E|CR1_uc021pij.1_Missense_Mutation_p.D764E|CR1_uc009xck.1_Intron NM_000573 NP_000564 P17927 CR1_HUMAN Homo sapiens complement component (3b/4b) receptor 1 (Knops blood group) (CR1), transcript variant F, mRNA. 764 Sushi 12. 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 GGGACAAGGACAACTTTTCAC 0.547000 96 12 0.00152264 0.00160978 0.010504 1 0 MXRA5 25878 broad.mit.edu 37 X 3238689 3238689 + Silent SNP G A A TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chrX:3238689G>A uc004crg.4 - 4 5194 c.5037C>T c.(5035-5037)tcC>tcT p.S1679S NM_015419 NP_056234 Q9NR99 MXRA5_HUMAN Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA. 1679 extracellular region NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2) 157 all_lung(23;0.00031)|Lung NSC(23;0.000946) TGCTGGGTTTGGACATGTGCA 0.418000 63 69 0 0 0.014410 0 0 C16orf46 123775 broad.mit.edu 37 16 81095571 81095571 + Missense_Mutation SNP C T T TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr16:81095571C>T uc002fgc.4 - 3 642 c.383G>A c.(382-384)aGc>aAc p.S128N C16orf46_uc010chf.3_Missense_Mutation_p.S128N|C16orf46_uc010vno.2_5'UTR NM_152337 NP_689550 Q6P387 CP046_HUMAN Homo sapiens chromosome 16 open reading frame 46 (C16orf46), transcript variant 2, mRNA. 128 NS(1)|endometrium(2)|large_intestine(3)|lung(9)|prostate(1)|stomach(1)|urinary_tract(1) 18 GGAGGGGCTGCTCTGATCCTT 0.602000 103 41 0 0 0.006230 0 0 GNPAT 8443 broad.mit.edu 37 1 231402070 231402070 + Silent SNP C T T TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr1:231402070C>T uc001hup.4 + 7 1178 c.972C>T c.(970-972)atC>atT p.I324I GNPAT_uc009xfp.3_Silent_p.I263I NM_014236 NP_055051 O15228 GNPAT_HUMAN Homo sapiens glyceronephosphate O-acyltransferase (GNPAT), mRNA. 324 ether lipid biosynthetic process|fatty acid metabolic process|organ morphogenesis peroxisomal matrix|peroxisomal membrane glycerone-phosphate O-acyltransferase activity breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1) 23 Breast(184;0.0871) all_cancers(173;0.2)|Prostate(94;0.183) TTGGAAGCATCCATGTGTACT 0.428000 44 23 0 0 0.002780 0 0 CLEC4M 10332 broad.mit.edu 37 19 7830709 7830709 + Missense_Mutation SNP G A A TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr19:7830709G>A uc010dvt.3 + 3 518 c.400G>A c.(400-402)Gag>Aag p.E134K CLEC4M_uc010xjv.1_Missense_Mutation_p.E106K|CLEC4M_uc002mhy.2_Missense_Mutation_p.E78K|CLEC4M_uc002mih.3_Intron|CLEC4M_uc010xjw.2_Missense_Mutation_p.E113K|CLEC4M_uc010dvs.3_Intron|CLEC4M_uc010xjx.2_Intron|CLEC4M_uc002mhz.3_Missense_Mutation_p.E134K|CLEC4M_uc002mic.3_Missense_Mutation_p.E106K|CLEC4M_uc002mia.3_Missense_Mutation_p.E113K NM_001144909 NP_001138381 Q9H2X3 CLC4M_HUMAN Homo sapiens C-type lectin domain family 4, member M (CLEC4M), transcript variant 9, mRNA. 134 7 X approximate tandem repeats. cell-cell recognition|endocytosis|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor cytoplasm|extracellular region|integral to plasma membrane ICAM-3 receptor activity|mannose binding|metal ion binding|peptide antigen binding|virion binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(1) 26 CAAGCTGCAGGAGATCTACCA 0.577000 82 26 0 0 0.004878 0 0 DSE 29940 broad.mit.edu 37 6 116757091 116757091 + Missense_Mutation SNP C T T TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr6:116757091C>T uc011ebg.2 + 5 1616 c.1517C>T c.(1516-1518)tCc>tTc p.S506F DSE_uc003pws.3_Missense_Mutation_p.S487F|DSE_uc003pwt.3_Missense_Mutation_p.S487F|DSE_uc003pwu.3_Missense_Mutation_p.S154F NM_013352 NP_037484 Q9UL01 DSE_HUMAN Homo sapiens dermatan sulfate epimerase (DSE), transcript variant 1, mRNA. 487 dermatan sulfate biosynthetic process Golgi apparatus|endoplasmic reticulum|integral to membrane chondroitin-glucuronate 5-epimerase activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 35 all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234) Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262) TTGATGTTTTCCCCAGCTGTG 0.453000 55 11 0 0 0.010729 0 0 ASXL3 80816 broad.mit.edu 37 18 31324785 31324785 + Missense_Mutation SNP G A A TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr18:31324785G>A uc010dmg.1 + 11 5028 c.4973G>A c.(4972-4974)aGg>aAg p.R1658K ASXL3_uc002kxq.2_Missense_Mutation_p.R1365K NM_030632 NP_085135 Q9C0F0 ASXL3_HUMAN Homo sapiens additional sex combs like 3 (Drosophila) (ASXL3), mRNA. 1658 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1) 43 CTTCATCCCAGGAATCTTGTA 0.433000 61 12 0 0 0.010729 0 0 IFIT3 3437 broad.mit.edu 37 10 91099144 91099144 + Silent SNP C T T TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr10:91099144C>T uc001kgf.3 + 1 961 c.732C>T c.(730-732)ctC>ctT p.L244L LIPA_uc001kgb.4_Intron|LIPA_uc001kgc.4_Intron|BC040833_uc001kgd.3_Intron|IFIT3_uc001kgg.3_Silent_p.L244L NM_001549 NP_001540 O14879 IFIT3_HUMAN Homo sapiens interferon-induced protein with tetratricopeptide repeats 3 (IFIT3), transcript variant 1, mRNA. 244 type I interferon-mediated signaling pathway protein binding breast(1)|central_nervous_system(3)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)|urinary_tract(1) 15 CAGATGTCCTCCGCAGTGCAG 0.443000 23 14 0 0 0.003163 0 0 ZBTB46 140685 broad.mit.edu 37 20 62384102 62384102 + Silent SNP G A A TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr20:62384102G>A uc002ygv.2 - 3 1536 c.1335C>T c.(1333-1335)ccC>ccT p.P445P ZBTB46_uc002ygu.3_Non-coding_Transcript NM_025224 NP_079500 Q86UZ6 ZBT46_HUMAN Homo sapiens zinc finger and BTB domain containing 46 (ZBTB46), mRNA. 445 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding endometrium(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 24 all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09) CGCAGGGGTAGGGCCGCTCTC 0.652000 20 12 0 0 0.013537 0 0 GPR98 84059 broad.mit.edu 37 5 90046440 90046440 + Missense_Mutation SNP G A A TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr5:90046440G>A uc003kju.3 + 52 11143 c.11047G>A c.(11047-11049)Gga>Aga p.G3683R GPR98_uc003kjt.3_Missense_Mutation_p.G1389R|GPR98_uc003kjv.3_Missense_Mutation_p.G1283R NM_032119 NP_115495 Q8WXG9 GPR98_HUMAN Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA. 3683 cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane G-protein coupled receptor activity|calcium ion binding NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6) 269 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) ACGCTTAAAAGGAACATATGG 0.363000 86 47 0 0 0.014410 0 0 ZFC3H1 196441 broad.mit.edu 37 12 72027980 72027980 + Missense_Mutation SNP A G G TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr12:72027980A>G uc001swo.2 - 11 2824 c.2465T>C c.(2464-2466)gTt>gCt p.V822A NM_144982 NP_659419 O60293 ZC3H1_HUMAN Homo sapiens zinc finger, C3H1-type containing (ZFC3H1), mRNA. 822 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 CTGCTTAGTAACCATTGCTAT 0.378000 40 9 0 0 0.004482 0 0 RPTOR 57521 broad.mit.edu 37 17 78867523 78867523 + Silent SNP G A A TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr17:78867523G>A uc002jyt.1 + 19 3064 c.2259G>A c.(2257-2259)gcG>gcA p.A753A RPTOR_uc010wug.1_Silent_p.A595A NM_020761 NP_065812 Q8N122 RPTOR_HUMAN Homo sapiens regulatory associated protein of MTOR, complex 1 (RPTOR), transcript variant 1, mRNA. 753 TOR signaling cascade|cell cycle arrest|cell growth|cellular response to amino acid stimulus|cellular response to nutrient levels|insulin receptor signaling pathway|positive regulation of TOR signaling cascade|positive regulation of protein serine/threonine kinase activity TORC1 complex|cytosol|lysosome protein complex binding breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3) 44 GCGCGGTGGCGTTCTCCCCCG 0.607000 38 21 0 0 0.008871 0 0 VWA7 80737 broad.mit.edu 37 6 31735259 31735259 + Missense_Mutation SNP G A A TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr6:31735259G>A uc011dog.2 - 11 1907 c.1669C>T c.(1669-1671)Cct>Tct p.P557S VWA7_uc003nxd.2_Missense_Mutation_p.P232S NM_025258 NP_079534 Q9Y334 G7C_HUMAN Homo sapiens von Willebrand factor A domain containing 7 (VWA7), mRNA. 557 extracellular region TGACCTAGAGGACCCCCGCCT 0.582000 232 93 0 0 0.014410 0 0 TMTC2 160335 broad.mit.edu 37 12 83251132 83251132 + Missense_Mutation SNP G T T TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr12:83251132G>T uc001szt.3 + 1 859 c.427G>T c.(427-429)Ggg>Tgg p.G143W TMTC2_uc001szr.1_Missense_Mutation_p.G143W|TMTC2_uc001szs.1_Missense_Mutation_p.G143W|TMTC2_uc010suk.2_Intron NM_152588 NP_689801 Q8N394 TMTC2_HUMAN Homo sapiens transmembrane and tetratricopeptide repeat containing 2 (TMTC2), mRNA. 143 endoplasmic reticulum|integral to membrane binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|urinary_tract(1) 39 AGCCGATGTCGGGGCCAGTCT 0.547000 27 11 2.27731e-05 2.41491e-05 0.012319 1 0 ZNF226 7769 broad.mit.edu 37 19 44680393 44680393 + Silent SNP G A A TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr19:44680393G>A uc002oys.3 + 5 1158 c.978G>A c.(976-978)caG>caA p.Q326Q ZNF226_uc002oyp.3_Silent_p.Q326Q|ZNF226_uc002oyq.3_Silent_p.Q209Q|ZNF226_uc002oyr.3_Silent_p.Q209Q|ZNF226_uc002oyt.3_Silent_p.Q326Q NM_001032372 NP_001027545 Q9NYT6 ZN226_HUMAN Homo sapiens zinc finger protein 226 (ZNF226), transcript variant 1, mRNA. 326 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding Prostate(69;0.0352)|all_neural(266;0.202) AGACCCATCAGAAAGTCCACG 0.438000 53 10 0 0 0.008291 0 0 SPTB 6710 broad.mit.edu 37 14 65239370 65239370 + Silent SNP G A A TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr14:65239370G>A uc001xht.3 - 24 5532 c.5481C>T c.(5479-5481)gaC>gaT p.D1827D SPTB_uc001xhr.3_Silent_p.D1827D|SPTB_uc001xhs.3_Silent_p.D1827D|SPTB_uc001xhu.3_Silent_p.D1827D|SPTB_uc010aqi.3_Silent_p.D488D NM_000347 NP_000338 P11277 SPTB1_HUMAN Homo sapiens spectrin, beta, erythrocytic (SPTB), transcript variant 2, mRNA. 1827 actin filament capping|axon guidance cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton actin filament binding|structural constituent of cytoskeleton breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3) 106 all_lung(585;4.15e-09) all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628) CCGTGCTGGCGTCCAGCCCCA 0.682000 75 24 0 0 0.006320 0 0 CHD6 84181 broad.mit.edu 37 20 40033911 40033911 + Silent SNP G A A TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr20:40033911G>A uc002xka.1 - 36 7648 c.7470C>T c.(7468-7470)atC>atT p.I2490I CHD6_uc002xjz.1_Silent_p.I27I NM_032221 NP_115597 Q8TD26 CHD6_HUMAN Homo sapiens chromodomain helicase DNA binding protein 6 (CHD6), mRNA. 2490 chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ATP binding|ATP-dependent helicase activity|DNA binding|chromatin binding breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9) 129 Myeloproliferative disorder(115;0.00425) CGGTGAGGGGGATGCCTGGCA 0.557000 68 18 0 0 0.007413 0 0 ZNF229 7772 broad.mit.edu 37 19 44933324 44933324 + Silent SNP G A A TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr19:44933324G>A uc002oze.1 - 5 2066 c.1632C>T c.(1630-1632)ccC>ccT p.P544P ZNF229_uc010ejk.1_Silent_p.P198P|ZNF229_uc010ejl.1_Silent_p.P538P NM_014518 NP_055333 Q9UJW7 ZN229_HUMAN Homo sapiens zinc finger protein 229 (ZNF229), mRNA. 544 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) CGCATTTGTAGGGTTTCTCTC 0.512000 75 24 0 0 0.014323 0 0 ZNF438 220929 broad.mit.edu 37 10 31138347 31138347 + Missense_Mutation SNP T C C TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr10:31138347T>C uc010qdz.2 - 6 1422 c.987A>G c.(985-987)atA>atG p.I329M ZNF438_uc001ivn.3_Missense_Mutation_p.I280M|ZNF438_uc010qdy.2_Missense_Mutation_p.I319M|ZNF438_uc001ivo.4_5'UTR|ZNF438_uc009xlg.3_Missense_Mutation_p.I329M|ZNF438_uc001ivp.4_Missense_Mutation_p.I319M|ZNF438_uc010qea.2_Missense_Mutation_p.I329M|ZNF438_uc010qeb.2_Missense_Mutation_p.I329M|ZNF438_uc010qec.1_5'UTR NM_182755 NP_001137241 Q7Z4V0 ZN438_HUMAN Homo sapiens zinc finger protein 438 (ZNF438), transcript variant 2, mRNA. 329 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(15)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 Prostate(175;0.0587) TGGTGGAGGGTATCTTATCAC 0.463000 25 21 0 0 0.010504 0 0 CREBBP 1387 broad.mit.edu 37 16 3828061 3828061 + Silent SNP C T T TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr16:3828061C>T uc002cvv.3 - 9 2268 c.2064G>A c.(2062-2064)ccG>ccA p.P688P CREBBP_uc002cvw.3_Silent_p.P650P NM_004380 NP_004371 Q92793 CBP_HUMAN Homo sapiens CREB binding protein (CREBBP), transcript variant 1, mRNA. 688 N-terminal peptidyl-lysine acetylation|cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|protein complex assembly|response to hypoxia cytoplasm|nuclear body MyoD binding|histone acetyltransferase activity|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding p.P688A(2)|p.A690fs*5(1) NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21) 295 Ovarian(90;0.0266) OV - Ovarian serous cystadenocarcinoma(1;3.54e-05) GCTGAGCCCCCGGGGCTGGTA 0.483000 """T, N, F, Mis, O""" """MLL, MORF, RUNXBP2""" """ALL, AML, DLBCL, B-NHL """ Rubinstein-Taybi syndrome 156 60 0 0 0.014410 0 0 RYR2 6262 broad.mit.edu 37 1 237791232 237791232 + Missense_Mutation SNP C T T TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr1:237791232C>T uc001hyl.1 + 40 6412 c.6292C>T c.(6292-6294)Ctt>Ttt p.L2098F NM_001035 NP_001026 Q92736 RYR2_HUMAN Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA. 2098 4 X approximate repeats. 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) CATTGGGGGTCTTGTTCGGGC 0.572000 47 11 0 0 0.008291 0 0 MARCO 8685 broad.mit.edu 37 2 119749416 119749416 + Missense_Mutation SNP G A A TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr2:119749416G>A uc002tln.1 + 13 1304 c.1172G>A c.(1171-1173)gGa>gAa p.G391E MARCO_uc010yyf.1_Missense_Mutation_p.G313E NM_006770 NP_006761 Q9UEW3 MARCO_HUMAN Homo sapiens macrophage receptor with collagenous structure (MARCO), mRNA. 391 Collagen-like. cell surface receptor linked signaling pathway|innate immune response collagen|integral to plasma membrane pattern recognition receptor activity|scavenger receptor activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 70 GGAGCCCCTGGACAAGCTGGC 0.582000 26 5 0 0 0.000602 0 0 ARNTL 406 broad.mit.edu 37 11 13393916 13393916 + Missense_Mutation SNP C G G TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr11:13393916C>G uc001mkr.3 + 12 1435 c.1027C>G c.(1027-1029)Cgg>Ggg p.R343G ARNTL_uc001mko.3_Missense_Mutation_p.R299G|ARNTL_uc001mkp.3_Missense_Mutation_p.R342G|ARNTL_uc001mkq.3_Missense_Mutation_p.R342G|ARNTL_uc001mks.3_Missense_Mutation_p.R300G|ARNTL_uc001mkt.3_Missense_Mutation_p.R343G|ARNTL_uc009ygm.1_Intron|ARNTL_uc001mkv.1_Missense_Mutation_p.R300G|ARNTL_uc001mkw.3_Missense_Mutation_p.R300G|ARNTL_uc001mkx.3_Missense_Mutation_p.R341G NM_001178 NP_001169 O00327 BMAL1_HUMAN Homo sapiens aryl hydrocarbon receptor nuclear translocator-like (ARNTL), transcript variant 1, mRNA. 343 PAS 2. circadian rhythm|positive regulation of transcription from RNA polymerase II promoter transcription factor complex DNA binding|Hsp90 protein binding|aryl hydrocarbon receptor binding|sequence-specific DNA binding transcription factor activity|signal transducer activity p.H343H(1) breast(1)|endometrium(2)|large_intestine(11)|lung(5)|upper_aerodigestive_tract(1) 20 Epithelial(150;0.0243) ATATGTTTCTCGGCACGCGAT 0.443000 47 18 0 0 0.007413 0 0 abParts 0 broad.mit.edu 37 14 106237751 106237751 + RNA SNP G A A TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr14:106237751G>A uc001ysh.1 - 0 c.1363C>T abParts_uc021ser.1_Splice_Site|DKFZp686O16217_uc001yrs.3_Intron|DKFZp686O16217_uc001yrt.3_Intron|IGHE_uc001yrw.1_Intron|IGHE_uc001yrx.2_Intron|IGHE_uc001yrz.2_Intron|IGHG1_uc001yse.3_Intron|abParts_uc001ysi.1_Non-coding_Transcript Homo sapiens mRNA for FLJ00385 protein. AGCTGCAAGAGAGATGGCGCC 0.677000 42 15 0 0 0.004990 0 0 OR4P4 81300 broad.mit.edu 37 11 55406375 55406375 + Missense_Mutation SNP C T T TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr11:55406375C>T uc010rij.2 + 0 542 c.542C>T c.(541-543)cCt>cTt p.P181L NM_001004124 NP_001004124 Q8NGL7 OR4P4_HUMAN Homo sapiens olfactory receptor, family 4, subfamily P, member 4 (OR4P4), mRNA. 181 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.P181P(1) autonomic_ganglia(1)|central_nervous_system(1)|kidney(4)|large_intestine(4)|lung(28)|ovary(1)|upper_aerodigestive_tract(1) 40 GATGTGTATCCTTTGCTGAAA 0.388000 52 7 0 0 0.001984 0 0 NFIX 4784 broad.mit.edu 37 19 13136228 13136228 + Missense_Mutation SNP C T T TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr19:13136228C>T uc010xmx.2 + 1 498 c.445C>T c.(445-447)Ccc>Tcc p.P149S NFIX_uc002mwd.3_Missense_Mutation_p.P141S|NFIX_uc002mwe.3_Missense_Mutation_p.P133S|NFIX_uc002mwf.3_Missense_Mutation_p.P144S|NFIX_uc002mwg.2_Missense_Mutation_p.P140S Q14938 NFIX_HUMAN Homo sapiens nuclear factor I/X (CCAAT-binding transcription factor) (NFIX), mRNA. 141 DNA replication|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1) 11 OV - Ovarian serous cystadenocarcinoma(19;8.2e-22) TAAGGGGATCCCCCTGGAAAG 0.587000 32 9 0 0 0.006214 0 0 VPS13B 157680 broad.mit.edu 37 8 100789097 100789097 + Missense_Mutation SNP C T T TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr8:100789097C>T uc003yiv.3 + 40 7528 c.7417C>T c.(7417-7419)Cca>Tca p.P2473S VPS13B_uc003yiw.3_Missense_Mutation_p.P2448S NM_017890 NP_060360 Q7Z7G8 VP13B_HUMAN Homo sapiens vacuolar protein sorting 13 homolog B (yeast) (VPS13B), transcript variant 5, mRNA. 2473 protein transport NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9) 193 Breast(36;3.73e-07) OV - Ovarian serous cystadenocarcinoma(57;0.00636) CTGCTTTACCCCATGGTTTGT 0.483000 99 33 0 0 0.013726 0 0 TBX21 30009 broad.mit.edu 37 17 45822322 45822322 + Nonsense_Mutation SNP C T T TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr17:45822322C>T uc002ilv.1 + 5 1409 c.1198C>T c.(1198-1200)Cga>Tga p.R400* NM_013351 NP_037483 Q9UL17 TBX21_HUMAN Homo sapiens T-box 21 (TBX21), mRNA. 400 lymphocyte migration|multicellular organismal development|positive regulation of transcription, DNA-dependent|response to virus nucleus sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding p.R400*(2) NS(1)|endometrium(1)|large_intestine(3)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 22 GGCTGAGTTTCGAGCAGTCAG 0.652000 76 26 0 0 0.004656 0 0 UGT2B15 7366 broad.mit.edu 37 4 69533889 69533889 + Missense_Mutation SNP A G G TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr4:69533889A>G uc021xow.1 - 1 900 c.742T>C c.(742-744)Ttt>Ctt p.F248L NM_001076 NP_001067 P54855 UDB15_HUMAN Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B15 (UGT2B15), mRNA. 248 steroid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity ATTGTCTCAAATAATGTAGTG 0.373000 65 22 0 0 0.006320 0 0 MYCBPAP 84073 broad.mit.edu 37 17 48599398 48599398 + Missense_Mutation SNP G A A TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr17:48599398G>A uc010wmr.2 + 9 1504 c.1342G>A c.(1342-1344)Ggg>Agg p.G448R MYCBPAP_uc002iqz.3_Non-coding_Transcript NM_032133 NP_115509 Q8TBZ2 MYBPP_HUMAN Homo sapiens MYCBP associated protein (MYCBPAP), mRNA. 411 cell differentiation|multicellular organismal development|spermatogenesis|synaptic transmission cytoplasm|membrane protein binding breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(8)|ovary(4)|pancreas(1)|skin(2)|urinary_tract(2) 31 Breast(11;1.23e-18) BRCA - Breast invasive adenocarcinoma(22;1.23e-09) GCTGTTCTGTGGGAAGCCAGC 0.537000 53 28 0 0 0.009535 0 0 PRAMEF1 65121 broad.mit.edu 37 1 12854245 12854245 + Missense_Mutation SNP G A A TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr1:12854245G>A uc001auj.2 + 2 572 c.469G>A c.(469-471)Gaa>Aaa p.E157K NM_023013 NP_075389 O95521 PRAM1_HUMAN Homo sapiens PRAME family member 1 (PRAMEF1), mRNA. 157 cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 35 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) CTGCCTCAAGGAAATACCCCA 0.493000 282 55 0 0 0.014410 0 0 CLDN6 9074 broad.mit.edu 37 16 3065388 3065388 + Missense_Mutation SNP G A A TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr16:3065388G>A uc021tbb.1 - 0 635 c.635C>T c.(634-636)tCt>tTt p.S212F CLDN6_uc002csu.4_Missense_Mutation_p.S212F NM_021195 NP_067018 P56747 CLD6_HUMAN Homo sapiens claudin 6 (CLDN6), mRNA. 212 calcium-independent cell-cell adhesion integral to membrane|tight junction identical protein binding|structural molecule activity kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 10 AGGGTACTCAGAGGGCCCCCG 0.632000 87 24 0 0 0.004656 0 0 SRCIN1 80725 broad.mit.edu 37 17 36704930 36704930 + Missense_Mutation SNP C T T TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr17:36704930C>T uc002hqd.3 - 16 3358 c.3133G>A c.(3133-3135)Gag>Aag p.E1045K SRCIN1_uc002hqf.1_Missense_Mutation_p.E917K|SRCIN1_uc002hqe.2_Missense_Mutation_p.E899K NM_025248 NP_079524 Q9C0H9 SRCN1_HUMAN Homo sapiens SRC kinase signaling inhibitor 1 (SRCIN1), mRNA. 917 exocytosis|negative regulation of protein tyrosine kinase activity|positive regulation of protein tyrosine kinase activity|regulation of cell migration|regulation of dendritic spine morphogenesis|substrate adhesion-dependent cell spreading actin cytoskeleton|axon|cell junction|cytoplasm|dendrite|postsynaptic density|postsynaptic membrane protein kinase binding endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1) 19 ACCTCCAGCTCCTCGGACTCA 0.667000 26 7 0 0 0.001984 0 0 PAF1 54623 broad.mit.edu 37 19 39876822 39876822 + Nonsense_Mutation SNP C A A TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr19:39876822C>A uc002old.3 - 13 1580 c.1405G>T c.(1405-1407)Gag>Tag p.E469* PAF1_uc010xuv.2_Non-coding_Transcript|PAF1_uc002ole.1_Missense_Mutation_p.M397I NM_019088 NP_061961 Q8N7H5 PAF1_HUMAN Homo sapiens Paf1, RNA polymerase II associated factor, homolog (S. cerevisiae) (PAF1), mRNA. 469 histone H2B ubiquitination|histone monoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent Cdc73/Paf1 complex protein binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|urinary_tract(2) 17 all_cancers(60;9.14e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.88e-06)|Ovarian(47;0.0512) Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199) CCTCTGTCCTCATCATCAGAG 0.617000 127 43 3.66854e-30 3.96203e-30 0.007835 1 0 NPC1L1 29881 broad.mit.edu 37 7 44574088 44574088 + Silent SNP G A A TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr7:44574088G>A uc003tlb.3 - 5 2180 c.2124C>T c.(2122-2124)tcC>tcT p.S708S NPC1L1_uc011kbw.2_Silent_p.S708S|NPC1L1_uc003tlc.3_Silent_p.S708S|NPC1L1_uc003tld.3_Silent_p.S708S NM_013389 NP_037521 Q9UHC9 NPCL1_HUMAN Homo sapiens NPC1 (Niemann-Pick disease, type C1, gene)-like 1 (NPC1L1), transcript variant 1, mRNA. 708 SSD. cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane hedgehog receptor activity|protein binding p.S708S(2) breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 57 Ezetimibe(DB00973) CAGCCCCCACGGACAGCACCA 0.562000 OREG0018038 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 80 28 0 0 0.006320 0 0 IRX1 79192 broad.mit.edu 37 5 3599720 3599720 + Missense_Mutation SNP G A A TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr5:3599720G>A uc003jde.3 + 1 710 c.658G>A c.(658-660)Gac>Aac p.D220N NM_024337 NP_077313 P78414 IRX1_HUMAN Homo sapiens iroquois homeobox 1 (IRX1), mRNA. 220 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity biliary_tract(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|prostate(5)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 43 GGCCGAGGACGACGAGGAGAT 0.617000 31 16 0 0 0.004007 0 0 ODZ1 10178 broad.mit.edu 37 X 123871026 123871026 + Missense_Mutation SNP T C C TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chrX:123871026T>C uc010nqy.3 - 3 621 c.557A>G c.(556-558)aAc>aGc p.N186S ODZ1_uc011muj.2_Missense_Mutation_p.N186S|ODZ1_uc004euj.3_Missense_Mutation_p.N186S NM_001163278 NP_001156750 Q9UKZ4 TEN1_HUMAN Homo sapiens odz, odd Oz/ten-m homolog 1 (Drosophila) (ODZ1), transcript variant 1, mRNA. 186 Teneurin N-terminal. immune response|negative regulation of cell proliferation|nervous system development|signal transduction extracellular region heparin binding NS(4)|breast(7)|cervix(3)|endometrium(23)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(36)|liver(1)|lung(93)|ovary(13)|pancreas(3)|prostate(2)|skin(10)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2) 212 GGTGAACTGGTTGTGTGGGCT 0.552000 16 11 0 0 0.008291 0 0 SUGP2 10147 broad.mit.edu 37 19 19114993 19114993 + Silent SNP G T T TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr19:19114993G>T uc002nkz.1 - 6 2975 c.2955C>A c.(2953-2955)ctC>ctA p.L985L SUGP2_uc002nkx.2_Silent_p.L971L|SUGP2_uc002nla.1_Silent_p.L971L|SUGP2_uc002nlb.2_Silent_p.L971L|SUGP2_uc010xqk.1_Silent_p.L740L NM_014884 NP_055699 Q8IX01 SUGP2_HUMAN Homo sapiens SURP and G patch domain containing 2 (SUGP2), transcript variant 2, mRNA. 971 RNA splicing|mRNA processing nucleus RNA binding NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 43 GCTCCTGGATGAGACACACTC 0.552000 73 17 1.45105e-14 1.54808e-14 0.006122 1 0 ACTRT1 139741 broad.mit.edu 37 X 127186130 127186130 + Missense_Mutation SNP C T T TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chrX:127186130C>T uc004eum.3 - 0 253 c.56G>A c.(55-57)gGa>gAa p.G19E NM_138289 NP_612146 Q8TDG2 ACTT1_HUMAN Homo sapiens actin-related protein T1 (ACTRT1), mRNA. 19 cytoplasm|cytoskeleton breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3) 34 TTTGCAGAGTCCTGAACCATT 0.428000 14 13 0 0 0.003163 0 0 NNT 23530 broad.mit.edu 37 5 43656142 43656142 + Missense_Mutation SNP A C C TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr5:43656142A>C uc003joe.3 + 14 2515 c.2260A>C c.(2260-2262)Agt>Cgt p.S754R NNT_uc003jof.3_Missense_Mutation_p.S754R NM_012343 NP_892022 Q13423 NNTM_HUMAN Homo sapiens nicotinamide nucleotide transhydrogenase (NNT), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 754 tricarboxylic acid cycle integral to membrane|mitochondrial respiratory chain NAD binding|NAD(P)+ transhydrogenase (AB-specific) activity|NAD(P)+ transhydrogenase (B-specific) activity|NADP binding breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 Lung NSC(6;2.58e-06) NADH(DB00157) CGTCACCTTTAGTGGGTCTCT 0.413000 49 20 0 0 0.014323 0 0 CHMP7 91782 broad.mit.edu 37 8 23117720 23117720 + Missense_Mutation SNP C T T TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr8:23117720C>T uc003xdc.2 + 9 1832 c.1184C>T c.(1183-1185)cCt>cTt p.P395L CHMP7_uc003xdd.2_Missense_Mutation_p.P285L|CHMP7_uc003xde.2_Missense_Mutation_p.L233F NM_152272 NP_689485 Q8WUX9 CHMP7_HUMAN Homo sapiens charged multivesicular body protein 7 (CHMP7), mRNA. 395 cellular membrane organization|late endosome to vacuole transport ESCRT III complex|cytosol protein transporter activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1) 11 Prostate(55;0.0513) Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632) ACCAAAGAACCTTTGGATCTG 0.438000 74 16 0 0 0.007413 0 0 ITGA5 3678 broad.mit.edu 37 12 54799035 54799035 + Silent SNP G A A TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr12:54799035G>A uc001sga.3 - 11 1208 c.1140C>T c.(1138-1140)acC>acT p.T380T ITGA5_uc010sow.1_Non-coding_Transcript|ITGA5_uc009znp.1_Non-coding_Transcript NM_002205 NP_002196 P08648 ITA5_HUMAN Homo sapiens integrin, alpha 5 (fibronectin receptor, alpha polypeptide) (ITGA5), mRNA. 380 angiogenesis|axon guidance|blood coagulation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|wound healing, spreading of epidermal cells alphav-beta3 integrin-vitronectin complex|integrin complex|ruffle platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2) 34 TGAGGGTAAGGGTGGGCGTGG 0.642000 74 28 0 0 0.004656 0 0 NAA25 80018 broad.mit.edu 37 12 112499075 112499075 + Silent SNP A G G TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr12:112499075A>G uc001ttm.3 - 11 1325 c.1267T>C c.(1267-1269)Tta>Cta p.L423L NAA25_uc001ttn.4_Non-coding_Transcript|NAA25_uc009zvz.2_Silent_p.L395L|NAA25_uc009zwa.2_Silent_p.L423L NM_024953 NP_079229 Q14CX7 NAA25_HUMAN Homo sapiens N(alpha)-acetyltransferase 25, NatB auxiliary subunit (NAA25), mRNA. 423 cytoplasm protein binding autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4) 46 AAGCCAAGTAACCTCGTCAGC 0.473000 28 15 0 0 0.002450 0 0 CACNB4 785 broad.mit.edu 37 2 152698602 152698602 + Splice_Site SNP C T T TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr2:152698602C>T uc002tya.3 - 13 1185 c.1117_splice c.e13-1 p.E373_splice CACNB4_uc002txy.3_Splice_Site_p.E339_splice|CACNB4_uc002txz.3_Splice_Site_p.E355_splice|CACNB4_uc010fnz.3_Intron NM_000726 NP_000717 O00305 CACB4_HUMAN Homo sapiens calcium channel, voltage-dependent, beta 4 subunit (CACNB4), transcript variant 2, mRNA. 373 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) TCAAACATTTCCTGTAGATGA 0.388000 21 9 0 0 0.006214 0 0 DRD5 1816 broad.mit.edu 37 4 9784435 9784435 + Missense_Mutation SNP C T T TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr4:9784435C>T uc003gmb.4 + 0 1178 c.782C>T c.(781-783)tCc>tTc p.S261F NM_000798 NP_000789 P21918 DRD5_HUMAN Homo sapiens dopamine receptor D5 (DRD5), mRNA. 261 activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic integral to plasma membrane NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1) 57 Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624) AGGATTTCCTCCCTGGAGAGG 0.627000 44 17 0 0 0.004007 0 0 WASH2P 375260 broad.mit.edu 37 2 114355998 114355998 + Missense_Mutation SNP C G G TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr2:114355998C>G uc002tkh.3 + 4 674 c.616C>G c.(616-618)Cac>Gac p.H206D WASH2P_uc002tka.3_Non-coding_Transcript|WASH2P_uc002tkd.3_Non-coding_Transcript Homo sapiens WAS protein family homolog 2 pseudogene (WASH2P), non-coding RNA. CCAAGGTGGGCACTTGATGTC 0.612000 9 3 0 0 0.004672 0 0 CATSPERG 57828 broad.mit.edu 37 19 38860873 38860873 + Missense_Mutation SNP C T T TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr19:38860873C>T uc002oih.4 + 27 3275 c.3188C>T c.(3187-3189)cCc>cTc p.P1063L CATSPERG_uc002oig.4_Missense_Mutation_p.P1023L|CATSPERG_uc002oif.4_Missense_Mutation_p.P703L|CATSPERG_uc010efw.3_Non-coding_Transcript NM_021185 NP_067008 Q6ZRH7 CTSRG_HUMAN Homo sapiens cation channel, sperm-associated, gamma (CATSPERG), mRNA. 1063 cell differentiation|multicellular organismal development|spermatogenesis integral to membrane breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|pancreas(2)|prostate(6)|skin(3)|stomach(1)|urinary_tract(2) 40 CCACTCAGTCCCAAGCGGGCC 0.607000 32 6 0 0 0.001168 0 0 DLGAP2 9228 broad.mit.edu 37 8 1626557 1626557 + Silent SNP G A A TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr8:1626557G>A uc003wpl.3 + 8 2323 c.2226G>A c.(2224-2226)cgG>cgA p.R742R DLGAP2_uc003wpm.3_Silent_p.R728R NM_004745 NP_004736 Q9P1A6 DLGP2_HUMAN Homo sapiens discs, large (Drosophila) homolog-associated protein 2 (DLGAP2), mRNA. 821 neuron-neuron synaptic transmission cell junction|neurofilament|postsynaptic density|postsynaptic membrane protein binding breast(1)|endometrium(6)|lung(31)|prostate(3) 41 Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846) BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171) GAACTGTACGGACCCAGGGGC 0.632000 37 11 0 0 0.008291 0 0 TMEM102 284114 broad.mit.edu 37 17 7339603 7339604 + Missense_Mutation DNP GG AA AA TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr17:7339603_7339604GG>AA uc002ggx.1 + 2 578_579 c.305_306GG>AA c.(304-306)ggg>gAA p.G102E SPEM1_uc010vtw.1_Intron|TMEM102_uc002ggy.2_Missense_Mutation_p.G102E NM_178518 NP_848613 Q8N9M5 TM102_HUMAN Homo sapiens transmembrane protein 102 (TMEM102), mRNA. 102 regulation of apoptosis|response to cytokine stimulus|signal transduction cell surface|integral to membrane|intracellular protein binding kidney(1)|lung(3)|skin(1) 5 Prostate(122;0.173) CTGGATCTGGGGCATGCACCCC 0.609000 56 16 0 0 0.004672 0 0 WBSCR17 64409 broad.mit.edu 37 7 70880973 70880973 + Missense_Mutation SNP C T T TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr7:70880973C>T uc003tvy.3 + 3 688 c.688C>T c.(688-690)Cgc>Tgc p.R230C WBSCR17_uc003tvz.3_5'UTR NM_022479 NP_071924 Q6IS24 GLTL3_HUMAN Homo sapiens Williams-Beuren syndrome chromosome region 17 (WBSCR17), mRNA. 230 Catalytic subdomain A. Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding p.R230H(1)|p.R230L(1) NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 100 all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125) GATCCGCGCTCGCATTGAGGG 0.577000 64 15 0 0 0.003163 0 0 OR4N5 390437 broad.mit.edu 37 14 20612314 20612314 + Silent SNP C T T TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr14:20612314C>T uc010tla.2 + 0 420 c.420C>T c.(418-420)gcC>gcT p.A140A NM_001004724 NP_001004724 Q8IXE1 OR4N5_HUMAN Homo sapiens olfactory receptor, family 4, subfamily N, member 5 (OR4N5), mRNA. 140 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|lung(23)|ovary(1)|skin(2)|urinary_tract(1) 29 all_cancers(95;0.00108) Epithelial(56;7.58e-07)|all cancers(55;3.84e-06) GBM - Glioblastoma multiforme(265;0.0143) ACCCTAGAGCCTGCTATGCAT 0.512000 172 37 0 0 0.006999 0 0 CNNM4 26504 broad.mit.edu 37 2 97428012 97428012 + Missense_Mutation SNP G A A TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr2:97428012G>A uc002swx.3 + 0 1374 c.1276G>A c.(1276-1278)Gac>Aac p.D426N NM_020184 NP_064569 Q6P4Q7 CNNM4_HUMAN Homo sapiens cyclin M4 (CNNM4), mRNA. 426 CBS 1. biomineral tissue development|ion transport|response to stimulus|visual perception integral to membrane|plasma membrane breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(2) 20 CTACGTCAAAGACTTGGCCTT 0.498000 88 31 0 0 0.004878 0 0 MC2R 4158 broad.mit.edu 37 18 13884885 13884885 + Silent SNP G A A TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr18:13884885G>A uc002ksp.1 - 1 810 c.633C>T c.(631-633)ccC>ccT p.P211P MC2R_uc021uhs.1_Silent_p.P211P NM_000529 NP_000520 Q01718 ACTHR_HUMAN Homo sapiens melanocortin 2 receptor (adrenocorticotropic hormone) (MC2R), mRNA. 211 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) TGTTGGCTCTGGGGAGGGTGG 0.557000 42 12 0 0 0.010729 0 0 MAG 4099 broad.mit.edu 37 19 35801452 35801452 + Nonsense_Mutation SNP C T T TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr19:35801452C>T uc002nyy.2 + 8 1720 c.1522C>T c.(1522-1524)Cga>Tga p.R508* MAG_uc002nyx.2_Nonsense_Mutation_p.R508*|MAG_uc010eds.2_Nonsense_Mutation_p.R483*|MAG_uc002nyz.2_Nonsense_Mutation_p.R508* NM_002361 NP_001186145 P20916 MAG_HUMAN Homo sapiens myelin associated glycoprotein (MAG), transcript variant 1, mRNA. 508 Ig-like C2-type 4. blood coagulation|cell adhesion|leukocyte migration|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway integral to membrane|plasma membrane sugar binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(11)|skin(2)|upper_aerodigestive_tract(2) 34 all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162) Renal(1328;0.242) Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417) GTCCTCAGATCGACTGATGTG 0.562000 44 12 0 0 0.010729 0 0 REG1P 5969 broad.mit.edu 37 2 79363984 79363984 + RNA SNP C T T TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr2:79363984C>T uc002soa.1 - 3 c.330G>A REG1P_uc002sob.1_Non-coding_Transcript|REG1P_uc002soc.1_Non-coding_Transcript Homo sapiens mRNA for Reg-related sequence derived peptide-1, complete cds. ATCAGCGAAGCCACAAAGGCA 0.512000 37 7 0 0 0.001984 0 0 FAM75D1 389763 broad.mit.edu 37 9 84603755 84603755 + Missense_Mutation SNP C G G TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr9:84603755C>G uc004amn.3 + 0 69 c.22C>G c.(22-24)Ctg>Gtg p.L8V NM_001001670 NP_001001670 Q6ZQQ2 F75D1_HUMAN Homo sapiens family with sequence similarity 75, member D1 (FAM75D1), mRNA. 8 integral to membrane cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(57)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1) 88 CCTCTGTTTTCTGAACAGCTA 0.493000 62 11 0 0 0.013537 0 0 MICALL2 79778 broad.mit.edu 37 7 1482004 1482004 + Missense_Mutation SNP G A A TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr7:1482004G>A uc003skj.4 - 6 1682 c.1535C>T c.(1534-1536)tCg>tTg p.S512L MICALL2_uc003ski.4_5'UTR NM_182924 NP_891554 Q8IY33 MILK2_HUMAN Homo sapiens MICAL-like 2 (MICALL2), transcript variant 1, mRNA. 512 cytoplasm|cytoskeleton zinc ion binding breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(8)|ovary(2)|skin(2) 19 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;6.01e-15) TTCCATCCTCGAAGGGAGGCC 0.632000 161 60 0 0 0.014410 0 0 IL4R 3566 broad.mit.edu 37 16 27374945 27374945 + Missense_Mutation SNP C T T TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr16:27374945C>T uc002don.3 + 10 2514 c.2272C>T c.(2272-2274)Ccc>Tcc p.P758S IL4R_uc002dop.4_Missense_Mutation_p.P743S|IL4R_uc010bxy.3_Missense_Mutation_p.P758S|IL4R_uc002doo.3_Missense_Mutation_p.P598S NM_000418 NP_000409 P24394 IL4RA_HUMAN Homo sapiens interleukin 4 receptor (IL4R), transcript variant 1, mRNA. 758 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 CCCTACAACCCCCCTGAGGGC 0.637000 37 21 0 0 0.008871 0 0 PDILT 204474 broad.mit.edu 37 16 20380984 20380984 + Missense_Mutation SNP C T T TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr16:20380984C>T uc002dhc.1 - 7 1169 c.946G>A c.(946-948)Gaa>Aaa p.E316K NM_174924 NP_777584 Q8N807 PDILT_HUMAN Homo sapiens protein disulfide isomerase-like, testis expressed (PDILT), mRNA. 316 cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis endoplasmic reticulum isomerase activity p.E316K(2) breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1) 61 TTTCTGGGTTCGTCTGCATCC 0.473000 66 24 0 0 0.003330 0 0 NDN 4692 broad.mit.edu 37 15 23931648 23931648 + Silent SNP G A A TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr15:23931648G>A uc001ywk.3 - 0 803 c.717C>T c.(715-717)ttC>ttT p.F239F NM_002487 NP_002478 Q99608 NECD_HUMAN Homo sapiens necdin homolog (mouse) (NDN), mRNA. 239 MAGE. negative regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|perikaryon DNA binding p.F239L(2) breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|skin(1) 39 all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14) all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153) TCATTTGGACGAACTCCTCAG 0.607000 Prader-Willi syndrome 47 9 0 0 0.006214 0 0 DSCAML1 57453 broad.mit.edu 37 11 117335778 117335778 + Missense_Mutation SNP C T T TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr11:117335778C>T uc001prh.1 - 16 3327 c.3325G>A c.(3325-3327)Gag>Aag p.E1109K NM_020693 NP_065744 Q8TD84 DSCL1_HUMAN Homo sapiens Down syndrome cell adhesion molecule like 1 (DSCAML1), mRNA. 1049 Fibronectin type-III 3. axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion cell surface|integral to membrane|plasma membrane protein homodimerization activity breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 110 all_hematologic(175;0.0487) Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232) BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172) GTGTAGACCTCGCTGTCCCCC 0.607000 96 43 0 0 0.011902 0 0 FAM5C 339479 broad.mit.edu 37 1 190129815 190129815 + Silent SNP G A A TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr1:190129815G>A uc001gse.1 - 6 1399 c.1167C>T c.(1165-1167)atC>atT p.I389I FAM5C_uc010pot.1_Silent_p.I287I NM_199051 NP_950252 Q76B58 FAM5C_HUMAN Homo sapiens family with sequence similarity 5, member C (FAM5C), mRNA. 389 extracellular region NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2) 164 Prostate(682;0.198) TTGGCAGGCTGATGAGGGGTT 0.378000 77 13 0 0 0.003163 0 0 OR5P3 120066 broad.mit.edu 37 11 7846870 7846870 + Missense_Mutation SNP G A A TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr11:7846870G>A uc010rbg.2 - 0 650 c.650C>T c.(649-651)tCc>tTc p.S217F NM_153445 NP_703146 Q8WZ94 OR5P3_HUMAN Homo sapiens olfactory receptor, family 5, subfamily P, member 3 (OR5P3), mRNA. 217 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1) 15 Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189) ATAGATGTAGGATATGGCTAT 0.473000 48 19 0 0 0.010504 0 0 WFDC8 90199 broad.mit.edu 37 20 44181907 44181907 + Missense_Mutation SNP C T T TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr20:44181907C>T uc002xow.3 - 4 533 c.454G>A c.(454-456)Gga>Aga p.G152R WFDC8_uc002xox.3_Missense_Mutation_p.G152R NM_181510 NP_852611 Q8IUA0 WFDC8_HUMAN Homo sapiens WAP four-disulfide core domain 8 (WFDC8), transcript variant b, mRNA. 152 WAP 2. extracellular region serine-type endopeptidase inhibitor activity central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|stomach(1)|upper_aerodigestive_tract(1) 15 Myeloproliferative disorder(115;0.0122) GGGCATTGTCCATCCTTAACT 0.468000 30 7 0 0 0.004482 0 0 C7orf62 219557 broad.mit.edu 37 7 88423585 88423585 + Missense_Mutation SNP C T T TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr7:88423585C>T uc003ujv.3 - 1 854 c.672G>A c.(670-672)atG>atA p.M224I ZNF804B_uc011khi.2_Intron|C7orf62_uc022ahc.1_Missense_Mutation_p.M224I NM_152706 NP_689919 Q8TBZ9 CG062_HUMAN Homo sapiens chromosome 7 open reading frame 62 (C7orf62), mRNA. 224 NS(1)|breast(1)|endometrium(3)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 30 TTGCCGGGTCCATGAATTCTT 0.443000 56 13 0 0 0.013537 0 0 CMA1 1215 broad.mit.edu 37 14 24976699 24976699 + Silent SNP C T T TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr14:24976699C>T uc001wpp.1 - 1 102 c.72G>A c.(70-72)ggG>ggA p.G24G CMA1_uc010alx.1_Intron NM_001836 NP_001827 P23946 CMA1_HUMAN Homo sapiens chymase 1, mast cell (CMA1), mRNA. 24 Peptidase S1. interleukin-1 beta biosynthetic process|proteolysis extracellular region serine-type endopeptidase activity p.G24W(1) kidney(1)|lung(8)|pancreas(1)|prostate(1) 11 GBM - Glioblastoma multiforme(265;0.0271) ATTCTGTGCCCCCGATGATCT 0.493000 100 30 0 0 0.008361 0 0 LAMA4 3910 broad.mit.edu 37 6 112460492 112460492 + Splice_Site SNP C A A TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr6:112460492C>A uc003pvu.2 - 24 3420 c.3111_splice c.e24-1 p.R1037_splice LAMA4_uc003pvv.2_Splice_Site_p.R1030_splice|LAMA4_uc003pvt.2_Splice_Site_p.R1030_splice NM_001105206 NP_001098676 Q16363 LAMA4_HUMAN Homo sapiens laminin, alpha 4 (LAMA4), transcript variant 1, mRNA. 1037 cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex extracellular matrix structural constituent|receptor binding NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8) 100 all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209) all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242) GCCAGCTTATCTCTGAAATGG 0.458000 65 21 1.01871e-10 1.08354e-10 0.008871 1 0 JAKMIP1 152789 broad.mit.edu 37 4 6051554 6051554 + Missense_Mutation SNP C T T TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr4:6051554C>T uc010idb.1 - 14 2440 c.1954G>A c.(1954-1956)Gat>Aat p.D652N JAKMIP1_uc010idc.1_Missense_Mutation_p.D467N|JAKMIP1_uc010idd.1_Intron NM_001099433 NP_001092903 Q96N16 JKIP1_HUMAN Homo sapiens janus kinase and microtubule interacting protein 1 (JAKMIP1), transcript variant 1, mRNA. 425 protein transport cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex GABA receptor binding|RNA binding NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 ACCCCGTTATCGCCAAGGATA 0.378000 30 11 0 0 0.010729 0 0 WDR62 284403 broad.mit.edu 37 19 36577616 36577617 + Missense_Mutation DNP GG AA AA TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr19:36577616_36577617GG>AA uc002odd.2 + 12 1761_1762 c.1670_1671GG>AA c.(1669-1671)cgg>cAA p.R557Q WDR62_uc002odc.2_Missense_Mutation_p.R557Q NM_001083961 NP_001077430 O43379 WDR62_HUMAN Homo sapiens WD repeat domain 62 (WDR62), transcript variant 1, mRNA. 557 cerebral cortex development nucleus cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3) 43 Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.06) TCAGCCAGTCGGGACCGGCTGA 0.599000 14 4 0 0 0.004672 0 0 KIAA0913 23053 broad.mit.edu 37 10 75560500 75560500 + Missense_Mutation SNP G A A TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr10:75560500G>A uc001jvj.3 + 23 5345 c.5090G>A c.(5089-5091)gGg>gAg p.G1697E KIAA0913_uc001jve.3_Missense_Mutation_p.G1710E|KIAA0913_uc009xrl.3_Missense_Mutation_p.G1705E|KIAA0913_uc001jvf.3_Missense_Mutation_p.G1523E|KIAA0913_uc001jvh.3_Non-coding_Transcript|KIAA0913_uc001jvi.3_Missense_Mutation_p.G1132E|KIAA0913_uc010qkr.2_Missense_Mutation_p.G1120E|KIAA0913_uc009xrn.2_Missense_Mutation_p.G116E NM_001242488 NP_001229417 A7E2V4 K0913_HUMAN Homo sapiens KIAA0913 (KIAA0913), transcript variant 3, mRNA. 1705 zinc ion binding breast(3)|cervix(1)|endometrium(6)|kidney(3)|lung(6) 19 Prostate(51;0.0112) TGGTTGCTGGGGCTGGCAGCA 0.612000 21 15 0 0 0.004007 0 0 TTI1 9675 broad.mit.edu 37 20 36642137 36642137 + Missense_Mutation SNP C G G TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr20:36642137C>G uc002xhl.3 - 2 291 c.82G>C c.(82-84)Gag>Cag p.E28Q TTI1_uc002xhm.3_Missense_Mutation_p.E28Q NM_014657 NP_055472 O43156 TTI1_HUMAN Homo sapiens TELO2 interacting protein 1 (TTI1), mRNA. 28 binding breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|pancreas(1)|prostate(3)|skin(3) 47 TCCACATTCTCCACTGTCTGG 0.512000 101 34 0 0 0.003755 0 0 EPHA4 2043 broad.mit.edu 37 2 222308288 222308288 + Missense_Mutation SNP G A A TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr2:222308288G>A uc002vmq.3 - 9 1855 c.1813C>T c.(1813-1815)Ccc>Tcc p.P605S EPHA4_uc002vmr.2_Missense_Mutation_p.P605S|EPHA4_uc010zlm.1_Missense_Mutation_p.P546S NM_004438 NP_004429 P54764 EPHA4_HUMAN Homo sapiens EPH receptor A4 (EPHA4), mRNA. 605 integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 Renal(207;0.0183) Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154) GCTTGGTTGGGATCTTCGTAC 0.398000 44 13 0 0 0.003163 0 0 BRDT 676 broad.mit.edu 37 1 92445135 92445135 + Missense_Mutation SNP G A A TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr1:92445135G>A uc001dol.4 + 8 1526 c.1108G>A c.(1108-1110)Gaa>Aaa p.E370K BRDT_uc010osz.2_Missense_Mutation_p.E374K|BRDT_uc001dok.4_Missense_Mutation_p.E370K|BRDT_uc009wdf.3_Missense_Mutation_p.E297K|BRDT_uc010otb.2_Missense_Mutation_p.E324K|BRDT_uc010ota.2_Missense_Mutation_p.E324K|BRDT_uc001dom.4_Missense_Mutation_p.E370K NM_001242805 NP_001229734 Q58F21 BRDT_HUMAN Homo sapiens bromodomain, testis-specific (BRDT), transcript variant 3, mRNA. 370 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein serine/threonine kinase activity|transcription coactivator activity p.F369F(1) breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2) 56 all_lung(203;0.00531)|Lung NSC(277;0.0194) all cancers(265;0.0228)|Epithelial(280;0.133) GGATGTTTTCGAAACGCATTT 0.323000 23 7 0 0 0.001984 0 0 GP2 2813 broad.mit.edu 37 16 20335568 20335568 + Silent SNP G A A TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr16:20335568G>A uc002dgv.3 - 2 188 c.105C>T c.(103-105)aaC>aaT p.N35N GP2_uc002dgw.3_Silent_p.N35N|GP2_uc002dgx.3_Intron|GP2_uc002dgy.3_Intron NM_001007240 NP_001007241 P55259 GP2_HUMAN Homo sapiens glycoprotein 2 (zymogen granule membrane) (GP2), transcript variant 1, mRNA. 35 anchored to membrane|extracellular region|plasma membrane breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 48 CTTCAATGGGGTTTCCATAAC 0.522000 40 11 0 0 0.010729 0 0 CEP135 9662 broad.mit.edu 37 4 56886933 56886933 + Missense_Mutation SNP G A A TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr4:56886933G>A uc003hbi.3 + 23 3541 c.3307G>A c.(3307-3309)Gaa>Aaa p.E1103K CEP135_uc003hbj.3_Missense_Mutation_p.E809K NM_025009 NP_079285 Q66GS9 CP135_HUMAN Homo sapiens centrosomal protein 135kDa (CEP135), mRNA. 1103 G2/M transition of mitotic cell cycle|centriole replication|centriole-centriole cohesion centriole|cytosol protein C-terminus binding p.E1103K(2) breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(26)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 50 Glioma(25;0.08)|all_neural(26;0.101) GATCTCAACTGAAAGATACGA 0.333000 52 35 0 0 0.003271 0 0 BMX 660 broad.mit.edu 37 X 15544165 15544165 + Splice_Site SNP G A A TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chrX:15544165G>A uc004cww.3 + 9 1019 c.831_splice c.e9-1 p.W277_splice BMX_uc004cwx.4_Splice_Site_p.W277_splice|BMX_uc004cwy.4_Splice_Site_p.W277_splice NM_203281 NP_975010 P51813 BMX_HUMAN Homo sapiens BMX non-receptor tyrosine kinase (BMX), transcript variant 1, mRNA. 277 cellular component disassembly involved in apoptosis|intracellular signal transduction|mesoderm development cytosol ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding|signal transducer activity breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(14)|ovary(2)|urinary_tract(3) 30 Hepatocellular(33;0.183) TCTTCTTAAGGGAATTCCCTG 0.388000 28 10 0 0 0.008291 0 0 GPLD1 2822 broad.mit.edu 37 6 24450108 24450108 + Missense_Mutation SNP G A A rs149093201 TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr6:24450108G>A uc003ned.1 - 14 1466 c.1355C>T c.(1354-1356)tCg>tTg p.S452L GPLD1_uc010jpr.1_Missense_Mutation_p.S289L|GPLD1_uc010jps.1_Missense_Mutation_p.S452L NM_001503 NP_001494 P80108 PHLD_HUMAN Homo sapiens glycosylphosphatidylinositol specific phospholipase D1 (GPLD1), transcript variant 1, mRNA. 452 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 AGCCAAGGCCGAGCCAAACCG 0.622000 52 19 0 0 0.008871 0 0 OR4C3 256144 broad.mit.edu 37 11 48346810 48346810 + Silent SNP C T T TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr11:48346810C>T uc010rhv.2 + 0 318 c.318C>T c.(316-318)ctC>ctT p.L106L NM_001004702 NP_001004702 Q8NH37 OR4C3_HUMAN Homo sapiens olfactory receptor, family 4, subfamily C, member 3 (OR4C3), mRNA. 79 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1) 32 CTCCTAAACTCATTGCTGACT 0.463000 228 15 0 0 0.012319 0 0 MMP26 56547 broad.mit.edu 37 11 5013262 5013262 + Nonsense_Mutation SNP C T T TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr11:5013262C>T uc001lzv.3 + 4 682 c.664C>T c.(664-666)Cag>Tag p.Q222* NM_021801 NP_068573 Q9NRE1 MMP26_HUMAN Homo sapiens matrix metallopeptidase 26 (MMP26), mRNA. 222 collagen catabolic process|proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding 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) CTCTGGGAATCAGAGCTCCAT 0.423000 35 7 0 0 0.003080 0 0 TNFRSF10A 8797 broad.mit.edu 37 8 23054697 23054697 + Silent SNP C T T TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr8:23054697C>T uc003xda.3 - 8 1141 c.1035G>A c.(1033-1035)ggG>ggA p.G345G NM_003844 NP_003835 O00220 TR10A_HUMAN Homo sapiens tumor necrosis factor receptor superfamily, member 10a (TNFRSF10A), mRNA. 345 activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors TRAIL binding|caspase activator activity|death receptor activity|transcription factor binding NS(2)|central_nervous_system(3)|endometrium(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(1)|skin(1) 16 Prostate(55;0.0421)|Breast(100;0.14) Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646) TCCTCTGAGACCCTTCAGCTT 0.557000 76 30 0 0 0.009535 0 0 SPTBN4 57731 broad.mit.edu 37 19 41026059 41026059 + Splice_Site SNP G A A TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr19:41026059G>A uc002ony.3 + 16 3740 c.3654_splice c.e16+1 p.Q1218_splice SPTBN4_uc002onx.3_Splice_Site_p.Q1218_splice|SPTBN4_uc002onz.3_Splice_Site_p.Q1218_splice|SPTBN4_uc010egx.3_Splice_Site NM_020971 NP_066022 Q9H254 SPTN4_HUMAN Homo sapiens spectrin, beta, non-erythrocytic 4 (SPTBN4), transcript variant sigma1, mRNA. 1218 actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport PML body|cytosol|nuclear matrix|spectrin actin binding|ankyrin binding|structural constituent of cytoskeleton breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 73 Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384) GCGTAACCAGGTGCCCACTCG 0.677000 22 10 0 0 0.006214 0 0 MYH2 4620 broad.mit.edu 37 17 10436921 10436921 + Missense_Mutation SNP G A A TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr17:10436921G>A uc010coi.3 - 19 2337 c.2209C>T c.(2209-2211)Cct>Tct p.P737S AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Missense_Mutation_p.P737S|MYH2_uc010coj.3_Intron NM_001100112 NP_060004 Q9UKX2 MYH2_HUMAN Homo sapiens myosin, heavy chain 2, skeletal muscle, adult (MYH2), transcript variant 2, mRNA. 737 Myosin head-like. muscle filament sliding muscle myosin complex|myosin filament|sarcomere ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle 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 TGCCCTTCAGGGATTGCACTT 0.383000 60 15 0 0 0.002450 0 0 GOLGA8C 729786 broad.mit.edu 37 15 20777906 20777906 + Missense_Mutation SNP A C C TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr15:20777906A>C uc010tzc.1 + 17 2162 c.1147A>C c.(1147-1149)Agc>Cgc p.S383R DQ572979_uc001ytq.2_5'Flank Homo sapiens golgin A8 family, member C (GOLGA8C), non-coding RNA. p.V383V(1) haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(2)|ovary(1)|skin(1) 8 CCTCACTGACAGCGTGGAGCC 0.637000 32 13 0 0 0.004007 0 0 EGLN3 112399 broad.mit.edu 37 14 34398386 34398386 + Silent SNP C T T TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr14:34398386C>T uc001wsa.4 - 2 836 c.510G>A c.(508-510)gaG>gaA p.E170E EGLN3_uc001wry.3_Silent_p.E76E NM_022073 NP_071356 Q9H6Z9 EGLN3_HUMAN Homo sapiens egl nine homolog 3 (C. elegans) (EGLN3), mRNA. 170 Fe2OG dioxygenase. apoptosis cytoplasm|nucleus L-ascorbic acid binding|iron ion binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|upper_aerodigestive_tract(1) 15 Breast(36;0.0303)|Hepatocellular(127;0.133) LUAD - Lung adenocarcinoma(48;0.000246)|Lung(238;0.000959)|Epithelial(34;0.155) GBM - Glioblastoma multiforme(112;0.0118) Vitamin C(DB00126) ATGATTTCCCCTCTGGAAATA 0.453000 42 11 0 0 0.010729 0 0 HYDIN 54768 broad.mit.edu 37 GL000192.1 199588 199588 + Missense_Mutation SNP C T T TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chrGL000192.1:199588C>T uc010yii.1 - 6 1053 c.832G>A c.(832-834)Gaa>Aaa p.E278K HYDIN_uc010yih.1_Non-coding_Transcript Q4G0P3 HYDIN_HUMAN Homo sapiens mRNA for KIAA1864 protein, partial cds. 1976 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) TCCTCCTCTTCCTCTAGGTAG 0.453000 59 6 0 0 0.004482 0 0 ANKRD20A9P 284232 broad.mit.edu 37 13 19412884 19412884 + RNA SNP T C C TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr13:19412884T>C uc010tcj.1 - 0 c.33226A>G Homo sapiens ankyrin repeat domain 20 family, member A9, pseudogene (ANKRD20A9P), non-coding RNA. GCAATATCTGTCTTCAAAATG 0.269000 68 4 0 0 0.001168 0 0 PDZD4 57595 broad.mit.edu 37 X 153073991 153073991 + Silent SNP G A A TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chrX:153073991G>A uc004fja.1 - 1 370 c.120C>T c.(118-120)tcC>tcT p.S40S PDZD4_uc004fiy.1_5'UTR|PDZD4_uc004fiz.1_Silent_p.S40S|PDZD4_uc004fix.2_5'UTR|PDZD4_uc011mze.1_Intron NM_032512 NP_115901 Q76G19 PDZD4_HUMAN Homo sapiens PDZ domain containing 4 (PDZD4), mRNA. 40 cell cortex p.R39C(1) breast(3)|cervix(1)|endometrium(5)|lung(13)|skin(1) 23 all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05) GCTCCTTGGAGGAGCGCAGGG 0.637000 4 6 0 0 0.001168 0 0 KCNAB1 7881 broad.mit.edu 37 3 155838463 155838463 + Silent SNP G A A TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr3:155838463G>A uc003far.2 + 0 127 c.63G>A c.(61-63)agG>agA p.R21R KCNAB1_uc011bon.1_Silent_p.R21R NM_172160 NP_751892 Q14722 KCAB1_HUMAN Homo sapiens potassium voltage-gated channel, shaker-related subfamily, beta member 1 (KCNAB1), transcript variant 1, mRNA. 21 cytoplasm|integral to membrane oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity p.R20*(1) breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 28 LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465) CCAAGTTAAGGAGACAGTCTG 0.527000 118 43 0 0 0.008740 0 0 GFRAL 389400 broad.mit.edu 37 6 55216156 55216156 + Missense_Mutation SNP G A A TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr6:55216156G>A uc003pcm.1 + 4 562 c.476G>A c.(475-477)gGa>gAa p.G159E NM_207410 NP_997293 Q6UXV0 GFRAL_HUMAN Homo sapiens GDNF family receptor alpha like (GFRAL), mRNA. 159 integral to membrane receptor activity NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 48 Lung NSC(77;0.0875)|Renal(3;0.122) LUSC - Lung squamous cell carcinoma(124;0.23) TCAGCAAATGGAAATCCGTGT 0.453000 141 60 0 0 0.014410 0 0 WEE2 494551 broad.mit.edu 37 7 141414188 141414188 + Silent SNP G A A TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr7:141414188G>A uc003vwn.2 + 1 928 c.522G>A c.(520-522)agG>agA p.R174R FLJ40852_uc011krh.1_Intron|FLJ40852_uc010lnm.2_Intron|FLJ40852_uc010lnn.2_Intron|FLJ40852_uc003vwm.3_Intron|FLJ40852_uc010lno.2_Intron NM_001105558 NP_001099028 P0C1S8 WEE2_HUMAN Homo sapiens WEE1 homolog 2 (S. pombe) (WEE2), mRNA. 174 egg activation|female meiosis|female pronucleus assembly|meiotic metaphase II|meiotic prophase I|mitosis|negative regulation of oocyte development|regulation of meiosis I centrosome|nucleus ATP binding|magnesium ion binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(2)|stomach(1) 31 Melanoma(164;0.0171) GTGGCAAGAGGAAAATAAGAG 0.383000 50 13 0 0 0.001855 0 0 KIAA0528 9847 broad.mit.edu 37 12 22609921 22609921 + Missense_Mutation SNP G A A TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr12:22609921G>A uc010sit.2 - 25 3095 c.2867C>T c.(2866-2868)aCt>aTt p.T956I KIAA0528_uc010sir.2_Missense_Mutation_p.T759I|KIAA0528_uc010sis.2_Missense_Mutation_p.T954I|KIAA0528_uc001rfq.3_Missense_Mutation_p.T903I|KIAA0528_uc010siu.2_Missense_Mutation_p.T954I|KIAA0528_uc001rfr.3_Missense_Mutation_p.T945I NM_014802 NP_055617 Q86YS7 K0528_HUMAN Homo sapiens KIAA0528 (KIAA0528), mRNA. 903 protein binding breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 AAGAGAAGTAGTCTCTCGAAT 0.284000 19 7 0 0 0.003080 0 0 VWA5A 4013 broad.mit.edu 37 11 123993723 123993723 + Missense_Mutation SNP G A A TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr11:123993723G>A uc001pzu.3 + 7 1026 c.817G>A c.(817-819)Gat>Aat p.D273N VWA5A_uc001pzr.3_Missense_Mutation_p.D273N|VWA5A_uc001pzs.3_Missense_Mutation_p.D273N|VWA5A_uc010sae.2_Missense_Mutation_p.D289N|VWA5A_uc001pzt.3_Missense_Mutation_p.D273N NM_001130142 NP_055437 O00534 VMA5A_HUMAN Homo sapiens von Willebrand factor A domain containing 5A (VWA5A), transcript variant 3, mRNA. 273 autonomic_ganglia(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 47 TATCCCAGAAGATCAACCATC 0.443000 33 10 0 0 0.010729 0 0 FXYD3 5349 broad.mit.edu 37 19 35611987 35611987 + Missense_Mutation SNP C T T TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr19:35611987C>T uc010xsm.2 + 5 494 c.217C>T c.(217-219)Cct>Tct p.P73S FXYD3_uc010xsj.1_Missense_Mutation_p.P16S|FXYD3_uc010xsk.1_Missense_Mutation_p.P16S|FXYD3_uc010xsl.1_Missense_Mutation_p.P16S|FXYD3_uc010xsn.2_Missense_Mutation_p.P16S|FXYD3_uc002nxw.3_Missense_Mutation_p.P16S|FXYD3_uc002nxv.3_Missense_Mutation_p.P16S|FXYD3_uc010xso.2_Missense_Mutation_p.P16S NM_001136007 NP_005962 Q14802 FXYD3_HUMAN Homo sapiens FXYD domain containing ion transport regulator 3 (FXYD3), transcript variant 3, mRNA. 16 chloride channel complex|integral to plasma membrane chloride channel activity endometrium(1)|lung(2)|prostate(1) 4 all_lung(56;5.38e-08)|Lung NSC(56;8.61e-08)|Esophageal squamous(110;0.162) Epithelial(14;5.54e-20)|OV - Ovarian serous cystadenocarcinoma(14;1.33e-18)|all cancers(14;4.27e-17)|LUSC - Lung squamous cell carcinoma(66;0.0849) ACTAGGCTTTCCTGTCCTGGA 0.612000 39 16 0 0 0.004007 0 0 EFHD2 79180 broad.mit.edu 37 1 15752487 15752487 + Silent SNP C T T TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr1:15752487C>T uc001awh.2 + 1 506 c.429C>T c.(427-429)gaC>gaT p.D143D NM_024329 NP_077305 Q96C19 EFHD2_HUMAN Homo sapiens EF-hand domain family, member D2 (EFHD2), mRNA. 143 EF-hand 2. membrane raft large_intestine(1)|skin(1) 2 Renal(390;0.00145)|Breast(348;0.00173)|Colorectal(325;0.00215)|all_lung(284;0.00366)|Lung NSC(340;0.00395)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)|Hepatocellular(190;0.152) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.59e-07)|COAD - Colon adenocarcinoma(227;3.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000119)|KIRC - Kidney renal clear cell carcinoma(229;0.00251)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0649) TGGATGAGGACTTTGACAGCA 0.592000 58 12 0 0 0.010729 0 0 DNAH2 146754 broad.mit.edu 37 17 7720944 7720944 + Silent SNP C T T TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr17:7720944C>T uc002giu.1 + 64 10100 c.10086C>T c.(10084-10086)acC>acT p.T3362T DNAH2_uc010cnm.1_Silent_p.T300T NM_020877 NP_065928 Q9P225 DYH2_HUMAN Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA. 3362 AAA 5 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1) 189 all_cancers(10;4.66e-07)|Prostate(122;0.081) GCAATCCTACCAAAGTCCGGG 0.547000 70 39 0 0 0.005524 0 0 ANKRD20A9P 284232 broad.mit.edu 37 13 19412918 19412918 + RNA SNP C T T TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr13:19412918C>T uc010tcj.1 - 0 c.33192G>A Homo sapiens ankyrin repeat domain 20 family, member A9, pseudogene (ANKRD20A9P), non-coding RNA. TCAGATCTTTCATTTCTTCAT 0.274000 63 4 0 0 0.001168 0 0 GALNT5 11227 broad.mit.edu 37 2 158115963 158115963 + Nonsense_Mutation SNP A T T TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr2:158115963A>T uc002tzg.3 + 0 1624 c.1369A>T c.(1369-1371)Aga>Tga p.R457* GALNT5_uc010zci.2_Non-coding_Transcript NM_014568 NP_055383 Q7Z7M9 GALT5_HUMAN Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 5 (GalNAc-T5) (GALNT5), mRNA. 457 glycosaminoglycan biosynthetic process Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding breast(4)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2) 56 GGAGGCAGAAAGAAGATGGAA 0.478000 56 13 0 0 0.013537 0 0 OR5P2 120065 broad.mit.edu 37 11 7818469 7818469 + Silent SNP C T T TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr11:7818469C>T uc001mfp.1 - 0 21 c.21G>A c.(19-21)ggG>ggA p.G7G NM_153444 NP_703145 Q8WZ92 OR5P2_HUMAN Homo sapiens olfactory receptor, family 5, subfamily P, member 2 (OR5P2), mRNA. 7 G -> R (in dbSNP:rs1482804). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4) 22 Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189) CGGTGTGATTCCCGTCCTTCA 0.428000 41 8 0 0 0.003080 0 0 CNTNAP5 129684 broad.mit.edu 37 2 125405422 125405422 + Missense_Mutation SNP C T T TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr2:125405422C>T uc010flu.3 + 12 2328 c.1964C>T c.(1963-1965)gCc>gTc p.A655V CNTNAP5_uc002tno.3_Missense_Mutation_p.A654V NM_130773 NP_570129 Q8WYK1 CNTP5_HUMAN Homo sapiens contactin associated protein-like 5 (CNTNAP5), mRNA. 654 Fibrinogen C-terminal. cell adhesion|signal transduction integral to membrane receptor binding NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3) 176 BRCA - Breast invasive adenocarcinoma(221;0.248) TATGCCATGGCCTTGGACTAC 0.612000 15 9 0 0 0.006214 0 0 CPA3 1359 broad.mit.edu 37 3 148586813 148586813 + Missense_Mutation SNP A G G TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr3:148586813A>G uc003ewm.3 + 2 308 c.256A>G c.(256-258)Aaa>Gaa p.K86E NM_001870 NP_001861 P15088 CBPA3_HUMAN Homo sapiens carboxypeptidase A3 (mast cell) (CPA3), mRNA. 86 proteolysis stored secretory granule|transport vesicle metallocarboxypeptidase activity|zinc ion binding NS(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(3) 35 LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115) GGATCAAAATAAAATGCACTA 0.413000 26 6 0 0 0.001168 0 0 CACNA1H 8912 broad.mit.edu 37 16 1261270 1261270 + Silent SNP C T T TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr16:1261270C>T uc002cks.3 + 21 4574 c.4326C>T c.(4324-4326)atC>atT p.I1442I CACNA1H_uc002ckt.3_Silent_p.I1442I|CACNA1H_uc002cku.3_Silent_p.I148I|CACNA1H_uc010brj.3_Silent_p.I148I|CACNA1H_uc002ckv.3_Silent_p.I148I NM_021098 NP_066921 O95180 CAC1H_HUMAN Homo sapiens calcium channel, voltage-dependent, T type, alpha 1H subunit (CACNA1H), transcript variant 1, mRNA. 1442 aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction voltage-gated calcium channel complex low voltage-gated calcium channel activity breast(4)|endometrium(5)|kidney(2)|lung(23) 34 Hepatocellular(780;0.00369) Flunarizine(DB04841)|Mibefradil(DB01388) CCTTCTTCATCATTTTTGGCA 0.627000 130 34 0 0 0.004289 0 0 BTBD7 55727 broad.mit.edu 37 14 93712562 93712562 + Missense_Mutation SNP C T T TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr14:93712562C>T uc001ybo.3 - 9 2518 c.2192G>A c.(2191-2193)gGg>gAg p.G731E BTBD7_uc010aur.3_Missense_Mutation_p.G256E|BTBD7_uc010two.2_Missense_Mutation_p.G551E|BTBD7_uc001ybp.3_Missense_Mutation_p.G380E NM_001002860 NP_001002860 Q9P203 BTBD7_HUMAN Homo sapiens BTB (POZ) domain containing 7 (BTBD7), transcript variant 1, mRNA. 731 breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1) 35 all_cancers(154;0.08) Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223) GCGACATCTCCCAGGCTGTCT 0.443000 141 42 0 0 0.007835 0 0 SLC44A5 204962 broad.mit.edu 37 1 75707690 75707690 + Silent SNP T C C TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr1:75707690T>C uc010oqz.1 - 7 711 c.645A>G c.(643-645)aaA>aaG p.K215K SLC44A5_uc001dgt.2_Silent_p.K176K|SLC44A5_uc001dgs.2_Silent_p.K134K|SLC44A5_uc001dgr.2_Silent_p.K134K|SLC44A5_uc001dgu.3_Silent_p.K176K|SLC44A5_uc010ora.2_Silent_p.K170K|SLC44A5_uc010orb.2_Silent_p.K46K NM_001130058 NP_001123530 Q8NCS7 CTL5_HUMAN Homo sapiens solute carrier family 44, member 5 (SLC44A5), transcript variant 2, mRNA. 176 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 ACTTACAAGGTTTGCTGGGAA 0.378000 44 18 0 0 0.010504 0 0 SELP 6403 broad.mit.edu 37 1 169580798 169580798 + Missense_Mutation SNP A C C TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr1:169580798A>C uc001ggi.4 - 6 1144 c.1079T>G c.(1078-1080)gTg>gGg p.V360G SELP_uc001ggh.3_Missense_Mutation_p.V195G|SELP_uc009wvr.3_Missense_Mutation_p.V360G NM_003005 NP_002996 P16109 LYAM3_HUMAN Homo sapiens selectin P (granule membrane protein 140kDa, antigen CD62) (SELP), mRNA. 360 Sushi 3. platelet activation|platelet degranulation|positive regulation of platelet activation external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding p.R359T(1) breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 all_hematologic(923;0.208) Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775) CAAGCCCCTCACTCTGTAGCC 0.537000 102 33 0 0 0.012213 0 0 SLC9C1 285335 broad.mit.edu 37 3 111918179 111918179 + Missense_Mutation SNP C T T TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr3:111918179C>T uc003dyu.3 - 19 2734 c.2512G>A c.(2512-2514)Gga>Aga p.G838R SLC9C1_uc011bhu.2_Missense_Mutation_p.G101R|SLC9C1_uc010hqc.3_Missense_Mutation_p.G790R NM_183061 NP_898884 Q4G0N8 S9A10_HUMAN Homo sapiens solute carrier family 9, member 10 (SLC9A10), mRNA. 838 cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis cilium|flagellar membrane|integral to membrane solute:hydrogen antiporter activity TTATTAATTCCAGCACCTTCA 0.308000 42 7 0 0 0.001984 0 0 MYO3A 53904 broad.mit.edu 37 10 26243817 26243817 + Silent SNP G A A TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr10:26243817G>A uc001isn.2 + 3 543 c.183G>A c.(181-183)gaG>gaA p.E61E MYO3A_uc009xko.1_Silent_p.E61E|MYO3A_uc009xkp.1_Non-coding_Transcript|MYO3A_uc009xkq.1_Silent_p.E61E|MYO3A_uc001ism.2_Silent_p.E61E NM_017433 NP_059129 Q8NEV4 MYO3A_HUMAN Homo sapiens myosin IIIA (MYO3A), mRNA. 61 Protein kinase. protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception cytoplasm|filamentous actin|filopodium|myosin complex ADP binding|ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 146 TTGACGAAGAGATTGAAGCAG 0.323000 49 28 0 0 0.006320 0 0 LY9 4063 broad.mit.edu 37 1 160788007 160788007 + Splice_Site SNP G A A TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr1:160788007G>A uc001fwu.3 + 6 1393 c.1343_splice c.e6-1 p.G448_splice LY9_uc001fwv.3_Splice_Site_p.G448_splice|LY9_uc001fww.3_Splice_Site_p.R358_splice|LY9_uc001fwy.1_Splice_Site_p.R260_splice|LY9_uc001fwz.3_Splice_Site_p.G100_splice NM_002348 NP_002339 Q9HBG7 LY9_HUMAN Homo sapiens lymphocyte antigen 9 (LY9), transcript variant 1, mRNA. 448 Ig-like C2-type 2. cell adhesion|immunoglobulin mediated immune response integral to membrane autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 36 all_cancers(52;2.72e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00737) CCTCCTCAAAGGACCTGAGAG 0.448000 45 6 0 0 0.001168 0 0 GPR126 57211 broad.mit.edu 37 6 142737023 142737023 + Nonsense_Mutation SNP G A A TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr6:142737023G>A uc010khe.3 + 19 3171 c.2760G>A c.(2758-2760)tgG>tgA p.W920* GPR126_uc010khc.3_Nonsense_Mutation_p.W920*|GPR126_uc010khd.3_Nonsense_Mutation_p.W892*|GPR126_uc010khf.3_Nonsense_Mutation_p.W892* NM_198569 NP_940971 Q86SQ4 GP126_HUMAN Homo sapiens G protein-coupled receptor 126 (GPR126), transcript variant b1, mRNA. 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 121 35 0 0 0.013726 0 0 PPFIA2 8499 broad.mit.edu 37 12 81688664 81688664 + Nonsense_Mutation SNP G A A TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr12:81688664G>A uc001szo.2 - 23 3036 c.2875C>T c.(2875-2877)Cag>Tag p.Q959* PPFIA2_uc010sug.2_Non-coding_Transcript|PPFIA2_uc021rbg.1_Nonsense_Mutation_p.Q885*|PPFIA2_uc021rbh.1_Nonsense_Mutation_p.Q860*|PPFIA2_uc021rbi.1_Nonsense_Mutation_p.Q959*|PPFIA2_uc021rbj.1_Nonsense_Mutation_p.Q959*|PPFIA2_uc021rbk.1_Nonsense_Mutation_p.Q944*|PPFIA2_uc021rbl.1_Nonsense_Mutation_p.Q959*|PPFIA2_uc010sue.2_Intron|PPFIA2_uc021rbe.1_Nonsense_Mutation_p.Q526*|PPFIA2_uc021rbf.1_Nonsense_Mutation_p.Q176* NM_003625 NP_003616 B7Z663 B7Z663_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2 (PPFIA2), transcript variant 1, mRNA. 885 NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5) 85 ACCATCTCCTGGATTGCTAAT 0.473000 19 5 0 0 0.000602 0 0 BSN 8927 broad.mit.edu 37 3 49693943 49693943 + Silent SNP C T T TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr3:49693943C>T uc003cxe.4 + 4 7068 c.6954C>T c.(6952-6954)gcC>gcT p.A2318A NM_003458 NP_003449 Q9UPA5 BSN_HUMAN Homo sapiens bassoon (presynaptic cytomatrix protein) (BSN), mRNA. 2318 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) CCCCTGCTGCCATCAAGGAGG 0.687000 28 10 0 0 0.008291 0 0 DSC2 1824 broad.mit.edu 37 18 28648154 28648154 + Missense_Mutation SNP C T T TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr18:28648154C>T uc002kwl.4 - 15 2987 c.2533G>A c.(2533-2535)Gaa>Aaa p.E845K DSC2_uc002kwk.4_3'UTR NM_024422 NP_077740 Q02487 DSC2_HUMAN Homo sapiens desmocollin 2 (DSC2), transcript variant Dsc2a, mRNA. 845 homophilic cell adhesion desmosome|integral to membrane calcium ion binding endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1) 21 OV - Ovarian serous cystadenocarcinoma(10;0.0241) TTGTGATTTTCATCTTGATTA 0.363000 44 7 0 0 0.004482 0 0 GCOM1 145781 broad.mit.edu 37 15 57913864 57913864 + Missense_Mutation SNP G A A TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr15:57913864G>A uc002aei.3 + 3 508 c.377G>A c.(376-378)aGa>aAa p.R126K GCOM1_uc002aej.3_Missense_Mutation_p.R126K|GCOM1_uc002aek.3_Intron|GCOM1_uc002ael.3_Intron|GCOM1_uc002aem.3_Missense_Mutation_p.R126K|GCOM1_uc002aep.3_Non-coding_Transcript|GCOM1_uc010bfx.3_Non-coding_Transcript|GCOM1_uc002aeq.3_Non-coding_Transcript|GCOM1_uc002aen.3_Non-coding_Transcript|GCOM1_uc010bfy.3_Non-coding_Transcript|GCOM1_uc002aeo.3_Missense_Mutation_p.R126K NM_001018100 NP_001018110 P0CAP1 GCOM1_HUMAN Homo sapiens myocardial zonula adherens protein (MYZAP), transcript variant 1, mRNA. 126 intracellular signal transduction I band|extrinsic to internal side of plasma membrane endometrium(1)|kidney(2)|large_intestine(9)|liver(1)|lung(1)|ovary(1)|skin(2)|stomach(1) 18 GATGAGATGAGACAGAAGATT 0.468000 95 33 0 0 0.003755 0 0 SYNJ2 8871 broad.mit.edu 37 6 158497657 158497657 + Splice_Site SNP G A A rs143612133 TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr6:158497657G>A uc003qqx.2 + 17 2399 c.2293_splice c.e17-1 p.I765_splice SYNJ2_uc003qqw.2_Splice_Site_p.I765_splice|SYNJ2_uc003qqy.2_Splice_Site_p.I528_splice|SYNJ2_uc003qqz.2_Splice_Site_p.I382_splice|SYNJ2_uc003qra.2_Splice_Site_p.I108_splice NM_003898 NP_001171559 O15056 SYNJ2_HUMAN Homo sapiens synaptojanin 2 (SYNJ2), transcript variant 1, mRNA. 765 RNA binding|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 46 OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05) TCTCCCAATAGATTTTTAAGG 0.428000 53 18 0 0 0.007413 0 0 PTPRF 5792 broad.mit.edu 37 1 44057176 44057176 + Missense_Mutation SNP G A A TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr1:44057176G>A uc001cjr.3 + 8 1823 c.1483G>A c.(1483-1485)Ggc>Agc p.G495S PTPRF_uc001cjs.3_Missense_Mutation_p.G495S|PTPRF_uc001cju.3_Missense_Mutation_p.G66S|PTPRF_uc009vwt.3_Missense_Mutation_p.G66S|PTPRF_uc001cjv.3_Missense_Mutation_p.G66S NM_002840 NP_002831 P10586 PTPRF_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, F (PTPRF), transcript variant 1, mRNA. 495 Fibronectin type-III 2. transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane transmembrane receptor protein tyrosine phosphatase activity NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3) 72 all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0333) CACCGCCGTGGGCGATGGCCC 0.682000 18 3 0 0 0.004672 0 0 ADAD1 132612 broad.mit.edu 37 4 123301320 123301320 + Silent SNP G A A TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr4:123301320G>A uc003ieo.3 + 2 328 c.96G>A c.(94-96)acG>acA p.T32T ADAD1_uc003iep.3_Silent_p.T32T|ADAD1_uc003ieq.3_Silent_p.T14T NM_139243 NP_001152767 Q96M93 ADAD1_HUMAN Homo sapiens adenosine deaminase domain containing 1 (testis-specific) (ADAD1), transcript variant 1, mRNA. 32 RNA processing|multicellular organismal development nucleus adenosine deaminase activity|double-stranded RNA binding p.K31K(1) breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 35 CGACAAAGACGATAACTACAC 0.468000 26 33 0 0 0.010818 0 0 GPR31 2853 broad.mit.edu 37 6 167570978 167570978 + Silent SNP G A A TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr6:167570978G>A uc011egq.2 - 0 342 c.342C>T c.(340-342)ctC>ctT p.L114L NM_005299 NP_005290 O00270 GPR31_HUMAN Homo sapiens G protein-coupled receptor 31 (GPR31), mRNA. 114 integral to plasma membrane G-protein coupled receptor activity NS(1)|endometrium(4)|large_intestine(4)|lung(7)|prostate(1) 17 Breast(66;1.53e-05)|Ovarian(120;0.0606) OV - Ovarian serous cystadenocarcinoma(33;4.81e-20)|BRCA - Breast invasive adenocarcinoma(81;4.45e-06)|GBM - Glioblastoma multiforme(31;0.00492) GGACCACACGGAGGTACCGGT 0.687000 30 8 0 0 0.003080 0 0 SSTR1 6751 broad.mit.edu 37 14 38678754 38678754 + Missense_Mutation SNP G A A TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr14:38678754G>A uc021rsi.1 + 0 160 c.160G>A c.(160-162)Ggc>Agc p.G54S SSTR1_uc001wul.1_Missense_Mutation_p.G54S NM_001049 NP_001040 P30872 SSR1_HUMAN Homo sapiens somatostatin receptor 1 (SSTR1), mRNA. 54 G-protein signaling, coupled to cyclic nucleotide second messenger|digestion|negative regulation of cell proliferation|response to nutrient integral to plasma membrane somatostatin receptor activity breast(1)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 29 Hepatocellular(127;0.213)|Esophageal squamous(585;0.22) Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187) GBM - Glioblastoma multiforme(112;0.00444) Octreotide(DB00104) CTTGAGCGAGGGCCAGGGCAG 0.667000 29 12 0 0 0.010729 0 0 KCNQ3 3786 broad.mit.edu 37 8 133192441 133192441 + Nonsense_Mutation SNP C T T TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr8:133192441C>T uc003ytj.3 - 3 965 c.740G>A c.(739-741)tGg>tAg p.W247* KCNQ3_uc003yti.3_Nonsense_Mutation_p.W127*|KCNQ3_uc010mdt.3_Nonsense_Mutation_p.W247* NM_004519 NP_004510 O43525 KCNQ3_HUMAN Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 3 (KCNQ3), transcript variant 1, mRNA. 247 axon guidance|synaptic transmission voltage-gated potassium channel complex voltage-gated potassium channel activity p.W247*(2) NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 70 Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000311) CAGAAGCTTCCAGGTGCCACC 0.597000 81 17 0 0 0.006122 0 0 NOSIP 51070 broad.mit.edu 37 19 50059050 50059050 + Silent SNP C T T TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr19:50059050C>T uc002pok.3 - 9 1016 c.864G>A c.(862-864)gtG>gtA p.V288V NOSIP_uc002pol.3_Silent_p.V288V NM_015953 NP_057037 Q9Y314 NOSIP_HUMAN Homo sapiens nitric oxide synthase interacting protein (NOSIP), mRNA. 288 negative regulation of nitric-oxide synthase activity|nitric oxide metabolic process cytosol|nucleus protein binding cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)|skin(2)|urinary_tract(1) 11 all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.00321)|GBM - Glioblastoma multiforme(134;0.0133) CTTGCAGCTTCACTCCGGAGC 0.647000 59 13 0 0 0.002450 0 0 ARID5A 10865 broad.mit.edu 37 2 97213176 97213176 + Silent SNP G A A TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr2:97213176G>A uc002swe.3 + 1 142 c.42G>A c.(40-42)gaG>gaA p.E14E ARID5A_uc010yuq.2_5'UTR|ARID5A_uc002swf.3_5'UTR|ARID5A_uc002swg.3_5'UTR NM_212481 NP_997646 Q03989 ARI5A_HUMAN Homo sapiens AT rich interactive domain 5A (MRF1-like) (ARID5A), mRNA. 14 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus DNA binding endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|skin(1)|urinary_tract(2) 14 AGTCCACGGAGGGTGACGCCC 0.587000 33 13 0 0 0.003163 0 0 SLC16A3 9123 broad.mit.edu 37 17 80196837 80196837 + Silent SNP G A A TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr17:80196837G>A uc002kea.3 + 4 1533 c.1383G>A c.(1381-1383)ccG>ccA p.P461P SLC16A3_uc021ufm.1_Silent_p.P461P|SLC16A3_uc002keb.3_Silent_p.P461P|SLC16A3_uc002kec.3_Silent_p.P461P|SLC16A3_uc002ked.3_Silent_p.P461P|SLC16A3_uc021ufn.1_Silent_p.P461P|SLC16A3_uc021ufo.1_Silent_p.P461P NM_001042422 NP_004198 O15427 MOT4_HUMAN Homo sapiens solute carrier family 16, member 3 (monocarboxylic acid transporter 4) (SLC16A3), transcript variant 2, mRNA. 461 blood coagulation|leukocyte migration|organic anion transport|pyruvate metabolic process actin cytoskeleton|integral to plasma membrane|membrane fraction|nuclear membrane secondary active monocarboxylate transmembrane transporter activity|symporter activity endometrium(2)|kidney(1)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 9 Breast(20;0.00285)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.227) OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0149) Pyruvic acid(DB00119) TTCACACCCCGGAAACAAGTG 0.587000 76 27 0 0 0.004656 0 0 OR6S1 341799 broad.mit.edu 37 14 21109703 21109703 + Missense_Mutation SNP C T T TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr14:21109703C>T uc001vxv.1 - 0 148 c.148G>A c.(148-150)Gtg>Atg p.V50M NM_001001968 NP_001001968 Q8NH40 OR6S1_HUMAN Homo sapiens olfactory receptor, family 6, subfamily S, member 1 (OR6S1), mRNA. 50 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 23 all_cancers(95;0.00304) Epithelial(56;1.23e-06)|all cancers(55;1.01e-05) GBM - Glioblastoma multiforme(265;0.0135) GCCCTTACCACCCCCACAATC 0.463000 90 19 0 0 0.006122 0 0 DUOX2 50506 broad.mit.edu 37 15 45401086 45401086 + Silent SNP G A A TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr15:45401086G>A uc001zun.3 - 11 1502 c.1299C>T c.(1297-1299)ggC>ggT p.G433G DUOX2_uc010bea.3_Silent_p.G433G NM_014080 NP_054799 Q9NRD8 DUOX2_HUMAN Homo sapiens dual oxidase 2 (DUOX2), mRNA. 433 Peroxidase-like; mediates peroxidase activity (By similarity). cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus apical plasma membrane|integral to membrane NAD(P)H oxidase activity|calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|peroxidase activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1) 63 all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027) all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068) CCATATCTCGGCCACGTTGGA 0.567000 65 30 0 0 0.009535 0 0 WFIKKN2 124857 broad.mit.edu 37 17 48917490 48917490 + Missense_Mutation SNP G A A TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr17:48917490G>A uc002isv.4 + 1 1535 c.841G>A c.(841-843)Gat>Aat p.D281N WFIKKN2_uc010dbu.3_Missense_Mutation_p.D188N NM_175575 NP_783165 Q8TEU8 WFKN2_HUMAN Homo sapiens WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 2 (WFIKKN2), mRNA. 281 Ig-like C2-type. extracellular region metalloendopeptidase inhibitor activity|protein binding|serine-type endopeptidase inhibitor activity cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(13)|ovary(4)|skin(1) 29 BRCA - Breast invasive adenocarcinoma(22;1.09e-08) CCAGCTGCAGGATGCTGGGAT 0.622000 40 21 0 0 0.012319 0 0 ALKBH1 8846 broad.mit.edu 37 14 78140470 78140470 + Missense_Mutation SNP C G G TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr14:78140470C>G uc001xuc.1 - 5 864 c.855G>C c.(853-855)ttG>ttC p.L285F NM_006020 NP_006011 Q13686 ALKB1_HUMAN Homo sapiens alkB, alkylation repair homolog 1 (E. coli) (ALKBH1), mRNA. 285 Fe2OG dioxygenase. DNA dealkylation involved in DNA repair|DNA demethylation|RNA repair|oxidative demethylation mitochondrion DNA-(apurinic or apyrimidinic site) lyase activity|ferrous iron binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen endometrium(2)|lung(4)|ovary(1)|prostate(1)|skin(1) 9 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0291) CTGCGTGGTTCAAGAGGCGGC 0.562000 39 21 0 0 0.010504 0 0 SNCAIP 9627 broad.mit.edu 37 5 121761093 121761093 + Missense_Mutation SNP G A A TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr5:121761093G>A uc003ksw.1 + 4 1255 c.1049G>A c.(1048-1050)gGa>gAa p.G350E SNCAIP_uc011cwl.1_Intron|SNCAIP_uc010jct.3_Missense_Mutation_p.G350E|SNCAIP_uc003ksy.1_Intron|SNCAIP_uc003ksx.1_Missense_Mutation_p.G397E|SNCAIP_uc003ksz.1_Intron|SNCAIP_uc010jcu.2_Intron|SNCAIP_uc011cwm.1_Intron|SNCAIP_uc003kta.1_Intron|SNCAIP_uc010jcv.1_Non-coding_Transcript|SNCAIP_uc010jcw.1_Missense_Mutation_p.G44E|SNCAIP_uc010jcx.1_Intron NM_005460 NP_005451 Q9Y6H5 SNCAP_HUMAN Homo sapiens synuclein, alpha interacting protein (SNCAIP), transcript variant 1, mRNA. 350 cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion cytoplasm|neuronal cell body|nucleolus|presynaptic membrane ubiquitin protein ligase binding NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1) 39 all_cancers(142;0.00787)|Prostate(80;0.0327) KIRC - Kidney renal clear cell carcinoma(527;0.206) OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232) GACGAAAATGGAAACAATCTA 0.433000 72 22 0 0 0.002780 0 0 CAPN9 10753 broad.mit.edu 37 1 230883404 230883404 + Silent SNP C T T TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr1:230883404C>T uc001htz.1 + 0 275 c.162C>T c.(160-162)tcC>tcT p.S54S CAPN9_uc009xfg.1_Silent_p.S54S|CAPN9_uc001hua.1_Silent_p.S54S NM_006615 NP_006606 O14815 CAN9_HUMAN Homo sapiens calpain 9 (CAPN9), transcript variant 1, mRNA. 54 Calpain catalytic. digestion|proteolysis intracellular calcium ion binding|calcium-dependent cysteine-type endopeptidase activity autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 25 Breast(184;0.0871)|Ovarian(103;0.183) Prostate(94;0.167) GCAATTCCTCCCTGTTCTACA 0.587000 68 44 0 0 0.014410 0 0 ASTN1 460 broad.mit.edu 37 1 177001793 177001793 + Missense_Mutation SNP C A A rs148328689 TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr1:177001793C>A uc001glc.3 - 2 876 c.664G>T c.(664-666)Gtg>Ttg p.V222L ASTN1_uc001glb.1_Missense_Mutation_p.V222L|ASTN1_uc001gld.1_Missense_Mutation_p.V222L|ASTN1_uc009wwx.1_Missense_Mutation_p.V222L|ASTN1_uc001gle.4_Non-coding_Transcript NM_004319 NP_004310 O14525 ASTN1_HUMAN Homo sapiens astrotactin 1 (ASTN1), transcript variant 1, mRNA. 222 cell migration|neuron cell-cell adhesion integral to membrane NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3) 153 TGGCCCTGCACGCGGGCATTG 0.602000 67 50 3.86236e-30 4.15855e-30 0.014410 1 0 SLC26A3 1811 broad.mit.edu 37 7 107431496 107431496 + Silent SNP G A A TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr7:107431496G>A uc003ver.2 - 4 778 c.567C>T c.(565-567)atC>atT p.I189I SLC26A3_uc003ves.2_Silent_p.I154I NM_000111 NP_000102 P40879 S26A3_HUMAN Homo sapiens solute carrier family 26, member 3 (SLC26A3), mRNA. 189 excretion integral to membrane|membrane fraction inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 46 TGCTCACCTGGATGATTCCAG 0.507000 18 7 0 0 0.001984 0 0 SPTBN5 51332 broad.mit.edu 37 15 42171478 42171478 + Silent SNP G A A TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr15:42171478G>A uc001zos.3 - 15 3390 c.3057C>T c.(3055-3057)ttC>ttT p.F1019F NM_016642 NP_057726 Q9NRC6 SPTN5_HUMAN Homo sapiens spectrin, beta, non-erythrocytic 5 (SPTBN5), mRNA. 1054 actin cytoskeleton organization|actin filament capping|axon guidance cytosol|membrane|spectrin NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 62 all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173) all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908) CACTTTGGAGGAAGTGGACCC 0.637000 55 22 0 0 0.010504 0 0 SLCO1A2 6579 broad.mit.edu 37 12 21457408 21457408 + Missense_Mutation SNP G A A TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr12:21457408G>A uc001rer.3 - 4 793 c.542C>T c.(541-543)tCc>tTc p.S181F SLCO1A2_uc010siq.2_Missense_Mutation_p.S49F|SLCO1A2_uc001res.3_Missense_Mutation_p.S181F|SLCO1A2_uc010sio.2_Missense_Mutation_p.S49F|SLCO1A2_uc010sip.2_Missense_Mutation_p.S49F|SLCO1A2_uc001ret.3_Missense_Mutation_p.S179F|SLCO1A2_uc001reu.2_Missense_Mutation_p.S161F NM_021094 NP_602307 P46721 SO1A2_HUMAN Homo sapiens solute carrier organic anion transporter family, member 1A2 (SLCO1A2), transcript variant 2, mRNA. 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(2) 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 26 21 0 0 0.008871 0 0 OR5T3 390154 broad.mit.edu 37 11 56020497 56020497 + Silent SNP C T T TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr11:56020497C>T uc010rjd.2 + 0 822 c.822C>T c.(820-822)caC>caT p.H274H NM_001004747 NP_001004747 Q8NGG3 OR5T3_HUMAN Homo sapiens olfactory receptor, family 5, subfamily T, member 3 (OR5T3), mRNA. 274 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.H274Q(2)|p.S273S(1) breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3) 39 Esophageal squamous(21;0.00448) GTGGCTCTCACCTAACTGGAG 0.408000 111 26 0 0 0.003330 0 0 VPS13D 55187 broad.mit.edu 37 1 12336378 12336378 + Silent SNP T G G TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr1:12336378T>G uc001atv.3 + 18 2874 c.2733T>G c.(2731-2733)acT>acG p.T911T VPS13D_uc001atw.3_Silent_p.T911T|VPS13D_uc001atx.3_Silent_p.T99T NM_015378 NP_056193 Q5THJ4 VP13D_HUMAN Homo sapiens vacuolar protein sorting 13 homolog D (S. cerevisiae) (VPS13D), transcript variant 1, mRNA. 911 protein localization NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4) 130 Ovarian(185;0.249) Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209) CTTCTGACACTCAGATTAAAG 0.398000 OREG0013110 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 28 13 0 0 0.001855 0 0 NLRP4 147945 broad.mit.edu 37 19 56369884 56369884 + Silent SNP C T T TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr19:56369884C>T uc002qmd.4 + 2 1547 c.1125C>T c.(1123-1125)ttC>ttT p.F375F NLRP4_uc002qmf.3_Silent_p.F300F|NLRP4_uc010etf.3_Silent_p.F206F NM_134444 NP_604393 Q96MN2 NALP4_HUMAN Homo sapiens NLR family, pyrin domain containing 4 (NLRP4), mRNA. 375 NACHT. ATP binding breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8) 42 Colorectal(82;0.0002)|Ovarian(87;0.221) GBM - Glioblastoma multiforme(193;0.0606) ACTCCTCTTTCGTCTTTAACC 0.572000 66 18 0 0 0.004990 0 0 SLC22A16 85413 broad.mit.edu 37 6 110759972 110759972 + Missense_Mutation SNP G A A TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr6:110759972G>A uc003puf.3 - 4 1329 c.1262C>T c.(1261-1263)tCt>tTt p.S421F SLC22A16_uc003pue.3_Missense_Mutation_p.S402F NM_033125 NP_149116 Q86VW1 S22AG_HUMAN Homo sapiens solute carrier family 22 (organic cation/carnitine transporter), member 16 (SLC22A16), mRNA. 421 acid secretion|cell differentiation|multicellular organismal development|single fertilization|sperm motility|spermatogenesis integral to membrane carnitine transporter activity breast(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 34 all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101) OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115) GCAGAAAAGAGAGTAGGCCAG 0.498000 52 16 0 0 0.004990 0 0 ASB10 136371 broad.mit.edu 37 7 150883923 150883923 + Missense_Mutation SNP G A A TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr7:150883923G>A uc003wjm.1 - 0 556 c.295C>T c.(295-297)Cgc>Tgc p.R99C ASB10_uc003wjl.1_Missense_Mutation_p.R99C|ASB10_uc003wjn.1_Intron NM_001142459 NP_001135931 Q8WXI3 ASB10_HUMAN Homo sapiens ankyrin repeat and SOCS box containing 10 (ASB10), transcript variant 1, mRNA. 99 intracellular signal transduction p.R99C(3) NS(1)|endometrium(2)|lung(7)|skin(2) 12 OV - Ovarian serous cystadenocarcinoma(82;0.00448) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) ATGTTGAAGCGGAAATCCCTC 0.637000 27 5 0 0 0.000602 0 0 CDON 50937 broad.mit.edu 37 11 125830842 125830842 + Missense_Mutation SNP T C C TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr11:125830842T>C uc009zbw.3 - 19 3987 c.3859A>G c.(3859-3861)Acc>Gcc p.T1287A CDON_uc001qdb.4_Missense_Mutation_p.T641A|CDON_uc001qdc.4_Missense_Mutation_p.T1264A NM_001243597 NP_001230526 Q4KMG0 CDON_HUMAN Homo sapiens Cdon homolog (mouse) (CDON), transcript variant 1, mRNA. 1287 cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation integral to membrane|plasma membrane protein binding breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(9)|ovary(3)|prostate(2)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 61 all_hematologic(175;0.177) Breast(109;0.00157)|Lung NSC(97;0.0127)|all_lung(97;0.0133)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.51e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0604) TGTCCTCAGGTTTCCCGGGGC 0.537000 102 24 0 0 0.005443 0 0 PRAMEF12 390999 broad.mit.edu 37 1 12835842 12835842 + Silent SNP C T T TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr1:12835842C>T uc001aui.3 + 1 471 c.444C>T c.(442-444)atC>atT p.I148I NM_001080830 NP_001074299 O95522 PRA12_HUMAN Homo sapiens PRAME family member 12 (PRAMEF12), mRNA. 148 NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|urinary_tract(1) 23 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) TGATGGTGATCCTAGACCTTT 0.547000 112 34 0 0 0.004289 0 0 PAPPA 5069 broad.mit.edu 37 9 119094741 119094741 + Missense_Mutation SNP G A A TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr9:119094741G>A uc004bjn.3 + 11 3772 c.3391G>A c.(3391-3393)Gat>Aat p.D1131N PAPPA_uc011lxp.1_Missense_Mutation_p.D826N|PAPPA_uc011lxq.2_Missense_Mutation_p.D506N NM_002581 NP_002572 Q13219 PAPP1_HUMAN Homo sapiens pregnancy-associated plasma protein A, pappalysin 1 (PAPPA), mRNA. 1131 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 TCAGAGCCACGATCTAGGTAA 0.493000 29 15 0 0 0.003163 0 0 CSMD2 114784 broad.mit.edu 37 1 34090734 34090734 + Missense_Mutation SNP G A A TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr1:34090734G>A uc001bxm.1 - 33 5594 c.5417C>T c.(5416-5418)gCc>gTc p.A1806V CSMD2_uc001bxn.1_Missense_Mutation_p.A1766V|CSMD2_uc001bxo.1_Missense_Mutation_p.A679V NM_052896 NP_443128 Q7Z408 CSMD2_HUMAN Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA. 1766 CUB 11. 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) CCCCTGCAGGGCATAGCCGGA 0.642000 74 22 0 0 0.014323 0 0 SLC38A7 55238 broad.mit.edu 37 16 58712283 58712283 + Silent SNP G A A rs34881036 byFrequency TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr16:58712283G>A uc002eod.1 - 4 958 c.565C>T c.(565-567)Ctg>Ttg p.L189L SLC38A7_uc002eoc.1_Silent_p.L189L|SLC38A7_uc010vil.1_Silent_p.L100L|SLC38A7_uc002eoe.1_Silent_p.L189L NM_018231 NP_060701 Q9NVC3 S38A7_HUMAN Homo sapiens solute carrier family 38, member 7 (SLC38A7), mRNA. 189 amino acid transport|sodium ion transport integral to membrane endometrium(1)|large_intestine(2)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 13 GAGAGGGGCAGGATGAAGAGG 0.577000 45 20 0 0 0.007413 0 0 ANKRD26P3 100101938 broad.mit.edu 37 13 19868773 19868773 + RNA SNP C T T TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr13:19868773C>T uc010tck.2 - 12 c.1855G>A Homo sapiens ankyrin repeat domain 26 pseudogene 3 (ANKRD26P3), non-coding RNA. GCGTTCTGTTCCCGAGAAAGT 0.363000 8 3 0 0 0.004672 0 0 STEAP2 261729 broad.mit.edu 37 7 89859333 89859333 + Missense_Mutation SNP G A A TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr7:89859333G>A uc010len.3 + 4 1674 c.1168G>A c.(1168-1170)Gaa>Aaa p.E390K STEAP2_uc003uka.3_Missense_Mutation_p.E390K|STEAP2_uc003ujz.3_Missense_Mutation_p.E390K|STEAP2_uc003ukc.3_Missense_Mutation_p.E390K|STEAP2_uc003ukb.3_Missense_Mutation_p.E390K|STEAP2_uc003ukd.3_Missense_Mutation_p.E390K NM_001244944 NP_001231873 Q8NFT2 STEA2_HUMAN Homo sapiens STEAP family member 2, metalloreductase (STEAP2), transcript variant 4, mRNA. 390 Ferric oxidoreductase. Golgi to plasma membrane transport|electron transport chain|endocytosis|ion transport|iron ion homeostasis|regulated secretory pathway|response to hormone stimulus cytosol|early endosome|endosome membrane|integral to Golgi membrane|plasma membrane|trans-Golgi network transport vesicle|vesicular fraction electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity|transporter activity endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1) 15 all_hematologic(106;0.112) AAACTGGAGAGAATTCAGTTT 0.383000 139 52 0 0 0.014410 0 0 KIF21B 23046 broad.mit.edu 37 1 200946489 200946489 + Silent SNP C T T TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr1:200946489C>T uc001gvs.2 - 30 4493 c.4176G>A c.(4174-4176)gtG>gtA p.V1392V KIF21B_uc009wzl.2_Silent_p.V1392V|KIF21B_uc001gvr.2_Silent_p.V1379V|KIF21B_uc010ppn.2_Silent_p.V1379V NM_001252100 NP_001239029 O75037 KI21B_HUMAN Homo sapiens kinesin family member 21B (KIF21B), transcript variant 1, mRNA. 1392 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2) 83 CCCCTGAGATCACCTGGCCCG 0.582000 105 20 0 0 0.010504 0 0 MAP2K1 5604 broad.mit.edu 37 15 66774131 66774131 + Missense_Mutation SNP G A A TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr15:66774131G>A uc010bhq.3 + 5 1082 c.607G>A c.(607-609)Gag>Aag p.E203K MAP2K1_uc010ujp.2_Missense_Mutation_p.E181K NM_002755 NP_002746 Q02750 MP2K1_HUMAN Homo sapiens mitogen-activated protein kinase kinase 1 (MAP2K1), mRNA. 203 Protein kinase. MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Ras protein signal transduction|Toll signaling pathway|activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|plasma membrane ATP binding|MAP kinase kinase activity|protein serine/threonine kinase activity|protein tyrosine kinase activity p.E203K(6) endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(8)|urinary_tract(1) 20 CTCCCGTGGGGAGATCAAGCT 0.522000 56 17 0 0 0.004990 0 0 FOXM1 2305 broad.mit.edu 37 12 2968800 2968800 + Silent SNP A G G TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr12:2968800A>G uc001qlf.3 - 8 1579 c.1296T>C c.(1294-1296)ccT>ccC p.P432P LOC100507424_uc021qtc.1_Non-coding_Transcript|FOXM1_uc001qle.3_Silent_p.P470P|FOXM1_uc009zea.3_Silent_p.P417P|FOXM1_uc009zeb.3_Silent_p.P416P|FOXM1_uc001qlg.3_Silent_p.P417P NM_021953 NP_068772 Q08050 FOXM1_HUMAN Homo sapiens forkhead box M1 (FOXM1), transcript variant 2, mRNA. 432 cell cycle|embryo development|liver development|negative regulation of cell aging|negative regulation of stress-activated MAPK cascade|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|positive regulation of cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of Ras protein signal transduction|regulation of cell cycle arrest|regulation of cell growth|regulation of cell proliferation|regulation of oxygen and reactive oxygen species metabolic process|regulation of reactive oxygen species metabolic process|regulation of sequence-specific DNA binding transcription factor activity|tissue development|transcription from RNA polymerase II promoter|vasculogenesis cytoplasm|transcription factor complex DNA bending activity|DNA binding|double-stranded DNA binding|promoter binding|protein binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|transcription factor binding breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(3) 24 OV - Ovarian serous cystadenocarcinoma(31;0.000622) CAGAAGAAAGAGGAGCTATCC 0.488000 16 7 0 0 0.001984 0 0 BCKDHA 593 broad.mit.edu 37 19 41916548 41916548 + Missense_Mutation SNP C T T TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr19:41916548C>T uc002oqq.3 + 1 154 c.115C>T c.(115-117)Ccc>Tcc p.P39S BCKDHA_uc002oqm.4_Missense_Mutation_p.P73S|BCKDHA_uc002oqp.2_5'UTR|BCKDHA_uc002oqr.3_Missense_Mutation_p.P39S|BCKDHA_uc010xvz.2_Intron NM_000709 NP_000700 P12694 ODBA_HUMAN Homo sapiens branched chain keto acid dehydrogenase E1, alpha polypeptide (BCKDHA), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 39 P -> H (in dbSNP:rs34589432). branched chain family amino acid catabolic process mitochondrial alpha-ketoglutarate dehydrogenase complex 3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity|alpha-ketoacid dehydrogenase activity|carboxy-lyase activity|metal ion binding|protein binding p.P39T(2) central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1) 10 CCAGCACCCCCCCAGGCAGCA 0.607000 49 15 0 0 0.007413 0 0 ASXL3 80816 broad.mit.edu 37 18 31323472 31323472 + Silent SNP C T T TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr18:31323472C>T uc010dmg.1 + 11 3715 c.3660C>T c.(3658-3660)acC>acT p.T1220T ASXL3_uc002kxq.2_Silent_p.T927T NM_030632 NP_085135 Q9C0F0 ASXL3_HUMAN Homo sapiens additional sex combs like 3 (Drosophila) (ASXL3), mRNA. 1220 Ser-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1) 43 TTTCATCTACCTCTTCTGAAA 0.383000 36 15 0 0 0.002450 0 0 MDGA2 161357 broad.mit.edu 37 14 47504453 47504453 + Missense_Mutation SNP C T T TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr14:47504453C>T uc001wwj.4 - 7 1738 c.1580G>A c.(1579-1581)gGa>gAa p.G527E MDGA2_uc001wwi.4_Missense_Mutation_p.G229E|MDGA2_uc010ani.3_Missense_Mutation_p.G18E NM_001113498 NP_878250 Q7Z553 MDGA2_HUMAN Homo sapiens MAM domain containing glycosylphosphatidylinositol anchor 2 (MDGA2), transcript variant 1, mRNA. 458 Ig-like 5. spinal cord motor neuron differentiation anchored to membrane|plasma membrane breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5) 76 TATTGTGTCTCCTTCTCTGGT 0.398000 62 26 0 0 0.005443 0 0 NADK 65220 broad.mit.edu 37 1 1696761 1696761 + Missense_Mutation SNP C T T TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr1:1696761C>T uc001aic.3 - 1 307 c.85G>A c.(85-87)Gat>Aat p.D29N NADK_uc001aid.4_Missense_Mutation_p.D29N|NADK_uc001aie.3_Missense_Mutation_p.D29N|NADK_uc009vkx.1_5'UTR NM_023018 NP_075394 O95544 NADK_HUMAN Homo sapiens NAD kinase (NADK), transcript variant 1, mRNA. 29 ATP metabolic process|NAD metabolic process|water-soluble vitamin metabolic process cytosol ATP binding|NAD+ kinase activity|metal ion binding|protein binding NS(1)|autonomic_ganglia(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|stomach(1)|urinary_tract(1) 17 all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;5.61e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-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;8.75e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.33e-23)|GBM - Glioblastoma multiforme(42;1.35e-07)|Colorectal(212;0.000203)|COAD - Colon adenocarcinoma(227;0.000225)|Kidney(185;0.00265)|STAD - Stomach adenocarcinoma(132;0.00655)|BRCA - Breast invasive adenocarcinoma(365;0.00855)|KIRC - Kidney renal clear cell carcinoma(229;0.0382)|Lung(427;0.207) CAGGTCTCATCGCCGTGGCAG 0.562000 72 18 0 0 0.004990 0 0 DAGLA 747 broad.mit.edu 37 11 61503210 61503211 + Splice_Site DNP GG AA AA TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr11:61503210_61503211GG>AA uc001nsa.3 + 12 1329 c.1213_splice c.e12-1 p.D405_splice NM_006133 NP_006124 Q9Y4D2 DGLA_HUMAN Homo sapiens diacylglycerol lipase, alpha (DAGLA), mRNA. 405 cell death|lipid catabolic process|platelet activation integral to membrane|plasma membrane acylglycerol lipase activity|metal ion binding|triglyceride lipase activity breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4) 43 READ - Rectum adenocarcinoma(4;0.219) CTCTCCCCAAGGATGCCCTGAC 0.678000 16 4 0 0 0.004672 0 0 PCLO 27445 broad.mit.edu 37 7 82451966 82451966 + Missense_Mutation SNP G A A TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr7:82451966G>A uc003uhx.2 - 19 14925 c.14636C>T c.(14635-14637)cCt>cTt p.P4879L PCLO_uc003uhv.2_Missense_Mutation_p.P4879L|PCLO_uc003uht.1_Missense_Mutation_p.P321L|PCLO_uc003uhu.1_Missense_Mutation_p.P300L NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA. 4741 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 TGAGCTACCAGGACTACTATG 0.468000 187 60 0 0 0.014410 0 0 CPAMD8 27151 broad.mit.edu 37 19 17017764 17017764 + Missense_Mutation SNP C T T TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr19:17017764C>T uc002nfb.3 - 29 4198 c.4166G>A c.(4165-4167)cGa>cAa p.R1389Q NM_015692 NP_056507 Q8IZJ3 CPMD8_HUMAN Homo sapiens C3 and PZP-like, alpha-2-macroglobulin domain containing 8 (CPAMD8), mRNA. 1342 extracellular space|plasma membrane serine-type endopeptidase inhibitor activity breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5) 82 ACACCTACCTCGCATGATGGC 0.602000 13 4 0 0 0.009096 0 0 SLC9C2 284525 broad.mit.edu 37 1 173567150 173567150 + Missense_Mutation SNP G A A TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr1:173567150G>A uc001giz.2 - 3 673 c.250C>T c.(250-252)Ctt>Ttt p.L84F SLC9C2_uc010pmq.1_Non-coding_Transcript NM_178527 NP_848622 Q5TAH2 S9A11_HUMAN Homo sapiens solute carrier family 9, member 11 (SLC9A11), mRNA. 84 sodium ion transport integral to membrane ion channel activity|solute:hydrogen antiporter activity GTTCTTAGAAGAGGGTAGACA 0.308000 31 25 0 0 0.002780 0 0 OR2M3 127062 broad.mit.edu 37 1 248367008 248367008 + Silent SNP C T T TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr1:248367008C>T uc010pzg.2 + 0 639 c.639C>T c.(637-639)atC>atT p.I213I NM_001004689 NP_001004689 Q8NG83 OR2M3_HUMAN Homo sapiens olfactory receptor, family 2, subfamily M, member 3 (OR2M3), mRNA. 213 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 50 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;0.0245) CTGTTGCAATCATCATTGCTT 0.428000 194 101 0 0 0.014410 0 0 OR10A6 390093 broad.mit.edu 37 11 7949494 7949494 + Missense_Mutation SNP G A A TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr11:7949494G>A uc010rbh.2 - 0 716 c.716C>T c.(715-717)tCc>tTc p.S239F NM_001004461 NP_001004461 Q8NH74 O10A6_HUMAN Homo sapiens olfactory receptor, family 10, subfamily A, member 6 (OR10A6), mRNA. 239 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) GGCACAGGTGGAAAAGGCCTT 0.443000 52 16 0 0 0.003163 0 0 FAM83H 286077 broad.mit.edu 37 8 144808643 144808643 + Silent SNP G A A TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr8:144808643G>A uc003yzk.3 - 4 3057 c.2988C>T c.(2986-2988)ccC>ccT p.P996P NM_198488 NP_940890 Q6ZRV2 FA83H_HUMAN Homo sapiens family with sequence similarity 83, member H (FAM83H), mRNA. 996 biomineral tissue development central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1) 21 all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146) GCGGGCTCTCGGGTTGGCCGT 0.697000 18 14 0 0 0.002450 0 0 TFPI 7035 broad.mit.edu 37 2 188361801 188361801 + Silent SNP C T T TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr2:188361801C>T uc002upy.3 - 2 421 c.126G>A c.(124-126)acG>acA p.T42T TFPI_uc002uqa.2_Silent_p.T42T|TFPI_uc002uqb.2_Silent_p.T42T NM_006287 NP_006278 P10646 TFPI1_HUMAN Homo sapiens tissue factor pathway inhibitor (lipoprotein-associated coagulation inhibitor) (TFPI), transcript variant 1, mRNA. 42 blood coagulation, extrinsic pathway extracellular space|plasma membrane serine-type endopeptidase inhibitor activity breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1) 9 OV - Ovarian serous cystadenocarcinoma(117;0.0554) Coagulation factor VIIa(DB00036) GTGGCAACTCCGTATCTATAA 0.303000 16 9 0 0 0.006214 0 0 RELN 5649 broad.mit.edu 37 7 103338459 103338459 + Nonsense_Mutation SNP C T T TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr7:103338459C>T uc022ajr.1 - 9 1144 c.984G>A c.(982-984)tgG>tgA p.W328* RELN_uc022ajq.1_Nonsense_Mutation_p.W328*|RELN_uc010liz.3_Nonsense_Mutation_p.W328* NM_005045 NP_005036 P78509 RELN_HUMAN Homo sapiens reelin (RELN), transcript variant 1, mRNA. 328 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) TTTCCTGCTTCCACTGAAATT 0.453000 109 33 0 0 0.010818 0 0 HNRNPA3 220988 broad.mit.edu 37 2 178080485 178080485 + Missense_Mutation SNP G A A TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr2:178080485G>A uc002ulb.1 + 2 309 c.203G>A c.(202-204)aGa>aAa p.R68K HNRNPA3_uc002ulc.1_Missense_Mutation_p.R68K|HNRNPA3_uc002uld.2_Missense_Mutation_p.R46K|HNRNPA3_uc002ule.3_5'Flank NM_194247 NP_919223 P51991 ROA3_HUMAN Homo sapiens heterogeneous nuclear ribonucleoprotein A3 (HNRNPA3), mRNA. 68 RRM 1. catalytic step 2 spliceosome|nucleolus|nucleoplasm RNA binding|nucleotide binding|protein binding breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|urinary_tract(1) 16 TAGGTAATGAGAGACCCCCAA 0.428000 51 17 0 0 0.006122 0 0 ACTG2 72 broad.mit.edu 37 2 74135895 74135895 + Silent SNP G A A TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr2:74135895G>A uc002sjw.3 + 3 473 c.351G>A c.(349-351)agG>agA p.R117R ACTG2_uc010yrn.2_Silent_p.R74R|ACTG2_uc010fey.3_Silent_p.R117R NM_001615 NP_001606 P63267 ACTH_HUMAN Homo sapiens actin, gamma 2, smooth muscle, enteric (ACTG2), transcript variant 1, mRNA. 117 muscle contraction cytoskeleton|cytosol ATP binding large_intestine(3)|lung(14)|skin(1) 18 AGGCCAACAGGGAAAAGATGA 0.507000 22 5 0 0 0.000602 0 0 UTS2R 2837 broad.mit.edu 37 17 80333227 80333227 + Missense_Mutation SNP C T T TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr17:80333227C>T uc010wvl.2 + 0 1027 c.1027C>T c.(1027-1029)Ccc>Tcc p.P343S NM_018949 NP_061822 Q9UKP6 UR2R_HUMAN Homo sapiens urotensin 2 receptor (UTS2R), mRNA. 343 integral to membrane|plasma membrane breast(1)|endometrium(4)|kidney(1)|lung(2) 8 Breast(20;0.00106)|all_neural(118;0.0804) OV - Ovarian serous cystadenocarcinoma(97;0.00928)|BRCA - Breast invasive adenocarcinoma(99;0.0833) ggggcccgTTCCCTCCCTGCA 0.751000 14 7 0 0 0.001984 0 0 SCN4A 6329 broad.mit.edu 37 17 62045702 62045702 + Silent SNP G A A TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr17:62045702G>A uc002jds.1 - 5 794 c.717C>T c.(715-717)atC>atT p.I239I NM_000334 NP_000325 P35499 SCN4A_HUMAN Homo sapiens sodium channel, voltage-gated, type IV, alpha subunit (SCN4A), mRNA. 239 muscle contraction voltage-gated sodium channel complex voltage-gated sodium channel activity breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 101 Lamotrigine(DB00555) GGGCCCCCACGATCGTCTTCA 0.602000 33 21 0 0 0.012319 0 0 SEC61A1 29927 broad.mit.edu 37 3 127786443 127786443 + Silent SNP C T T TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr3:127786443C>T uc003ekb.3 + 9 1339 c.1155C>T c.(1153-1155)tcC>tcT p.S385S RUVBL1_uc003ekf.3_Intron|SEC61A1_uc003ekc.3_Silent_p.S332S|SEC61A1_uc003ekd.3_Silent_p.S265S|SEC61A1_uc003ekg.3_Silent_p.S79S NM_013336 NP_037468 P61619 S61A1_HUMAN Homo sapiens Sec61 alpha 1 subunit (S. cerevisiae) (SEC61A1), mRNA. 385 protein targeting to ER integral to endoplasmic reticulum membrane P-P-bond-hydrolysis-driven protein transmembrane transporter activity|protein binding|ribosome binding central_nervous_system(1)|kidney(1)|large_intestine(5)|liver(1)|lung(8)|ovary(1)|prostate(4) 21 TCTCAGGTTCCTCTGCCAAAG 0.458000 47 18 0 0 0.008871 0 0 PTCHD2 57540 broad.mit.edu 37 1 11591711 11591711 + Missense_Mutation SNP G A A TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr1:11591711G>A uc001ash.4 + 16 3457 c.3319G>A c.(3319-3321)Ggg>Agg p.G1107R NM_020780 NP_065831 Q9P2K9 PTHD2_HUMAN Homo sapiens patched domain containing 2 (PTCHD2), mRNA. 1107 cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway endoplasmic reticulum|integral to membrane|nuclear membrane hedgehog receptor activity NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 76 Ovarian(185;0.249) Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549) GCTGTCCCACGGGGCAGTGGG 0.662000 63 17 0 0 0.004990 0 0 ROS1 6098 broad.mit.edu 37 6 117622149 117622149 + Missense_Mutation SNP C T T TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr6:117622149C>T uc003pxp.1 - 41 6920 c.6721G>A c.(6721-6723)Gaa>Aaa p.E2241K ROS1_uc011ebi.1_Non-coding_Transcript|RN7SK_uc021zee.1_5'Flank NM_002944 NP_002935 P08922 ROS_HUMAN Homo sapiens c-ros oncogene 1 , receptor tyrosine kinase (ROS1), mRNA. 2241 transmembrane receptor protein tyrosine kinase signaling pathway membrane fraction|sodium:potassium-exchanging ATPase complex ATP binding|transmembrane receptor protein tyrosine kinase activity TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7) NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 162 all_cancers(87;0.00846)|all_epithelial(87;0.0242) GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137) TCAAAGCTTTCATTTATGACT 0.323000 T """GOPC, SDC4, SLC34A2, EZR, LRIG3""" """glioblastoma, NSCLC""" 36 13 0 0 0.013537 0 0 C17orf101 79701 broad.mit.edu 37 17 80369340 80369340 + Missense_Mutation SNP C T T TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr17:80369340C>T uc002ket.2 - 2 523 c.371G>A c.(370-372)cGg>cAg p.R124Q C17orf101_uc010dip.2_Non-coding_Transcript|C17orf101_uc002keu.2_Missense_Mutation_p.R124Q NM_175902 NP_787098 Q6PK18 CQ101_HUMAN Homo sapiens chromosome 17 open reading frame 101 (C17orf101), transcript variant 2, mRNA. 124 integral to membrane L-ascorbic acid binding|iron ion binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|upper_aerodigestive_tract(1) 14 CCTGCGAATCCGCTCCGCTTC 0.582000 40 6 0 0 0.001168 0 0 ZPLD1 131368 broad.mit.edu 37 3 102196382 102196382 + Silent SNP C T T TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr3:102196382C>T uc003dvt.1 + 10 1316 c.1216C>T c.(1216-1218)Ctg>Ttg p.L406L ZPLD1_uc003dvs.1_Silent_p.L390L|ZPLD1_uc011bhg.1_Silent_p.L390L NM_175056 NP_778226 Q8TCW7 ZPLD1_HUMAN Homo sapiens zona pellucida-like domain containing 1 (ZPLD1), mRNA. 390 integral to membrane central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(18)|ovary(2)|skin(3) 35 TTCTCTTCTTCTGTGCTCACT 0.488000 146 56 0 0 0.014410 0 0 SCN9A 6335 broad.mit.edu 37 2 167055571 167055571 + Missense_Mutation SNP G A A TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr2:167055571G>A uc010fpl.3 - 26 5886 c.5545C>T c.(5545-5547)Cgt>Tgt p.R1849C BC051759_uc002udp.3_Intron NM_002977 NP_002968 Q15858 SCN9A_HUMAN Homo sapiens sodium channel, voltage-gated, type IX, alpha subunit (SCN9A), mRNA. 1860 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) ATCTGTGAACGAAGAGAATCC 0.453000 112 32 0 0 0.003271 0 0 PSG9 5678 broad.mit.edu 37 19 43766210 43766210 + Missense_Mutation SNP G A A TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr19:43766210G>A uc002owd.4 - 2 610 c.511C>T c.(511-513)Cct>Tct p.P171S PSG9_uc002owe.4_Missense_Mutation_p.P171S|PSG9_uc010xwm.2_Intron|PSG9_uc002owf.4_Intron|PSG9_uc002owg.2_Missense_Mutation_p.P171S NM_002784 NP_002775 Q00887 PSG9_HUMAN Homo sapiens pregnancy specific beta-1-glycoprotein 9 (PSG9), mRNA. 171 Ig-like C2-type 1. 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) AGAGTCTCAGGATCACAGATT 0.532000 184 66 0 0 0.014410 0 0 C15orf2 23742 broad.mit.edu 37 15 24922085 24922085 + Silent SNP C T T TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr15:24922085C>T uc001ywo.3 + 0 1545 c.1071C>T c.(1069-1071)ctC>ctT p.L357L NM_018958 NP_061831 Q9NZP6 CO002_HUMAN Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA. 357 Pro-rich. cell differentiation|multicellular organismal development|spermatogenesis NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(1)|large_intestine(28)|lung(77)|ovary(5)|pancreas(1)|skin(8) 140 all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086) all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229) CTGCTAAGCTCCCCTGCCTGT 0.527000 33 11 0 0 0.010729 0 0 MANSC1 54682 broad.mit.edu 37 12 12483803 12483803 + Missense_Mutation SNP G A A TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr12:12483803G>A uc001rai.1 - 3 712 c.454C>T c.(454-456)Ccc>Tcc p.P152S MANSC1_uc010shm.1_Missense_Mutation_p.P86S|MANSC1_uc001raj.1_Missense_Mutation_p.P118S NM_018050 NP_060520 Q9H8J5 MANS1_HUMAN Homo sapiens MANSC domain containing 1 (MANSC1), mRNA. 152 integral to membrane breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|skin(1)|stomach(4) 23 Prostate(47;0.0865) BRCA - Breast invasive adenocarcinoma(232;0.185) TGGGCTAGGGGAGTGACTGCT 0.428000 66 19 0 0 0.010504 0 0 CSMD1 64478 broad.mit.edu 37 8 2886972 2886972 + Missense_Mutation SNP C T T TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr8:2886972C>T uc022aqr.1 - 50 8114 c.7724G>A c.(7723-7725)gGa>gAa p.G2575E CSMD1_uc011kwj.2_Missense_Mutation_p.G1905E|CSMD1_uc010lrg.3_Missense_Mutation_p.G644E NM_033225 NP_150094 Q96PZ7 CSMD1_HUMAN Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA. 2576 Sushi 16. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) ATTCAAGGATCCTGAAACCAG 0.522000 14 5 0 0 0.000602 0 0 MYH1 4619 broad.mit.edu 37 17 10399779 10399779 + Missense_Mutation SNP C T T TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr17:10399779C>T uc002gmo.3 - 33 4838 c.4744G>A c.(4744-4746)Gaa>Aaa p.E1582K AK097500_uc002gml.1_Intron NM_005963 NP_005954 P12882 MYH1_HUMAN Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA. 1582 muscle myosin complex|myofibril|myosin filament ATP binding|actin binding|calmodulin binding|motor activity NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5) 176 TCATCTTTTTCAGCAATTTTC 0.448000 101 39 0 0 0.007835 0 0 PEG3 5178 broad.mit.edu 37 19 57328594 57328594 + Missense_Mutation SNP C T T TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr19:57328594C>T uc002qnu.2 - 6 1567 c.1216G>A c.(1216-1218)Gat>Aat p.D406N PEG3_uc010ygr.1_Intron|PEG3_uc010ygq.1_Intron|PEG3_uc002qnr.2_Intron|PEG3_uc010etp.2_Intron|PEG3_uc010ygs.1_Intron|PEG3_uc002qnq.2_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.D377N|PEG3_uc002qnv.2_Missense_Mutation_p.D406N|PEG3_uc002qnw.2_Missense_Mutation_p.D282N|PEG3_uc002qnx.2_Missense_Mutation_p.D280N|PEG3_uc010etr.2_Missense_Mutation_p.D406N NM_001146186 NP_001139657 Q9GZU2 PEG3_HUMAN Homo sapiens paternally expressed 3 (PEG3), transcript variant 4, mRNA. 406 apoptosis|viral reproduction cytoplasm|nucleus nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.H405H(1) NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6) 170 Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0269) CCTTTTTGATCGTGAATCGAG 0.488000 105 28 0 0 0.007291 0 0 TNNT3 7140 broad.mit.edu 37 11 1955597 1955597 + Silent SNP G A A TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr11:1955597G>A uc001luu.4 + 11 614 c.402G>A c.(400-402)aaG>aaA p.K134K TNNT3_uc001lun.2_Intron|TNNT3_uc001luw.4_Silent_p.K126K|TNNT3_uc001luo.4_Silent_p.K126K|TNNT3_uc001lup.4_Silent_p.K132K|TNNT3_uc001luq.4_Silent_p.K126K|TNNT3_uc001lur.3_Silent_p.K126K|TNNT3_uc010qxf.2_Silent_p.K132K|TNNT3_uc010qxg.2_Silent_p.K66K NM_006757 NP_006748 P45378 TNNT3_HUMAN Homo sapiens troponin T type 3 (skeletal, fast) (TNNT3), transcript variant 1, mRNA. 145 muscle filament sliding|regulation of ATPase activity|regulation of striated muscle contraction|skeletal muscle contraction cytosol|troponin complex calcium-dependent protein binding|tropomyosin binding|troponin C binding|troponin I binding breast(2)|endometrium(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(4)|stomach(1) 19 all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00253)|Lung(200;0.0333)|LUSC - Lung squamous cell carcinoma(625;0.0826) AGGATGCCAAGAGGAGGGCAG 0.577000 32 11 0 0 0.013537 0 0 OTC 5009 broad.mit.edu 37 X 38262956 38262956 + Missense_Mutation SNP C T T rs72558417 TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chrX:38262956C>T uc004def.4 + 5 840 c.626C>T c.(625-627)gCg>gTg p.A209V NM_000531 NP_000522 P00480 OTC_HUMAN Homo sapiens ornithine carbamoyltransferase (OTC), nuclear gene encoding mitochondrial protein, mRNA. 209 A -> V (in OTCD; neonatal). arginine biosynthetic process|urea cycle mitochondrial matrix|ornithine carbamoyltransferase complex ornithine carbamoyltransferase activity p.A209A(1)|p.A208T(1) breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 22 L-Citrulline(DB00155)|L-Ornithine(DB00129) ATGAGCGCAGCGAAATTCGGA 0.478000 25 23 0 0 0.014323 0 0 PTPRJ 5795 broad.mit.edu 37 11 48168491 48168491 + Missense_Mutation SNP G A A TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr11:48168491G>A uc001ngp.4 + 14 3330 c.2975G>A c.(2974-2976)gGc>gAc p.G992D NM_002843 NP_002834 Q12913 PTPRJ_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, J (PTPRJ), transcript variant 1, mRNA. 992 contact inhibition|negative regulation of MAP kinase activity|negative regulation of T cell receptor signaling pathway|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of vascular permeability|platelet-derived growth factor receptor signaling pathway|positive chemotaxis|positive regulation of focal adhesion assembly|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression cell surface|cell-cell junction|immunological synapse|integral to plasma membrane|ruffle membrane beta-catenin binding|delta-catenin binding|gamma-catenin binding|mitogen-activated protein kinase binding|platelet-derived growth factor receptor binding|protein tyrosine phosphatase activity breast(3)|endometrium(7)|kidney(7)|large_intestine(5)|lung(15)|ovary(1)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 52 ACTGTGGGAGGCTTCATCTTC 0.408000 199 47 0 0 0.014410 0 0 NCKAP1L 3071 broad.mit.edu 37 12 54903641 54903641 + Missense_Mutation SNP G A A TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr12:54903641G>A uc001sgc.4 + 6 686 c.607G>A c.(607-609)Gga>Aga p.G203R NCKAP1L_uc010sox.2_5'UTR|NCKAP1L_uc010soy.2_Missense_Mutation_p.G153R NM_005337 NP_005328 P55160 NCKPL_HUMAN Homo sapiens NCK-associated protein 1-like (NCKAP1L), transcript variant 1, mRNA. 203 B cell homeostasis|B cell receptor signaling pathway|T cell homeostasis|actin polymerization-dependent cell motility|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of T cell proliferation|positive regulation of actin filament polymerization|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|protein complex assembly|response to drug SCAR complex|cytosol|integral to plasma membrane|membrane fraction Rac GTPase activator activity|protein complex binding|protein kinase activator activity NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2) 80 GGCTGTGAGTGGAGCCCTCCT 0.517000 190 63 0 0 0.014410 0 0 CRYGN 155051 broad.mit.edu 37 7 151135082 151135082 + Splice_Site SNP C T T TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr7:151135082C>T uc003wke.3 - 2 366 c.270_splice c.e2+1 p.M90_splice CRYGN_uc003wkf.3_Missense_Mutation_p.M90I|CRYGN_uc003wkg.3_Non-coding_Transcript|CRYGN_uc010lqd.1_5'Flank NM_144727 NP_653328 Q8WXF5 CRGN_HUMAN Homo sapiens crystallin, gamma N (CRYGN), mRNA. 90 central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(1)|lung(4) 8 OV - Ovarian serous cystadenocarcinoma(82;0.00358) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) GCCCACTCACCATTCCTACAG 0.642000 53 16 0 0 0.007413 0 0 PRDM9 56979 broad.mit.edu 37 5 23527787 23527787 + Missense_Mutation SNP G A A TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr5:23527787G>A uc003jgo.3 + 10 2772 c.2590G>A c.(2590-2592)Gag>Aag p.E864K NM_020227 NP_064612 Q9NQV7 PRDM9_HUMAN Homo sapiens PR domain containing 9 (PRDM9), mRNA. 864 meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleoplasm histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11) 172 CGTCTGCAGGGAGTGTGGGCG 0.582000 HNSCC(3;0.000094) 86 24 0 0 0.003330 0 0 ASB15 142685 broad.mit.edu 37 7 123269101 123269101 + Missense_Mutation SNP G C C TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr7:123269101G>C uc003vku.1 + 9 1345 c.1053G>C c.(1051-1053)aaG>aaC p.K351N ASB15_uc003vkw.1_Missense_Mutation_p.K351N NM_080928 NP_563616 Q8WXK1 ASB15_HUMAN Homo sapiens ankyrin repeat and SOCS box containing 15 (ASB15), mRNA. 351 intracellular signal transduction breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(3) 12 ATGAGAGGAAGACTGCGCTGT 0.448000 67 22 0 0 0.002780 0 0 SHBG 6462 broad.mit.edu 37 17 7535262 7535262 + Missense_Mutation SNP G A A TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr17:7535262G>A uc002gie.2 + 5 819 c.781G>A c.(781-783)Ggc>Agc p.G261S SHBG_uc010cmu.2_Missense_Mutation_p.G203S|SHBG_uc010cmo.2_Missense_Mutation_p.G149S|SHBG_uc010cmp.2_Intron|SHBG_uc010cmq.2_Missense_Mutation_p.G149S|SHBG_uc010cmr.2_Intron|SHBG_uc010cms.2_Intron|SHBG_uc010cmt.2_Missense_Mutation_p.G203S|SHBG_uc010cmz.2_Intron|SHBG_uc010cmv.2_Missense_Mutation_p.G149S|SHBG_uc010cmw.2_Intron|SHBG_uc010cmx.2_Intron|SHBG_uc010cmy.2_Missense_Mutation_p.G203S|SHBG_uc002gid.3_Missense_Mutation_p.G203S|SHBG_uc010cnd.2_Intron|SHBG_uc010cna.2_Intron|SHBG_uc010vue.1_Missense_Mutation_p.G243S|SHBG_uc010vuf.1_Missense_Mutation_p.G261S|SHBG_uc010cnb.2_Intron|SHBG_uc010cnc.2_Missense_Mutation_p.G207S NM_001040 NP_001031 P04278 SHBG_HUMAN Homo sapiens sex hormone-binding globulin (SHBG), transcript variant 1, mRNA. 261 Laminin G-like 2. hormone transport extracellular region androgen binding|protein homodimerization activity p.0?(1)|p.?(1) cervix(1)|endometrium(2)|large_intestine(4)|lung(2)|skin(1) 10 all_cancers(10;0.0867) READ - Rectum adenocarcinoma(115;0.168) Danazol(DB01406)|Dromostanolone(DB00858)|Estradiol(DB00783)|Estrone(DB00655)|Fluoxymesterone(DB01185)|Hydrocortisone(DB00741)|Mitotane(DB00648)|Norethindrone(DB00717)|Testosterone(DB00624) GCAGGCAGCAGGCTCAGGCCA 0.567000 180 45 0 0 0.014410 0 0 OR2D2 120776 broad.mit.edu 37 11 6913692 6913692 + Missense_Mutation SNP G A A TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr11:6913692G>A uc010rau.2 - 0 40 c.40C>T c.(40-42)Ctt>Ttt p.L14F NM_003700 NP_003691 Q9H210 OR2D2_HUMAN Homo sapiens olfactory receptor, family 2, subfamily D, member 2 (OR2D2), mRNA. 14 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(9)|ovary(1)|skin(2) 18 Medulloblastoma(188;0.0523)|all_neural(188;0.236) Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129) AGTCCCAGAAGGAGGAATTCT 0.433000 58 14 0 0 0.004007 0 0 PCDHGC5 56097 broad.mit.edu 37 5 140724182 140724182 + Silent SNP G A A TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr5:140724182G>A uc003ljm.2 + 0 582 c.582G>A c.(580-582)ctG>ctA p.L194L PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc011dap.2_Silent_p.L194L NM_018916 NP_061739 Q9Y5F6 PCDGM_HUMAN Homo sapiens protocadherin gamma subfamily A, 3 (PCDHGA3), transcript variant 1, mRNA. 194 Cadherin 2. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.L194L(1) breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2) 35 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ATCCAGAGCTGGTGCTGGAGC 0.537000 49 27 0 0 0.004656 0 0 ADAM28 10863 broad.mit.edu 37 8 24167700 24167701 + Missense_Mutation DNP GG AC AC rs150620720 TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr8:24167700_24167701GG>AC uc003xdy.3 + 3 335_336 c.252_253GG>AC c.(250-255)acggaa>acACaa p.E85Q ADAM28_uc003xdx.3_Missense_Mutation_p.E85Q|ADAM28_uc011kzz.2_5'UTR|ADAM28_uc011laa.2_Non-coding_Transcript NM_014265 NP_055080 Q9UKQ2 ADA28_HUMAN Homo sapiens ADAM metallopeptidase domain 28 (ADAM28), transcript variant 1, mRNA. 85 proteolysis|spermatogenesis extracellular region|integral to membrane|plasma membrane metalloendopeptidase activity|zinc ion binding central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 Prostate(55;0.0959) Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175) CAGGCTACACGGAAACATATTA 0.396000 14 3 0 0 0.004672 0 0 SCN10A 6336 broad.mit.edu 37 3 38750978 38750978 + Silent SNP C T T TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr3:38750978C>T uc003ciq.3 - 23 4272 c.4272G>A c.(4270-4272)caG>caA p.Q1424Q NM_006514 NP_006505 Q9Y5Y9 SCNAA_HUMAN Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA. 1424 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) TCTTTTTTTTCTGTTGATTGA 0.413000 60 13 0 0 0.001855 0 0 PTPRT 11122 broad.mit.edu 37 20 40979339 40979339 + Silent SNP G A A TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr20:40979339G>A uc002xkg.3 - 10 1978 c.1794C>T c.(1792-1794)acC>acT p.T598T PTPRT_uc010ggj.3_Silent_p.T598T NM_007050 NP_008981 O14522 PTPRT_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA. 598 Fibronectin type-III 4. homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway cell surface|integral to membrane|plasma membrane alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 176 Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783) CATTCAATGGGGTGTCTGTGT 0.567000 76 18 0 0 0.004990 0 0 PDE1C 5137 broad.mit.edu 37 7 31887622 31887622 + Missense_Mutation SNP C T T TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr7:31887622C>T uc003tcm.2 - 8 1401 c.940G>A c.(940-942)Gaa>Aaa p.E314K PDE1C_uc003tcn.1_Missense_Mutation_p.E314K|PDE1C_uc003tco.2_Missense_Mutation_p.E374K|PDE1C_uc003tcr.3_Missense_Mutation_p.E314K|PDE1C_uc003tcs.3_Missense_Mutation_p.E314K NM_001191057 NP_001177988 Q14123 PDE1C_HUMAN Homo sapiens phosphodiesterase 1C, calmodulin-dependent 70kDa (PDE1C), transcript variant 2, mRNA. 314 Catalytic (By similarity). activation of phospholipase C activity|nerve growth factor receptor signaling pathway cytosol calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 81 GBM - Glioblastoma multiforme(11;0.216) ATATTCATTTCCTCGTCATCT 0.408000 35 14 0 0 0.001855 0 0 FRA10AC1 118924 broad.mit.edu 37 10 95430554 95430554 + Missense_Mutation SNP G A A TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr10:95430554G>A uc001kiz.2 - 12 1076 c.878C>T c.(877-879)cCa>cTa p.P293L FRA10AC1_uc001kiv.2_Non-coding_Transcript NM_145246 NP_660289 Q70Z53 F10C1_HUMAN Homo sapiens fragile site, folic acid type, rare, fra(10)(q23.3) or fra(10)(q24.2) candidate 1 (FRA10AC1), mRNA. 293 nucleus protein binding NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|urinary_tract(1) 14 CTCTGGTAGTGGACCCTTCCA 0.323000 19 6 0 0 0.001168 0 0 KIF1B 23095 broad.mit.edu 37 1 10425692 10425692 + Missense_Mutation SNP G A A TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr1:10425692G>A uc001aqx.4 + 42 4940 c.4738G>A c.(4738-4740)Gag>Aag p.E1580K KIF1B_uc001aqw.4_Missense_Mutation_p.E1534K|KIF1B_uc001aqy.3_Missense_Mutation_p.E1554K|KIF1B_uc001aqz.3_Missense_Mutation_p.E1580K|KIF1B_uc001ara.3_Missense_Mutation_p.E1540K|KIF1B_uc001arb.3_Missense_Mutation_p.E1566K NM_015074 NP_055889 O60333 KIF1B_HUMAN Homo sapiens kinesin family member 1B (KIF1B), transcript variant 1, mRNA. 1580 anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2) 71 Ovarian(185;0.203) all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642) CCGAGAGAAAGAGCTGGCTAC 0.493000 50 16 0 0 0.003163 0 0 AADACL4 343066 broad.mit.edu 37 1 12726684 12726684 + Missense_Mutation SNP C T T TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr1:12726684C>T uc001auf.3 + 3 1162 c.1162C>T c.(1162-1164)Ctc>Ttc p.L388F NM_001013630 NP_001013652 Q5VUY2 ADCL4_HUMAN Homo sapiens arylacetamide deacetylase-like 4 (AADACL4), mRNA. 388 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) TAAGAAGGCTCTCTCTTTCCC 0.478000 70 15 0 0 0.004990 0 0 SALL1 6299 broad.mit.edu 37 16 51172979 51172979 + Nonsense_Mutation SNP G A A TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr16:51172979G>A uc021tif.1 - 1 3185 c.2863C>T c.(2863-2865)Cag>Tag p.Q955* SALL1_uc021tid.1_Nonsense_Mutation_p.Q955*|SALL1_uc021tie.1_Nonsense_Mutation_p.Q1052*|SALL1_uc010cbv.3_Intron NM_001127892 NP_001121364 Q9NSC2 SALL1_HUMAN Homo sapiens sal-like 1 (Drosophila) (SALL1), transcript variant 2, mRNA. 1052 adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|ureteric bud invasion|ventricular septum development chromocenter|cytoplasm|heterochromatin|nucleus DNA binding|beta-catenin binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.S954S(1) NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3) 126 all_cancers(37;0.0322) COAD - Colon adenocarcinoma(2;0.24) TCTCGCATCTGATGTGTCAAC 0.468000 24 9 0 0 0.004482 0 0 PRR14 78994 broad.mit.edu 37 16 30664259 30664259 + Silent SNP T C C TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr16:30664259T>C uc002dyy.3 + 4 597 c.339T>C c.(337-339)tgT>tgC p.C113C PRR14_uc002dyz.3_5'UTR|PRR14_uc002dza.3_Silent_p.C113C|PRR14_uc002dzb.1_5'Flank NM_024031 NP_076936 Q9BWN1 PRR14_HUMAN Homo sapiens proline rich 14 (PRR14), mRNA. 113 Pro-rich. breast(3)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|skin(1) 18 Colorectal(24;0.103) TGTGTTTGTGTCGCGAGCCCT 0.627000 48 15 0 0 0.004990 0 0 FUCA1 2517 broad.mit.edu 37 1 24181003 24181003 + Silent SNP G A A TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr1:24181003G>A uc001bie.3 - 4 899 c.816C>T c.(814-816)caC>caT p.H272H FUCA1_uc009vqt.2_Non-coding_Transcript NM_000147 NP_000138 P04066 FUCO_HUMAN Homo sapiens fucosidase, alpha-L- 1, tissue (FUCA1), mRNA. 272 fucose metabolic process|glycosaminoglycan catabolic process lysosome alpha-L-fucosidase activity|cation binding breast(1)|endometrium(1)|large_intestine(3)|lung(3) 8 Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.00957)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-24)|Colorectal(126;5.69e-08)|COAD - Colon adenocarcinoma(152;3.15e-06)|GBM - Glioblastoma multiforme(114;9.04e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|KIRC - Kidney renal clear cell carcinoma(1967;0.00342)|STAD - Stomach adenocarcinoma(196;0.0128)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.144) ATCCTCCATGGTGACAGGAAC 0.448000 96 37 0 0 0.003755 0 0 FMN2 56776 broad.mit.edu 37 1 240341353 240341353 + Missense_Mutation SNP G A A TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr1:240341353G>A uc010pye.2 + 2 2140 c.1915G>A c.(1915-1917)Gag>Aag p.E639K FMN2_uc010pyd.2_Missense_Mutation_p.E639K NM_020066 NP_064450 Q9NZ56 FMN2_HUMAN Homo sapiens formin 2 (FMN2), mRNA. 639 actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions actin binding NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2) 178 Ovarian(103;0.127) all_cancers(173;0.013) OV - Ovarian serous cystadenocarcinoma(106;0.0106) ACACAGGCTCGAGGATGCTGA 0.448000 38 6 0 0 0.001984 0 0 RGPD3 653489 broad.mit.edu 37 2 107041440 107041440 + Missense_Mutation SNP C T T TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr2:107041440C>T uc010ywi.1 - 19 3040 c.2983G>A c.(2983-2985)Gga>Aga p.G995R NM_001144013 NP_001137485 A6NKT7 RGPD3_HUMAN Homo sapiens RANBP2-like and GRIP domain containing 3 (RGPD3), mRNA. 995 intracellular transport binding breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2) 71 CCTGAAAATCCCTTGAAATTG 0.373000 154 57 0 0 0.014410 0 0 DUSP22 56940 broad.mit.edu 37 6 348772 348772 + Missense_Mutation SNP C T T TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr6:348772C>T uc003msx.3 + 6 878 c.439C>T c.(439-441)Cgg>Tgg p.R147W DUSP22_uc011dhn.1_Missense_Mutation_p.R147W|DUSP22_uc003msy.1_Missense_Mutation_p.R104W NM_020185 NP_064570 Q9NRW4 DUS22_HUMAN Homo sapiens dual specificity phosphatase 22 (DUSP22), mRNA. 147 apoptosis|cell proliferation|inactivation of MAPK activity|multicellular organismal development|positive regulation of JNK cascade|regulation of cell proliferation|transforming growth factor beta receptor signaling pathway cytoplasm|nucleus protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(2) 26 all_hematologic(77;0.228) Breast(5;0.0249)|all_hematologic(90;0.0489) OV - Ovarian serous cystadenocarcinoma(45;0.0277)|BRCA - Breast invasive adenocarcinoma(62;0.0669) TCTCCAGTATCGGCAGTGGCT 0.517000 103 15 0 0 0.004007 0 0 LEO1 123169 broad.mit.edu 37 15 52230438 52230438 + Missense_Mutation SNP T C C TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr15:52230438T>C uc002abo.3 - 11 1932 c.1916A>G c.(1915-1917)aAg>aGg p.K639R LEO1_uc010bfd.3_Missense_Mutation_p.K579R NM_138792 NP_620147 Q8WVC0 LEO1_HUMAN Homo sapiens Leo1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae) (LEO1), mRNA. 639 histone H2B ubiquitination|histone monoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent Cdc73/Paf1 complex protein binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|skin(1) 14 all cancers(107;0.00264) TGCTTTTCTCTTTCCGGAAGG 0.323000 11 4 0 0 0.000602 0 0 SCN1A 6323 broad.mit.edu 37 2 166892848 166892848 + Missense_Mutation SNP C T T TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr2:166892848C>T uc002udo.4 - 17 3366 c.3139G>A c.(3139-3141)Gaa>Aaa p.E1047K SCN1A_uc010fpk.3_Missense_Mutation_p.E1019K|SCN1A_uc021vsb.1_Missense_Mutation_p.E1036K NM_001202435 NP_001189364 P35498 SCN1A_HUMAN Homo sapiens sodium channel, voltage-gated, type I, alpha subunit (SCN1A), transcript variant 4, mRNA. 1047 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) GGTTTAATTTCATCTAAAATC 0.308000 25 13 0 0 0.013537 0 0 CYP2C19 1557 broad.mit.edu 37 10 96541683 96541683 + Missense_Mutation SNP G A A TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr10:96541683G>A uc010qnz.2 + 4 748 c.748G>A c.(748-750)Gaa>Aaa p.E250K CYP2C19_uc009xus.1_Missense_Mutation_p.E115K|CYP2C19_uc010qny.2_Missense_Mutation_p.E228K NM_000769 NP_000760 P33261 CP2CJ_HUMAN Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 19 (CYP2C19), mRNA. 250 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) GAAAGTAAAAGAACACCAAGA 0.338000 31 11 0 0 0.010729 0 0 PCDH11Y 83259 broad.mit.edu 37 Y 5605535 5605535 + Missense_Mutation SNP C T T TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chrY:5605535C>T uc004fqo.3 + 4 4309 c.3575C>T c.(3574-3576)cCt>cTt p.P1192L PCDH11Y_uc022ciy.1_5'Flank NM_032973 NP_116755 Q9BZA8 PC11Y_HUMAN Homo sapiens protocadherin 11 Y-linked (PCDH11Y), transcript variant c, mRNA. 1192 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 27 TGCCACAGCCCTCCAGTGACA 0.587000 39 46 0 0 0.010771 0 0 ALX3 257 broad.mit.edu 37 1 110603566 110603566 + Missense_Mutation SNP T G G TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr1:110603566T>G uc001dzb.3 - 3 909 c.821A>C c.(820-822)tAt>tCt p.Y274S NM_006492 NP_006483 O95076 ALX3_HUMAN Homo sapiens ALX homeobox 3 (ALX3), mRNA. 274 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1) 6 all_cancers(81;2.35e-05)|all_epithelial(167;7.69e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233) Lung(183;0.015)|all cancers(265;0.0706)|Epithelial(280;0.0758)|Colorectal(144;0.113)|LUSC - Lung squamous cell carcinoma(189;0.135) GGGGTGGGAATATGGAGACAT 0.642000 23 5 0 0 0.000602 0 0 ADAM7 8756 broad.mit.edu 37 8 24350600 24350600 + Missense_Mutation SNP C T T TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr8:24350600C>T uc003xeb.3 + 15 1813 c.1700C>T c.(1699-1701)tCc>tTc p.S567F ADAM7_uc003xec.3_Missense_Mutation_p.S339F NM_003817 NP_003808 Q9H2U9 ADAM7_HUMAN Homo sapiens ADAM metallopeptidase domain 7 (ADAM7), mRNA. 567 Cys-rich. proteolysis integral to membrane metalloendopeptidase activity|zinc ion binding NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15) 64 Prostate(55;0.0181) Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182) GGGGAGCTTTCCTCTCTCCTT 0.393000 63 19 0 0 0.012319 0 0 SART3 9733 broad.mit.edu 37 12 108919970 108919970 + Missense_Mutation SNP G A A TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr12:108919970G>A uc001tmz.1 - 15 2511 c.2276C>T c.(2275-2277)gCc>gTc p.A759V SART3_uc001tmy.1_Missense_Mutation_p.A285V|SART3_uc009zux.1_Missense_Mutation_p.A371V|SART3_uc010swx.1_Missense_Mutation_p.A723V|SART3_uc010swy.1_Missense_Mutation_p.A645V|SART3_uc010swz.1_3'UTR NM_014706 NP_055521 Q15020 SART3_HUMAN Homo sapiens squamous cell carcinoma antigen recognized by T cells 3 (SART3), mRNA. 759 RRM 1. RNA processing cytoplasm|nuclear speck RNA binding|nucleotide binding|protein binding NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|stomach(1) 25 TGCCTGAAGGGCTGATTTCTC 0.512000 Porokeratosis 91 29 0 0 0.007291 0 0 CNTN5 53942 broad.mit.edu 37 11 100141934 100141934 + Missense_Mutation SNP C T T TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr11:100141934C>T uc001pga.3 + 17 2779 c.2275C>T c.(2275-2277)Cca>Tca p.P759S CNTN5_uc001pfz.3_Missense_Mutation_p.P759S|CNTN5_uc021qpb.1_Missense_Mutation_p.P759S|CNTN5_uc021qpc.1_Missense_Mutation_p.P685S|CNTN5_uc010ruk.2_Missense_Mutation_p.P30S NM_014361 NP_055176 O94779 CNTN5_HUMAN Homo sapiens contactin 5 (CNTN5), transcript variant 1, mRNA. 759 Fibronectin type-III 1. 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) GACAGGAGATCCAAGCACCCC 0.463000 30 6 0 0 0.001168 0 0 SIGLEC1 6614 broad.mit.edu 37 20 3682122 3682122 + Silent SNP G A A TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr20:3682122G>A uc002wja.3 - 5 1395 c.1395C>T c.(1393-1395)ttC>ttT p.F465F SIGLEC1_uc002wiz.4_Silent_p.F465F NM_023068 NP_075556 Q9BZZ2 SN_HUMAN Homo sapiens sialic acid binding Ig-like lectin 1, sialoadhesin (SIGLEC1), mRNA. 465 Ig-like C2-type 4. cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response extracellular region|integral to membrane|plasma membrane sugar binding NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1) 70 AGGTACCACTGAAGCGTGGGC 0.602000 66 32 0 0 0.010818 0 0 CDKAL1 54901 broad.mit.edu 37 6 21065457 21065457 + Missense_Mutation SNP G A A TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr6:21065457G>A uc003ndd.2 + 11 1401 c.1234G>A c.(1234-1236)Gtg>Atg p.V412M CDKAL1_uc003nde.2_Missense_Mutation_p.V342M|CDKAL1_uc021ymk.1_Missense_Mutation_p.V412M|CDKAL1_uc003ndf.2_Missense_Mutation_p.V8M NM_017774 NP_060244 Q5VV42 CDKAL_HUMAN Homo sapiens CDK5 regulatory subunit associated protein 1-like 1 (CDKAL1), mRNA. 412 RNA modification integral to membrane 4 iron, 4 sulfur cluster binding|metal ion binding|transferase activity breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|stomach(1) 29 all_epithelial(95;0.0708)|Breast(50;0.131)|Ovarian(93;0.227) OV - Ovarian serous cystadenocarcinoma(7;0.0241)|all cancers(50;0.123)|Epithelial(50;0.248) TCCAGCACAAGTGGTAAGATC 0.393000 140 51 0 0 0.014410 0 0 TC2N 123036 broad.mit.edu 37 14 92251698 92251698 + Silent SNP G A A TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr14:92251698G>A uc001xzu.4 - 10 1361 c.1170C>T c.(1168-1170)ttC>ttT p.F390F TC2N_uc001xzt.4_Silent_p.F390F|TC2N_uc010auc.3_Silent_p.F326F|TC2N_uc001xzv.4_Silent_p.F390F NM_001128595 NP_689545 Q8N9U0 TAC2N_HUMAN Homo sapiens tandem C2 domains, nuclear (TC2N), transcript variant 2, mRNA. 390 C2. nucleus breast(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(5)|skin(1)|upper_aerodigestive_tract(2) 18 COAD - Colon adenocarcinoma(157;0.218) CCACCTTCACGAAAAAACCTA 0.323000 119 43 0 0 0.008740 0 0 CACNG5 27091 broad.mit.edu 37 17 64880639 64880639 + Missense_Mutation SNP C T T TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr17:64880639C>T uc010wqi.2 + 4 668 c.431C>T c.(430-432)tCt>tTt p.S144F CACNG5_uc010wqj.2_Missense_Mutation_p.S144F|CACNG5_uc021uby.1_Non-coding_Transcript NM_145811 NP_665810 Q9UF02 CCG5_HUMAN Homo sapiens calcium channel, voltage-dependent, gamma subunit 5 (CACNG5), mRNA. 144 regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|postsynaptic density|postsynaptic membrane voltage-gated calcium channel activity NS(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2) 24 BRCA - Breast invasive adenocarcinoma(6;1.61e-08) CCAGGCCTCTCTCTCGTGGTG 0.567000 56 18 0 0 0.008871 0 0 APBA2 321 broad.mit.edu 37 15 29346945 29346946 + Missense_Mutation DNP CC TT TT TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr15:29346945_29346946CC>TT uc001zck.3 + 2 1062_1063 c.858_859CC>TT c.(856-861)ctcctt>ctTTtt p.L287F APBA2_uc010azj.2_Missense_Mutation_p.L287F|APBA2_uc010uat.2_Missense_Mutation_p.L287F|APBA2_uc001zcl.3_Missense_Mutation_p.L287F|APBA2_uc010uas.1_Missense_Mutation_p.L287F NM_005503 NP_005494 Q99767 APBA2_HUMAN Homo sapiens amyloid beta (A4) precursor protein-binding, family A, member 2 (APBA2), transcript variant 1, mRNA. 287 nervous system development|protein transport protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1) 59 all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234) all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24) CGCTGAACCTCCTTCCCGAGGC 0.668000 32 11 0 0 0.004672 0 0 KIR2DL5B 553128 broad.mit.edu 37 GL000209.1 88526 88526 + Missense_Mutation SNP C T T TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chrGL000209.1:88526C>T uc002quk.1 + 2 341 c.286C>T c.(286-288)Cgg>Tgg p.R96W KIR2DL2_uc002qtt.2_Intron|KIR2DL2_uc002qty.3_Intron|KIR2DL2_uc021vdb.1_Intron|KIR2DL2_uc010yie.2_Intron NM_001018081 NP_001018091 Q8NHK4 Q8NHK4_HUMAN Homo sapiens killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 5B (KIR2DL5B), mRNA. 96 receptor activity CTACAGATGTCGGGGTTCACA 0.577000 37 12 0 0 0.001855 0 0 ASXL3 80816 broad.mit.edu 37 18 31320012 31320012 + Missense_Mutation SNP G A A TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr18:31320012G>A uc010dmg.1 + 10 2699 c.2644G>A c.(2644-2646)Gaa>Aaa p.E882K ASXL3_uc002kxq.2_Missense_Mutation_p.E589K NM_030632 NP_085135 Q9C0F0 ASXL3_HUMAN Homo sapiens additional sex combs like 3 (Drosophila) (ASXL3), mRNA. 882 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1) 43 TTCACCATTGGAATTATCTGT 0.373000 60 13 0 0 0.001855 0 0 KYNU 8942 broad.mit.edu 37 2 143715284 143715284 + Splice_Site SNP G A A TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr2:143715284G>A uc010fnm.3 + 8 798 c.582_splice c.e8+1 p.E194_splice KYNU_uc002tvk.3_Splice_Site_p.E194_splice|KYNU_uc002tvl.3_Splice_Site_p.E194_splice NM_001199241 NP_001186170 Q16719 KYNU_HUMAN Homo sapiens kynureninase (KYNU), transcript variant 3, mRNA. 194 NAD biosynthetic process|anthranilate metabolic process|quinolinate biosynthetic process|response to interferon-gamma|response to vitamin B6 cytosol|mitochondrion|soluble fraction kynureninase activity|protein homodimerization activity large_intestine(10)|liver(1)|lung(18)|prostate(3)|skin(4) 36 BRCA - Breast invasive adenocarcinoma(221;0.072) L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114) AGCCAAGAGAGGTATATGAGA 0.289000 22 5 0 0 0.001984 0 0 SECISBP2L 9728 broad.mit.edu 37 15 49327778 49327778 + Missense_Mutation SNP G A A TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr15:49327778G>A uc001zxe.2 - 2 545 c.281C>T c.(280-282)cCc>cTc p.P94L SECISBP2L_uc001zxd.2_Missense_Mutation_p.P94L|SECISBP2L_uc010bep.2_Intron|SECISBP2L_uc010beq.2_Missense_Mutation_p.P94L NM_001193489 NP_001180418 Q93073 SBP2L_HUMAN Homo sapiens SECIS binding protein 2-like (SECISBP2L), transcript variant 1, mRNA. 94 breast(1)|endometrium(5)|kidney(8)|large_intestine(12)|lung(11)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1) 46 AGATATAATGGGATAGGCAAA 0.413000 51 15 0 0 0.003163 0 0 OR4M1 441670 broad.mit.edu 37 14 20248811 20248811 + Silent SNP G A A TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr14:20248811G>A uc010tku.2 + 0 330 c.330G>A c.(328-330)tcG>tcA p.S110S NM_001005500 NP_001005500 Q8NGD0 OR4M1_HUMAN Homo sapiens olfactory receptor, family 4, subfamily M, member 1 (OR4M1), mRNA. 110 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.S110S(2)|p.S110L(1) NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2) 42 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) TTGGGGCTTCGGAGATGTTCT 0.483000 292 44 0 0 0.010771 0 0 DCAF13 25879 broad.mit.edu 37 8 104427556 104427556 + Missense_Mutation SNP C T T TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr8:104427556C>T uc003yln.3 + 0 615 c.338C>T c.(337-339)tCc>tTc p.S113F SLC25A32_uc003yll.3_5'Flank|SLC25A32_uc011lhr.2_5'Flank|DCAF13_uc003ylm.1_5'UTR NM_015420 NP_056235 Q9NV06 DCA13_HUMAN Homo sapiens DDB1 and CUL4 associated factor 13 (DCAF13), mRNA. 0 rRNA processing CUL4 RING ubiquitin ligase complex|nucleolus|ribonucleoprotein complex NS(1)|breast(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 25 GGCCGCCGCTCCGCGAGTCAC 0.637000 74 21 0 0 0.014323 0 0 TMEM125 128218 broad.mit.edu 37 1 43739005 43739005 + Silent SNP T C C TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr1:43739005T>C uc021omm.1 + 0 612 c.612T>C c.(610-612)tcT>tcC p.S204S EBNA1BP2_uc001cio.3_5'Flank|TMEM125_uc021oml.1_Silent_p.S204S|TMEM125_uc001cir.3_Silent_p.S204S NM_144626 NP_653227 Q96AQ2 TM125_HUMAN Homo sapiens transmembrane protein 125 (TMEM125), mRNA. 204 integral to membrane breast(1)|large_intestine(1)|lung(1) 3 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) GACAGTTGTCTGCTGGCCGGC 0.632000 24 8 0 0 0.003080 0 0 LILRA1 11024 broad.mit.edu 37 19 55106174 55106174 + Missense_Mutation SNP A C C TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr19:55106174A>C uc002qgh.1 + 3 297 c.115A>C c.(115-117)Atc>Ctc p.I39L LILRA1_uc010yfg.1_Intron|LILRA1_uc010yfh.2_Missense_Mutation_p.I39L NM_006863 NP_006854 O75019 LIRA1_HUMAN Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1 (LILRA1), mRNA. 39 Ig-like C2-type 1. cell surface receptor linked signaling pathway|defense response|regulation of immune response integral to membrane|plasma membrane antigen binding|transmembrane receptor activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1) 47 GBM - Glioblastoma multiforme(193;0.0348) AGGCTCTGTGATCACCCAGGG 0.547000 73 19 0 0 0.006122 0 0 ADAMTS6 11174 broad.mit.edu 37 5 64747359 64747359 + Missense_Mutation SNP C T T TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr5:64747359C>T uc003jtp.3 - 6 1830 c.1016G>A c.(1015-1017)gGa>gAa p.G339E ADAMTS6_uc003jto.3_Non-coding_Transcript|ADAMTS6_uc003jtq.3_Non-coding_Transcript|ADAMTS6_uc003jtr.1_5'UTR NM_197941 NP_922932 Q9UKP5 ATS6_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 6 (ADAMTS6), mRNA. 339 Peptidase M12B. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(3) 18 Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235) Lung(70;0.00942) AATGGTGTTTCCATCACTTTG 0.408000 21 16 0 0 0.004990 0 0 TGM4 7047 broad.mit.edu 37 3 44951734 44951734 + Missense_Mutation SNP C T T rs145555133 TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr3:44951734C>T uc003coc.4 + 10 1553 c.1480C>T c.(1480-1482)Ctt>Ttt p.L494F NM_003241 NP_003232 P49221 TGM4_HUMAN Homo sapiens transglutaminase 4 (prostate) (TGM4), mRNA. 494 peptide cross-linking|protein polyamination acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity p.L494R(1) NS(1)|breast(1)|endometrium(2)|large_intestine(9)|lung(21)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1) 38 BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686) L-Glutamine(DB00130) CACCGTGATTCTTAAAAGGAA 0.448000 77 30 0 0 0.013726 0 0 SMCR7 125170 broad.mit.edu 37 17 18167115 18167115 + Silent SNP C T T TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr17:18167115C>T uc010vxq.2 + 3 461 c.435C>T c.(433-435)ttC>ttT p.F145F SMCR7_uc002gsu.3_Nonsense_Mutation_p.R110*|SMCR7_uc002gst.3_Silent_p.F134F NM_148886 NP_631901 Q96C03 SMCR7_HUMAN Homo sapiens Smith-Magenis syndrome chromosome region, candidate 7 (SMCR7), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA. 134 integral to membrane protein binding breast(1)|central_nervous_system(1)|endometrium(3)|lung(4) 9 all_neural(463;0.228) TGCTGGCCTTCGAGCGGGACC 0.622000 53 12 0 0 0.013537 0 0 SNAP91 9892 broad.mit.edu 37 6 84375262 84375262 + Missense_Mutation SNP G A A TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr6:84375262G>A uc021zcf.1 - 1 199 c.169C>T c.(169-171)Cct>Tct p.P57S SNAP91_uc003pka.3_Missense_Mutation_p.P57S|SNAP91_uc011dze.2_Missense_Mutation_p.P57S|SNAP91_uc003pkc.3_Missense_Mutation_p.P57S|SNAP91_uc003pkd.3_Missense_Mutation_p.P57S|SNAP91_uc003pkb.3_Missense_Mutation_p.P22S|SNAP91_uc011dzf.1_Intron NM_014841 NP_055656 O60641 AP180_HUMAN Homo sapiens synaptosomal-associated protein, 91kDa homolog (mouse) (SNAP91), transcript variant 1, mRNA. 57 ENTH. 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) GCCATCTGAGGAATATTAACA 0.373000 79 23 0 0 0.014323 0 0 ITGA8 8516 broad.mit.edu 37 10 15714738 15714738 + Silent SNP G A A TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr10:15714738G>A uc001ioc.1 - 6 687 c.687C>T c.(685-687)atC>atT p.I229I ITGA8_uc010qcb.1_Silent_p.I229I NM_003638 NP_003629 P53708 ITA8_HUMAN Homo sapiens integrin, alpha 8 (ITGA8), mRNA. 229 cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development integrin complex receptor activity NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 96 CACTGGCAGTGATCACTTGTC 0.448000 37 9 0 0 0.004482 0 0 ZNF230 7773 broad.mit.edu 37 19 44515405 44515405 + Missense_Mutation SNP C T T TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr19:44515405C>T uc002oyb.1 + 4 1465 c.1214C>T c.(1213-1215)tCa>tTa p.S405L NM_006300 NP_006291 Q9UIE0 ZN230_HUMAN Homo sapiens zinc finger protein 230 (ZNF230), mRNA. 405 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(10)|skin(1)|stomach(3)|urinary_tract(2) 22 Prostate(69;0.0352) AGCCGGGCTTCAAGTATTTTG 0.433000 57 20 0 0 0.007413 0 0 AHNAK 79026 broad.mit.edu 37 11 62292211 62292211 + Silent SNP G A A TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr11:62292211G>A uc001ntl.3 - 4 9978 c.9678C>T c.(9676-9678)ctC>ctT p.L3226L AHNAK_uc001ntk.1_Intron NM_001620 NP_001611 Q09666 AHNK_HUMAN Homo sapiens AHNAK nucleoprotein (AHNAK), transcript variant 1, mRNA. 3226 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) CTTTAAGATTGAGGTCCAAAT 0.408000 71 42 0 0 0.006230 0 0 SIGLEC8 27181 broad.mit.edu 37 19 51960800 51960800 + Silent SNP C T T TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr19:51960800C>T uc002pwt.3 - 1 715 c.648G>A c.(646-648)caG>caA p.Q216Q SIGLEC8_uc010yda.2_Intron|SIGLEC8_uc002pwu.3_Non-coding_Transcript|SIGLEC8_uc010eox.2_Intron NM_014442 NP_055257 Q9NYZ4 SIGL8_HUMAN Homo sapiens sialic acid binding Ig-like lectin 8 (SIGLEC8), mRNA. 216 Ig-like C2-type 1. cell adhesion integral to membrane sugar binding|transmembrane receptor activity NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2) 50 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979) TGCCGTGGTCCTGGGGCTTTG 0.652000 47 12 0 0 0.010729 0 0 COL11A1 1301 broad.mit.edu 37 1 103405961 103405961 + Silent SNP C T T TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr1:103405961C>T uc001dum.3 - 42 3660 c.3342G>A c.(3340-3342)ggG>ggA p.G1114G COL11A1_uc001duk.3_Silent_p.G298G|COL11A1_uc001dul.3_Silent_p.G1102G|COL11A1_uc001dun.3_Silent_p.G1063G|COL11A1_uc009weh.3_Silent_p.G986G NM_080629 NP_542196 P12107 COBA1_HUMAN Homo sapiens collagen, type XI, alpha 1 (COL11A1), transcript variant B, mRNA. 1102 Triple-helical region. Missing (in STL2). 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 p.G1114E(1) 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) CTCCATCTCTCCCTGCAGGCC 0.478000 63 19 0 0 0.008871 0 0 RIPK1 8737 broad.mit.edu 37 6 3083487 3083487 + Missense_Mutation SNP G A A TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr6:3083487G>A uc010jni.3 + 4 860 c.628G>A c.(628-630)Gat>Aat p.D210N RIPK1_uc003muv.4_Missense_Mutation_p.D47N|RIPK1_uc003mux.3_Missense_Mutation_p.D210N|RIPK1_uc011dhs.2_Missense_Mutation_p.D164N NM_003804 NP_003795 Q13546 RIPK1_HUMAN Homo sapiens receptor (TNFRSF)-interacting serine-threonine kinase 1 (RIPK1), mRNA. 210 Protein kinase. MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|activation of JUN kinase activity|activation of caspase activity|activation of pro-apoptotic gene products|induction of apoptosis by extracellular signals|induction of necroptosis by extracellular signals|innate immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of anti-apoptosis|positive regulation of interleukin-8 production|positive regulation of reactive oxygen species metabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|protein autophosphorylation|regulation of ATP:ADP antiporter activity|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|death-inducing signaling complex|endosome membrane|mitochondrion|receptor complex ATP binding|death domain binding|death receptor binding|protein serine/threonine kinase activity breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 23 Ovarian(93;0.0386) all_hematologic(90;0.0895) AGAGAAGTCGGATGTGTACAG 0.517000 54 14 0 0 0.001855 0 0 COL8A2 1296 broad.mit.edu 37 1 36564573 36564573 + Missense_Mutation SNP C T T TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr1:36564573C>T uc001bzv.2 - 1 716 c.709G>A c.(709-711)Ggc>Agc p.G237S COL8A2_uc001bzw.2_Missense_Mutation_p.G172S NM_005202 NP_005193 P25067 CO8A2_HUMAN Homo sapiens collagen, type VIII, alpha 2 (COL8A2), mRNA. 237 Triple-helical region. angiogenesis|cell-cell adhesion|extracellular matrix organization basement membrane|collagen extracellular matrix structural constituent|protein binding, bridging NS(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 17 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) CCAGGTTTGCCTAAGCCAGCT 0.716000 27 13 0 0 0.001855 0 0 SPDYE7P 441251 broad.mit.edu 37 7 72335030 72335030 + RNA SNP C T T TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr7:72335030C>T uc010lal.1 - 0 c.4626G>A Homo sapiens speedy homolog E7 (Xenopus laevis), pseudogene (SPDYE7P), non-coding RNA. CCACGCCTTCCTCAGGAGGGC 0.607000 7 6 0 0 0.001168 0 0 PENK 5179 broad.mit.edu 37 8 57354230 57354230 + Silent SNP C T T TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr8:57354230C>T uc003xsz.2 - 1 486 c.405G>A c.(403-405)cgG>cgA p.R135R PENK_uc003xta.3_Silent_p.R135R NM_006211 NP_006202 P01210 PENK_HUMAN Homo sapiens proenkephalin (PENK), transcript variant 2, mRNA. 135 neuropeptide signaling pathway extracellular region neuropeptide hormone activity|opioid peptide activity central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(2) 21 all_lung(136;0.229) Epithelial(17;0.000873)|all cancers(17;0.0069) AGCCCCCATACCGCTTGGCGA 0.512000 86 23 0 0 0.004656 0 0 PCDHGC5 56097 broad.mit.edu 37 5 140744365 140744365 + Silent SNP C T T TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr5:140744365C>T uc003lju.2 + 0 468 c.468C>T c.(466-468)ttC>ttT p.F156F PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc011das.2_Silent_p.F156F NM_018918 NP_061741 Q9Y5F6 PCDGM_HUMAN Homo sapiens protocadherin gamma subfamily A, 5 (PCDHGA5), transcript variant 1, mRNA. 156 Cadherin 2. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2) 35 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGCTTCCCTTCGCGCGGGATG 0.483000 23 16 0 0 0.004007 0 0 JPH1 56704 broad.mit.edu 37 8 75227537 75227537 + Missense_Mutation SNP G A A rs142292285 byFrequency TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr8:75227537G>A uc003yae.3 - 1 738 c.698C>T c.(697-699)tCg>tTg p.S233L JPH1_uc003yaf.3_Missense_Mutation_p.S233L|JPH1_uc003yag.1_Missense_Mutation_p.S97L NM_020647 NP_065698 Q9HDC5 JPH1_HUMAN Homo sapiens junctophilin 1 (JPH1), mRNA. 233 Ser-rich. calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity integral to membrane|junctional membrane complex|junctional sarcoplasmic reticulum membrane|plasma membrane endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(2) 24 Breast(64;0.00576) BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176) GCGCTTGCTCGAGATGGAAGA 0.557000 103 20 0 0 0.008871 0 0 ANKRD30A 91074 broad.mit.edu 37 10 37508264 37508264 + Silent SNP C T T TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr10:37508264C>T uc021ppc.1 + 33 3555 c.3456C>T c.(3454-3456)gaC>gaT p.D1152D ANKRD30A_uc001iza.1_Silent_p.D1152D NM_052997 NP_443723 Q9BXX3 AN30A_HUMAN Homo sapiens ankyrin repeat domain 30A (ANKRD30A), mRNA. 1208 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 CTGTACAAGACCATGATCAAA 0.373000 35 15 0 0 0.002450 0 0 BCL11B 64919 broad.mit.edu 37 14 99640620 99640620 + Silent SNP C T T TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr14:99640620C>T uc001yga.3 - 3 2820 c.2553G>A c.(2551-2553)aaG>aaA p.K851K BCL11B_uc001ygb.3_Silent_p.K780K NM_138576 NP_612808 Q9C0K0 BC11B_HUMAN Homo sapiens B-cell CLL/lymphoma 11B (zinc finger protein) (BCL11B), transcript variant 1, mRNA. 851 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) GGTACACCTCCTTGCCGATCT 0.602000 T TLX3 T-ALL 27 13 0 0 0.001855 0 0 COL6A3 1293 broad.mit.edu 37 2 238249666 238249666 + Silent SNP G A A TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr2:238249666G>A uc002vwl.2 - 37 8178 c.7893C>T c.(7891-7893)acC>acT p.T2631T COL6A3_uc002vwo.2_Silent_p.T2425T|COL6A3_uc010znj.1_Silent_p.T2024T|COL6A3_uc002vwj.2_Silent_p.T12T NM_004369 NP_004360 P12111 CO6A3_HUMAN Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA. 2631 Nonhelical region.|VWFA 12. axon guidance|cell adhesion|muscle organ development collagen type VI|extracellular space serine-type endopeptidase inhibitor activity breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4) 217 Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203) Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034) ACTGGAACAGGGTGGTGGTCT 0.552000 115 44 0 0 0.010771 0 0 OR6F1 343169 broad.mit.edu 37 1 247875470 247875470 + Silent SNP C T T TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr1:247875470C>T uc001idj.1 - 0 588 c.588G>A c.(586-588)gaG>gaA p.E196E NM_001005286 NP_001005286 Q8NGZ6 OR6F1_HUMAN Homo sapiens olfactory receptor, family 6, subfamily F, member 1 (OR6F1), mRNA. 196 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2) 47 all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) OV - Ovarian serous cystadenocarcinoma(106;0.0168) AGGCCACAAGCTCTACTGCCT 0.532000 82 70 0 0 0.014410 0 0 EMR1 2015 broad.mit.edu 37 19 6937272 6937272 + Silent SNP C T T TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr19:6937272C>T uc002mfw.3 + 18 2438 c.2400C>T c.(2398-2400)gcC>gcT p.A800A EMR1_uc010dvc.3_Silent_p.A735A|EMR1_uc010dvb.3_Silent_p.A781A|EMR1_uc010xji.2_Silent_p.A659A|EMR1_uc010xjj.2_Silent_p.A623A NM_001974 NP_001965 Q14246 EMR1_HUMAN Homo sapiens egf-like module containing, mucin-like, hormone receptor-like 1 (EMR1), transcript variant 1, mRNA. 800 cell adhesion|neuropeptide signaling pathway integral to plasma membrane G-protein coupled receptor activity|calcium ion binding NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8) 62 all_hematologic(4;0.166) CCTTCAAGGCCTTTGCCCAGC 0.537000 95 31 0 0 0.003271 0 0 SH2D5 400745 broad.mit.edu 37 1 21050224 21050225 + Missense_Mutation DNP GG AA AA TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr1:21050224_21050225GG>AA uc009vpy.1 - 7 1304_1305 c.802_803CC>TT c.(802-804)cct>TTt p.P268F SH2D5_uc001bdt.1_Missense_Mutation_p.P184F|SH2D5_uc001bdu.1_Non-coding_Transcript NM_001103161 NP_001096630 Q6ZV89 SH2D5_HUMAN Homo sapiens SH2 domain containing 5 (SH2D5), transcript variant 1, mRNA. 184 SH2. lung(4)|prostate(1)|upper_aerodigestive_tract(1) 6 Colorectal(325;3.46e-05)|all_lung(284;5.32e-05)|Lung NSC(340;5.51e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.17e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000142)|GBM - Glioblastoma multiforme(114;0.000465)|Kidney(64;0.000476)|STAD - Stomach adenocarcinoma(196;0.00303)|KIRC - Kidney renal clear cell carcinoma(64;0.00634)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199) CCATGCGGCAGGAACTGTGGAG 0.673000 28 10 0 0 0.004672 0 0 ANKRD30A 91074 broad.mit.edu 37 10 37430723 37430723 + Missense_Mutation SNP G A A TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr10:37430723G>A uc021ppc.1 + 6 829 c.730G>A c.(730-732)Gaa>Aaa p.E244K ANKRD30A_uc001iza.1_Missense_Mutation_p.E244K NM_052997 NP_443723 Q9BXX3 AN30A_HUMAN Homo sapiens ankyrin repeat domain 30A (ANKRD30A), mRNA. 300 nucleus DNA binding|sequence-specific DNA binding transcription factor activity p.E244K(2)|p.E244G(1) 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 AAGCTTGGTGGAAAAAACACC 0.507000 21 17 0 0 0.004007 0 0 CCDC27 148870 broad.mit.edu 37 1 3673309 3673309 + Missense_Mutation SNP C T T TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr1:3673309C>T uc001akv.2 + 3 647 c.566C>T c.(565-567)cCc>cTc p.P189L NM_152492 NP_689705 Q2M243 CCD27_HUMAN Homo sapiens coiled-coil domain containing 27 (CCDC27), mRNA. 189 breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(2)|lung(17)|prostate(1)|skin(2)|urinary_tract(2) 36 all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218) all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127) Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203) TACCTCCTTCCCTTCAGTAAG 0.567000 89 29 0 0 0.013726 0 0 SYNE1 23345 broad.mit.edu 37 6 152716712 152716712 + Missense_Mutation SNP G A A TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr6:152716712G>A uc021zhb.1 - 48 7874 c.7651C>T c.(7651-7653)Cct>Tct p.P2551S SYNE1_uc003qot.4_Missense_Mutation_p.P2558S|SYNE1_uc003qou.4_Missense_Mutation_p.P2551S|SYNE1_uc010kjb.1_Missense_Mutation_p.P2534S NM_182961 NP_892006 Q8NF91 SYNE1_HUMAN Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA. 2551 Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere actin binding|lamin binding NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) TTCTTCTCAGGAATGTGCTGT 0.403000 HNSCC(10;0.0054) 67 22 0 0 0.010504 0 0 RINT1 60561 broad.mit.edu 37 7 105205983 105205983 + Missense_Mutation SNP C T T TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr7:105205983C>T uc003vda.1 + 13 2305 c.2074C>T c.(2074-2076)Ctt>Ttt p.L692F RINT1_uc010ljj.1_Missense_Mutation_p.L267F|EFCAB10_uc003vdb.3_Intron|BC007100_uc003vdd.1_5'Flank NM_021930 NP_068749 Q6NUQ1 RINT1_HUMAN Homo sapiens RAD50 interactor 1 (RINT1), mRNA. 692 RINT1/TIP20. G2/M transition DNA damage checkpoint|cell cycle|protein transport|vesicle-mediated transport endoplasmic reticulum membrane protein binding central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 22 TCAGATAATTCTTGCTAATCA 0.358000 34 5 0 0 0.000602 0 0 CNGA2 1260 broad.mit.edu 37 X 150912780 150912780 + Missense_Mutation SNP G A A TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chrX:150912780G>A uc004fey.1 + 6 2029 c.1805G>A c.(1804-1806)gGg>gAg p.G602E NM_005140 NP_005131 Q16280 CNGA2_HUMAN Homo sapiens cyclic nucleotide gated channel alpha 2 (CNGA2), mRNA. 602 response to stimulus|sensory perception of smell intracellular cyclic nucleotide activated cation channel complex cAMP binding|intracellular cAMP activated cation channel activity breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2) 49 Acute lymphoblastic leukemia(192;6.56e-05) GAGAAGCTAGGGCAGCTGGAG 0.582000 37 36 0 0 0.003755 0 0 DNAH7 56171 broad.mit.edu 37 2 196729430 196729430 + Nonsense_Mutation SNP G A A rs115474479 by1000genomes TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr2:196729430G>A uc002utj.4 - 40 7050 c.6949C>T c.(6949-6951)Cga>Tga p.R2317* NM_018897 NP_061720 Q8WXX0 DYH7_HUMAN Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA. 2317 AAA 4 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity p.R2317*(2) 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 ATGGCAAATCGAAACAAGACA 0.443000 61 17 0 0 0.004007 0 0 KIAA1804 84451 broad.mit.edu 37 1 233514709 233514709 + Missense_Mutation SNP G A A TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr1:233514709G>A uc001hvt.4 + 8 2218 c.1957G>A c.(1957-1959)Gga>Aga p.G653R KIAA1804_uc001hvu.4_Missense_Mutation_p.G99R NM_032435 NP_115811 Q5TCX8 M3KL4_HUMAN Homo sapiens mixed lineage kinase 4 (KIAA1804), mRNA. 653 activation of JUN kinase activity|protein autophosphorylation ATP binding|MAP kinase kinase kinase activity|protein homodimerization activity NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|large_intestine(18)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(4) 52 all_cancers(173;0.000405)|all_epithelial(177;0.0345)|Prostate(94;0.122) TTCCCCTGATGGATTAGAACA 0.378000 46 31 0 0 0.003755 0 0 LACE1 246269 broad.mit.edu 37 6 108687531 108687531 + Missense_Mutation SNP C A A TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr6:108687531C>A uc003psj.3 + 5 929 c.743C>A c.(742-744)cCg>cAg p.P248Q NM_145315 NP_660358 Q8WV93 LACE1_HUMAN Homo sapiens lactation elevated 1 (LACE1), mRNA. 248 ATP binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1) 15 all_cancers(87;1.5e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;6.79e-05)|Colorectal(196;0.0294)|all_lung(197;0.0486)|Lung SC(18;0.152) BRCA - Breast invasive adenocarcinoma(108;0.00179)|Epithelial(106;0.0024)|all cancers(137;0.00379)|OV - Ovarian serous cystadenocarcinoma(136;0.0118) AACAGGCCACCGGAAGGTAAA 0.373000 34 3 0.004672 0.0049098 0.004672 1 0 CACNA1B 774 broad.mit.edu 37 9 140953128 140953128 + Silent SNP C T T TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr9:140953128C>T uc004cog.3 + 28 4561 c.4416C>T c.(4414-4416)ccC>ccT p.P1472P CACNA1B_uc022bqn.1_Silent_p.P1472P|CACNA1B_uc011mfd.2_Silent_p.P1073P|CACNA1B_uc004coi.3_Silent_p.P686P NM_000718 NP_000709 Q00975 CAC1B_HUMAN Homo sapiens calcium channel, voltage-dependent, N type, alpha 1B subunit (CACNA1B), transcript variant 1, mRNA. 1472 membrane depolarization|synaptic transmission voltage-gated calcium channel complex ATP binding|protein C-terminus binding|voltage-gated calcium channel activity NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2) 80 all_cancers(76;0.166) OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476) Amlodipine(DB00381)|Gabapentin(DB00996) TCTCCCCGCCCTTTGAATACT 0.567000 10 5 0 0 0.000602 0 0 CCDC108 255101 broad.mit.edu 37 2 219894256 219894256 + Missense_Mutation SNP C T T TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr2:219894256C>T uc002vjl.1 - 10 1603 c.1519G>A c.(1519-1521)Gag>Aag p.E507K CCDC108_uc010fwa.1_5'UTR|CCDC108_uc010zkp.1_Missense_Mutation_p.E496K|CCDC108_uc010zkq.1_Missense_Mutation_p.E442K NM_194302 NP_919278 Q6ZU64 CC108_HUMAN Homo sapiens coiled-coil domain containing 108 (CCDC108), transcript variant 1, mRNA. 507 integral to membrane structural molecule activity autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 80 Renal(207;0.0915) Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) AAGACACTCTCCAAGCAGTCG 0.597000 OREG0015211 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 58 16 0 0 0.006122 0 0 HOXB1 3211 broad.mit.edu 37 17 46607154 46607154 + Missense_Mutation SNP C T T TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr17:46607154C>T uc002ink.1 - 1 667 c.661G>A c.(661-663)Gag>Aag p.E221K HOXB1_uc021tzf.1_3'UTR NM_002144 NP_002135 P14653 HXB1_HUMAN Homo sapiens homeobox B1 (HOXB1), mRNA. 221 nucleus protein domain specific binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 30 AAATGGAACTCCTTTTCCAGT 0.602000 169 58 0 0 0.014410 0 0 CLCNKA 1187 broad.mit.edu 37 1 16381937 16381937 + Silent SNP G A A TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr1:16381937G>A uc001axx.4 + 16 1900 c.1764G>A c.(1762-1764)caG>caA p.Q588Q CLCNKA_uc021ogm.1_Silent_p.Q419Q|CLCNKA_uc001axy.4_Silent_p.Q419Q NM_000085 NP_000076 P51800 CLCKA_HUMAN Homo sapiens chloride channel Kb (CLCNKB), transcript variant 1, mRNA. 588 CBS 1. excretion chloride channel complex|integral to plasma membrane voltage-gated chloride channel activity breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1) 19 Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649) Niflumic Acid(DB04552) CAGAGTCCCAGATCCTGGTGG 0.587000 28 13 0 0 0.004007 0 0 THRSP 7069 broad.mit.edu 37 11 77775335 77775335 + Silent SNP G A A TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr11:77775335G>A uc021qnu.1 + 0 408 c.408G>A c.(406-408)agG>agA p.R136R NDUFC2-KCTD14_uc021qnr.1_Intron|NDUFC2-KCTD14_uc021qns.1_Intron|NDUFC2-KCTD14_uc021qnt.1_Intron|THRSP_uc001oyx.3_Silent_p.R136R NM_003251 NP_003242 Q92748 THRSP_HUMAN Homo sapiens thyroid hormone responsive (THRSP), mRNA. 136 lipid biosynthetic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nucleus breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2) 7 all_cancers(14;2.23e-19)|all_epithelial(13;7.49e-22)|Breast(9;6.38e-17)|Ovarian(111;0.152) OV - Ovarian serous cystadenocarcinoma(8;2.15e-25) AGGTGACAAGGAAATACCAGG 0.542000 18 12 0 0 0.013537 0 0 OR13H1 347468 broad.mit.edu 37 X 130678461 130678461 + Silent SNP C T T TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chrX:130678461C>T uc011muw.2 + 0 414 c.414C>T c.(412-414)ggC>ggT p.G138G IGSF1_uc004ewf.2_Intron NM_001004486 NP_001004486 Q8NG92 O13H1_HUMAN Homo sapiens olfactory receptor, family 13, subfamily H, member 1 (OR13H1), mRNA. 138 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|large_intestine(3)|lung(7)|prostate(1)|skin(1) 15 Acute lymphoblastic leukemia(192;0.000636) TTATGAATGGCCCAGTATGTG 0.537000 64 54 0 0 0.014410 0 0 SMPD1 6609 broad.mit.edu 37 11 6413100 6413100 + Missense_Mutation SNP G C C TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr11:6413100G>C uc001mcw.3 + 1 990 c.805G>C c.(805-807)Gcc>Ccc p.A269P SMPD1_uc021qcz.1_Missense_Mutation_p.A269P|SMPD1_uc001mcv.2_Intron|SMPD1_uc009yew.3_Missense_Mutation_p.A268P|SMPD1_uc021qda.1_Non-coding_Transcript|SMPD1_uc009yex.3_Non-coding_Transcript NM_000543 NP_000534 P17405 ASM_HUMAN Homo sapiens sphingomyelin phosphodiesterase 1, acid lysosomal (SMPD1), transcript variant 1, mRNA. 267 cell death|ceramide biosynthetic process|negative regulation of MAP kinase activity|nervous system development|positive regulation of protein dephosphorylation|signal transduction|sphingomyelin catabolic process|termination of signal transduction lysosome hydrolase activity, acting on glycosyl bonds|sphingomyelin phosphodiesterase activity breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(3) 23 Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029) Epithelial(150;4.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189) Desipramine(DB01151) GCTGGGCCCAGCCGGCCCTTT 0.642000 134 36 0 0 0.004289 0 0 ST3GAL1 6482 broad.mit.edu 37 8 134488026 134488026 + Missense_Mutation SNP G A A TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr8:134488026G>A uc003yuk.2 - 4 1071 c.242C>T c.(241-243)aCc>aTc p.T81I ST3GAL1_uc003yum.2_Missense_Mutation_p.T81I NM_173344 NP_775479 Q11201 SIA4A_HUMAN Homo sapiens ST3 beta-galactoside alpha-2,3-sialyltransferase 1 (ST3GAL1), transcript variant 2, mRNA. 81 protein glycosylation Golgi cisterna membrane|extracellular region|integral to Golgi membrane beta-galactoside alpha-2,3-sialyltransferase activity endometrium(3)|large_intestine(2)|lung(11)|prostate(1) 17 all_epithelial(106;1.53e-23)|Lung NSC(106;3.15e-07)|all_lung(105;1.26e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.00721) CGGCTGCATGGTCTGGTTGAA 0.617000 33 9 0 0 0.004482 0 0 BTBD7 55727 broad.mit.edu 37 14 93723590 93723590 + Missense_Mutation SNP A G G TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr14:93723590A>G uc001ybo.3 - 5 1885 c.1559T>C c.(1558-1560)gTg>gCg p.V520A BTBD7_uc010aur.3_Missense_Mutation_p.V45A|BTBD7_uc010two.2_Missense_Mutation_p.V340A|BTBD7_uc001ybp.3_Missense_Mutation_p.V169A|BTBD7_uc001ybq.4_Missense_Mutation_p.V435A NM_001002860 NP_001002860 Q9P203 BTBD7_HUMAN Homo sapiens BTB (POZ) domain containing 7 (BTBD7), transcript variant 1, mRNA. 520 breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1) 35 all_cancers(154;0.08) Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223) TTCAATTCGCACAAAAGGTAA 0.413000 71 23 0 0 0.003330 0 0 SLCO5A1 81796 broad.mit.edu 37 8 70667701 70667701 + Missense_Mutation SNP C T T TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr8:70667701C>T uc003xyl.3 - 3 1923 c.1216G>A c.(1216-1218)Gac>Aac p.D406N SLCO5A1_uc010lzb.3_Missense_Mutation_p.D406N|SLCO5A1_uc011lfa.2_Intron|SLCO5A1_uc003xyk.3_Missense_Mutation_p.D406N|SLCO5A1_uc010lzc.2_Missense_Mutation_p.D406N NM_030958 NP_112220 Q9H2Y9 SO5A1_HUMAN Homo sapiens solute carrier organic anion transporter family, member 5A1 (SLCO5A1), transcript variant 1, mRNA. 406 integral to membrane|plasma membrane transporter activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 53 Breast(64;0.0654) Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594) ACTTTTTTGTCCGCTTGTTCA 0.373000 31 3 0 0 0.009096 0 0 MAFA 389692 broad.mit.edu 37 8 144511954 144511956 + In_Frame_Del DEL TGG - - TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr8:144511954_144511956delTGG uc003yyc.2 - 0 647_649 c.621_623delCCA c.(619-624)caccat>cat p.207_208HH>H NM_201589 NP_963883 Q8NHW3 MAFA_HUMAN Homo sapiens v-maf musculoaponeurotic fibrosarcoma oncogene homolog A (avian) (MAFA), mRNA. 207 His-rich. insulin secretion|nitric oxide mediated signal transduction|response to glucose stimulus nucleus protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.H208delH(6) breast(1)|lung(1)|upper_aerodigestive_tract(2) 4 all_cancers(97;7.39e-11)|all_epithelial(106;5.44e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155) Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.237) CGCGCCGCCAtggtggtggtggt 0.744 HNSCC(29;0.082) --- 5 --- --- 4 --- PLEKHA1 59338 broad.mit.edu 37 10 124152792 124152792 + Frame_Shift_Del DEL C - - TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr10:124152792delC uc001lge.2 + 1 325 c.76delC c.(76-78)cttfs p.L26fs PLEKHA1_uc001lgf.2_Frame_Shift_Del_p.L26fs|PLEKHA1_uc001lgg.2_Frame_Shift_Del_p.L26fs NM_001001974 NP_067635 Q9HB21 PKHA1_HUMAN Homo sapiens pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 1 (PLEKHA1), transcript variant 2, mRNA. 26 PH 1. B cell receptor signaling pathway|cellular response to hydrogen peroxide|establishment of protein localization|negative regulation of protein kinase B signaling cascade|phosphatidylinositol 3-kinase cascade|ruffle organization cytoplasm|nucleus|ruffle membrane PDZ domain binding|phosphatidylinositol-3,4-bisphosphate binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1) 13 all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238) TGGGAAATTTCTTCGAAGGTA 0.368 --- 29 --- --- 15 ---