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 ACSL1 2180 broad.mit.edu 37 4 185691476 185691476 + Missense_Mutation SNP G A A TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr4:185691476G>A uc003iww.2 - 10 1220 c.926C>T c.(925-927)cCc>cTc p.P309L ACSL1_uc011ckm.1_Intron|ACSL1_uc003iwt.1_Intron|ACSL1_uc003iwu.1_Intron|ACSL1_uc011ckn.1_Intron|ACSL1_uc010ise.1_Intron NM_001995 NP_001986 P33121 ACSL1_HUMAN Homo sapiens acyl-CoA synthetase long-chain family member 1 (ACSL1), mRNA. 309 digestion|fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|regulation of fatty acid oxidation|triglyceride biosynthetic process endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane ATP binding|long-chain fatty acid-CoA ligase activity NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(17)|ovary(2)|prostate(1)|skin(2) 38 all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00172)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0315)|all_neural(102;0.107)|Medulloblastoma(177;0.146) all cancers(43;1.33e-28)|Epithelial(43;5.3e-25)|OV - Ovarian serous cystadenocarcinoma(60;4.88e-11)|Colorectal(24;3.59e-06)|STAD - Stomach adenocarcinoma(60;2.72e-05)|GBM - Glioblastoma multiforme(59;2.83e-05)|BRCA - Breast invasive adenocarcinoma(30;7.66e-05)|COAD - Colon adenocarcinoma(29;0.000538)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.0419) Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171) GGCACTCAAGGGAAGTGCTTT 0.393000 11 8 0 0 1 0 0 AKR1C3 8644 broad.mit.edu 37 10 5147813 5147813 + Missense_Mutation SNP G C C TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr10:5147813G>C uc001ihr.3 + 7 1056 c.873G>C c.(871-873)gaG>gaC p.E291D AKR1C3_uc021pml.1_Missense_Mutation_p.E291D|AKR1C3_uc010qap.2_Missense_Mutation_p.E268D|AKR1C3_uc001ihu.3_Missense_Mutation_p.E291D NM_003739 NP_003730 P42330 AK1C3_HUMAN Homo sapiens aldo-keto reductase family 1, member C3 (3-alpha hydroxysteroid dehydrogenase, type II) (AKR1C3), transcript variant 1, mRNA. 291 prostaglandin metabolic process cytoplasm aldo-keto reductase (NADP) activity|androsterone dehydrogenase (A-specific) activity|indanol dehydrogenase activity|prostaglandin-F synthase activity|testosterone 17-beta-dehydrogenase (NAD+) activity|testosterone 17-beta-dehydrogenase (NADP+) activity|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|skin(1) 14 Dimethyl sulfoxide(DB01093)|NADH(DB00157) TGACTGCAGAGGACATGAAAG 0.348000 8 7 0 0 1 0 0 PCLO 27445 broad.mit.edu 37 7 82585473 82585473 + Missense_Mutation SNP C T T TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr7:82585473C>T uc003uhx.2 - 4 5085 c.4796G>A c.(4795-4797)gGa>gAa p.G1599E PCLO_uc003uhv.2_Missense_Mutation_p.G1599E NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA. 1530 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 TTTGCCTTTTCCCTTTGTTTC 0.428000 80 65 0 0 1 0 0 CTPS2 56474 broad.mit.edu 37 X 16711336 16711337 + Missense_Mutation DNP GG AA AA TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chrX:16711336_16711337GG>AA uc004cxk.3 - 5 1310_1311 c.566_567CC>TT c.(565-567)acc>aTT p.T189I CTPS2_uc004cxl.3_Missense_Mutation_p.T189I|CTPS2_uc004cxm.3_Missense_Mutation_p.T189I NM_001144002 NP_787055 Q9NRF8 PYRG2_HUMAN Homo sapiens CTP synthase II (CTPS2), transcript variant 3, mRNA. 189 glutamine metabolic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine nucleotide biosynthetic process cytosol ATP binding|CTP synthase activity breast(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 19 Hepatocellular(33;0.0997) TTTGTTCTCCGGTAGCACTGAG 0.500000 4 52 0 0 1 0 0 CSNK1E 1454 broad.mit.edu 37 22 38696915 38696915 + Missense_Mutation SNP G A A TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr22:38696915G>A uc003avj.3 - 4 640 c.379C>T c.(379-381)Cgg>Tgg p.R127W CSNK1E_uc003avk.3_Missense_Mutation_p.R127W|CSNK1E_uc003avm.2_Missense_Mutation_p.R127W NM_152221 NP_689407 P49674 KC1E_HUMAN Homo sapiens casein kinase 1, epsilon (CSNK1E), transcript variant 1, mRNA. 127 Protein kinase. DNA repair|G2/M transition of mitotic cell cycle|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|signal transduction cytosol|nucleus ATP binding|protein binding|protein serine/threonine kinase activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 22 Melanoma(58;0.045) TTGACGTCCCGGTGGATGAAG 0.602000 12 103 0 0 1 0 0 AKAP9 10142 broad.mit.edu 37 7 91632203 91632203 + Missense_Mutation SNP C T T TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr7:91632203C>T uc003ulg.3 + 7 3197 c.2972C>T c.(2971-2973)tCa>tTa p.S991L AKAP9_uc003ule.2_Missense_Mutation_p.S1003L|AKAP9_uc003ulf.3_Missense_Mutation_p.S991L|AKAP9_uc003uli.3_Missense_Mutation_p.S616L NM_005751 NP_005742 Q99996 AKAP9_HUMAN Homo sapiens A kinase (PRKA) anchor protein (yotiao) 9 (AKAP9), transcript variant 2, mRNA. 1003 Glu-rich. G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport Golgi apparatus|centrosome|cytosol receptor binding NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2) 155 all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249) STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) GAACAAGTTTCATTGAGATGT 0.333000 T BRAF papillary thyroid 47 37 0 0 1 0 0 SERPINH1 871 broad.mit.edu 37 11 75279845 75279845 + Missense_Mutation SNP C T T TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr11:75279845C>T uc001owr.3 + 2 990 c.692C>T c.(691-693)aCc>aTc p.T231I SERPINH1_uc009yuf.3_Missense_Mutation_p.T231I|SERPINH1_uc009yug.3_Missense_Mutation_p.T231I|SERPINH1_uc001ows.3_Missense_Mutation_p.T231I|SERPINH1_uc001owt.3_Missense_Mutation_p.T14I NM_001235 NP_001226 P50454 SERPH_HUMAN Homo sapiens serpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1) (SERPINH1), transcript variant 2, mRNA. 231 regulation of proteolysis|response to unfolded protein ER-Golgi intermediate compartment|endoplasmic reticulum lumen collagen binding|serine-type endopeptidase inhibitor activity p.T231T(1) endometrium(4)|large_intestine(3)|liver(1)|lung(4)|ovary(2)|stomach(1) 15 Ovarian(111;0.11) CGGTCCTATACCGTGGGTGTC 0.567000 63 49 0 0 1 0 0 LNX1 84708 broad.mit.edu 37 4 54343060 54343060 + Silent SNP C G G TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr4:54343060C>G uc003hag.4 - 8 2008 c.1752G>C c.(1750-1752)tcG>tcC p.S584S PDGFRA_uc003haa.3_Intron|LNX1_uc003haf.4_Silent_p.S488S|LNX1_uc003hah.4_Non-coding_Transcript NM_001126328 NP_001119800 Q8TBB1 LNX1_HUMAN Homo sapiens ligand of numb-protein X 1 (LNX1), transcript variant 1, mRNA. 584 PDZ 3. cytoplasm zinc ion binding p.S488S(1)|p.S584S(1) autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|endometrium(3)|large_intestine(11)|lung(6)|ovary(3)|urinary_tract(4) 32 all_neural(26;0.153) GBM - Glioblastoma multiforme(3;8.2e-46)|LUSC - Lung squamous cell carcinoma(32;0.0134) TGAGTACTATCGAGGATGATG 0.522000 118 115 0 0 1 0 0 C17orf51 339263 broad.mit.edu 37 17 21476991 21476991 + RNA SNP C T T TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr17:21476991C>T uc002gyx.1 - 1 c.237G>A A8MQB3 CQ051_HUMAN Homo sapiens chromosome 17 open reading frame 51 (C17orf51), mRNA. endometrium(1) 1 GAGTGTGGTCCTCTTGATCCT 0.577000 6 5 0 0 1 0 0 PCLO 27445 broad.mit.edu 37 7 82544604 82544604 + Missense_Mutation SNP C T T TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr7:82544604C>T uc003uhx.2 - 6 12987 c.12698G>A c.(12697-12699)aGg>aAg p.R4233K PCLO_uc003uhv.2_Missense_Mutation_p.R4233K|PCLO_uc010lec.3_Missense_Mutation_p.R1198K NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA. 4164 Ser-rich. cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 GAGCCTTGCCCTGGAGGAAAT 0.398000 23 23 0 0 1 0 0 NOS1 4842 broad.mit.edu 37 12 117768407 117768407 + Silent SNP C T T TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr12:117768407C>T uc001twn.2 - 1 1179 c.468G>A c.(466-468)ggG>ggA p.G156G NOS1_uc001twm.2_Silent_p.G156G NM_001204218 NP_001191147 P29475 NOS1_HUMAN Homo sapiens nitric oxide synthase 1 (neuronal) (NOS1), transcript variant 2, mRNA. 156 Interaction with NOSIP (By similarity). multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum FMN binding|NADP binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|heme binding|nitric-oxide synthase activity|tetrahydrobiopterin binding NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 117 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.0561) L-Citrulline(DB00155) GAGGCCCATTCCCGGGACCCG 0.701000 5 137 0 0 1 0 0 VN1R5 317705 broad.mit.edu 37 1 247420411 247420411 + Silent SNP G A A TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr1:247420411G>A uc010pyu.2 + 1 1035 c.1035G>A c.(1033-1035)ttG>ttA p.L345L NM_173858 NP_776257 Q7Z5H4 VN1R5_HUMAN Homo sapiens vomeronasal 1 receptor 5 (gene/pseudogene) (VN1R5), mRNA. 346 response to pheromone integral to membrane|plasma membrane pheromone receptor activity all_cancers(71;5.7e-05)|all_epithelial(71;1.03e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661) all_cancers(173;0.0314) OV - Ovarian serous cystadenocarcinoma(106;0.00854) agctcatgttgaaatttaatc 0.373000 20 13 0 0 1 0 0 CDC27 996 broad.mit.edu 37 17 45266512 45266512 + Splice_Site SNP C T T TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr17:45266512C>T uc002ile.4 - 1 154 c.27_splice c.e1+1 p.Q9_splice CDC27_uc002ild.4_Splice_Site_p.Q9_splice|CDC27_uc002ilf.4_Splice_Site_p.Q9_splice|CDC27_uc010wkp.2_Splice_Site|CDC27_uc010wkq.1_Splice_Site NM_001114091 NP_001107563 P30260 CDC27_HUMAN Homo sapiens cell division cycle 27 homolog (S. cerevisiae) (CDC27), transcript variant 1, mRNA. 9 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule protein phosphatase binding NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2) 90 TTATCATTACCTGGACGGGTT 0.692000 35 31 0 0 1 0 0 CEACAM18 729767 broad.mit.edu 37 19 51986339 51986340 + Missense_Mutation DNP GG AA AA TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr19:51986339_51986340GG>AA uc002pwv.1 + 4 925_926 c.925_926GG>AA c.(925-927)ggc>AAc p.G309N NM_001080405 NP_001073874 A8MTB9 CEA18_HUMAN Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 18 (CEACAM18), mRNA. 309 Ig-like C2-type. integral to membrane breast(1)|endometrium(4)|large_intestine(3)|lung(8)|skin(1) 17 all_neural(266;0.0529) GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.00979) AGCTGAGATCGGCTCCCAAGTG 0.515000 154 126 0 0 1 0 0 ADAMTS7 11173 broad.mit.edu 37 15 79069913 79069913 + Missense_Mutation SNP C T T TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr15:79069913C>T uc002bej.4 - 8 1551 c.1340G>A c.(1339-1341)tGc>tAc p.C447Y ADAMTS7_uc010und.1_Intron|ADAMTS7_uc002bek.1_Missense_Mutation_p.C447Y NM_014272 NP_055087 Q9UKP4 ATS7_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 7 (ADAMTS7), mRNA. 447 Peptidase M12B. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9) 54 GTCGTCCAGGCACAGGCCCCA 0.657000 13 12 0 0 1 0 0 PEX14 5195 broad.mit.edu 37 1 10684462 10684462 + Nonsense_Mutation SNP C T T rs61752116 TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr1:10684462C>T uc001arn.3 + 6 574 c.553C>T c.(553-555)Cag>Tag p.Q185* PEX14_uc009vmv.3_Nonsense_Mutation_p.Q121*|PEX14_uc010oam.2_Nonsense_Mutation_p.Q121*|PEX14_uc010oan.2_Nonsense_Mutation_p.Q142*|PEX14_uc009vmw.3_Nonsense_Mutation_p.Q121* NM_004565 NP_004556 O75381 PEX14_HUMAN Homo sapiens peroxisomal biogenesis factor 14 (PEX14), mRNA. 185 negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|protein homooligomerization|protein import into peroxisome matrix|transmembrane transport integral to membrane|nucleus|peroxisomal membrane|protein complex protein N-terminus binding|transcription corepressor activity breast(3)|endometrium(1)|large_intestine(3)|lung(5)|prostate(1) 13 Ovarian(185;0.203) all_lung(284;6.02e-06)|Lung NSC(185;9.62e-06)|Renal(390;0.000147)|Breast(348;0.000932)|Colorectal(325;0.00215)|Hepatocellular(190;0.00913)|Ovarian(437;0.023)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0292)|Colorectal(212;9.13e-08)|COAD - Colon adenocarcinoma(227;2.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000482)|Kidney(185;0.00174)|KIRC - Kidney renal clear cell carcinoma(229;0.00457)|STAD - Stomach adenocarcinoma(132;0.0249)|READ - Rectum adenocarcinoma(331;0.0419) GCAGAAGATCCAGGAGCTTGC 0.612000 88 69 0 0 1 0 0 PLEKHA8P1 51054 broad.mit.edu 37 12 45567149 45567149 + Nonsense_Mutation SNP G A A TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr12:45567149G>A uc001rom.2 - 2 1537 c.1000C>T c.(1000-1002)Cga>Tga p.R334* Homo sapiens pleckstrin homology domain containing, family A member 8 pseudogene 1 (PLEKHA8P1), non-coding RNA. breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 AAAACCCCTCGAACTACCCAG 0.463000 64 49 0 0 1 0 0 ILVBL 10994 broad.mit.edu 37 19 15234334 15234335 + Missense_Mutation DNP CC TT TT TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr19:15234334_15234335CC>TT uc002nam.3 - 2 309_310 c.188_189GG>AA c.(187-189)agg>aAA p.R63K ILVBL_uc010dzx.1_Missense_Mutation_p.R63K NM_006844 NP_006835 A1L0T0 ILVBL_HUMAN Homo sapiens ilvB (bacterial acetolactate synthase)-like (ILVBL), mRNA. 63 integral to membrane magnesium ion binding|thiamine pyrophosphate binding|transferase activity NS(3)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1) 26 CACCATGGGCCCTCAGCACAGC 0.624000 108 57 0 0 1 0 0 FAM40B 57464 broad.mit.edu 37 7 129100212 129100212 + Splice_Site SNP T C C TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr7:129100212T>C uc011koy.2 + 13 1516 c.1476_splice c.e13+1 p.L492_splice FAM40B_uc003vow.3_Splice_Site_p.L492_splice|FAM40B_uc011koz.2_5'UTR NM_020704 NP_065755 Q9ULQ0 FA40B_HUMAN Homo sapiens family with sequence similarity 40, member B (FAM40B), transcript variant 1, mRNA. 492 breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 CCTATGTCTTTGGTGAGCCAA 0.458000 11 14 0 0 1 0 0 MLL3 58508 broad.mit.edu 37 7 151845993 151845993 + Missense_Mutation SNP C T T TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr7:151845993C>T uc003wla.3 - 51 13238 c.13019G>A c.(13018-13020)gGt>gAt p.G4340D MLL3_uc003wkz.3_Missense_Mutation_p.G3458D|MLL3_uc003wkx.3_Missense_Mutation_p.G498D|MLL3_uc003wky.3_Missense_Mutation_p.G1904D NM_170606 NP_733751 Q8NEZ4 MLL3_HUMAN Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA. 4340 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) TTCAAACCCACCATGGACAGC 0.483000 N medulloblastoma 40 32 0 0 1 0 0 PLG 5340 broad.mit.edu 37 6 161174038 161174038 + Missense_Mutation SNP A C C TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr6:161174038A>C uc003qtm.4 + 18 2490 c.2378A>C c.(2377-2379)tAt>tCt p.Y793S NM_000301 NP_000292 P00747 PLMN_HUMAN Homo sapiens plasminogen (PLG), transcript variant 1, mRNA. 793 Peptidase S1. extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen apolipoprotein binding|cell surface binding|serine-type endopeptidase activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1) 59 OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06) Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013) CCTGGTGTCTATGTTCGTGTT 0.473000 22 29 0 0 1 0 0 PI4KA 5297 broad.mit.edu 37 22 21150545 21150545 + Missense_Mutation SNP G T T TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr22:21150545G>T uc002zsz.4 - 17 2253 c.1992C>A c.(1990-1992)gaC>gaA p.D664E NM_058004 NP_477352 P42356 PI4KA_HUMAN Homo sapiens phosphatidylinositol 4-kinase, catalytic, alpha (PI4KA), transcript variant 1, mRNA. 664 phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission Golgi-associated vesicle 1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 79 all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196) CCAGGTGCTCGTCTTGGATGT 0.582000 4 31 5.60225e-13 5.64607e-13 1 1 0 DNAI1 27019 broad.mit.edu 37 9 34517295 34517295 + Missense_Mutation SNP G T T TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr9:34517295G>T uc003zum.3 + 18 2024 c.1831G>T c.(1831-1833)Gac>Tac p.D611Y NM_012144 NP_036276 Q9UI46 DNAI1_HUMAN Homo sapiens dynein, axonemal, intermediate chain 1 (DNAI1), mRNA. 611 cell projection organization cilium axoneme|cytoplasm|dynein complex|microtubule motor activity autonomic_ganglia(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|prostate(1)|skin(2)|urinary_tract(1) 34 all_epithelial(49;0.244) LUSC - Lung squamous cell carcinoma(29;0.0107)|STAD - Stomach adenocarcinoma(86;0.212) GBM - Glioblastoma multiforme(74;0.0222) CCACATATTTGACTTAGCCAT 0.537000 Kartagener syndrome 4 25 2.27525e-19 2.29905e-19 1 1 0 C10orf76 79591 broad.mit.edu 37 10 103649230 103649230 + Missense_Mutation SNP A T T TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr10:103649230A>T uc009xwy.1 - 23 1901 c.1799T>A c.(1798-1800)tTt>tAt p.F600Y C10orf76_uc009xwx.1_Non-coding_Transcript NM_024541 NP_078817 Q5T2E6 CJ076_HUMAN Homo sapiens chromosome 10 open reading frame 76 (C10orf76), mRNA. 600 integral to membrane autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|upper_aerodigestive_tract(2) 24 Colorectal(252;0.123) Epithelial(162;2.41e-08)|all cancers(201;6.41e-07) TTTGGGGTTAAAGTGGTTGAT 0.428000 182 152 0 0 1 0 0 ODZ4 26011 broad.mit.edu 37 11 78440523 78440523 + Missense_Mutation SNP A G G TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr11:78440523A>G uc001ozl.4 - 21 3767 c.3304T>C c.(3304-3306)Ttc>Ctc p.F1102L NM_001098816 NP_001092286 Q6N022 TEN4_HUMAN Homo sapiens odz, odd Oz/ten-m homolog 4 (Drosophila) (ODZ4), mRNA. 1102 signal transduction integral to membrane breast(4)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(45)|ovary(3)|pancreas(2)|prostate(4)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 95 CACTTCCTGAAGAGGCGGCCC 0.547000 38 25 0 0 1 0 0 LPAR1 1902 broad.mit.edu 37 9 113704412 113704412 + Missense_Mutation SNP C T T TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr9:113704412C>T uc011lwo.2 - 1 87 c.85G>A c.(85-87)Gag>Aag p.E29K LPAR1_uc004bfa.3_Missense_Mutation_p.E28K|LPAR1_uc011lwm.2_Missense_Mutation_p.E29K|LPAR1_uc004bfc.3_Missense_Mutation_p.E28K|LPAR1_uc011lwn.2_Missense_Mutation_p.E10K|LPAR1_uc004bfb.3_Missense_Mutation_p.E28K|LPAR1_uc010mub.3_Missense_Mutation_p.E28K NM_057159 NP_476500 Q92633 LPAR1_HUMAN Homo sapiens lysophosphatidic acid receptor 1 (LPAR1), transcript variant 2, mRNA. 28 positive regulation of I-kappaB kinase/NF-kappaB cascade cell surface|integral to plasma membrane breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(6)|skin(1) 21 GCAATGGACTCGTTGTAGAAG 0.398000 3 37 0 0 1 0 0 SNRPN 6638 broad.mit.edu 37 15 25446284 25446284 + Splice_Site SNP C T T TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr15:25446284C>T uc001yzk.1 + 5 c.308_splice c.e5-1 SNRPN_uc010ayo.1_Splice_Site|SNORD115-17_uc001yzn.1_5'Flank|SNORD115-17_uc001yzo.1_5'Flank P63162 RSMN_HUMAN Homo sapiens clone Rt-13I SNURF-SNRPN mRNA, downstream untranslated exons, alternatively spliced. RNA splicing small nuclear ribonucleoprotein complex|spliceosomal complex RNA binding|identical protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(2) 24 all_cancers(20;9.33e-22)|Breast(32;0.000625) all cancers(64;3.38e-08)|Epithelial(43;3.45e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000207)|GBM - Glioblastoma multiforme(186;0.125) TTCCCCTAGACTGTGAAATGG 0.562000 Prader-Willi syndrome 22 9 0 0 1 0 0 WT1 7490 broad.mit.edu 37 11 32413526 32413526 + Missense_Mutation SNP C T T TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr11:32413526C>T uc001mtn.2 - 8 1614 c.1424G>A c.(1423-1425)gGt>gAt p.G475D WT1_uc001mtl.2_Splice_Site_p.G263_splice|WT1_uc001mtm.2_Missense_Mutation_p.G246D|WT1_uc001mto.2_Splice_Site_p.G475_splice|WT1_uc001mtq.2_Splice_Site_p.G458_splice|WT1_uc009yjs.2_Non-coding_Transcript NM_024426 NP_077744 P19544 WT1_HUMAN Homo sapiens Wilms tumor 1 (WT1), transcript variant D, mRNA. 407 RNA splicing|adrenal cortex formation|branching involved in ureteric bud morphogenesis|camera-type eye development|cardiac muscle cell fate commitment|cellular response to cAMP|cellular response to gonadotropin stimulus|germ cell development|glomerular basement membrane development|glomerular visceral epithelial cell differentiation|induction of apoptosis|male genitalia development|male gonad development|mesenchymal to epithelial transition|metanephric S-shaped body morphogenesis|metanephric epithelium development|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of female gonad development|negative regulation of metanephric glomerular mesangial cell proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of translation|positive regulation of male gonad development|positive regulation of transcription, DNA-dependent|posterior mesonephric tubule development|regulation of organ formation|sex determination|vasculogenesis|visceral serous pericardium development cytoplasm|nuclear speck|nucleoplasm C2H2 zinc finger domain binding|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding p.V380_S410del(1) EWSR1/WT1(234) NS(1)|haematopoietic_and_lymphoid_tissue(348)|kidney(149)|large_intestine(9)|lung(20)|peritoneum(1)|pleura(2)|skin(2)|upper_aerodigestive_tract(1) 533 Breast(20;0.247) OV - Ovarian serous cystadenocarcinoma(30;0.128) ACTTGTTTTACCTGTATGAGT 0.388000 """D, Mis, N, F, S""" EWSR1 """Wilms, desmoplastic small round cell tumor""" Wilms Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation;Frasier syndrome;Familial Wilms' tumor;Denys-Drash syndrome 188 161 0 0 1 0 0 SIPA1L1 26037 broad.mit.edu 37 14 72054918 72054918 + Missense_Mutation SNP C T T TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr14:72054918C>T uc001xms.3 + 1 690 c.329C>T c.(328-330)tCc>tTc p.S110F SIPA1L1_uc001xmt.3_Missense_Mutation_p.S110F|SIPA1L1_uc001xmu.3_Missense_Mutation_p.S110F|SIPA1L1_uc001xmv.3_Missense_Mutation_p.S110F NM_015556 NP_056371 O43166 SI1L1_HUMAN Homo sapiens signal-induced proliferation-associated 1 like 1 (SIPA1L1), mRNA. 110 Ser-rich. actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome GTPase activator activity NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1) 78 all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109) GATAGCCTGTCCTCCAAAAGC 0.453000 146 104 0 0 1 0 0 SYNPO2 171024 broad.mit.edu 37 4 119951914 119951914 + Missense_Mutation SNP G A A TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr4:119951914G>A uc010inb.3 + 3 2180 c.1984G>A c.(1984-1986)Gat>Aat p.D662N SYNPO2_uc010ina.3_Missense_Mutation_p.D662N|SYNPO2_uc003icm.4_Missense_Mutation_p.D662N|SYNPO2_uc011cgh.2_Intron|SYNPO2_uc010inc.3_Missense_Mutation_p.D590N|SYNPO2_uc021xrd.1_5'Flank NM_133477 NP_597734 Q9UMS6 SYNP2_HUMAN Homo sapiens synaptopodin 2 (SYNPO2), transcript variant 1, mRNA. 662 Z disc|nucleus 14-3-3 protein binding|actin binding|muscle alpha-actinin binding breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 AGCCTTTTACGATTCGTCTGA 0.572000 53 50 0 0 1 0 0 NUDT2 318 broad.mit.edu 37 9 34339151 34339151 + Nonsense_Mutation SNP G A A TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr9:34339151G>A uc003zuc.3 + 3 401 c.114G>A c.(112-114)tgG>tgA p.W38* NUDT2_uc003zub.3_Nonsense_Mutation_p.W38*|NUDT2_uc003zud.3_Nonsense_Mutation_p.W38*|NUDT2_uc022bga.1_Nonsense_Mutation_p.W38* NM_147172 NP_671701 P50583 AP4A_HUMAN Homo sapiens nudix (nucleoside diphosphate linked moiety X)-type motif 2 (NUDT2), transcript variant 2, mRNA. 38 Nudix hydrolase. induction of apoptosis|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process GTP binding|bis(5'-nucleosyl)-tetraphosphatase (asymmetrical) activity|bis(5'-nucleosyl)-tetraphosphatase (symmetrical) activity lung(3) 3 LUSC - Lung squamous cell carcinoma(29;0.0107) GBM - Glioblastoma multiforme(74;0.126) TTCATCACTGGACTCCTCCCA 0.517000 8 58 0 0 1 0 0 WIBG 84305 broad.mit.edu 37 12 56295778 56295778 + Missense_Mutation SNP C T T TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr12:56295778C>T uc001sif.1 - 2 645 c.493G>A c.(493-495)Gaa>Aaa p.E165K WIBG_uc001sie.1_Missense_Mutation_p.E164K NM_032345 NP_115721 Q9BRP8 WIBG_HUMAN Homo sapiens within bgcn homolog (Drosophila) (WIBG), transcript variant 1, mRNA. 165 eIF2A-like. nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation cytoplasm|exon-exon junction complex|nucleolus|nucleoplasm RNA binding|protein binding|ribosome binding central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2) 5 TGCAGCTCTTCCACCTGCCGG 0.557000 251 188 0 0 1 0 0 CYP11B1 1584 broad.mit.edu 37 8 143960498 143960498 + Silent SNP G A A TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr8:143960498G>A uc010mey.3 - 2 487 c.480C>T c.(478-480)ccC>ccT p.P160P CYP11B1_uc003yxh.3_5'Flank|CYP11B1_uc003yxi.3_Silent_p.P115P|CYP11B1_uc003yxj.3_Silent_p.P115P NM_000497 NP_000488 P15538 C11B1_HUMAN Homo sapiens cytochrome P450, family 11, subfamily B, polypeptide 1 (CYP11B1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 115 M -> I (in dbSNP:rs5287). aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process mitochondrial inner membrane electron carrier activity|steroid 11-beta-monooxygenase activity central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2) 67 all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) Mitotane(DB00648) AGGCCACCCAGGGCTCCAGGC 0.617000 Familial Hyperaldosteronism type I 65 40 0 0 1 0 0 ACAN 176 broad.mit.edu 37 15 89400692 89400692 + Missense_Mutation SNP C T T TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr15:89400692C>T uc010upo.1 + 11 5250 c.4876C>T c.(4876-4878)Ccc>Tcc p.P1626S ACAN_uc010upp.1_Missense_Mutation_p.P1626S|ACAN_uc002bna.2_Non-coding_Transcript NM_013227 NP_037359 E7EX88 E7EX88_HUMAN Homo sapiens aggrecan (ACAN), transcript variant 2, mRNA. 1626 cell adhesion hyaluronic acid binding|sugar binding NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 93 Lung NSC(78;0.0392)|all_lung(78;0.077) BRCA - Breast invasive adenocarcinoma(143;0.146) AAGTGGTCTTCCCTCTGGATT 0.522000 159 134 0 0 1 0 0 ODZ4 26011 broad.mit.edu 37 11 78440650 78440650 + Missense_Mutation SNP C T T TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr11:78440650C>T uc001ozl.4 - 21 3640 c.3177G>A c.(3175-3177)atG>atA p.M1059I NM_001098816 NP_001092286 Q6N022 TEN4_HUMAN Homo sapiens odz, odd Oz/ten-m homolog 4 (Drosophila) (ODZ4), mRNA. 1059 signal transduction integral to membrane breast(4)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(45)|ovary(3)|pancreas(2)|prostate(4)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 95 AGCTCAGCCTCATCTTGCAGC 0.567000 106 72 0 0 1 0 0 ATG12 9140 broad.mit.edu 37 5 115168334 115168334 + Missense_Mutation SNP G A A TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr5:115168334G>A uc003krh.3 - 2 627 c.328C>T c.(328-330)Cct>Tct p.P110S ATG12_uc021ycr.1_Non-coding_Transcript|ATG12_uc021ycs.1_Non-coding_Transcript|ATG12_uc003kri.3_Missense_Mutation_p.S111F NM_004707 NP_004698 O94817 ATG12_HUMAN Homo sapiens ATG12 autophagy related 12 homolog (S. cerevisiae) (ATG12), transcript variant 1, mRNA. 110 autophagic vacuole assembly|negative regulation of type I interferon production pre-autophagosomal structure membrane protein binding endometrium(2)|kidney(1)|lung(1)|prostate(1) 5 all_cancers(142;0.00377)|all_epithelial(76;0.000129)|Prostate(80;0.0132)|Ovarian(225;0.0776)|Lung NSC(810;0.245) OV - Ovarian serous cystadenocarcinoma(64;7.59e-08)|Epithelial(69;7.05e-07)|all cancers(49;3.11e-05) TCTGGGGAAGGAGCAAAGGAC 0.303000 45 36 0 0 1 0 0 RGAG1 57529 broad.mit.edu 37 X 109694485 109694485 + Missense_Mutation SNP G A A TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chrX:109694485G>A uc004eor.2 + 2 886 c.640G>A c.(640-642)Gga>Aga p.G214R RGAG1_uc011msr.1_Missense_Mutation_p.G214R NM_020769 NP_065820 Q8NET4 RGAG1_HUMAN Homo sapiens retrotransposon gag domain containing 1 (RGAG1), mRNA. 214 NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 73 TATGAATCCTGGAGTGATGTC 0.458000 14 111 0 0 1 0 0 ATR 545 broad.mit.edu 37 3 142281333 142281333 + Missense_Mutation SNP G A A TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr3:142281333G>A uc003eux.4 - 3 1033 c.911C>T c.(910-912)cCc>cTc p.P304L NM_001184 NP_001175 Q13535 ATR_HUMAN Homo sapiens ataxia telangiectasia and Rad3 related (ATR), mRNA. 304 DNA damage checkpoint|DNA repair|DNA replication|cell cycle|cellular response to UV|cellular response to gamma radiation|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence PML body ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4) 122 TGCTTCAAAGGGAAATAGTGT 0.358000 Other conserved DNA damage response genes 71 43 0 0 1 0 0 SLC25A11 8402 broad.mit.edu 37 17 4842408 4842408 + Silent SNP G A A TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr17:4842408G>A uc002fzo.2 - 1 452 c.195C>T c.(193-195)ttC>ttT p.F65F SLC25A11_uc002fzp.2_Silent_p.F33F|SLC25A11_uc021tod.1_Silent_p.F54F|SLC25A11_uc021toe.1_Intron|RNF167_uc002fzs.3_5'Flank|RNF167_uc002fzw.2_5'Flank|RNF167_uc002fzu.3_5'Flank NM_003562 NP_003553 Q02978 M2OM_HUMAN Homo sapiens solute carrier family 25 (mitochondrial carrier; oxoglutarate carrier), member 11 (SLC25A11), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 65 gluconeogenesis integral to plasma membrane|mitochondrial inner membrane oxoglutarate:malate antiporter activity NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5) 10 TGAGGGCATGGAAGCTGGTTT 0.567000 63 66 0 0 1 0 0 ACLY 47 broad.mit.edu 37 17 40025766 40025766 + Silent SNP G A A TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr17:40025766G>A uc002hyg.3 - 25 3175 c.3012C>T c.(3010-3012)ctC>ctT p.L1004L ACLY_uc002hyh.3_Silent_p.L994L|ACLY_uc002hyi.3_Silent_p.L1058L|ACLY_uc010wfx.2_Silent_p.L1048L|ACLY_uc010wfy.2_Silent_p.L733L NM_001096 NP_001087 P53396 ACLY_HUMAN Homo sapiens ATP citrate lyase (ACLY), transcript variant 1, mRNA. 1004 ATP catabolic process|cellular carbohydrate metabolic process|citrate metabolic process|coenzyme A metabolic process|energy reserve metabolic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process citrate lyase complex|cytosol|nucleus ATP binding|ATP citrate synthase activity|citrate (pro-3S)-lyase activity|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity NTN1/ACLY(2) breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 28 Breast(137;0.000143) GTGCATAATCGAGCAGAGGAG 0.453000 71 56 0 0 1 0 0 CFHR1 3078 broad.mit.edu 37 1 196799769 196799769 + Silent SNP A C C TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr1:196799769A>C uc001gtn.3 + 4 861 c.747A>C c.(745-747)atA>atC p.I249I CFH_uc021pgt.1_Intron|CFHR1_uc001gtm.3_Silent_p.I153I NM_002113 NP_002104 Q03591 FHR1_HUMAN Homo sapiens complement factor H-related 1 (CFHR1), mRNA. 249 Sushi 4. complement activation extracellular space NS(1)|kidney(1)|large_intestine(2)|lung(7) 11 ACAAGCGAATAACATGTAGAA 0.393000 57 53 0 0 1 0 0 NCOA3 8202 broad.mit.edu 37 20 46268356 46268356 + Missense_Mutation SNP C T T TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr20:46268356C>T uc002xtk.3 + 14 3004 c.2743C>T c.(2743-2745)Cct>Tct p.P915S NCOA3_uc002xtl.3_Missense_Mutation_p.P915S|NCOA3_uc002xtn.3_Missense_Mutation_p.P915S|NCOA3_uc010ght.2_Intron|NCOA3_uc002xtm.3_Missense_Mutation_p.P915S|NCOA3_uc010zyc.2_Missense_Mutation_p.P710S NM_181659 NP_858045 Q9Y6Q9 NCOA3_HUMAN Homo sapiens nuclear receptor coactivator 3 (NCOA3), transcript variant 1, mRNA. 915 androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleoplasm androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 52 GACTCAGACTCCTTCCTCAGG 0.428000 135 129 0 0 1 0 0 OR4N3P 390539 broad.mit.edu 37 15 22413950 22413950 + Silent SNP C T T TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr15:22413950C>T uc001yuf.3 + 0 489 c.249C>T c.(247-249)atC>atT p.I83I abParts_uc001yuj.2_Intron Homo sapiens olfactory receptor, family 4, subfamily N, member 3 pseudogene (OR4N3P), non-coding RNA. TGGTCCTCATCATCCGCTTGC 0.507000 74 73 0 0 1 0 0 GLP2R 9340 broad.mit.edu 37 17 9737190 9737190 + Missense_Mutation SNP G A A TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr17:9737190G>A uc002gmd.1 + 1 256 c.256G>A c.(256-258)Gac>Aac p.D86N GLP2R_uc010cog.1_Non-coding_Transcript NM_004246 NP_004237 O95838 GLP2R_HUMAN Homo sapiens glucagon-like peptide 2 receptor (GLP2R), mRNA. 86 G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of cell proliferation integral to membrane|plasma membrane endometrium(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1) 44 Glucagon recombinant(DB00040) ATGTCTGAGAGACTTACTCAA 0.468000 24 28 0 0 1 0 0 ABCC12 94160 broad.mit.edu 37 16 48145687 48145687 + Splice_Site SNP C T T TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr16:48145687C>T uc002efc.1 - 14 2470 c.2124_splice c.e14+1 p.K708_splice ABCC12_uc002eey.1_Splice_Site|ABCC12_uc002eez.1_Splice_Site|ABCC12_uc002efa.1_Splice_Site|ABCC12_uc002efb.1_Splice_Site|ABCC12_uc002efd.1_Splice_Site NM_033226 NP_150229 Q96J65 MRP9_HUMAN Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 12 (ABCC12), mRNA. 708 integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1) 90 all_cancers(37;0.0474)|all_lung(18;0.047) TGTGAGTTACCTTGAACTGCA 0.498000 66 54 0 0 1 0 0 ANKRD30A 91074 broad.mit.edu 37 10 37430843 37430843 + Nonsense_Mutation SNP C T T TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr10:37430843C>T uc021ppc.1 + 6 949 c.850C>T c.(850-852)Caa>Taa p.Q284* ANKRD30A_uc001iza.1_Nonsense_Mutation_p.Q284* NM_052997 NP_443723 Q9BXX3 AN30A_HUMAN Homo sapiens ankyrin repeat domain 30A (ANKRD30A), mRNA. 340 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 TGACAAAATTCAATGTTTGGA 0.448000 54 47 0 0 1 0 0 ZNF347 84671 broad.mit.edu 37 19 53644911 53644911 + Silent SNP G A A TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr19:53644911G>A uc002qbc.2 - 4 1600 c.1173C>T c.(1171-1173)atC>atT p.I391I ZNF347_uc002qbb.2_Silent_p.I390I|ZNF347_uc010eql.2_Silent_p.I391I NM_001172674 NP_001166146 Q96SE7 ZN347_HUMAN Homo sapiens zinc finger protein 347 (ZNF347), transcript variant 1, mRNA. 390 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1) 23 GBM - Glioblastoma multiforme(134;0.0179) TTGCCTGATGGATAGCTAAGC 0.408000 46 43 0 0 1 0 0 MKI67 4288 broad.mit.edu 37 10 129914759 129914759 + Silent SNP G A A TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr10:129914759G>A uc001lke.3 - 5 591 c.396C>T c.(394-396)gaC>gaT p.D132D MKI67_uc001lkf.3_Silent_p.D132D|MKI67_uc009yav.1_Silent_p.D67D|MKI67_uc009yaw.1_Intron NM_002417 NP_002408 P46013 KI67_HUMAN Homo sapiens antigen identified by monoclonal antibody Ki-67 (MKI67), transcript variant 1, mRNA. 132 cell proliferation nucleolus ATP binding|protein C-terminus binding NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4) 159 all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203) ACTCACCAGGGTCAGAAGAGA 0.438000 55 36 0 0 1 0 0 SERPING1 710 broad.mit.edu 37 11 57379382 57379382 + Missense_Mutation SNP G A A TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr11:57379382G>A uc001nkp.1 + 6 1413 c.1222G>A c.(1222-1224)Gat>Aat p.D408N SERPING1_uc010rju.1_Missense_Mutation_p.D356N|SERPING1_uc010rjv.1_Missense_Mutation_p.D413N|SERPING1_uc001nkr.1_Missense_Mutation_p.D408N|SERPING1_uc001nks.1_Missense_Mutation_p.D99N NM_000062 NP_001027466 P05155 IC1_HUMAN Homo sapiens serpin peptidase inhibitor, clade G (C1 inhibitor), member 1 (SERPING1), transcript variant 1, mRNA. 408 D -> V (in HAE; type 1). blood circulation|blood coagulation, intrinsic pathway|complement activation, classical pathway|innate immune response|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation extracellular space|platelet alpha granule lumen protein binding|serine-type endopeptidase inhibitor activity p.Q407H(1) central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(1) 27 GACCAGCCAGGATATGCTCTC 0.517000 67 69 0 0 1 0 0 CSRP1 1465 broad.mit.edu 37 1 201453892 201453893 + Missense_Mutation DNP GG AA AA TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr1:201453892_201453893GG>AA uc021phg.1 - 5 683_684 c.530_531CC>TT c.(529-531)ccc>cTT p.P177L CSRP1_uc001gwr.2_Non-coding_Transcript|CSRP1_uc021phh.1_Missense_Mutation_p.P177L|CSRP1_uc001gws.3_Missense_Mutation_p.P177L|CSRP1_uc010ppr.2_Missense_Mutation_p.P171L NM_001193572 NP_004069 P21291 CSRP1_HUMAN Homo sapiens cysteine and glycine-rich protein 1 (CSRP1), transcript variant 5, mRNA. 177 Gly-rich. nucleus zinc ion binding large_intestine(3)|lung(2)|ovary(1) 6 CAAAGCCCTTGGGCCCGAAGTT 0.579000 29 37 0 0 1 0 0 RIPPLY1 92129 broad.mit.edu 37 X 106144090 106144090 + Silent SNP C T T TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chrX:106144090C>T uc004emr.2 - 3 389 c.345G>A c.(343-345)ggG>ggA p.G115G MORC4_uc004emp.4_Intron|CLDN2_uc004emq.1_Intron|RIPPLY1_uc004ems.2_Silent_p.G68G NM_138382 NP_612391 Q0D2K3 RIPP1_HUMAN Homo sapiens ripply1 homolog (zebrafish) (RIPPLY1), transcript variant 1, mRNA. 115 Ripply homology domain. negative regulation of transcription, DNA-dependent|somite rostral/caudal axis specification|somite specification|transcription, DNA-dependent nucleus lung(1)|urinary_tract(1) 2 GTAAAATCTCCCCAGCACTGT 0.502000 2 35 0 0 1 0 0 LRTM1 57408 broad.mit.edu 37 3 54952852 54952852 + Silent SNP G A A TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr3:54952852G>A uc003dhl.3 - 2 806 c.672C>T c.(670-672)atC>atT p.I224I CACNA2D3_uc003dhf.3_Intron|CACNA2D3_uc003dhg.1_Intron|CACNA2D3_uc003dhh.1_Intron NM_020678 NP_065729 Q9HBL6 LRTM1_HUMAN Homo sapiens leucine-rich repeats and transmembrane domains 1 (LRTM1), mRNA. 224 LRRCT. integral to membrane p.I224I(2) breast(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(4) 21 KIRC - Kidney renal clear cell carcinoma(284;0.00975)|Kidney(284;0.0112)|OV - Ovarian serous cystadenocarcinoma(275;0.0502) GCTCATGAGGGATCCTAAGGA 0.542000 22 17 0 0 1 0 0 DPP9 91039 broad.mit.edu 37 19 4704146 4704146 + Missense_Mutation SNP G T T TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr19:4704146G>T uc002mba.3 - 5 855 c.597C>A c.(595-597)ttC>ttA p.F199L NM_139159 NP_631898 Q86TI2 DPP9_HUMAN Homo sapiens dipeptidyl-peptidase 9 (DPP9), mRNA. 170 proteolysis cytosol|membrane aminopeptidase activity|serine-type peptidase activity cervix(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00884) GGCTCACCATGAAGCCGTTCT 0.657000 64 49 6.61955e-31 6.74165e-31 1 1 0 SMARCAD1 56916 broad.mit.edu 37 4 95194771 95194771 + Silent SNP C T T TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr4:95194771C>T uc003htb.4 + 11 1753 c.1576C>T c.(1576-1578)Cta>Tta p.L526L SMARCAD1_uc003htc.4_Silent_p.L526L|SMARCAD1_uc003htd.4_Silent_p.L526L|SMARCAD1_uc010ila.3_Silent_p.L389L|SMARCAD1_uc011cdw.2_Silent_p.L96L NM_001128430 NP_001121902 Q9H4L7 SMRCD_HUMAN Homo sapiens SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1 (SMARCAD1), transcript variant 2, mRNA. 526 Helicase ATP-binding. chromatin modification|nucleotide metabolic process|positive regulation of transcription, DNA-dependent|protein homooligomerization|regulation of DNA recombination nuclear matrix ATP binding|DNA binding|helicase activity breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|liver(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 44 OV - Ovarian serous cystadenocarcinoma(123;4.33e-08) TTTTTAGGGCCTAGGAAAAAC 0.313000 18 13 0 0 1 0 0 OR52K2 119774 broad.mit.edu 37 11 4471472 4471472 + Silent SNP C T T TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr11:4471472C>T uc001lyz.2 + 0 948 c.903C>T c.(901-903)atC>atT p.I301I NM_001005172 NP_001005172 Q8NGK3 O52K2_HUMAN Homo sapiens olfactory receptor, family 52, subfamily K, member 2 (OR52K2), mRNA. 301 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|skin(6) 25 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;1.48e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0821)|LUSC - Lung squamous cell carcinoma(625;0.19) CCAAGCAAATCCGTGAGAGCA 0.498000 56 43 0 0 1 0 0 PTPRG 5793 broad.mit.edu 37 3 62189459 62189459 + Missense_Mutation SNP C T T TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr3:62189459C>T uc003dlb.3 + 11 2709 c.1990C>T c.(1990-1992)Cca>Tca p.P664S PTPRG_uc003dlc.3_Missense_Mutation_p.P664S NM_002841 NP_002832 P23470 PTPRG_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, G (PTPRG), mRNA. 664 transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane identical protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 62 BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065) GGATGCCGGCCCAGGCCTGGA 0.637000 23 19 0 0 1 0 0 OR10AG1 282770 broad.mit.edu 37 11 55735160 55735160 + Silent SNP C T T TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr11:55735160C>T uc010rit.2 - 0 780 c.780G>A c.(778-780)agG>agA p.R260R NM_001005491 NP_001005491 Q8NH19 O10AG_HUMAN Homo sapiens olfactory receptor, family 10, subfamily AG, member 1 (OR10AG1), mRNA. 260 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.R260M(1) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(24)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 40 Esophageal squamous(21;0.0137) GTTTCCCCATCCTTTGAAACT 0.383000 21 16 0 0 1 0 0 KIAA2022 340533 broad.mit.edu 37 X 73963687 73963687 + Nonsense_Mutation SNP A T T TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chrX:73963687A>T uc004eby.3 - 2 1322 c.705T>A c.(703-705)taT>taA p.Y235* NM_001008537 NP_001008537 Q5QGS0 K2022_HUMAN Homo sapiens KIAA2022 (KIAA2022), mRNA. 235 DNA replication proofreading|DNA replication, removal of RNA primer|S phase of mitotic cell cycle|base-excision repair, gap-filling|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle delta DNA polymerase complex 3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3) 109 ATGCCTCATAATAGCTTTTCT 0.443000 9 101 0 0 1 0 0 ING3 54556 broad.mit.edu 37 7 120590817 120590817 + Splice_Site SNP T C C TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 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 8 4 0 0 1 0 0 DSCAM 1826 broad.mit.edu 37 21 42080412 42080412 + Missense_Mutation SNP T A A TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr21:42080412T>A uc002yyq.1 - 1 781 c.329A>T c.(328-330)aAa>aTa p.K110I DSCAM_uc002yyr.1_Non-coding_Transcript NM_001389 NP_001380 O60469 DSCAM_HUMAN Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA. 110 Ig-like C2-type 1. cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction protein binding NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4) 142 all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103) ACTTCTAATTTTCCCTGAAGG 0.443000 67 77 0 0 1 0 0 RPGRIP1 57096 broad.mit.edu 37 14 21794020 21794020 + Missense_Mutation SNP G A A TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr14:21794020G>A uc001wag.3 + 15 2398 c.2398G>A c.(2398-2400)Gag>Aag p.E800K RPGRIP1_uc001wah.3_Missense_Mutation_p.E442K|RPGRIP1_uc001wai.3_Intron|RPGRIP1_uc001wak.3_Missense_Mutation_p.E275K|RPGRIP1_uc010aim.3_Missense_Mutation_p.E183K|RPGRIP1_uc001wal.3_Missense_Mutation_p.E159K|RPGRIP1_uc001wam.3_Missense_Mutation_p.E117K NM_020366 NP_065099 Q96KN7 RPGR1_HUMAN Homo sapiens retinitis pigmentosa GTPase regulator interacting protein 1 (RPGRIP1), mRNA. 800 response to stimulus|visual perception cilium breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1) 39 all_cancers(95;0.0017) all_cancers(140;0.0973) Epithelial(56;6.24e-07)|all cancers(55;6.56e-06) GBM - Glioblastoma multiforme(265;0.00888) ACCTCAGAACGAGCTGTGGAT 0.502000 39 27 0 0 1 0 0 ZNF679 168417 broad.mit.edu 37 7 63726438 63726438 + Missense_Mutation SNP G A A TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr7:63726438G>A uc003tsx.3 + 4 696 c.427G>A c.(427-429)Gaa>Aaa p.E143K NM_153363 NP_699194 Q8IYX0 ZN679_HUMAN Homo sapiens zinc finger protein 679 (ZNF679), mRNA. 143 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(3)|lung(11)|skin(1)|stomach(1) 18 AGGTTGTAATGAAGTTAACCA 0.333000 7 12 0 0 1 0 0 EPHB4 2050 broad.mit.edu 37 7 100403136 100403137 + Missense_Mutation DNP GG AA AA TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr7:100403136_100403137GG>AA uc003uwn.1 - 14 3155_3156 c.2664_2665CC>TT c.(2662-2667)gcccgg>gcTTgg p.R889W EPHB4_uc003uwm.1_Missense_Mutation_p.R796W|EPHB4_uc010lhj.1_Missense_Mutation_p.R889W NM_004444 NP_004435 P54760 EPHB4_HUMAN Homo sapiens EPH receptor B4 (EPHB4), mRNA. 889 Protein kinase. R -> W (in a gastric adenocarcinoma sample; somatic mutation). cell proliferation|organ morphogenesis|regulation of angiogenesis cell surface|integral to plasma membrane ATP binding|ephrin receptor activity p.R889W(2) breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3) 47 Lung NSC(181;0.041)|all_lung(186;0.0581) CCATTCTCCCGGGCCACGATTT 0.634000 80 72 0 0 1 0 0 DNAH6 1768 broad.mit.edu 37 2 84811225 84811225 + Missense_Mutation SNP A G G TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr2:84811225A>G uc010fgb.3 + 14 2469 c.2332A>G c.(2332-2334)Act>Gct p.T778A DNAH6_uc002soo.3_Missense_Mutation_p.T357A|DNAH6_uc002sop.3_Missense_Mutation_p.T357A NM_001370 NP_001361 Q9C0G6 DYH6_HUMAN Homo sapiens dynein, axonemal, heavy chain 6 (DNAH6), mRNA. 778 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity NS(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 57 TGTTTTTGCAACTATGAAGCC 0.408000 71 39 0 0 1 0 0 RAP1GAP2 23108 broad.mit.edu 37 17 2699828 2699828 + Missense_Mutation SNP G A A TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr17:2699828G>A uc010ckd.3 + 0 97 c.7G>A c.(7-9)Ggc>Agc p.G3S RAP1GAP2_uc010cke.3_Missense_Mutation_p.G3S NM_015085 NP_055900 Q684P5 RPGP2_HUMAN Homo sapiens RAP1 GTPase activating protein 2 (RAP1GAP2), transcript variant 1, mRNA. 3 regulation of small GTPase mediated signal transduction centrosome|cytosol|perinuclear region of cytoplasm GTPase activator activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1) 11 AACCATGTTTGGCCGGAAGCG 0.622000 4 7 0 0 1 0 0 MS4A10 341116 broad.mit.edu 37 11 60565956 60565956 + Nonsense_Mutation SNP C T T TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr11:60565956C>T uc001npz.1 + 6 787 c.691C>T c.(691-693)Caa>Taa p.Q231* NM_206893 NP_996776 Q96PG2 M4A10_HUMAN Homo sapiens membrane-spanning 4-domains, subfamily A, member 10 (MS4A10), mRNA. 231 integral to membrane receptor activity endometrium(1)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|skin(2) 21 GAGTGTGATTCAAGGCGACGC 0.547000 85 85 0 0 1 0 0 RARG 5916 broad.mit.edu 37 12 53607979 53607979 + Missense_Mutation SNP A C C TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr12:53607979A>C uc001scf.3 - 6 1169 c.677T>G c.(676-678)cTg>cGg p.L226R RARG_uc001scd.3_Missense_Mutation_p.L215R|RARG_uc010sob.2_Missense_Mutation_p.L204R|RARG_uc001scg.3_Missense_Mutation_p.L154R|RARG_uc010soc.2_Missense_Mutation_p.L105R|RARG_uc001sce.3_Missense_Mutation_p.L226R|RARG_uc010sod.2_Missense_Mutation_p.L263R NM_000966 NP_001230660 P13631 RARG_HUMAN Homo sapiens retinoic acid receptor, gamma (RARG), transcript variant 1, mRNA. 226 Ligand-binding. canonical Wnt receptor signaling pathway|embryonic eye morphogenesis|embryonic hindlimb morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter|regulation of cell size|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid integral to membrane|transcription factor complex retinoic acid receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding breast(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tazarotene(DB00799)|Tretinoin(DB00755) CTTGTCCCACAGCCCCAGATC 0.587000 97 105 0 0 1 0 0 OR8S1 341568 broad.mit.edu 37 12 48920207 48920208 + Missense_Mutation DNP GG AA AA TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr12:48920207_48920208GG>AA uc010slu.2 + 0 793_794 c.793_794GG>AA c.(793-795)ggt>AAt p.G265N NM_001005203 NP_001005203 Q8NH09 OR8S1_HUMAN Homo sapiens olfactory receptor, family 8, subfamily S, member 1 (OR8S1), mRNA. 265 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|skin(4) 22 GCCAAACTCAGGTTCCCCCATA 0.500000 59 47 0 0 1 0 0 NQO2 4835 broad.mit.edu 37 6 3015827 3015827 + Nonsense_Mutation SNP C T T TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr6:3015827C>T uc003mus.2 + 4 705 c.367C>T c.(367-369)Cag>Tag p.Q123* NQO2_uc003mup.1_3'UTR|NQO2_uc003mut.2_Nonsense_Mutation_p.Q123* NM_000904 NP_000895 P16083 NQO2_HUMAN Homo sapiens NAD(P)H dehydrogenase, quinone 2 (NQO2), mRNA. 123 cytoplasm|nucleus NADPH dehydrogenase (quinone) activity|coenzyme binding|dihydronicotinamide riboside quinone reductase activity|electron carrier activity|metal ion binding endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1) 7 Ovarian(93;0.0412) all_hematologic(90;0.0895) Menadione(DB00170)|NADH(DB00157) GGTGCTGTGCCAGGGCTTTGC 0.552000 42 37 0 0 1 0 0 POR 5447 broad.mit.edu 37 7 75583369 75583370 + Missense_Mutation DNP CC TT TT TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr7:75583369_75583370CC>TT uc003udy.3 + 1 141_142 c.59_60CC>TT c.(58-60)gcc>gTT p.A20V NM_000941 NP_000932 P16435 NCPR_HUMAN Homo sapiens P450 (cytochrome) oxidoreductase (POR), mRNA. 17 cellular organofluorine metabolic process|positive regulation of monooxygenase activity endoplasmic reticulum membrane NADPH-hemoprotein reductase activity|iron ion binding central_nervous_system(1)|endometrium(2)|kidney(2)|lung(3)|ovary(1) 9 Benzphetamine(DB00865)|Daunorubicin(DB00694)|Lipoic Acid(DB00166)|Menadione(DB00170)|Methoxyflurane(DB01028)|Mitomycin(DB00305)|Nilutamide(DB00665) GAGGCGGTGGCCGAAGAAGTAT 0.495000 10 11 0 0 1 0 0 KIAA2022 340533 broad.mit.edu 37 X 73963413 73963413 + Missense_Mutation SNP G A A TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chrX:73963413G>A uc004eby.3 - 2 1596 c.979C>T c.(979-981)Ctt>Ttt p.L327F NM_001008537 NP_001008537 Q5QGS0 K2022_HUMAN Homo sapiens KIAA2022 (KIAA2022), mRNA. 327 DNA replication proofreading|DNA replication, removal of RNA primer|S phase of mitotic cell cycle|base-excision repair, gap-filling|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle delta DNA polymerase complex 3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3) 109 TGCATCAAAAGAGTAGTCTTG 0.453000 4 50 0 0 1 0 0 TRANK1 9881 broad.mit.edu 37 3 36874735 36874735 + Silent SNP G A A TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr3:36874735G>A uc003cgj.3 - 20 6455 c.6207C>T c.(6205-6207)tgC>tgT p.C2069C NM_014831 NP_055646 O15050 TRNK1_HUMAN Homo sapiens tetratricopeptide repeat and ankyrin repeat containing 1 (TRANK1), mRNA. 2069 DNA repair ATP binding|ATP-dependent DNA helicase activity|DNA binding NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 73 AAAACTCAAAGCAAGATTTGA 0.468000 36 24 0 0 1 0 0 ABHD16A 7920 broad.mit.edu 37 6 31656529 31656529 + Silent SNP G A A TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr6:31656529G>A uc003nvy.2 - 13 1300 c.1221C>T c.(1219-1221)ctC>ctT p.L407L ABHD16A_uc003nvx.2_Silent_p.L188L|ABHD16A_uc011dny.2_Silent_p.L374L|ABHD16A_uc010jtc.2_Silent_p.L188L|ABHD16A_uc011dnz.2_Silent_p.L188L NM_021160 NP_066983 O95870 ABHGA_HUMAN Homo sapiens abhydrolase domain containing 16A (ABHD16A), transcript variant 1, mRNA. 407 integral to membrane hydrolase activity|protein binding endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1) 10 TGTTTAGATTGAGATGCTGCC 0.592000 48 32 0 0 1 0 0 EAF2 55840 broad.mit.edu 37 3 121575953 121575953 + Missense_Mutation SNP C T T TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr3:121575953C>T uc003een.3 + 3 533 c.434C>T c.(433-435)cCa>cTa p.P145L EAF2_uc003eeo.3_Missense_Mutation_p.P15L NM_018456 NP_060926 Q96CJ1 EAF2_HUMAN Homo sapiens ELL associated factor 2 (EAF2), mRNA. 145 apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear speck protein binding endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|prostate(1) 9 GBM - Glioblastoma multiforme(114;0.0972) AAACATTCTCCATCTGAAGAT 0.353000 31 28 0 0 1 0 0 SLC24A1 9187 broad.mit.edu 37 15 65917410 65917410 + Missense_Mutation SNP G A A TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr15:65917410G>A uc010ujf.2 + 1 1279 c.992G>A c.(991-993)aGc>aAc p.S331N SLC24A1_uc010ujd.1_Missense_Mutation_p.S331N|SLC24A1_uc010uje.1_Missense_Mutation_p.S331N|SLC24A1_uc010ujg.2_Missense_Mutation_p.S331N|SLC24A1_uc010ujh.2_Missense_Mutation_p.S331N NM_004727 NP_004718 O60721 NCKX1_HUMAN Homo sapiens solute carrier family 24 (sodium/potassium/calcium exchanger), member 1 (SLC24A1), transcript variant 1, mRNA. 331 response to light intensity|visual perception integral to plasma membrane|membrane fraction|outer membrane calcium, potassium:sodium antiporter activity|protein binding|symporter activity breast(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 23 ATGACAGGCAGCAGCCCAGCA 0.552000 59 71 0 0 1 0 0 CHRM2 1129 broad.mit.edu 37 7 136699960 136699960 + Silent SNP C T T TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr7:136699960C>T uc003vtf.1 + 3 971 c.348C>T c.(346-348)atC>atT p.I116I CHRM2_uc003vtg.1_Silent_p.I116I|CHRM2_uc003vti.1_Silent_p.I116I|CHRM2_uc003vtm.1_Silent_p.I116I|CHRM2_uc003vtj.1_Silent_p.I116I|CHRM2_uc003vtk.1_Silent_p.I116I|CHRM2_uc003vtl.1_Silent_p.I116I|CHRM2_uc003vtn.1_Silent_p.I116I|CHRM2_uc003vto.1_Silent_p.I116I|AK097470_uc003vtp.1_Intron|CHRM2_uc022ame.1_Silent_p.I116I NM_001006630 NP_001006633 P08172 ACM2_HUMAN Homo sapiens cholinergic receptor, muscarinic 2 (CHRM2), transcript variant 1, mRNA. 116 G-protein signaling, coupled to cAMP nucleotide second messenger|activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|nervous system development|regulation of heart contraction|response to virus cell junction|integral to plasma membrane|postsynaptic membrane muscarinic acetylcholine receptor activity|protein binding central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 68 Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508) ATCTGCTCATCATCAGCTTTG 0.502000 92 65 0 0 1 0 0 HMSD 284293 broad.mit.edu 37 18 61627405 61627405 + Missense_Mutation SNP C T T TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr18:61627405C>T uc010dqj.3 + 3 385 c.236C>T c.(235-237)tCc>tTc p.S79F SERPINB8_uc002ljs.1_5'Flank NM_001123366 NP_001116838 A8MTL9 HMSD_HUMAN Homo sapiens histocompatibility (minor) serpin domain containing (HMSD), mRNA. 79 extracellular region serine-type endopeptidase inhibitor activity kidney(1)|large_intestine(2)|lung(2)|stomach(1) 6 TTTACAGATTCCTGTGGCAAA 0.378000 27 16 0 0 1 0 0 C1orf114 57821 broad.mit.edu 37 1 169388366 169388366 + Missense_Mutation SNP T C C TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr1:169388366T>C uc001gga.1 - 3 1268 c.1100A>G c.(1099-1101)gAa>gGa p.E367G C1orf114_uc001gfz.1_Missense_Mutation_p.E367G|C1orf114_uc009wvq.1_Missense_Mutation_p.E367G|C1orf114_uc001ggb.3_Missense_Mutation_p.E367G NM_021179 NP_067002 Q5TID7 CA114_HUMAN Homo sapiens chromosome 1 open reading frame 114 (C1orf114), mRNA. 367 endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)|skin(3) 22 all_hematologic(923;0.208) TCTCTTTTTTTCTTTCTCTTC 0.328000 30 12 0 0 1 0 0 RYR3 6263 broad.mit.edu 37 15 33876638 33876638 + Missense_Mutation SNP C T T TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr15:33876638C>T uc001zhi.3 + 14 1686 c.1616C>T c.(1615-1617)tCc>tTc p.S539F RYR3_uc010bar.3_Missense_Mutation_p.S539F NM_001036 NP_001027 Q15413 RYR3_HUMAN Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA. 539 cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3) 311 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) GCTCAATTCTCCAATAACCTT 0.393000 15 9 0 0 1 0 0 FAM188A 80013 broad.mit.edu 37 10 15879309 15879309 + Missense_Mutation SNP G A A TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr10:15879309G>A uc001iod.1 - 5 691 c.470C>T c.(469-471)tCg>tTg p.S157L FAM188A_uc001ioe.1_5'UTR NM_024948 NP_079224 Q9H8M7 F188A_HUMAN Homo sapiens family with sequence similarity 188, member A (FAM188A), mRNA. 157 apoptosis nucleus calcium ion binding breast(2)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|skin(2) 22 ACTTCTGAACGATCTTTTTCT 0.289000 51 40 0 0 1 0 0 ECE1 1889 broad.mit.edu 37 1 21573804 21573804 + Missense_Mutation SNP G A A TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr1:21573804G>A uc001bek.2 - 8 1148 c.1073C>T c.(1072-1074)cCc>cTc p.P358L ECE1_uc001bem.2_Missense_Mutation_p.P342L|ECE1_uc001bej.2_Missense_Mutation_p.P346L|ECE1_uc001bei.2_Missense_Mutation_p.P355L|ECE1_uc010odl.1_Missense_Mutation_p.P358L|ECE1_uc009vqa.1_Missense_Mutation_p.P358L NM_001397 NP_001388 P42892 ECE1_HUMAN Homo sapiens endothelin converting enzyme 1 (ECE1), transcript variant 1, mRNA. 358 bradykinin catabolic process|calcitonin catabolic process|ear development|embryonic digit morphogenesis|endothelin maturation|heart development|positive regulation of receptor recycling|substance P catabolic process Weibel-Palade body|early endosome|external side of plasma membrane|integral to membrane|intrinsic to endosome membrane|membrane fraction|perinuclear region of cytoplasm|plasma membrane metal ion binding|metalloendopeptidase activity|protein homodimerization activity endometrium(5)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1) 25 Lung NSC(340;1.14e-05)|all_lung(284;1.23e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00147)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0183)|OV - Ovarian serous cystadenocarcinoma(117;4.83e-27)|COAD - Colon adenocarcinoma(152;1.36e-06)|GBM - Glioblastoma multiforme(114;1.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000162)|STAD - Stomach adenocarcinoma(196;0.00326)|KIRC - Kidney renal clear cell carcinoma(1967;0.00755)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.206) GATCTCCACGGGGTAGAAGAT 0.522000 68 52 0 0 1 0 0 SLC22A13 9390 broad.mit.edu 37 3 38307645 38307645 + Silent SNP C T T TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr3:38307645C>T uc003chz.3 + 0 348 c.294C>T c.(292-294)atC>atT p.I98I SLC22A13_uc011aym.1_Non-coding_Transcript|SLC22A13_uc011ayn.1_Silent_p.I98I NM_004256 NP_004247 Q9Y226 S22AD_HUMAN Homo sapiens solute carrier family 22 (organic anion transporter), member 13 (SLC22A13), mRNA. 98 integral to plasma membrane organic cation transmembrane transporter activity cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|urinary_tract(1) 20 KIRC - Kidney renal clear cell carcinoma(284;0.0533)|Kidney(284;0.067) TGCAGGACATCCTCAGCCACC 0.587000 38 48 0 0 1 0 0 HDAC9 9734 broad.mit.edu 37 7 18801871 18801871 + Missense_Mutation SNP G A A TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr7:18801871G>A uc003sui.3 + 13 2176 c.2135G>A c.(2134-2136)gGa>gAa p.G712E HDAC9_uc003sue.3_Missense_Mutation_p.G709E|HDAC9_uc011jyd.2_Missense_Mutation_p.G709E|HDAC9_uc003suh.3_Missense_Mutation_p.G709E|HDAC9_uc003suj.3_Missense_Mutation_p.G668E|HDAC9_uc003sua.1_Missense_Mutation_p.G687E NM_178425 NP_848512 Q9UKV0 HDAC9_HUMAN Homo sapiens histone deacetylase 9 (HDAC9), transcript variant 5, mRNA. 709 Histone deacetylase. B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 82 all_lung(11;0.187) Valproic Acid(DB00313) CCCCTGGACGGACAGAAGCTG 0.512000 30 17 0 0 1 0 0 ZNF521 25925 broad.mit.edu 37 18 22804495 22804495 + Silent SNP C A A TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr18:22804495C>A uc002kvk.2 - 3 3634 c.3387G>T c.(3385-3387)ggG>ggT p.G1129G ZNF521_uc010xbe.1_Non-coding_Transcript|ZNF521_uc010dly.2_Silent_p.G1129G|ZNF521_uc002kvl.2_Silent_p.G909G NM_015461 NP_056276 Q96K83 ZN521_HUMAN Homo sapiens zinc finger protein 521 (ZNF521), mRNA. 1129 cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein domain specific binding|zinc ion binding NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 149 all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991) CCTTGCCTTTCCCCTCAATGG 0.542000 T PAX5 ALL 44 55 8.99859e-20 9.10459e-20 1 1 0 RABEP1 9135 broad.mit.edu 37 17 5286422 5286422 + Silent SNP G A A TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr17:5286422G>A uc002gbm.4 + 17 2717 c.2493G>A c.(2491-2493)caG>caA p.Q831Q RABEP1_uc010vsw.1_Silent_p.Q788Q|RABEP1_uc002gbl.4_Silent_p.Q798Q|NUP88_uc002gbn.3_Intron NM_004703 NP_004694 Q15276 RABE1_HUMAN Homo sapiens rabaptin, RAB GTPase binding effector protein 1 (RABEP1), transcript variant 1, mRNA. 831 apoptosis|cellular membrane fusion|endocytosis|protein transport centrosome|early endosome|endocytic vesicle|recycling endosome GTPase activator activity|growth factor activity|protein homodimerization activity p.V830V(1) NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1) 8 TCCAGGTGCAGTTAGAGCGGA 0.463000 59 39 0 0 1 0 0 ENAM 10117 broad.mit.edu 37 4 71508043 71508043 + Silent SNP G A A TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr4:71508043G>A uc011caw.1 + 8 1181 c.900G>A c.(898-900)caG>caA p.Q300Q NM_031889 NP_114095 Q9NRM1 ENAM_HUMAN Homo sapiens enamelin (ENAM), mRNA. 300 bone mineralization|odontogenesis proteinaceous extracellular matrix structural constituent of tooth enamel haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2) 6 Lung(101;0.235) CTTCAGGCCAGGGAGGGCCAG 0.493000 80 55 0 0 1 0 0 TF 7018 broad.mit.edu 37 3 133483724 133483724 + Missense_Mutation SNP G A A TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr3:133483724G>A uc003epu.2 + 15 3031 c.1303G>A c.(1303-1305)Gat>Aat p.D435N TF_uc011blt.2_Missense_Mutation_p.D308N|TF_uc003epw.2_Intron|TF_uc003epv.2_Missense_Mutation_p.D435N NM_001063 NP_001054 P02787 TRFE_HUMAN Homo sapiens transferrin (TF), mRNA. 435 Transferrin-like 2. cellular iron ion homeostasis|platelet activation|platelet degranulation|transferrin transport|transmembrane transport apical plasma membrane|basal plasma membrane|coated pit|early endosome|endocytic vesicle|endosome membrane|extracellular region|late endosome|perinuclear region of cytoplasm|recycling endosome|stored secretory granule ferric iron binding NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(7)|large_intestine(13)|liver(2)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 Aluminium(DB01370)|Bismuth(DB01402)|Iron Dextran(DB00893) TGCAGAGAGCGATAATTGTGA 0.358000 53 47 0 0 1 0 0 HGSNAT 138050 broad.mit.edu 37 8 43037367 43037367 + Silent SNP C T T TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr8:43037367C>T uc003xpx.4 + 10 1140 c.1092C>T c.(1090-1092)ctC>ctT p.L364L NM_152419 NP_689632 Q68CP4 HGNAT_HUMAN Homo sapiens heparan-alpha-glucosaminide N-acetyltransferase (HGSNAT), mRNA. 392 lysosomal transport|protein oligomerization integral to membrane|lysosomal membrane heparan-alpha-glucosaminide N-acetyltransferase activity cervix(1)|endometrium(2)|large_intestine(4)|lung(6) 13 Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184) all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129) Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17) TGTTGGAGCTCCTCTTTGCTA 0.418000 278 231 0 0 1 0 0 COL8A2 1296 broad.mit.edu 37 1 36564631 36564631 + Silent SNP C T T TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr1:36564631C>T uc001bzv.2 - 1 658 c.651G>A c.(649-651)ggG>ggA p.G217G COL8A2_uc001bzw.2_Silent_p.G152G NM_005202 NP_005193 P25067 CO8A2_HUMAN Homo sapiens collagen, type VIII, alpha 2 (COL8A2), mRNA. 217 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) GCCCTGGGGCCCCAGGCAGCC 0.721000 21 12 0 0 1 0 0 SLC39A10 57181 broad.mit.edu 37 2 196592924 196592924 + Nonsense_Mutation SNP C T T TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr2:196592924C>T uc002utg.4 + 8 2402 c.2188C>T c.(2188-2190)Caa>Taa p.Q730* SLC39A10_uc002uth.4_Nonsense_Mutation_p.Q730*|SLC39A10_uc010zgp.2_Nonsense_Mutation_p.Q280* NM_001127257 NP_065075 Q9ULF5 S39AA_HUMAN Homo sapiens solute carrier family 39 (zinc transporter), member 10 (SLC39A10), transcript variant 1, mRNA. 730 zinc ion transport integral to membrane metal ion transmembrane transporter activity breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(16)|pancreas(1)|prostate(1)|skin(2) 34 OV - Ovarian serous cystadenocarcinoma(117;0.221) GACTGTAAAGCAAGCAATTGT 0.393000 63 51 0 0 1 0 0 BAIAP2 10458 broad.mit.edu 37 17 79031757 79031757 + Silent SNP C T T TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr17:79031757C>T uc002jzg.2 + 2 315 c.207C>T c.(205-207)tcC>tcT p.S69S BAIAP2_uc002jyz.4_Silent_p.S69S|BAIAP2_uc002jza.2_Silent_p.S69S|BAIAP2_uc002jzc.2_Silent_p.S69S|BAIAP2_uc002jzb.2_5'UTR|BAIAP2_uc010wuh.1_Intron|BAIAP2_uc002jzd.2_Silent_p.S69S|BAIAP2_uc002jzf.2_Silent_p.S69S|BAIAP2_uc002jze.2_Silent_p.S102S NM_017451 NP_059345 Q9UQB8 BAIP2_HUMAN Homo sapiens BAI1-associated protein 2 (BAIAP2), transcript variant 2, mRNA. 69 IMD. axonogenesis|filopodium assembly|insulin receptor signaling pathway|regulation of actin cytoskeleton organization|response to bacterium cell junction|cytoskeleton|cytosol|filopodium|nucleus|ruffle SH3 domain binding|cytoskeletal adaptor activity|proline-rich region binding|protein C-terminus binding breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1) 18 all_neural(118;0.101) BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524) GCCAGGGCTCCAAAGAACTCG 0.622000 10 12 0 0 1 0 0 MYOZ1 58529 broad.mit.edu 37 10 75391900 75391900 + Missense_Mutation SNP C T T TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr10:75391900C>T uc001jur.3 - 5 1053 c.688G>A c.(688-690)Gga>Aga p.G230R NM_021245 NP_067068 Q9NP98 MYOZ1_HUMAN Homo sapiens myozenin 1 (MYOZ1), mRNA. 230 myofibril assembly nucleus|pseudopodium FATZ binding central_nervous_system(1)|large_intestine(5)|lung(2)|ovary(2)|skin(2) 12 Prostate(51;0.0112) TTCTCATATCCACCATAGGGC 0.473000 61 34 0 0 1 0 0 OR4C46 119749 broad.mit.edu 37 11 51515336 51515337 + Missense_Mutation DNP CC TT TT TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr11:51515336_51515337CC>TT uc010ric.2 + 0 55_56 c.55_56CC>TT c.(55-57)cca>TTa p.P19L NM_001004703 NP_001004703 A6NHA9 O4C46_HUMAN Homo sapiens olfactory receptor, family 4, subfamily C, member 46 (OR4C46), mRNA. 19 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1) 48 TACAGAGAATCCAAAGATGCAG 0.361000 78 42 0 0 1 0 0 ZNF423 23090 broad.mit.edu 37 16 49671389 49671390 + Missense_Mutation DNP GG AA AA TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr16:49671389_49671390GG>AA uc002efs.3 - 4 1971_1972 c.1673_1674CC>TT c.(1672-1674)tcc>tTT p.S558F ZNF423_uc010vgn.2_Missense_Mutation_p.S441F NM_015069 NP_055884 Q2M1K9 ZN423_HUMAN Homo sapiens zinc finger protein 423 (ZNF423), mRNA. 558 cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2) 89 all_cancers(37;0.0155) CCTCCATGAAGGACTGCGTGGG 0.559000 81 60 0 0 1 0 0 LZTR1 8216 broad.mit.edu 37 22 21344742 21344742 + Missense_Mutation SNP T A A TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr22:21344742T>A uc002zto.3 + 7 822 c.719T>A c.(718-720)aTg>aAg p.M240K LZTR1_uc002ztn.3_Missense_Mutation_p.M199K|LZTR1_uc011ahy.2_Missense_Mutation_p.M221K|LZTR1_uc010gsr.1_Missense_Mutation_p.M111K NM_006767 NP_006758 Q8N653 LZTR1_HUMAN Homo sapiens leucine-zipper-like transcription regulator 1 (LZTR1), mRNA. 240 anatomical structure morphogenesis sequence-specific DNA binding transcription factor activity breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3) 42 all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195) CGGGACAAGATGTTTGTATTC 0.577000 81 5 0 0 1 0 0 ZFP42 132625 broad.mit.edu 37 4 188924561 188924561 + Silent SNP G A A TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr4:188924561G>A uc003izh.1 + 3 1008 c.600G>A c.(598-600)agG>agA p.R200R ZFP42_uc003izi.1_Silent_p.R200R|ZFP42_uc021xvm.1_Silent_p.R200R NM_174900 NP_777560 Q96MM3 ZFP42_HUMAN Homo sapiens zinc finger protein 42 homolog (mouse) (ZFP42), mRNA. 200 female gonad development|male gonad development|meiosis cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|stomach(1) 27 all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227) OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157) GGAAGTTGAGGAATAGAGCTG 0.483000 117 83 0 0 1 0 0 GCNT1 2650 broad.mit.edu 37 9 79117387 79117387 + Silent SNP C T T TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr9:79117387C>T uc022bif.1 + 0 90 c.90C>T c.(88-90)tcC>tcT p.S30S GCNT1_uc010mpf.3_Silent_p.S30S|GCNT1_uc010mpg.3_Silent_p.S30S|GCNT1_uc010mph.3_Silent_p.S30S|GCNT1_uc004akf.4_Silent_p.S30S|GCNT1_uc010mpi.3_Silent_p.S30S|GCNT1_uc004akh.4_Silent_p.S30S NM_001490 NP_001481 Q02742 GCNT1_HUMAN Homo sapiens glucosaminyl (N-acetyl) transferase 1, core 2 (GCNT1), transcript variant 2, mRNA. 30 protein O-linked glycosylation Golgi membrane|integral to membrane beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(11)|prostate(2)|urinary_tract(1) 30 TCACCTTCTCCGTTTTAAGGA 0.383000 4 39 0 0 1 0 0 TRANK1 9881 broad.mit.edu 37 3 36873589 36873589 + Silent SNP C T T TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr3:36873589C>T uc003cgj.3 - 20 7601 c.7353G>A c.(7351-7353)aaG>aaA p.K2451K NM_014831 NP_055646 O15050 TRNK1_HUMAN Homo sapiens tetratricopeptide repeat and ankyrin repeat containing 1 (TRANK1), mRNA. 2451 DNA repair ATP binding|ATP-dependent DNA helicase activity|DNA binding NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 73 CCTTGTCCTTCTTGCTAAACA 0.512000 97 79 0 0 1 0 0 JAKMIP3 282973 broad.mit.edu 37 10 133931028 133931028 + Missense_Mutation SNP G A A TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr10:133931028G>A uc001lkx.4 + 1 583 c.583G>A c.(583-585)Gag>Aag p.E195K NM_001105521 NP_001098991 Homo sapiens Janus kinase and microtubule interacting protein 3 (JAKMIP3), mRNA. breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2) 31 all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175) OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224) CCTGCACCAGGAGGAGATCAC 0.672000 9 9 0 0 1 0 0 ENPEP 2028 broad.mit.edu 37 4 111470996 111470996 + Silent SNP C T T TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr4:111470996C>T uc003iab.4 + 16 2797 c.2455C>T c.(2455-2457)Ctg>Ttg p.L819L NM_001977 NP_001968 Q07075 AMPE_HUMAN Homo sapiens glutamyl aminopeptidase (aminopeptidase A) (ENPEP), mRNA. 819 cell migration|cell proliferation|cell-cell signaling|proteolysis integral to plasma membrane aminopeptidase activity|metalloexopeptidase activity|zinc ion binding breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1) 54 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.0031) L-Glutamic Acid(DB00142) AAAAGAAAAACTGCTGTATGG 0.353000 32 26 0 0 1 0 0 PDSS2 57107 broad.mit.edu 37 6 107475898 107475898 + Silent SNP G A A TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr6:107475898G>A uc003prt.2 - 7 1415 c.1125C>T c.(1123-1125)gcC>gcT p.A375A PDSS2_uc011eak.1_Silent_p.A239A|PDSS2_uc011eal.1_Silent_p.A273A NM_020381 NP_065114 Q86YH6 DLP1_HUMAN Homo sapiens prenyl (decaprenyl) diphosphate synthase, subunit 2 (PDSS2), mRNA. 375 isoprenoid biosynthetic process|ubiquinone biosynthetic process mitochondrion protein heterodimerization activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(3) 19 Breast(9;0.0127) all_cancers(87;3.63e-05)|Acute lymphoblastic leukemia(125;2.86e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.0108)|Colorectal(196;0.156)|Lung NSC(302;0.211) BRCA - Breast invasive adenocarcinoma(8;0.0101)|all cancers(7;0.243) BRCA - Breast invasive adenocarcinoma(108;0.112)|OV - Ovarian serous cystadenocarcinoma(136;0.173)|all cancers(137;0.191) AGCTCTCCAGGGCCTCCAGTG 0.433000 44 24 0 0 1 0 0 MERTK 10461 broad.mit.edu 37 2 112751971 112751971 + Silent SNP C T T TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr2:112751971C>T uc002thk.1 + 8 1562 c.1440C>T c.(1438-1440)atC>atT p.I480I MERTK_uc002thl.1_Silent_p.I304I NM_006343 NP_006334 Q12866 MERTK_HUMAN Homo sapiens c-mer proto-oncogene tyrosine kinase (MERTK), mRNA. 480 Fibronectin type-III 2. cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration integral to plasma membrane|soluble fraction ATP binding|transmembrane receptor protein tyrosine kinase activity breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10) 46 AAATATTTATCCCTGCACACG 0.527000 118 95 0 0 1 0 0 OR51L1 119682 broad.mit.edu 37 11 5020306 5020306 + Missense_Mutation SNP C T T TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr11:5020306C>T uc010qyu.2 + 0 94 c.94C>T c.(94-96)Ctc>Ttc p.L32F NM_001004755 NP_001004755 Q8NGJ5 O51L1_HUMAN Homo sapiens olfactory receptor, family 51, subfamily L, member 1 (OR51L1), mRNA. 32 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(19)|skin(2)|stomach(1) 31 Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086) Epithelial(150;1.75e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19) GCTCTCCATCCTCTTCTGTCT 0.428000 98 53 0 0 1 0 0 RTN1 6252 broad.mit.edu 37 14 60193679 60193679 + Missense_Mutation SNP G A A TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr14:60193679G>A uc001xen.1 - 2 1932 c.1723C>T c.(1723-1725)Cct>Tct p.P575S RTN1_uc001xem.1_Missense_Mutation_p.P155S NM_021136 NP_066959 Q16799 RTN1_HUMAN Homo sapiens reticulon 1 (RTN1), transcript variant 1, mRNA. 575 neuron differentiation integral to endoplasmic reticulum membrane signal transducer activity central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1) 49 OV - Ovarian serous cystadenocarcinoma(108;0.0968) GGGGCGCCAGGACCTAGAGGC 0.587000 12 16 0 0 1 0 0 OR2L8 391190 broad.mit.edu 37 1 248112944 248112944 + Missense_Mutation SNP G A A TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr1:248112944G>A uc001idt.1 + 0 785 c.785G>A c.(784-786)aGa>aAa p.R262K OR2L13_uc001ids.3_Intron NM_001001963 NP_001001963 Q8NGY9 OR2L8_HUMAN Homo sapiens olfactory receptor, family 2, subfamily L, member 8 (OR2L8), mRNA. 262 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3) 42 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0152) CTACGTCCAAGATCCCTGCGA 0.488000 143 62 0 0 1 0 0 MC2R 4158 broad.mit.edu 37 18 13885332 13885332 + Silent SNP G A A TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr18:13885332G>A uc002ksp.1 - 1 363 c.186C>T c.(184-186)ttC>ttT p.F62F MC2R_uc021uhs.1_Silent_p.F62F NM_000529 NP_000520 Q01718 ACTHR_HUMAN Homo sapiens melanocortin 2 receptor (adrenocorticotropic hormone) (MC2R), mRNA. 62 G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process integral to plasma membrane corticotropin receptor activity|protein binding breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(8)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 30 Corticotropin(DB01285)|Cosyntropin(DB01284) AGCTACAGATGAAAAAGTACA 0.408000 42 36 0 0 1 0 0 LYPD1 116372 broad.mit.edu 37 2 133403807 133403807 + Silent SNP G A A TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr2:133403807G>A uc002ttm.4 - 3 385 c.285C>T c.(283-285)atC>atT p.I95I GPR39_uc002ttl.3_3'UTR|LYPD1_uc002ttn.3_Silent_p.I79I|LYPD1_uc002tto.3_Silent_p.I27I NM_001077427 NP_001070895 Q8N2G4 LYPD1_HUMAN Homo sapiens LY6/PLAUR domain containing 1 (LYPD1), transcript variant 2, mRNA. 79 UPAR/Ly6. anchored to membrane|plasma membrane lung(2) 2 CGGCAGAGGCGATGAGACAGG 0.547000 35 17 0 0 1 0 0 LOC100101266 100101266 broad.mit.edu 37 19 24346135 24346135 + RNA SNP T G G TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr19:24346135T>G uc010edb.1 - 0 c.115A>C Homo sapiens hepatitis A virus cellular receptor 1 pseudogene (LOC100101266), non-coding RNA. AGTGGCAGGGTAGCGTGATAG 0.488000 25 6 0 0 1 0 0 ASL 435 broad.mit.edu 37 7 65552756 65552756 + Silent SNP C T T TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr7:65552756C>T uc003tup.3 + 8 931 c.696C>T c.(694-696)gcC>gcT p.A232A ASL_uc003tuo.3_Silent_p.A232A|ASL_uc003tur.3_Silent_p.A206A|ASL_uc003tuq.3_Silent_p.A232A NM_001024943 NP_001020114 P04424 ARLY_HUMAN Homo sapiens argininosuccinate lyase (ASL), transcript variant 1, mRNA. 232 arginine biosynthetic process via ornithine|arginine catabolic process|urea cycle cytosol argininosuccinate lyase activity breast(3)|endometrium(3)|large_intestine(2)|lung(9)|upper_aerodigestive_tract(1) 18 L-Arginine(DB00125) GCATGGATGCCACTAGTGAGC 0.612000 54 33 0 0 1 0 0 KIAA1109 84162 broad.mit.edu 37 4 123268917 123268917 + Missense_Mutation SNP C T T TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr4:123268917C>T uc003ieh.3 + 73 13157 c.13112C>T c.(13111-13113)tCt>tTt p.S4371F KIAA1109_uc003iem.3_Missense_Mutation_p.S727F NM_015312 NP_056127 Q2LD37 K1109_HUMAN Homo sapiens KIAA1109 (KIAA1109), mRNA. 4371 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 GTATCTGATTCTTCAGTTCCT 0.428000 43 45 0 0 1 0 0 ZNF496 84838 broad.mit.edu 37 1 247492775 247492775 + Missense_Mutation SNP G A A TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr1:247492775G>A uc009xgv.3 - 0 143 c.106C>T c.(106-108)Ccc>Tcc p.P36S ZNF496_uc001ico.3_Missense_Mutation_p.P36S|ZNF496_uc010pyv.1_Missense_Mutation_p.P36S NM_032752 NP_116141 Q96IT1 ZN496_HUMAN Homo sapiens zinc finger protein 496 (ZNF496), mRNA. 36 positive regulation of transcription, DNA-dependent|viral reproduction DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 36 all_cancers(71;0.000136)|all_epithelial(71;2.62e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661) OV - Ovarian serous cystadenocarcinoma(106;0.00703) TCGGGGCTGGGAAGCTCCCCC 0.697000 143 80 0 0 1 0 0 FAM75C1 441452 broad.mit.edu 37 9 90536629 90536629 + Missense_Mutation SNP C G G TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr9:90536629C>G uc010mqi.3 + 3 1836 c.1807C>G c.(1807-1809)Cgt>Ggt p.R603G FAM75C1_uc004apq.4_Missense_Mutation_p.R586G NM_001145124 NP_001138596 Homo sapiens family with sequence similarity 75, member C1 (FAM75C1), mRNA. CGTGAGTGTGCGTCGATCCTG 0.507000 170 11 0 0 1 0 0 FCRL3 115352 broad.mit.edu 37 1 157666952 157666952 + Silent SNP C T T TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr1:157666952C>T uc001fqz.4 - 5 1114 c.822G>A c.(820-822)ctG>ctA p.L274L FCRL3_uc001fqx.4_Non-coding_Transcript|FCRL3_uc001fqy.4_Non-coding_Transcript|FCRL3_uc009wsn.3_Intron|FCRL3_uc009wso.3_Non-coding_Transcript|FCRL3_uc001fra.3_5'UTR|FCRL3_uc001frb.3_Silent_p.L274L|FCRL3_uc001frc.1_Silent_p.L274L NM_052939 NP_443171 Q96P31 FCRL3_HUMAN Homo sapiens Fc receptor-like 3 (FCRL3), mRNA. 274 integral to membrane|plasma membrane receptor activity autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2) 69 all_hematologic(112;0.0378) TCTGAGATCTCAGGCTCCTTT 0.542000 75 60 0 0 1 0 0 DEPTOR 64798 broad.mit.edu 37 8 121013890 121013890 + Missense_Mutation SNP G A A TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr8:121013890G>A uc003yow.4 + 4 918 c.731G>A c.(730-732)aGt>aAt p.S244N DEPTOR_uc011lid.2_Missense_Mutation_p.S143N NM_022783 NP_073620 Q8TB45 DPTOR_HUMAN Homo sapiens DEP domain containing MTOR-interacting protein (DEPTOR), mRNA. 244 Ser-rich. intracellular signal transduction|negative regulation of TOR signaling cascade|negative regulation of cell size|negative regulation of protein kinase activity|regulation of apoptosis intracellular protein binding endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(3)|skin(1)|upper_aerodigestive_tract(2) 18 ACTCATGACAGTCCCTTCTGC 0.498000 48 37 0 0 1 0 0 DDN 23109 broad.mit.edu 37 12 49391192 49391192 + Silent SNP G A A TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr12:49391192G>A uc001rsv.1 - 1 1485 c.1467C>T c.(1465-1467)tcC>tcT p.S489S NM_015086 NP_055901 O94850 DEND_HUMAN Homo sapiens dendrin (DDN), mRNA. 489 Interaction with CD2AP and NPHS1 (By similarity). dendritic spine membrane|endoplasmic reticulum membrane|nucleus|perikaryon NS(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1) 8 ATTGGCTGGGGGAATCCCCCA 0.607000 49 36 0 0 1 0 0 PSMB6 5694 broad.mit.edu 37 17 4701364 4701365 + Missense_Mutation DNP GG AA AA TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr17:4701364_4701365GG>AA uc002fzb.3 + 4 526_527 c.493_494GG>AA c.(493-495)ggg>AAg p.G165K NM_002798 NP_002789 P28072 PSB6_HUMAN Homo sapiens proteasome (prosome, macropain) subunit, beta type, 6 (PSMB6), mRNA. 165 DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|interspecies interaction between organisms|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|viral reproduction cytoplasm|nucleus|proteasome core complex threonine-type endopeptidase activity endometrium(3)|large_intestine(3)|lung(2)|ovary(2)|prostate(1) 11 TGGAGGCTCCGGGAGCTCCTAC 0.530000 115 97 0 0 1 0 0 OTOGL 283310 broad.mit.edu 37 12 80615990 80615990 + Missense_Mutation SNP G A A TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr12:80615990G>A uc001szd.3 + 5 433 c.427G>A c.(427-429)Gac>Aac p.D143N NM_173591 NP_775862 Homo sapiens otogelin-like (OTOGL), mRNA. breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1) 23 TTTTGCAAAGGACTGTGGTGA 0.368000 4 41 0 0 1 0 0 MPV17L2 84769 broad.mit.edu 37 19 18304781 18304781 + Missense_Mutation SNP C T T TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr19:18304781C>T uc010ebj.3 + 0 722 c.103C>T c.(103-105)Ctc>Ttc p.L35F MPV17L2_uc002nid.3_Missense_Mutation_p.L99F Q567V2 M17L2_HUMAN Homo sapiens MPV17 mitochondrial membrane protein-like 2 (MPV17L2), nuclear gene encoding mitochondrial protein, mRNA. 99 integral to membrane large_intestine(1)|lung(2)|urinary_tract(1) 4 CCCAAATGTCCTCAAGAAGGT 0.577000 51 33 0 0 1 0 0 SIM1 6492 broad.mit.edu 37 6 100896510 100896510 + Silent SNP C T T TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr6:100896510C>T uc003pqj.4 - 5 1055 c.588G>A c.(586-588)ctG>ctA p.L196L SIM1_uc021zdg.1_Silent_p.L196L|SIM1_uc010kcu.3_Silent_p.L196L NM_005068 NP_005059 P81133 SIM1_HUMAN Homo sapiens single-minded homolog 1 (Drosophila) (SIM1), mRNA. 196 cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5) 79 all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13) BRCA - Breast invasive adenocarcinoma(108;0.0774) GGGACATGTCCAGGCTGTACT 0.617000 49 42 0 0 1 0 0 LOC649330 649330 broad.mit.edu 37 1 12907643 12907643 + Missense_Mutation SNP C T T TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr1:12907643C>T uc010obf.2 - 1 726 c.500G>A c.(499-501)cGg>cAg p.R167Q LOC649330_uc009vno.2_Missense_Mutation_p.R167Q NM_001013631 NP_001013653 B7ZW38 B7ZW38_HUMAN Homo sapiens heterogeneous nuclear ribonucleoprotein C-like 1 (HNRNPCL1), mRNA. 167 nucleic acid binding|nucleotide binding p.R167L(1) GGAAGATCCCCGCTTTCCACT 0.483000 168 115 0 0 1 0 0 RELN 5649 broad.mit.edu 37 7 103557622 103557622 + Silent SNP T A A TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr7:103557622T>A uc022ajr.1 - 1 397 c.237A>T c.(235-237)tcA>tcT p.S79S RELN_uc022ajq.1_Silent_p.S79S|RELN_uc010liz.3_Silent_p.S79S NM_005045 NP_005036 P78509 RELN_HUMAN Homo sapiens reelin (RELN), transcript variant 1, mRNA. 79 Reelin. 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) AGGTGCTTGTTGAAATTGTCA 0.363000 31 34 0 0 1 0 0 MIDN 90007 broad.mit.edu 37 19 1254187 1254187 + Missense_Mutation SNP C T T TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr19:1254187C>T uc002lrp.3 + 4 921 c.406C>T c.(406-408)Cgt>Tgt p.R136C NM_177401 NP_796375 Q504T8 MIDN_HUMAN Homo sapiens midnolin (MIDN), mRNA. 136 nucleolus NS(1)|endometrium(3)|kidney(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1) 13 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CCTGTCGGGCCGTTCGCCACT 0.692000 17 15 0 0 1 0 0 VWA2 340706 broad.mit.edu 37 10 116045812 116045812 + Missense_Mutation SNP G A A TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr10:116045812G>A uc001lbl.1 + 10 1433 c.1112G>A c.(1111-1113)cGg>cAg p.R371Q VWA2_uc001lbk.1_Missense_Mutation_p.R371Q|VWA2_uc009xyf.1_Missense_Mutation_p.R67Q NM_198496 NP_940898 Q5GFL6 VWA2_HUMAN Homo sapiens von Willebrand factor A domain containing 2 (VWA2), mRNA. 371 VWFA 2. extracellular region central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1) 26 Epithelial(162;0.036)|all cancers(201;0.0793) CGGTTTGTGCGGGCCGTGCTG 0.652000 145 124 0 0 1 0 0 CCDC33 80125 broad.mit.edu 37 15 74565197 74565197 + Missense_Mutation SNP G A A TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr15:74565197G>A uc002axo.3 + 6 1118 c.724G>A c.(724-726)Gac>Aac p.D242N CCDC33_uc002axp.3_Missense_Mutation_p.D64N NM_025055 NP_079331 Q8N5R6 CCD33_HUMAN Homo sapiens coiled-coil domain containing 33 (CCDC33), transcript variant 1, mRNA. 445 C2. protein binding breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 39 GATGAACTTTGACGTGCCTCG 0.592000 68 63 0 0 1 0 0 C5orf34 375444 broad.mit.edu 37 5 43503849 43503849 + Missense_Mutation SNP C T T TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr5:43503849C>T uc003jnz.2 - 4 1348 c.946G>A c.(946-948)Gat>Aat p.D316N NM_198566 NP_940968 Q96MH7 CE034_HUMAN Homo sapiens chromosome 5 open reading frame 34 (C5orf34), mRNA. 316 breast(2)|endometrium(2)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|stomach(2) 21 Lung NSC(6;2.07e-05) AAAAGTGAATCACAAAAATTC 0.348000 38 35 0 0 1 0 0 AGXT2L1 64850 broad.mit.edu 37 4 109670554 109670554 + Missense_Mutation SNP C T T TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr4:109670554C>T uc003hzc.3 - 7 948 c.767G>A c.(766-768)gGg>gAg p.G256E AGXT2L1_uc010imc.3_Missense_Mutation_p.G250E|AGXT2L1_uc011cfm.2_Missense_Mutation_p.G216E|AGXT2L1_uc011cfn.2_Missense_Mutation_p.G183E|AGXT2L1_uc011cfo.2_Missense_Mutation_p.G198E NM_031279 NP_112569 Q8TBG4 AT2L1_HUMAN Homo sapiens alanine-glyoxylate aminotransferase 2-like 1 (AGXT2L1), transcript variant 1, mRNA. 256 cellular amino acid metabolic process mitochondrion alanine-glyoxylate transaminase activity|pyridoxal phosphate binding autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(1) 25 OV - Ovarian serous cystadenocarcinoma(123;0.000281) GAAATGTTTCCCAACTCTGCC 0.498000 82 51 0 0 1 0 0 C1orf159 54991 broad.mit.edu 37 1 1019419 1019419 + Silent SNP G A A TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr1:1019419G>A uc001act.2 - 10 1410 c.924C>T c.(922-924)ccC>ccT p.P308P C1orf159_uc001acu.2_Intron|C1orf159_uc001acr.2_Non-coding_Transcript|C1orf159_uc001acs.2_Non-coding_Transcript|C1orf159_uc010nyd.1_Non-coding_Transcript|C1orf159_uc001acn.2_Silent_p.P272P NM_017891 NP_060361 Q96HA4 CA159_HUMAN Homo sapiens chromosome 1 open reading frame 159 (C1orf159), mRNA. 308 integral to membrane all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-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)|Lung SC(97;0.128) Epithelial(90;2.96e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.77e-22)|Colorectal(212;6.51e-05)|COAD - Colon adenocarcinoma(227;0.000214)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|Kidney(185;0.00254)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205) GCAGGTATTGGGGGTCTGCCC 0.642000 13 13 0 0 1 0 0 SIGLEC5 8778 broad.mit.edu 37 19 52130747 52130747 + Missense_Mutation SNP C T T TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr19:52130747C>T uc002pxe.3 - 5 1389 c.1250G>A c.(1249-1251)gGg>gAg p.G417E NM_003830 NP_003821 O15389 SIGL5_HUMAN Homo sapiens sialic acid binding Ig-like lectin 5 (SIGLEC5), mRNA. 417 cell adhesion integral to membrane sugar binding p.G417V(2) NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(9)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 27 all_neural(266;0.0726) GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0218) GCTCTGGGACCCATAGATGTT 0.637000 125 107 0 0 1 0 0 TOR2A 27433 broad.mit.edu 37 9 130495726 130495726 + Silent SNP G A A TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr9:130495726G>A uc004brs.4 - 2 610 c.531C>T c.(529-531)ttC>ttT p.F177F TOR2A_uc022bnq.1_Silent_p.F15F|TOR2A_uc004bru.4_Silent_p.F15F|TOR2A_uc004brv.4_3'UTR|TOR2A_uc011maj.2_3'UTR|TOR2A_uc004brt.4_Silent_p.F177F|TOR2A_uc004brw.4_Silent_p.F177F NM_001085347 NP_001078816 Q5JU69 TOR2A_HUMAN Homo sapiens torsin family 2, member A (TOR2A), transcript variant 1, mRNA. 177 chaperone mediated protein folding requiring cofactor endoplasmic reticulum|extracellular region ATP binding|nucleoside-triphosphatase activity NS(1)|endometrium(2) 3 AGGAGCCCAGGAAAGGCCGCA 0.617000 3 26 0 0 1 0 0 DCAF4L2 138009 broad.mit.edu 37 8 88885781 88885781 + Missense_Mutation SNP G A A TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr8:88885781G>A uc003ydz.3 - 0 516 c.419C>T c.(418-420)tCc>tTc p.S140F NM_152418 NP_689631 Q8NA75 DC4L2_HUMAN Homo sapiens DDB1 and CUL4 associated factor 4-like 2 (DCAF4L2), mRNA. 140 breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 83 CAGAAGGTGGGAATCCAAGTG 0.562000 83 67 0 0 1 0 0 USP6 9098 broad.mit.edu 37 17 5045411 5045411 + Missense_Mutation SNP G A A TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr17:5045411G>A uc002gau.1 + 23 3917 c.1687G>A c.(1687-1689)Ggg>Agg p.G563R USP6_uc002gav.1_Missense_Mutation_p.G563R|USP6_uc010ckz.1_Missense_Mutation_p.G246R NM_004505 NP_004496 P35125 UBP6_HUMAN Homo sapiens ubiquitin specific peptidase 6 (Tre-2 oncogene) (USP6), mRNA. 563 protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process lysosome|plasma membrane|recycling endosome Rab GTPase activator activity|calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 34 TTTTATCTCAGGGAGACATCT 0.428000 T """COL1A1, CDH11, ZNF9, OMD""" aneurysmal bone cysts 59 74 0 0 1 0 0 CASC1 55259 broad.mit.edu 37 12 25299953 25299953 + Missense_Mutation SNP T C C TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr12:25299953T>C uc001rgk.3 - 7 753 c.671A>G c.(670-672)aAc>aGc p.N224S CASC1_uc001rgj.3_Missense_Mutation_p.N178S|CASC1_uc001rgm.4_Missense_Mutation_p.N282S|CASC1_uc001rgl.3_Missense_Mutation_p.N218S|CASC1_uc010sje.2_Missense_Mutation_p.N159S|CASC1_uc010sjf.2_Missense_Mutation_p.N106S|CASC1_uc010sjg.1_Missense_Mutation_p.N218S NM_018272 NP_060742 Q6TDU7 CASC1_HUMAN Homo sapiens cancer susceptibility candidate 1 (CASC1), transcript variant 1, mRNA. 218 breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(3)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 31 Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Melanoma(3;0.0301)|Colorectal(261;0.11) OV - Ovarian serous cystadenocarcinoma(3;7.42e-20)|Epithelial(3;7.58e-16)|all cancers(3;1.07e-13) CTTCTTGAGGTTTGCCCACAC 0.408000 34 36 0 0 1 0 0 XIRP2 129446 broad.mit.edu 37 2 168104261 168104261 + Missense_Mutation SNP C T T TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr2:168104261C>T uc002udx.3 + 8 6448 c.6359C>T c.(6358-6360)aCc>aTc p.T2120I XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Missense_Mutation_p.T1945I|XIRP2_uc010fpq.3_Missense_Mutation_p.T1898I|XIRP2_uc010fpr.3_Intron NM_152381 NP_689594 A4UGR9 XIRP2_HUMAN Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA. 1945 Pro-rich. actin cytoskeleton organization cell junction actin binding NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 GCTGGTAAAACCGTTGGAAAG 0.353000 33 38 0 0 1 0 0 BOC 91653 broad.mit.edu 37 3 112991981 112991981 + Missense_Mutation SNP A G G TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr3:112991981A>G uc003dzx.3 + 7 1648 c.1027A>G c.(1027-1029)Acc>Gcc p.T343A BOC_uc003dzy.3_Missense_Mutation_p.T343A|BOC_uc003dzz.3_Missense_Mutation_p.T343A|BOC_uc003eab.3_Missense_Mutation_p.T44A NM_033254 NP_150279 Q9BWV1 BOC_HUMAN Homo sapiens Boc homolog (mouse) (BOC), mRNA. 343 Ig-like C2-type 4. cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation integral to membrane|plasma membrane protein binding NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 68 Epithelial(53;0.227) TGCCAAGCTTACCTGTGAGGT 0.657000 76 51 0 0 1 0 0 TMEM213 155006 broad.mit.edu 37 7 138482856 138482856 + Missense_Mutation SNP C T T TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr7:138482856C>T uc010lna.3 + 0 118 c.7C>T c.(7-9)Cgc>Tgc p.R3C ATP6V0A4_uc003vug.3_5'UTR|ATP6V0A4_uc003vuh.3_5'UTR|TMEM213_uc010lnb.3_Missense_Mutation_p.R3C NM_001085429 NP_001078898 A2RRL7 TM213_HUMAN Homo sapiens transmembrane protein 213 (TMEM213), mRNA. 3 integral to membrane p.Q2fs*7(3) breast(1)|endometrium(3)|kidney(1)|lung(1) 6 CAGCATGCAGCGCCTCCCCGC 0.657000 7 3 0 0 1 0 0 ZNF99 7652 broad.mit.edu 37 19 22940573 22940573 + Missense_Mutation SNP G A A TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr19:22940573G>A uc021urt.1 - 3 2293 c.2138C>T c.(2137-2139)gCt>gTt p.A713V NM_001080409 NP_001073878 Homo sapiens zinc finger protein 99 (ZNF99), mRNA. p.L713F(1) NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3) 124 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102) CTGGCTAAAAGCTTTGCCACA 0.378000 26 17 0 0 1 0 0 TRBV7-6 28592 broad.mit.edu 37 7 142139747 142139747 + Nonsense_Mutation SNP C T T TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr7:142139747C>T uc003vyt.3 - 0 69 c.24G>A c.(22-24)tgG>tgA p.W8* TRBV2_uc011kro.1_Intron|TRBV5-1_uc011krr.1_Intron|TRBV7-6_uc011krv.1_5'Flank SubName: Full=V_segment translation product; Flags: Fragment; CCAGGACCACCCAGCATAGGA 0.532000 77 54 0 0 1 0 0 POLQ 10721 broad.mit.edu 37 3 121208248 121208248 + Missense_Mutation SNP G A A TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr3:121208248G>A uc003eee.4 - 15 3659 c.3530C>T c.(3529-3531)tCa>tTa p.S1177L POLQ_uc003eed.3_Missense_Mutation_p.S349L NM_199420 NP_955452 O75417 DPOLQ_HUMAN Homo sapiens polymerase (DNA directed), theta (POLQ), mRNA. 1177 DNA repair|DNA replication nucleoplasm ATP binding|ATP-dependent helicase activity|DNA-directed DNA polymerase activity|damaged DNA binding|single-stranded DNA-dependent ATPase activity NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2) 120 GBM - Glioblastoma multiforme(114;0.0915) CTGGTTTTTTGAACCATTTTG 0.388000 DNA polymerases (catalytic subunits) 93 75 0 0 1 0 0 PHF7 51533 broad.mit.edu 37 3 52456817 52456817 + Missense_Mutation SNP G A A TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr3:52456817G>A uc003ddy.3 + 9 1645 c.839G>A c.(838-840)gGa>gAa p.G280E PHF7_uc003ddz.3_Missense_Mutation_p.G241E NM_016483 NP_057567 Q9BWX1 PHF7_HUMAN Homo sapiens PHD finger protein 7 (PHF7), transcript variant 1, mRNA. 280 nucleus zinc ion binding breast(2)|large_intestine(4)|lung(3) 9 BRCA - Breast invasive adenocarcinoma(193;1.71e-05)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)|OV - Ovarian serous cystadenocarcinoma(275;0.0275) GGATCCCACGGAACCCACAGG 0.552000 117 97 0 0 1 0 0 PKHD1 5314 broad.mit.edu 37 6 51889710 51889710 + Missense_Mutation SNP G A A TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr6:51889710G>A uc003pah.1 - 31 5174 c.4898C>T c.(4897-4899)tCt>tTt p.S1633F PKHD1_uc003pai.3_Missense_Mutation_p.S1633F NM_138694 NP_619639 P08F94 PKHD1_HUMAN Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA. 1633 IPT/TIG 11. cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body protein binding|receptor activity NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5) 304 Lung NSC(77;0.0605) CAGGGCAACAGAGCCATTCCC 0.488000 124 117 0 0 1 0 0 GOLPH3L 55204 broad.mit.edu 37 1 150620935 150620935 + Silent SNP G A A TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr1:150620935G>A uc001evj.2 - 4 937 c.720C>T c.(718-720)tcC>tcT p.S240S GOLPH3L_uc010pci.1_Silent_p.S196S NM_018178 NP_060648 Q9H4A5 GLP3L_HUMAN Homo sapiens golgi phosphoprotein 3-like (GOLPH3L), mRNA. 240 Golgi cisterna membrane breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1) 8 all_cancers(9;3.09e-52)|all_epithelial(9;4.47e-43)|all_lung(15;1.09e-34)|Lung NSC(24;4.04e-31)|Breast(34;0.000615)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171) UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;1.2e-23)|all cancers(9;4.81e-23)|OV - Ovarian serous cystadenocarcinoma(6;1.93e-15)|BRCA - Breast invasive adenocarcinoma(12;0.000479)|LUSC - Lung squamous cell carcinoma(543;0.171) CTGTCAGAGAGGAGAAGACAT 0.498000 85 134 0 0 1 0 0 NLRC5 84166 broad.mit.edu 37 16 57060214 57060214 + Silent SNP C T T TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr16:57060214C>T uc021tiu.1 + 4 1486 c.1359C>T c.(1357-1359)ccC>ccT p.P453P NLRC5_uc021tit.1_Silent_p.P453P|NLRC5_uc010ccq.1_Non-coding_Transcript|NLRC5_uc021tiv.1_Silent_p.P258P|NLRC5_uc021tiw.1_Silent_p.P258P|NLRC5_uc010ccr.1_Non-coding_Transcript NM_032206 NP_115582 Q86WI3 NLRC5_HUMAN Homo sapiens NLR family, CARD domain containing 5 (NLRC5), mRNA. 453 NACHT. P -> L (in dbSNP:rs9938543). defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity cytosol|nucleus ATP binding|RNA polymerase II core promoter sequence-specific DNA binding|protein binding NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 75 all_neural(199;0.225) GGCACTTGCCCACCTCGTCCC 0.597000 71 55 0 0 1 0 0 COL6A6 131873 broad.mit.edu 37 3 130368181 130368181 + Silent SNP C T T TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr3:130368181C>T uc010htl.3 + 31 5539 c.5508C>T c.(5506-5508)tcC>tcT p.S1836S COL6A6_uc003eni.4_Intron NM_001102608 NP_001096078 A6NMZ7 CO6A6_HUMAN Homo sapiens collagen, type VI, alpha 6 (COL6A6), mRNA. 1836 Nonhelical region.|VWFA 8. axon guidance|cell adhesion collagen NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 134 ATGAGAGATCCTCTGCCAGCA 0.493000 12 10 0 0 1 0 0 THBS2 7058 broad.mit.edu 37 6 169628232 169628232 + Missense_Mutation SNP C T T TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr6:169628232C>T uc003qwt.3 - 15 2652 c.2404G>A c.(2404-2406)Gac>Aac p.D802N NM_003247 NP_003238 P35442 TSP2_HUMAN Homo sapiens thrombospondin 2 (THBS2), mRNA. 802 cell adhesion extracellular region calcium ion binding|heparin binding|protein binding|structural molecule activity NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 111 Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247) OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379) CCATCAATGTCCACGGAGCAG 0.532000 32 27 0 0 1 0 0 IRX1 79192 broad.mit.edu 37 5 3600771 3600771 + Missense_Mutation SNP C T T TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr5:3600771C>T uc003jde.3 + 2 1413 c.1361C>T c.(1360-1362)tCg>tTg p.S454L NM_024337 NP_077313 P78414 IRX1_HUMAN Homo sapiens iroquois homeobox 1 (IRX1), mRNA. 454 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 CAGTTAAAGTCGCCCTTCCAG 0.637000 85 71 0 0 1 0 0 CDC42BPA 8476 broad.mit.edu 37 1 227221059 227221059 + Silent SNP C T T TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr1:227221059C>T uc001hqr.3 - 25 4372 c.3429G>A c.(3427-3429)cgG>cgA p.R1143R CDC42BPA_uc001hqq.3_Silent_p.R442R|CDC42BPA_uc001hqs.3_Silent_p.R1062R|CDC42BPA_uc009xes.3_Silent_p.R1115R|CDC42BPA_uc010pvs.2_Silent_p.R1123R|CDC42BPA_uc001hqp.3_Silent_p.R299R|CDC42BPA_uc001hqt.2_Silent_p.R21R|CDC42BPA_uc001hqu.1_Silent_p.R350R NM_003607 NP_003598 Q5VT25 MRCKA_HUMAN Homo sapiens CDC42 binding protein kinase alpha (DMPK-like) (CDC42BPA), transcript variant B, mRNA. 1156 PH. actin cytoskeleton reorganization|intracellular signal transduction cell leading edge|cell-cell junction|cytoplasm ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity p.D1143H(2) NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2) 77 all_cancers(173;0.156)|Prostate(94;0.0792) GTATATCTTTCCGACTTGCAT 0.338000 27 27 0 0 1 0 0 LY6E 4061 broad.mit.edu 37 8 144103157 144103157 + Missense_Mutation SNP C T T TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr8:144103157C>T uc003yxn.2 + 3 501 c.347C>T c.(346-348)gCc>gTc p.A116V LY6E_uc003yxm.2_Missense_Mutation_p.A116V|LY6E_uc003yxo.2_Non-coding_Transcript NM_001127213 NP_002337 Q16553 LY6E_HUMAN Homo sapiens lymphocyte antigen 6 complex, locus E (LY6E), transcript variant 2, mRNA. 116 cell surface receptor linked signaling pathway anchored to membrane|integral to plasma membrane endometrium(1)|kidney(3)|large_intestine(2)|lung(1) 7 all_cancers(97;1.94e-10)|all_epithelial(106;1.22e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) CTGCTGGGTGCCGGGCTGCTG 0.677000 86 37 0 0 1 0 0 KRT31 3881 broad.mit.edu 37 17 39553664 39553664 + Missense_Mutation SNP T C C TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr17:39553664T>C uc002hwn.3 - 0 181 c.128A>G c.(127-129)aAc>aGc p.N43S KRT31_uc010cxn.3_Missense_Mutation_p.N43S NM_002277 NP_002268 Q15323 K1H1_HUMAN Homo sapiens keratin 31 (KRT31), mRNA. 43 Head. epidermis development intermediate filament protein binding|structural constituent of cytoskeleton breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1) 31 Breast(137;0.000496) CCAGTTGCAGTTGCTCACATT 0.642000 86 73 0 0 1 0 0 OR5L2 26338 broad.mit.edu 37 11 55595173 55595173 + Missense_Mutation SNP C T T rs148523172 TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr11:55595173C>T uc001nhy.1 + 0 479 c.479C>T c.(478-480)tCg>tTg p.S160L NM_001004739 NP_001004739 Q8NGL0 OR5L2_HUMAN Homo sapiens olfactory receptor, family 5, subfamily L, member 2 (OR5L2), mRNA. 160 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 59 all_epithelial(135;0.208) CTGATTCACTCGTCCTTAGCT 0.483000 HNSCC(27;0.073) 125 119 0 0 1 0 0 TMEM104 54868 broad.mit.edu 37 17 72773476 72773476 + Missense_Mutation SNP G A A rs112926186 TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr17:72773476G>A uc002jls.4 + 1 169 c.7G>A c.(7-9)Ggt>Agt p.G3S NAT9_uc002jlq.3_5'Flank|NAT9_uc002jlr.3_5'Flank|TMEM104_uc010wrf.1_Missense_Mutation_p.G3S|TMEM104_uc010wrg.1_Missense_Mutation_p.G3S|TMEM104_uc010dfx.3_Missense_Mutation_p.G3S NM_017728 NP_060198 Q8NE00 TM104_HUMAN Homo sapiens transmembrane protein 104 (TMEM104), mRNA. 3 integral to membrane p.A2V(1) NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(5)|ovary(1) 19 all_lung(278;0.23) GGAAATGGCGGGTGAAATTAC 0.498000 38 39 0 0 1 0 0 FAM179A 165186 broad.mit.edu 37 2 29222195 29222195 + Silent SNP C T T TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr2:29222195C>T uc010ezl.3 + 3 639 c.288C>T c.(286-288)gcC>gcT p.A96A FAM179A_uc010ymm.2_Silent_p.A96A NM_199280 NP_954974 Q6ZUX3 F179A_HUMAN Homo sapiens family with sequence similarity 179, member A (FAM179A), mRNA. 96 binding breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 ACCTCAGGGCCTTGTCTTTGG 0.622000 31 32 0 0 1 0 0 DNAH2 146754 broad.mit.edu 37 17 7661865 7661865 + Missense_Mutation SNP C T T rs140826418 TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr17:7661865C>T uc002giu.1 + 12 2118 c.2104C>T c.(2104-2106)Cgg>Tgg p.R702W NM_020877 NP_065928 Q9P225 DYH2_HUMAN Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA. 702 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity p.I701F(1) 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) AGAGCGTATTCGGCTCCTGGA 0.542000 121 111 0 0 1 0 0 UBR4 23352 broad.mit.edu 37 1 19449393 19449393 + Silent SNP G A A TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr1:19449393G>A uc001bbi.3 - 65 9754 c.9750C>T c.(9748-9750)ttC>ttT p.F3250F UBR4_uc001bbk.1_Silent_p.F897F NM_020765 NP_065816 Q5T4S7 UBR4_HUMAN Homo sapiens ubiquitin protein ligase E3 component n-recognin 4 (UBR4), mRNA. 3250 interspecies interaction between organisms cytoplasm|cytoskeleton|integral to membrane|nucleus calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6) 171 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256) UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816) TTGCCCGGAGGAATATCCCCT 0.582000 89 60 0 0 1 0 0 POTEG 404785 broad.mit.edu 37 14 19553567 19553567 + Missense_Mutation SNP G A A TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr14:19553567G>A uc001vuz.1 + 0 203 c.151G>A c.(151-153)Gat>Aat p.D51N POTEG_uc001vva.1_Non-coding_Transcript|POTEG_uc010ahc.1_Non-coding_Transcript NM_001005356 NP_001005356 Q6S5H5 POTEG_HUMAN Homo sapiens POTE ankyrin domain family, member G (POTEG), transcript variant 1, mRNA. 51 cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 47 AGACCACGACGATTCTGCTAT 0.602000 702 81 0 0 1 0 0 PSMD2 5708 broad.mit.edu 37 3 184017647 184017647 + Silent SNP G A A TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr3:184017647G>A uc003fnn.1 + 1 177 c.144G>A c.(142-144)gaG>gaA p.E48E PSMD2_uc011brj.1_5'Flank|PSMD2_uc011brk.1_5'Flank NM_002808 NP_002799 Q13200 PSMD2_HUMAN Homo sapiens proteasome (prosome, macropain) 26S subunit, non-ATPase, 2 (PSMD2), mRNA. 48 DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|viral reproduction proteasome regulatory particle enzyme regulator activity|protein binding breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|liver(1)|lung(12)|prostate(3)|upper_aerodigestive_tract(2) 27 all_cancers(143;1.54e-10)|Ovarian(172;0.0339) Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) Bortezomib(DB00188) AGTCTGAAGAGGATAAACAGC 0.507000 44 45 0 0 1 0 0 BBX 56987 broad.mit.edu 37 3 107491799 107491799 + Missense_Mutation SNP T C C TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr3:107491799T>C uc010hpr.3 + 10 1558 c.1231T>C c.(1231-1233)Tat>Cat p.Y411H BBX_uc003dwk.4_Missense_Mutation_p.Y411H|BBX_uc003dwl.4_Intron|BBX_uc010hps.1_Missense_Mutation_p.Y432H|BBX_uc003dwm.4_Missense_Mutation_p.Y411H|BBX_uc003dwo.4_5'Flank NM_001142568 NP_001136040 Q8WY36 BBX_HUMAN Homo sapiens bobby sox homolog (Drosophila) (BBX), transcript variant 1, mRNA. 411 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding breast(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(18)|ovary(4)|pancreas(1)|skin(2) 49 OV - Ovarian serous cystadenocarcinoma(3;0.112) TGATTTTTCTTATTCTGCCAG 0.348000 45 44 0 0 1 0 0 RAF1 5894 broad.mit.edu 37 3 12645679 12645679 + Missense_Mutation SNP G A A TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr3:12645679G>A uc003bxf.4 - 6 1205 c.790C>T c.(790-792)Cac>Tac p.H264Y RAF1_uc011aut.2_Missense_Mutation_p.H49Y|RAF1_uc011auu.2_Missense_Mutation_p.H182Y NM_002880 NP_002871 P04049 RAF1_HUMAN Homo sapiens v-raf-1 murine leukemia viral oncogene homolog 1 (RAF1), mRNA. 264 Ras protein signal transduction|activation of MAPKK activity|apoptosis|axon guidance|cell proliferation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of protein complex assembly|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of peptidyl-serine phosphorylation|synaptic transmission cytosol|mitochondrial outer membrane|plasma membrane ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|receptor signaling protein activity ESRP1/RAF1(4)|RAF1/DAZL(2)|SRGAP3/RAF1(6) biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1) 32 Sorafenib(DB00398) CTGACCATGTGGACATTAGGT 0.517000 T SRGAP3 pilocytic astrocytoma Noonan syndrome 72 73 0 0 1 0 0 WTIP 126374 broad.mit.edu 37 19 34981377 34981377 + Missense_Mutation SNP C T T TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr19:34981377C>T uc002nvm.3 + 1 764 c.764C>T c.(763-765)tCg>tTg p.S255L NM_001080436 NP_001073905 Homo sapiens Wilms tumor 1 interacting protein (WTIP), mRNA. NS(1)|large_intestine(2)|lung(1) 4 all_lung(56;5.94e-07)|Lung NSC(56;9.35e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.211) ACCTGCGACTCGTGTGGTAGG 0.577000 50 46 0 0 1 0 0 MYO7B 4648 broad.mit.edu 37 2 128381890 128381890 + Missense_Mutation SNP G A A TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr2:128381890G>A uc002top.3 + 28 4017 c.3964G>A c.(3964-3966)Gag>Aag p.E1322K MYO7B_uc002toq.1_Missense_Mutation_p.E175K|MYO7B_uc002tor.1_Missense_Mutation_p.E175K NM_001080527 NP_001073996 Q6PIF6 MYO7B_HUMAN Homo sapiens myosin VIIB (MYO7B), mRNA. 1322 FERM 1. apical plasma membrane|myosin complex ATP binding|actin binding|motor activity breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1) 75 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0753) GTACAGCTTCGAGAAGGTGAG 0.592000 6 4 0 0 1 0 0 CDH15 1013 broad.mit.edu 37 16 89246691 89246691 + Silent SNP C T T TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr16:89246691C>T uc002fmt.3 + 2 362 c.285C>T c.(283-285)ttC>ttT p.F95F CDH15_uc010cij.1_Silent_p.F95F NM_004933 NP_004924 P55291 CAD15_HUMAN Homo sapiens cadherin 15, type 1, M-cadherin (myotubule) (CDH15), mRNA. 95 Cadherin 1. adherens junction organization|cell junction assembly|homophilic cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation integral to membrane|plasma membrane calcium ion binding central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 18 BRCA - Breast invasive adenocarcinoma(80;0.0261) GGGGCGTCTTCTCTATCGACA 0.607000 23 19 0 0 1 0 0 KCNQ2 3785 broad.mit.edu 37 20 62044897 62044897 + Missense_Mutation SNP C T T TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr20:62044897C>T uc002yey.1 - 14 1846 c.1669G>A c.(1669-1671)Gag>Aag p.E557K KCNQ2_uc002yez.1_Missense_Mutation_p.E526K|KCNQ2_uc002yfa.1_Missense_Mutation_p.E539K|KCNQ2_uc002yfb.1_Missense_Mutation_p.E529K NM_172107 NP_742105 O43526 KCNQ2_HUMAN Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 2 (KCNQ2), transcript variant 1, mRNA. 557 axon guidance|synaptic transmission voltage-gated potassium channel complex voltage-gated potassium channel activity biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|liver(1)|lung(30)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 65 all_cancers(38;1.24e-11) BRCA - Breast invasive adenocarcinoma(10;1.04e-05) Amitriptyline(DB00321) CGCAGGCTCTCCTTGAACTTC 0.637000 152 126 0 0 1 0 0 OR2L3 391192 broad.mit.edu 37 1 248224163 248224163 + Silent SNP C T T TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr1:248224163C>T uc001idx.1 + 0 180 c.180C>T c.(178-180)ttC>ttT p.F60F OR2L13_uc001ids.3_Intron NM_001004687 NP_001004687 Q8NG85 OR2L3_HUMAN Homo sapiens olfactory receptor, family 2, subfamily L, member 3 (OR2L3), mRNA. 60 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1) 41 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0278) CCATGTATTTCCTACTTAGTC 0.403000 446 180 0 0 1 0 0 GRIN3A 116443 broad.mit.edu 37 9 104432780 104432780 + Silent SNP C T T TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr9:104432780C>T uc004bbp.2 - 2 2515 c.1914G>A c.(1912-1914)cgG>cgA p.R638R GRIN3A_uc004bbq.1_Silent_p.R638R NM_133445 NP_597702 Q8TCU5 NMD3A_HUMAN Homo sapiens glutamate receptor, ionotropic, N-methyl-D-aspartate 3A (GRIN3A), mRNA. 638 response to ethanol N-methyl-D-aspartate selective glutamate receptor complex|cell junction|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|protein phosphatase 2A binding p.A637A(1)|p.R638R(1)|p.R638G(1) breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1) 80 Acute lymphoblastic leukemia(62;0.0568) Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740) TCACCTGGCTCCGTGCAGTAT 0.537000 4 67 0 0 1 0 0 TP53BP2 7159 broad.mit.edu 37 1 223990458 223990458 + Missense_Mutation SNP G A A TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr1:223990458G>A uc001hod.3 - 8 1395 c.584C>T c.(583-585)gCt>gTt p.A195V TP53BP2_uc010pvb.2_Missense_Mutation_p.A324V|TP53BP2_uc010puz.2_5'Flank|TP53BP2_uc010pva.2_5'Flank NM_005426 NP_005417 Q13625 ASPP2_HUMAN Homo sapiens tumor protein p53 binding protein, 2 (TP53BP2), transcript variant 2, mRNA. 318 apoptosis|cell cycle|induction of apoptosis|negative regulation of cell cycle|signal transduction nucleus|perinuclear region of cytoplasm NF-kappaB binding|SH3 domain binding|SH3/SH2 adaptor activity|protein binding NS(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(2) 29 GBM - Glioblastoma multiforme(131;0.0958) TTGCTGTAGAGCTGCCTTCTT 0.468000 93 83 0 0 1 0 0 HFM1 164045 broad.mit.edu 37 1 91841143 91841144 + Missense_Mutation DNP GG AA AA TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr1:91841143_91841144GG>AA uc001doa.4 - 11 1635_1636 c.1536_1537CC>TT c.(1534-1539)accctc>acTTtc p.L513F HFM1_uc010osu.2_Missense_Mutation_p.L192F|HFM1_uc010osv.1_Missense_Mutation_p.L197F NM_001017975 NP_001017975 A2PYH4 HFM1_HUMAN Homo sapiens HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae) (HFM1), mRNA. 513 ATP binding|ATP-dependent helicase activity|nucleic acid binding p.L513I(2)|p.L513F(2) breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 75 all_lung(203;0.00961)|Lung NSC(277;0.0351) all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171) TTGTAGTTGAGGGTTAAATCAA 0.366000 61 48 0 0 1 0 0 ZNF787 126208 broad.mit.edu 37 19 56599507 56599507 + Missense_Mutation SNP G A A TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr19:56599507G>A uc010eth.1 - 2 1153 c.1034C>T c.(1033-1035)tCg>tTg p.S345L NM_001002836 NP_001002836 Q6DD87 ZN787_HUMAN Homo sapiens zinc finger protein 787 (ZNF787), mRNA. 345 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(1)|lung(2)|pancreas(1) 5 Colorectal(82;3.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0559) GCTGCAGACCGAGGGCGCGCC 0.746000 20 13 0 0 1 0 0 ZNF705A 440077 broad.mit.edu 37 12 8330144 8330145 + Missense_Mutation DNP GG AA AA TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr12:8330144_8330145GG>AA uc001qud.1 + 4 940_941 c.868_869GG>AA c.(868-870)ggg>AAg p.G290K FAM66C_uc001que.4_5'Flank|FAM66C_uc001quf.4_5'Flank|FAM66C_uc009zgc.3_5'Flank|FAM66C_uc001qug.3_5'Flank NM_001004328 NP_001004328 Q6ZN79 Z705A_HUMAN Homo sapiens zinc finger protein 705A (ZNF705A), mRNA. 290 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|skin(3)|stomach(4) 18 Kidney(36;0.0877) TCTTCTATGTGGGAAGGCCTTC 0.421000 47 13 0 0 1 0 0 WDR72 256764 broad.mit.edu 37 15 54025314 54025314 + Nonsense_Mutation SNP C T T TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr15:54025314C>T uc002acj.2 - 1 75 c.33G>A c.(31-33)tgG>tgA p.W11* WDR72_uc010bfi.1_Nonsense_Mutation_p.W11* NM_182758 NP_877435 Q3MJ13 WDR72_HUMAN Homo sapiens WD repeat domain 72 (WDR72), mRNA. 11 NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 71 all cancers(107;0.0511) CCTTCTGTCCCCAGAGTGCCA 0.502000 58 50 0 0 1 0 0 TRERF1 55809 broad.mit.edu 37 6 42236210 42236210 + Silent SNP G A A TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr6:42236210G>A uc003ose.2 - 4 1682 c.1119C>T c.(1117-1119)tcC>tcT p.S373S TRERF1_uc011duq.1_Silent_p.S373S|TRERF1_uc003osb.2_Silent_p.S212S|TRERF1_uc003osc.2_Silent_p.S212S|TRERF1_uc003osd.2_Silent_p.S373S NM_033502 NP_277037 Q96PN7 TREF1_HUMAN Homo sapiens transcriptional regulating factor 1 (TRERF1), mRNA. 373 Gln-rich. cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process nucleus DNA bending activity|RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2) 45 Colorectal(47;0.196) Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152) ACTGGGACATGGAGCCCAGGG 0.607000 142 129 0 0 1 0 0 SLC12A3 6559 broad.mit.edu 37 16 56904538 56904538 + Splice_Site SNP G A A TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr16:56904538G>A uc002ekd.4 + 6 771 c.742_splice c.e6-1 p.E248_splice SLC12A3_uc010ccm.3_Splice_Site_p.E248_splice|SLC12A3_uc010ccn.3_Splice_Site_p.E247_splice NM_000339 NP_000330 P55017 S12A3_HUMAN Homo sapiens solute carrier family 12 (sodium/chloride transporters), member 3 (SLC12A3), transcript variant 1, mRNA. 248 sodium ion transmembrane transport apical plasma membrane|integral to plasma membrane|membrane fraction sodium:chloride symporter activity breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 50 Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325) CCCTCCCCAGGAGTATGGGGC 0.622000 59 29 0 0 1 0 0 ZNF99 7652 broad.mit.edu 37 19 22941785 22941786 + Missense_Mutation DNP CC TT TT TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr19:22941785_22941786CC>TT uc021urt.1 - 3 1080_1081 c.925_926GG>AA c.(925-927)gga>AAa p.G309K NM_001080409 NP_001073878 Homo sapiens zinc finger protein 99 (ZNF99), mRNA. NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3) 124 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102) GGGTTTCTCTCCAGTATGAATT 0.356000 22 22 0 0 1 0 0 IGSF10 285313 broad.mit.edu 37 3 151164229 151164229 + Silent SNP T C C TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr3:151164229T>C uc011bod.2 - 3 3540 c.3540A>G c.(3538-3540)tcA>tcG p.S1180S NM_178822 NP_849144 Q6WRI0 IGS10_HUMAN Homo sapiens immunoglobulin superfamily, member 10 (IGSF10), transcript variant 1, mRNA. 1180 cell differentiation|multicellular organismal development|ossification extracellular region p.S1179L(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3) 116 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) CACCTGAAAGTGACGATGTAA 0.398000 138 115 0 0 1 0 0 PITPNM3 83394 broad.mit.edu 37 17 6367078 6367078 + Silent SNP G A A TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr17:6367078G>A uc002gdd.4 - 16 2431 c.2280C>T c.(2278-2280)gtC>gtT p.V760V PITPNM3_uc010cln.3_Silent_p.V724V|PITPNM3_uc010clm.3_Silent_p.V243V|PITPNM3_uc002gdc.4_Silent_p.V351V NM_031220 NP_112497 Q9BZ71 PITM3_HUMAN Homo sapiens PITPNM family member 3 (PITPNM3), transcript variant 1, mRNA. 760 phosphatidylinositol metabolic process endomembrane system|integral to membrane calcium ion binding|lipid binding|phosphatidylinositol transporter activity|receptor tyrosine kinase binding autonomic_ganglia(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(3)|skin(2) 36 Colorectal(2;0.000372)|READ - Rectum adenocarcinoma(2;0.0276)|LUAD - Lung adenocarcinoma(2;0.0836)|COAD - Colon adenocarcinoma(228;0.185) CACCCGGCCGGACCTTGGGGT 0.612000 35 24 0 0 1 0 0 ENPEP 2028 broad.mit.edu 37 4 111397773 111397773 + Missense_Mutation SNP C T T TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr4:111397773C>T uc003iab.4 + 0 545 c.203C>T c.(202-204)tCa>tTa p.S68L NM_001977 NP_001968 Q07075 AMPE_HUMAN Homo sapiens glutamyl aminopeptidase (aminopeptidase A) (ENPEP), mRNA. 68 cell migration|cell proliferation|cell-cell signaling|proteolysis integral to plasma membrane aminopeptidase activity|metalloexopeptidase activity|zinc ion binding breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1) 54 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.0031) L-Glutamic Acid(DB00142) GCCAGCCCCTCAGGTCCTCCT 0.652000 99 93 0 0 1 0 0 BMPER 168667 broad.mit.edu 37 7 34094807 34094807 + Silent SNP C T T TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr7:34094807C>T uc011kap.2 + 9 1193 c.819C>T c.(817-819)tcC>tcT p.S273S NM_133468 NP_597725 Q8N8U9 BMPER_HUMAN Homo sapiens BMP binding endothelial regulator (BMPER), mRNA. 273 VWFC 4. blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation extracellular space breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 GGAAGTGCTCCCACCCTGGTG 0.502000 72 61 0 0 1 0 0 ZNF823 55552 broad.mit.edu 37 19 11833391 11833391 + Nonsense_Mutation SNP G A A TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr19:11833391G>A uc002msm.2 - 3 1084 c.958C>T c.(958-960)Cga>Tga p.R320* ZNF823_uc010xmd.1_Nonsense_Mutation_p.R138*|ZNF823_uc010dyi.1_Nonsense_Mutation_p.R276* NM_001080493 NP_001073962 P16415 ZN823_HUMAN Homo sapiens zinc finger protein 823 (ZNF823), mRNA. 320 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4) 26 ATGTGTCTTCGAAAGCTTGTG 0.413000 HNSCC(68;0.2) 46 49 0 0 1 0 0 UNC13A 23025 broad.mit.edu 37 19 17729310 17729310 + Splice_Site SNP C T T TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr19:17729310C>T uc021uqk.1 - 39 4369 c.4327_splice c.e39-1 p.D1443_splice NM_001080421 NP_001073890 Q9UPW8 UN13A_HUMAN Homo sapiens unc-13 homolog A (C. elegans) (UNC13A), mRNA. 1444 MHD2. exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2) 61 ACCATGTGATCCTGGATGGAT 0.577000 8 3 0 0 1 0 0 HP1BP3 50809 broad.mit.edu 37 1 21071422 21071422 + Silent SNP T C C TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr1:21071422T>C uc001bdy.1 - 11 1630 c.1530A>G c.(1528-1530)agA>agG p.R510R HP1BP3_uc001bdv.1_Silent_p.R472R|HP1BP3_uc001bdw.1_Silent_p.R510R|HP1BP3_uc010odh.1_Silent_p.R472R|HP1BP3_uc010odf.1_Silent_p.R169R|HP1BP3_uc010odg.1_Silent_p.R358R NM_016287 NP_057371 Q5SSJ5 HP1B3_HUMAN Homo sapiens heterochromatin protein 1, binding protein 3 (HP1BP3), mRNA. 510 Lys-rich. nucleosome assembly nucleosome|nucleus DNA binding central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|prostate(2)|skin(2)|urinary_tract(1) 16 all_lung(284;6.55e-06)|Lung NSC(340;6.59e-06)|Colorectal(325;3.46e-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;0.0182)|COAD - Colon adenocarcinoma(152;1.26e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00015)|GBM - Glioblastoma multiforme(114;0.000521)|Kidney(64;0.000529)|STAD - Stomach adenocarcinoma(196;0.00311)|KIRC - Kidney renal clear cell carcinoma(64;0.00687)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.201) TGGATGAGGGTCTGGTCTTCT 0.532000 38 38 0 0 1 0 0 ATP6V0A4 50617 broad.mit.edu 37 7 138437472 138437472 + Silent SNP C T T TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr7:138437472C>T uc003vuf.3 - 9 1165 c.927G>A c.(925-927)ctG>ctA p.L309L ATP6V0A4_uc003vug.3_Silent_p.L309L|ATP6V0A4_uc003vuh.3_Silent_p.L309L NM_130841 NP_570856 Q9HBG4 VPP4_HUMAN Homo sapiens ATPase, H+ transporting, lysosomal V0 subunit a4 (ATP6V0A4), transcript variant 3, mRNA. 309 cellular iron ion homeostasis|excretion|insulin receptor signaling pathway|ossification|regulation of pH|sensory perception of sound|transferrin transport apical plasma membrane|brush border membrane|endosome membrane|integral to membrane|proton-transporting two-sector ATPase complex, proton-transporting domain ATPase binding|hydrogen ion transmembrane transporter activity p.L309L(1) NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 36 TGCACATGTTCAGGATGTGGT 0.572000 50 44 0 0 1 0 0 SIPA1L2 57568 broad.mit.edu 37 1 232619607 232619607 + Missense_Mutation SNP G T T TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr1:232619607G>T uc001hvg.3 - 3 2070 c.1912C>A c.(1912-1914)Ctt>Att p.L638I NM_020808 NP_065859 Q9P2F8 SI1L2_HUMAN Homo sapiens signal-induced proliferation-associated 1 like 2 (SIPA1L2), mRNA. 638 Rap-GAP. regulation of small GTPase mediated signal transduction intracellular GTPase activator activity NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 103 all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186) AGAAGATCAAGGAATTCTTCA 0.433000 45 35 7.04047e-22 7.14211e-22 1 1 0 ATP13A2 23400 broad.mit.edu 37 1 17326773 17326773 + Missense_Mutation SNP G A A TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr1:17326773G>A uc001baa.2 - 9 1065 c.875C>T c.(874-876)tCc>tTc p.S292F ATP13A2_uc001bac.2_Missense_Mutation_p.S287F|ATP13A2_uc001bab.2_Missense_Mutation_p.S287F|ATP13A2_uc009vpa.1_Missense_Mutation_p.S5F|ATP13A2_uc001bad.1_Missense_Mutation_p.S5F NM_022089 NP_071372 Q9NQ11 AT132_HUMAN Homo sapiens ATPase type 13A2 (ATP13A2), transcript variant 1, mRNA. 292 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 32 Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646) UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182) CACCCGCATGGACAACTTGAC 0.711000 9 9 0 0 1 0 0 CHST1 8534 broad.mit.edu 37 11 45672405 45672405 + Silent SNP G A A TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr11:45672405G>A uc021qgn.1 - 0 69 c.69C>T c.(67-69)atC>atT p.I23I CHST1_uc001mys.2_Silent_p.I23I NM_003654 NP_003645 O43916 CHST1_HUMAN Homo sapiens carbohydrate (keratan sulfate Gal-6) sulfotransferase 1 (CHST1), mRNA. 23 galactose metabolic process|inflammatory response|keratan sulfate metabolic process Golgi membrane|integral to membrane keratan sulfotransferase activity breast(1)|endometrium(3)|large_intestine(10)|lung(17)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1) 42 GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781) TGAAGGTGCGGATGGCCGTGT 0.647000 76 58 0 0 1 0 0 AK310228 0 broad.mit.edu 37 16 16465386 16465386 + Missense_Mutation SNP C T T TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr16:16465386C>T uc002dey.2 + 0 390 c.103C>T c.(103-105)Cgg>Tgg p.R35W SubName: Full=cDNA FLJ42525 fis, clone BRACE3001391, highly similar to Polycystin; CTGGGCTGCCCGGGGCCACTG 0.692000 53 29 0 0 1 0 0 RNF112 7732 broad.mit.edu 37 17 19317818 19317818 + Splice_Site SNP G A A TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr17:19317818G>A uc010vyw.2 + 8 1164 c.933_splice c.e8+1 p.Q311_splice RNF112_uc021tsa.1_Splice_Site|RNF112_uc010vyx.1_Splice_Site_p.Q194_splice NM_007148 NP_009079 Q7Z5V9 Q7Z5V9_HUMAN Homo sapiens ring finger protein 112 (RNF112), mRNA. 311 GTP binding|GTPase activity|zinc ion binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|urinary_tract(1) 12 TGCCAATCCAGGTGAGACACC 0.577000 63 57 0 0 1 0 0 FBXL7 23194 broad.mit.edu 37 5 15936872 15936872 + Silent SNP C T T TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr5:15936872C>T uc003jfn.1 + 3 1534 c.1053C>T c.(1051-1053)cgC>cgT p.R351R NM_012304 NP_036436 Q9UJT9 FBXL7_HUMAN Homo sapiens F-box and leucine-rich repeat protein 7 (FBXL7), mRNA. 351 ubiquitin-dependent protein catabolic process ubiquitin ligase complex protein binding|ubiquitin-protein ligase activity cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 60 TGGAGTCCCGCCTGCGGTACC 0.657000 17 13 0 0 1 0 0 PRRG1 5638 broad.mit.edu 37 X 37312578 37312578 + Missense_Mutation SNP C T T TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chrX:37312578C>T uc004ddn.3 + 4 614 c.361C>T c.(361-363)Cct>Tct p.P121S PRRG1_uc004ddo.3_Missense_Mutation_p.P121S|PRRG1_uc022buu.1_Missense_Mutation_p.P121S|PRRG1_uc022buv.1_Missense_Mutation_p.P121S NM_000950 NP_001166961 O14668 TMG1_HUMAN Homo sapiens proline rich Gla (G-carboxyglutamic acid) 1 (PRRG1), transcript variant 1, mRNA. 121 extracellular region|integral to plasma membrane calcium ion binding breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1) 15 AGGCCACATTCCTTTCCCTCA 0.458000 3 72 0 0 1 0 0 INA 9118 broad.mit.edu 37 10 105048322 105048322 + Missense_Mutation SNP A G G TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr10:105048322A>G uc001kws.3 + 2 1445 c.1396A>G c.(1396-1398)Ata>Gta p.I466V NM_032727 NP_116116 Q16352 AINX_HUMAN Homo sapiens internexin neuronal intermediate filament protein, alpha (INA), mRNA. 466 Tail. cell differentiation|nervous system development neurofilament structural constituent of cytoskeleton breast(2)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(2) 13 Epithelial(162;3.45e-09)|all cancers(201;9.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198) AACCTCCCAGATAGGGGAAAG 0.403000 46 58 0 0 1 0 0 PHOX2B 8929 broad.mit.edu 37 4 41748105 41748105 + Missense_Mutation SNP C T T TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr4:41748105C>T uc003gwf.4 - 2 1024 c.664G>A c.(664-666)Gga>Aga p.G222R NM_003924 NP_003915 Q99453 PHX2B_HUMAN Homo sapiens paired-like homeobox 2b (PHOX2B), mRNA. 222 positive regulation of transcription from RNA polymerase II promoter nuclear chromatin RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity p.G216fs*88(1) autonomic_ganglia(7)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|skin(1)|urinary_tract(1) 30 cccggagctccagccgggctg 0.821000 """Mis, F""" neuroblastoma neuroblastoma congenital central hypoventilation syndrome Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome 12 20 0 0 1 0 0 OR4A15 81328 broad.mit.edu 37 11 55136266 55136266 + Silent SNP C T T TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr11:55136266C>T uc010rif.2 + 0 907 c.907C>T c.(907-909)Cta>Tta p.L303L NM_001005275 NP_001005275 Q8NGL6 O4A15_HUMAN Homo sapiens olfactory receptor, family 4, subfamily A, member 15 (OR4A15), mRNA. 303 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 71 GACTGTAGTTCTAACTTTTAT 0.383000 95 74 0 0 1 0 0 ZNF534 147658 broad.mit.edu 37 19 52942411 52942411 + Silent SNP G A A rs113700997 TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr19:52942411G>A uc002pzk.3 + 3 1804 c.1737G>A c.(1735-1737)gcG>gcA p.A579A ZNF534_uc002pzj.1_Intron|ZNF534_uc010epo.1_Intron|ZNF534_uc002pzl.3_Silent_p.A566A NM_001143939 NP_001137411 Q76KX8 ZN534_HUMAN Homo sapiens zinc finger protein 534 (ZNF534), transcript variant 2, mRNA. 579 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.A579A(4) central_nervous_system(1)|lung(1)|prostate(1)|skin(1) 4 CACACCTTGCGCGACATAGGA 0.443000 11 3 0 0 1 0 0 TLR4 7099 broad.mit.edu 37 9 120466791 120466791 + Missense_Mutation SNP C T T TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr9:120466791C>T uc004bjz.3 + 0 332 c.41C>T c.(40-42)gCc>gTc p.A14V TLR4_uc004bkb.3_5'UTR|TLR4_uc004bka.3_5'UTR NM_138554 NP_612564 O00206 TLR4_HUMAN Homo sapiens toll-like receptor 4 (TLR4), transcript variant 1, mRNA. 14 I-kappaB phosphorylation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|T-helper 1 type immune response|Toll signaling pathway|activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|innate immune response|intestinal epithelial structure maintenance|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm lipopolysaccharide receptor activity|transmembrane receptor activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1) 103 CTGATCCCAGCCATGGCCTTC 0.602000 7 40 0 0 1 0 0 FAM194A 131831 broad.mit.edu 37 3 150398319 150398319 + Silent SNP C T T TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr3:150398319C>T uc003eyg.3 - 8 1104 c.1047G>A c.(1045-1047)caG>caA p.Q349Q FAM194A_uc003eyh.3_Silent_p.Q203Q NM_152394 NP_689607 Q7L0X2 F194A_HUMAN Homo sapiens family with sequence similarity 194, member A (FAM194A), mRNA. 349 NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 38 TTCGTTGCTCCTGTTTCCTAC 0.383000 39 43 0 0 1 0 0 NRXN1 9378 broad.mit.edu 37 2 51254876 51254876 + Missense_Mutation SNP G A A TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr2:51254876G>A uc021vhh.1 - 0 1457 c.536C>T c.(535-537)cCc>cTc p.P179L NRXN1_uc021vhg.1_Missense_Mutation_p.P179L|NRXN1_uc021vhi.1_Missense_Mutation_p.P179L|NRXN1_uc021vhj.1_Missense_Mutation_p.P179L|NRXN1_uc021vhk.1_Missense_Mutation_p.P179L NM_004801 NP_004792 Q9ULB1 NRX1A_HUMAN Homo sapiens neurexin 1 (NRXN1), transcript variant alpha1, mRNA. 179 Laminin G-like 1. adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition cell surface|integral to plasma membrane metal ion binding|protein binding|receptor activity breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 58 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192) Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116) CCCCTTGAAGGGCTCCCGCTC 0.687000 15 16 0 0 1 0 0 C19orf45 374877 broad.mit.edu 37 19 7573220 7573220 + Silent SNP C T T TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr19:7573220C>T uc002mgm.2 + 8 1563 c.1422C>T c.(1420-1422)ttC>ttT p.F474F NM_198534 NP_940936 Q8NA69 CS045_HUMAN Homo sapiens chromosome 19 open reading frame 45 (C19orf45), mRNA. 474 endometrium(1)|kidney(1)|liver(1)|lung(2)|ovary(2)|stomach(1) 8 AGGAGGGCTTCGTGCCCCTGG 0.587000 37 21 0 0 1 0 0 ABHD1 84696 broad.mit.edu 37 2 27352463 27352463 + Missense_Mutation SNP C G G TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr2:27352463C>G uc002rit.3 + 4 746 c.586C>G c.(586-588)Cca>Gca p.P196A ABHD1_uc002riu.3_Non-coding_Transcript|ABHD1_uc002riv.3_Non-coding_Transcript NM_032604 NP_115993 Q96SE0 ABHD1_HUMAN Homo sapiens abhydrolase domain containing 1 (ABHD1), mRNA. 196 integral to membrane carboxylesterase activity endometrium(1)|kidney(1)|lung(3) 5 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TCCCCAAGCTCCACTGCTGGC 0.522000 54 43 0 0 1 0 0 ZSCAN20 7579 broad.mit.edu 37 1 33958971 33958971 + Silent SNP C T T TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr1:33958971C>T uc001bxj.4 + 6 1796 c.1629C>T c.(1627-1629)ctC>ctT p.L543L ZSCAN20_uc009vui.3_Silent_p.L542L NM_145238 NP_660281 P17040 ZSC20_HUMAN Homo sapiens zinc finger and SCAN domain containing 20 (ZSCAN20), mRNA. 543 viral reproduction mitochondrion|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(2)|pancreas(1)|stomach(1) 31 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211) TCAAAAACCTCCTTCGAAGCT 0.592000 85 80 0 0 1 0 0 LAMA2 3908 broad.mit.edu 37 6 129511366 129511366 + Missense_Mutation SNP G A A TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr6:129511366G>A uc021zfb.1 + 10 1589 c.1484G>A c.(1483-1485)gGa>gAa p.G495E LAMA2_uc003qbn.3_Missense_Mutation_p.G495E|LAMA2_uc003qbo.3_Missense_Mutation_p.G495E NM_000426 NP_000417 P24043 LAMA2_HUMAN Homo sapiens laminin, alpha 2 (LAMA2), transcript variant 1, mRNA. 495 Laminin EGF-like 4. cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity p.G495G(2) NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2) 194 OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245) GTTGAAGGAGGAGACTGTAGT 0.408000 23 22 0 0 1 0 0 DNAH5 1767 broad.mit.edu 37 5 13809159 13809159 + Silent SNP C T T TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr5:13809159C>T uc003jfd.2 - 45 7788 c.7746G>A c.(7744-7746)caG>caA p.Q2582Q NM_001369 NP_001360 Q8TE73 DYH5_HUMAN Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA. 2582 AAA 3 (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) ATACCTTGCCCTGTTTAGCAA 0.373000 Kartagener syndrome 71 40 0 0 1 0 0 GPR98 84059 broad.mit.edu 37 5 89924538 89924538 + Silent SNP A G G TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr5:89924538A>G uc003kju.3 + 7 1494 c.1398A>G c.(1396-1398)acA>acG p.T466T GPR98_uc003kjt.3_5'UTR NM_032119 NP_115495 Q8WXG9 GPR98_HUMAN Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA. 466 Calx-beta 4. cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane 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) TGTTGGCAACAATTCCTCTTA 0.478000 79 64 0 0 1 0 0 TULP1 7287 broad.mit.edu 37 6 35480433 35480433 + Missense_Mutation SNP G A A TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr6:35480433G>A uc003okv.4 - 1 94 c.82C>T c.(82-84)Ccg>Tcg p.P28S TULP1_uc003okw.4_Missense_Mutation_p.P28S|TULP1_uc021yyx.1_Missense_Mutation_p.P28S|TULP1_uc021yyy.1_Missense_Mutation_p.P28S NM_003322 NP_003313 O00294 TULP1_HUMAN Homo sapiens tubby like protein 1 (TULP1), mRNA. 28 dendrite development|eye photoreceptor cell development|phagocytosis|photoreceptor cell maintenance|positive regulation of phagocytosis cell junction|cytoplasm|extracellular region|photoreceptor inner segment|photoreceptor outer segment|synapse actin filament binding|phosphatidylinositol-4,5-bisphosphate binding central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 19 GGGCGCCGCGGGGCCTCCGGG 0.627000 85 76 0 0 1 0 0 PRAMEF11 440560 broad.mit.edu 37 1 12887250 12887250 + Missense_Mutation SNP C T T TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr1:12887250C>T uc001auk.2 - 2 803 c.607G>A c.(607-609)Gat>Aat p.D203N NM_001146344 NP_001139816 O60813 PRA11_HUMAN Homo sapiens PRAME family member 11 (PRAMEF11), mRNA. 203 NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1) 27 CGAGAGACATCCATGTGGGAG 0.498000 228 187 0 0 1 0 0 OR4A5 81318 broad.mit.edu 37 11 51412010 51412010 + Missense_Mutation SNP T G G TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr11:51412010T>G uc001nhi.2 - 0 439 c.386A>C c.(385-387)cAc>cCc p.H129P NM_001005272 NP_001005272 Q8NH83 OR4A5_HUMAN Homo sapiens olfactory receptor, family 4, subfamily A, member 5 (OR4A5), mRNA. 129 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 49 all_lung(304;0.236) GGTCAAATAGTGCAGTGGCTT 0.468000 62 51 0 0 1 0 0 SYNGR2 9144 broad.mit.edu 37 17 76167914 76167914 + Missense_Mutation SNP C T T TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr17:76167914C>T uc002jut.3 + 2 688 c.661C>T c.(661-663)Cct>Tct p.P221S SYNGR2_uc002juu.1_Missense_Mutation_p.A191V O43760 SNG2_HUMAN Homo sapiens synaptogyrin 2 (SYNGR2), mRNA. 0 integral to plasma membrane endometrium(2)|large_intestine(1)|liver(1)|lung(1)|skin(1)|urinary_tract(1) 7 BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)|OV - Ovarian serous cystadenocarcinoma(97;0.0994) CCCAACACTGCCTACGCCTCC 0.627000 115 109 0 0 1 0 0 NOS1AP 9722 broad.mit.edu 37 1 162337219 162337219 + Missense_Mutation SNP G A A TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr1:162337219G>A uc001gbv.2 + 9 1870 c.1483G>A c.(1483-1485)Gaa>Aaa p.E495K NOS1AP_uc001gbw.2_Missense_Mutation_p.E490K|NOS1AP_uc010pks.1_Non-coding_Transcript|NOS1AP_uc009wut.1_Missense_Mutation_p.E200K NM_014697 NP_055512 O75052 CAPON_HUMAN Homo sapiens nitric oxide synthase 1 (neuronal) adaptor protein (NOS1AP), transcript variant 1, mRNA. 495 Interaction with NOS1 (By similarity). regulation of apoptosis|regulation of nitric oxide biosynthetic process|regulation of nitric-oxide synthase activity PDZ domain binding|nitric-oxide synthase binding p.E495K(3)|p.E200K(1) NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(2) 32 all_hematologic(112;0.203) BRCA - Breast invasive adenocarcinoma(70;0.0537) GCAGAGGCAGGAACTGGGCGA 0.682000 12 9 0 0 1 0 0 DQX1 165545 broad.mit.edu 37 2 74751085 74751085 + Missense_Mutation SNP G A A TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr2:74751085G>A uc010yrw.2 - 3 946 c.781C>T c.(781-783)Cca>Tca p.P261S DQX1_uc002smc.3_5'Flank NM_133637 NP_598376 Q8TE96 DQX1_HUMAN Homo sapiens DEAQ box RNA-dependent ATPase 1 (DQX1), mRNA. 261 Helicase C-terminal. nucleus ATP binding|helicase activity|nucleic acid binding cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1) 18 ACATCTCCTGGAAGCTCCTTC 0.507000 41 47 0 0 1 0 0 MASP2 10747 broad.mit.edu 37 1 11090879 11090879 + Missense_Mutation SNP G A A TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr1:11090879G>A uc001aru.3 - 8 1180 c.1148C>T c.(1147-1149)cCt>cTt p.P383L NM_006610 NP_006601 O00187 MASP2_HUMAN Homo sapiens mannan-binding lectin serine peptidase 2 (MASP2), transcript variant 1, mRNA. 383 Sushi 2. complement activation, classical pathway|complement activation, lectin pathway|proteolysis extracellular region calcium ion binding|calcium-dependent protein binding|serine-type endopeptidase activity biliary_tract(1)|endometrium(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 23 Ovarian(185;0.249) Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) STAD - Stomach adenocarcinoma(5;0.071) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.12e-07)|COAD - Colon adenocarcinoma(227;7.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)|STAD - Stomach adenocarcinoma(313;0.192) GGTCACTCCAGGACCTGTGAT 0.468000 45 40 0 0 1 0 0 SLC12A3 6559 broad.mit.edu 37 16 56947240 56947240 + Silent SNP C T T TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr16:56947240C>T uc002ekd.4 + 25 3045 c.3016C>T c.(3016-3018)Ctg>Ttg p.L1006L SLC12A3_uc010ccm.3_Silent_p.L997L|SLC12A3_uc010ccn.3_Silent_p.L1005L NM_000339 NP_000330 P55017 S12A3_HUMAN Homo sapiens solute carrier family 12 (sodium/chloride transporters), member 3 (SLC12A3), transcript variant 1, mRNA. 997 sodium ion transmembrane transport apical plasma membrane|integral to plasma membrane|membrane fraction sodium:chloride symporter activity breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 50 Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325) GCTGGAGACCCTGTCCCAGGA 0.542000 79 70 0 0 1 0 0 TPTE 7179 broad.mit.edu 37 21 10996046 10996046 + RNA SNP G A A TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr21:10996046G>A uc002yis.1 - 11 c.2140C>T P56180 TPTE_HUMAN Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 2, mRNA. signal transduction integral to membrane ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1) 130 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) TAACTGCTCAGAAACAGAGCC 0.383000 53 16 0 0 1 0 0 DNAH3 55567 broad.mit.edu 37 16 21063074 21063074 + Silent SNP G A A TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr16:21063074G>A uc010vbe.2 - 28 4155 c.4155C>T c.(4153-4155)atC>atT p.I1385I NM_017539 NP_060009 Q8TD57 DYH3_HUMAN Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA. 1385 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6) 202 GBM - Glioblastoma multiforme(48;0.207) CTTCTGTGGTGATAATCTGCA 0.547000 124 88 0 0 1 0 0 PAPL 390928 broad.mit.edu 37 19 39589226 39589226 + Missense_Mutation SNP G A A rs144395661 TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr19:39589226G>A uc002oki.3 + 2 524 c.250G>A c.(250-252)Ggg>Agg p.G84R PAPL_uc010egl.3_Missense_Mutation_p.G84R NM_001004318 NP_001004318 Q6ZNF0 PAPL_HUMAN Homo sapiens iron/zinc purple acid phosphatase-like protein (PAPL), mRNA. 84 extracellular region acid phosphatase activity|metal ion binding CTTTGTGGACGGGGGCATTCT 0.652000 49 52 0 0 1 0 0 HMGCS2 3158 broad.mit.edu 37 1 120293520 120293520 + Missense_Mutation SNP G A A TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr1:120293520G>A uc001eid.3 - 8 1520 c.1432C>T c.(1432-1434)Cca>Tca p.P478S HMGCS2_uc010oxj.2_Missense_Mutation_p.P436S|HMGCS2_uc021osw.1_Missense_Mutation_p.P244S NM_005518 NP_005509 P54868 HMCS2_HUMAN Homo sapiens 3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial) (HMGCS2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 478 acetoacetic acid biosynthetic process|cholesterol biosynthetic process|isoprenoid biosynthetic process|ketone body biosynthetic process mitochondrial matrix hydroxymethylglutaryl-CoA synthase activity NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 28 all_cancers(5;6.38e-10)|all_epithelial(5;1.1e-10)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219) all_lung(203;1.29e-06)|Lung NSC(69;9.35e-06)|all_epithelial(167;0.00124) Lung(183;0.0112)|LUSC - Lung squamous cell carcinoma(189;0.0595) TCACCAGGTGGGGAGAAATTC 0.493000 26 23 0 0 1 0 0 ANO3 63982 broad.mit.edu 37 11 26538446 26538446 + Missense_Mutation SNP G A A TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr11:26538446G>A uc001mqt.4 + 5 809 c.664G>A c.(664-666)Gag>Aag p.E222K ANO3_uc010rdr.2_Missense_Mutation_p.E206K|ANO3_uc010rds.2_Missense_Mutation_p.E76K|ANO3_uc010rdt.2_Missense_Mutation_p.E76K NM_031418 NP_113606 Q9BYT9 ANO3_HUMAN Homo sapiens anoctamin 3 (ANO3), mRNA. 222 chloride channel complex chloride channel activity breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 68 CAAGTATGCAGAGAGGCTGAA 0.368000 32 24 0 0 1 0 0 KIR2DL2 3803 broad.mit.edu 37 GL000209.1 35661 35661 + Missense_Mutation SNP G A A TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chrGL000209.1:35661G>A uc002qts.2 + 6 897 c.868G>A c.(868-870)Gag>Aag p.E290K KIR2DL2_uc002qtt.2_Intron|KIR2DL2_uc002qtv.3_5'Flank|KIR2DL2_uc010yic.2_5'Flank|KIR2DL2_uc002qty.3_5'Flank NM_014219 NP_055034 P43627 KI2L2_HUMAN Homo sapiens killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 2 (KIR2DL2), mRNA. 290 SE -> RQ (in Ref. 2; AAB36597). regulation of immune response integral to membrane|plasma membrane receptor activity AGCGAATAGCGAGGTAGGTAC 0.552000 3 61 0 0 1 0 0 PLCH1 23007 broad.mit.edu 37 3 155311920 155311920 + Missense_Mutation SNP G A A TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr3:155311920G>A uc021xge.1 - 2 521 c.244C>T c.(244-246)Cac>Tac p.H82Y PLCH1_uc021xgd.1_Missense_Mutation_p.H82Y|PLCH1_uc021xgf.1_Missense_Mutation_p.H64Y NM_001130960 NP_001124432 Q4KWH8 PLCH1_HUMAN Homo sapiens phospholipase C, eta 1 (PLCH1), transcript variant 1, mRNA. 82 PH. lipid catabolic process|phosphatidylinositol-mediated signaling membrane calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4) 107 Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114) GCTTGTCTGTGGAATATTTCA 0.493000 35 29 0 0 1 0 0 AATF 26574 broad.mit.edu 37 17 35346687 35346687 + Missense_Mutation SNP C T T TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr17:35346687C>T uc002hni.3 + 6 1542 c.1291C>T c.(1291-1293)Cca>Tca p.P431S NM_012138 NP_036270 Q9NY61 AATF_HUMAN Homo sapiens apoptosis antagonizing transcription factor (AATF), mRNA. 431 RB1 and SP1 binding. anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|negative regulation of superoxide anion generation|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to DNA damage stimulus centrosome|focal adhesion|nucleolus leucine zipper domain binding|sequence-specific DNA binding transcription factor activity cervix(2)|endometrium(1)|large_intestine(4)|lung(7)|ovary(2)|skin(2) 18 Breast(25;0.00607) TCAGCCTGTCCCAGAGAGTTT 0.458000 151 127 0 0 1 0 0 GPN1 11321 broad.mit.edu 37 2 27851919 27851919 + Silent SNP G A A TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr2:27851919G>A uc010ymc.2 + 0 57 c.36G>A c.(34-36)agG>agA p.R12R ZNF512_uc010yly.1_Intron|CCDC121_uc002rld.3_5'Flank|CCDC121_uc002rle.3_5'Flank|CCDC121_uc021vfe.1_5'Flank|GPN1_uc010ezf.3_Intron|GPN1_uc010yma.2_Intron|GPN1_uc010ymb.2_Intron|GPN1_uc010ymd.2_5'UTR|GPN1_uc010ezg.1_5'Flank NM_007266 NP_001138520 Q9HCN4 GPN1_HUMAN Homo sapiens GPN-loop GTPase 1 (GPN1), transcript variant 1, mRNA. 0 cytoplasm GTP binding|nucleoside-triphosphatase activity|protein binding endometrium(1)|large_intestine(1)|lung(12) 14 GTGGGGCCAGGAGGAAGATGG 0.627000 83 75 0 0 1 0 0 GIMAP4 55303 broad.mit.edu 37 7 150270061 150270061 + Silent SNP G A A TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr7:150270061G>A uc003whl.3 + 2 985 c.903G>A c.(901-903)gtG>gtA p.V301V GIMAP4_uc011kuu.2_Silent_p.V162V|GIMAP4_uc011kuv.2_Silent_p.V315V NM_018326 NP_060796 Q9NUV9 GIMA4_HUMAN Homo sapiens GTPase, IMAP family member 4 (GIMAP4), mRNA. 301 GTP binding breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 14 OV - Ovarian serous cystadenocarcinoma(82;0.0179) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) GAACGGAAGTGGAGAGTAAGG 0.403000 65 57 0 0 1 0 0 COL5A3 50509 broad.mit.edu 37 19 10100153 10100153 + Missense_Mutation SNP C T T TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr19:10100153C>T uc002mmq.1 - 24 2124 c.2038G>A c.(2038-2040)Ggc>Agc p.G680S NM_015719 NP_056534 P25940 CO5A3_HUMAN Homo sapiens collagen, type V, alpha 3 (COL5A3), mRNA. 680 Triple-helical region. collagen fibril organization|skin development collagen type V collagen binding|extracellular matrix structural constituent NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 116 Epithelial(33;7.11e-05) ACCAGAGGGCCATCGGATCCT 0.547000 50 29 0 0 1 0 0 CHRNA1 1134 broad.mit.edu 37 2 175624215 175624215 + Splice_Site SNP C T T TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr2:175624215C>T uc002ujd.2 - 2 267 c.189_splice c.e2+1 p.V63_splice BC046497_uc002uiw.3_Intron|CHRNA1_uc002uje.2_Splice_Site_p.V63_splice|CHRNA1_uc002ujf.4_Splice_Site_p.V63_splice NM_001039523 NP_001034612 P02708 ACHA_HUMAN Homo sapiens cholinergic receptor, nicotinic, alpha 1 (muscle) (CHRNA1), transcript variant 1, mRNA. 63 muscle cell homeostasis|neuromuscular junction development|neuromuscular process|neuromuscular synaptic transmission|neuron homeostasis|regulation of action potential in neuron|skeletal muscle contraction|skeletal muscle tissue growth cell junction|cell surface|neuromuscular junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(3)|prostate(3)|skin(4) 37 TCTTGTCTCACCACATTGATG 0.582000 143 90 0 0 1 0 0 C6 729 broad.mit.edu 37 5 41149408 41149408 + Missense_Mutation SNP G A A TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr5:41149408G>A uc003jmk.2 - 16 2768 c.2558C>T c.(2557-2559)tCa>tTa p.S853L C6_uc003jml.1_Missense_Mutation_p.S853L NM_000065 NP_001108603 P13671 CO6_HUMAN Homo sapiens complement component 6 (C6), transcript variant 1, mRNA. 853 C5b-binding domain. complement activation, classical pathway|cytolysis|innate immune response membrane attack complex protein binding central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2) 96 Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157) GCTGTTGGATGAAAGTCTTGT 0.423000 129 106 0 0 1 0 0 PCDHAC2 56134 broad.mit.edu 37 5 140230192 140230192 + Silent SNP C T T TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr5:140230192C>T uc003lhu.2 + 0 2836 c.2112C>T c.(2110-2112)atC>atT p.I704I PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lht.1_Silent_p.I704I NM_031857 NP_114063 Q9Y5I4 PCDC2_HUMAN Homo sapiens protocadherin alpha 9 (PCDHA9), transcript variant 1, mRNA. 712 homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 45 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TCATCGCCATCTGCGCGGTGT 0.662000 11 85 0 0 1 0 0 LHFPL5 222662 broad.mit.edu 37 6 35773804 35773804 + Silent SNP C T T TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr6:35773804C>T uc003olg.1 + 0 734 c.357C>T c.(355-357)ttC>ttT p.F119F NM_182548 NP_872354 Q8TAF8 TMHS_HUMAN Homo sapiens lipoma HMGIC fusion partner-like 5 (LHFPL5), mRNA. 119 integral to membrane endometrium(4)|large_intestine(4)|lung(7)|prostate(2)|skin(2)|urinary_tract(1) 20 GCCTGTTCTTCATCTGCAACA 0.572000 55 81 0 0 1 0 0 SLC13A3 64849 broad.mit.edu 37 20 45224911 45224911 + Missense_Mutation SNP G A A TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr20:45224911G>A uc002xsf.2 - 4 719 c.679C>T c.(679-681)Cgt>Tgt p.R227C SLC13A3_uc010ghn.2_Missense_Mutation_p.R196C|SLC13A3_uc010zxx.2_Missense_Mutation_p.R129C|SLC13A3_uc010zxw.2_Silent_p.I204I|SLC13A3_uc002xsg.2_Missense_Mutation_p.R180C|SLC13A3_uc010gho.2_Missense_Mutation_p.R180C NM_022829 NP_073740 Q8WWT9 S13A3_HUMAN Homo sapiens solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3 (SLC13A3), transcript variant 1, mRNA. 227 integral to membrane|plasma membrane high affinity sodium:dicarboxylate symporter activity breast(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 31 Myeloproliferative disorder(115;0.0122) Succinic acid(DB00139) ATGTTCCGACGATATTCATCC 0.542000 95 58 0 0 1 0 0 SQLE 6713 broad.mit.edu 37 8 126011774 126011774 + Silent SNP C T T TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr8:126011774C>T uc011liq.2 + 0 1055 c.129C>T c.(127-129)tcC>tcT p.S43S NM_003129 NP_003120 Q14534 ERG1_HUMAN Homo sapiens squalene epoxidase (SQLE), mRNA. 43 S -> F (in Ref. 2; BX647400). cholesterol biosynthetic process endoplasmic reticulum membrane|integral to membrane|microsome flavin adenine dinucleotide binding|squalene monooxygenase activity NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1) 14 Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108) STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205) Butenafine(DB01091)|Naftifine(DB00735)|Terbinafine(DB00857) TGGTGCTCTCCTACCGCTGTC 0.582000 42 33 0 0 1 0 0 EPPK1 83481 broad.mit.edu 37 8 144943038 144943038 + Missense_Mutation SNP A G G TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr8:144943038A>G uc003zaa.1 - 0 4397 c.4384T>C c.(4384-4386)Ttt>Ctt p.F1462L NM_031308 NP_112598 P58107 EPIPL_HUMAN Homo sapiens epiplakin 1 (EPPK1), mRNA. 1462 cytoplasm|cytoskeleton protein binding|structural molecule activity NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) CACCCCTTAAACCTCCCTGTG 0.622000 37 24 0 0 1 0 0 MARK4 57787 broad.mit.edu 37 19 45783846 45783846 + Missense_Mutation SNP G A A rs35070611 TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr19:45783846G>A uc002pbb.2 + 11 1461 c.1130G>A c.(1129-1131)cGg>cAg p.R377Q MARK4_uc002paz.2_3'UTR|MARK4_uc002pba.2_Missense_Mutation_p.R377Q|MARK4_uc002pbc.1_Missense_Mutation_p.R243Q NM_001199867 NP_001186796 Q96L34 MARK4_HUMAN Homo sapiens MAP/microtubule affinity-regulating kinase 4 (MARK4), transcript variant 1, mRNA. 377 R -> Q (in dbSNP:rs35070611). microtubule bundle formation|nervous system development|positive regulation of programmed cell death centrosome|neuron projection ATP binding|gamma-tubulin binding|microtubule binding|protein serine/threonine kinase activity|tau-protein kinase activity|ubiquitin binding NS(1)|biliary_tract(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 31 all_neural(266;0.224)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.0102) GGTGGGGACCGGGGCGCCCCA 0.701000 72 88 0 0 1 0 0 PDE3A 5139 broad.mit.edu 37 12 20766634 20766634 + Splice_Site SNP G A A TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr12:20766634G>A uc001reh.2 + 3 1309 c.1269_splice c.e3+1 p.K423_splice PDE3A_uc021qwa.1_Splice_Site_p.K101_splice NM_000921 NP_000912 Q14432 PDE3A_HUMAN Homo sapiens phosphodiesterase 3A, cGMP-inhibited (PDE3A), transcript variant 1, mRNA. 423 lipid metabolic process|platelet activation|signal transduction cytosol|integral to membrane 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 58 Esophageal squamous(101;0.125) Breast(259;0.134) Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277) CTATTCCAAAGGTAGGTAGTA 0.408000 41 23 0 0 1 0 0 CEACAM6 4680 broad.mit.edu 37 19 42265904 42265904 + Missense_Mutation SNP C T T TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr19:42265904C>T uc002orm.2 + 3 880 c.731C>T c.(730-732)cCc>cTc p.P244L NM_002483 NP_002474 P40199 CEAM6_HUMAN Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 6 (non-specific cross reacting antigen) (CEACAM6), mRNA. 244 Ig-like C2-type 2. cell-cell signaling|signal transduction anchored to membrane|integral to plasma membrane breast(1)|kidney(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 18 OV - Ovarian serous cystadenocarcinoma(3;0.00575)|all cancers(3;0.0352)|Epithelial(262;0.0797) ACCATTTCCCCCTCAAAGGCC 0.532000 69 43 0 0 1 0 0 FAM89B 23625 broad.mit.edu 37 11 65341036 65341036 + Missense_Mutation SNP C G G TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr11:65341036C>G uc001oel.2 + 1 815 c.494C>G c.(493-495)cCg>cGg p.P165R FAM89B_uc001oem.2_Missense_Mutation_p.P152R|FAM89B_uc001oen.2_3'UTR|EHBP1L1_uc001oeo.4_5'Flank NM_001098785 NP_001092255 Q8N5H3 FA89B_HUMAN Homo sapiens family with sequence similarity 89, member B (FAM89B), transcript variant 1, mRNA. 152 large_intestine(1)|urinary_tract(2) 3 CCTCCTGACCCGCCACCCCTT 0.662000 45 48 0 0 1 0 0 ITPR3 3710 broad.mit.edu 37 6 33656487 33656487 + Missense_Mutation SNP C T T TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr6:33656487C>T uc021ywr.1 + 48 6847 c.6623C>T c.(6622-6624)tCc>tTc p.S2208F NM_002224 NP_002215 Q14573 ITPR3_HUMAN Homo sapiens inositol 1,4,5-trisphosphate receptor, type 3 (ITPR3), mRNA. 2208 G-protein coupled receptor protein signaling pathway|activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 85 GGCAGCATCTCCTTCAACCTG 0.597000 42 45 0 0 1 0 0 FREM1 158326 broad.mit.edu 37 9 14759816 14759816 + Missense_Mutation SNP A T T TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr9:14759816A>T uc003zlm.3 - 28 6104 c.5288T>A c.(5287-5289)aTt>aAt p.I1763N FREM1_uc010mic.3_Intron|FREM1_uc003zlk.3_Non-coding_Transcript|FREM1_uc003zll.3_Missense_Mutation_p.I299N NM_144966 NP_659403 Q5H8C1 FREM1_HUMAN Homo sapiens FRAS1 related extracellular matrix 1 (FREM1), transcript variant 1, mRNA. 1763 Calx-beta. 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) CCTTCTGATAATTTCCAAGGG 0.393000 3 40 0 0 1 0 0 THADA 63892 broad.mit.edu 37 2 43514064 43514064 + Missense_Mutation SNP T C C TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr2:43514064T>C uc002rsw.4 - 34 5499 c.5147A>G c.(5146-5148)aAc>aGc p.N1716S THADA_uc010far.3_Missense_Mutation_p.N911S|THADA_uc002rsx.4_Missense_Mutation_p.N1716S|THADA_uc002rsy.4_Non-coding_Transcript NM_001083953 NP_071348 Q6YHU6 THADA_HUMAN Homo sapiens thyroid adenoma associated (THADA), transcript variant 3, mRNA. 1716 binding breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 66 Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837) AGGATGGGGGTTGGTGAGGAA 0.458000 53 44 0 0 1 0 0 MARCH7 64844 broad.mit.edu 37 2 160604775 160604775 + Missense_Mutation SNP A G G TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr2:160604775A>G uc002uax.3 + 4 1096 c.974A>G c.(973-975)cAg>cGg p.Q325R MARCH7_uc010foq.3_Missense_Mutation_p.Q325R|MARCH7_uc010zcn.2_Missense_Mutation_p.Q269R|MARCH7_uc010for.3_Missense_Mutation_p.Q287R|MARCH7_uc002uay.3_Non-coding_Transcript NM_022826 NP_073737 Q9H992 MARH7_HUMAN Homo sapiens membrane-associated ring finger (C3HC4) 7 (MARCH7), mRNA. 325 Ser-rich. ligase activity|zinc ion binding breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(2) 18 ACAGCTTCACAGTCCCGTAGT 0.398000 40 33 0 0 1 0 0 CACNA2D3 55799 broad.mit.edu 37 3 54537587 54537587 + Silent SNP G A A TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr3:54537587G>A uc003dhf.3 + 4 498 c.450G>A c.(448-450)aaG>aaA p.K150K CACNA2D3_uc011beu.1_Non-coding_Transcript|CACNA2D3_uc003dhg.1_Silent_p.K56K|CACNA2D3_uc003dhh.1_Non-coding_Transcript|CACNA2D3_uc010hmv.1_Intron NM_018398 NP_060868 Q8IZS8 CA2D3_HUMAN Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 3 (CACNA2D3), mRNA. 150 integral to membrane calcium channel activity|metal ion binding|voltage-gated ion channel activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3) 59 KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327) AGCTGGGAAAGGAATTCATCT 0.373000 44 34 0 0 1 0 0 RAD51B 5890 broad.mit.edu 37 14 68934949 68934949 + Missense_Mutation SNP G A A TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr14:68934949G>A uc001xkf.2 + 9 1095 c.1018G>A c.(1018-1020)Gaa>Aaa p.E340K RAD51B_uc001xkd.3_Missense_Mutation_p.E340K|RAD51B_uc010aqr.3_Missense_Mutation_p.E221K|RAD51B_uc001xke.3_Missense_Mutation_p.E340K|RAD51B_uc001xkg.2_Missense_Mutation_p.E340K NM_133509 NP_598193 O15315 RA51B_HUMAN Homo sapiens RAD51 homolog B (S. cerevisiae) (RAD51B), transcript variant 3, mRNA. 340 DNA repair|blood coagulation|reciprocal meiotic recombination nucleoplasm ATP binding|DNA binding|DNA-dependent ATPase activity HMGA2/RAD51B(11) breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 11 CATCAAGGAGGAAGGCCTGGT 0.438000 Direct reversal of damage 86 77 0 0 1 0 0 TNKS 8658 broad.mit.edu 37 8 9610056 9610056 + Missense_Mutation SNP G T T TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr8:9610056G>T uc003wss.3 + 19 3078 c.3073G>T c.(3073-3075)Gct>Tct p.A1025S TNKS_uc011kww.2_Missense_Mutation_p.A788S NM_003747 NP_003738 O95271 TNKS1_HUMAN Homo sapiens tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase (TNKS), mRNA. 1025 Wnt receptor signaling pathway|mRNA transport|mitotic spindle organization|negative regulation of DNA binding|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of telomere maintenance via telomerase|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein poly-ADP-ribosylation|protein polyubiquitination|protein transport|spindle assembly|transmembrane transport Golgi membrane|chromosome, centromeric region|microsome|nuclear chromosome, telomeric region|nuclear membrane|nuclear pore|pericentriolar material NAD+ ADP-ribosyltransferase activity|protein binding|zinc ion binding NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2) 49 COAD - Colon adenocarcinoma(149;0.0467) TGTTTTAGTTGCTGGTCTTGA 0.333000 33 21 1.15919e-05 1.1637e-05 1 1 0 LAMA2 3908 broad.mit.edu 37 6 129712686 129712686 + Missense_Mutation SNP G A A TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr6:129712686G>A uc021zfb.1 + 35 5227 c.5122G>A c.(5122-5124)Gag>Aag p.E1708K LAMA2_uc003qbn.3_Missense_Mutation_p.E1708K|LAMA2_uc003qbo.3_Missense_Mutation_p.E1708K NM_000426 NP_000417 P24043 LAMA2_HUMAN Homo sapiens laminin, alpha 2 (LAMA2), transcript variant 1, mRNA. 1708 Domain II and I. cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2) 194 OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245) AACTCGAGACGAGGCCTTTGA 0.363000 75 51 0 0 1 0 0 METTL7B 196410 broad.mit.edu 37 12 56075783 56075783 + Missense_Mutation SNP G A A TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr12:56075783G>A uc010spr.2 + 0 454 c.245G>A c.(244-246)gGa>gAa p.G82E NM_152637 NP_689850 Q6UX53 MET7B_HUMAN Homo sapiens methyltransferase like 7B (METTL7B), mRNA. 82 methyltransferase activity kidney(1)|large_intestine(1)|lung(4) 6 TGCGGAACCGGAGCCAACTTT 0.572000 36 44 0 0 1 0 0 FZD3 7976 broad.mit.edu 37 8 28384779 28384779 + Nonsense_Mutation SNP G T T TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr8:28384779G>T uc003xgx.3 + 4 1031 c.502G>T c.(502-504)Gag>Tag p.E168* FZD3_uc010lvb.3_Nonsense_Mutation_p.E168* NM_017412 NP_665873 Q9NPG1 FZD3_HUMAN Homo sapiens frizzled family receptor 3 (FZD3), transcript variant 1, mRNA. 168 G-protein signaling, coupled to cGMP nucleotide second messenger|canonical Wnt receptor signaling pathway|cell proliferation in midbrain|commissural neuron axon guidance|establishment of planar polarity|facial nucleus development|gonad development|inner ear morphogenesis|neural tube closure|vasculature development apical part of cell|axon|cytoplasm|dendrite|integral to membrane|neuron projection membrane|neuronal cell body|presynaptic active zone G-protein coupled receptor activity|PDZ domain binding|Wnt-protein binding p.R167R(1) central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(15)|ovary(1)|prostate(1)|skin(1) 41 Ovarian(32;2.06e-05) KIRC - Kidney renal clear cell carcinoma(542;0.109)|Kidney(114;0.13)|Colorectal(74;0.23) GTGTCCCCGAGAGTTAAAAAT 0.443000 72 57 5.73376e-24 5.82417e-24 1 1 0 PDS5B 23047 broad.mit.edu 37 13 33344516 33344516 + Silent SNP A C C TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr13:33344516A>C uc010abf.3 + 31 4068 c.3882A>C c.(3880-3882)ccA>ccC p.P1294P PDS5B_uc010abg.3_Non-coding_Transcript NM_015032 NP_055847 Q9NTI5 PDS5B_HUMAN Homo sapiens PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae) (PDS5B), mRNA. 1294 cell division|cell proliferation|mitotic sister chromatid cohesion|negative regulation of cell proliferation chromatin|nucleus ATP binding|DNA binding|identical protein binding NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|lung(14)|ovary(5)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1) 62 Lung SC(185;0.0367) all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204) GCCGACCACCAAAACCTCTTG 0.428000 43 44 0 0 1 0 0 STARD13 90627 broad.mit.edu 37 13 33703873 33703873 + Missense_Mutation SNP G A A TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr13:33703873G>A uc001uuw.3 - 4 1067 c.941C>T c.(940-942)tCg>tTg p.S314L STARD13_uc001uuu.3_Missense_Mutation_p.S306L|STARD13_uc001uuv.3_Missense_Mutation_p.S196L|STARD13_uc001uux.3_Missense_Mutation_p.S279L|STARD13_uc010abh.1_Missense_Mutation_p.S299L|STARD13_uc021rhz.1_Missense_Mutation_p.S306L|STARD13_uc021ria.1_Missense_Mutation_p.S196L NM_178006 NP_443083 Q9Y3M8 STA13_HUMAN Homo sapiens StAR-related lipid transfer (START) domain containing 13 (STARD13), transcript variant 1, mRNA. 314 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|lipid particle|mitochondrial membrane GTPase activator activity|protein binding breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1) 40 all_epithelial(80;0.155) Lung SC(185;0.0367) all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143) AGGTGGCGGCGAATTCTGGAG 0.602000 89 72 0 0 1 0 0 USP31 57478 broad.mit.edu 37 16 23080528 23080528 + Missense_Mutation SNP C G G TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr16:23080528C>G uc002dll.3 - 15 2898 c.2898G>C c.(2896-2898)caG>caC p.Q966H USP31_uc002dlk.3_Missense_Mutation_p.Q238H|USP31_uc010vca.2_Missense_Mutation_p.Q269H|USP31_uc010bxm.3_Missense_Mutation_p.Q254H NM_020718 NP_065769 Q70CQ4 UBP31_HUMAN Homo sapiens ubiquitin specific peptidase 31 (USP31), mRNA. 966 Ser-rich. ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2) 57 GBM - Glioblastoma multiforme(48;0.0187) AATGTTTGCTCTGTGTATCTA 0.542000 91 86 0 0 1 0 0 STYXL1 51657 broad.mit.edu 37 7 75643104 75643104 + Missense_Mutation SNP T C C TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr7:75643104T>C uc003uel.3 - 4 752 c.409A>G c.(409-411)Acg>Gcg p.T137A STYXL1_uc011kgg.2_5'UTR|STYXL1_uc003ueh.3_Intron|STYXL1_uc011kgf.2_Intron|STYXL1_uc003uek.4_Intron|STYXL1_uc003uem.3_Missense_Mutation_p.T137A|STYXL1_uc010ldg.2_Intron|STYXL1_uc010ldh.2_Missense_Mutation_p.T137A|STYXL1_uc003uen.1_Missense_Mutation_p.T137A NM_016086 NP_057170 Q9Y6J8 STYL1_HUMAN Homo sapiens serine/threonine/tyrosine interacting-like 1 (STYXL1), mRNA. 137 Rhodanese. intracellular signal transduction|protein dephosphorylation intracellular protein binding|protein tyrosine/serine/threonine phosphatase activity endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(1) 10 AAGTGGTACGTGCCTGAGAAG 0.582000 272 165 0 0 1 0 0 ALDH1B1 219 broad.mit.edu 37 9 38397236 38397236 + Missense_Mutation SNP T A A TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr9:38397236T>A uc022bgy.1 + 0 1491 c.1491T>A c.(1489-1491)gaT>gaA p.D497E ALDH1B1_uc004aay.3_Missense_Mutation_p.D497E NM_000692 NP_000683 P30837 AL1B1_HUMAN Homo sapiens aldehyde dehydrogenase 1 family, member B1 (ALDH1B1), nuclear gene encoding mitochondrial protein, mRNA. 497 carbohydrate metabolic process mitochondrial matrix|nucleus aldehyde dehydrogenase (NAD) activity NS(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(2)|urinary_tract(2) 32 GBM - Glioblastoma multiforme(29;0.043)|Lung(182;0.115) NADH(DB00157) TGGGTGAGGATGGGCTTAAGG 0.552000 8 30 0 0 1 0 0 CFH 3075 broad.mit.edu 37 1 196648897 196648897 + Missense_Mutation SNP G A A TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr1:196648897G>A uc001gtj.4 + 5 1004 c.764G>A c.(763-765)gGa>gAa p.G255E CFH_uc001gti.4_Missense_Mutation_p.G255E|CFH_uc009wyw.3_Missense_Mutation_p.G255E|CFH_uc009wyx.3_Missense_Mutation_p.G191E NM_000186 NP_000177 P08603 CFAH_HUMAN Homo sapiens complement factor H (CFH), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 255 Sushi 4. complement activation, alternative pathway extracellular space NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 101 ACTGAATCTGGATGGCGTCCG 0.308000 36 21 0 0 1 0 0 OR2J2 26707 broad.mit.edu 37 6 29141953 29141953 + Missense_Mutation SNP G A A TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr6:29141953G>A uc011dlm.2 + 0 643 c.541G>A c.(541-543)Gaa>Aaa p.E181K NM_030905 NP_112167 O76002 OR2J2_HUMAN Homo sapiens olfactory receptor, family 2, subfamily J, member 2 (OR2J2), mRNA. 181 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.E181*(2) endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(17)|ovary(1)|upper_aerodigestive_tract(1) 25 CTTCTTCTGTGAAGTTCCAGC 0.448000 130 97 0 0 1 0 0 PPP2R3A 5523 broad.mit.edu 37 3 135722046 135722046 + Missense_Mutation SNP C T T TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr3:135722046C>T uc003eqv.2 + 1 2323 c.1706C>T c.(1705-1707)cCt>cTt p.P569L PPP2R3A_uc011blz.2_Intron NM_002718 NP_002709 Q06190 P2R3A_HUMAN Homo sapiens protein phosphatase 2, regulatory subunit B'', alpha (PPP2R3A), transcript variant 1, mRNA. 569 protein dephosphorylation protein phosphatase type 2A complex calcium ion binding|protein binding|protein phosphatase type 2A regulator activity breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 AAAGTCTCACCTTCCTGTCTA 0.403000 41 40 0 0 1 0 0 PER3 8863 broad.mit.edu 37 1 7863183 7863183 + Missense_Mutation SNP C T T rs145870917 TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr1:7863183C>T uc001aop.3 + 7 1173 c.949C>T c.(949-951)Cgt>Tgt p.R317C PER3_uc009vmg.1_Missense_Mutation_p.R317C|PER3_uc009vmh.1_Missense_Mutation_p.R317C|PER3_uc001aoo.3_Missense_Mutation_p.R316C|PER3_uc010nzw.2_5'UTR|PER3_uc001aon.3_Missense_Mutation_p.R316C NM_016831 NP_058515 P56645 PER3_HUMAN Homo sapiens period homolog 3 (Drosophila) (PER3), mRNA. 316 PAS 2. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus signal transducer activity breast(4)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 39 Ovarian(185;0.0634)|all_lung(157;0.178) all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649) CCCTGAAGATCGTTCTCTGAT 0.428000 71 39 0 0 1 0 0 ADAMTS13 11093 broad.mit.edu 37 9 136310084 136310084 + Missense_Mutation SNP C T T TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr9:136310084C>T uc004cdv.4 + 19 2965 c.2521C>T c.(2521-2523)Cca>Tca p.P841S ADAMTS13_uc004cdp.4_Missense_Mutation_p.P68S|ADAMTS13_uc004cdt.1_Missense_Mutation_p.P841S|ADAMTS13_uc004cdu.1_Missense_Mutation_p.P810S|ADAMTS13_uc004cdw.4_Missense_Mutation_p.P841S|ADAMTS13_uc004cdx.4_Missense_Mutation_p.P810S|ADAMTS13_uc004cdy.1_Non-coding_Transcript|ADAMTS13_uc004cdz.4_Missense_Mutation_p.P511S|ADAMTS13_uc004cdr.1_Non-coding_Transcript|ADAMTS13_uc004cds.1_Missense_Mutation_p.P366S NM_139025 NP_620594 Q76LX8 ATS13_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 13 (ADAMTS13), transcript variant 1, mRNA. 841 TSP type-1 4. cell-matrix adhesion|glycoprotein metabolic process|integrin-mediated signaling pathway|peptide catabolic process|platelet activation|protein processing|proteolysis cell surface|proteinaceous extracellular matrix calcium ion binding|integrin binding|metalloendopeptidase activity|zinc ion binding central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(4) 36 OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05) CCTGGAGGCTCCAGTGACTGA 0.642000 5 49 0 0 1 0 0 SLC22A14 9389 broad.mit.edu 37 3 38349109 38349109 + Missense_Mutation SNP G A A rs144855969 byFrequency TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr3:38349109G>A uc003cib.2 + 2 746 c.673G>A c.(673-675)Ggc>Agc p.G225S SLC22A14_uc010hhc.1_Missense_Mutation_p.G225S|SLC22A14_uc003cia.2_3'UTR|SLC22A14_uc011ayo.1_Non-coding_Transcript NM_004803 NP_004794 Q9Y267 S22AE_HUMAN Homo sapiens solute carrier family 22, member 14 (SLC22A14), mRNA. 225 integral to plasma membrane organic cation transmembrane transporter activity p.F224F(1) central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1) 21 KIRC - Kidney renal clear cell carcinoma(284;0.0554)|Kidney(284;0.0696) GATCATCTTCGGCTTTGGGAC 0.562000 95 103 0 0 1 0 0 OR10K1 391109 broad.mit.edu 37 1 158435982 158435982 + Silent SNP C T T rs149900631 TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr1:158435982C>T uc010pij.2 + 0 631 c.631C>T c.(631-633)Ctg>Ttg p.L211L NM_001004473 NP_001004473 Q8NGX5 O10K1_HUMAN Homo sapiens olfactory receptor, family 10, subfamily K, member 1 (OR10K1), mRNA. 211 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1) 27 all_hematologic(112;0.0378) GGTCATTCCTCTGCTACTTAT 0.488000 97 152 0 0 1 0 0 SMC1B 27127 broad.mit.edu 37 22 45750966 45750967 + Missense_Mutation DNP GG AA AA TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr22:45750966_45750967GG>AA uc003bgc.3 - 19 3042_3043 c.2990_2991CC>TT c.(2989-2991)gcc>gTT p.A997V SMC1B_uc003bgd.3_Missense_Mutation_p.A997V NM_148674 NP_683515 Q8NDV3 SMC1B_HUMAN Homo sapiens structural maintenance of chromosomes 1B (SMC1B), mRNA. 997 chromosome organization|meiosis chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nucleus ATP binding breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 37 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.0182) GCCTAAGGTGGGCCTCGATTTC 0.470000 7 49 0 0 1 0 0 PTHLH 5744 broad.mit.edu 37 12 28116538 28116538 + Silent SNP C T T TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr12:28116538C>T uc001rik.3 - 2 570 c.267G>A c.(265-267)aaG>aaA p.K89K PTHLH_uc001ril.3_Silent_p.K89K|PTHLH_uc001rim.3_Silent_p.K89K|PTHLH_uc001rin.3_Silent_p.K89K NM_198966 NP_945317 P12272 PTHR_HUMAN Homo sapiens parathyroid hormone-like hormone (PTHLH), transcript variant 4, mRNA. 89 activation of adenylate cyclase activity by G-protein signaling pathway|cAMP metabolic process|cell-cell signaling|epidermis development|female pregnancy|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|positive regulation of cAMP biosynthetic process|positive regulation of cell proliferation cytoplasm|extracellular space|nucleus hormone activity|peptide hormone receptor binding breast(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)|stomach(1) 10 Lung SC(9;0.184) CGGGGTGGTTCTTTGTGTTGG 0.517000 151 112 0 0 1 0 0 PDE3A 5139 broad.mit.edu 37 12 20792884 20792884 + Missense_Mutation SNP T G G TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr12:20792884T>G uc001reh.2 + 9 2284 c.2244T>G c.(2242-2244)gaT>gaG p.D748E PDE3A_uc021qwa.1_Missense_Mutation_p.D426E NM_000921 NP_000912 Q14432 PDE3A_HUMAN Homo sapiens phosphodiesterase 3A, cGMP-inhibited (PDE3A), transcript variant 1, mRNA. 748 Catalytic (By similarity). lipid metabolic process|platelet activation|signal transduction cytosol|integral to membrane 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 58 Esophageal squamous(101;0.125) Breast(259;0.134) Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277) GATATAGGGATATTCCTTGTA 0.323000 23 15 0 0 1 0 0 CFHR5 81494 broad.mit.edu 37 1 196953113 196953113 + Silent SNP G A A TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr1:196953113G>A uc001gts.4 + 2 404 c.276G>A c.(274-276)gtG>gtA p.V92V NM_030787 NP_110414 Q9BXR6 FHR5_HUMAN Homo sapiens complement factor H-related 5 (CFHR5), mRNA. 92 Sushi 2. complement activation, alternative pathway extracellular region NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2) 49 TTCCTTTTGTGAAAAATGGTC 0.313000 27 23 0 0 1 0 0 PRMT1 3276 broad.mit.edu 37 19 50189967 50189967 + Missense_Mutation SNP C T T TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr19:50189967C>T uc010enf.2 + 9 1145 c.1016C>T c.(1015-1017)cCc>cTc p.P339L PRMT1_uc021uxu.1_Missense_Mutation_p.P315L|PRMT1_uc002ppe.3_Missense_Mutation_p.P321L|PRMT1_uc021uxv.1_Missense_Mutation_p.P253L|PRMT1_uc010ybb.2_5'Flank|C19orf76_uc002pph.2_5'Flank NM_001536 NP_001527 Q8WUW5 Q8WUW5_HUMAN Homo sapiens protein arginine methyltransferase 1 (PRMT1), transcript variant 1, mRNA. 320 cytoplasm protein methyltransferase activity cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|ovary(2) 12 all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728) OV - Ovarian serous cystadenocarcinoma(262;0.00103)|GBM - Glioblastoma multiforme(134;0.012) GGCATGCGGCCCAACGCCAAG 0.637000 48 32 0 0 1 0 0 CACNB2 783 broad.mit.edu 37 10 18828394 18828394 + Missense_Mutation SNP C T T TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr10:18828394C>T uc001ipr.2 + 13 1784 c.1724C>T c.(1723-1725)tCc>tTc p.S575F CACNB2_uc001ipt.2_Missense_Mutation_p.S537F|CACNB2_uc009xjz.1_Missense_Mutation_p.S325F|CACNB2_uc001ips.2_Missense_Mutation_p.S551F|CACNB2_uc001ipu.3_Missense_Mutation_p.S547F|CACNB2_uc001ipv.3_Missense_Mutation_p.S523F|CACNB2_uc009xka.2_Missense_Mutation_p.S509F|CACNB2_uc001ipw.2_Missense_Mutation_p.S482F|CACNB2_uc001ipx.2_Missense_Mutation_p.S520F|CACNB2_uc001ipz.2_Missense_Mutation_p.S497F|CACNB2_uc001ipy.2_Missense_Mutation_p.S521F|CACNB2_uc010qco.1_Missense_Mutation_p.S489F|CACNB2_uc001iqa.2_Missense_Mutation_p.S527F|NSUN6_uc001iqb.3_Intron NM_201596 NP_963890 Q08289 CACB2_HUMAN Homo sapiens calcium channel, voltage-dependent, beta 2 subunit (CACNB2), transcript variant 2, mRNA. 575 axon guidance|neuromuscular junction development integral to plasma membrane|sarcolemma|voltage-gated calcium channel complex protein binding|voltage-gated calcium channel activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2) 31 Magnesium Sulfate(DB00653)|Verapamil(DB00661) GAAGATTATTCCCATGACCAC 0.582000 60 50 0 0 1 0 0 ACTR3B 57180 broad.mit.edu 37 7 152551615 152551615 + Missense_Mutation SNP C T T rs147963548 byFrequency TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr7:152551615C>T uc003wle.1 + 11 1351 c.1234C>T c.(1234-1236)Ccc>Tcc p.P412S ACTR3B_uc003wlf.1_Missense_Mutation_p.P342S|ACTR3B_uc003wlg.1_Missense_Mutation_p.P324S|ACTR3B_uc011kvp.1_Missense_Mutation_p.P324S NM_020445 NP_065178 Q9P1U1 ARP3B_HUMAN Homo sapiens ARP3 actin-related protein 3 homolog B (yeast) (ACTR3B), transcript variant 1, mRNA. 412 regulation of actin filament polymerization cell projection|cytoplasm|cytoskeleton ATP binding|actin binding breast(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1) 13 all_hematologic(28;0.0592)|Prostate(32;0.191) OV - Ovarian serous cystadenocarcinoma(82;0.0287) UCEC - Uterine corpus endometrioid carcinoma (81;0.0434) CCGCCACAACCCCGTCTTTGG 0.562000 45 52 0 0 1 0 0 HADH 3033 broad.mit.edu 37 4 108948914 108948914 + Missense_Mutation SNP G A A TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr4:108948914G>A uc003hyq.3 + 5 926 c.707G>A c.(706-708)cGa>cAa p.R236Q HADH_uc010ilx.3_Missense_Mutation_p.R236Q|HADH_uc003hyr.3_Missense_Mutation_p.R240Q NM_005327 NP_005318 Q16836 HCDH_HUMAN Homo sapiens hydroxyacyl-CoA dehydrogenase (HADH), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA. 236 fatty acid beta-oxidation mitochondrial matrix 3-hydroxyacyl-CoA dehydrogenase activity|NAD+ binding endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(2)|upper_aerodigestive_tract(3) 15 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.000168) NADH(DB00157) CTGTATGAACGAGGTATCCTT 0.527000 26 30 0 0 1 0 0 TRIM69 140691 broad.mit.edu 37 15 45052046 45052046 + Missense_Mutation SNP G A A TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr15:45052046G>A uc001zuf.2 + 6 1832 c.937G>A c.(937-939)Gaa>Aaa p.E313K TRIM69_uc001zug.1_Missense_Mutation_p.E313K|TRIM69_uc001zuh.1_Missense_Mutation_p.E154K|TRIM69_uc001zui.1_Missense_Mutation_p.E109K|TRIM69_uc010bdy.1_Missense_Mutation_p.E92K NM_182985 NP_892030 Q86WT6 TRI69_HUMAN Homo sapiens tripartite motif containing 69 (TRIM69), transcript variant a, mRNA. 313 B30.2/SPRY. apoptosis nuclear speck zinc ion binding cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(9)|skin(1) 20 all_cancers(109;2.47e-13)|all_epithelial(112;2.84e-11)|Lung NSC(122;2.23e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122) all cancers(107;5.5e-19)|GBM - Glioblastoma multiforme(94;1.07e-06)|Colorectal(105;0.138)|COAD - Colon adenocarcinoma(120;0.141) GGTATGGAGGGAAATGCAGGA 0.488000 106 56 0 0 1 0 0 FAM120C 54954 broad.mit.edu 37 X 54162998 54162998 + Missense_Mutation SNP C T T TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chrX:54162998C>T uc004dsz.4 - 4 1267 c.1184G>A c.(1183-1185)cGa>cAa p.R395Q FAM120C_uc011moh.2_Missense_Mutation_p.R395Q NM_017848 NP_060318 Q9NX05 F120C_HUMAN Homo sapiens family with sequence similarity 120C (FAM120C), transcript variant 1, mRNA. 395 breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 28 TTTCTTGAATCGCTCTATTTT 0.398000 5 29 0 0 1 0 0 CPAMD8 27151 broad.mit.edu 37 19 17132982 17132982 + Silent SNP C T T TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr19:17132982C>T uc002nfb.3 - 1 275 c.243G>A c.(241-243)ttG>ttA p.L81L NM_015692 NP_056507 Q8IZJ3 CPMD8_HUMAN Homo sapiens C3 and PZP-like, alpha-2-macroglobulin domain containing 8 (CPAMD8), mRNA. 34 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 GAGCTGCAATCAAGTAACCCC 0.587000 15 12 0 0 1 0 0 DHTKD1 55526 broad.mit.edu 37 10 12129700 12129700 + Missense_Mutation SNP T C C TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr10:12129700T>C uc001ild.4 + 3 788 c.689T>C c.(688-690)tTg>tCg p.L230S NM_018706 NP_061176 Q96HY7 DHTK1_HUMAN Homo sapiens dehydrogenase E1 and transketolase domain containing 1 (DHTKD1), nuclear gene encoding mitochondrial protein, mRNA. 230 glycolysis mitochondrion oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1) 44 Renal(717;0.228) BRCA - Breast invasive adenocarcinoma(52;0.188) CTGAATTTATTGACAGGCCTT 0.458000 37 35 0 0 1 0 0 WBP1 23559 broad.mit.edu 37 2 74686871 74686871 + Splice_Site SNP G A A TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr2:74686871G>A uc002slj.2 + 2 375 c.172_splice c.e2+1 p.W58_splice INO80B_uc002sli.2_Splice_Site|WBP1_uc002sll.2_Splice_Site NM_012477 NP_036609 Q96G27 WBP1_HUMAN Homo sapiens WW domain binding protein 1 (WBP1), mRNA. 58 WW domain binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1) 8 ATGAGCTCTGGTGTAAGTCTC 0.567000 81 60 0 0 1 0 0 IGSF21 84966 broad.mit.edu 37 1 18691758 18691758 + Silent SNP C T T TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr1:18691758C>T uc001bau.2 + 5 965 c.582C>T c.(580-582)ccC>ccT p.P194P IGSF21_uc001bav.2_Silent_p.P15P NM_032880 NP_116269 Q96ID5 IGS21_HUMAN Homo sapiens immunoglobin superfamily, member 21 (IGSF21), mRNA. 194 extracellular region endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 40 Colorectal(325;0.000147)|Renal(390;0.00145)|all_lung(284;0.00366)|Lung NSC(340;0.00376)|Breast(348;0.00387)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439) UCEC - Uterine corpus endometrioid carcinoma (279;0.0121)|BRCA - Breast invasive adenocarcinoma(304;5.52e-05)|Kidney(64;0.00103)|KIRC - Kidney renal clear cell carcinoma(64;0.0102)|STAD - Stomach adenocarcinoma(196;0.0118)|READ - Rectum adenocarcinoma(331;0.157) ACGCAGTGCCCCTATCAGAGC 0.547000 71 53 0 0 1 0 0 DGKI 9162 broad.mit.edu 37 7 137237241 137237241 + Missense_Mutation SNP G A A TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr7:137237241G>A uc003vtt.3 - 19 2022 c.2021C>T c.(2020-2022)tCc>tTc p.S674F DGKI_uc003vtu.3_Missense_Mutation_p.S374F NM_004717 NP_004708 O75912 DGKI_HUMAN Homo sapiens diacylglycerol kinase, iota (DGKI), mRNA. 674 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation nucleus|plasma membrane ATP binding|diacylglycerol kinase activity|metal ion binding breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 84 CATGGGGATGGATTTGTAAGT 0.527000 116 69 0 0 1 0 0 GPR64 10149 broad.mit.edu 37 X 19031931 19031931 + Silent SNP C T T TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chrX:19031931C>T uc004cyx.3 - 15 1214 c.972G>A c.(970-972)acG>acA p.T324T GPR64_uc004cze.3_Silent_p.T294T|GPR64_uc004cza.3_Silent_p.T302T|GPR64_uc004czf.3_Silent_p.T286T|GPR64_uc004cyy.3_Silent_p.T321T|GPR64_uc004czc.3_Silent_p.T308T|GPR64_uc004cyz.3_Silent_p.T310T|GPR64_uc004czb.3_Silent_p.T324T|GPR64_uc004czd.3_Silent_p.T300T|GPR64_uc004cyw.3_Silent_p.T308T|GPR64_uc010nfj.3_Silent_p.T294T NM_001079858 NP_001073327 Q8IZP9 GPR64_HUMAN Homo sapiens G protein-coupled receptor 64 (GPR64), transcript variant 1, mRNA. 324 neuropeptide signaling pathway|spermatogenesis cytoplasm|integral to plasma membrane G-protein coupled receptor activity breast(5)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(18)|stomach(1)|urinary_tract(1) 42 Hepatocellular(33;0.183) GGGAAGAGATCGTTTCAGACT 0.562000 8 152 0 0 1 0 0 USH2A 7399 broad.mit.edu 37 1 215844348 215844348 + Missense_Mutation SNP G A A TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr1:215844348G>A uc001hku.1 - 63 14486 c.14099C>T c.(14098-14100)tCc>tTc p.S4700F NM_206933 NP_996816 O75445 USH2A_HUMAN Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA. 4700 Fibronectin type-III 32. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) CAATAGTTCGGAATCTATAAA 0.368000 HNSCC(13;0.011) 70 55 0 0 1 0 0 OTOGL 283310 broad.mit.edu 37 12 80752049 80752049 + Missense_Mutation SNP C T T TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr12:80752049C>T uc001szd.3 + 48 6020 c.6014C>T c.(6013-6015)cCt>cTt p.P2005L OTOGL_uc021rba.1_Missense_Mutation_p.P24L|OTOGL_uc009zsg.2_5'UTR NM_173591 NP_775862 Homo sapiens otogelin-like (OTOGL), mRNA. breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1) 23 TGCACCAAACCTGTTCCACTA 0.343000 2 13 0 0 1 0 0 MC5R 4161 broad.mit.edu 37 18 13826480 13826480 + Missense_Mutation SNP C T T TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr18:13826480C>T uc010xaf.2 + 0 938 c.716C>T c.(715-717)aCc>aTc p.T239I NM_005913 NP_005904 P33032 MC5R_HUMAN Homo sapiens melanocortin 5 receptor (MC5R), mRNA. 239 G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process integral to plasma membrane melanocortin receptor activity|protein binding p.T239I(4) NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|upper_aerodigestive_tract(1) 41 GGCGCGGTCACCGTCACCATG 0.617000 165 145 0 0 1 0 0 OSBPL6 114880 broad.mit.edu 37 2 179260239 179260239 + Nonsense_Mutation SNP C T T TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr2:179260239C>T uc002uly.3 + 25 3377 c.2833C>T c.(2833-2835)Cga>Tga p.R945* MIR548N_uc021vsx.1_Intron|OSBPL6_uc002ulx.3_Nonsense_Mutation_p.R920*|OSBPL6_uc010zfe.2_Nonsense_Mutation_p.R889*|OSBPL6_uc002ulz.3_Nonsense_Mutation_p.R884*|OSBPL6_uc002uma.3_Nonsense_Mutation_p.R924* NM_001201480 NP_001188409 Q9BZF3 OSBL6_HUMAN Homo sapiens oxysterol binding protein-like 6 (OSBPL6), transcript variant 3, mRNA. 920 lipid transport lipid binding p.R920*(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 46 OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335) CTGGGAGCTTCGAAAGGACCC 0.393000 51 33 0 0 1 0 0 BDP1 55814 broad.mit.edu 37 5 70856009 70856009 + Missense_Mutation SNP C T T TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr5:70856009C>T uc003kbp.1 + 36 7704 c.7441C>T c.(7441-7443)Cct>Tct p.P2481S BDP1_uc003kbq.1_Non-coding_Transcript|BDP1_uc003kbr.1_Non-coding_Transcript NM_018429 NP_060899 A6H8Y1 BDP1_HUMAN Homo sapiens B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB (BDP1), mRNA. 2481 regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter nucleoplasm DNA binding p.P2481A(2) NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 72 Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50) TGATGCTGCTCCTAAGTCTCA 0.403000 34 34 0 0 1 0 0 BZRAP1 9256 broad.mit.edu 37 17 56386309 56386309 + Nonsense_Mutation SNP G A A TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr17:56386309G>A uc002ivx.4 - 21 5195 c.4324C>T c.(4324-4326)Cga>Tga p.R1442* BZRAP1_uc002ivw.3_5'Flank|BZRAP1_uc010dcs.3_Nonsense_Mutation_p.R1382*|BZRAP1_uc010wnt.2_Nonsense_Mutation_p.R1442* NM_004758 NP_004749 O95153 RIMB1_HUMAN Homo sapiens benzodiazapine receptor (peripheral) associated protein 1 (BZRAP1), transcript variant 1, mRNA. 1442 mitochondrion benzodiazepine receptor binding p.G1441*(1) cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 54 Medulloblastoma(34;0.127)|all_neural(34;0.237) GGGCCCAGTCGTCCAGAGGCC 0.692000 78 69 0 0 1 0 0 COL5A1 1289 broad.mit.edu 37 9 137666738 137666739 + Missense_Mutation DNP CC TT TT TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr9:137666738_137666739CC>TT uc004cfe.3 + 26 2747_2748 c.2365_2366CC>TT c.(2365-2367)cca>TTa p.P789L NM_000093 NP_000084 P20908 CO5A1_HUMAN Homo sapiens collagen, type V, alpha 1 (COL5A1), mRNA. 789 Triple-helical region. axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells collagen type V heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 115 Myeloproliferative disorder(178;0.0341) all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131) GATTGGCTACCCAGGTCCTCGA 0.594000 0 10 0 0 1 0 0 IL31RA 133396 broad.mit.edu 37 5 55192199 55192199 + Nonsense_Mutation SNP G A A TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr5:55192199G>A uc003jql.3 + 6 986 c.794G>A c.(793-795)tGg>tAg p.W265* IL31RA_uc003jqk.3_Nonsense_Mutation_p.W265*|IL31RA_uc011cqj.2_Nonsense_Mutation_p.W123*|IL31RA_uc003jqm.3_Nonsense_Mutation_p.W246*|IL31RA_uc003jqn.3_Nonsense_Mutation_p.W265*|IL31RA_uc010iwa.1_Nonsense_Mutation_p.W233*|IL31RA_uc021xyq.1_Nonsense_Mutation_p.W246*|IL31RA_uc003jqo.3_Nonsense_Mutation_p.W123* NM_139017 NP_001229568 Q8NI17 IL31R_HUMAN Homo sapiens interleukin 31 receptor A (IL31RA), transcript variant 1, mRNA. 233 Fibronectin type-III 3. JAK-STAT cascade|MAPKKK cascade|anti-apoptosis|defense response|homeostatic process|macrophage differentiation|monocyte differentiation|negative regulation of macrophage activation|positive regulation of cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|transmembrane receptor protein tyrosine kinase signaling pathway integral to membrane|plasma membrane cytokine receptor activity|protein kinase binding|transcription coactivator activity endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|stomach(1) 21 Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223) CTGGAACTGTGGAGAGTCCTG 0.512000 65 63 0 0 1 0 0 CCDC33 80125 broad.mit.edu 37 15 74560799 74560799 + Splice_Site SNP G A A TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr15:74560799G>A uc002axo.3 + 5 940 c.546_splice c.e5+1 p.E182_splice CCDC33_uc002axp.3_Splice_Site_p.E4_splice NM_025055 NP_079331 Q8N5R6 CCD33_HUMAN Homo sapiens coiled-coil domain containing 33 (CCDC33), transcript variant 1, mRNA. 385 protein binding breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 39 TGGCTCTGGAGGTACCAGGGC 0.627000 24 33 0 0 1 0 0 FLG 2312 broad.mit.edu 37 1 152284339 152284339 + Missense_Mutation SNP G A A rs142264996 TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr1:152284339G>A uc001ezu.1 - 2 3059 c.3023C>T c.(3022-3024)cCt>cTt p.P1008L AK056431_uc001ezv.3_5'Flank NM_002016 NP_002007 P20930 FILA_HUMAN Homo sapiens filaggrin (FLG), mRNA. 1008 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CTCTGCGTGAGGAGTTCCTGA 0.582000 Ichthyosis 622 286 0 0 1 0 0 ZFHX4 79776 broad.mit.edu 37 8 77617473 77617473 + Missense_Mutation SNP G A A TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr8:77617473G>A uc003yau.2 + 1 1537 c.1150G>A c.(1150-1152)Gga>Aga p.G384R ZFHX4_uc003yat.1_Missense_Mutation_p.G384R|ZFHX4_uc003yaw.1_Missense_Mutation_p.G384R NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA. 384 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6) 432 BRCA - Breast invasive adenocarcinoma(89;0.0895) CTTCTTAAAAGGAAGCGCGAG 0.517000 HNSCC(33;0.089) 42 38 0 0 1 0 0 C11orf46 120534 broad.mit.edu 37 11 30354525 30354526 + Missense_Mutation DNP CC TT TT TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr11:30354525_30354526CC>TT uc001mso.1 + 2 703_704 c.539_540CC>TT c.(538-540)acc>aTT p.T180I NM_152316 NP_689529 Q8N8R7 CK046_HUMAN Homo sapiens chromosome 11 open reading frame 46 (C11orf46), mRNA. 180 T -> P (in dbSNP:rs7940297). cervix(1)|endometrium(1)|kidney(2)|lung(7) 11 AAAAATGCAACCGCTGGTTCAG 0.371000 27 22 0 0 1 0 0 RORC 6097 broad.mit.edu 37 1 151786020 151786020 + Missense_Mutation SNP C T T TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr1:151786020C>T uc001ezh.3 - 6 1118 c.1010G>A c.(1009-1011)aGg>aAg p.R337K RORC_uc001ezg.3_Missense_Mutation_p.R316K|RORC_uc010pdo.2_Missense_Mutation_p.R391K|RORC_uc010pdp.2_Missense_Mutation_p.R337K NM_005060 NP_005051 P51449 RORG_HUMAN Homo sapiens RAR-related orphan receptor C (RORC), transcript variant 1, mRNA. 337 Ligand-binding. regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(1)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14) LUSC - Lung squamous cell carcinoma(543;0.181) GCCTGAGAGCCTCTTGGCGAA 0.612000 106 45 0 0 1 0 0 PPAP2B 8613 broad.mit.edu 37 1 56977694 56977694 + Missense_Mutation SNP T C C TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr1:56977694T>C uc001cyj.2 - 4 1332 c.764A>G c.(763-765)gAt>gGt p.D255G NM_003713 NP_003704 O14495 LPP3_HUMAN Homo sapiens phosphatidic acid phosphatase type 2B (PPAP2B), mRNA. 255 canonical Wnt receptor signaling pathway involved in positive regulation of cell-cell adhesion|canonical Wnt receptor signaling pathway involved in positive regulation of endothelial cell migration|canonical Wnt receptor signaling pathway involved in positive regulation of wound healing|germ cell migration|homotypic cell-cell adhesion|negative regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|sphingolipid metabolic process Golgi apparatus|adherens junction|integral to membrane phosphatidate phosphatase activity|phosphoprotein phosphatase activity|protein binding|sphingosine-1-phosphate phosphatase activity cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 17 TGCCAGAACATCACTGGGATG 0.557000 93 78 0 0 1 0 0 NCR2 9436 broad.mit.edu 37 6 41318537 41318537 + Missense_Mutation SNP G A A TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr6:41318537G>A uc003oqh.2 + 4 853 c.766G>A c.(766-768)Gaa>Aaa p.E256K NCR2_uc003oqj.2_3'UTR|NCR2_uc003oqi.2_3'UTR NM_004828 NP_004819 O95944 NCTR2_HUMAN Homo sapiens natural cytotoxicity triggering receptor 2 (NCR2), transcript variant 1, mRNA. 256 cellular defense response integral to plasma membrane transmembrane receptor activity p.R255K(1) NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1) 14 Ovarian(28;0.0327)|Colorectal(47;0.196) tgtagagagagaaatattata 0.423000 30 40 0 0 1 0 0 FSHR 2492 broad.mit.edu 37 2 49190277 49190277 + Silent SNP G A A TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr2:49190277G>A uc002rww.3 - 9 1793 c.1683C>T c.(1681-1683)atC>atT p.I561I FSHR_uc010fbn.3_Silent_p.I535I|FSHR_uc002rwx.3_Silent_p.I499I NM_000145 NP_000136 P23945 FSHR_HUMAN Homo sapiens follicle stimulating hormone receptor (FSHR), transcript variant 1, mRNA. 561 female gamete generation|male gonad development|spermatogenesis integral to membrane|plasma membrane follicle-stimulating hormone receptor activity|protein binding p.I561I(2) NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 73 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094) AGGAGGACACGATGTTGGGGT 0.517000 Gonadal Dysgenesis, 46 XX 38 46 0 0 1 0 0 DNAJB7 150353 broad.mit.edu 37 22 41257776 41257776 + Missense_Mutation SNP C T T TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr22:41257776C>T uc003azj.3 - 0 355 c.223G>A c.(223-225)Gga>Aga p.G75R XPNPEP3_uc011aox.2_Intron|XPNPEP3_uc003azh.3_Intron|XPNPEP3_uc003azi.3_Intron|XPNPEP3_uc011aoy.1_5'Flank|XPNPEP3_uc003azf.2_3'UTR|XPNPEP3_uc003azg.2_Non-coding_Transcript|XPNPEP3_uc010gyh.1_5'Flank NM_145174 NP_660157 Q7Z6W7 DNJB7_HUMAN Homo sapiens DnaJ (Hsp40) homolog, subfamily B, member 7 (DNAJB7), mRNA. 75 protein folding heat shock protein binding|unfolded protein binding breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1) 10 CTTCCACCTCCGTTTAATCCT 0.363000 8 51 0 0 1 0 0 ADD3 120 broad.mit.edu 37 10 111881905 111881905 + Missense_Mutation SNP T C C TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr10:111881905T>C uc001kyu.3 + 8 1154 c.998T>C c.(997-999)cTc>cCc p.L333P ADD3_uc001kyt.4_Missense_Mutation_p.L333P|ADD3_uc001kys.4_Missense_Mutation_p.L333P|ADD3_uc001kyv.3_Missense_Mutation_p.L333P|ADD3_uc001kyw.3_Missense_Mutation_p.L333P|ADD3_uc001kyx.3_5'Flank NM_016824 NP_058432 Q9UEY8 ADDG_HUMAN Homo sapiens adducin 3 (gamma) (ADD3), transcript variant 1, mRNA. 333 cytoskeleton actin binding|calmodulin binding|metal ion binding|structural constituent of cytoskeleton central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(3) 29 Breast(234;0.052)|Lung NSC(174;0.223) Epithelial(162;4.15e-05)|all cancers(201;0.000587)|BRCA - Breast invasive adenocarcinoma(275;0.0742) GTAGACAATCTCCATGTACTG 0.413000 48 44 0 0 1 0 0 CD101 9398 broad.mit.edu 37 1 117564249 117564249 + Missense_Mutation SNP C T T TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr1:117564249C>T uc010oxb.1 + 6 2130 c.2072C>T c.(2071-2073)tCc>tTc p.S691F CD101_uc009whd.3_Missense_Mutation_p.S691F|CD101_uc010oxc.1_Missense_Mutation_p.S691F|CD101_uc010oxd.1_Missense_Mutation_p.S629F NM_004258 NP_004249 Q93033 IGSF2_HUMAN Homo sapiens CD101 molecule (CD101), transcript variant 1, mRNA. 691 Ig-like C2-type 6. cell surface receptor linked signaling pathway integral to membrane|plasma membrane hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(14)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 49 TCCATCAACTCCAACACTGAT 0.373000 11 14 0 0 1 0 0 TP53BP2 7159 broad.mit.edu 37 1 223984185 223984185 + Missense_Mutation SNP G A A TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr1:223984185G>A uc001hod.3 - 13 2480 c.1669C>T c.(1669-1671)Cct>Tct p.P557S TP53BP2_uc010pvb.2_Missense_Mutation_p.P686S|TP53BP2_uc010puz.2_5'UTR|TP53BP2_uc010pva.2_Missense_Mutation_p.P325S NM_005426 NP_005417 Q13625 ASPP2_HUMAN Homo sapiens tumor protein p53 binding protein, 2 (TP53BP2), transcript variant 2, mRNA. 680 apoptosis|cell cycle|induction of apoptosis|negative regulation of cell cycle|signal transduction nucleus|perinuclear region of cytoplasm NF-kappaB binding|SH3 domain binding|SH3/SH2 adaptor activity|protein binding NS(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(2) 29 GBM - Glioblastoma multiforme(131;0.0958) GAAGAAACAGGCTCTGTTTCA 0.463000 105 86 0 0 1 0 0 NAALADL2 254827 broad.mit.edu 37 3 175520927 175520927 + Missense_Mutation SNP C T T TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr3:175520927C>T uc003fit.3 + 13 2411 c.2324C>T c.(2323-2325)tCa>tTa p.S775L NM_207015 NP_996898 Q58DX5 NADL2_HUMAN Homo sapiens N-acetylated alpha-linked acidic dipeptidase-like 2 (NAALADL2), mRNA. 775 proteolysis integral to membrane peptidase activity central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4) 49 Ovarian(172;0.0102) all_cancers(1;0.0272)|all_epithelial(1;0.0553) OV - Ovarian serous cystadenocarcinoma(80;9.26e-28) Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284) AGCATTAATTCAGCTCAGGTT 0.403000 23 15 0 0 1 0 0 KIAA0753 9851 broad.mit.edu 37 17 6493211 6493211 + Missense_Mutation SNP G A A TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr17:6493211G>A uc002gde.4 - 17 3033 c.2674C>T c.(2674-2676)Cca>Tca p.P892S KIAA0753_uc010vtd.2_Missense_Mutation_p.P348S|KIAA0753_uc010clo.3_Missense_Mutation_p.P593S|KIAA0753_uc010vte.2_Missense_Mutation_p.P593S NM_014804 NP_055619 Q2KHM9 K0753_HUMAN Homo sapiens KIAA0753 (KIAA0753), mRNA. 892 centrosome endometrium(4)|large_intestine(11)|lung(5)|prostate(4) 24 COAD - Colon adenocarcinoma(228;0.157) ATACCCGGTGGGACAAAGAGG 0.527000 48 45 0 0 1 0 0 OR10J3 441911 broad.mit.edu 37 1 159284199 159284199 + Missense_Mutation SNP G A A TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr1:159284199G>A uc010piu.2 - 0 251 c.251C>T c.(250-252)tCt>tTt p.S84F NM_001004467 NP_001004467 Q5JRS4 O10J3_HUMAN Homo sapiens olfactory receptor, family 10, subfamily J, member 3 (OR10J3), mRNA. 84 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(19)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 47 all_hematologic(112;0.0429) CAAGAGACCAGAAAGCATATG 0.507000 174 89 0 0 1 0 0 SIN3A 25942 broad.mit.edu 37 15 75693113 75693113 + Silent SNP G A A TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr15:75693113G>A uc002bai.3 - 10 1954 c.1695C>T c.(1693-1695)taC>taT p.Y565Y SIN3A_uc002baj.3_Silent_p.Y565Y|SIN3A_uc010uml.2_Silent_p.Y565Y NM_015477 NP_056292 Q96ST3 SIN3A_HUMAN Homo sapiens SIN3 transcription regulator homolog A (yeast) (SIN3A), transcript variant 2, mRNA. 565 Interaction with NCOR1 (By similarity).|Interactions with SUDS3 and SAP130. blood coagulation|cellular lipid metabolic process|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent Sin3 complex|nucleolus protein binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2) 63 TGGGCTGCTGGTAACTCTTTG 0.502000 18 12 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9077822 9077822 + Silent SNP G A A TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr19:9077822G>A uc002mkp.3 - 2 9828 c.9624C>T c.(9622-9624)atC>atT p.I3208I NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 3209 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 TGGAGCTCATGATTTTGAGAG 0.463000 101 75 0 0 1 0 0 NSMAF 8439 broad.mit.edu 37 8 59512394 59512394 + Missense_Mutation SNP A C C TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr8:59512394A>C uc011lee.2 - 17 1522 c.1461T>G c.(1459-1461)ttT>ttG p.F487L NSMAF_uc003xtt.3_Missense_Mutation_p.F456L NM_001144772 NP_001138244 Q92636 FAN_HUMAN Homo sapiens neutral sphingomyelinase (N-SMase) activation associated factor (NSMAF), transcript variant 2, mRNA. 456 BEACH. ceramide metabolic process cytoplasm|soluble fraction protein binding|receptor signaling protein activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1) 38 all_lung(136;0.174)|Lung NSC(129;0.2) TATTGACTAGAAAGCTCACAT 0.433000 45 51 0 0 1 0 0 PCDHAC2 56134 broad.mit.edu 37 5 140183076 140183076 + Missense_Mutation SNP C T T rs140331962 TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr5:140183076C>T uc003lhf.2 + 0 2294 c.2294C>T c.(2293-2295)cCc>cTc p.P765L PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc011czy.2_Intron|PCDHAC2_uc011czz.2_Missense_Mutation_p.P765L NM_018906 NP_061729 Q9Y5I4 PCDC2_HUMAN Homo sapiens protocadherin alpha 3 (PCDHA3), transcript variant 1, mRNA. 752 homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 45 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GAGGGGTTGCCCAAGACCGAC 0.597000 11 81 0 0 1 0 0 SLCO4C1 353189 broad.mit.edu 37 5 101576476 101576476 + Missense_Mutation SNP G A A TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr5:101576476G>A uc003knm.3 - 10 2109 c.1822C>T c.(1822-1824)Cac>Tac p.H608Y NM_180991 NP_851322 Q6ZQN7 SO4C1_HUMAN Homo sapiens solute carrier organic anion transporter family, member 4C1 (SLCO4C1), mRNA. 608 cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis basolateral plasma membrane|integral to membrane sodium-independent organic anion transmembrane transporter activity breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5) 50 all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486) Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986) CGTTGTCTGTGATTAACACAC 0.338000 61 40 0 0 1 0 0 KRT32 3882 broad.mit.edu 37 17 39622142 39622142 + Silent SNP G C C rs144482548 byFrequency TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr17:39622142G>C uc002hwr.3 - 2 652 c.591C>G c.(589-591)gcC>gcG p.A197A NM_002278 NP_002269 Q14532 K1H2_HUMAN Homo sapiens keratin 32 (KRT32), mRNA. 197 Coil 1B.|Rod. epidermis development intermediate filament protein binding|structural molecule activity central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 Breast(137;0.000812) CATTGATGTCGGCCTCCACCA 0.592000 68 70 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179585312 179585312 + Missense_Mutation SNP G A A rs17452588 by1000genomes TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr2:179585312G>A uc021vsy.1 - 76 19670 c.19445C>T c.(19444-19446)tCg>tTg p.S6482L TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.S3143L NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 7409 Ig-like 46. 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) GGGAGTTCCCGAAATTTCACA 0.383000 30 16 0 0 1 0 0 C6orf118 168090 broad.mit.edu 37 6 165715266 165715266 + Missense_Mutation SNP A G G TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr6:165715266A>G uc003qum.4 - 1 581 c.545T>C c.(544-546)tTg>tCg p.L182S C6orf118_uc011egi.1_Non-coding_Transcript NM_144980 NP_659417 Q5T5N4 CF118_HUMAN Homo sapiens chromosome 6 open reading frame 118 (C6orf118), mRNA. 182 breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 40 Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157) OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313) CAGCACCTTCAAGTCGGGCAG 0.647000 56 77 0 0 1 0 0 KLC4 89953 broad.mit.edu 37 6 43041674 43041674 + Silent SNP C T T TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr6:43041674C>T uc003otw.1 + 14 2153 c.1834C>T c.(1834-1836)Ctg>Ttg p.L612L PTK7_uc003oub.1_5'Flank|PTK7_uc003ouc.1_5'Flank|PTK7_uc003oud.1_5'Flank|PTK7_uc003oue.1_5'Flank|PTK7_uc003ouf.1_5'Flank|PTK7_uc003oug.1_5'Flank|PTK7_uc011dve.1_5'Flank|KLC4_uc003otr.1_Non-coding_Transcript|KLC4_uc003otv.1_Silent_p.L594L|KLC4_uc011dvd.1_Silent_p.L517L|KLC4_uc003otx.1_Silent_p.L594L|KLC4_uc003oty.1_Silent_p.L594L|KLC4_uc003otz.1_Silent_p.L594L|PTK7_uc003oua.3_5'Flank NM_201523 NP_958930 Q9NSK0 KLC4_HUMAN Homo sapiens kinesin light chain 4 (KLC4), transcript variant 3, mRNA. 594 cytoplasm|kinesin complex|microtubule microtubule motor activity|protein binding endometrium(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(4) 23 all cancers(41;0.00169)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0376)|KIRC - Kidney renal clear cell carcinoma(2;0.0453) CTTGAACTATCTGAACCAACC 0.537000 60 39 0 0 1 0 0 KCNK9 51305 broad.mit.edu 37 8 140631299 140631299 + Silent SNP G A A TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr8:140631299G>A uc003yvf.1 - 1 391 c.327C>T c.(325-327)ttC>ttT p.F109F KCNK9_uc003yvg.1_Silent_p.F109F|KCNK9_uc003yve.1_Non-coding_Transcript NM_016601 NP_057685 Q9NPC2 KCNK9_HUMAN Homo sapiens potassium channel, subfamily K, member 9 (KCNK9), mRNA. 109 integral to membrane|membrane fraction potassium channel activity|voltage-gated ion channel activity NS(1)|endometrium(9)|kidney(1)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1) 43 all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155) Ovarian(118;0.134) BRCA - Breast invasive adenocarcinoma(115;0.0855) AGAACATGCAGAAGGCCTTGC 0.602000 29 28 0 0 1 0 0 C3orf38 285237 broad.mit.edu 37 3 88205634 88205634 + Missense_Mutation SNP C T T TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr3:88205634C>T uc003dqw.3 + 2 1149 c.839C>T c.(838-840)tCc>tTc p.S280F NM_173824 NP_776185 Q5JPI3 CC038_HUMAN Homo sapiens chromosome 3 open reading frame 38 (C3orf38), mRNA. 280 apoptosis p.L279L(1) breast(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|urinary_tract(1) 12 Lung NSC(201;0.17) UCEC - Uterine corpus endometrioid carcinoma (27;0.194)|LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00661) GGAGAGAGTTCCCTTGCTCCT 0.368000 39 39 0 0 1 0 0 TACC2 10579 broad.mit.edu 37 10 123843107 123843107 + Silent SNP G A A TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr10:123843107G>A uc001lfv.3 + 3 1452 c.1092G>A c.(1090-1092)aaG>aaA p.K364K TACC2_uc001lfw.3_Intron|TACC2_uc009xzx.3_Silent_p.K364K|TACC2_uc010qtv.2_Silent_p.K364K NM_206862 NP_996744 O95359 TACC2_HUMAN Homo sapiens transforming, acidic coiled-coil containing protein 2 (TACC2), transcript variant 1, mRNA. 364 microtubule organizing center|nucleus nuclear hormone receptor binding NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 83 all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197) GCTCTGGGAAGGAGGCTCTGG 0.637000 69 57 0 0 1 0 0 MYLK 4638 broad.mit.edu 37 3 123452564 123452564 + Missense_Mutation SNP C T T TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr3:123452564C>T uc003ego.3 - 9 1561 c.1279G>A c.(1279-1281)Gaa>Aaa p.E427K MYLK_uc011bjw.2_Missense_Mutation_p.E427K|MYLK_uc003egp.3_Missense_Mutation_p.E427K|MYLK_uc003egq.3_Missense_Mutation_p.E427K|MYLK_uc003egr.3_Missense_Mutation_p.E427K|MYLK_uc003egs.3_Missense_Mutation_p.E251K NM_053025 NP_444253 Q15746 MYLK_HUMAN Homo sapiens myosin light chain kinase (MYLK), transcript variant 1, mRNA. 427 Ig-like C2-type 3. aorta smooth muscle tissue morphogenesis|muscle contraction cytosol ATP binding|actin binding|calmodulin binding|metal ion binding|myosin light chain kinase activity p.K426N(1) NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 113 Lung NSC(201;0.0496) GBM - Glioblastoma multiforme(114;0.0736) GTTTGATTTTCCTTGACCTCC 0.507000 86 74 0 0 1 0 0 abParts 0 broad.mit.edu 37 14 106805665 106805665 + Splice_Site SNP G A A TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr14:106805665G>A uc021ser.1 - 583 c.16288_splice c.e583-1 abParts_uc001ysw.1_5'Flank Parts of antibodies, mostly variable regions. AGGAGGTCCAGGACTCTCAGA 0.498000 45 33 0 0 1 0 0 TRPM2 7226 broad.mit.edu 37 21 45833926 45833926 + Silent SNP C T T TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr21:45833926C>T uc010gpt.1 + 19 3215 c.3115C>T c.(3115-3117)Ctg>Ttg p.L1039L TRPM2_uc002zet.1_Silent_p.L1039L|TRPM2_uc002zeu.1_Silent_p.L1039L|TRPM2_uc021wjr.1_Non-coding_Transcript|TRPM2_uc002zew.1_Silent_p.L1039L|TRPM2_uc002zex.1_Silent_p.L825L|TRPM2_uc002zey.1_Silent_p.L552L NM_003307 NP_003298 O94759 TRPM2_HUMAN Homo sapiens transient receptor potential cation channel, subfamily M, member 2 (TRPM2), transcript variant 1, mRNA. 1039 integral to plasma membrane ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 76 CACCAACATCCTGCTGCTCAA 0.662000 311 244 0 0 1 0 0 ADAMTS20 80070 broad.mit.edu 37 12 43777646 43777646 + Silent SNP G A A TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr12:43777646G>A uc010skx.2 - 29 4587 c.4587C>T c.(4585-4587)gaC>gaT p.D1529D NM_025003 NP_079279 P59510 ATS20_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 20 (ADAMTS20), mRNA. 1529 TSP type-1 12. proteinaceous extracellular matrix zinc ion binding breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1) 95 all_cancers(12;2.6e-05)|Lung SC(27;0.184) Lung NSC(34;0.0569)|all_lung(34;0.129) GBM - Glioblastoma multiforme(48;0.0473) GCTGCACACAGTCCTGACTCC 0.453000 73 53 0 0 1 0 0 IL22RA1 58985 broad.mit.edu 37 1 24460811 24460811 + Missense_Mutation SNP G A A TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr1:24460811G>A uc001biq.2 - 3 624 c.421C>T c.(421-423)Cct>Tct p.P141S IL22RA1_uc010oeg.1_Missense_Mutation_p.P33S|IL22RA1_uc009vrb.2_Missense_Mutation_p.P5S|IL22RA1_uc010oeh.2_Missense_Mutation_p.P141S NM_021258 NP_067081 Q8N6P7 I22R1_HUMAN Homo sapiens interleukin 22 receptor, alpha 1 (IL22RA1), mRNA. 141 Fibronectin type-III 2. integral to membrane interferon receptor activity breast(2)|endometrium(2)|large_intestine(4)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 19 Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000992)|all_lung(284;0.00138)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;3.84e-24)|Colorectal(126;6.43e-08)|COAD - Colon adenocarcinoma(152;3.51e-06)|GBM - Glioblastoma multiforme(114;5.06e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00911)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.148) GTGGGGGTAGGATGAACAATC 0.512000 45 40 0 0 1 0 0 SYT10 341359 broad.mit.edu 37 12 33559853 33559853 + Silent SNP G A A TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr12:33559853G>A uc001rll.1 - 2 1245 c.948C>T c.(946-948)ttC>ttT p.F316F SYT10_uc009zju.1_Silent_p.F126F NM_198992 NP_945343 Q6XYQ8 SYT10_HUMAN Homo sapiens synaptotagmin X (SYT10), mRNA. 316 C2 1. cell junction|integral to membrane|synaptic vesicle membrane metal ion binding|transporter activity NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1) 42 Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334) CATACACACTGAAATGTAGTT 0.378000 28 25 0 0 1 0 0 INPP4A 3631 broad.mit.edu 37 2 99154342 99154342 + Missense_Mutation SNP C T T TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr2:99154342C>T uc002syy.3 + 7 877 c.484C>T c.(484-486)Cgt>Tgt p.R162C INPP4A_uc010yvj.1_Missense_Mutation_p.R162C|INPP4A_uc010yvk.2_Missense_Mutation_p.R162C|INPP4A_uc002syx.3_Missense_Mutation_p.R162C|INPP4A_uc010fik.3_Intron NM_001134224 NP_001127696 Q96PE3 INP4A_HUMAN Homo sapiens inositol polyphosphate-4-phosphatase, type I, 107kDa (INPP4A), transcript variant d, mRNA. 162 signal transduction phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity p.R162C(4) breast(1)|endometrium(9)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(4)|upper_aerodigestive_tract(4) 43 AGAGAGTGACCGTGTAGGTAA 0.532000 18 13 0 0 1 0 0 SETD4 54093 broad.mit.edu 37 21 37418233 37418233 + Missense_Mutation SNP G A A TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr21:37418233G>A uc002yuw.2 - 4 1746 c.373C>T c.(373-375)Ctt>Ttt p.L125F SETD4_uc021wiy.1_Missense_Mutation_p.L125F|SETD4_uc002yuu.3_Non-coding_Transcript|SETD4_uc002yux.2_Missense_Mutation_p.L101F|SETD4_uc002yuz.3_Missense_Mutation_p.L101F|SETD4_uc002yuy.3_Missense_Mutation_p.L125F|SETD4_uc002yva.3_Missense_Mutation_p.L101F NM_017438 NP_059134 Q9NVD3 SETD4_HUMAN Homo sapiens SET domain containing 4 (SETD4), transcript variant 1, mRNA. 125 SET. p.L125V(2) autonomic_ganglia(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1) 15 GGCTTCCAAAGAGATCGGTGC 0.463000 89 65 0 0 1 0 0 WASH3P 374666 broad.mit.edu 37 15 102515299 102515299 + Missense_Mutation SNP G A A TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr15:102515299G>A uc002cdi.3 + 8 1943 c.523G>A c.(523-525)Ggc>Agc p.G175S WASH3P_uc010bpo.3_Non-coding_Transcript|WASH3P_uc002cdq.3_Non-coding_Transcript|WASH3P_uc002cdr.3_Non-coding_Transcript Homo sapiens WAS protein family homolog 3 pseudogene (WASH3P), non-coding RNA. p.G374S(10) central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1) 25 TGGGGGCATCGGCAAGGCCAA 0.652000 30 3 0 0 1 0 0 TMEM156 80008 broad.mit.edu 37 4 38995412 38995412 + Missense_Mutation SNP C T T TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr4:38995412C>T uc003gto.3 - 2 673 c.565G>A c.(565-567)Gaa>Aaa p.E189K TMEM156_uc010ifj.3_Missense_Mutation_p.E189K NM_024943 NP_079219 Q8N614 TM156_HUMAN Homo sapiens transmembrane protein 156 (TMEM156), mRNA. 189 integral to membrane endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|stomach(1) 10 TTCGGGTATTCCATGATTCTA 0.358000 62 41 0 0 1 0 0 GRIN2A 2903 broad.mit.edu 37 16 10032081 10032081 + Missense_Mutation SNP G A A TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr16:10032081G>A uc010uym.2 - 3 1052 c.742C>T c.(742-744)Ctc>Ttc p.L248F GRIN2A_uc002czo.4_Missense_Mutation_p.L248F|GRIN2A_uc010uyn.2_Missense_Mutation_p.L91F|GRIN2A_uc002czr.4_Missense_Mutation_p.L248F NM_000833 NP_001127879 Q12879 NMDE1_HUMAN Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA. 248 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|zinc ion binding NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1) 198 Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) TACCCGGTGAGGCCAAGGGAG 0.512000 73 47 0 0 1 0 0 LILRP2 79166 broad.mit.edu 37 19 55220849 55220849 + RNA SNP C T T TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr19:55220849C>T uc002qgs.1 + 0 c.1249C>T LILRP2_uc002qgt.1_Non-coding_Transcript Homo sapiens leukocyte immunoglobulin-like receptor pseudogene 2 (LILRP2), non-coding RNA. TCTCTCAGCCCTGCCGAGCCC 0.527000 32 20 0 0 1 0 0 TARBP1 6894 broad.mit.edu 37 1 234564992 234564992 + Nonsense_Mutation SNP G A A TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr1:234564992G>A uc001hwd.3 - 16 2950 c.2950C>T c.(2950-2952)Cag>Tag p.Q984* NM_005646 NP_005637 Q13395 TARB1_HUMAN Homo sapiens TAR (HIV-1) RNA binding protein 1 (TARBP1), mRNA. 984 RNA processing|regulation of transcription from RNA polymerase II promoter nucleus RNA binding|RNA methyltransferase activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4) 55 Ovarian(103;0.0339) all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172) OV - Ovarian serous cystadenocarcinoma(106;0.000263) AATATCAGCTGAGTGTTGCTT 0.358000 43 30 0 0 1 0 0 RALGAPA2 57186 broad.mit.edu 37 20 20585861 20585861 + Missense_Mutation SNP C T T TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr20:20585861C>T uc002wrz.3 - 14 2139 c.1996G>A c.(1996-1998)Gat>Aat p.D666N RALGAPA2_uc002wry.3_Missense_Mutation_p.D281N|RALGAPA2_uc010zsg.2_Missense_Mutation_p.D67N NM_020343 NP_065076 Q2PPJ7 RGPA2_HUMAN Homo sapiens Ral GTPase activating protein, alpha subunit 2 (catalytic) (RALGAPA2), mRNA. 666 activation of Ral GTPase activity cytosol|nucleus Ral GTPase activator activity|protein heterodimerization activity endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 54 CTTAATTTATCCAGAGGTAGG 0.438000 18 15 0 0 1 0 0 GHSR 2693 broad.mit.edu 37 3 172165900 172165900 + Missense_Mutation SNP G A A TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr3:172165900G>A uc003fib.2 - 0 347 c.304C>T c.(304-306)Cgc>Tgc p.R102C GHSR_uc011bpv.2_Missense_Mutation_p.R102C NM_198407 NP_940799 Q92847 GHSR_HUMAN Homo sapiens growth hormone secretagogue receptor (GHSR), transcript variant 1a, mRNA. 102 actin polymerization or depolymerization|adult feeding behavior|decidualization|growth hormone secretion|hormone-mediated signaling pathway|negative regulation of inflammatory response|negative regulation of interleukin-1 beta production|negative regulation of interleukin-6 biosynthetic process|negative regulation of tumor necrosis factor biosynthetic process|positive regulation of appetite|positive regulation of multicellular organism growth cell surface|integral to membrane|membrane raft|neuron projection|plasma membrane growth hormone secretagogue receptor activity|growth hormone-releasing hormone receptor activity biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1) 33 Ovarian(172;0.00143)|Breast(254;0.197) Lung(28;3.93e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235) TGCCAGAGGCGAACGAGGTCC 0.612000 62 48 0 0 1 0 0 C14orf180 400258 broad.mit.edu 37 14 105054644 105054644 + Missense_Mutation SNP G A A TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr14:105054644G>A uc001yow.1 + 3 576 c.275G>A c.(274-276)aGg>aAg p.R92K C14orf180_uc010tyh.1_Missense_Mutation_p.R92K|C14orf180_uc010awy.1_Missense_Mutation_p.R92K NM_001008404 NP_001008404 Q8N912 CN180_HUMAN Homo sapiens chromosome 14 open reading frame 180 (C14orf180), mRNA. 92 integral to membrane Melanoma(154;0.226) all cancers(16;0.00405)|OV - Ovarian serous cystadenocarcinoma(23;0.0319)|Epithelial(46;0.0784)|GBM - Glioblastoma multiforme(11;0.116) Epithelial(152;0.127) GCCACTGTCAGGGGTGAGTTC 0.662000 133 105 0 0 1 0 0 LMF1 64788 broad.mit.edu 37 16 920808 920808 + Missense_Mutation SNP T G G TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr16:920808T>G uc021tae.1 - 7 1157 c.1153A>C c.(1153-1155)Aac>Cac p.N385H LMF1_uc010brg.2_5'Flank|LMF1_uc010uuu.2_Missense_Mutation_p.N168H|LMF1_uc021tad.1_Missense_Mutation_p.N216H|LMF1_uc010bri.2_Missense_Mutation_p.N148H|LMF1_uc002ckk.2_Missense_Mutation_p.N168H NM_022773 NP_073610 Q96S06 LMF1_HUMAN Homo sapiens lipase maturation factor 1 (LMF1), transcript variant 1, mRNA. 385 endoplasmic reticulum membrane|integral to membrane central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1) 18 Hepatocellular(780;0.00308) CTCAGCAAGTTGAGGACCACG 0.627000 51 40 0 0 1 0 0 THPO 7066 broad.mit.edu 37 3 184091349 184091349 + Missense_Mutation SNP T G G TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr3:184091349T>G uc003fol.1 - 4 465 c.250A>C c.(250-252)Att>Ctt p.I84L THPO_uc003fom.2_Missense_Mutation_p.I84L|THPO_uc021xii.1_Missense_Mutation_p.I84L|THPO_uc003fon.3_Missense_Mutation_p.I84L|THPO_uc011bro.2_Missense_Mutation_p.I84L|THPO_uc003fop.3_Missense_Mutation_p.I84L|THPO_uc011brp.2_Missense_Mutation_p.I84L|THPO_uc011brq.2_Missense_Mutation_p.I84L|THPO_uc003for.1_Non-coding_Transcript|THPO_uc003fos.1_Non-coding_Transcript|THPO_uc003fot.1_Missense_Mutation_p.I84L|THPO_uc003fou.1_Missense_Mutation_p.I84L NM_000460 NP_000451 P40225 TPO_HUMAN Homo sapiens thrombopoietin (THPO), transcript variant 1, mRNA. 84 cell proliferation|platelet activation extracellular space cytokine activity|growth factor activity|hormone activity NS(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1) 16 all_cancers(143;6.33e-11)|Ovarian(172;0.0339) Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) GCTCCCAGAATGTCCTGTGCC 0.582000 32 25 0 0 1 0 0 ST7 7982 broad.mit.edu 37 7 116739827 116739827 + Silent SNP T C C TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr7:116739827T>C uc003vin.3 + 1 377 c.163T>C c.(163-165)Ttg>Ctg p.L55L ST7_uc011knl.2_Silent_p.L55L|ST7_uc003vio.3_Silent_p.L55L|ST7_uc003viq.3_Silent_p.L9L|ST7_uc011knm.2_Silent_p.L12L|ST7_uc003vir.3_Silent_p.L3L|ST7-AS2_uc003viu.3_Intron NM_021908 NP_068708 Q9NRC1 ST7_HUMAN Homo sapiens suppression of tumorigenicity 7 (ST7), transcript variant b, mRNA. 55 integral to membrane binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(1) 21 all_cancers(3;3.88e-07)|all_epithelial(6;3.42e-07)|Lung NSC(10;0.00072)|all_lung(10;0.000847) STAD - Stomach adenocarcinoma(10;0.000512) LUSC - Lung squamous cell carcinoma(290;0.133) GAGCATGTTTTTGAACACATT 0.388000 11 9 0 0 1 0 0 PCDHB1 29930 broad.mit.edu 37 5 140431133 140431133 + Silent SNP G A A TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr5:140431133G>A uc003lik.1 + 0 155 c.78G>A c.(76-78)ggG>ggA p.G26G NM_013340 NP_037472 Q9Y5F3 PCDB1_HUMAN Homo sapiens protocadherin beta 1 (PCDHB1), mRNA. 26 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 53 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TATCTGTGGGGGATGCGACAA 0.522000 4 39 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179587638 179587638 + Missense_Mutation SNP C T T TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr2:179587638C>T uc021vsy.1 - 72 18481 c.18256G>A c.(18256-18258)Gaa>Aaa p.E6086K TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.E2747K NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 7013 Ig-like 42. 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) TCCAGAGGTTCCAGTTCCGTA 0.403000 16 14 0 0 1 0 0 AAAS 8086 broad.mit.edu 37 12 53715228 53715228 + Missense_Mutation SNP G A A TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr12:53715228G>A uc001scr.4 - 0 185 c.22C>T c.(22-24)Cct>Tct p.P8S AAAS_uc001scs.4_Missense_Mutation_p.P8S NM_015665 NP_056480 Q9NRG9 AAAS_HUMAN Homo sapiens achalasia, adrenocortical insufficiency, alacrimia (AAAS), transcript variant 1, mRNA. 8 carbohydrate metabolic process|glucose transport|nucleocytoplasmic transport|regulation of glucose transport|regulation of nucleocytoplasmic transport|transmembrane transport|viral reproduction nuclear pore breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2) 20 GGTGGAGGAGGGAACAACCCC 0.632000 OREG0021865 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 179 153 0 0 1 0 0 ALOX15 246 broad.mit.edu 37 17 4536493 4536493 + Missense_Mutation SNP T C C TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr17:4536493T>C uc002fyh.3 - 9 1391 c.1366A>G c.(1366-1368)Aag>Gag p.K456E ALOX15_uc010vsd.2_Missense_Mutation_p.K417E|ALOX15_uc010vse.2_Missense_Mutation_p.K478E NM_001140 NP_001131 P16050 LOX15_HUMAN Homo sapiens arachidonate 15-lipoxygenase (ALOX15), mRNA. 456 Lipoxygenase. inflammatory response|leukotriene biosynthetic process nucleus arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(5) 20 READ - Rectum adenocarcinoma(115;0.0327) Ciclopirox(DB01188)|Masoprocol(DB00179)|Zileuton(DB00744) AAGGAAGACTTCACTCCCAGG 0.612000 37 59 0 0 1 0 0 GPRC6A 222545 broad.mit.edu 37 6 117127855 117127855 + Missense_Mutation SNP G A A TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr6:117127855G>A uc003pxj.1 - 2 1035 c.1013C>T c.(1012-1014)tCc>tTc p.S338F GPRC6A_uc003pxk.1_Intron|GPRC6A_uc003pxl.1_Missense_Mutation_p.S338F NM_148963 NP_683766 Q5T6X5 GPC6A_HUMAN Homo sapiens G protein-coupled receptor, family C, group 6, member A (GPRC6A), mRNA. 338 response to amino acid stimulus G-protein coupled receptor activity autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3) 65 all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234) GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07) TTGAAGAAAGGAATGGAAAGA 0.408000 56 50 0 0 1 0 0 ALB 213 broad.mit.edu 37 4 74281999 74281999 + Silent SNP A G G TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr4:74281999A>G uc003hgs.4 + 9 1291 c.1218A>G c.(1216-1218)gaA>gaG p.E406E ALB_uc011cbe.2_Silent_p.E85E|ALB_uc003hgw.4_Silent_p.E214E|ALB_uc011cbf.2_Silent_p.E296E NM_000477 NP_000468 P02768 ALBU_HUMAN Homo sapiens albumin (ALB), mRNA. 406 Albumin 3. E -> K (in Hiroshima-2). bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport extracellular space|platelet alpha granule lumen|protein complex DNA binding|antioxidant activity|chaperone binding|copper ion binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1) 48 Breast(15;0.00102) Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin iodonated(DB00064)|Serum albumin(DB00096)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137) CTCTTGTGGAAGAGCCTCAGA 0.343000 14 11 0 0 1 0 0 PDE6B 5158 broad.mit.edu 37 4 628567 628567 + Silent SNP C T T TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr4:628567C>T uc003gap.3 + 1 623 c.570C>T c.(568-570)atC>atT p.I190I PDE6B_uc003gao.4_Silent_p.I190I NM_000283 NP_001138764 P35913 PDE6B_HUMAN Homo sapiens phosphodiesterase 6B, cGMP-specific, rod, beta (PDE6B), transcript variant 1, mRNA. 190 GAF 1. GMP metabolic process|cytosolic calcium ion homeostasis|phototransduction, visible light|platelet activation|visual perception cytosol|membrane 3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1) 30 TGGCGGTGATCATGGCAGTGA 0.572000 82 64 0 0 1 0 0 ADAM28 10863 broad.mit.edu 37 8 24170920 24170920 + Missense_Mutation SNP G A A TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr8:24170920G>A uc003xdy.3 + 5 486 c.403G>A c.(403-405)Gat>Aat p.D135N ADAM28_uc003xdx.3_Missense_Mutation_p.D135N|ADAM28_uc011kzz.2_Intron|ADAM28_uc011laa.2_Non-coding_Transcript NM_014265 NP_055080 Q9UKQ2 ADA28_HUMAN Homo sapiens ADAM metallopeptidase domain 28 (ADAM28), transcript variant 1, mRNA. 135 proteolysis|spermatogenesis extracellular region|integral to membrane|plasma membrane metalloendopeptidase activity|zinc ion binding p.G134E(1) 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) CAGTCAGGGGGATCAAAGATA 0.393000 35 30 0 0 1 0 0 OR10AG1 282770 broad.mit.edu 37 11 55735212 55735212 + Missense_Mutation SNP A T T TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr11:55735212A>T uc010rit.2 - 0 728 c.728T>A c.(727-729)tTt>tAt p.F243Y NM_001005491 NP_001005491 Q8NH19 O10AG_HUMAN Homo sapiens olfactory receptor, family 10, subfamily AG, member 1 (OR10AG1), mRNA. 243 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(24)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 40 Esophageal squamous(21;0.0137) ACCTGCTCCAAAGAATAAGAT 0.393000 25 21 0 0 1 0 0 STAT5B 6777 broad.mit.edu 37 17 40379652 40379652 + Silent SNP G A A TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr17:40379652G>A uc002hzh.3 - 2 349 c.180C>T c.(178-180)ctC>ctT p.L60L STAT5B_uc002hzi.3_Silent_p.L60L NM_012448 NP_036580 P51692 STA5B_HUMAN Homo sapiens signal transducer and activator of transcription 5B (STAT5B), mRNA. 60 2-oxoglutarate metabolic process|JAK-STAT cascade involved in growth hormone signaling pathway|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|fatty acid metabolic process|isoleucine metabolic process|oxaloacetate metabolic process|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process cytosol|nucleoplasm calcium ion binding|glucocorticoid receptor binding|sequence-specific DNA binding transcription factor activity breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 all_cancers(22;4.15e-07)|all_epithelial(22;2.83e-05)|Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.135) Dasatinib(DB01254) GGCCCTCCAGGAGCTGGGTGG 0.502000 47 42 0 0 1 0 0 BC139719 0 broad.mit.edu 37 16 90161106 90161106 + Silent SNP G A A TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr16:90161106G>A uc002fqq.3 + 2 336 c.336G>A c.(334-336)agG>agA p.R112R BC139719_uc002fqp.3_Intron Homo sapiens, Similar to tubulin, beta, 2, clone IMAGE:4873024, mRNA. CAAAATCCAGGAACGCTCCAA 0.622000 23 10 0 0 1 0 0 MLL2 8085 broad.mit.edu 37 12 49445855 49445855 + Silent SNP G A A TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr12:49445855G>A uc001rta.4 - 9 1611 c.1611C>T c.(1609-1611)tcC>tcT p.S537S NM_003482 NP_003473 O14686 MLL2_HUMAN Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 2 (MLL2), mRNA. 537 15 X 5 AA repeats of S/P-P-P-E/P-E/A.|Pro-rich. chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent histone methyltransferase complex histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5) 366 CAGGTGGTGGGGATAGAGGCG 0.582000 """N, F, Mis""" """medulloblastoma, renal""" HNSCC(34;0.089) 112 86 0 0 1 0 0 EPHA1 2041 broad.mit.edu 37 7 143098514 143098514 + Missense_Mutation SNP C T T TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr7:143098514C>T uc003wcz.3 - 2 422 c.335G>A c.(334-336)gGa>gAa p.G112E NM_005232 NP_005223 P21709 EPHA1_HUMAN Homo sapiens EPH receptor A1 (EPHA1), mRNA. 112 integral to plasma membrane ATP binding|ephrin receptor activity p.G112V(3) NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3) 51 Melanoma(164;0.205) Myeloproliferative disorder(862;0.0255) AGGCCCGGCTCCCCCAGGGAA 0.617000 174 149 0 0 1 0 0 HYLS1 219844 broad.mit.edu 37 11 125769686 125769686 + Silent SNP G A A TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr11:125769686G>A uc009zbv.3 + 3 957 c.423G>A c.(421-423)caG>caA p.Q141Q HYLS1_uc001qcx.4_Silent_p.Q141Q|PUS3_uc001qcy.2_Intron|HYLS1_uc021qrw.1_Silent_p.Q141Q NM_145014 NP_659451 Q96M11 HYLS1_HUMAN Homo sapiens hydrolethalus syndrome 1 (HYLS1), transcript variant 1, mRNA. 141 centrosome|nucleus breast(1)|endometrium(1)|large_intestine(3)|skin(3)|upper_aerodigestive_tract(1) 9 all_hematologic(175;0.177) Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.131)|all_lung(97;0.139)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0446) TACAGTTCCAGGAAGACAAGG 0.373000 49 49 0 0 1 0 0 DCN 1634 broad.mit.edu 37 12 91546920 91546920 + Silent SNP G A A TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr12:91546920G>A uc001tbt.3 - 5 953 c.699C>T c.(697-699)atC>atT p.I233I DCN_uc001tbo.3_Silent_p.I124I|DCN_uc001tbp.3_Silent_p.I86I|DCN_uc001tbq.3_Intron|DCN_uc001tbr.3_Intron|DCN_uc001tbu.3_Silent_p.I233I NM_133503 NP_598010 P07585 PGS2_HUMAN Homo sapiens decorin (DCN), transcript variant A2, mRNA. 233 organ morphogenesis extracellular space central_nervous_system(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|skin(1) 20 CAACTCTGCTGATTTTGTTGC 0.348000 5 84 0 0 1 0 0 UNC13C 440279 broad.mit.edu 37 15 54707203 54707203 + Missense_Mutation SNP G A A TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr15:54707203G>A uc021smr.1 + 16 4865 c.4865G>A c.(4864-4866)gGa>gAa p.G1622E UNC13C_uc021sms.1_Missense_Mutation_p.G1624E|UNC13C_uc002acl.3_Missense_Mutation_p.G454E NM_001080534 NP_001074003 Q8NB66 UN13C_HUMAN Homo sapiens unc-13 homolog C (C. elegans) (UNC13C), mRNA. 1624 exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding p.N1622N(1)|p.G1624E(1) breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4) 121 GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124) CTGAACATGGGAAAAATAAGT 0.299000 24 18 0 0 1 0 0 SPHKAP 80309 broad.mit.edu 37 2 228881314 228881314 + Missense_Mutation SNP C T T rs2396519 TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr2:228881314C>T uc002vpq.2 - 6 4303 c.4256G>A c.(4255-4257)cGa>cAa p.R1419Q SPHKAP_uc002vpp.2_Missense_Mutation_p.R1419Q|SPHKAP_uc010zlx.1_Missense_Mutation_p.R1419Q NM_001142644 NP_001136116 Q2M3C7 SPKAP_HUMAN Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA. 1419 cytoplasm protein binding NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 185 Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23) Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232) GCAAAGTGATCGCCTTTTGTG 0.458000 7 67 0 0 1 0 0 LONP2 83752 broad.mit.edu 37 16 48296726 48296726 + Missense_Mutation SNP C G G TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr16:48296726C>G uc002efi.1 + 5 1014 c.925C>G c.(925-927)Ctg>Gtg p.L309V MIR548AE2_uc021thr.1_Intron|LONP2_uc010vgm.1_Non-coding_Transcript|LONP2_uc002efj.1_Missense_Mutation_p.L265V NM_031490 NP_113678 Q86WA8 LONP2_HUMAN Homo sapiens lon peptidase 2, peroxisomal (LONP2), mRNA. 309 misfolded or incompletely synthesized protein catabolic process|protein targeting to peroxisome|signal peptide processing nucleoid|peroxisomal matrix ATP binding|ATP-dependent peptidase activity|enzyme binding|sequence-specific DNA binding|serine-type endopeptidase activity breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 31 AGAATATGCTCTGACTAGAAA 0.348000 14 20 0 0 1 0 0 PRAMEF10 343071 broad.mit.edu 37 1 12952767 12952767 + Missense_Mutation SNP C T T TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr1:12952767C>T uc001auo.3 - 3 1478 c.1405G>A c.(1405-1407)Gac>Aac p.D469N NM_001039361 NP_001034450 O60809 PRA10_HUMAN Homo sapiens PRAME family member 10 (PRAMEF10), mRNA. 469 NS(2)|breast(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1) 12 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;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) AGATGGAAGTCCACTTTCTCA 0.493000 41 34 0 0 1 0 0 CCDC170 80129 broad.mit.edu 37 6 151914356 151914356 + Missense_Mutation SNP C T T TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr6:151914356C>T uc003qol.3 + 7 1497 c.1408C>T c.(1408-1410)Cgt>Tgt p.R470C NM_025059 NP_079335 Q8IYT3 CF097_HUMAN Homo sapiens chromosome 6 open reading frame 97 (C6orf97), mRNA. 470 GCAGCTGGTTCGTCTTGAGAG 0.453000 43 32 0 0 1 0 0 BC035867 0 broad.mit.edu 37 22 20993343 20993343 + RNA SNP A G G TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr22:20993343A>G uc002zsv.3 - 1 c.216T>C Homo sapiens, clone IMAGE:5171202, mRNA. ACTGCAGATCAAGCCCAGCTA 0.507000 1 6 0 0 1 0 0 EBF3 253738 broad.mit.edu 37 10 131676055 131676055 + Missense_Mutation SNP G A A TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr10:131676055G>A uc021qav.1 - 6 672 c.571C>T c.(571-573)Cct>Tct p.P191S EBF3_uc001lki.2_Missense_Mutation_p.P205S NM_001005463 NP_001005463 Q9H4W6 COE3_HUMAN Homo sapiens early B-cell factor 3 (EBF3), mRNA. 205 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|metal ion binding|protein binding central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 44 all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764) OV - Ovarian serous cystadenocarcinoma(35;0.00513) ATATCTCGAGGGTTGCCTGCA 0.363000 18 11 0 0 1 0 0 IL12A 3592 broad.mit.edu 37 3 159711579 159711579 + Missense_Mutation SNP G A A TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr3:159711579G>A uc003fcx.3 + 5 775 c.554G>A c.(553-555)aGg>aAg p.R185K AK097161_uc003fcw.1_Intron NM_000882 NP_000873 P29459 IL12A_HUMAN Homo sapiens interleukin 12A (natural killer cell stimulatory factor 1, cytotoxic lymphocyte maturation factor 1, p35) (IL12A), mRNA. 151 cell cycle arrest|cell migration|defense response to Gram-positive bacterium|immune response|negative regulation of interleukin-17 production|negative regulation of smooth muscle cell proliferation|positive regulation of NK T cell activation|positive regulation of T cell mediated cytotoxicity|positive regulation of cell adhesion|positive regulation of interferon-gamma production|positive regulation of natural killer cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|positive regulation of smooth muscle cell apoptosis|positive regulation of tyrosine phosphorylation of Stat4 protein|response to UV-B|response to lipopolysaccharide|response to virus interleukin-12 complex cytokine activity|growth factor activity|interleukin-12 receptor binding|interleukin-27 binding|protein heterodimerization activity endometrium(3)|kidney(1)|large_intestine(1)|lung(4) 9 Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523) GATCCTAAGAGGCAGATCTTT 0.423000 70 67 0 0 1 0 0 CHRNA2 1135 broad.mit.edu 37 8 27321203 27321203 + Missense_Mutation SNP G A A TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr8:27321203G>A uc010lur.3 - 5 1366 c.757C>T c.(757-759)Ccc>Tcc p.P253S CHRNA2_uc011lal.2_Missense_Mutation_p.P238S|CHRNA2_uc010lus.3_Missense_Mutation_p.P55S NM_000742 NP_000733 Q15822 ACHA2_HUMAN Homo sapiens cholinergic receptor, nicotinic, alpha 2 (neuronal) (CHRNA2), mRNA. 253 cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 23 Ovarian(32;2.61e-05) UCEC - Uterine corpus endometrioid carcinoma (27;0.0208)|Epithelial(17;2.77e-10)|Colorectal(74;0.136) Atracurium(DB00732)|Biperiden(DB00810)|Carbachol(DB00411)|Cisatracurium Besylate(DB00565)|Decamethonium(DB01245)|Dextromethorphan(DB00514)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Gallamine Triethiodide(DB00483)|Levallorphan(DB00504)|Mecamylamine(DB00657)|Metocurine Iodide(DB00416)|Metocurine(DB01336)|Mivacurium(DB01226)|Nicotine(DB00184)|Pancuronium(DB01337)|Pipecuronium(DB01338)|Rocuronium(DB00728)|Tubocurarine(DB01199) GTGACGTCGGGGTAGATCTCG 0.602000 90 69 0 0 1 0 0 DDX42 11325 broad.mit.edu 37 17 61864432 61864432 + Missense_Mutation SNP C T T TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr17:61864432C>T uc002jbu.3 + 2 280 c.23C>T c.(22-24)cCt>cTt p.P8L DDX42_uc002jbv.3_Missense_Mutation_p.P8L NM_007372 NP_987095 Q86XP3 DDX42_HUMAN Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 42 (DDX42), transcript variant 1, mRNA. 8 protein localization|regulation of anti-apoptosis Cajal body|cytoplasm|nuclear speck ATP binding|ATP-dependent helicase activity|RNA binding|protein binding NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3) 46 AAAGGTGGTCCTGGCACTAAG 0.463000 125 111 0 0 1 0 0 PCGF3 10336 broad.mit.edu 37 4 755194 755195 + Missense_Mutation DNP CC TT TT TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr4:755194_755195CC>TT uc011bva.1 + 9 1065_1066 c.590_591CC>TT c.(589-591)tcc>tTT p.S197F PCGF3_uc003gbd.1_Non-coding_Transcript|PCGF3_uc003gbe.3_Missense_Mutation_p.S197F|PCGF3_uc010ibh.3_Missense_Mutation_p.S197F|PCGF3_uc003gbh.3_Missense_Mutation_p.S163F NM_006315 NP_006306 Q3KNV8 PCGF3_HUMAN Homo sapiens polycomb group ring finger 3 (PCGF3), mRNA. 197 regulation of transcription, DNA-dependent|transcription, DNA-dependent PcG protein complex zinc ion binding endometrium(3)|kidney(1)|large_intestine(2)|lung(1) 7 AACCTTTCATCCTTTAACGAGG 0.441000 73 49 0 0 1 0 0 TRAPPC11 60684 broad.mit.edu 37 4 184595963 184595963 + Nonsense_Mutation SNP C T T TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr4:184595963C>T uc003ivx.3 + 5 860 c.658C>T c.(658-660)Cag>Tag p.Q220* TRAPPC11_uc003ivw.3_Nonsense_Mutation_p.Q220*|TRAPPC11_uc010isc.3_Intron NM_021942 NP_068761 Q7Z392 CD041_HUMAN Homo sapiens trafficking protein particle complex 11 (TRAPPC11), transcript variant 1, mRNA. 220 AACAACACACCAGGTGCGTGA 0.303000 15 21 0 0 1 0 0 CEACAM8 1088 broad.mit.edu 37 19 43093796 43093796 + Silent SNP C T T TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr19:43093796C>T uc002oud.2 - 2 618 c.516G>A c.(514-516)caG>caA p.Q172Q AK311181_uc010eif.1_Intron|AK310497_uc010eig.1_Intron|AK310497_uc010eih.1_Intron NM_001816 NP_001807 P31997 CEAM8_HUMAN Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 8 (CEACAM8), mRNA. 172 Ig-like C2-type 1. immune response anchored to membrane|extracellular space|integral to plasma membrane endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(1) 16 Prostate(69;0.00899) AGGTTGTGTTCTGAGTCTCAG 0.567000 192 184 0 0 1 0 0 SMG7 9887 broad.mit.edu 37 1 183521048 183521048 + Silent SNP C T T TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr1:183521048C>T uc001gqg.3 + 21 3646 c.3396C>T c.(3394-3396)acC>acT p.T1132T SMG7_uc001gqf.3_Intron|SMG7_uc001gqh.3_Silent_p.T1086T|SMG7_uc010poc.2_Silent_p.T1140T NM_173156 NP_775179 Q92540 SMG7_HUMAN Homo sapiens smg-7 homolog, nonsense mediated mRNA decay factor (C. elegans) (SMG7), transcript variant 1, mRNA. 1132 mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation cytoplasm|intermediate filament cytoskeleton|nucleus protein phosphatase 2A binding breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 46 GACAAGGCACCATGAACCCTC 0.542000 62 31 0 0 1 0 0 BTAF1 9044 broad.mit.edu 37 10 93742421 93742421 + Missense_Mutation SNP C T T TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr10:93742421C>T uc001khr.3 + 17 2224 c.2126C>T c.(2125-2127)tCc>tTc p.S709F BTAF1_uc001khs.1_Missense_Mutation_p.S379F|BTAF1_uc001kht.1_Missense_Mutation_p.S147F NM_003972 NP_003963 O14981 BTAF1_HUMAN Homo sapiens BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa (Mot1 homolog, S. cerevisiae) (BTAF1), mRNA. 709 negative regulation of transcription, DNA-dependent nucleus ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6) 59 Colorectal(252;0.0846) CCAGCTGAATCCCTGGGCCAG 0.408000 25 29 0 0 1 0 0 MYT1L 23040 broad.mit.edu 37 2 1805525 1805525 + Silent SNP C T T TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr2:1805525C>T uc002qxe.3 - 22 4046 c.3219G>A c.(3217-3219)aaG>aaA p.K1073K MYT1L_uc002qxd.3_Silent_p.K1071K|MYT1L_uc010ewk.3_Silent_p.K69K NM_015025 NP_055840 Q9UL68 MYT1L_HUMAN Homo sapiens myelin transcription factor 1-like (MYT1L), mRNA. 1073 cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 97 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.037)|all_epithelial(98;0.241) OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244) CATTTAGCTCCTTGATTTCTT 0.323000 57 46 0 0 1 0 0 ZNF440 126070 broad.mit.edu 37 19 11943126 11943126 + Missense_Mutation SNP C T T TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr19:11943126C>T uc002msp.1 + 3 1291 c.1135C>T c.(1135-1137)Cat>Tat p.H379Y ZNF440_uc021upk.1_5'Flank NM_152357 NP_689570 Q8IYI8 ZN440_HUMAN Homo sapiens zinc finger protein 440 (ZNF440), mRNA. 379 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(9)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 27 AGCCTTCCCTCATTCCAGTTC 0.418000 35 33 0 0 1 0 0 CYP26C1 340665 broad.mit.edu 37 10 94828205 94828205 + Silent SNP C T T TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr10:94828205C>T uc010qns.2 + 5 1320 c.1320C>T c.(1318-1320)tcC>tcT p.S440S CYP26C1_uc009xud.3_Non-coding_Transcript NM_183374 NP_899230 Q6V0L0 CP26C_HUMAN Homo sapiens cytochrome P450, family 26, subfamily C, polypeptide 1 (CYP26C1), mRNA. 440 anterior/posterior pattern formation|central nervous system development|negative regulation of retinoic acid receptor signaling pathway|neural crest cell development|organelle fusion|retinoic acid catabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity|retinoic acid binding central_nervous_system(1)|lung(3)|ovary(1) 5 Colorectal(252;0.122) GCGAAGATTCCCGGGGCGCCT 0.682000 41 35 0 0 1 0 0 ZCCHC11 23318 broad.mit.edu 37 1 52903962 52903962 + Missense_Mutation SNP G A A TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr1:52903962G>A uc001cty.2 - 24 4121 c.3868C>T c.(3868-3870)Ccc>Tcc p.P1290S ZCCHC11_uc001ctx.2_Missense_Mutation_p.P1290S|ZCCHC11_uc009vze.1_Missense_Mutation_p.P1290S NM_001009881 NP_001009881 Q5TAX3 TUT4_HUMAN Homo sapiens zinc finger, CCHC domain containing 11 (ZCCHC11), transcript variant 1, mRNA. 1290 RNA 3'-end processing|miRNA catabolic process|pre-miRNA processing|stem cell maintenance cytoplasm|nucleolus RNA uridylyltransferase activity|nucleic acid binding|protein binding|zinc ion binding NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 58 CTATCATTGGGAGCCAGTTCT 0.373000 81 54 0 0 1 0 0 CD180 4064 broad.mit.edu 37 5 66480205 66480205 + Missense_Mutation SNP G A A TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr5:66480205G>A uc003juy.2 - 2 614 c.466C>T c.(466-468)Ctt>Ttt p.L156F NM_005582 NP_005573 Q99467 CD180_HUMAN Homo sapiens CD180 molecule (CD180), mRNA. 156 inflammatory response|innate immune response integral to membrane|plasma membrane receptor activity cervix(1)|endometrium(2)|kidney(7)|large_intestine(12)|liver(1)|lung(8)|ovary(1)|stomach(2) 34 Lung NSC(167;4.94e-05)|Prostate(74;0.00601)|Ovarian(174;0.0654)|Breast(144;0.198)|Colorectal(97;0.234) Lung(70;0.0046) TTGCTTCCAAGATACAAGCTT 0.408000 77 63 0 0 1 0 0 TNP2 7142 broad.mit.edu 37 16 11363088 11363088 + Missense_Mutation SNP G A A TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr16:11363088G>A uc002das.3 - 0 73 c.32C>T c.(31-33)aCc>aTc p.T11I RMI2_uc002daq.1_Intron NM_005425 NP_005416 Q05952 STP2_HUMAN Homo sapiens transition protein 2 (during histone to protamine replacement) (TNP2), mRNA. 11 cell differentiation|multicellular organismal development|spermatogenesis nucleosome|nucleus DNA binding p.0?(1) large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 6 CTGAGTGTGGGTGATAGGAAG 0.602000 83 75 0 0 1 0 0 ANK1 286 broad.mit.edu 37 8 41572529 41572529 + Silent SNP G A A TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr8:41572529G>A uc003xok.3 - 14 1750 c.1666C>T c.(1666-1668)Ctg>Ttg p.L556L NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoi.3_Silent_p.L556L|ANK1_uc003xoj.3_Silent_p.L556L|ANK1_uc003xol.3_Silent_p.L556L|ANK1_uc003xom.3_Silent_p.L589L NM_020476 NP_065209 P16157 ANK1_HUMAN Homo sapiens ankyrin 1, erythrocytic (ANK1), transcript variant 1, mRNA. 556 89 kDa domain. axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton p.L556Q(1) breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 122 Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211) all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188) OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264) TCCCGCTCCAGCAGCAGCTCT 0.607000 84 53 0 0 1 0 0 TLR4 7099 broad.mit.edu 37 9 120470904 120470904 + Missense_Mutation SNP C T T TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr9:120470904C>T uc004bjz.3 + 1 448 c.157C>T c.(157-159)Ccc>Tcc p.P53S TLR4_uc004bkb.3_Intron|TLR4_uc004bka.3_Missense_Mutation_p.P13S NM_138554 NP_612564 O00206 TLR4_HUMAN Homo sapiens toll-like receptor 4 (TLR4), transcript variant 1, mRNA. 53 I-kappaB phosphorylation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|T-helper 1 type immune response|Toll signaling pathway|activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|innate immune response|intestinal epithelial structure maintenance|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm lipopolysaccharide receptor activity|transmembrane receptor activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1) 103 CGACAACCTCCCCTTCTCAAC 0.433000 11 58 0 0 1 0 0 TNS3 64759 broad.mit.edu 37 7 47342834 47342834 + Silent SNP C G G TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr7:47342834C>G uc003tnw.3 - 21 3529 c.3171G>C c.(3169-3171)gcG>gcC p.A1057A TNS3_uc022acn.1_Silent_p.A614A NM_022748 NP_073585 Q68CZ2 TENS3_HUMAN Homo sapiens tensin 3 (TNS3), mRNA. 1057 focal adhesion protein binding NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 64 CAGCCCCTGTCGCTGTCAGCG 0.667000 30 28 0 0 1 0 0 KPNA4 3840 broad.mit.edu 37 3 160249302 160249302 + Missense_Mutation SNP T A A TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr3:160249302T>A uc003fdn.3 - 5 637 c.331A>T c.(331-333)Ata>Tta p.I111L NM_002268 NP_002259 O00629 IMA4_HUMAN Homo sapiens karyopherin alpha 4 (importin alpha 3) (KPNA4), mRNA. 111 NLS-bearing substrate import into nucleus cytoplasm|nuclear pore protein binding breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2) 22 Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216) CCAGATTTTATTAAGTCATCA 0.279000 47 52 0 0 1 0 0 ACTC1 70 broad.mit.edu 37 15 35083365 35083365 + Missense_Mutation SNP G A A TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr15:35083365G>A uc001ziu.1 - 5 1183 c.940C>T c.(940-942)Cgt>Tgt p.R314C AK092087_uc001zit.1_Intron NM_005159 NP_005150 P68032 ACTC_HUMAN Homo sapiens actin, alpha, cardiac muscle 1 (ACTC1), mRNA. 314 R -> H (in CMD1R). apoptosis|cardiac muscle tissue morphogenesis|cardiac myofibril assembly|muscle filament sliding|skeletal muscle thin filament assembly I band|actomyosin, actin part|cytosol ATP binding|ATPase activity|myosin binding central_nervous_system(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(3) 31 all_lung(180;2.3e-08) all cancers(64;5.83e-19)|GBM - Glioblastoma multiforme(113;1.98e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0244) TTCTGCATACGATCAGCAATA 0.438000 160 147 0 0 1 0 0 MCTP1 79772 broad.mit.edu 37 5 94224666 94224666 + Silent SNP C T T TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr5:94224666C>T uc003kkx.2 - 11 1851 c.1851G>A c.(1849-1851)agG>agA p.R617R MCTP1_uc003kkv.2_Silent_p.R396R|MCTP1_uc003kkw.2_Silent_p.R350R|MCTP1_uc003kkz.2_Silent_p.R278R|MCTP1_uc003kku.2_Silent_p.R133R NM_024717 NP_078993 Q6DN14 MCTP1_HUMAN Homo sapiens multiple C2 domains, transmembrane 1 (MCTP1), transcript variant L, mRNA. 617 C2 3. calcium-mediated signaling integral to membrane|membrane fraction calcium ion binding p.R617S(4) breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1) 41 all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207) all cancers(79;9.1e-17) TGTGAAATATCCTCAATGGGC 0.423000 41 45 0 0 1 0 0 TOR4A 54863 broad.mit.edu 37 9 140174297 140174297 + Missense_Mutation SNP C T T TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr9:140174297C>T uc022bqh.1 + 0 1156 c.1156C>T c.(1156-1158)Cct>Tct p.P386S TOR4A_uc004cmn.3_Missense_Mutation_p.P386S NM_017723 NP_060193 Q9NXH8 CI167_HUMAN Homo sapiens chromosome 9 open reading frame 167 (C9orf167), mRNA. 386 chaperone mediated protein folding requiring cofactor integral to membrane ATP binding|nucleoside-triphosphatase activity GGGCTTCTTTCCTGACCAGGC 0.682000 0 4 0 0 1 0 0 DNAH3 55567 broad.mit.edu 37 16 20975860 20975860 + Missense_Mutation SNP C T T TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr16:20975860C>T uc010vbe.2 - 52 9346 c.9346G>A c.(9346-9348)Gaa>Aaa p.E3116K DNAH3_uc010vbd.2_Missense_Mutation_p.E551K NM_017539 NP_060009 Q8TD57 DYH3_HUMAN Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA. 3116 AAA 5 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6) 202 GBM - Glioblastoma multiforme(48;0.207) AGCGCGTTTTCCAGCATCCTC 0.458000 105 96 0 0 1 0 0 XIRP2 129446 broad.mit.edu 37 2 168105217 168105217 + Missense_Mutation SNP G A A TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr2:168105217G>A uc002udx.3 + 8 7404 c.7315G>A c.(7315-7317)Gat>Aat p.D2439N XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Missense_Mutation_p.D2264N|XIRP2_uc010fpq.3_Missense_Mutation_p.D2217N|XIRP2_uc010fpr.3_Intron NM_152381 NP_689594 A4UGR9 XIRP2_HUMAN Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA. 2264 actin cytoskeleton organization cell junction actin binding p.D2439N(2) NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 TAATAAGAACGATTTTTCCCC 0.408000 69 63 0 0 1 0 0 FASN 2194 broad.mit.edu 37 17 80047256 80047257 + Missense_Mutation DNP GG AA AA TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr17:80047256_80047257GG>AA uc002kdu.3 - 12 2086_2087 c.1969_1970CC>TT c.(1969-1971)ccg>TTg p.P657L FASN_uc002kdw.1_5'Flank NM_004104 NP_004095 P49327 FAS_HUMAN Homo sapiens fatty acid synthase (FASN), mRNA. 657 Acyl and malonyl transferases (By similarity). energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process Golgi apparatus|cytosol|melanosome|plasma membrane 3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1) 34 all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246) OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237) Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339) CTCAAACACCGGGGCCTGGACA 0.629000 69 56 0 0 1 0 0 PKN1 5585 broad.mit.edu 37 19 14581614 14581614 + Missense_Mutation SNP G A A TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr19:14581614G>A uc002myp.3 + 20 2744 c.2576G>A c.(2575-2577)gGa>gAa p.G859E PKN1_uc002myq.3_Missense_Mutation_p.G865E NM_002741 NP_002732 Q16512 PKN1_HUMAN Homo sapiens protein kinase N1 (PKN1), transcript variant 2, mRNA. 859 Protein kinase. activation of JUN kinase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent endosome|nucleus|plasma membrane ATP binding|GTP-Rho binding|Rac GTPase binding|androgen receptor binding|chromatin binding|histone binding|histone deacetylase binding|histone kinase activity (H3-T11 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding p.L858L(1) breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(2)|upper_aerodigestive_tract(1) 31 CGGAGGCTGGGATCTAGCGAG 0.637000 104 89 0 0 1 0 0 MGC70870 403340 broad.mit.edu 37 GL000205.1 117300 117300 + RNA SNP G A A TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chrGL000205.1:117300G>A uc002kgk.4 + 0 c.678G>A Homo sapiens C-terminal binding protein 2 pseudogene (MGC70870), non-coding RNA. CTGCTGGATGGACGGGACTGC 0.552000 98 9 0 0 1 0 0 COL6A5 256076 broad.mit.edu 37 3 130159541 130159541 + Missense_Mutation SNP G A A rs146634521 by1000genomes TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr3:130159541G>A uc010htj.1 + 34 6853 c.6359G>A c.(6358-6360)cGt>cAt p.R2120H COL6A5_uc010hti.1_Non-coding_Transcript|COL6A5_uc021xdz.1_Missense_Mutation_p.R159H|COL6A5_uc010htk.1_Missense_Mutation_p.R159H NM_153264 NP_694996 A8TX70 CO6A5_HUMAN Homo sapiens collagen, type VI, alpha 5 (COL6A5), mRNA. 2120 Nonhelical region.|VWFA 9. axon guidance|cell adhesion collagen endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1) 44 GGCTCTACACGTAAGGATGAC 0.408000 30 25 0 0 1 0 0 FAM172A 83989 broad.mit.edu 37 5 93217390 93217390 + Missense_Mutation SNP C T T TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr5:93217390C>T uc010jbd.3 - 6 779 c.572G>A c.(571-573)gGa>gAa p.G191E FAM172A_uc011cuf.2_Missense_Mutation_p.G145E|FAM172A_uc011cug.2_Missense_Mutation_p.G81E|FAM172A_uc011cuh.2_Missense_Mutation_p.G44E|FAM172A_uc011cui.2_Non-coding_Transcript|FAM172A_uc011cuj.2_Intron|FAM172A_uc003kkm.4_Missense_Mutation_p.G191E NM_032042 NP_001156889 Q8WUF8 F172A_HUMAN Homo sapiens family with sequence similarity 172, member A (FAM172A), transcript variant 1, mRNA. 191 endoplasmic reticulum|extracellular region endometrium(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1) 9 TACTCCATATCCTTCCTGTTT 0.294000 16 10 0 0 1 0 0 LAMA4 3910 broad.mit.edu 37 6 112443370 112443370 + Missense_Mutation SNP G A A TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr6:112443370G>A uc003pvu.2 - 31 4631 c.4322C>T c.(4321-4323)cCt>cTt p.P1441L LAMA4_uc003pvv.2_Missense_Mutation_p.P1434L|LAMA4_uc003pvt.2_Missense_Mutation_p.P1434L NM_001105206 NP_001098676 Q16363 LAMA4_HUMAN Homo sapiens laminin, alpha 4 (LAMA4), transcript variant 1, mRNA. 1441 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) CAGAGCAACAGGATCCCATGA 0.418000 42 27 0 0 1 0 0 HHIP 64399 broad.mit.edu 37 4 145655996 145655996 + Nonsense_Mutation SNP A T T TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr4:145655996A>T uc003ijs.2 + 11 2544 c.1864A>T c.(1864-1866)Aag>Tag p.K622* NM_022475 NP_071920 Q96QV1 HHIP_HUMAN Homo sapiens hedgehog interacting protein (HHIP), mRNA. 622 EGF-like 1. cytoplasm|extracellular region catalytic activity|protein binding|zinc ion binding central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 33 all_hematologic(180;0.151) GBM - Glioblastoma multiforme(119;0.0185) CCCCACGGGAAAGTGCTGCTG 0.532000 59 47 0 0 1 0 0 SP140 11262 broad.mit.edu 37 2 231118084 231118084 + Missense_Mutation SNP G A A TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr2:231118084G>A uc002vql.3 + 10 1226 c.1111G>A c.(1111-1113)Gaa>Aaa p.E371K SP140_uc010zma.1_Non-coding_Transcript|SP140_uc002vqk.2_Intron|SP140_uc002vqn.3_Intron|SP140_uc002vqm.3_Intron|SP140_uc010fxl.3_Missense_Mutation_p.E371K NM_007237 NP_009168 Q13342 LY10_HUMAN Homo sapiens SP140 nuclear body protein (SP140), transcript variant 1, mRNA. 371 defense response cytoplasm|nuclear envelope|nucleolus|nucleoplasm DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1) 12 Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167) Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942) AGTCACTAATGAAGGAGAACC 0.418000 5 47 0 0 1 0 0 OR5I1 10798 broad.mit.edu 37 11 55703825 55703825 + Missense_Mutation SNP C T T TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr11:55703825C>T uc010ris.2 - 0 52 c.52G>A c.(52-54)Ggt>Agt p.G18S NM_006637 NP_006628 Q13606 OR5I1_HUMAN Homo sapiens olfactory receptor, family 5, subfamily I, member 1 (OR5I1), mRNA. 18 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(34)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 52 GTTGGAAAACCTAATAGAATA 0.368000 23 22 0 0 1 0 0 CREB3L2 64764 broad.mit.edu 37 7 137612928 137612928 + Missense_Mutation SNP G A A TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr7:137612928G>A uc003vtw.3 - 1 683 c.287C>T c.(286-288)aCc>aTc p.T96I CREB3L2_uc003vtx.2_Missense_Mutation_p.T96I|CREB3L2_uc003vty.4_Missense_Mutation_p.T96I|CREB3L2_uc003vtv.3_Missense_Mutation_p.T33I NM_194071 NP_919047 Q70SY1 CR3L2_HUMAN Homo sapiens cAMP responsive element binding protein 3-like 2 (CREB3L2), transcript variant 1, mRNA. 96 chondrocyte differentiation|positive regulation of transcription, DNA-dependent|response to endoplasmic reticulum stress|response to unfolded protein endoplasmic reticulum membrane|integral to membrane|nucleus cAMP response element binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity FUS/CREB3L2(158) breast(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 19 GGTAATGTGGGTGAAGGGCGA 0.597000 T FUS fibromyxoid sarcoma 6 7 0 0 1 0 0 GRIK4 2900 broad.mit.edu 37 11 120745942 120745942 + Missense_Mutation SNP G A A TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr11:120745942G>A uc001pxn.2 + 10 1441 c.1154G>A c.(1153-1155)gGt>gAt p.G385D GRIK4_uc009zav.1_Missense_Mutation_p.G385D|GRIK4_uc009zaw.1_Missense_Mutation_p.G385D|GRIK4_uc009zax.1_Missense_Mutation_p.G385D NM_014619 NP_055434 Q16099 GRIK4_HUMAN Homo sapiens glutamate receptor, ionotropic, kainate 4 (GRIK4), mRNA. 385 glutamate signaling pathway|synaptic transmission cell junction|postsynaptic membrane extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1) 69 Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21) BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116) L-Glutamic Acid(DB00142) ACAAGGAATGGTTTTCGGCAG 0.502000 36 26 0 0 1 0 0 NRAP 4892 broad.mit.edu 37 10 115411616 115411616 + Silent SNP C T T TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr10:115411616C>T uc001lal.3 - 6 785 c.621G>A c.(619-621)gtG>gtA p.V207V NRAP_uc001laj.3_Silent_p.V207V|NRAP_uc001lak.3_Silent_p.V207V NM_198060 NP_932326 Q86VF7 NRAP_HUMAN Homo sapiens nebulin-related anchoring protein (NRAP), transcript variant 2, mRNA. 207 fascia adherens|muscle tendon junction actin binding|muscle alpha-actinin binding|zinc ion binding autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 95 Colorectal(252;0.0233)|Breast(234;0.188) Epithelial(162;0.00392)|all cancers(201;0.00569) GAGTATCCACCACCGTGGAGA 0.542000 62 31 0 0 1 0 0 CAMK4 814 broad.mit.edu 37 5 110784843 110784843 + Silent SNP T C C TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr5:110784843T>C uc003kpf.3 + 6 802 c.567T>C c.(565-567)tcT>tcC p.S189S CAMK4_uc010jbv.3_5'UTR NM_001744 NP_001735 Q16566 KCC4_HUMAN Homo sapiens calcium/calmodulin-dependent protein kinase IV (CAMK4), mRNA. 189 Protein kinase. activation of phospholipase C activity|nerve growth factor receptor signaling pathway|synaptic transmission cytosol|nucleoplasm ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1) 30 all_cancers(142;1.49e-05)|all_epithelial(76;1.82e-07)|Prostate(80;0.00964)|all_lung(232;0.0181)|Lung NSC(167;0.0298)|Ovarian(225;0.0446)|Colorectal(57;0.0478)|Breast(839;0.244) OV - Ovarian serous cystadenocarcinoma(64;3.79e-08)|Epithelial(69;5.29e-08)|all cancers(49;1.1e-05)|COAD - Colon adenocarcinoma(37;0.109) TTGGACTCTCTAAAATTGTGG 0.303000 22 17 0 0 1 0 0 ARID4B 51742 broad.mit.edu 37 1 235338498 235338498 + Splice_Site SNP C A A TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr1:235338498C>A uc021pks.1 - 22 4041 c.3664_splice c.e22+1 p.S1222_splice ARID4B_uc001hwq.3_Splice_Site_p.S1222_splice|ARID4B_uc001hwr.3_Splice_Site_p.S1136_splice|RBM34_uc001hwp.3_Splice_Site NM_001206794 NP_001193723 Q4LE39 ARI4B_HUMAN Homo sapiens AT rich interactive domain 4B (RBP1-like) (ARID4B), transcript variant 3, mRNA. 1222 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|protein binding NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2) 8 Ovarian(103;0.0473)|Breast(184;0.23) all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24) OV - Ovarian serous cystadenocarcinoma(106;2.86e-05) ATGTCACTTACACATCTGAAA 0.363000 45 36 1.836e-18 1.85278e-18 1 1 0 NPHS1 4868 broad.mit.edu 37 19 36322274 36322274 + Splice_Site SNP C T T TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr19:36322274C>T uc002oby.3 - 26 3468 c.3312_splice c.e26-1 p.G1104_splice NPHS1_uc010eem.1_Splice_Site NM_004646 NP_004637 O60500 NPHN_HUMAN Homo sapiens nephrosis 1, congenital, Finnish type (nephrin) (NPHS1), mRNA. 1104 cell adhesion|excretion|muscle organ development integral to plasma membrane NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 74 all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) CTCTTCCGACCTTCCAGGATG 0.587000 162 140 0 0 1 0 0 MARCO 8685 broad.mit.edu 37 2 119735491 119735491 + Missense_Mutation SNP A T T TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr2:119735491A>T uc002tln.1 + 7 878 c.746A>T c.(745-747)aAa>aTa p.K249I MARCO_uc010yyf.1_Missense_Mutation_p.K171I NM_006770 NP_006761 Q9UEW3 MARCO_HUMAN Homo sapiens macrophage receptor with collagenous structure (MARCO), mRNA. 249 Collagen-like. cell surface receptor linked signaling pathway|innate immune response collagen|integral to plasma membrane pattern recognition receptor activity|scavenger receptor activity p.E248V(1) 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 AAGGGAGAGAAAGGAGACCTG 0.592000 22 12 0 0 1 0 0 KCNK1 3775 broad.mit.edu 37 1 233750043 233750043 + Silent SNP C T T TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr1:233750043C>T uc010pxo.1 + 0 294 c.126C>T c.(124-126)tcC>tcT p.S42S NM_002245 NP_002236 O00180 KCNK1_HUMAN Homo sapiens potassium channel, subfamily K, member 1 (KCNK1), mRNA. 42 voltage-gated potassium channel complex inward rectifier potassium channel activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1) 11 all_cancers(173;0.00217)|all_epithelial(177;0.121)|Prostate(94;0.122)|Acute lymphoblastic leukemia(190;0.175) Ibutilide(DB00308)|Quinidine(DB00908) TGGTCTTCTCCTCGGTGGAGC 0.657000 21 9 0 0 1 0 0 MAGEB6 158809 broad.mit.edu 37 X 26212915 26212915 + Missense_Mutation SNP G A A TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chrX:26212915G>A uc022buc.1 + 0 952 c.952G>A c.(952-954)Gat>Aat p.D318N MAGEB6_uc004dbr.3_Missense_Mutation_p.D318N NM_173523 NP_775794 Q8N7X4 MAGB6_HUMAN Homo sapiens melanoma antigen family B, 6 (MAGEB6), mRNA. 318 MAGE. breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2) 33 GGGGATATATGATGGGATCCT 0.502000 10 171 0 0 1 0 0 SI 6476 broad.mit.edu 37 3 164741375 164741375 + Missense_Mutation SNP C T T TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr3:164741375C>T uc003fei.3 - 25 3145 c.3082G>A c.(3082-3084)Gat>Aat p.D1028N NM_001041 NP_001032 P14410 SUIS_HUMAN Homo sapiens sucrase-isomaltase (alpha-glucosidase) (SI), mRNA. 1028 Sucrase. carbohydrate metabolic process|polysaccharide digestion Golgi apparatus|apical plasma membrane|brush border|integral to membrane carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1) 218 Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199) Acarbose(DB00284) TGCAACATATCATTTTTGTGA 0.353000 HNSCC(35;0.089) 25 24 0 0 1 0 0 E2F8 79733 broad.mit.edu 37 11 19252297 19252297 + Missense_Mutation SNP G A A TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr11:19252297G>A uc001mpm.3 - 7 1673 c.1151C>T c.(1150-1152)tCc>tTc p.S384F E2F8_uc009yhv.3_Intron|E2F8_uc001mpn.4_Missense_Mutation_p.S384F NM_024680 NP_078956 A0AVK6 E2F8_HUMAN Homo sapiens E2F transcription factor 8 (E2F8), transcript variant 1, mRNA. 384 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 CCCACGTGTGGAAAAGAGGTT 0.433000 35 36 0 0 1 0 0 FBN2 2201 broad.mit.edu 37 5 127702115 127702115 + Missense_Mutation SNP G A A TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr5:127702115G>A uc003kuu.3 - 16 2696 c.2257C>T c.(2257-2259)Cac>Tac p.H753Y FBN2_uc003kuv.2_Missense_Mutation_p.H720Y NM_001999 NP_001990 P35556 FBN2_HUMAN Homo sapiens fibrillin 2 (FBN2), mRNA. 753 TB 3. bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation microfibril calcium ion binding|extracellular matrix structural constituent NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 197 all_cancers(142;0.0216)|Prostate(80;0.0551) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146) CAAAGGCCGTGGAATTCAGCT 0.333000 0 8 0 0 1 0 0 YSK4 80122 broad.mit.edu 37 2 135744965 135744965 + Missense_Mutation SNP C T T TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr2:135744965C>T uc002tue.1 - 6 1508 c.1477G>A c.(1477-1479)Gga>Aga p.G493R YSK4_uc002tuf.1_Intron|YSK4_uc010fnc.1_Intron|YSK4_uc010fnd.1_Missense_Mutation_p.G380R|YSK4_uc010zbg.1_Intron|YSK4_uc002tuh.4_Missense_Mutation_p.G221R|YSK4_uc002tui.4_Missense_Mutation_p.G510R NM_025052 NP_079328 Q56UN5 YSK4_HUMAN Homo sapiens YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae) (YSK4), transcript variant 1, mRNA. 493 ATP binding|protein serine/threonine kinase activity breast(1)|endometrium(2)|large_intestine(9)|lung(8)|ovary(2)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 BRCA - Breast invasive adenocarcinoma(221;0.112) TTGGGGCTTCCATCCACAGGG 0.433000 32 37 0 0 1 0 0 MLL3 58508 broad.mit.edu 37 7 151845931 151845931 + Missense_Mutation SNP T A A TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr7:151845931T>A uc003wla.3 - 51 13300 c.13081A>T c.(13081-13083)Agc>Tgc p.S4361C MLL3_uc003wkz.3_Missense_Mutation_p.S3479C|MLL3_uc003wkx.3_Missense_Mutation_p.S519C|MLL3_uc003wky.3_Missense_Mutation_p.S1925C NM_170606 NP_733751 Q8NEZ4 MLL3_HUMAN Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA. 4361 intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent DNA binding|protein binding|zinc ion binding p.W4360*(1) 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) ATATGAATGCTCCACTTCTTC 0.428000 N medulloblastoma 40 34 0 0 1 0 0 ZNF124 7678 broad.mit.edu 37 1 247320566 247320566 + Missense_Mutation SNP C T T TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr1:247320566C>T uc001ick.3 - 3 497 c.358G>A c.(358-360)Gga>Aga p.G120R ZNF124_uc001ici.3_Intron|ZNF124_uc001icj.1_Intron NM_003431 NP_003422 Q15973 ZN124_HUMAN Homo sapiens zinc finger protein 124 (ZNF124), transcript variant 1, mRNA. 120 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding biliary_tract(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(3)|urinary_tract(2) 14 all_cancers(71;5.07e-05)|all_epithelial(71;8.72e-06)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0488)|Lung NSC(105;0.053) OV - Ovarian serous cystadenocarcinoma(106;0.00739) CCATAATGTCCATTTCCAGTG 0.378000 19 11 0 0 1 0 0 TLR3 7098 broad.mit.edu 37 4 187004356 187004356 + Missense_Mutation SNP C T T TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr4:187004356C>T uc003iyq.3 + 3 1617 c.1516C>T c.(1516-1518)Cgt>Tgt p.R506C TLR3_uc011ckz.2_Missense_Mutation_p.R229C|TLR3_uc003iyr.3_Missense_Mutation_p.R229C NM_003265 NP_003256 O15455 TLR3_HUMAN Homo sapiens toll-like receptor 3 (TLR3), mRNA. 506 I-kappaB phosphorylation|MyD88-independent toll-like receptor signaling pathway|activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|defense response to bacterium|defense response to virus|detection of virus|hyperosmotic response|inflammatory response|innate immune response|negative regulation of osteoclast differentiation|positive regulation of NF-kappaB import into nucleus|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|toll-like receptor 3 signaling pathway endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane double-stranded RNA binding|transmembrane receptor activity breast(1)|endometrium(5)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 29 all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243) OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16) CCAGCCTCTTCGTAACTTGAC 0.453000 84 49 0 0 1 0 0 TMEM215 401498 broad.mit.edu 37 9 32784518 32784518 + Missense_Mutation SNP A G G TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr9:32784518A>G uc022bfh.1 + 0 337 c.337A>G c.(337-339)Aag>Gag p.K113E TMEM215_uc003zri.4_Missense_Mutation_p.K113E NM_212558 NP_997723 Q68D42 TM215_HUMAN Homo sapiens transmembrane protein 215 (TMEM215), mRNA. 113 integral to membrane p.A112T(1) endometrium(4)|kidney(1)|large_intestine(3)|lung(2)|prostate(2) 12 TGAGCTGGCTAAGAAGGCGGG 0.607000 1 49 0 0 1 0 0 CEACAM20 125931 broad.mit.edu 37 19 45016928 45016928 + Missense_Mutation SNP G A A TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr19:45016928G>A uc010ejn.1 - 8 1527 c.1511C>T c.(1510-1512)tCc>tTc p.S504F CEACAM20_uc010ejo.1_Missense_Mutation_p.S504F|CEACAM20_uc010ejp.1_Missense_Mutation_p.S411F|CEACAM20_uc010ejq.1_Missense_Mutation_p.S411F NM_001102597 NP_001096067 Q6UY09 CEA20_HUMAN Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 20 (CEACAM20), transcript variant 5L, mRNA. 504 integral to membrane central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1) 15 Prostate(69;0.0352) TCACTTACCGGAACTGGGCTC 0.602000 OREG0025538 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 18 9 0 0 1 0 0 NME4 4833 broad.mit.edu 37 16 449673 449673 + Missense_Mutation SNP G A A TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr16:449673G>A uc002cgz.3 + 3 405 c.374G>A c.(373-375)gGa>gAa p.G125E DECR2_uc021szq.1_5'Flank|DECR2_uc002chb.3_5'Flank|DECR2_uc002chc.3_5'Flank|DECR2_uc002chd.3_5'Flank NM_005009 NP_005000 O00746 NDKM_HUMAN Homo sapiens non-metastatic cells 4, protein expressed in (NME4), nuclear gene encoding mitochondrial protein, mRNA. 125 CTP biosynthetic process|GTP biosynthetic process|UTP biosynthetic process|nucleobase, nucleoside and nucleotide interconversion mitochondrial inner membrane|mitochondrial intermembrane space ATP binding|metal ion binding|nucleoside diphosphate kinase activity NS(1)|lung(1)|stomach(1)|urinary_tract(1) 4 Hepatocellular(16;0.00015) GCCATGATTGGACACACCGAC 0.617000 102 110 0 0 1 0 0 CNTN2 6900 broad.mit.edu 37 1 205030522 205030522 + Missense_Mutation SNP C T T rs139732336 byFrequency TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr1:205030522C>T uc001hbr.3 + 7 1216 c.947C>T c.(946-948)aCc>aTc p.T316I CNTN2_uc001hbq.1_Missense_Mutation_p.T207I|CNTN2_uc009xbi.3_Missense_Mutation_p.T207I|CNTN2_uc001hbs.3_Missense_Mutation_p.T104I NM_005076 NP_005067 Q02246 CNTN2_HUMAN Homo sapiens contactin 2 (axonal) (CNTN2), mRNA. 316 Ig-like C2-type 3. axon guidance|clustering of voltage-gated potassium channels anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part identical protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 54 all_cancers(21;0.144)|Breast(84;0.0437) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158) GGCCGAGACACCGTGCAGGGC 0.642000 OREG0014144 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 25 21 0 0 1 0 0 GSTM5 2949 broad.mit.edu 37 1 110255296 110255296 + Silent SNP G A A TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr1:110255296G>A uc001dyn.3 + 1 164 c.93G>A c.(91-93)aaG>aaA p.K31K GSTM5_uc010ovu.1_5'UTR NM_000851 NP_000842 P46439 GSTM5_HUMAN Homo sapiens glutathione S-transferase mu 5 (GSTM5), mRNA. 31 GST N-terminal. xenobiotic metabolic process endoplasmic reticulum membrane glutathione transferase activity NS(1)|central_nervous_system(6)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2) 21 all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244) Colorectal(144;0.0131)|all cancers(265;0.0252)|Epithelial(280;0.0265)|Lung(183;0.0425)|COAD - Colon adenocarcinoma(174;0.0474)|LUSC - Lung squamous cell carcinoma(189;0.228) Glutathione(DB00143) ATGTGGAAAAGAAGTACACGC 0.632000 89 86 0 0 1 0 0 CNTN3 5067 broad.mit.edu 37 3 74347288 74347288 + Missense_Mutation SNP G A A TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr3:74347288G>A uc003dpm.1 - 16 2301 c.2221C>T c.(2221-2223)Cgc>Tgc p.R741C NM_020872 NP_065923 Q9P232 CNTN3_HUMAN Homo sapiens contactin 3 (plasmacytoma associated) (CNTN3), mRNA. 741 Fibronectin type-III 2. cell adhesion anchored to membrane|plasma membrane protein binding NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 83 Lung NSC(201;0.138)|Lung SC(41;0.21) Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01) CCAAGAGGGCGGAAAGCAACA 0.463000 44 32 0 0 1 0 0 OR5M11 219487 broad.mit.edu 37 11 56309822 56309822 + Silent SNP C T T TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr11:56309822C>T uc010rjl.2 - 0 912 c.912G>A c.(910-912)ctG>ctA p.L304L OR8U8_uc001nit.2_Intron NM_001005245 NP_001005245 Q96RB7 OR5MB_HUMAN Homo sapiens olfactory receptor, family 5, subfamily M, member 11 (OR5M11), mRNA. 304 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14) 18 TATTTCATCTCAGGACATTCT 0.383000 26 12 0 0 1 0 0 JAKMIP2 9832 broad.mit.edu 37 5 147024539 147024539 + Silent SNP G A A rs147082202 byFrequency TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr5:147024539G>A uc010jgo.1 - 4 1105 c.957C>T c.(955-957)acC>acT p.T319T JAKMIP2_uc003loq.1_Silent_p.T319T|JAKMIP2_uc011dbx.1_Silent_p.T277T|JAKMIP2_uc003lor.1_Silent_p.T319T|LOC153469_uc003lop.1_Intron NM_014790 NP_055605 Q96AA8 JKIP2_HUMAN Homo sapiens janus kinase and microtubule interacting protein 2 (JAKMIP2), mRNA. 319 Golgi apparatus NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2) 64 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ATTGCTTTTCGGTTTCCCGCA 0.483000 7 62 0 0 1 0 0 TPM1 7168 broad.mit.edu 37 15 63349244 63349244 + Missense_Mutation SNP C T T TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr15:63349244C>T uc002alm.3 + 3 618 c.427C>T c.(427-429)Cgt>Tgt p.R143C TPM1_uc002alg.3_Missense_Mutation_p.R101C|TPM1_uc002alh.3_Missense_Mutation_p.R101C|TPM1_uc002ali.3_Missense_Mutation_p.R101C|TPM1_uc002alj.3_Missense_Mutation_p.R101C|TPM1_uc002alk.3_Missense_Mutation_p.R101C|TPM1_uc002all.3_Missense_Mutation_p.R101C|TPM1_uc010uie.2_Missense_Mutation_p.R101C|TPM1_uc002alp.3_Missense_Mutation_p.R101C|TPM1_uc010uif.2_Missense_Mutation_p.R65C|TPM1_uc002alr.3_Missense_Mutation_p.R65C|TPM1_uc002als.3_Missense_Mutation_p.R65C|TPM1_uc010uig.2_Missense_Mutation_p.R65C|TPM1_uc002alt.3_Missense_Mutation_p.R65C NM_001018008 NP_001018008 P09493 TPM1_HUMAN Homo sapiens tropomyosin 1 (alpha) (TPM1), transcript variant 6, mRNA. 101 cardiac muscle contraction|cellular component movement|cellular response to reactive oxygen species|muscle filament sliding|negative regulation of cell migration|positive regulation of ATPase activity|positive regulation of cell adhesion|positive regulation of heart rate by epinephrine|positive regulation of stress fiber assembly|regulation of muscle contraction|ruffle organization|sarcomere organization|ventricular cardiac muscle tissue morphogenesis|wound healing bleb|cytosol|muscle thin filament tropomyosin|ruffle membrane|stress fiber actin binding|structural constituent of cytoskeleton|structural constituent of muscle endometrium(1)|large_intestine(1)|lung(2) 4 AGAGTTGGATCGTGCCCAGGA 0.517000 165 112 0 0 1 0 0 SLIT3 6586 broad.mit.edu 37 5 168098237 168098237 + Missense_Mutation SNP C T T TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr5:168098237C>T uc010jjg.3 - 33 4534 c.4114G>A c.(4114-4116)Gat>Aat p.D1372N SLIT3_uc003mab.3_Missense_Mutation_p.D1365N NM_003062 NP_003053 O75094 SLIT3_HUMAN Homo sapiens slit homolog 3 (Drosophila) (SLIT3), mRNA. 1365 EGF-like 8. Roundabout signaling pathway|apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus extracellular space|mitochondrion Roundabout binding|calcium ion binding endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) GCCTCCTGATCGCAGAGTGGG 0.687000 5 30 0 0 1 0 0 PEG3 5178 broad.mit.edu 37 19 57334138 57334138 + Missense_Mutation SNP G A A TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr19:57334138G>A uc002qnu.2 - 2 899 c.548C>T c.(547-549)aCc>aTc p.T183I PEG3_uc010ygr.1_5'UTR|PEG3_uc010ygq.1_5'UTR|PEG3_uc002qnr.2_Missense_Mutation_p.T58I|PEG3_uc010etp.2_Missense_Mutation_p.T58I|PEG3_uc010ygs.1_Missense_Mutation_p.T58I|PEG3_uc002qnq.2_Missense_Mutation_p.T58I|PEG3_uc002qnt.2_Missense_Mutation_p.T184I|PEG3_uc002qnv.2_Missense_Mutation_p.T183I|PEG3_uc002qnw.2_Missense_Mutation_p.T58I|PEG3_uc002qnx.2_Missense_Mutation_p.T57I|PEG3_uc010etr.2_Missense_Mutation_p.T183I NM_001146186 NP_001139657 Q9GZU2 PEG3_HUMAN Homo sapiens paternally expressed 3 (PEG3), transcript variant 4, mRNA. 183 apoptosis|viral reproduction cytoplasm|nucleus nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6) 170 Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0269) TGGGTTCCTGGTGTGGGACCA 0.552000 34 27 0 0 1 0 0 MYOF 26509 broad.mit.edu 37 10 95147579 95147579 + Missense_Mutation SNP G A A TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr10:95147579G>A uc001kin.3 - 18 1796 c.1673C>T c.(1672-1674)tCa>tTa p.S558L MYOF_uc001kio.3_Missense_Mutation_p.S545L NM_013451 NP_038479 Q9NZM1 MYOF_HUMAN Homo sapiens myoferlin (MYOF), transcript variant 1, mRNA. 558 blood circulation|muscle contraction|plasma membrane repair caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane phospholipid binding|protein binding p.I557T(1) NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 67 GTCATCATTTGAAATGGGCTC 0.468000 96 84 0 0 1 0 0 ASH1L 55870 broad.mit.edu 37 1 155313166 155313166 + Silent SNP G A A TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr1:155313166G>A uc009wqq.3 - 23 8727 c.8247C>T c.(8245-8247)atC>atT p.I2749I ASH1L_uc001fkt.3_Silent_p.I2744I NM_018489 NP_060959 Q9NR48 ASH1L_HUMAN Homo sapiens ash1 (absent, small, or homeotic)-like (Drosophila) (ASH1L), mRNA. 2749 BAH. DNA packaging|cell-cell signaling|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter Golgi apparatus|chromosome|nucleus|tight junction DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4) 124 Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145) Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021) CCAAGGGAATGATCTCATAGA 0.468000 69 94 0 0 1 0 0 SGSM2 9905 broad.mit.edu 37 17 2278814 2278815 + Missense_Mutation DNP CC TT TT TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr17:2278814_2278815CC>TT uc002fum.4 + 17 2306_2307 c.2129_2130CC>TT c.(2128-2130)ccc>cTT p.P710L SGSM2_uc002fun.4_Missense_Mutation_p.P665L|SGSM2_uc010vqw.2_Missense_Mutation_p.P665L|SGSM2_uc002fuq.3_5'Flank NM_014853 NP_055668 O43147 SGSM2_HUMAN Homo sapiens small G protein signaling modulator 2 (SGSM2), transcript variant 1, mRNA. 665 Rab-GAP TBC. intracellular Rab GTPase activator activity biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 Colorectal(2;5.15e-05)|READ - Rectum adenocarcinoma(2;0.000115) GATCTGGAACCCCCGGAGCCCC 0.653000 54 50 0 0 1 0 0 GPATCH1 55094 broad.mit.edu 37 19 33597613 33597613 + Missense_Mutation SNP C T T TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr19:33597613C>T uc002nug.1 + 9 1407 c.1093C>T c.(1093-1095)Cca>Tca p.P365S NM_018025 NP_060495 Q9BRR8 GPTC1_HUMAN Homo sapiens G patch domain containing 1 (GPATCH1), mRNA. 365 catalytic step 2 spliceosome nucleic acid binding breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|prostate(4)|skin(4) 40 Esophageal squamous(110;0.137) CTATCCACCTCCAGAGCTGCC 0.458000 104 63 0 0 1 0 0 U2SURP 23350 broad.mit.edu 37 3 142762057 142762057 + Missense_Mutation SNP C T T TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr3:142762057C>T uc003evh.1 + 23 2582 c.2483C>T c.(2482-2484)tCt>tTt p.S828F U2SURP_uc003evi.1_Missense_Mutation_p.S419F|U2SURP_uc003evj.1_Non-coding_Transcript|U2SURP_uc003evk.1_Missense_Mutation_p.S827F|U2SURP_uc003evl.1_Missense_Mutation_p.S395F NM_001080415 NP_001073884 O15042 SR140_HUMAN Homo sapiens U2 snRNP-associated SURP domain containing (U2SURP), mRNA. 828 Glu-rich. RNA processing nucleus RNA binding|nucleotide binding NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1) 31 ATGACTGAGTCTAAGTTCTCT 0.353000 6 7 0 0 1 0 0 C10orf71 118461 broad.mit.edu 37 10 50531240 50531240 + Missense_Mutation SNP G A A TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr10:50531240G>A uc021pqb.1 + 0 650 c.650G>A c.(649-651)gGa>gAa p.G217E C10orf71_uc021pqa.1_Missense_Mutation_p.G216E|C10orf71_uc021pqc.1_Missense_Mutation_p.G217E NM_001135196 NP_001128668 Q711Q0 CJ071_HUMAN Homo sapiens chromosome 10 open reading frame 71 (C10orf71), transcript variant 1, mRNA. 217 endometrium(1) 1 AGGAAGCACGGAGAACAGGAG 0.547000 40 35 0 0 1 0 0 C10orf96 374355 broad.mit.edu 37 10 118084885 118084885 + Silent SNP C T T TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr10:118084885C>T uc001lck.3 + 2 401 c.150C>T c.(148-150)atC>atT p.I50I NM_198515 NP_940917 P0C7W6 CJ096_HUMAN Homo sapiens chromosome 10 open reading frame 96 (C10orf96), mRNA. 50 kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(3) 18 Lung NSC(174;0.204)|all_lung(145;0.248) all cancers(201;0.014) AAGAGAAAATCAAGCTGGAAT 0.333000 19 9 0 0 1 0 0 XKR7 343702 broad.mit.edu 37 20 30584690 30584690 + Silent SNP C T T TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr20:30584690C>T uc002wxe.3 + 2 1344 c.1170C>T c.(1168-1170)atC>atT p.I390I NM_001011718 NP_001011718 Q5GH72 XKR7_HUMAN Homo sapiens XK, Kell blood group complex subunit-related family, member 7 (XKR7), mRNA. 390 integral to membrane breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 34 Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347) ACCACTGCATCGTCCTGCTGG 0.582000 45 35 0 0 1 0 0 SALL1 6299 broad.mit.edu 37 16 51175717 51175717 + Missense_Mutation SNP G A A TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr16:51175717G>A uc021tif.1 - 1 447 c.125C>T c.(124-126)aCt>aTt p.T42I SALL1_uc021tid.1_Missense_Mutation_p.T42I|SALL1_uc021tie.1_Missense_Mutation_p.T139I|SALL1_uc010cbv.3_Intron NM_001127892 NP_001121364 Q9NSC2 SALL1_HUMAN Homo sapiens sal-like 1 (Drosophila) (SALL1), transcript variant 2, mRNA. 139 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.D41H(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) GCCGCTGGAAGTGCCGCTGCC 0.632000 47 29 0 0 1 0 0 PCLO 27445 broad.mit.edu 37 7 82580617 82580617 + Missense_Mutation SNP G A A TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr7:82580617G>A uc003uhx.2 - 5 9576 c.9287C>T c.(9286-9288)cCa>cTa p.P3096L PCLO_uc003uhv.2_Missense_Mutation_p.P3096L|PCLO_uc010lec.3_Missense_Mutation_p.P61L NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA. 3027 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity p.P3096A(1) 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 AGAGGGTGTTGGAGTTGCTAC 0.468000 15 9 0 0 1 0 0 CFHR1 3078 broad.mit.edu 37 1 196762513 196762513 + Missense_Mutation SNP G A A TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr1:196762513G>A uc001gtl.3 + 5 950 c.863G>A c.(862-864)aGa>aAa p.R288K CFH_uc021pgt.1_Intron|CFHR1_uc010poy.2_Missense_Mutation_p.R227K|CFHR1_uc001gtm.3_Intron NM_021023 NP_066303 Q03591 FHR1_HUMAN Homo sapiens complement factor H-related 3 (CFHR3), transcript variant 1, mRNA. 286 Sushi 5. complement activation extracellular space NS(1)|kidney(1)|large_intestine(2)|lung(7) 11 AGAAGTGACAGAAAATATTAT 0.279000 48 33 0 0 1 0 0 SCN3B 55800 broad.mit.edu 37 11 123508998 123508998 + Silent SNP G A A TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr11:123508998G>A uc001pza.1 - 4 887 c.480C>T c.(478-480)atC>atT p.I160I SCN3B_uc001pzb.1_Silent_p.I160I NM_001040151 NP_060870 Q9NY72 SCN3B_HUMAN Homo sapiens sodium channel, voltage-gated, type III, beta (SCN3B), transcript variant 2, mRNA. 160 axon guidance integral to membrane|plasma membrane voltage-gated sodium channel activity central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|skin(2) 26 Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;5.37e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0227) TGTACATCATGATTTCTGAGA 0.463000 47 33 0 0 1 0 0 LPIN2 9663 broad.mit.edu 37 18 2931394 2931394 + Missense_Mutation SNP G A A TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr18:2931394G>A uc002klo.3 - 8 1555 c.1316C>T c.(1315-1317)tCt>tTt p.S439F NM_014646 NP_055461 Q92539 LPIN2_HUMAN Homo sapiens lipin 2 (LPIN2), mRNA. 439 fatty acid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|triglyceride biosynthetic process cytosol|endoplasmic reticulum membrane|nucleus phosphatidate phosphatase activity|transcription coactivator activity autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(1) 29 READ - Rectum adenocarcinoma(2;0.0419)|Colorectal(6;0.156) CTGGGAGCCAGAGAGTGTGTC 0.577000 17 18 0 0 1 0 0 HYDIN 54768 broad.mit.edu 37 GL000192.1 222757 222757 + RNA SNP A G G TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chrGL000192.1:222757A>G uc010yij.1 - 17 c.3166T>C NM_017558 Q4G0P3 HYDIN_HUMAN Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 2, mRNA. 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) AGTTTTAACAAAAAGAAAAAA 0.373000 12 6 0 0 1 0 0 ZNF732 654254 broad.mit.edu 37 4 265889 265889 + Missense_Mutation SNP C T T TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr4:265889C>T uc021xka.1 - 3 757 c.757G>A c.(757-759)Gaa>Aaa p.E253K ZNF732_uc011buu.1_Missense_Mutation_p.E221K NM_001137608 NP_001131080 B4DXR9 ZN732_HUMAN Homo sapiens zinc finger protein 732 (ZNF732), mRNA. 253 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|lung(2) 3 CCACATTCTTCATATTTGTAA 0.373000 6 8 0 0 1 0 0 MYH14 79784 broad.mit.edu 37 19 50804961 50804961 + Missense_Mutation SNP C T T TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr19:50804961C>T uc010enu.1 + 39 5560 c.5513C>T c.(5512-5514)tCa>tTa p.S1838L MYH14_uc002prq.1_Missense_Mutation_p.S1805L|MYH14_uc002prr.1_Missense_Mutation_p.S1797L|MYH14_uc010ycb.2_Missense_Mutation_p.S148L|MYH14_uc002prs.1_Missense_Mutation_p.S148L NM_001145809 NP_001139281 Q7Z406 MYH14_HUMAN Homo sapiens myosin, heavy chain 14, non-muscle (MYH14), transcript variant 3, mRNA. 1797 axon guidance|regulation of cell shape myosin complex ATP binding|actin binding|calmodulin binding|motor activity central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 46 all_neural(266;0.0571)|Ovarian(192;0.0728) OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195) CGCAGTTTCTCAGCCAAGGCA 0.627000 53 44 0 0 1 0 0 SYT1 6857 broad.mit.edu 37 12 79611462 79611462 + Missense_Mutation SNP C T T TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr12:79611462C>T uc001sys.3 + 4 834 c.163C>T c.(163-165)Cca>Tca p.P55S SYT1_uc001syt.3_Missense_Mutation_p.P55S|SYT1_uc001syu.3_Missense_Mutation_p.P55S|SYT1_uc001syv.3_Missense_Mutation_p.P55S NM_001135805 NP_005630 P21579 SYT1_HUMAN Homo sapiens synaptotagmin I (SYT1), transcript variant 2, mRNA. 55 detection of calcium ion|glutamate secretion|neurotransmitter secretion|protein homooligomerization cell junction|chromaffin granule membrane|clathrin sculpted acetylcholine transport vesicle membrane|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane 1-phosphatidylinositol binding|low-density lipoprotein particle receptor binding|metal ion binding|syntaxin-1 binding|transporter activity p.P55S(2) NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|pancreas(2)|skin(6) 25 GCATAAAATTCCATGTGAGTA 0.373000 3 40 0 0 1 0 0 MMP1 4312 broad.mit.edu 37 11 102667484 102667484 + Missense_Mutation SNP C T T TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr11:102667484C>T uc001phi.2 - 3 679 c.536G>A c.(535-537)gGa>gAa p.G179E LOC100288077_uc001phh.1_Intron|MMP1_uc010ruv.1_Missense_Mutation_p.G113E NM_002421 NP_001139410 P03956 MMP1_HUMAN Homo sapiens matrix metallopeptidase 1 (interstitial collagenase) (MMP1), transcript variant 1, mRNA. 179 Metalloprotease. blood coagulation|collagen catabolic process|interspecies interaction between organisms|leukocyte migration|proteolysis proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding breast(2)|endometrium(1)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 30 all_epithelial(12;0.0127) all_neural(303;0.000318)|all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) Epithelial(9;0.072)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.233) OV - Ovarian serous cystadenocarcinoma(223;1.82e-07)|Epithelial(105;1.51e-06)|BRCA - Breast invasive adenocarcinoma(274;0.014) AGCAAGATTTCCTCCAGGTCC 0.438000 25 26 0 0 1 0 0 HRNR 388697 broad.mit.edu 37 1 152188460 152188460 + Missense_Mutation SNP G A A TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr1:152188460G>A uc001ezt.1 - 2 5721 c.5645C>T c.(5644-5646)tCt>tTt p.S1882F NM_001009931 NP_001009931 Q86YZ3 HORN_HUMAN Homo sapiens hornerin (HRNR), mRNA. 1882 keratinization calcium ion binding|protein binding autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6) 192 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) AGTGTAACCAGAGGACTGCCA 0.557000 886 86 0 0 1 0 0 SOS1 6654 broad.mit.edu 37 2 39234270 39234270 + Silent SNP G A A TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr2:39234270G>A uc002rrk.4 - 15 2616 c.2575C>T c.(2575-2577)Cta>Tta p.L859L SOS1_uc002rrj.4_Silent_p.L473L NM_005633 NP_005624 Q07889 SOS1_HUMAN Homo sapiens son of sevenless homolog 1 (Drosophila) (SOS1), mRNA. 859 Ras-GEF. Ras protein signal transduction|apoptosis|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway cytosol DNA binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|protein binding autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2) 75 all_hematologic(82;0.21) AAGACTTGTAGAATCTCAATA 0.348000 Noonan syndrome 66 56 0 0 1 0 0 GORASP2 26003 broad.mit.edu 37 2 171819348 171819348 + Splice_Site SNP G A A TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr2:171819348G>A uc002ugk.3 + 9 1726 c.911_splice c.e9-1 p.G304_splice GORASP2_uc002ugj.3_Splice_Site_p.G236_splice|GORASP2_uc010zdl.2_Splice_Site_p.G316_splice|GORASP2_uc010zdm.2_Splice_Site_p.G260_splice|GORASP2_uc002ugl.3_Splice_Site_p.G236_splice|GORASP2_uc002ugm.3_Splice_Site_p.G86_splice NM_015530 NP_056345 Q9H8Y8 GORS2_HUMAN Homo sapiens golgi reassembly stacking protein 2, 55kDa (GORASP2), transcript variant 1, mRNA. 304 Pro-rich. Golgi membrane breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1) 14 CTTCTCTTCAGGTCTGATGCC 0.473000 56 56 0 0 1 0 0 CHRM3 1131 broad.mit.edu 37 1 240072268 240072268 + Missense_Mutation SNP C T T TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr1:240072268C>T uc021plc.1 + 0 1517 c.1517C>T c.(1516-1518)cCa>cTa p.P506L CHRM3_uc001hyp.3_Missense_Mutation_p.P506L NM_000740 NP_000731 P20309 ACM3_HUMAN Homo sapiens cholinergic receptor, muscarinic 3 (CHRM3), mRNA. 506 cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1) 51 Ovarian(103;0.127) all_cancers(173;0.00567)|all_neural(198;0.203) OV - Ovarian serous cystadenocarcinoma(106;0.00989) Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505) ACTTGGACCCCATACAACATC 0.502000 94 93 0 0 1 0 0 COL4A6 1288 broad.mit.edu 37 X 107417842 107417842 + Missense_Mutation SNP C T T TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chrX:107417842C>T uc004enw.4 - 30 3072 c.2969G>A c.(2968-2970)gGa>gAa p.G990E COL4A6_uc004env.4_Missense_Mutation_p.G989E|COL4A6_uc011msn.2_Missense_Mutation_p.G989E|COL4A6_uc010npk.3_Missense_Mutation_p.G989E NM_001847 NP_001838 Q14031 CO4A6_HUMAN Homo sapiens collagen, type IV, alpha 6 (COL4A6), transcript variant A, mRNA. 990 Triple-helical region. cell adhesion|extracellular matrix organization collagen type IV extracellular matrix structural constituent|protein binding p.G989E(2) breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2) 92 ACCAGCCTCTCCTTTGTCACC 0.542000 Alport syndrome with Diffuse Leiomyomatosis 2 37 0 0 1 0 0 OR2A25 392138 broad.mit.edu 37 7 143771513 143771513 + Silent SNP C T T TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr7:143771513C>T uc011ktx.2 + 0 201 c.201C>T c.(199-201)gtC>gtT p.V67V NM_001004488 NP_001004488 A4D2G3 O2A25_HUMAN Homo sapiens olfactory receptor, family 2, subfamily A, member 25 (OR2A25), mRNA. 67 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(16)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1) 24 Melanoma(164;0.0783) ACCTGGCGGTCGTCGACATCG 0.577000 63 46 0 0 1 0 0 ABCA13 154664 broad.mit.edu 37 7 48392023 48392023 + Missense_Mutation SNP G A A TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr7:48392023G>A uc003toq.2 + 30 10651 c.10627G>A c.(10627-10629)Gaa>Aaa p.E3543K ABCA13_uc010kys.1_Missense_Mutation_p.E617K|ABCA13_uc003tos.1_Missense_Mutation_p.E369K NM_152701 NP_689914 Q86UQ4 ABCAD_HUMAN Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 13 (ABCA13), mRNA. 3543 transport integral to membrane ATP binding|ATPase activity p.Q3543H(1) breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 270 GACTGGGCAGGAAGCCCTGGA 0.562000 22 10 0 0 1 0 0 TMPRSS7 344805 broad.mit.edu 37 3 111794183 111794183 + Missense_Mutation SNP C T T TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr3:111794183C>T uc010hqb.2 + 12 1591 c.1421C>T c.(1420-1422)tCc>tTc p.S474F TMPRSS7_uc011bhr.1_Missense_Mutation_p.S329F NM_001042575 NP_001036040 Q7RTY8 TMPS7_HUMAN Homo sapiens transmembrane protease, serine 7 (TMPRSS7), transcript variant 1, mRNA. 600 CUB 2. proteolysis integral to membrane|plasma membrane serine-type endopeptidase activity breast(2)|endometrium(6)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 34 AGCAGGAGTTCCTCCGCCCTT 0.547000 119 113 0 0 1 0 0 CCDC33 80125 broad.mit.edu 37 15 74623549 74623549 + Silent SNP C T T TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr15:74623549C>T uc002axo.3 + 14 2077 c.1683C>T c.(1681-1683)atC>atT p.I561I CCDC33_uc002axp.3_Silent_p.I383I|CCDC33_uc021sqi.1_Non-coding_Transcript|CCDC33_uc002axq.3_Silent_p.I154I|CCDC33_uc002axr.3_Silent_p.I154I NM_025055 NP_079331 Q8N5R6 CCD33_HUMAN Homo sapiens coiled-coil domain containing 33 (CCDC33), transcript variant 1, mRNA. 764 protein binding breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 39 TCCAGGTGATCGAGAAGATGG 0.652000 42 41 0 0 1 0 0 PLXNB1 5364 broad.mit.edu 37 3 48456265 48456265 + Silent SNP G A A TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr3:48456265G>A uc003csw.2 - 20 4422 c.4152C>T c.(4150-4152)aaC>aaT p.N1384N PLXNB1_uc003cst.2_5'Flank|PLXNB1_uc003csu.2_Silent_p.N1201N|PLXNB1_uc003csx.2_Silent_p.N1384N|PLXNB1_uc010hjx.1_Non-coding_Transcript|PLXNB1_uc003csy.1_Silent_p.N92N NM_002673 NP_002664 O43157 PLXB1_HUMAN Homo sapiens plexin B1 (PLXNB1), transcript variant 1, mRNA. 1384 axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 47 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619) GGTCCTCAGGGTTGAGTGGCT 0.587000 116 105 0 0 1 0 0 EPB41L4A 64097 broad.mit.edu 37 5 111643179 111643179 + Silent SNP C T T TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr5:111643179C>T uc003kpv.1 - 1 382 c.108G>A c.(106-108)acG>acA p.T36T EPB41L4A_uc003kpw.1_Silent_p.T36T NM_022140 NP_071423 Q9HCS5 E41LA_HUMAN Homo sapiens erythrocyte membrane protein band 4.1 like 4A (EPB41L4A), mRNA. 36 FERM. cytoplasm|cytoskeleton|extrinsic to membrane cytoskeletal protein binding breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(2)|skin(1) 34 all_cancers(142;4.93e-06)|all_epithelial(76;2.28e-08)|Prostate(80;0.000244)|Colorectal(10;0.000788)|Ovarian(225;0.0448)|Lung NSC(167;0.126)|all_lung(232;0.135) OV - Ovarian serous cystadenocarcinoma(64;6.24e-09)|Epithelial(69;1.43e-07)|all cancers(49;2.78e-05)|COAD - Colon adenocarcinoma(37;0.0467)|Colorectal(14;0.0791) CGGAACCTTTCGTTGACTTCT 0.383000 23 26 0 0 1 0 0 RAG1 5896 broad.mit.edu 37 11 36597850 36597850 + Missense_Mutation SNP C T T TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr11:36597850C>T uc021qgb.1 + 0 2996 c.2996C>T c.(2995-2997)tCc>tTc p.S999F RAG1_uc001mwt.3_Intron|RAG1_uc001mwu.4_Missense_Mutation_p.S999F NM_000448 NP_000439 P15918 RAG1_HUMAN Homo sapiens recombination activating gene 1 (RAG1), mRNA. 999 T cell differentiation in thymus|V(D)J recombination|histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination nucleus endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1) 65 all_lung(20;0.226) all_hematologic(20;0.107) TTGTACACCTCCAAATACCTC 0.448000 Familial Hemophagocytic Lymphohistiocytosis 63 54 0 0 1 0 0 WDFY2 115825 broad.mit.edu 37 13 52332429 52332429 + Missense_Mutation SNP T G G TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr13:52332429T>G uc001vfp.3 + 10 1506 c.1166T>G c.(1165-1167)gTt>gGt p.V389G NM_052950 NP_443182 Q96P53 WDFY2_HUMAN Homo sapiens WD repeat and FYVE domain containing 2 (WDFY2), mRNA. 389 metal ion binding breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(4)|skin(2)|upper_aerodigestive_tract(1) 16 Breast(56;0.000208)|Lung NSC(96;0.000517)|Prostate(109;0.0041)|Hepatocellular(98;0.0652)|Myeloproliferative disorder(33;0.164)|all_neural(104;0.191) GBM - Glioblastoma multiforme(99;9e-08) ACTGACAAGGTTATTAAGGTA 0.428000 21 25 0 0 1 0 0 DAG1 1605 broad.mit.edu 37 3 49568993 49568993 + Missense_Mutation SNP C T T TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr3:49568993C>T uc021wxz.1 + 2 1518 c.1049C>T c.(1048-1050)cCa>cTa p.P350L DAG1_uc021wya.1_Missense_Mutation_p.P350L|DAG1_uc021wyb.1_Missense_Mutation_p.P350L|DAG1_uc021wyc.1_Missense_Mutation_p.P350L|DAG1_uc021wyd.1_Missense_Mutation_p.P350L|DAG1_uc021wye.1_Missense_Mutation_p.P350L|DAG1_uc021wyf.1_Missense_Mutation_p.P350L|DAG1_uc021wyg.1_Missense_Mutation_p.P350L|DAG1_uc021wyh.1_Missense_Mutation_p.P350L|DAG1_uc021wyi.1_Missense_Mutation_p.P350L|DAG1_uc021wyj.1_Missense_Mutation_p.P350L|DAG1_uc021wyk.1_Missense_Mutation_p.P350L|DAG1_uc003cxc.4_Missense_Mutation_p.P350L NM_001177643 NP_001171114 Q14118 DAG1_HUMAN Homo sapiens dystroglycan 1 (dystrophin-associated glycoprotein 1) (DAG1), transcript variant 12, mRNA. 350 Mucin-like domain.|Required for laminin recognition.|Thr-rich. cytoskeletal anchoring at plasma membrane|interspecies interaction between organisms|microtubule anchoring|negative regulation of MAPKKK cascade|negative regulation of cell migration|negative regulation of protein kinase B signaling cascade basement membrane|contractile ring|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|extracellular space|filopodium|integral to membrane|integral to membrane of membrane fraction|lamellipodium|nucleoplasm actin binding|alpha-actinin binding|calcium ion binding|laminin-1 binding|receptor activity|structural constituent of muscle|tubulin binding|vinculin binding NS(1)|autonomic_ganglia(2)|breast(2)|endometrium(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)|skin(1) 23 BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.00241)|KIRC - Kidney renal clear cell carcinoma(197;0.00258) ATTGCTCCTCCAACAGAGACC 0.607000 154 99 0 0 1 0 0 ZNF19 7567 broad.mit.edu 37 16 71509888 71509888 + Missense_Mutation SNP G A A TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr16:71509888G>A uc010cgc.1 - 5 1068 c.562C>T c.(562-564)Cct>Tct p.P188S ZNF23_uc002fai.3_Intron|ZNF19_uc002fak.1_Missense_Mutation_p.P176S|ZNF19_uc002fal.1_Missense_Mutation_p.P176S|ZNF19_uc002fam.1_Missense_Mutation_p.P188S NM_006961 NP_008892 P17023 ZNF19_HUMAN Homo sapiens zinc finger protein 19 (ZNF19), mRNA. 188 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|prostate(1)|stomach(1) 22 Ovarian(137;0.00965) BRCA - Breast invasive adenocarcinoma(221;0.0161)|Kidney(780;0.0598) CACTCAAAAGGTTTCTCCCCA 0.453000 35 27 0 0 1 0 0 TTLL13 440307 broad.mit.edu 37 15 90794092 90794093 + Missense_Mutation DNP GG AA AA TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr15:90794092_90794093GG>AA uc002bpd.1 + 1 518_519 c.230_231GG>AA c.(229-231)ggg>gAA p.G77E TTLL13_uc002bpe.1_Non-coding_Transcript NM_001029964 NP_001025135 A6NNM8 TTL13_HUMAN Homo sapiens tubulin tyrosine ligase-like family, member 13 (TTLL13), mRNA. 77 protein modification process ATP binding|tubulin-tyrosine ligase activity NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|prostate(1) 16 Melanoma(11;0.00551)|Lung NSC(78;0.0178)|all_lung(78;0.0378) KIRC - Kidney renal clear cell carcinoma(17;0.0286)|BRCA - Breast invasive adenocarcinoma(143;0.0323)|Kidney(142;0.0514) TTAGAAGCTGGGAGGAGGAAGA 0.510000 119 96 0 0 1 0 0 EGR2 1959 broad.mit.edu 37 10 64573723 64573723 + Silent SNP G A A TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr10:64573723G>A uc010qio.2 - 2 734 c.714C>T c.(712-714)gaC>gaT p.D238D EGR2_uc010qim.2_Silent_p.D225D|EGR2_uc010qin.2_Silent_p.D175D|EGR2_uc001jmi.3_Silent_p.D225D|EGR2_uc009xph.3_Silent_p.D225D NM_001136179 NP_001129651 P11161 EGR2_HUMAN Homo sapiens early growth response 2 (EGR2), transcript variant 4, mRNA. 225 fat cell differentiation|protein export from nucleus|transcription from RNA polymerase II promoter cytoplasm|nucleus RNA polymerase II activating transcription factor binding|chromatin binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1) 36 Prostate(12;0.0297)|all_hematologic(501;0.228) ATCCAGGATAGTCTGGGATCA 0.602000 90 90 0 0 1 0 0 SLC1A4 6509 broad.mit.edu 37 2 65245773 65245773 + Missense_Mutation SNP A T T TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr2:65245773A>T uc010yqa.2 + 6 1607 c.1324A>T c.(1324-1326)Act>Tct p.T442S SLC1A4_uc010ypz.2_Missense_Mutation_p.T144S|SLC1A4_uc002sdh.3_Missense_Mutation_p.T222S NM_003038 NP_003029 P43007 SATT_HUMAN Homo sapiens solute carrier family 1 (glutamate/neutral amino acid transporter), member 4 (SLC1A4), transcript variant 1, mRNA. 442 cellular nitrogen compound metabolic process|cognition|synaptic transmission, glutamatergic intermediate filament|melanosome L-alanine transmembrane transporter activity|L-cystine transmembrane transporter activity|L-hydroxyproline transmembrane transporter activity|L-proline transmembrane transporter activity|L-serine transmembrane transporter activity|L-threonine transmembrane transporter activity|chloride channel activity|sodium:dicarboxylate symporter activity breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|urinary_tract(1) 13 L-Alanine(DB00160) TGGGCTGCCTACTCATGACCT 0.547000 70 58 0 0 1 0 0 A2M 2 broad.mit.edu 37 12 9265097 9265097 + Silent SNP G A A TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr12:9265097G>A uc001qvk.1 - 2 419 c.306C>T c.(304-306)ttC>ttT p.F102F A2M_uc009zgk.1_Intron NM_000014 NP_000005 P01023 A2MG_HUMAN Homo sapiens alpha-2-macroglobulin (A2M), mRNA. 102 blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|extracellular space|platelet alpha granule lumen GTPase activator activity|enzyme binding|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 77 Bacitracin(DB00626)|Becaplermin(DB00102) GGACAGTGAGGAACATTACCT 0.483000 17 19 0 0 1 0 0 KCNB1 3745 broad.mit.edu 37 20 48098603 48098603 + Nonsense_Mutation SNP G A A TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr20:48098603G>A uc002xur.1 - 0 581 c.415C>T c.(415-417)Cag>Tag p.Q139* KCNB1_uc002xus.1_Nonsense_Mutation_p.Q139* NM_004975 NP_004966 Q14721 KCNB1_HUMAN Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 1 (KCNB1), mRNA. 139 energy reserve metabolic process|regulation of insulin secretion voltage-gated potassium channel complex protein binding|voltage-gated potassium channel activity central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1) 53 BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166) TCTTTCTTCTGGTGGTAGCGG 0.597000 101 71 0 0 1 0 0 FLG 2312 broad.mit.edu 37 1 152287136 152287136 + Silent SNP G A A TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr1:152287136G>A uc001ezu.1 - 2 262 c.226C>T c.(226-228)Ctg>Ttg p.L76L AK056431_uc001ezv.3_Non-coding_Transcript NM_002016 NP_002007 P20930 FILA_HUMAN Homo sapiens filaggrin (FLG), mRNA. 76 EF-hand 2. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) AATACCATCAGAAGAAACTCA 0.393000 Ichthyosis 63 26 0 0 1 0 0 ERN2 10595 broad.mit.edu 37 16 23706524 23706524 + Silent SNP C T T TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr16:23706524C>T uc002dma.4 - 14 2110 c.1941G>A c.(1939-1941)caG>caA p.Q647Q ERN2_uc010bxp.3_Silent_p.Q595Q NM_033266 NP_150296 Q76MJ5 ERN2_HUMAN Homo sapiens endoplasmic reticulum to nucleus signaling 2 (ERN2), mRNA. 599 Protein kinase. apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent endoplasmic reticulum membrane|integral to membrane ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity large_intestine(2)|lung(2)|ovary(2) 6 GBM - Glioblastoma multiforme(48;0.0156) AACTCACCTCCTGCAAGGAGG 0.617000 60 43 0 0 1 0 0 CYFIP2 26999 broad.mit.edu 37 5 156786157 156786157 + Splice_Site SNP G A A TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr5:156786157G>A uc021ygm.1 + 24 2952 c.2814_splice c.e24+1 p.L938_splice CYFIP2_uc011ddn.2_Splice_Site_p.L913_splice|CYFIP2_uc011ddo.2_Splice_Site_p.L743_splice|CYFIP2_uc021ygn.1_Splice_Site_p.L938_splice|CYFIP2_uc021ygo.1_Splice_Site_p.L938_splice|CYFIP2_uc003lwt.3_Splice_Site_p.L842_splice|CYFIP2_uc011ddp.2_Splice_Site_p.L673_splice NM_001037333 NP_001032410 Q96F07 CYFP2_HUMAN Homo sapiens cytoplasmic FMR1 interacting protein 2 (CYFIP2), transcript variant 1, mRNA. 964 apoptosis|cell-cell adhesion cell junction|perinuclear region of cytoplasm|synapse|synaptosome protein binding breast(1)|endometrium(12)|kidney(2)|lung(23) 38 Renal(175;0.00212) Medulloblastoma(196;0.0306)|all_neural(177;0.0897) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) GAAGAGCTTGGTAAGGAAAGG 0.458000 6 56 0 0 1 0 0 PRDM4 11108 broad.mit.edu 37 12 108150664 108150664 + Silent SNP T G G TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr12:108150664T>G uc001tmp.3 - 2 527 c.90A>C c.(88-90)tcA>tcC p.S30S PRDM4_uc001tmq.3_Non-coding_Transcript NM_012406 NP_036538 Q9UKN5 PRDM4_HUMAN Homo sapiens PR domain containing 4 (PRDM4), mRNA. 30 cell proliferation|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nucleus DNA binding|zinc ion binding biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)|skin(2)|urinary_tract(1) 20 GGTGACTTCCTGAGACTGGCA 0.517000 28 14 0 0 1 0 0 FAM193A 8603 broad.mit.edu 37 4 2696694 2696694 + Silent SNP C T T TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr4:2696694C>T uc010ick.3 + 15 2842 c.2841C>T c.(2839-2841)caC>caT p.H947H FAM193A_uc003gfd.3_Silent_p.H747H|FAM193A_uc011bvm.2_Silent_p.H769H|FAM193A_uc011bvn.2_Silent_p.H747H|FAM193A_uc010icl.3_Silent_p.H747H|FAM193A_uc011bvo.2_Non-coding_Transcript|FAM193A_uc010icm.3_Non-coding_Transcript|FAM193A_uc003gfe.2_Silent_p.H601H NM_003704 NP_003695 P78312 F193A_HUMAN Homo sapiens family with sequence similarity 193, member A (FAM193A), mRNA. 747 NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3) 40 GCGAAGGGCACCGCTGCGAGA 0.587000 20 22 0 0 1 0 0 GPR125 166647 broad.mit.edu 37 4 22456510 22456511 + Missense_Mutation DNP CC TT TT TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr4:22456510_22456511CC>TT uc003gqm.1 - 3 716_717 c.451_452GG>AA c.(451-453)gga>AAa p.G151K GPR125_uc010ieo.1_Missense_Mutation_p.G25K|GPR125_uc003gqo.3_Missense_Mutation_p.G151K NM_145290 NP_660333 Q8IWK6 GP125_HUMAN Homo sapiens G protein-coupled receptor 125 (GPR125), mRNA. 151 neuropeptide signaling pathway integral to membrane G-protein coupled receptor activity breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1) 56 Breast(46;0.198) ATTGGTGAGTCCTCGAAATATG 0.366000 48 33 0 0 1 0 0 NAP1L4 4676 broad.mit.edu 37 11 2981038 2981038 + Silent SNP G A A TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr11:2981038G>A uc010qxm.2 - 9 992 c.708C>T c.(706-708)ccC>ccT p.P236P NAP1L4_uc001lxc.3_Silent_p.P236P|NAP1L4_uc010qxn.2_Silent_p.P236P NM_005969 NP_005960 Q99733 NP1L4_HUMAN Homo sapiens nucleosome assembly protein 1-like 4 (NAP1L4), mRNA. 236 nucleosome assembly chromatin assembly complex|cytoplasm unfolded protein binding p.D235Y(1) endometrium(2)|kidney(3)|large_intestine(1)|lung(6)|ovary(1) 13 all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681) BRCA - Breast invasive adenocarcinoma(625;0.00301)|LUSC - Lung squamous cell carcinoma(625;0.211) CAAAGGAAAAGGGATCAGCCT 0.373000 36 21 0 0 1 0 0 SYT10 341359 broad.mit.edu 37 12 33559744 33559744 + Missense_Mutation SNP C T T TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr12:33559744C>T uc001rll.1 - 2 1354 c.1057G>A c.(1057-1059)Gat>Aat p.D353N SYT10_uc009zju.1_Missense_Mutation_p.D163N NM_198992 NP_945343 Q6XYQ8 SYT10_HUMAN Homo sapiens synaptotagmin X (SYT10), mRNA. 353 cell junction|integral to membrane|synaptic vesicle membrane metal ion binding|transporter activity NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1) 42 Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334) CAGTGAATATCTTTCCATACT 0.343000 26 24 0 0 1 0 0 ANGPT1 284 broad.mit.edu 37 8 108296969 108296969 + Silent SNP C T T rs150101500 byFrequency TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr8:108296969C>T uc003ymn.3 - 6 1614 c.1146G>A c.(1144-1146)ggG>ggA p.G382G ANGPT1_uc011lhv.2_Silent_p.G182G|ANGPT1_uc003ymo.3_Silent_p.G381G|ANGPT1_uc003ymp.4_Silent_p.G181G NM_001146 NP_001137 Q15389 ANGP1_HUMAN Homo sapiens angiopoietin 1 (ANGPT1), transcript variant 1, mRNA. 382 Fibrinogen C-terminal. Tie receptor signaling pathway|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|blood coagulation|cell differentiation|heparin biosynthetic process|leukocyte migration|negative regulation of cell adhesion|negative regulation of endothelial cell apoptosis|negative regulation of vascular permeability|positive chemotaxis|positive regulation of ERK1 and ERK2 cascade|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|positive regulation of receptor internalization|protein localization at cell surface|regulation of satellite cell proliferation|sprouting angiogenesis extracellular space|membrane raft|microvillus|plasma membrane receptor tyrosine kinase binding NS(1)|breast(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(13)|ovary(4)|prostate(1)|skin(7)|upper_aerodigestive_tract(1) 43 Breast(1;5.06e-08) OV - Ovarian serous cystadenocarcinoma(57;5.53e-09) AGGCTCGGTTCCCTTCCCAGT 0.418000 45 35 0 0 1 0 0 TFEB 7942 broad.mit.edu 37 6 41652554 41652554 + Missense_Mutation SNP C T T TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr6:41652554C>T uc021yzl.1 - 7 1416 c.1415G>A c.(1414-1416)aGg>aAg p.R472K TFEB_uc003oqs.1_Missense_Mutation_p.R405K|TFEB_uc003oqt.1_Missense_Mutation_p.R405K|TFEB_uc003oqu.1_Missense_Mutation_p.R405K|TFEB_uc003oqr.1_Missense_Mutation_p.R320K NM_007162 NP_009093 P19484 TFEB_HUMAN Homo sapiens transcription factor EB (TFEB), transcript variant 1, mRNA. 405 EPLAPGHGSPFPSLSKKDLDLMLLDDSLLPLASDPLLSTMS PEASKASSRRSSFSMEEGDVL -> DRN (in Ref. 1). embryonic placenta development|humoral immune response|positive regulation of transcription from RNA polymerase II promoter cytoplasm sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1) 11 Ovarian(28;0.0355)|Colorectal(47;0.121) Epithelial(12;7.61e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00507) CTCGTCCTCCCTGCCCCCAAA 0.687000 T ALPHA renal (childhood epithelioid) 53 53 0 0 1 0 0 EMR1 2015 broad.mit.edu 37 19 6937404 6937404 + Silent SNP C T T TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr19:6937404C>T uc002mfw.3 + 18 2570 c.2532C>T c.(2530-2532)caC>caT p.H844H EMR1_uc010dvc.3_Silent_p.H779H|EMR1_uc010dvb.3_Silent_p.H825H|EMR1_uc010xji.2_Silent_p.H703H|EMR1_uc010xjj.2_Silent_p.H667H NM_001974 NP_001965 Q14246 EMR1_HUMAN Homo sapiens egf-like module containing, mucin-like, hormone receptor-like 1 (EMR1), transcript variant 1, mRNA. 844 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) TCCTCATCCACTGTCTGCTCA 0.607000 75 64 0 0 1 0 0 KIAA1217 56243 broad.mit.edu 37 10 24832931 24832931 + Missense_Mutation SNP C T T TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr10:24832931C>T uc001iru.4 + 18 5135 c.4732C>T c.(4732-4734)Cct>Tct p.P1578S KIAA1217_uc001irs.3_Intron|KIAA1217_uc001irt.4_Intron|KIAA1217_uc010qcy.2_Intron|KIAA1217_uc010qcz.2_Intron|KIAA1217_uc001irw.3_Intron|KIAA1217_uc001irz.3_Intron|KIAA1217_uc001irx.3_Missense_Mutation_p.P1261S|KIAA1217_uc001iry.3_Intron|KIAA1217_uc001isa.1_Missense_Mutation_p.P414S NM_019590 NP_062536 Q5T5P2 SKT_HUMAN Homo sapiens KIAA1217 (KIAA1217), transcript variant 1, mRNA. 1578 embryonic skeletal system development cytoplasm breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1) 70 ATTCAAATTCCCTAAGAAGCA 0.468000 126 109 0 0 1 0 0 CDH20 28316 broad.mit.edu 37 18 59212317 59212317 + Missense_Mutation SNP T A A TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr18:59212317T>A uc010dps.1 + 8 1740 c.1588T>A c.(1588-1590)Tac>Aac p.Y530N CDH20_uc002lif.2_Missense_Mutation_p.Y524N NM_031891 NP_114097 Q9HBT6 CAD20_HUMAN Homo sapiens cadherin 20, type 2 (CDH20), mRNA. 530 Cadherin 5. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3) 61 Colorectal(73;0.186) TCAGCATTTCTACTACAGCTT 0.502000 57 35 0 0 1 0 0 PENK 5179 broad.mit.edu 37 8 57353920 57353920 + Missense_Mutation SNP C T T TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr8:57353920C>T uc003xsz.2 - 1 796 c.715G>A c.(715-717)Gag>Aag p.E239K PENK_uc003xta.3_Missense_Mutation_p.E239K NM_006211 NP_006202 P01210 PENK_HUMAN Homo sapiens proenkephalin (PENK), transcript variant 2, mRNA. 239 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) GGCAGAGCCTCGGCAAAGCGC 0.483000 95 86 0 0 1 0 0 PTPN11 5781 broad.mit.edu 37 12 112926910 112926910 + Missense_Mutation SNP G T T TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr12:112926910G>T uc001ttx.3 + 12 1910 c.1530G>T c.(1528-1530)caG>caT p.Q510H NM_002834 NP_002825 Q06124 PTN11_HUMAN Homo sapiens protein tyrosine phosphatase, non-receptor type 11 (PTPN11), mRNA. 514 Tyrosine-protein phosphatase. Q -> P (in LEOPARD1).|Q -> R (in NS1). T cell costimulation|axon guidance|cell junction assembly|ephrin receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|platelet activation|regulation of cell adhesion mediated by integrin|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway cytosol non-membrane spanning protein tyrosine phosphatase activity|protein binding p.Q510K(2)|p.Q510H(1)|p.Q510L(1) NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(406)|kidney(2)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(3)|stomach(3) 451 CAGAAGCACAGTACCGATTTA 0.493000 Mis """JMML, AML, MDS""" Noonan Syndrome Noonan syndrome 13 297 6.61739e-134 6.7662e-134 1 1 0 SALL4 57167 broad.mit.edu 37 20 50408716 50408716 + Silent SNP G A A TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr20:50408716G>A uc002xwh.4 - 1 407 c.306C>T c.(304-306)atC>atT p.I102I SALL4_uc010gii.3_Silent_p.I102I|SALL4_uc002xwi.4_Intron NM_020436 NP_065169 Q9UJQ4 SALL4_HUMAN Homo sapiens sal-like 4 (Drosophila) (SALL4), mRNA. 102 transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.L101L(1) endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 TGTCATTCATGATGAGGACAG 0.522000 85 99 0 0 1 0 0 CD33 945 broad.mit.edu 37 19 51728627 51728627 + Missense_Mutation SNP G A A TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr19:51728627G>A uc002pwa.2 + 1 231 c.191G>A c.(190-192)gGa>gAa p.G64E CD33_uc010eos.1_Missense_Mutation_p.G64E|CD33_uc010eot.1_Intron|CD33_uc010eou.1_5'Flank NM_001772 NP_001763 P20138 CD33_HUMAN Homo sapiens CD33 molecule (CD33), transcript variant 1, mRNA. 64 Ig-like V-type. cell adhesion|cell-cell signaling|negative regulation of cell proliferation external side of plasma membrane|integral to plasma membrane receptor activity|sugar binding p.E63K(1) NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(15)|skin(1)|stomach(1) 24 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.000224)|OV - Ovarian serous cystadenocarcinoma(262;0.00468) Gemtuzumab ozogamicin(DB00056) TTCCGGGAAGGAGCCATTATA 0.537000 90 86 0 0 1 0 0 ZNF608 57507 broad.mit.edu 37 5 123979242 123979243 + Nonsense_Mutation DNP GG AA AA TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr5:123979242_123979243GG>AA uc003ktq.1 - 5 4440_4441 c.4257_4258CC>TT c.(4255-4260)ctccag>ctTTag p.Q1420* ZNF608_uc003ktr.1_Non-coding_Transcript|ZNF608_uc003ktp.1_Nonsense_Mutation_p.Q115* NM_020747 NP_065798 Q9ULD9 ZN608_HUMAN Homo sapiens zinc finger protein 608 (ZNF608), mRNA. 1420 intracellular zinc ion binding breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1) 46 all_cancers(142;0.186)|Prostate(80;0.081) KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221) OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783) GCATGCTGCTGGAGCAAATCCA 0.446000 1 30 0 0 1 0 0 NALCN 259232 broad.mit.edu 37 13 101890181 101890181 + Silent SNP G A A TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr13:101890181G>A uc001vox.1 - 11 1548 c.1359C>T c.(1357-1359)ttC>ttT p.F453F NALCN_uc001voy.3_Silent_p.F168F|NALCN_uc001voz.2_Silent_p.F453F|NALCN_uc001vpa.2_Silent_p.F453F NM_052867 NP_443099 Q8IZF0 NALCN_HUMAN Homo sapiens sodium leak channel, non-selective (NALCN), mRNA. 453 integral to membrane sodium channel activity|voltage-gated ion channel activity p.F453F(2) NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 177 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) GTAGTAGTTCGAATTTGTGGA 0.348000 70 60 0 0 1 0 0 USH2A 7399 broad.mit.edu 37 1 216074106 216074106 + Missense_Mutation SNP C T T rs140341466 TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr1:216074106C>T uc001hku.1 - 38 7829 c.7442G>A c.(7441-7443)gGa>gAa p.G2481E NM_206933 NP_996816 O75445 USH2A_HUMAN Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA. 2481 Fibronectin type-III 11. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding p.G2481*(1) NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) CTCTAGAAATCCATGGGTGGA 0.443000 HNSCC(13;0.011) 60 64 0 0 1 0 0 MCTP2 55784 broad.mit.edu 37 15 94899508 94899508 + Missense_Mutation SNP G A A TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr15:94899508G>A uc002btj.3 + 7 1213 c.1148G>A c.(1147-1149)gGa>gAa p.G383E MCTP2_uc010urg.1_Missense_Mutation_p.G383E|MCTP2_uc002bti.2_Missense_Mutation_p.G383E|MCTP2_uc010boj.3_Missense_Mutation_p.G112E|MCTP2_uc010bok.3_Missense_Mutation_p.G383E|MCTP2_uc002btk.4_5'UTR|MCTP2_uc002btl.3_5'UTR NM_018349 NP_060819 Q6DN12 MCTP2_HUMAN Homo sapiens multiple C2 domains, transmembrane 2 (MCTP2), transcript variant 1, mRNA. 383 C2 2. calcium-mediated signaling integral to membrane|membrane fraction calcium ion binding autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2) 49 Lung NSC(78;0.0821)|all_lung(78;0.148) BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593) TTAAAACTGGGAGATCAGAGG 0.333000 31 32 0 0 1 0 0 TMEM200A 114801 broad.mit.edu 37 6 130762664 130762664 + Missense_Mutation SNP G A A TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr6:130762664G>A uc003qcb.3 + 1 3475 c.1097G>A c.(1096-1098)gGa>gAa p.G366E TMEM200A_uc003qca.3_Missense_Mutation_p.G366E|TMEM200A_uc010kfh.3_Missense_Mutation_p.G366E|TMEM200A_uc010kfi.3_Missense_Mutation_p.G366E|TMEM200A_uc021zfg.1_Missense_Mutation_p.G366E NM_052913 NP_443145 Q86VY9 T200A_HUMAN Homo sapiens transmembrane protein 200A (TMEM200A), mRNA. 366 integral to membrane NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 52 GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12) ATGGCTCTCGGACCTGGGGCT 0.522000 49 45 0 0 1 0 0 COL1A1 1277 broad.mit.edu 37 17 48266759 48266759 + Silent SNP G A A TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr17:48266759G>A uc002iqm.3 - 38 2934 c.2808C>T c.(2806-2808)tcC>tcT p.S936S NM_000088 NP_000079 P02452 CO1A1_HUMAN Homo sapiens collagen, type I, alpha 1 (COL1A1), mRNA. 936 Triple-helical region. axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception collagen type I|extracellular space|plasma membrane identical protein binding|platelet-derived growth factor binding COL1A1/PDGFB(429) NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 71 Collagenase(DB00048)|Palifermin(DB00039) CAGCACCAGGGGATCCTTTCT 0.642000 T """PDGFB, USP6""" """dermatofibrosarcoma protuberans, aneurysmal bone cyst """ Osteogenesis imperfecta 72 72 0 0 1 0 0 PLIN4 729359 broad.mit.edu 37 19 4512428 4512428 + Missense_Mutation SNP C T T TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr19:4512428C>T uc002mar.1 - 2 1502 c.1502G>A c.(1501-1503)gGg>gAg p.G501E PLIN4_uc010dub.1_5'Flank NM_001080400 NP_001073869 Q96Q06 PLIN4_HUMAN Homo sapiens perilipin 4 (PLIN4), mRNA. 501 27 X 33 AA approximate tandem repeat. lipid particle|plasma membrane NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2) 41 CTGGACGGTCCCTTTGGCCAC 0.617000 136 131 0 0 1 0 0 NPFFR2 10886 broad.mit.edu 37 4 73013133 73013133 + Silent SNP C T T TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr4:73013133C>T uc003hgg.2 + 3 1271 c.1173C>T c.(1171-1173)ccC>ccT p.P391P NPFFR2_uc010iig.2_Silent_p.P173P|NPFFR2_uc003hgi.2_Silent_p.P292P|NPFFR2_uc003hgh.2_Silent_p.P289P NM_004885 NP_444264 Q9Y5X5 NPFF2_HUMAN Homo sapiens neuropeptide FF receptor 2 (NPFFR2), transcript variant 1, mRNA. 391 detection of abiotic stimulus actin cytoskeleton|integral to plasma membrane neuropeptide receptor activity NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(24)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 43 Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138) CATGGCTGCCCCTGTGGACTC 0.488000 58 55 0 0 1 0 0 DENND2A 27147 broad.mit.edu 37 7 140301989 140301990 + Missense_Mutation DNP CC TT TT TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr7:140301989_140301990CC>TT uc010lnk.3 - 2 728_729 c.208_209GG>AA c.(208-210)gga>AAa p.G70K DENND2A_uc011kre.2_Non-coding_Transcript|DENND2A_uc010lnj.3_Missense_Mutation_p.G70K|DENND2A_uc003vvw.3_Missense_Mutation_p.G70K|DENND2A_uc003vvx.3_Missense_Mutation_p.G70K NM_015689 NP_056504 Q9ULE3 DEN2A_HUMAN Homo sapiens DENN/MADD domain containing 2A (DENND2A), mRNA. 70 p.G70R(2) breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 Melanoma(164;0.00956) ATCCTCCTGTCCGTCTGCTCTC 0.545000 98 106 0 0 1 0 0 AKAP6 9472 broad.mit.edu 37 14 33014437 33014437 + Splice_Site SNP G A A TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr14:33014437G>A uc001wrq.3 + 4 747 c.577_splice c.e4-1 p.G193_splice AKAP6_uc010aml.3_Splice_Site_p.G190_splice NM_004274 NP_004265 Q13023 AKAP6_HUMAN Homo sapiens A kinase (PRKA) anchor protein 6 (AKAP6), mRNA. 193 protein targeting calcium channel complex|nuclear membrane|sarcoplasmic reticulum protein kinase A binding|receptor binding NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2) 122 Breast(36;0.0388)|Prostate(35;0.15) LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116) GBM - Glioblastoma multiforme(265;0.019) CTGTTTCAGGGCCGGCTTGAT 0.393000 49 34 0 0 1 0 0 PTPRD 5789 broad.mit.edu 37 9 8485926 8485926 + Missense_Mutation SNP G A A TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr9:8485926G>A uc003zkk.3 - 27 3634 c.2891C>T c.(2890-2892)cCc>cTc p.P964L PTPRD_uc003zkp.3_Intron|PTPRD_uc003zkq.3_Intron|PTPRD_uc003zkr.3_Intron|PTPRD_uc003zks.3_Intron|PTPRD_uc022bdj.1_Intron NM_002839 NP_002830 P23468 PTPRD_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, D (PTPRD), transcript variant 1, mRNA. 964 Fibronectin type-III 7. transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 168 all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824) all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119) CGGGAGAAGGGGGATGTTGAT 0.458000 TSP Lung(15;0.13) 8 62 0 0 1 0 0 DENND2A 27147 broad.mit.edu 37 7 140221877 140221877 + Missense_Mutation SNP C T T TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr7:140221877C>T uc010lnk.3 - 17 3209 c.2689G>A c.(2689-2691)Gag>Aag p.E897K DENND2A_uc011kre.2_Non-coding_Transcript|DENND2A_uc010lnj.3_Missense_Mutation_p.E897K|DENND2A_uc003vvw.3_Missense_Mutation_p.E897K NM_015689 NP_056504 Q9ULE3 DEN2A_HUMAN Homo sapiens DENN/MADD domain containing 2A (DENND2A), mRNA. 897 dDENN. breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 Melanoma(164;0.00956) GACACCACCTCGTTCAAGGGG 0.587000 41 35 0 0 1 0 0 ZSWIM2 151112 broad.mit.edu 37 2 187712480 187712480 + Missense_Mutation SNP G A A TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr2:187712480G>A uc002upu.1 - 1 248 c.208C>T c.(208-210)Ccg>Tcg p.P70S NM_182521 NP_872327 Q8NEG5 ZSWM2_HUMAN Homo sapiens zinc finger, SWIM-type containing 2 (ZSWIM2), mRNA. 70 apoptosis zinc ion binding p.P70Q(1) cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1) 52 OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164) CCTCCTTTCGGAAATGTGGAA 0.348000 24 24 0 0 1 0 0 NUDT7 283927 broad.mit.edu 37 16 77759444 77759444 + Missense_Mutation SNP G A A TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr16:77759444G>A uc010chd.3 + 1 243 c.152G>A c.(151-153)gGa>gAa p.G51E NUDT7_uc002fff.3_Missense_Mutation_p.G51E|NUDT7_uc021tlp.1_Missense_Mutation_p.G51E|NUDT7_uc021tlq.1_Missense_Mutation_p.G51E|NUDT7_uc010vnj.2_Missense_Mutation_p.G51E NM_001105663 NP_001099133 P0C024 NUDT7_HUMAN Homo sapiens nudix (nucleoside diphosphate linked moiety X)-type motif 7 (NUDT7), transcript variant 1, mRNA. 51 Nudix hydrolase. nucleoside diphosphate metabolic process peroxisome hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides|magnesium ion binding|manganese ion binding breast(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|skin(1) 18 GCTAAAGAAGGAAAACTCCAT 0.428000 20 22 0 0 1 0 0 WNT9B 7484 broad.mit.edu 37 17 44954055 44954055 + Missense_Mutation SNP G A A TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr17:44954055G>A uc002ikw.1 + 3 1082 c.1045G>A c.(1045-1047)Gag>Aag p.E349K WNT9B_uc002ikx.1_Intron NM_003396 NP_003387 O14905 WNT9B_HUMAN Homo sapiens wingless-type MMTV integration site family, member 9B (WNT9B), mRNA. 349 Wnt receptor signaling pathway, calcium modulating pathway|Wnt receptor signaling pathway, planar cell polarity pathway|anterior/posterior pattern formation|axis specification|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|collecting duct development|cornea development in camera-type eye|endoderm development|establishment of planar polarity involved in nephron morphogenesis|kidney rudiment formation|male genitalia development|mesonephric duct formation|metanephric tubule development|neuron differentiation|palate development|regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|uterus morphogenesis extracellular space|plasma membrane|proteinaceous extracellular matrix G-protein-coupled receptor binding|extracellular matrix structural constituent large_intestine(2)|lung(8) 10 BRCA - Breast invasive adenocarcinoma(9;0.0257) ATGTGTGCAGGAGGAGCTTGT 0.647000 41 24 0 0 1 0 0 CCDC96 257236 broad.mit.edu 37 4 7044548 7044548 + Missense_Mutation SNP G A A TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr4:7044548G>A uc003gjv.2 - 0 181 c.118C>T c.(118-120)Ccc>Tcc p.P40S LOC100129931_uc021xld.1_Intron|TADA2B_uc003gjw.4_5'Flank|TADA2B_uc010idi.3_5'Flank NM_153376 NP_699207 Q2M329 CCD96_HUMAN Homo sapiens coiled-coil domain containing 96 (CCDC96), mRNA. 40 Glu-rich. endometrium(3)|kidney(1)|large_intestine(3)|lung(2)|skin(1)|urinary_tract(1) 11 AGCTCCCCGGGTTCGGGAGAG 0.721000 9 6 0 0 1 0 0 C10orf71 118461 broad.mit.edu 37 10 50531479 50531480 + Missense_Mutation DNP GT AA AA TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr10:50531479_50531480GT>AA uc021pqb.1 + 0 889_890 c.889_890GT>AA c.(889-891)gtc>AAc p.V297N C10orf71_uc021pqa.1_Missense_Mutation_p.V296N|C10orf71_uc021pqc.1_Missense_Mutation_p.V297N NM_001135196 NP_001128668 Q711Q0 CJ071_HUMAN Homo sapiens chromosome 10 open reading frame 71 (C10orf71), transcript variant 1, mRNA. 297 endometrium(1) 1 AGCTGGAACCGTCCCAGAAAGC 0.545000 47 27 0 0 1 0 0 OR9Q2 219957 broad.mit.edu 37 11 57958364 57958364 + Silent SNP C T T TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr11:57958364C>T uc010rka.2 + 0 459 c.402C>T c.(400-402)acC>acT p.T134T NM_001005283 NP_001005283 Q8NGE9 OR9Q2_HUMAN Homo sapiens olfactory receptor, family 9, subfamily Q, member 2 (OR9Q2), mRNA. 134 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|central_nervous_system(2)|endometrium(1)|large_intestine(3)|lung(24)|ovary(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 41 Breast(21;0.0589) TTTATGTCACCATCATAACCG 0.552000 84 93 0 0 1 0 0 MECOM 2122 broad.mit.edu 37 3 168833453 168833453 + Missense_Mutation SNP C T T TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr3:168833453C>T uc011bpj.1 - 7 2610 c.2207G>A c.(2206-2208)gGc>gAc p.G736D MECOM_uc010hwk.1_Missense_Mutation_p.G571D|MECOM_uc003ffj.3_Missense_Mutation_p.G613D|MECOM_uc003ffi.3_Missense_Mutation_p.G548D|MECOM_uc011bpi.1_Missense_Mutation_p.G549D|MECOM_uc003ffn.3_Missense_Mutation_p.G548D|MECOM_uc003ffk.2_Missense_Mutation_p.G548D|MECOM_uc003ffl.2_Missense_Mutation_p.G708D|MECOM_uc011bpk.1_Missense_Mutation_p.G548D|MECOM_uc010hwn.2_Missense_Mutation_p.G736D NM_004991 NP_004982 Q13465 MDS1_HUMAN Homo sapiens MDS1 and EVI1 complex locus (MECOM), transcript variant 4, mRNA. 58 sequence-specific DNA binding transcription factor activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4) 85 CTCAGAGCTGCCCTTCTGCAG 0.488000 72 63 0 0 1 0 0 KIAA1324L 222223 broad.mit.edu 37 7 86539146 86539146 + Silent SNP G A A TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr7:86539146G>A uc011kha.2 - 15 2526 c.2341C>T c.(2341-2343)Ctg>Ttg p.L781L KIAA1324L_uc003uie.3_Silent_p.L614L|KIAA1324L_uc011kgz.2_Silent_p.L667L|KIAA1324L_uc003uif.2_Silent_p.L533L NM_001142749 NP_001136221 A8MWY0 K132L_HUMAN Homo sapiens KIAA1324-like (KIAA1324L), transcript variant 1, mRNA. 781 integral to membrane breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 44 Esophageal squamous(14;0.0058) GTATCTGCCAGAATGATGGAT 0.353000 62 49 0 0 1 0 0 OR6C2 341416 broad.mit.edu 37 12 55846582 55846582 + Silent SNP G A A TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr12:55846582G>A uc001sgz.1 + 0 585 c.585G>A c.(583-585)caG>caA p.Q195Q NM_054105 NP_473446 Q9NZP2 OR6C2_HUMAN Homo sapiens olfactory receptor, family 6, subfamily C, member 2 (OR6C2), mRNA. 195 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(2)|large_intestine(5)|lung(8)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 23 TAATAGAACAGATGGTTATAC 0.408000 77 75 0 0 1 0 0 C1orf168 199920 broad.mit.edu 37 1 57202788 57202788 + Missense_Mutation SNP C T T TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr1:57202788C>T uc001cym.4 - 14 2171 c.1765G>A c.(1765-1767)Gat>Aat p.D589N C1orf168_uc009vzu.1_Non-coding_Transcript|C1orf168_uc001cyl.3_Non-coding_Transcript NM_001004303 NP_001004303 Q5VWT5 CA168_HUMAN Homo sapiens chromosome 1 open reading frame 168 (C1orf168), mRNA. 589 NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2) 46 AGGTCTACATCATCATAAATA 0.333000 15 13 0 0 1 0 0 C16orf78 123970 broad.mit.edu 37 16 49412388 49412388 + Missense_Mutation SNP G A A TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr16:49412388G>A uc002efr.3 + 2 321 c.278G>A c.(277-279)gGa>gAa p.G93E NM_144602 NP_653203 Q8WTQ4 CP078_HUMAN Homo sapiens chromosome 16 open reading frame 78 (C16orf78), mRNA. 93 breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(1) 22 AAGGCCTTAGGAAAGAGATTC 0.557000 9 11 0 0 1 0 0 TRUB1 142940 broad.mit.edu 37 10 116698242 116698242 + Missense_Mutation SNP C T T TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr10:116698242C>T uc001lcd.3 + 0 291 c.230C>T c.(229-231)cCc>cTc p.P77L TRUB1_uc010qsl.2_Intron NM_139169 NP_631908 Q8WWH5 TRUB1_HUMAN Homo sapiens TruB pseudouridine (psi) synthase homolog 1 (E. coli) (TRUB1), mRNA. 77 pseudouridine synthesis|tRNA processing RNA binding|pseudouridine synthase activity breast(2)|kidney(2)|large_intestine(1)|lung(5)|urinary_tract(2) 12 Colorectal(252;0.09)|Breast(234;0.174)|Lung NSC(174;0.245) Epithelial(162;0.00879)|all cancers(201;0.0243) GTGCACAAGCCCAAAGGGCCC 0.662000 8 8 0 0 1 0 0 DYSF 8291 broad.mit.edu 37 2 71753454 71753455 + Missense_Mutation DNP CC TT TT TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr2:71753454_71753455CC>TT uc010fen.3 + 12 1395_1396 c.1254_1255CC>TT c.(1252-1257)ttccgg>ttTTgg p.R419W DYSF_uc010fei.3_Missense_Mutation_p.R418W|DYSF_uc010feh.3_Missense_Mutation_p.R387W|DYSF_uc002sig.4_Missense_Mutation_p.R387W|DYSF_uc010yqx.2_Non-coding_Transcript|DYSF_uc010feg.3_Missense_Mutation_p.R418W|DYSF_uc010fee.3_Missense_Mutation_p.R387W|DYSF_uc010fef.3_Missense_Mutation_p.R418W|DYSF_uc002sie.3_Missense_Mutation_p.R387W|DYSF_uc010feo.3_Missense_Mutation_p.R419W|DYSF_uc010fej.3_Missense_Mutation_p.R388W|DYSF_uc010fel.3_Missense_Mutation_p.R388W|DYSF_uc010fem.3_Missense_Mutation_p.R388W|DYSF_uc002sif.3_Missense_Mutation_p.R388W|DYSF_uc010fek.3_Missense_Mutation_p.R419W NM_001130987 NP_001124459 O75923 DYSF_HUMAN Homo sapiens dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) (DYSF), transcript variant 1, mRNA. 387 C2 3. cytoplasmic vesicle membrane|integral to membrane|sarcolemma calcium-dependent phospholipid binding autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2) 111 TGAAGGTCTTCCGGGCCGAGGA 0.668000 156 104 0 0 1 0 0 SLC9A5 6553 broad.mit.edu 37 16 67304817 67304817 + Nonsense_Mutation SNP G T T TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr16:67304817G>T uc002esm.3 + 15 2458 c.2395G>T c.(2395-2397)Gag>Tag p.E799* SLC9A5_uc010cee.3_Nonsense_Mutation_p.E504*|SLC9A5_uc010vji.2_Nonsense_Mutation_p.E303* NM_004594 NP_004585 Q14940 SL9A5_HUMAN Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 5 (SLC9A5), mRNA. 799 regulation of pH integral to membrane|plasma membrane sodium:hydrogen antiporter activity breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1) 27 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116) CTCATCCCTGGAGAGCCTAGC 0.622000 98 82 1.17954e-47 1.20447e-47 1 1 0 HEPHL1 341208 broad.mit.edu 37 11 93834405 93834405 + Missense_Mutation SNP T A A TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr11:93834405T>A uc001pep.2 + 13 2636 c.2479T>A c.(2479-2481)Ttt>Att p.F827I AF086184_uc001pen.1_Intron NM_001098672 NP_001092142 Q6MZM0 HPHL1_HUMAN Homo sapiens hephaestin-like 1 (HEPHL1), mRNA. 827 Plastocyanin-like 5. copper ion transport integral to membrane copper ion binding|oxidoreductase activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 61 Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824) CCTGATCATATTTAAGAACAA 0.463000 72 65 0 0 1 0 0 NEK5 341676 broad.mit.edu 37 13 52676350 52676350 + Missense_Mutation SNP G A A TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr13:52676350G>A uc001vge.3 - 9 828 c.688C>T c.(688-690)Cgt>Tgt p.R230C NM_199289 NP_954983 Q6P3R8 NEK5_HUMAN Homo sapiens NIMA (never in mitosis gene a)-related kinase 5 (NEK5), mRNA. 230 Protein kinase. ATP binding|metal ion binding|protein serine/threonine kinase activity breast(5)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 39 Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236) GBM - Glioblastoma multiforme(99;3.7e-08) TGGAGCTCACGAGAAAACCCC 0.418000 167 112 0 0 1 0 0 NRK 203447 broad.mit.edu 37 X 105150502 105150502 + Missense_Mutation SNP G A A TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chrX:105150502G>A uc004emd.3 + 10 1244 c.941G>A c.(940-942)cGg>cAg p.R314Q NRK_uc010npc.1_5'UTR NM_198465 NP_940867 Q7Z2Y5 NRK_HUMAN Homo sapiens Nik related kinase (NRK), mRNA. 314 ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2) 76 CCATTTGTTCGGGATATAAAA 0.338000 HNSCC(51;0.14) 2 10 0 0 1 0 0 LIPA 3988 broad.mit.edu 37 10 90983476 90983476 + Missense_Mutation SNP G A A TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr10:90983476G>A uc001kgc.4 - 5 1083 c.793C>T c.(793-795)Ctt>Ttt p.L265F LIPA_uc001kgb.4_Missense_Mutation_p.L207F|LIPA_uc010qnf.2_Missense_Mutation_p.L68F|LIPA_uc001kga.4_Missense_Mutation_p.L263F|LIPA_uc009xtq.3_Missense_Mutation_p.L263F|LIPA_uc009xtr.1_Non-coding_Transcript NM_001127605 NP_001121077 P38571 LICH_HUMAN Homo sapiens lipase A, lysosomal acid, cholesterol esterase (LIPA), transcript variant 1, mRNA. 263 lipid catabolic process lysosome lipase activity|sterol esterase activity endometrium(1)|large_intestine(2)|lung(3) 6 Colorectal(252;0.0162) GBM - Glioblastoma multiforme(2;0.00406) CCACACAGAAGAAAACAGAGA 0.353000 52 48 0 0 1 0 0 CEACAM18 729767 broad.mit.edu 37 19 51986374 51986374 + Silent SNP C T T TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr19:51986374C>T uc002pwv.1 + 4 960 c.960C>T c.(958-960)tcC>tcT p.S320S NM_001080405 NP_001073874 A8MTB9 CEA18_HUMAN Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 18 (CEACAM18), mRNA. 320 Ig-like C2-type. integral to membrane breast(1)|endometrium(4)|large_intestine(3)|lung(8)|skin(1) 17 all_neural(266;0.0529) GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.00979) TCTGCTATTCCTTCCTGGATC 0.522000 130 130 0 0 1 0 0 MYO9A 4649 broad.mit.edu 37 15 72252254 72252254 + Missense_Mutation SNP G A A TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr15:72252254G>A uc002atl.4 - 13 2643 c.2170C>T c.(2170-2172)Cac>Tac p.H724Y MYO9A_uc010biq.3_Missense_Mutation_p.H319Y|MYO9A_uc002ato.3_Missense_Mutation_p.H724Y|MYO9A_uc002atn.1_Missense_Mutation_p.H705Y NM_006901 NP_008832 B2RTY4 MYO9A_HUMAN Homo sapiens myosin IXA (MYO9A), mRNA. 724 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception cytosol|integral to membrane|unconventional myosin complex ATP binding|GTPase activator activity|actin binding|metal ion binding|motor activity NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 88 GTTTTTCTGTGAATGTTTCTT 0.363000 17 13 0 0 1 0 0 PPP6R2 9701 broad.mit.edu 37 22 50857874 50857875 + Missense_Mutation DNP GG AA AA TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr22:50857874_50857875GG>AA uc003blb.2 + 8 1250_1251 c.828_829GG>AA c.(826-831)ctggaa>ctAAaa p.E277K PPP6R2_uc003blc.3_Missense_Mutation_p.E277K|PPP6R2_uc003bky.2_Missense_Mutation_p.E277K|PPP6R2_uc003bla.2_Missense_Mutation_p.E278K|PPP6R2_uc003bkz.2_Missense_Mutation_p.E277K NM_001242898 NP_001229827 O75170 PP6R2_HUMAN Homo sapiens protein phosphatase 6, regulatory subunit 2 (PPP6R2), transcript variant 1, mRNA. 277 cytoplasm|intracellular membrane-bounded organelle protein binding p.L276L(1) NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|skin(1)|urinary_tract(1) 22 TCACCTTGCTGGAAACCAGGCG 0.550000 7 26 0 0 1 0 0 COL19A1 1310 broad.mit.edu 37 6 70847595 70847595 + Missense_Mutation SNP G A A TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr6:70847595G>A uc003pfc.1 + 18 1519 c.1402G>A c.(1402-1404)Gga>Aga p.G468R COL19A1_uc010kam.2_Missense_Mutation_p.G364R NM_001858 NP_001849 Q14993 COJA1_HUMAN Homo sapiens collagen, type XIX, alpha 1 (COL19A1), mRNA. 468 Triple-helical region 3 (COL3). cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development collagen extracellular matrix structural constituent|protein binding, bridging breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2) 109 TGGACTACCAGGATTTCCAGG 0.393000 63 60 0 0 1 0 0 CACNA1H 8912 broad.mit.edu 37 16 1261797 1261797 + Missense_Mutation SNP G A A TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr16:1261797G>A uc002cks.3 + 23 4806 c.4558G>A c.(4558-4560)Gac>Aac p.D1520N CACNA1H_uc002ckt.3_Missense_Mutation_p.D1520N|CACNA1H_uc002cku.3_Missense_Mutation_p.D226N|CACNA1H_uc010brj.3_Missense_Mutation_p.D226N|CACNA1H_uc002ckv.3_Missense_Mutation_p.D226N NM_021098 NP_066921 O95180 CAC1H_HUMAN Homo sapiens calcium channel, voltage-dependent, T type, alpha 1H subunit (CACNA1H), transcript variant 1, mRNA. 1520 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) CGTGGGTGTCGACCAGCAGGT 0.667000 68 66 0 0 1 0 0 RGS7 6000 broad.mit.edu 37 1 240975259 240975259 + Silent SNP G A A rs114051974 by1000genomes TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr1:240975259G>A uc001hyt.2 - 6 591 c.537C>T c.(535-537)ttC>ttT p.F179F RGS7_uc010pyh.2_Silent_p.F321F|RGS7_uc010pyj.1_Silent_p.F263F|RGS7_uc001hyu.2_Silent_p.F347F|RGS7_uc009xgn.1_Silent_p.F294F|RGS7_uc001hyv.2_Silent_p.F347F|RGS7_uc001hyw.2_Silent_p.F347F NM_002924 NP_002915 P49802 RGS7_HUMAN Homo sapiens regulator of G-protein signaling 7 (RGS7), mRNA. 347 G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway cytoplasm|heterotrimeric G-protein complex GTPase activator activity|protein binding|signal transducer activity p.D178Y(2) breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 76 all_cancers(173;0.0131) OV - Ovarian serous cystadenocarcinoma(106;0.027) GAAATTTAAGGAACTGTTCTC 0.418000 76 36 0 0 1 0 0 SCARA5 286133 broad.mit.edu 37 8 27779539 27779539 + Silent SNP C T T TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr8:27779539C>T uc003xgj.3 - 3 1076 c.465G>A c.(463-465)ggG>ggA p.G155G SCARA5_uc010luz.3_Intron|SCARA5_uc003xgk.3_Silent_p.G112G|SCARA5_uc003xgl.3_Silent_p.G155G NM_173833 NP_776194 Q6ZMJ2 SCAR5_HUMAN Homo sapiens scavenger receptor class A, member 5 (putative) (SCARA5), mRNA. 155 cellular iron ion homeostasis|endocytosis|iron ion transmembrane transport|protein homotrimerization integral to plasma membrane ferritin receptor activity|scavenger receptor activity p.L156fs*40(1) central_nervous_system(1)|large_intestine(6)|lung(5)|prostate(3)|skin(3) 18 Ovarian(32;0.0218) UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)|Colorectal(74;0.228) GCGCCTGCAGCCCCCACAGCG 0.726000 7 12 0 0 1 0 0 MYH3 4621 broad.mit.edu 37 17 10547980 10547980 + Missense_Mutation SNP G A A TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr17:10547980G>A uc002gmq.2 - 12 1269 c.1181C>T c.(1180-1182)tCg>tTg p.S394L NM_002470 NP_002461 P11055 MYH3_HUMAN Homo sapiens myosin, heavy chain 3, skeletal muscle, embryonic (MYH3), mRNA. 394 Myosin head-like. muscle filament sliding|muscle organ development cytosol|myofibril|myosin filament ATP binding|actin binding|calmodulin binding|microfilament motor activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 83 TAGGAGGTCCGAAGAGTTCAG 0.458000 55 40 0 0 1 0 0 DNAH8 1769 broad.mit.edu 37 6 38913243 38913243 + Splice_Site SNP G A A TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr6:38913243G>A uc021yzh.1 + 80 12117 c.12008_splice c.e80-1 p.G4003_splice DNAH8_uc003ooe.2_Splice_Site_p.G3786_splice|DNAH8_uc003oog.1_Splice_Site_p.G235_splice|LOC100131047_uc003oof.2_Intron NM_001206927 NP_001193856 Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA. NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4) 260 TCTTCCCCAGGGGGAGCAGCT 0.458000 70 52 0 0 1 0 0 FAM49A 81553 broad.mit.edu 37 2 16746931 16746931 + Missense_Mutation SNP C T T TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr2:16746931C>T uc010exm.2 - 2 323 c.175G>A c.(175-177)Ggc>Agc p.G59S FAM49A_uc002rck.2_Missense_Mutation_p.G59S NM_030797 NP_110424 Q9H0Q0 FA49A_HUMAN Homo sapiens family with sequence similarity 49, member A (FAM49A), mRNA. 59 intracellular breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|skin(3)|upper_aerodigestive_tract(1) 23 Acute lymphoblastic leukemia(172;0.0734)|all_hematologic(175;0.088) GBM - Glioblastoma multiforme(3;0.00969) ATCTCTGGGCCTGCGCCTTTG 0.522000 68 40 0 0 1 0 0 DNAH12 201625 broad.mit.edu 37 3 57494115 57494115 + Missense_Mutation SNP C T T TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr3:57494115C>T uc003dit.2 - 6 876 c.695G>A c.(694-696)gGa>gAa p.G232E DNAH12_uc003diu.2_Missense_Mutation_p.G232E NM_178504 NP_848599 Q6ZR08 DYH12_HUMAN Homo sapiens dynein, axonemal, heavy chain 12 (DNAH12), transcript variant 1, mRNA. 232 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|prostate(1)|skin(1) 25 TTACCTAATTCCTGTGAAGTC 0.294000 29 22 0 0 1 0 0 SPTBN2 6712 broad.mit.edu 37 11 66468511 66468511 + Missense_Mutation SNP C T T TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr11:66468511C>T uc001ojd.3 - 15 3131 c.3059G>A c.(3058-3060)cGa>cAa p.R1020Q NM_006946 NP_008877 O15020 SPTN2_HUMAN Homo sapiens spectrin, beta, non-erythrocytic 2 (SPTBN2), mRNA. 1020 actin filament capping|axon guidance|cell death|vesicle-mediated transport cytosol|spectrin actin binding|structural constituent of cytoskeleton p.R1020*(1) autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 74 ATTTGCCTCTCGAGTCAGTTC 0.706000 61 54 0 0 1 0 0 ARHGEF10 9639 broad.mit.edu 37 8 1851497 1851497 + Silent SNP G A A TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr8:1851497G>A uc003wpr.3 + 15 1879 c.1701G>A c.(1699-1701)caG>caA p.Q567Q ARHGEF10_uc003wpq.1_Silent_p.Q591Q|ARHGEF10_uc003wps.3_Silent_p.Q529Q|ARHGEF10_uc003wpt.3_Silent_p.Q443Q|ARHGEF10_uc003wpv.3_Silent_p.Q300Q|ARHGEF10_uc010lre.3_Silent_p.Q247Q NM_014629 NP_055444 O15013 ARHGA_HUMAN Homo sapiens Rho guanine nucleotide exchange factor (GEF) 10 (ARHGEF10), mRNA. 592 DH. centrosome duplication|myelination in peripheral nervous system|positive regulation of GTP catabolic process|positive regulation of stress fiber assembly|regulation of Rho protein signal transduction|spindle assembly involved in mitosis centrosome|cytosol|soluble fraction Rho guanyl-nucleotide exchange factor activity|kinesin binding endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1) 35 Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834) COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718) TGCCTCTTCAGATGGCCCTGA 0.507000 126 108 0 0 1 0 0 CASQ1 844 broad.mit.edu 37 1 160160618 160160618 + Missense_Mutation SNP G A A TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr1:160160618G>A uc010pja.2 + 0 334 c.77G>A c.(76-78)gGg>gAg p.G26E NM_001231 NP_001222 P31415 CASQ1_HUMAN Homo sapiens calsequestrin 1 (fast-twitch, skeletal muscle) (CASQ1), nuclear gene encoding mitochondrial protein, mRNA. 26 mitochondrial matrix|sarcoplasmic reticulum lumen|smooth endoplasmic reticulum calcium ion binding breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(1) 21 all_cancers(52;2.56e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) CTGGTGCTAGGGACACCCAAG 0.577000 103 44 0 0 1 0 0 PEAR1 375033 broad.mit.edu 37 1 156877842 156877842 + Splice_Site SNP C T T TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr1:156877842C>T uc001fqj.1 + 8 1018 c.902_splice c.e8+1 p.R301_splice PEAR1_uc009wsl.1_Splice_Site_p.R102_splice|PEAR1_uc001fqk.1_5'UTR NM_001080471 NP_001073940 Q5VY43 PEAR1_HUMAN Homo sapiens platelet endothelial aggregation receptor 1 (PEAR1), mRNA. 301 EGF-like 3. integral to membrane breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(6)|lung(22)|ovary(4)|skin(3)|upper_aerodigestive_tract(1) 43 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) CACTGGGGATCGGTGAGTGGC 0.701000 23 8 0 0 1 0 0 EPX 8288 broad.mit.edu 37 17 56271403 56271403 + Missense_Mutation SNP C T T TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr17:56271403C>T uc002ivq.3 + 4 663 c.544C>T c.(544-546)Ccc>Tcc p.P182S NM_000502 NP_000493 P11678 PERE_HUMAN Homo sapiens eosinophil peroxidase (EPX), mRNA. 182 hydrogen peroxide catabolic process heme binding|peroxidase activity|protein binding breast(2)|endometrium(9)|kidney(1)|large_intestine(9)|liver(2)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 48 GCTGTCGCTCCCCTTCGGCTG 0.627000 45 27 0 0 1 0 0 MGAM 8972 broad.mit.edu 37 7 141747673 141747673 + Splice_Site SNP G A A TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr7:141747673G>A uc003vwy.3 + 22 2641 c.2587_splice c.e22+1 p.D863_splice NM_004668 NP_004659 O43451 MGA_HUMAN Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA. 863 Maltase. polysaccharide digestion|starch catabolic process apical plasma membrane|integral to membrane carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2) 13 Melanoma(164;0.0272) Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878) GGAAACGAAGGGTGAGCACTT 0.458000 17 9 0 0 1 0 0 NLRP3 114548 broad.mit.edu 37 1 247587615 247587615 + Silent SNP C T T TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr1:247587615C>T uc001icr.3 + 4 1008 c.870C>T c.(868-870)atC>atT p.I290I NLRP3_uc001ics.3_Silent_p.I290I|NLRP3_uc001icu.3_Silent_p.I290I|NLRP3_uc001icw.3_Silent_p.I290I|NLRP3_uc001icv.3_Silent_p.I290I|NLRP3_uc010pyw.2_Silent_p.I288I|NLRP3_uc001ict.1_Silent_p.I288I NM_001079821 NP_001230062 Q96P20 NALP3_HUMAN Homo sapiens NLR family, pyrin domain containing 3 (NLRP3), transcript variant 3, mRNA. 290 NACHT. detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction cytoplasm ATP binding|peptidoglycan binding|protein binding NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 142 all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.0172) OV - Ovarian serous cystadenocarcinoma(106;0.0141) TCCACAAGATCGTGAGAAAAC 0.562000 178 79 0 0 1 0 0 EFEMP2 30008 broad.mit.edu 37 11 65635830 65635830 + Missense_Mutation SNP G A A TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr11:65635830G>A uc001ofy.4 - 8 1169 c.910C>T c.(910-912)Cat>Tat p.H304Y EFEMP2_uc001ofz.3_Non-coding_Transcript NM_016938 NP_058634 O95967 FBLN4_HUMAN Homo sapiens EGF containing fibulin-like extracellular matrix protein 2 (EFEMP2), transcript variant 1, mRNA. 304 EGF-like 6; calcium-binding (Potential). blood coagulation basement membrane|membrane calcium ion binding|extracellular matrix structural constituent|protein binding|transmembrane receptor activity cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 21 READ - Rectum adenocarcinoma(159;0.169) TAGCCCCCATGGAAGTTGACA 0.602000 48 25 0 0 1 0 0 SELP 6403 broad.mit.edu 37 1 169576219 169576219 + Missense_Mutation SNP C T T TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr1:169576219C>T uc001ggi.4 - 8 1552 c.1487G>A c.(1486-1488)gGa>gAa p.G496E SELP_uc001ggh.3_Missense_Mutation_p.G331E|SELP_uc009wvr.3_Missense_Mutation_p.G496E NM_003005 NP_002996 P16109 LYAM3_HUMAN Homo sapiens selectin P (granule membrane protein 140kDa, antigen CD62) (SELP), mRNA. 496 Sushi 5. 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 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) ATTCCAGTTTCCAGTAGCCAA 0.453000 75 40 0 0 1 0 0 AMPD1 270 broad.mit.edu 37 1 115218614 115218614 + Missense_Mutation SNP G A A TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr1:115218614G>A uc001efe.2 - 10 1546 c.1498C>T c.(1498-1500)Cgt>Tgt p.R500C AMPD1_uc001eff.2_Missense_Mutation_p.R496C NM_000036 NP_000027 P23109 AMPD1_HUMAN Homo sapiens adenosine monophosphate deaminase 1 (AMPD1), transcript variant 1, mRNA. 467 purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage cytosol AMP deaminase activity|metal ion binding NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 45 all_epithelial(7;7.83e-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) Adenosine monophosphate(DB00131) TTCTTGGAACGGAACACATCA 0.428000 72 68 0 0 1 0 0 COL21A1 81578 broad.mit.edu 37 6 56044493 56044493 + Missense_Mutation SNP C T T TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr6:56044493C>T uc003pcs.3 - 2 755 c.523G>A c.(523-525)Gaa>Aaa p.E175K COL21A1_uc003pct.1_Non-coding_Transcript|COL21A1_uc011dxi.1_Missense_Mutation_p.E175K|COL21A1_uc003pcu.1_Missense_Mutation_p.E175K NM_030820 NP_110447 Q96P44 COLA1_HUMAN Homo sapiens collagen, type XXI, alpha 1 (COL21A1), mRNA. 175 VWFA. cell adhesion collagen|cytoplasm structural molecule activity breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2) 41 Lung NSC(77;0.0483) LUSC - Lung squamous cell carcinoma(124;0.181) TCGGCATCTTCTGTTTCTGAA 0.393000 25 17 0 0 1 0 0 APOB 338 broad.mit.edu 37 2 21234789 21234789 + Missense_Mutation SNP C T T TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr2:21234789C>T uc002red.3 - 25 5079 c.4951G>A c.(4951-4953)Gga>Aga p.G1651R NM_000384 NP_000375 P04114 APOB_HUMAN Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA. 1651 cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6) 305 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) GTAGATATTCCATCTTGGCCA 0.448000 42 29 0 0 1 0 0 LRRC16B 90668 broad.mit.edu 37 14 24528521 24528521 + Missense_Mutation SNP C T T TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr14:24528521C>T uc001wlj.2 + 20 1826 c.1669C>T c.(1669-1671)Cgc>Tgc p.R557C LRRC16B_uc001wlk.2_5'Flank NM_138360 NP_612369 Q8ND23 LR16B_HUMAN Homo sapiens leucine rich repeat containing 16B (LRRC16B), mRNA. 557 breast(3)|central_nervous_system(2)|cervix(3)|endometrium(7)|kidney(1)|large_intestine(9)|liver(1)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4) 52 GBM - Glioblastoma multiforme(265;0.019) GCTGAAGCTTCGCACCAGCAT 0.637000 46 30 0 0 1 0 0 CAMTA1 23261 broad.mit.edu 37 1 7723941 7723941 + Missense_Mutation SNP C T T TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr1:7723941C>T uc001aoi.3 + 8 1541 c.1334C>T c.(1333-1335)cCc>cTc p.P445L NM_015215 NP_056030 Q9Y6Y1 CMTA1_HUMAN Homo sapiens calmodulin binding transcription activator 1 (CAMTA1), transcript variant 1, mRNA. 445 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus calmodulin binding breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 85 Ovarian(185;0.0634) all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388) UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133) TTCGCCTTTCCCACCACGGGC 0.647000 T WWTR1 epitheliod hemangioendothelioma 84 69 0 0 1 0 0 ANKRD30A 91074 broad.mit.edu 37 10 37505242 37505242 + Silent SNP G A A rs140013037 by1000genomes TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr10:37505242G>A uc021ppc.1 + 31 2934 c.2835G>A c.(2833-2835)aaG>aaA p.K945K ANKRD30A_uc001iza.1_Silent_p.K945K NM_052997 NP_443723 Q9BXX3 AN30A_HUMAN Homo sapiens ankyrin repeat domain 30A (ANKRD30A), mRNA. 1001 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 TACTGAAAAAGAAACTGTCAG 0.343000 24 19 0 0 1 0 0 CMBL 134147 broad.mit.edu 37 5 10280619 10280620 + Missense_Mutation DNP GG AA AA TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr5:10280619_10280620GG>AA uc003jes.3 - 5 1134_1135 c.683_684CC>TT c.(682-684)ccc>cTT p.P228L NM_138809 NP_620164 Q96DG6 CMBL_HUMAN Homo sapiens carboxymethylenebutenolidase homolog (Pseudomonas) (CMBL), mRNA. 228 cytosol hydrolase activity|protein binding endometrium(1)|large_intestine(1)|lung(9)|skin(1)|stomach(1) 13 CGTCAATGTAGGGCTTGTCTGC 0.421000 60 32 0 0 1 0 0 OR8B2 26595 broad.mit.edu 37 11 124252580 124252580 + Silent SNP G A A TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr11:124252580G>A uc010sai.2 - 0 660 c.660C>T c.(658-660)ttC>ttT p.F220F NM_001005468 NP_001005468 Q96RD0 OR8B2_HUMAN Homo sapiens olfactory receptor, family 8, subfamily B, member 2 (OR8B2), mRNA. 220 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(13)|ovary(1) 23 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277) TAGTGACAATGAAAACATAAG 0.413000 63 66 0 0 1 0 0 RRP1B 23076 broad.mit.edu 37 21 45103231 45103231 + Missense_Mutation SNP G A A TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr21:45103231G>A uc002zdk.3 + 8 982 c.868G>A c.(868-870)Gag>Aag p.E290K RRP1B_uc002zdl.3_5'Flank NM_015056 NP_055871 Q14684 RRP1B_HUMAN Homo sapiens ribosomal RNA processing 1 homolog B (S. cerevisiae) (RRP1B), mRNA. 290 rRNA processing cytosol|nucleolus|preribosome, small subunit precursor protein binding cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(3)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(1) 21 STAD - Stomach adenocarcinoma(101;0.178) TGGAACCTTTGAGGACACAGG 0.438000 44 34 0 0 1 0 0 ST6GALNAC4 27090 broad.mit.edu 37 9 130674610 130674610 + Missense_Mutation SNP G A A TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr9:130674610G>A uc004bss.3 - 3 824 c.548C>T c.(547-549)aCc>aTc p.T183I ST6GALNAC4_uc004bst.3_Missense_Mutation_p.T99I NM_175039 NP_778205 Q9H4F1 SIA7D_HUMAN Homo sapiens ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1, 3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 4 (ST6GALNAC4), transcript variant 1, mRNA. 183 glycolipid metabolic process|protein glycosylation integral to Golgi membrane|nucleus|soluble fraction (alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl-galactosaminide 6-alpha-sialyltransferase activity endometrium(1)|large_intestine(2)|lung(2)|prostate(2) 7 CTCCGTGAAGGTGTACACCTG 0.672000 5 45 0 0 1 0 0 FAM184A 79632 broad.mit.edu 37 6 119332542 119332542 + Nonsense_Mutation SNP G A A TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr6:119332542G>A uc003pyj.3 - 5 1933 c.1585C>T c.(1585-1587)Cag>Tag p.Q529* FAM184A_uc003pyk.4_Nonsense_Mutation_p.Q409*|FAM184A_uc003pyl.4_Nonsense_Mutation_p.Q409* NM_024581 NP_078857 Q8NB25 F184A_HUMAN Homo sapiens family with sequence similarity 184, member A (FAM184A), transcript variant 1, mRNA. 529 breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5) 52 TGTTGAAGCTGATTTTTATCC 0.313000 14 6 0 0 1 0 0 DNAH7 56171 broad.mit.edu 37 2 196729702 196729702 + Missense_Mutation SNP C T T TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr2:196729702C>T uc002utj.4 - 40 6778 c.6677G>A c.(6676-6678)aGa>aAa p.R2226K NM_018897 NP_061720 Q8WXX0 DYH7_HUMAN Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA. 2226 ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3) 205 GAGCCAGCTTCTGTCTGTATT 0.343000 37 27 0 0 1 0 0 TRIM46 80128 broad.mit.edu 37 1 155147898 155147898 + Missense_Mutation SNP C T T TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr1:155147898C>T uc001fhs.1 + 1 183 c.100C>T c.(100-102)Cca>Tca p.P34S KRTCAP2_uc001fho.3_5'Flank|KRTCAP2_uc001fhp.1_5'Flank|TRIM46_uc009wpe.1_Non-coding_Transcript|TRIM46_uc010pez.1_Missense_Mutation_p.P21S|TRIM46_uc001fhq.3_Non-coding_Transcript|TRIM46_uc001fhr.3_Missense_Mutation_p.P34S|TRIM46_uc001fht.1_Non-coding_Transcript|TRIM46_uc010pfa.1_Intron|TRIM46_uc001fhu.1_Missense_Mutation_p.P11S|TRIM46_uc009wpg.1_Missense_Mutation_p.P21S|TRIM46_uc009wpf.2_Missense_Mutation_p.P21S|TRIM46_uc001fhw.1_Non-coding_Transcript NM_025058 NP_079334 Q7Z4K8 TRI46_HUMAN Homo sapiens tripartite motif containing 46 (TRIM46), mRNA. 34 intracellular zinc ion binding NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 29 all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) Epithelial(20;6.62e-10)|all cancers(21;2.68e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193) ACTGCTGTGCCCAGTGTGTCA 0.587000 165 276 0 0 1 0 0 FAM75E1 286234 broad.mit.edu 37 9 90503012 90503012 + Missense_Mutation SNP G A A TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr9:90503012G>A uc004app.4 + 3 3645 c.3610G>A c.(3610-3612)Ggc>Agc p.G1204S NM_178828 NP_849150 Q6ZUB1 CI079_HUMAN Homo sapiens chromosome 9 open reading frame 79 (C9orf79), mRNA. 1204 integral to membrane TGCGGACAAGGGCGAGGCCCA 0.652000 3 25 0 0 1 0 0 TET3 200424 broad.mit.edu 37 2 74328187 74328187 + Silent SNP G A A TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr2:74328187G>A uc002skb.4 + 8 3867 c.3867G>A c.(3865-3867)gaG>gaA p.E1289E NM_144993 NP_659430 O43151 TET3_HUMAN Homo sapiens tet methylcytosine dioxygenase 3 (TET3), mRNA. 1289 metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 CTCTGTCCGAGGTGTCTCAGA 0.597000 34 28 0 0 1 0 0 DSC1 1823 broad.mit.edu 37 18 28725708 28725708 + Missense_Mutation SNP G A A TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr18:28725708G>A uc002kwn.3 - 6 1067 c.805C>T c.(805-807)Ctt>Ttt p.L269F DSC1_uc002kwm.3_Missense_Mutation_p.L269F NM_024421 NP_077739 Q08554 DSC1_HUMAN Homo sapiens desmocollin 1 (DSC1), transcript variant Dsc1a, mRNA. 269 Cadherin 2. homophilic cell adhesion desmosome|gap junction|integral to membrane|membrane fraction calcium ion binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 53 OV - Ovarian serous cystadenocarcinoma(10;0.00778) GGTTCGTCAAGGTCTGTGGCG 0.358000 42 35 0 0 1 0 0 VPREB1 7441 broad.mit.edu 37 22 22599717 22599717 + Missense_Mutation SNP G A A TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr22:22599717G>A uc002zvx.1 + 1 432 c.406G>A c.(406-408)Gaa>Aaa p.E136K abParts_uc021wml.1_Intron NM_007128 NP_009059 P12018 VPREB_HUMAN Homo sapiens pre-B lymphocyte 1 (VPREB1), mRNA. 136 immune response extracellular region antigen binding|protein binding large_intestine(1)|liver(1)|lung(6)|skin(1) 9 all_hematologic(9;0.0312)|Acute lymphoblastic leukemia(84;0.155) all_cancers(3;3.14e-14)|Acute lymphoblastic leukemia(3;2.97e-57)|all_hematologic(3;5.9e-52) READ - Rectum adenocarcinoma(21;0.145) ggaagaaatggaACCCACTGC 0.607000 1 8 0 0 1 0 0 FAM71A 149647 broad.mit.edu 37 1 212799742 212799742 + RNA SNP C T T TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr1:212799742C>T uc010pth.1 - 0 c.372G>A FAM71A_uc001hjk.3_Missense_Mutation_p.S508F Q8IYT1 FA71A_HUMAN Homo sapiens cDNA FLJ40118 fis, clone TESTI2009412. breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(7)|liver(1)|lung(12)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 OV - Ovarian serous cystadenocarcinoma(81;0.00631)|all cancers(67;0.00981)|GBM - Glioblastoma multiforme(131;0.0715)|Epithelial(68;0.094) TCTCACAAATCTGGGAGGAGC 0.557000 89 108 0 0 1 0 0 DAZL 1618 broad.mit.edu 37 3 16640011 16640011 + Missense_Mutation SNP G A A TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr3:16640011G>A uc003cba.3 - 1 446 c.158C>T c.(157-159)cCa>cTa p.P53L DAZL_uc003cbb.3_Missense_Mutation_p.P33L NM_001190811 NP_001177740 Q92904 DAZL_HUMAN Homo sapiens deleted in azoospermia-like (DAZL), transcript variant 1, mRNA. 33 RRM. germ cell development|multicellular organismal development|positive regulation of translational initiation|spermatogenesis cytoplasm|nucleus RNA binding|nucleotide binding|protein binding|translation activator activity RAF1/DAZL(2) endometrium(1)|large_intestine(3)|lung(4)|prostate(3) 11 TTTGCCTTCTGGTAAAATATA 0.403000 96 79 0 0 1 0 0 TCRA 0 broad.mit.edu 37 14 22447294 22447294 + Missense_Mutation SNP C T T TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr14:22447294C>T uc010tmm.2 + 1 467 c.275C>T c.(274-276)tCc>tTc p.S92F TRA_uc021rpa.1_Intron|TCRA_uc001wbw.2_Intron|TCRA_uc021rpe.1_Intron|TCR-alpha_uc021rpg.1_Intron|AV2S1A1_uc010aiv.1_Intron|TCRA_uc021rpj.1_Intron|T-Cell_Receptor_V-alpha_region_uc021rpl.1_Intron|TCRA_uc010tmo.2_Non-coding_Transcript Homo sapiens mRNA for unknown variable region, clone: SEB 74. AGTCAAACTTCCTTCCACTTG 0.483000 OREG0022573 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 77 33 0 0 1 0 0 CELSR3 1951 broad.mit.edu 37 3 48679411 48679411 + Silent SNP G A A TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr3:48679411G>A uc003cuf.1 - 33 8991 c.8991C>T c.(8989-8991)tcC>tcT p.S2997S CELSR3_uc010hkf.3_Silent_p.S189S|CELSR3_uc010hkg.3_Silent_p.S882S|CELSR3_uc003cul.3_Silent_p.S2899S NM_001407 NP_001398 Q9NYQ7 CELR3_HUMAN Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 3 (flamingo homolog, Drosophila) (CELSR3), mRNA. 2899 homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|calcium ion binding|protein binding NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 83 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619) CCTCCTCCAAGGACAGGTCAC 0.562000 31 14 0 0 1 0 0 ZFYVE26 23503 broad.mit.edu 37 14 68274242 68274242 + Silent SNP G A A TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr14:68274242G>A uc001xka.2 - 4 898 c.759C>T c.(757-759)ccC>ccT p.P253P ZFYVE26_uc010tsz.1_Non-coding_Transcript|ZFYVE26_uc001xkc.4_Silent_p.P253P|ZFYVE26_uc010tta.2_Silent_p.P253P NM_015346 NP_056161 Q68DK2 ZFY26_HUMAN Homo sapiens zinc finger, FYVE domain containing 26 (ZFYVE26), mRNA. 253 cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination centrosome|midbody metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4) 94 all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115) CCTCCCGCAGGGGACTCCCCT 0.627000 44 39 0 0 1 0 0 GINS2 51659 broad.mit.edu 37 16 85721084 85721084 + Missense_Mutation SNP G A A TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr16:85721084G>A uc002fja.3 - 1 271 c.187C>T c.(187-189)Cca>Tca p.P63S GINS2_uc002fjb.2_Missense_Mutation_p.P63S NM_016095 NP_057179 Q9Y248 PSF2_HUMAN Homo sapiens GINS complex subunit 2 (Psf2 homolog) (GINS2), mRNA. 63 DNA strand elongation involved in DNA replication|S phase of mitotic cell cycle nucleoplasm protein binding endometrium(2)|large_intestine(2)|lung(2) 6 ATCCACTCTGGAGGGAGCAGG 0.602000 108 94 0 0 1 0 0 MAGI2 9863 broad.mit.edu 37 7 77824296 77824296 + Missense_Mutation SNP C A A TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr7:77824296C>A uc003ugx.3 - 11 2418 c.2164G>T c.(2164-2166)Gcc>Tcc p.A722S MAGI2_uc003ugy.3_Missense_Mutation_p.A722S|MAGI2_uc010ldx.1_Missense_Mutation_p.A331S|MAGI2_uc010ldy.1_Missense_Mutation_p.A331S NM_012301 NP_036433 Q86UL8 MAGI2_HUMAN Homo sapiens membrane associated guanylate kinase, WW and PDZ domain containing 2 (MAGI2), mRNA. 722 cell junction|synapse|synaptosome phosphatase binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3) 84 all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236) CTGTGAAGGGCAGGTGGGAAG 0.512000 102 13 4.3838e-07 4.4066e-07 1 1 0 OR8G2 26492 broad.mit.edu 37 11 124095622 124095622 + Silent SNP C T T TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr11:124095622C>T uc010saf.2 + 0 225 c.225C>T c.(223-225)ttC>ttT p.F75F NM_001007249 NP_001007250 Q8N0Y1 Q8N0Y1_HUMAN Homo sapiens olfactory receptor, family 8, subfamily G, member 2 (OR8G2), mRNA. 75 integral to membrane olfactory receptor activity Breast(109;0.0157)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.91e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528) TGTACTATTTCCTCAGTGGTC 0.463000 108 116 0 0 1 0 0 BBS9 27241 broad.mit.edu 37 7 33423371 33423371 + Missense_Mutation SNP G A A TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr7:33423371G>A uc003tdn.1 + 17 2396 c.1883G>A c.(1882-1884)gGa>gAa p.G628E BBS9_uc003tdo.1_Missense_Mutation_p.G593E|BBS9_uc003tdp.1_Missense_Mutation_p.G623E|BBS9_uc003tdq.1_Missense_Mutation_p.G588E|BBS9_uc010kwn.1_Non-coding_Transcript|BBS9_uc003tdr.1_Missense_Mutation_p.G152E|BBS9_uc003tds.1_Missense_Mutation_p.G51E|BBS9_uc011kao.1_Missense_Mutation_p.G506E NM_198428 NP_940820 Q3SYG4 PTHB1_HUMAN Homo sapiens Bardet-Biedl syndrome 9 (BBS9), transcript variant 2, mRNA. 628 fat cell differentiation|response to stimulus|visual perception BBSome|cilium membrane|microtubule organizing center|nucleus protein binding BBS9/PKD1L1(2) NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 50 GBM - Glioblastoma multiforme(11;0.0894) GAAAAACAGGGAGTCAAAGAT 0.358000 Bardet-Biedl syndrome 13 10 0 0 1 0 0 DNAH5 1767 broad.mit.edu 37 5 13841911 13841911 + Missense_Mutation SNP G A A TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr5:13841911G>A uc003jfd.2 - 32 5416 c.5374C>T c.(5374-5376)Ctt>Ttt p.L1792F NM_001369 NP_001360 Q8TE73 DYH5_HUMAN Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA. 1792 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) TCTTCCAAAAGAGAATTAAGC 0.413000 Kartagener syndrome 42 48 0 0 1 0 0 STAT1 6772 broad.mit.edu 37 2 191845366 191845366 + Missense_Mutation SNP G A A TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr2:191845366G>A uc010fse.2 - 17 2044 c.1612C>T c.(1612-1614)Ccg>Tcg p.P538S STAT1_uc021vue.1_Missense_Mutation_p.P350S|STAT1_uc002usj.2_Missense_Mutation_p.P538S|STAT1_uc002usk.2_Missense_Mutation_p.P538S|STAT1_uc002usl.2_Missense_Mutation_p.P540S|STAT1_uc010fsf.1_Missense_Mutation_p.P350S NM_007315 NP_009330 P42224 STAT1_HUMAN Homo sapiens signal transducer and activator of transcription 1, 91kDa (STAT1), transcript variant alpha, mRNA. 538 I-kappaB kinase/NF-kappaB cascade|activation of caspase activity|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway|tyrosine phosphorylation of STAT protein cytosol|nucleolus|nucleoplasm RNA polymerase II core promoter sequence-specific DNA binding|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity|calcium ion binding|protein binding|signal transducer activity p.P538L(1) autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141) Fludarabine(DB01073) CTCGTCCACGGAATGAGACCA 0.438000 65 34 0 0 1 0 0 TADA3 10474 broad.mit.edu 37 3 9828998 9828998 + Silent SNP G A A TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr3:9828998G>A uc003bsx.1 - 4 1139 c.591C>T c.(589-591)tcC>tcT p.S197S TADA3_uc010hcn.1_Silent_p.S197S|TADA3_uc003bsy.3_Silent_p.S197S|TADA3_uc003bsw.1_Silent_p.S26S NM_006354 NP_006345 O75528 TADA3_HUMAN Homo sapiens transcriptional adaptor 3 (TADA3), transcript variant 1, mRNA. 197 estrogen receptor signaling pathway|histone H3 acetylation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter Ada2/Gcn5/Ada3 transcription activator complex|STAGA complex|transcription factor TFTC complex ligand-dependent nuclear receptor binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|skin(2)|upper_aerodigestive_tract(1) 16 CCCAGCGCTGGGAGTAGTGCT 0.607000 78 70 0 0 1 0 0 LRRC31 79782 broad.mit.edu 37 3 169574607 169574607 + Missense_Mutation SNP T G G TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr3:169574607T>G uc003fgc.1 - 3 606 c.541A>C c.(541-543)Agt>Cgt p.S181R LRRC31_uc010hwp.1_Missense_Mutation_p.S125R NM_024727 NP_079003 Q6UY01 LRC31_HUMAN Homo sapiens leucine rich repeat containing 31 (LRRC31), mRNA. 181 p.N180I(1) cervix(3)|endometrium(3)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 31 all_cancers(22;2.76e-22)|all_epithelial(15;4.73e-27)|all_lung(20;9.24e-17)|Lung NSC(18;3.85e-16)|Ovarian(172;0.000223)|Breast(254;0.197) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00943) CCCACTTTACTGTTCCAAGAC 0.413000 46 47 0 0 1 0 0 PDIA5 10954 broad.mit.edu 37 3 122842984 122842984 + Silent SNP C T T TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr3:122842984C>T uc003egc.2 + 8 837 c.681C>T c.(679-681)ttC>ttT p.F227F PDIA5_uc003egd.2_Non-coding_Transcript NM_006810 NP_006801 Q14554 PDIA5_HUMAN Homo sapiens protein disulfide isomerase family A, member 5 (PDIA5), transcript variant 1, mRNA. 227 Thioredoxin 1. cell redox homeostasis|glycerol ether metabolic process|protein folding|response to stress endoplasmic reticulum lumen electron carrier activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2) 21 GBM - Glioblastoma multiforme(114;0.0427) TGCGCGGCTTCCCCACCATCT 0.537000 56 39 0 0 1 0 0 KCNJ15 3772 broad.mit.edu 37 21 39672192 39672192 + Missense_Mutation SNP C T T TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr21:39672192C>T uc021wjc.1 + 0 1009 c.1009C>T c.(1009-1011)Cca>Tca p.P337S KCNJ15_uc002ywv.3_Missense_Mutation_p.P337S|KCNJ15_uc002yww.3_Missense_Mutation_p.P337S|KCNJ15_uc002ywx.3_Missense_Mutation_p.P337S NM_170737 NP_733933 Q99712 IRK15_HUMAN Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 15 (KCNJ15), transcript variant 3, mRNA. 337 synaptic transmission integral to plasma membrane inward rectifier potassium channel activity p.S336R(1) autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1) 24 TCGGAAAAGCCCAGATTGCAC 0.428000 32 34 0 0 1 0 0 BC128131 0 broad.mit.edu 37 19 23159244 23159244 + Missense_Mutation SNP G A A TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr19:23159244G>A uc002nqz.1 - 1 729 c.703C>T c.(703-705)Ctt>Ttt p.L235F BC128131_uc002nqy.1_Non-coding_Transcript Homo sapiens zinc finger protein 117, mRNA (cDNA clone IMAGE:40112371). TGTGCAGTAAGGGTTGAGGCC 0.438000 28 21 0 0 1 0 0 SLC7A8 23428 broad.mit.edu 37 14 23598974 23598974 + Missense_Mutation SNP T C C TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr14:23598974T>C uc001wiz.3 - 8 1874 c.1148A>G c.(1147-1149)gAc>gGc p.D383G SLC7A8_uc001wiw.3_5'UTR|SLC7A8_uc001wix.3_Missense_Mutation_p.D180G|SLC7A8_uc010tnk.2_Missense_Mutation_p.D159G|SLC7A8_uc010tnl.2_Missense_Mutation_p.D278G|SLC7A8_uc001wiy.3_Non-coding_Transcript|SLC7A8_uc010akj.3_Intron NM_012244 NP_877392 Q9UHI5 LAT2_HUMAN Homo sapiens solute carrier family 7 (amino acid transporter light chain, L system), member 8 (SLC7A8), transcript variant 1, mRNA. 383 blood coagulation|cellular amino acid metabolic process|leukocyte migration|metal ion homeostasis|response to toxin basolateral plasma membrane|cytoplasm|integral to plasma membrane neutral amino acid transmembrane transporter activity|organic cation transmembrane transporter activity|peptide antigen binding|protein binding|toxin transporter activity autonomic_ganglia(1)|endometrium(6)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|skin(1) 24 all_cancers(95;4.6e-05) GBM - Glioblastoma multiforme(265;0.00809) L-Alanine(DB00160)|L-Glutamine(DB00130)|L-Phenylalanine(DB00120) TGTGTACATGTCGCTGGTGAC 0.493000 188 204 0 0 1 0 0 TINAG 27283 broad.mit.edu 37 6 54219401 54219401 + Missense_Mutation SNP G A A TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr6:54219401G>A uc003pcj.2 + 8 1363 c.1217G>A c.(1216-1218)cGa>cAa p.R406Q TINAG_uc010jzt.2_Non-coding_Transcript NM_014464 NP_055279 Q9UJW2 TINAG_HUMAN Homo sapiens tubulointerstitial nephritis antigen (TINAG), mRNA. 406 Malpighian tubule morphogenesis|cell adhesion|immune response|proteolysis basement membrane cysteine-type endopeptidase activity|nucleotide binding|polysaccharide binding|scavenger receptor activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1) 34 Lung NSC(77;0.0518) LUSC - Lung squamous cell carcinoma(124;0.246) GAAAAATATCGAAAGCTTCAG 0.318000 24 26 0 0 1 0 0 ARFGEF2 10564 broad.mit.edu 37 20 47570302 47570302 + Silent SNP C T T TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr20:47570302C>T uc002xtx.4 + 5 965 c.813C>T c.(811-813)ccC>ccT p.P271P NM_006420 NP_006411 Q9Y6D5 BIG2_HUMAN Homo sapiens ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited) (ARFGEF2), mRNA. 271 exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction Golgi membrane|cytosol ARF guanyl-nucleotide exchange factor activity breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 63 BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198) GAGACGCACCCAGAGAAAGAG 0.473000 38 22 0 0 1 0 0 FAM209B 388799 broad.mit.edu 37 20 55108454 55108454 + Silent SNP C T T TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr20:55108454C>T uc002xxz.3 + 0 153 c.57C>T c.(55-57)gcC>gcT p.A19A FAM209B_uc010zzh.2_Intron NM_001013646 NP_001013668 Q5JX69 CT107_HUMAN Homo sapiens family with sequence similarity 209, member B (FAM209B), mRNA. 19 integral to membrane GCAGCTATGCCTTTATGTTCT 0.552000 123 102 0 0 1 0 0 MAGEA11 4110 broad.mit.edu 37 X 148797450 148797450 + Missense_Mutation SNP C T T TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chrX:148797450C>T uc004fdq.3 + 4 459 c.304C>T c.(304-306)Cgg>Tgg p.R102W MAGEA11_uc004fdr.3_Missense_Mutation_p.R73W NM_005366 NP_005357 P43364 MAGAB_HUMAN Homo sapiens melanoma antigen family A, 11 (MAGEA11), transcript variant 1, mRNA. 102 cytoplasm|nucleus protein binding cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1) 9 Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662) TCCCACAGTTCGGCCTGCTGA 0.537000 12 175 0 0 1 0 0 OR52I2 143502 broad.mit.edu 37 11 4608254 4608254 + Missense_Mutation SNP G A A TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr11:4608254G>A uc010qyh.2 + 0 234 c.212G>A c.(211-213)gGa>gAa p.G71E NM_001005170 NP_001005170 Q8NH67 O52I2_HUMAN Homo sapiens olfactory receptor, family 52, subfamily I, member 2 (OR52I2), mRNA. 71 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|pancreas(1)|skin(1) 19 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19) GCCCTGTTAGGAAACACCATC 0.507000 165 108 0 0 1 0 0 NWD1 284434 broad.mit.edu 37 19 16874664 16874664 + Missense_Mutation SNP C T T TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr19:16874664C>T uc002neu.4 + 8 2581 c.2159C>T c.(2158-2160)tCa>tTa p.S720L NWD1_uc002net.4_Missense_Mutation_p.S585L|NWD1_uc002nev.4_Missense_Mutation_p.S514L|NWD1_uc021uqg.1_Missense_Mutation_p.S585L NM_001007525 NP_001007526 Q149M9 NWD1_HUMAN Homo sapiens NACHT and WD repeat domain containing 1 (NWD1), mRNA. 720 ATP binding NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 CTGTGGTTCTCACATACGGTT 0.572000 73 66 0 0 1 0 0 PCNXL2 80003 broad.mit.edu 37 1 233314921 233314921 + Splice_Site SNP C T T TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr1:233314921C>T uc001hvl.2 - 16 3302 c.3067_splice c.e16-1 p.E1023_splice PCNXL2_uc001hvm.1_Splice_Site|PCNXL2_uc009xfu.3_Splice_Site|PCNXL2_uc001hvp.1_Splice_Site|PCNXL2_uc009xfv.1_Splice_Site NM_014801 NP_055616 A6NKB5 PCX2_HUMAN Homo sapiens pecanex-like 2 (Drosophila) (PCNXL2), transcript variant 1, mRNA. 1023 integral to membrane NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 86 all_cancers(173;0.0347)|Prostate(94;0.137) CTCCACGGTTCCTAAAGAAAA 0.507000 46 43 0 0 1 0 0 BACH2 60468 broad.mit.edu 37 6 90660235 90660235 + Silent SNP C T T TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr6:90660235C>T uc011eab.2 - 6 2464 c.1590G>A c.(1588-1590)gaG>gaA p.E530E BACH2_uc003pnw.3_Silent_p.E530E|BACH2_uc010kch.3_Silent_p.E530E NM_021813 NP_068585 Q9BYV9 BACH2_HUMAN Homo sapiens BTB and CNC homology 1, basic leucine zipper transcription factor 2 (BACH2), transcript variant 1, mRNA. 530 nucleus protein dimerization activity|sequence-specific DNA binding central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1) 45 all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063) BRCA - Breast invasive adenocarcinoma(108;0.0799) CGCTCCCGTCCTCCGCGTAGG 0.617000 71 64 0 0 1 0 0 SOS1 6654 broad.mit.edu 37 2 39250247 39250247 + Missense_Mutation SNP C A A TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr2:39250247C>A uc002rrk.4 - 9 1363 c.1322G>T c.(1321-1323)tGt>tTt p.C441F SOS1_uc010ynr.1_Non-coding_Transcript|SOS1_uc002rrj.4_Missense_Mutation_p.C55F|SOS1_uc002rrl.3_Missense_Mutation_p.C173F NM_005633 NP_005624 Q07889 SOS1_HUMAN Homo sapiens son of sevenless homolog 1 (Drosophila) (SOS1), mRNA. 441 C -> Y (in NS4). Ras protein signal transduction|apoptosis|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway cytosol DNA binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|protein binding autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2) 75 all_hematologic(82;0.21) AAATTCATTACAACACTGTCC 0.363000 Noonan syndrome 60 40 6.2361e-21 6.31784e-21 1 1 0 PTPRT 11122 broad.mit.edu 37 20 40743865 40743865 + Missense_Mutation SNP C T T TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr20:40743865C>T uc002xkg.3 - 21 3257 c.3073G>A c.(3073-3075)Gtc>Atc p.V1025I PTPRT_uc010ggj.3_Missense_Mutation_p.V1044I|PTPRT_uc010ggi.3_Missense_Mutation_p.V228I NM_007050 NP_008981 O14522 PTPRT_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA. 1025 Tyrosine-protein phosphatase 1. homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway cell surface|integral to membrane|plasma membrane alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity 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) GTGCGTATGACGTATTCTGCC 0.522000 77 52 0 0 1 0 0 PDE4DIP 9659 broad.mit.edu 37 1 144873951 144873951 + Missense_Mutation SNP G A A TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr1:144873951G>A uc021ouh.1 - 30 5308 c.5006C>T c.(5005-5007)gCc>gTc p.A1669V NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|PDE4DIP_uc001elk.2_Intron|PDE4DIP_uc001ell.2_Intron|PDE4DIP_uc001elm.4_Intron|PDE4DIP_uc001eln.4_Intron|PDE4DIP_uc001elo.3_Intron|PDE4DIP_uc001elw.4_Missense_Mutation_p.A1669V|PDE4DIP_uc001elx.4_Missense_Mutation_p.A1625V|PDE4DIP_uc001elv.4_Missense_Mutation_p.A676V NM_001198834 NP_001185763 Q5VU43 MYOME_HUMAN Homo sapiens phosphodiesterase 4D interacting protein (PDE4DIP), transcript variant 9, mRNA. 1669 cellular protein complex assembly Golgi apparatus|centrosome|myofibril|nucleus enzyme binding p.A1669D(3) NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 176 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) GTTGGATTCGGCCTTAGCCCC 0.498000 T PDGFRB MPD 602 132 0 0 1 0 0 PRSS3P2 154754 broad.mit.edu 37 7 142479923 142479923 + Missense_Mutation SNP G A A TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr7:142479923G>A uc011ksq.2 + 1 138 c.55G>A c.(55-57)Gat>Aat p.D19N TCRBV2S1_uc003vzp.2_Intron|TCRBV3S1_uc011ksh.2_Intron|TCRBV3S1_uc003vzw.2_Intron|TCRBV3S1_uc011ksi.2_Intron|TCRBV3S1_uc010loj.2_Intron|TCRBV3S1_uc003wag.2_Intron|BV6S4-BJ2S2_uc003wan.1_Intron|PRSS3P2_uc011ksr.1_Non-coding_Transcript Homo sapiens protease, serine, 3 pseudogene (TRY6), non-coding RNA. TGTCCCCTTTGATGATGATGA 0.547000 196 96 0 0 1 0 0 DCHS2 54798 broad.mit.edu 37 4 155156138 155156138 + Silent SNP C T T TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr4:155156138C>T uc003inw.2 - 24 8301 c.8301G>A c.(8299-8301)acG>acA p.T2767T NM_017639 NP_060109 Q6V1P9 PCD23_HUMAN Homo sapiens dachsous 2 (Drosophila) (DCHS2), transcript variant 1, mRNA. 2767 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 176 all_hematologic(180;0.208) Renal(120;0.0854) LUSC - Lung squamous cell carcinoma(193;0.107) GATCAGAGGTCGTCTGAGTTG 0.418000 58 35 0 0 1 0 0 PDE9A 5152 broad.mit.edu 37 21 44188337 44188337 + Missense_Mutation SNP G A A TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr21:44188337G>A uc002zbm.3 + 15 1459 c.1396G>A c.(1396-1398)Gag>Aag p.E466K PDE9A_uc002zbn.3_Missense_Mutation_p.E339K|PDE9A_uc002zbo.3_Missense_Mutation_p.E413K|PDE9A_uc002zbp.3_Missense_Mutation_p.E259K|PDE9A_uc002zbq.3_Missense_Mutation_p.E364K|PDE9A_uc002zbs.3_Missense_Mutation_p.E259K|PDE9A_uc002zbr.3_Missense_Mutation_p.E259K|PDE9A_uc002zbt.3_Missense_Mutation_p.E338K|PDE9A_uc002zbu.3_Missense_Mutation_p.E332K|PDE9A_uc002zbv.3_Missense_Mutation_p.E306K|PDE9A_uc002zbw.3_Missense_Mutation_p.E249K|PDE9A_uc002zbx.3_Missense_Mutation_p.E406K|PDE9A_uc002zby.3_Missense_Mutation_p.E249K|PDE9A_uc002zbz.3_Missense_Mutation_p.E358K|PDE9A_uc002zca.3_Missense_Mutation_p.E425K|PDE9A_uc002zcb.3_Missense_Mutation_p.E440K|PDE9A_uc002zcc.3_Missense_Mutation_p.E365K|PDE9A_uc002zcd.3_Missense_Mutation_p.E380K|PDE9A_uc002zce.3_Missense_Mutation_p.E399K|PDE9A_uc002zcf.3_Missense_Mutation_p.E259K|PDE9A_uc002zcg.3_Missense_Mutation_p.E259K NM_002606 NP_001001585 O76083 PDE9A_HUMAN Homo sapiens phosphodiesterase 9A (PDE9A), transcript variant 1, mRNA. 466 Catalytic (By similarity). platelet activation|signal transduction Golgi apparatus|cytosol|endoplasmic reticulum|perinuclear region of cytoplasm|ruffle membrane 3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding|protein binding breast(1)|endometrium(4)|large_intestine(6)|lung(8)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 27 TATCTCTAACGAGGTCCGTCC 0.453000 40 22 0 0 1 0 0 T 6862 broad.mit.edu 37 6 166571907 166571907 + Missense_Mutation SNP C T T rs34517945 byFrequency TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr6:166571907C>T uc003qut.1 - 7 1493 c.1207G>A c.(1207-1209)Gaa>Aaa p.E403K T_uc003quu.1_Missense_Mutation_p.E402K|T_uc003quv.1_Missense_Mutation_p.E344K NM_003181 NP_003172 O15178 BRAC_HUMAN Homo sapiens T, brachyury homolog (mouse) (T), mRNA. 402 anterior/posterior axis specification, embryo|mesoderm development|primitive streak formation nucleus sequence-specific DNA binding transcription factor activity autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 39 Prostate(117;4.48e-07)|Ovarian(120;1.78e-06)|Breast(66;2.54e-06)|Lung SC(201;0.0225)|Esophageal squamous(34;0.0559) OV - Ovarian serous cystadenocarcinoma(33;1.09e-113)|GBM - Glioblastoma multiforme(31;1.51e-108)|BRCA - Breast invasive adenocarcinoma(81;8.45e-09)|LUAD - Lung adenocarcinoma(999;0.0407) GCCGCCCCTTCGTACAGTGGG 0.682000 Chordoma, Familial Clustering of 97 97 0 0 1 0 0 ATP1A4 480 broad.mit.edu 37 1 160143991 160143991 + Silent SNP C T T TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr1:160143991C>T uc001fve.4 + 13 2561 c.2082C>T c.(2080-2082)atC>atT p.I694I ATP1A4_uc001fvf.4_Non-coding_Transcript|ATP1A4_uc001fvg.3_Silent_p.I197I NM_144699 NP_653300 Q13733 AT1A4_HUMAN Homo sapiens ATPase, Na+/K+ transporting, alpha 4 polypeptide (ATP1A4), transcript variant 1, mRNA. 694 ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility sodium:potassium-exchanging ATPase complex ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 75 all_cancers(52;2.56e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) accctgagatcgtgtttgctc 0.527000 86 36 0 0 1 0 0 IL18R1 8809 broad.mit.edu 37 2 102988441 102988441 + Missense_Mutation SNP G T T TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr2:102988441G>T uc002tbw.4 + 3 481 c.331G>T c.(331-333)Gtc>Ttc p.V111F IL18R1_uc010ywb.1_Missense_Mutation_p.V111F|IL18R1_uc010ywd.2_5'UTR|IL18R1_uc010fiy.3_Missense_Mutation_p.V111F|IL18R1_uc010ywc.2_Missense_Mutation_p.V111F NM_003855 NP_003846 Q13478 IL18R_HUMAN Homo sapiens interleukin 18 receptor 1 (IL18R1), mRNA. 111 Ig-like C2-type 1. innate immune response integral to membrane|plasma membrane interleukin-1 receptor activity breast(1)|endometrium(3)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 34 GAAATTAAATGTCATCAGAAG 0.284000 7 4 0.00024832 0.000248964 1 1 0 VWC2 375567 broad.mit.edu 37 7 49842382 49842382 + Missense_Mutation SNP G A A TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr7:49842382G>A uc003tot.1 + 2 1328 c.772G>A c.(772-774)Gag>Aag p.E258K NM_198570 NP_940972 Q2TAL6 VWC2_HUMAN Homo sapiens von Willebrand factor C domain containing 2 (VWC2), mRNA. 258 VWFC 2. negative regulation of BMP signaling pathway|positive regulation of neuron differentiation basement membrane|extracellular space cervix(1)|endometrium(2)|large_intestine(1)|lung(3)|prostate(1) 8 TCCCCAGACGGAGTGTGTGGA 0.567000 84 60 0 0 1 0 0 DUSP13 51207 broad.mit.edu 37 10 76855379 76855379 + Missense_Mutation SNP A T T TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr10:76855379A>T uc001jwr.3 - 2 411 c.348T>A c.(346-348)ttT>ttA p.F116L DUSP13_uc001jws.3_3'UTR|DUSP13_uc001jwu.3_Missense_Mutation_p.F209L|DUSP13_uc001jww.3_Missense_Mutation_p.F166L|DUSP13_uc009xrs.3_Missense_Mutation_p.F209L|DUSP13_uc001jwt.3_Missense_Mutation_p.F209L|DUSP13_uc001jwv.3_Missense_Mutation_p.F116L NM_016364 NP_057448 Q6B8I1 MDSP_HUMAN Homo sapiens dual specificity phosphatase 13 (DUSP13), transcript variant 6, mRNA. 107 Tyrosine-protein phosphatase. cytoplasm protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1) 8 all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348) CAACAGGCAGAAAGTAGACAC 0.557000 108 98 0 0 1 0 0 TRIM58 25893 broad.mit.edu 37 1 248028006 248028006 + Splice_Site SNP G A A TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr1:248028006G>A uc001ido.3 + 3 565 c.517_splice c.e3-1 p.E173_splice NM_015431 NP_056246 Q8NG06 TRI58_HUMAN Homo sapiens tripartite motif containing 58 (TRIM58), mRNA. 173 intracellular zinc ion binding p.?(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1) 63 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) all_cancers(173;0.0286) OV - Ovarian serous cystadenocarcinoma(106;0.0319) TGTCACCTCAGGAGAAAGTGG 0.582000 37 17 0 0 1 0 0 LY6E 4061 broad.mit.edu 37 8 144103150 144103150 + Missense_Mutation SNP C G G TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr8:144103150C>G uc003yxn.2 + 3 494 c.340C>G c.(340-342)Ctg>Gtg p.L114V LY6E_uc003yxm.2_Missense_Mutation_p.L114V|LY6E_uc003yxo.2_Non-coding_Transcript NM_001127213 NP_002337 Q16553 LY6E_HUMAN Homo sapiens lymphocyte antigen 6 complex, locus E (LY6E), transcript variant 2, mRNA. 114 cell surface receptor linked signaling pathway anchored to membrane|integral to plasma membrane endometrium(1)|kidney(3)|large_intestine(2)|lung(1) 7 all_cancers(97;1.94e-10)|all_epithelial(106;1.22e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) CGTCACCCTGCTGGGTGCCGG 0.662000 92 47 0 0 1 0 0 OR4N5 390437 broad.mit.edu 37 14 20612023 20612023 + Silent SNP C T T TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr14:20612023C>T uc010tla.2 + 0 129 c.129C>T c.(127-129)ttC>ttT p.F43F NM_001004724 NP_001004724 Q8IXE1 OR4N5_HUMAN Homo sapiens olfactory receptor, family 4, subfamily N, member 5 (OR4N5), mRNA. 43 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) CTGGAAATTTCCTCATCATTT 0.448000 136 143 0 0 1 0 0 THSD7B 80731 broad.mit.edu 37 2 137917861 137917861 + Missense_Mutation SNP C T T TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr2:137917861C>T uc002tva.1 + 4 1355 c.1355C>T c.(1354-1356)aCg>aTg p.T452M THSD7B_uc010zbj.1_Intron|THSD7B_uc002tvb.3_Missense_Mutation_p.T342M NM_001080427 NP_001073896 Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA. NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 134 BRCA - Breast invasive adenocarcinoma(221;0.19) CCTTGCTCTACGGACTGCATA 0.522000 58 40 0 0 1 0 0 PROSER1 80209 broad.mit.edu 37 13 39587014 39587014 + Missense_Mutation SNP G A A TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr13:39587014G>A uc001uwy.3 - 10 3248 c.2375C>T c.(2374-2376)tCt>tTt p.S792F PROSER1_uc001uwz.3_Missense_Mutation_p.S770F NM_025138 NP_079414 Q86XN7 CM023_HUMAN Homo sapiens proline and serine rich 1 (PROSER1), transcript variant 1, mRNA. 792 Ser-rich. ATTAGAGACAGAAAAGCCTGG 0.557000 148 95 0 0 1 0 0 NPC1 4864 broad.mit.edu 37 18 21125051 21125051 + Missense_Mutation SNP C G G TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr18:21125051C>G uc002kum.4 - 11 2094 c.1820G>C c.(1819-1821)cGa>cCa p.R607P NPC1_uc010xaz.2_Missense_Mutation_p.R340P|NPC1_uc010xba.1_Missense_Mutation_p.R452P NM_000271 NP_000262 O15118 NPC1_HUMAN Homo sapiens Niemann-Pick disease, type C1 (NPC1), mRNA. 607 autophagy|bile acid metabolic process|cholesterol efflux|cholesterol homeostasis|lysosomal transport endoplasmic reticulum|integral to plasma membrane|late endosome membrane|lysosomal membrane|nuclear envelope|perinuclear region of cytoplasm hedgehog receptor activity|protein binding|sterol transporter activity p.R607Q(2) breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(10)|lung(13)|ovary(2)|stomach(1) 38 all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127) TTCAATACTTCGTTCAGCAGT 0.338000 26 27 0 0 1 0 0 PDZD2 23037 broad.mit.edu 37 5 32088112 32088112 + Silent SNP C T T TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr5:32088112C>T uc003jhl.3 + 19 4946 c.4558C>T c.(4558-4560)Ctg>Ttg p.L1520L PDZD2_uc003jhm.3_Silent_p.L1520L NM_178140 NP_835260 O15018 PDZD2_HUMAN Homo sapiens PDZ domain containing 2 (PDZD2), mRNA. 1520 cell adhesion cell-cell junction|endoplasmic reticulum|extracellular region|nucleus NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 148 CAAAAACTTTCTGAGCAACTA 0.493000 32 30 0 0 1 0 0 EMILIN3 90187 broad.mit.edu 37 20 39992463 39992463 + Missense_Mutation SNP T C C TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr20:39992463T>C uc002xjy.1 - 2 553 c.329A>G c.(328-330)tAc>tGc p.Y110C NM_052846 NP_443078 Q9NT22 EMIL3_HUMAN Homo sapiens elastin microfibril interfacer 3 (EMILIN3), mRNA. 110 EMI. proteinaceous extracellular matrix biliary_tract(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(3)|urinary_tract(2) 30 Myeloproliferative disorder(115;0.00425) CACTGTCTTGTAGCCAACCTT 0.622000 90 56 0 0 1 0 0 TFE3 7030 broad.mit.edu 37 X 48887770 48887770 + Missense_Mutation SNP G A A TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chrX:48887770G>A uc004dmb.3 - 9 1865 c.1627C>T c.(1627-1629)Cca>Tca p.P543S TFE3_uc004dmc.3_Missense_Mutation_p.P438S NM_006521 NP_006512 P19532 TFE3_HUMAN Homo sapiens transcription factor binding to IGHM enhancer 3 (TFE3), mRNA. 543 humoral immune response|positive regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding NONO/TFE3(2)|PRCC/TFE3(25)|SFPQ/TFE3(6)|CLTC/TFE3(2)|ASPSCR1/TFE3(167) central_nervous_system(1) 1 GCCCGCAGTGGGGACAGGGCA 0.672000 T """SFPQ, ASPSCR1, PRCC, NONO, CLTC""" """papillary renal, alveolar soft part sarcoma, renal""" 6 46 0 0 1 0 0 OR10W1 81341 broad.mit.edu 37 11 58034558 58034558 + Missense_Mutation SNP T A A TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr11:58034558T>A uc001nmq.1 - 0 1175 c.773A>T c.(772-774)aAc>aTc p.N258I NM_207374 NP_997257 Q8NGF6 O10W1_HUMAN Homo sapiens olfactory receptor, family 10, subfamily W, member 1 (OR10W1), mRNA. 258 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(1) 26 Breast(21;0.0589) TTGCTTGGGGTTGTAGCTGGA 0.572000 93 75 0 0 1 0 0 HERC1 8925 broad.mit.edu 37 15 63948502 63948503 + Nonsense_Mutation DNP GG AA AA TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr15:63948502_63948503GG>AA uc002amp.3 - 48 9802_9803 c.9654_9655CC>TT c.(9652-9657)atccga>atTTga p.R3219* NM_003922 NP_003913 Q15751 HERC1_HUMAN Homo sapiens hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1 (HERC1), mRNA. 3219 protein modification process|transport Golgi apparatus|cytosol|membrane ARF guanyl-nucleotide exchange factor activity|acid-amino acid ligase activity NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 132 ACTAGCGTTCGGATATCTGTTA 0.510000 45 47 0 0 1 0 0 SSR2 6746 broad.mit.edu 37 1 155989821 155989821 + Silent SNP G A A TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr1:155989821G>A uc001fmx.3 - 1 218 c.138C>T c.(136-138)atC>atT p.I46I SSR2_uc010pgw.2_Silent_p.I65I NM_003145 NP_003136 P43308 SSRB_HUMAN Homo sapiens signal sequence receptor, beta (translocon-associated protein beta) (SSR2), mRNA. 46 I -> T (in Ref. 6; BAD96320). cotranslational protein targeting to membrane endoplasmic reticulum membrane|integral to membrane signal sequence binding cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|stomach(1) 10 Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195) CAACATTGTAGATGTTGTACT 0.483000 98 37 0 0 1 0 0 FAT3 120114 broad.mit.edu 37 11 92532310 92532310 + Missense_Mutation SNP G A A TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr11:92532310G>A uc001pdj.4 + 8 6148 c.6131G>A c.(6130-6132)cGt>cAt p.R2044H NM_001008781 NP_001008781 Q8TDW7 FAT3_HUMAN Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA. 2044 Cadherin 18. homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) CCCTTTGACCGTGAAGAACAA 0.463000 TCGA Ovarian(4;0.039) 89 7 0 0 1 0 0 BFAR 51283 broad.mit.edu 37 16 14742418 14742419 + Missense_Mutation DNP CC TT TT TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr16:14742418_14742419CC>TT uc002dco.3 + 2 718_719 c.437_438CC>TT c.(436-438)tcc>tTT p.S146F BFAR_uc010uzh.2_Intron NM_016561 NP_057645 Q9NZS9 BFAR_HUMAN Homo sapiens bifunctional apoptosis regulator (BFAR), mRNA. 146 anti-apoptosis|apoptosis endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction structural molecule activity|zinc ion binding p.S146S(2) endometrium(4)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1) 11 GGATTCTTTTCCGGTGTGCTCA 0.520000 104 52 0 0 1 0 0 PPP1R9A 55607 broad.mit.edu 37 7 94740616 94740616 + Missense_Mutation SNP G A A TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr7:94740616G>A uc003unp.3 + 2 1723 c.1441G>A c.(1441-1443)Gaa>Aaa p.E481K PPP1R9A_uc010lfj.3_Missense_Mutation_p.E481K|PPP1R9A_uc011kif.2_Missense_Mutation_p.E481K|PPP1R9A_uc003unq.3_Missense_Mutation_p.E481K|PPP1R9A_uc011kig.2_Missense_Mutation_p.E481K NM_017650 NP_060120 Q9ULJ8 NEB1_HUMAN Homo sapiens protein phosphatase 1, regulatory subunit 9A (PPP1R9A), transcript variant 4, mRNA. 481 Interacts with protein phosphatase 1 (By similarity). cell junction|synapse|synaptosome actin binding p.E481K(2) breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5) 71 all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09) STAD - Stomach adenocarcinoma(171;0.0031) GAGAAATGACGAAGTTGACCC 0.418000 HNSCC(28;0.073) 29 23 0 0 1 0 0 GPR139 124274 broad.mit.edu 37 16 20043447 20043447 + Silent SNP C T T TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr16:20043447C>T uc002dgu.1 - 1 834 c.672G>A c.(670-672)ggG>ggA p.G224G GPR139_uc010vaw.1_Silent_p.G131G NM_001002911 NP_001002911 Q6DWJ6 GP139_HUMAN Homo sapiens G protein-coupled receptor 139 (GPR139), mRNA. 224 integral to membrane|plasma membrane autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 30 CGGTGGTCTTCCCCGTGGAGT 0.522000 113 83 0 0 1 0 0 YEATS2 55689 broad.mit.edu 37 3 183469917 183469917 + Silent SNP G A A TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr3:183469917G>A uc003fly.2 + 9 1221 c.1026G>A c.(1024-1026)caG>caA p.Q342Q NM_018023 NP_060493 Q9ULM3 YETS2_HUMAN Homo sapiens YEATS domain containing 2 (YEATS2), mRNA. 342 histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter Ada2/Gcn5/Ada3 transcription activator complex TBP-class protein binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3) 49 all_cancers(143;6.55e-10)|Ovarian(172;0.0303) all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22) TCTATCCTCAGTCCTCGGAGT 0.483000 90 70 0 0 1 0 0 ARPP21 10777 broad.mit.edu 37 3 35758831 35758832 + Missense_Mutation DNP AG TA TA TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr3:35758831_35758832AG>TA uc011axy.2 + 10 1087_1088 c.875_876AG>TA c.(874-876)aag>aTA p.K292I ARPP21_uc003cga.3_Intron|ARPP21_uc003cgb.3_Missense_Mutation_p.K326I|ARPP21_uc003cgf.3_Missense_Mutation_p.K127I NM_016300 NP_057384 Q9UBL0 ARP21_HUMAN Homo sapiens cAMP-regulated phosphoprotein, 21kDa (ARPP21), transcript variant 1, mRNA. 326 cytoplasm nucleic acid binding cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 61 GAGACCTATAAGAAAAGACAGC 0.322000 28 33 0 0 1 0 0 TPO 7173 broad.mit.edu 37 2 1418231 1418231 + Silent SNP A G G TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr2:1418231A>G uc002qwr.3 + 1 137 c.51A>G c.(49-51)gaA>gaG p.E17E TPO_uc010ewj.3_Intron|TPO_uc010yin.1_Silent_p.E17E|TPO_uc002qww.3_Silent_p.E17E|TPO_uc002qwx.3_Silent_p.E17E|TPO_uc002qwu.3_Silent_p.E17E|TPO_uc010yio.2_Silent_p.E17E|TPO_uc010yip.2_Silent_p.E17E NM_001206744 NP_001193673 P07202 PERT_HUMAN Homo sapiens thyroid peroxidase (TPO), transcript variant 6, mRNA. 17 cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process cell surface|cytoplasm|integral to plasma membrane calcium ion binding|heme binding|iodide peroxidase activity breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627) all_cancers(51;0.0338) all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12) Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550) CCTGCACAGAAGCCTTCTTCC 0.463000 21 15 0 0 1 0 0 ALDOB 229 broad.mit.edu 37 9 104192121 104192121 + Silent SNP G A A TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr9:104192121G>A uc004bbk.2 - 2 322 c.240C>T c.(238-240)ttC>ttT p.F80F NM_000035 NP_000026 P05062 ALDOB_HUMAN Homo sapiens aldolase B, fructose-bisphosphate (ALDOB), mRNA. 80 NADH oxidation|fructose 1,6-bisphosphate metabolic process|fructose catabolic process|gluconeogenesis|glycolysis|positive regulation of ATPase activity|vacuolar proton-transporting V-type ATPase complex assembly centriolar satellite|cytosol ATPase binding|cytoskeletal protein binding|fructose binding|fructose-bisphosphate aldolase activity|identical protein binding central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(5)|prostate(2)|skin(4)|urinary_tract(1) 24 Acute lymphoblastic leukemia(62;0.0559) GGGTCTCGTGGAAAAGGATCA 0.517000 15 140 0 0 1 0 0 SLC22A2 6582 broad.mit.edu 37 6 160679408 160679409 + Missense_Mutation DNP AC TT TT TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr6:160679408_160679409AC>TT uc003qtf.3 - 0 555_556 c.381_382GT>AA c.(379-384)gtgtac>gtAAac p.Y128N SLC22A2_uc003qth.2_Missense_Mutation_p.Y128N NM_003058 NP_003049 O15244 S22A2_HUMAN Homo sapiens solute carrier family 22 (organic cation transporter), member 2 (SLC22A2), mRNA. 128 body fluid secretion|neurotransmitter biosynthetic process|neurotransmitter secretion integral to plasma membrane|membrane fraction neurotransmitter transporter activity|organic cation transmembrane transporter activity breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(16)|prostate(2)|skin(1) 27 Breast(66;0.000776)|Ovarian(120;0.0303) OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06) GGCGTCTCGTACACCCAGCCGT 0.619000 79 46 0 0 1 0 0 C6orf58 352999 broad.mit.edu 37 6 127898343 127898343 + Missense_Mutation SNP C T T TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr6:127898343C>T uc003qbh.3 + 0 25 c.13C>T c.(13-15)Cct>Tct p.P5S NM_001010905 NP_001010905 Q6P5S2 CF058_HUMAN Homo sapiens chromosome 6 open reading frame 58 (C6orf58), mRNA. 5 extracellular region kidney(3)|large_intestine(3)|liver(1)|lung(7)|pancreas(1) 15 GBM - Glioblastoma multiforme(226;0.0405)|all cancers(137;0.156) GGCTTTTCTTCCTTCCTGGGT 0.488000 53 51 0 0 1 0 0 PXDNL 137902 broad.mit.edu 37 8 52387609 52387609 + Missense_Mutation SNP G A A TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr8:52387609G>A uc003xqu.4 - 6 718 c.617C>T c.(616-618)gCt>gTt p.A206V NM_144651 NP_653252 A1KZ92 PXDNL_HUMAN Homo sapiens peroxidasin homolog (Drosophila)-like (PXDNL), mRNA. 206 LRRCT. hydrogen peroxide catabolic process extracellular space heme binding|peroxidase activity p.A206V(1) NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 48 all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015) GGTAGCCGCAGCCTGGGTGTG 0.522000 29 27 0 0 1 0 0 NLRP10 338322 broad.mit.edu 37 11 7981342 7981342 + Missense_Mutation SNP C G G TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr11:7981342C>G uc001mfv.1 - 1 1834 c.1817G>C c.(1816-1818)aGc>aCc p.S606T NM_176821 NP_789791 Q86W26 NAL10_HUMAN Homo sapiens NLR family, pyrin domain containing 10 (NLRP10), mRNA. 606 ATP binding breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189) ACTCAAGCTGCTTTTGACAGA 0.368000 32 25 0 0 1 0 0 SLC7A13 157724 broad.mit.edu 37 8 87241983 87241983 + Missense_Mutation SNP G A A TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr8:87241983G>A uc003ydq.1 - 0 622 c.524C>T c.(523-525)tCc>tTc p.S175F SLC7A13_uc003ydr.1_Missense_Mutation_p.S175F NM_138817 NP_620172 Q8TCU3 S7A13_HUMAN Homo sapiens solute carrier family 7 (anionic amino acid transporter), member 13 (SLC7A13), mRNA. 175 integral to membrane amino acid transmembrane transporter activity breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(3) 45 TCCAGTTAGGGAAATGAAGCT 0.408000 59 55 0 0 1 0 0 PLCXD3 345557 broad.mit.edu 37 5 41382221 41382221 + Silent SNP C T T TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr5:41382221C>T uc003jmm.1 - 1 621 c.519G>A c.(517-519)gcG>gcA p.A173A NM_001005473 NP_001005473 Q63HM9 PLCX3_HUMAN Homo sapiens phosphatidylinositol-specific phospholipase C, X domain containing 3 (PLCXD3), mRNA. 173 PI-PLC X-box. intracellular signal transduction|lipid catabolic process phospholipase C activity|signal transducer activity central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 37 GGGCAAAAATCGCTGGGCACA 0.428000 95 58 0 0 1 0 0 LRRCC1 85444 broad.mit.edu 37 8 86044157 86044157 + Silent SNP C T T TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr8:86044157C>T uc003ycw.3 + 11 2137 c.1929C>T c.(1927-1929)ttC>ttT p.F643F LRRCC1_uc010lzz.2_Non-coding_Transcript|LRRCC1_uc022awx.1_Silent_p.F550F|LRRCC1_uc010maa.2_Silent_p.F344F|LRRCC1_uc003ycy.3_Silent_p.F623F NM_033402 NP_208325 Q9C099 LRCC1_HUMAN Homo sapiens leucine rich repeat and coiled-coil domain containing 1 (LRRCC1), mRNA. 643 cell division|mitosis centriole|nucleus breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2) 43 AAAATGAATTCCGTATTGCTT 0.333000 34 18 0 0 1 0 0 TEKT4 150483 broad.mit.edu 37 2 95537633 95537634 + Missense_Mutation DNP GG AA AA rs111669261 by1000genomes TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr2:95537633_95537634GG>AA uc002stw.1 + 0 402_403 c.309_310GG>AA c.(307-312)tcggag>tcAAag p.E104K LOC442028_uc021vlc.1_Non-coding_Transcript|LOC442028_uc002stv.1_Intron|TEKT4_uc010fhr.1_Non-coding_Transcript NM_144705 NP_653306 Q8WW24 TEKT4_HUMAN Homo sapiens tektin 4 (TEKT4), mRNA. 104 cell projection organization|microtubule cytoskeleton organization cilium axoneme|flagellar axoneme|microtubule p.S103S(2) NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 28 GCTGGAAGTCGGAGCTGCAGCG 0.678000 18 13 0 0 1 0 0 ITIH2 3698 broad.mit.edu 37 10 7769001 7769001 + Nonsense_Mutation SNP G A A TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr10:7769001G>A uc001ijs.3 + 9 1235 c.1073G>A c.(1072-1074)tGg>tAg p.W358* NM_002216 NP_002207 P19823 ITIH2_HUMAN Homo sapiens inter-alpha-trypsin inhibitor heavy chain 2 (ITIH2), mRNA. 358 VWFA. hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 64 ATTCGAACTTGGAGAAATGAT 0.403000 41 38 0 0 1 0 0 TECTA 7007 broad.mit.edu 37 11 121023723 121023723 + Silent SNP C T T TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr11:121023723C>T uc010rzo.2 + 11 4239 c.4239C>T c.(4237-4239)gtC>gtT p.V1413V NM_005422 NP_005413 O75443 TECTA_HUMAN Homo sapiens tectorin alpha (TECTA), mRNA. 1413 TIL 3. cell-matrix adhesion|sensory perception of sound anchored to membrane|plasma membrane|proteinaceous extracellular matrix TECTA/TBCEL(2) NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 135 all_hematologic(175;0.208) Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166) CTGGCTACGTCCTCAACGGCA 0.637000 43 32 0 0 1 0 0 ZNF669 79862 broad.mit.edu 37 1 247265089 247265089 + Silent SNP G A A TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr1:247265089G>A uc001ice.2 - 2 566 c.393C>T c.(391-393)agC>agT p.S131S ZNF669_uc001icf.2_Silent_p.S45S NM_024804 NP_079080 Q96BR6 ZN669_HUMAN Homo sapiens zinc finger protein 669 (ZNF669), transcript variant 1, mRNA. 131 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.G130V(2)|p.G130G(1) breast(2)|endometrium(3)|kidney(4)|large_intestine(2)|lung(6) 17 all_cancers(71;4.09e-05)|all_epithelial(71;6.72e-06)|Breast(184;0.0226)|Ovarian(71;0.0283)|all_lung(81;0.0488)|Lung NSC(105;0.053) OV - Ovarian serous cystadenocarcinoma(106;0.00427) CTTTCCATTGGCTTCCTAAAA 0.363000 50 14 0 0 1 0 0 GRN 2896 broad.mit.edu 37 17 42428086 42428086 + Missense_Mutation SNP C T T TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr17:42428086C>T uc002igp.1 + 6 845 c.626C>T c.(625-627)cCg>cTg p.P209L GRN_uc002igq.1_3'UTR NM_002087 NP_002078 P28799 GRN_HUMAN Homo sapiens granulin (GRN), mRNA. 209 signal transduction extracellular space cytokine activity|growth factor activity central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.189) GTCATGTGTCCGGACGCACGG 0.597000 OREG0024459 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 64 55 0 0 1 0 0 TTC3 7267 broad.mit.edu 37 21 38525559 38525559 + Nonsense_Mutation SNP C T T TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr21:38525559C>T uc002yvz.3 + 26 2827 c.2722C>T c.(2722-2724)Caa>Taa p.Q908* TTC3_uc011aee.1_Nonsense_Mutation_p.Q598*|TTC3_uc002ywa.3_Nonsense_Mutation_p.Q908*|TTC3_uc002ywb.3_Nonsense_Mutation_p.Q908*|TTC3_uc010gnf.3_Nonsense_Mutation_p.Q673*|TTC3_uc002ywc.3_Nonsense_Mutation_p.Q598*|TTC3_uc011aed.1_Nonsense_Mutation_p.Q598* NM_001001894 NP_003307 P53804 TTC3_HUMAN Homo sapiens tetratricopeptide repeat domain 3 (TTC3), transcript variant 2, mRNA. 908 protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process nucleus protein binding|ubiquitin-protein ligase activity|zinc ion binding breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5) 75 Myeloproliferative disorder(46;0.0412) CGCCTGGATCCAAAAACTTAA 0.383000 38 27 0 0 1 0 0 OR9Q1 219956 broad.mit.edu 37 11 57946977 57946977 + Missense_Mutation SNP C T T TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr11:57946977C>T uc021qjm.1 + 0 61 c.61C>T c.(61-63)Cct>Tct p.P21S OR9Q1_uc001nmj.3_Missense_Mutation_p.P21S NM_001005212 NP_001005212 Q8NGQ5 OR9Q1_HUMAN Homo sapiens olfactory receptor, family 9, subfamily Q, member 1 (OR9Q1), mRNA. 21 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 26 Breast(21;0.222) CACTGAATATCCTGAATGGGC 0.448000 68 68 0 0 1 0 0 CHD5 26038 broad.mit.edu 37 1 6204140 6204140 + Silent SNP G A A TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr1:6204140G>A uc001amb.2 - 11 1989 c.1878C>T c.(1876-1878)atC>atT p.I626I CHD5_uc001ama.2_Non-coding_Transcript|CHD5_uc001amc.1_Non-coding_Transcript NM_015557 NP_056372 Q8TDI0 CHD5_HUMAN Homo sapiens chromodomain helicase DNA binding protein 5 (CHD5), mRNA. 626 Chromo 2. chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2) 16 Ovarian(185;0.0634) all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15) Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193) CGATGTCATCGATCTCCCAGG 0.592000 28 114 0 0 1 0 0 SOX17 64321 broad.mit.edu 37 8 55371774 55371774 + Missense_Mutation SNP T C C TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr8:55371774T>C uc003xsb.4 + 1 668 c.464T>C c.(463-465)tTc>tCc p.F155S NM_022454 NP_071899 Q9H6I2 SOX17_HUMAN Homo sapiens SRY (sex determining region Y)-box 17 (SOX17), mRNA. 155 Wnt receptor signaling pathway|angiogenesis|cardiac cell fate determination|endocardial cell differentiation|endocardium formation|endoderm formation|heart formation|heart looping|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell growth|outflow tract morphogenesis|positive regulation of transcription, DNA-dependent|protein destabilization|protein stabilization|regulation of embryonic development|renal system development|vasculogenesis transcription factor complex beta-catenin binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription factor binding|transcription regulatory region DNA binding endometrium(6)|kidney(1)|large_intestine(3)|lung(7)|prostate(1) 18 Lung NSC(129;0.109)|all_epithelial(80;0.176)|all_lung(136;0.181) OV - Ovarian serous cystadenocarcinoma(7;1.9e-07)|Epithelial(17;1.7e-05)|all cancers(17;0.000159) GAGGGCGGCTTCCTGCACGGC 0.741000 13 6 0 0 1 0 0 ZNF121 7675 broad.mit.edu 37 19 9677524 9677524 + Missense_Mutation SNP C T T TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr19:9677524C>T uc010xkp.1 - 3 497 c.265G>A c.(265-267)Gaa>Aaa p.E89K ZNF121_uc010dwt.2_Missense_Mutation_p.E89K|ZNF121_uc010xkq.1_Missense_Mutation_p.E89K NM_001008727 NP_001008727 P58317 ZN121_HUMAN Homo sapiens zinc finger protein 121 (ZNF121), mRNA. 89 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|kidney(4)|large_intestine(8)|lung(6)|ovary(2)|prostate(1) 24 TCACTGTATTCAAAGGATTTG 0.448000 51 33 0 0 1 0 0 MYH11 4629 broad.mit.edu 37 16 15835403 15835403 + Nonsense_Mutation SNP C A A TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr16:15835403C>A uc002ddx.3 - 22 2904 c.2797G>T c.(2797-2799)Gag>Tag p.E933* MYH11_uc002ddv.3_Nonsense_Mutation_p.E933*|MYH11_uc002ddw.3_Nonsense_Mutation_p.E926*|MYH11_uc002ddy.3_Nonsense_Mutation_p.E926*|MYH11_uc010bvg.3_Nonsense_Mutation_p.E758* NM_001040114 NP_001035203 P35749 MYH11_HUMAN Homo sapiens myosin, heavy chain 11, smooth muscle (MYH11), transcript variant SM1B, mRNA. 926 axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction cytosol|melanosome|muscle myosin complex|myosin filament ATP binding|actin binding|calmodulin binding|motor activity|structural constituent of muscle p.E932E(1) NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1) 123 GCCTCCATCTCATGCAGTATC 0.607000 T CBFB AML 162 121 1.34936e-44 1.37606e-44 1 1 0 CHRNE 1145 broad.mit.edu 37 17 4805556 4805556 + Silent SNP G A A TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr17:4805556G>A uc002fzk.1 - 3 311 c.300C>T c.(298-300)gtC>gtT p.V100V C17orf107_uc002fzl.3_3'UTR NM_000080 NP_000071 Q04844 ACHE_HUMAN Homo sapiens cholinergic receptor, nicotinic, epsilon (CHRNE), mRNA. 100 muscle contraction|synaptic transmission, cholinergic cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity p.R99*(1) central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(3)|prostate(1) 12 GTTCTGAAGGGACTCGCAGGG 0.612000 113 93 0 0 1 0 0 DHODH 1723 broad.mit.edu 37 16 72055179 72055179 + Missense_Mutation SNP G A A TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr16:72055179G>A uc002fbp.3 + 4 695 c.674G>A c.(673-675)gGa>gAa p.G225E NM_001361 NP_001352 Q02127 PYRD_HUMAN Homo sapiens dihydroorotate dehydrogenase (quinone) (DHODH), nuclear gene encoding mitochondrial protein, mRNA. 225 'de novo' pyrimidine base biosynthetic process|UMP biosynthetic process|pyrimidine nucleoside biosynthetic process integral to membrane|mitochondrial inner membrane dihydroorotate oxidase activity breast(1)|endometrium(2)|large_intestine(4)|ovary(1)|skin(1)|stomach(1) 10 Ovarian(137;0.125) Atovaquone(DB01117)|Leflunomide(DB01097) AGCCTTCAGGGAAAGGCCGAG 0.672000 16 12 0 0 1 0 0 SPAG16 79582 broad.mit.edu 37 2 214354720 214354721 + Missense_Mutation DNP CC TT TT TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr2:214354720_214354721CC>TT uc002veq.3 + 9 1068_1069 c.976_977CC>TT c.(976-978)cca>TTa p.P326L SPAG16_uc010fuz.2_Missense_Mutation_p.P177L|SPAG16_uc002ver.3_Missense_Mutation_p.P272L|SPAG16_uc010zjk.2_Missense_Mutation_p.P232L NM_024532 NP_078808 Q8N0X2 SPG16_HUMAN Homo sapiens sperm associated antigen 16 (SPAG16), transcript variant 1, mRNA. 326 cilium assembly cilium axoneme|flagellar axoneme endometrium(4)|kidney(1)|large_intestine(15)|lung(27)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 56 Renal(323;0.00461) UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599) GCAACCAAATCCAAACCTGAAT 0.351000 19 22 0 0 1 0 0 ERN2 10595 broad.mit.edu 37 16 23702456 23702456 + Silent SNP C T T TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr16:23702456C>T uc002dma.4 - 20 2875 c.2706G>A c.(2704-2706)agG>agA p.R902R ERN2_uc010bxp.3_Silent_p.R850R NM_033266 NP_150296 Q76MJ5 ERN2_HUMAN Homo sapiens endoplasmic reticulum to nucleus signaling 2 (ERN2), mRNA. 854 KEN. apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent endoplasmic reticulum membrane|integral to membrane ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity large_intestine(2)|lung(2)|ovary(2) 6 GBM - Glioblastoma multiforme(48;0.0156) ATACCTTGTTCCTCACAGCAC 0.582000 176 129 0 0 1 0 0 GPR65 8477 broad.mit.edu 37 14 88477276 88477276 + Missense_Mutation SNP A C C TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr14:88477276A>C uc021rxh.1 + 0 85 c.85A>C c.(85-87)Att>Ctt p.I29L GPR65_uc001xvv.3_Missense_Mutation_p.I29L NM_003608 NP_003599 Q8IYL9 PSYR_HUMAN Homo sapiens G protein-coupled receptor 65 (GPR65), mRNA. 29 actin cytoskeleton reorganization|activation of Rho GTPase activity|apoptosis|immune response|multicellular organismal development|positive regulation of cAMP biosynthetic process|positive regulation of stress fiber assembly|response to acidity integral to plasma membrane G-protein coupled receptor activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(1) 16 TATAGTCAGCATTCCAGCCAA 0.368000 36 33 0 0 1 0 0 VRTN 55237 broad.mit.edu 37 14 74824579 74824579 + Missense_Mutation SNP C T T TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr14:74824579C>T uc021rwl.1 + 0 1093 c.1093C>T c.(1093-1095)Ccc>Tcc p.P365S VRTN_uc001xpw.4_Missense_Mutation_p.P365S NM_018228 NP_060698 Q9H8Y1 VRTN_HUMAN Homo sapiens vertebrae development homolog (pig) (VRTN), mRNA. 365 transposition, DNA-mediated DNA binding|transposase activity NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1) 41 GGCCTTGCCCCCCAGGGAGGT 0.652000 43 30 0 0 1 0 0 FBXL14 144699 broad.mit.edu 37 12 1702919 1702919 + Missense_Mutation SNP T A A TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr12:1702919T>A uc001qjh.3 - 0 413 c.314A>T c.(313-315)gAc>gTc p.D105V WNT5B_uc009zdq.3_Intron NM_152441 NP_689654 Q8N1E6 FXL14_HUMAN Homo sapiens F-box and leucine-rich repeat protein 14 (FBXL14), mRNA. 105 cytoplasm endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1) 8 Ovarian(42;0.107) OV - Ovarian serous cystadenocarcinoma(31;0.00115) CAGCCCGTTGTCGGTGAGGTT 0.637000 70 61 0 0 1 0 0 HACE1 57531 broad.mit.edu 37 6 105198250 105198250 + Missense_Mutation SNP G A A TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr6:105198250G>A uc003pqu.1 - 19 2586 c.2309C>T c.(2308-2310)cCc>cTc p.P770L HACE1_uc010kcy.1_Missense_Mutation_p.P252L|HACE1_uc010kcz.1_Missense_Mutation_p.P555L|HACE1_uc010kcx.1_Missense_Mutation_p.P179L|HACE1_uc003pqt.1_Missense_Mutation_p.P423L NM_020771 NP_065822 Q8IYU2 HACE1_HUMAN Homo sapiens HECT domain and ankyrin repeat containing, E3 ubiquitin protein ligase 1 (HACE1), mRNA. 770 HECT. protein ubiquitination involved in ubiquitin-dependent protein catabolic process endoplasmic reticulum ubiquitin-protein ligase activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2) 44 all_cancers(87;6.89e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0216)|Colorectal(196;0.202) BRCA - Breast invasive adenocarcinoma(108;0.122)|Epithelial(106;0.204) TATGAGGGAGGGTGGAATGAA 0.388000 16 8 0 0 1 0 0 TRIM48 79097 broad.mit.edu 37 11 55033125 55033125 + Missense_Mutation SNP A T T TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr11:55033125A>T uc010rid.2 + 2 595 c.509A>T c.(508-510)aAt>aTt p.N170I NM_024114 NP_077019 Q8IWZ4 TRI48_HUMAN Homo sapiens tripartite motif containing 48 (TRIM48), mRNA. 154 intracellular zinc ion binding p.K169N(1) endometrium(13)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 38 GCTTGTGAAAATCAGAGAAAC 0.408000 3 23 0 0 1 0 0 ZNF142 7701 broad.mit.edu 37 2 219507792 219507793 + Missense_Mutation DNP GG AA AA rs150124453 by1000genomes TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr2:219507792_219507793GG>AA uc002vin.3 - 7 3882_3883 c.3446_3447CC>TT c.(3445-3447)gcc>gTT p.A1149V ZNF142_uc002vil.3_Missense_Mutation_p.A1110V|ZNF142_uc010fvt.3_Missense_Mutation_p.A986V|ZNF142_uc002vim.3_Missense_Mutation_p.A986V NM_001105537 NP_001099007 P52746 ZN142_HUMAN Homo sapiens zinc finger protein 142 (ZNF142), mRNA. 1149 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 38 Renal(207;0.0474) Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948) GGAGCCTTAAGGCAGTGGCAGC 0.649000 19 28 0 0 1 0 0 PTPRE 5791 broad.mit.edu 37 10 129869092 129869092 + Silent SNP C T T TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr10:129869092C>T uc009yat.3 + 15 1764 c.1347C>T c.(1345-1347)atC>atT p.I449I PTPRE_uc001lkb.3_Silent_p.I438I|PTPRE_uc009yau.2_Silent_p.I438I|PTPRE_uc001lkd.3_Silent_p.I380I|PTPRE_uc010quq.1_Silent_p.I339I NM_006504 NP_006495 P23469 PTPRE_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, E (PTPRE), transcript variant 1, mRNA. 438 Tyrosine-protein phosphatase 2. negative regulation of insulin receptor signaling pathway|protein phosphorylation cytoplasm|integral to membrane|intermediate filament cytoskeleton|nucleus|plasma membrane transmembrane receptor protein tyrosine phosphatase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 22 all_epithelial(44;1.66e-05)|all_lung(145;0.00456)|Lung NSC(174;0.0066)|all_neural(114;0.0936)|Colorectal(57;0.141)|Breast(234;0.166)|Melanoma(40;0.203) ATGTCCGGATCATGAAGGAGA 0.527000 36 29 0 0 1 0 0 SP140 11262 broad.mit.edu 37 2 231108466 231108466 + Missense_Mutation SNP G A A TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr2:231108466G>A uc002vql.3 + 4 626 c.511G>A c.(511-513)Gaa>Aaa p.E171K SP140_uc010zma.1_Non-coding_Transcript|SP140_uc002vqk.2_Missense_Mutation_p.E171K|SP140_uc002vqn.3_Missense_Mutation_p.E171K|SP140_uc002vqm.3_Missense_Mutation_p.E171K|SP140_uc010fxl.3_Missense_Mutation_p.E171K NM_007237 NP_009168 Q13342 LY10_HUMAN Homo sapiens SP140 nuclear body protein (SP140), transcript variant 1, mRNA. 171 defense response cytoplasm|nuclear envelope|nucleolus|nucleoplasm DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1) 12 Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167) Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942) TGCCTGTCATGAAATGGATGA 0.458000 9 46 0 0 1 0 0 GOLGA6L1 283767 broad.mit.edu 37 15 22742594 22742594 + Missense_Mutation SNP G A A TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr15:22742594G>A uc010tzx.1 + 7 1070 c.979G>A c.(979-981)Gag>Aag p.E327K abParts_uc001yuj.2_Intron|DQ579907_uc010tzy.1_5'Flank NM_001001413 NP_001001413 Homo sapiens golgin A6 family-like 1 (GOLGA6L1), mRNA. NS(1)|breast(2)|endometrium(5)|large_intestine(1)|lung(1)|skin(1) 11 acgggagcaggaggagaagat 0.562000 1 2 0 0 1 0 0 RYR2 6262 broad.mit.edu 37 1 237765349 237765349 + Missense_Mutation SNP C T T TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr1:237765349C>T uc001hyl.1 + 34 4741 c.4621C>T c.(4621-4623)Cct>Tct p.P1541S NM_001035 NP_001026 Q92736 RYR2_HUMAN Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA. 1541 4 X approximate repeats.|B30.2/SPRY 3. 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) AAAATTATTTCCTGCGGTTTT 0.299000 15 11 0 0 1 0 0 CCDC27 148870 broad.mit.edu 37 1 3683112 3683112 + Missense_Mutation SNP G A A TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr1:3683112G>A uc001akv.2 + 8 1547 c.1466G>A c.(1465-1467)cGa>cAa p.R489Q NM_152492 NP_689705 Q2M243 CCD27_HUMAN Homo sapiens coiled-coil domain containing 27 (CCDC27), mRNA. 489 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) TCCAACCTCCGAGAAGATAAG 0.502000 39 19 0 0 1 0 0 CCNK 8812 broad.mit.edu 37 14 99968710 99968710 + Missense_Mutation SNP G A A TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr14:99968710G>A uc001ygi.4 + 6 872 c.742G>A c.(742-744)Gaa>Aaa p.E248K NM_001099402 NP_001092872 O75909 CCNK_HUMAN Homo sapiens cyclin K (CCNK), mRNA. 248 cell division|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter protein kinase binding NS(1)|endometrium(2)|lung(3) 6 all_cancers(154;0.224)|all_epithelial(191;0.0643)|Melanoma(154;0.0866) CGACGTTTTGGAAGGTACCAG 0.463000 13 18 0 0 1 0 0 ARID4A 5926 broad.mit.edu 37 14 58785519 58785519 + Missense_Mutation SNP C T T TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr14:58785519C>T uc001xdp.3 + 6 699 c.445C>T c.(445-447)Cct>Tct p.P149S ARID4A_uc001xdo.3_Missense_Mutation_p.P149S|ARID4A_uc001xdq.3_Missense_Mutation_p.P149S NM_002892 NP_002883 P29374 ARI4A_HUMAN Homo sapiens AT rich interactive domain 4A (RBP1-like) (ARID4A), transcript variant 1, mRNA. 149 negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter transcriptional repressor complex DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(2)|central_nervous_system(1)|cervix(4)|endometrium(8)|kidney(2)|large_intestine(14)|lung(19)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 ATCTTCTCTTCCTGTGTGAGT 0.343000 25 14 0 0 1 0 0 RP1 6101 broad.mit.edu 37 8 55542857 55542857 + Missense_Mutation SNP G A A TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr8:55542857G>A uc003xsd.1 + 3 6563 c.6415G>A c.(6415-6417)Gaa>Aaa p.E2139K RP1_uc011ldy.1_Intron NM_006269 NP_006260 P56715 RP1_HUMAN Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA. 2139 axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2) 169 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) TTGGGAAGAGGAAGACATATT 0.303000 19 21 0 0 1 0 0 MRPL45P2 653479 broad.mit.edu 37 17 45534151 45534151 + RNA SNP G A A TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr17:45534151G>A uc002ilp.2 - 4 c.643C>T MRPL45P2_uc002ilq.3_Non-coding_Transcript Homo sapiens mitochondrial ribosomal protein L45 pseudogene 2 (MRPL45P2), non-coding RNA. CACATCTCATGGGCCCAACCT 0.333000 11 3 0 0 1 0 0 MCHR2 84539 broad.mit.edu 37 6 100390977 100390977 + Missense_Mutation SNP T G G TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr6:100390977T>G uc003pqh.1 - 3 750 c.435A>C c.(433-435)agA>agC p.R145S MCHR2_uc003pqi.1_Missense_Mutation_p.R145S NM_001040179 NP_115892 Q969V1 MCHR2_HUMAN Homo sapiens melanin-concentrating hormone receptor 2 (MCHR2), transcript variant 1, mRNA. 145 integral to membrane|plasma membrane G-protein coupled receptor activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 39 all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069) BRCA - Breast invasive adenocarcinoma(108;0.0429) TGTACCTTGTTCTCCAACGTG 0.473000 87 87 0 0 1 0 0 ADAM23 8745 broad.mit.edu 37 2 207459551 207459551 + Silent SNP G A A TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr2:207459551G>A uc002vbq.3 + 22 2392 c.2169G>A c.(2167-2169)cgG>cgA p.R723R ADAM23_uc010ziv.2_Non-coding_Transcript NM_003812 NP_003803 O75077 ADA23_HUMAN Homo sapiens ADAM metallopeptidase domain 23 (ADAM23), mRNA. 723 cell adhesion|central nervous system development|proteolysis extracellular region|integral to plasma membrane integrin binding|metalloendopeptidase activity|zinc ion binding NS(2)|breast(1)|endometrium(6)|kidney(3)|large_intestine(5)|liver(2)|lung(22)|ovary(2)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1) 51 LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205) GTTTAGATCGGAAGTGCCTAC 0.458000 54 43 0 0 1 0 0 MYO3B 140469 broad.mit.edu 37 2 171258175 171258175 + Silent SNP A C C TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr2:171258175A>C uc002ufy.3 + 17 2246 c.2103A>C c.(2101-2103)acA>acC p.T701T MYO3B_uc002ufv.3_Silent_p.T688T|MYO3B_uc010fqb.1_Silent_p.T701T|MYO3B_uc002ufz.3_Silent_p.T701T|MYO3B_uc002ufw.3_Non-coding_Transcript|MYO3B_uc002ufx.3_Non-coding_Transcript|MYO3B_uc002ugb.3_Non-coding_Transcript NM_138995 NP_620482 Q8WXR4 MYO3B_HUMAN Homo sapiens myosin IIIB (MYO3B), transcript variant 2, mRNA. 701 Myosin head-like. response to stimulus|visual perception cytoplasm|myosin complex ATP binding|actin binding|motor activity|protein serine/threonine kinase activity breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 59 GCATTAATACACTCCTGCAGC 0.537000 39 21 0 0 1 0 0 BC043541 0 broad.mit.edu 37 1 43353338 43353338 + RNA SNP G A A TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr1:43353338G>A uc001cij.1 + 3 c.1240G>A Homo sapiens cDNA clone IMAGE:5170739. CCAGACACAGGAGCCACATGA 0.697000 5 5 0 0 1 0 0 GABBR1 2550 broad.mit.edu 37 6 29581098 29581098 + Silent SNP C T T TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr6:29581098C>T uc003nmt.4 - 11 1824 c.1488G>A c.(1486-1488)gaG>gaA p.E496E GABBR1_uc003nmp.4_Silent_p.E379E|GABBR1_uc003nms.4_Silent_p.E379E|GABBR1_uc003nmu.4_Silent_p.E434E|GABBR1_uc011dlr.2_Silent_p.E319E|GABBR1_uc011dls.1_Silent_p.E496E NM_001470 NP_001461 Q9UBS5 GABR1_HUMAN Homo sapiens gamma-aminobutyric acid (GABA) B receptor, 1 (GABBR1), transcript variant 1, mRNA. 496 gamma-aminobutyric acid signaling pathway|negative regulation of adenylate cyclase activity|synaptic transmission cell junction|extracellular region|integral to plasma membrane|postsynaptic membrane G-protein coupled receptor activity|GABA-B receptor activity endometrium(3)|kidney(1)|large_intestine(13)|liver(1)|lung(16)|ovary(5)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 Baclofen(DB00181)|Progabide(DB00837) AGTTGAAGTCCTCCAGGCGCA 0.542000 98 83 0 0 1 0 0 OR8B8 26493 broad.mit.edu 37 11 124310604 124310604 + Silent SNP G A A TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr11:124310604G>A uc010sal.2 - 0 378 c.378C>T c.(376-378)atC>atT p.I126I NM_012378 NP_036510 Q15620 OR8B8_HUMAN Homo sapiens olfactory receptor, family 8, subfamily B, member 8 (OR8B8), mRNA. 126 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277) GTGGGTTACAGATGGCCACAT 0.507000 37 42 0 0 1 0 0 NLRC5 84166 broad.mit.edu 37 16 57075478 57075479 + Missense_Mutation DNP CC TT TT TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr16:57075478_57075479CC>TT uc021tiu.1 + 16 3148_3149 c.3021_3022CC>TT c.(3019-3024)ctccac>ctTTac p.H1008Y NLRC5_uc010ccq.1_Non-coding_Transcript|NLRC5_uc021tiv.1_Missense_Mutation_p.H813Y|NLRC5_uc021tiw.1_Missense_Mutation_p.H813Y|NLRC5_uc010ccr.1_Non-coding_Transcript|NLRC5_uc010ccs.1_Non-coding_Transcript|NLRC5_uc002eko.1_Non-coding_Transcript|NLRC5_uc002ekq.1_5'Flank NM_032206 NP_115582 Q86WI3 NLRC5_HUMAN Homo sapiens NLR family, CARD domain containing 5 (NLRC5), mRNA. 1008 defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity cytosol|nucleus ATP binding|RNA polymerase II core promoter sequence-specific DNA binding|protein binding p.H1008Q(1) NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 75 all_neural(199;0.225) TCGGTCACCTCCACCTCGAGTG 0.515000 54 34 0 0 1 0 0 VIP 7432 broad.mit.edu 37 6 153075413 153075413 + Missense_Mutation SNP G A A TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr6:153075413G>A uc003qpe.3 + 2 392 c.220G>A c.(220-222)Gat>Aat p.D74N VIP_uc003qpf.3_Missense_Mutation_p.D74N|VIP_uc010kjd.3_Missense_Mutation_p.D74N NM_003381 NP_003372 P01282 VIP_HUMAN Homo sapiens vasoactive intestinal peptide (VIP), transcript variant 1, mRNA. 74 G-protein coupled receptor protein signaling pathway|body fluid secretion|positive regulation of cell proliferation extracellular region neuropeptide hormone activity haematopoietic_and_lymphoid_tissue(1)|lung(4)|skin(1) 6 Ovarian(120;0.0654) OV - Ovarian serous cystadenocarcinoma(155;4.5e-11)|BRCA - Breast invasive adenocarcinoma(81;0.144) ACCCTATTATGATGTATCCAG 0.308000 23 16 0 0 1 0 0 DSG4 147409 broad.mit.edu 37 18 28972252 28972252 + Silent SNP C T T TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr18:28972252C>T uc002kwr.2 + 7 1089 c.954C>T c.(952-954)ttC>ttT p.F318F DSG4_uc002kwq.2_Silent_p.F318F NM_001134453 NP_001127925 Q86SJ6 DSG4_HUMAN Homo sapiens desmoglein 4 (DSG4), transcript variant 1, mRNA. 318 Cadherin 3. Missing (in LAH1). homophilic cell adhesion desmosome|integral to membrane calcium ion binding NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1) 70 OV - Ovarian serous cystadenocarcinoma(10;0.00504) GGAATTGGTTCGATATTCAAA 0.348000 26 24 0 0 1 0 0 OR5AR1 219493 broad.mit.edu 37 11 56431445 56431445 + Missense_Mutation SNP C T T TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr11:56431445C>T uc010rjm.2 + 0 284 c.284C>T c.(283-285)tCc>tTc p.S95F OR8U8_uc001nit.2_Intron NM_001004730 NP_001004730 Q8NGP9 O5AR1_HUMAN Homo sapiens olfactory receptor, family 5, subfamily AR, member 1 (OR5AR1), mRNA. 95 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(12)|prostate(1)|skin(3)|stomach(1) 26 ATCTCCTTCTCCAGCTGTGCC 0.502000 151 148 0 0 1 0 0 OR4N5 390437 broad.mit.edu 37 14 20612572 20612572 + Silent SNP G A A TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr14:20612572G>A uc010tla.2 + 0 678 c.678G>A c.(676-678)agG>agA p.R226R NM_001004724 NP_001004724 Q8IXE1 OR4N5_HUMAN Homo sapiens olfactory receptor, family 4, subfamily N, member 5 (OR4N5), mRNA. 226 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) GTCGTATAAGGGAGCACTCCT 0.483000 76 74 0 0 1 0 0 GALNTL4 374378 broad.mit.edu 37 11 11470445 11470445 + Missense_Mutation SNP A G G TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr11:11470445A>G uc001mjo.2 - 1 695 c.274T>C c.(274-276)Ttc>Ctc p.F92L NM_198516 NP_940918 Q6P9A2 GLTL4_HUMAN Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 4 (GALNTL4), mRNA. 92 Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 26 all cancers(16;3.67e-05)|Epithelial(150;0.000184) GAGTCTGTGAAGGGCTCGGCC 0.602000 16 11 0 0 1 0 0 SPANXN2 494119 broad.mit.edu 37 X 142795241 142795241 + Missense_Mutation SNP C T T TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chrX:142795241C>T uc004fbz.3 - 1 1191 c.437G>A c.(436-438)gGa>gAa p.G146E NM_001009615 NP_001009615 Q5MJ10 SPXN2_HUMAN Homo sapiens SPANX family, member N2 (SPANXN2), mRNA. 146 p.G146E(4)|p.I24I(2)|p.E145K(1) NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 27 Acute lymphoblastic leukemia(192;6.56e-05) CTGTGAAGATCCTTCAGATGA 0.527000 44 388 0 0 1 0 0 ARNTL2 56938 broad.mit.edu 37 12 27553480 27553480 + Silent SNP C T T TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr12:27553480C>T uc001rht.2 + 9 1152 c.933C>T c.(931-933)ttC>ttT p.F311F ARNTL2_uc001rhu.2_Silent_p.F297F|ARNTL2_uc001rhv.2_Silent_p.F263F|ARNTL2_uc001rhw.3_Silent_p.F274F|ARNTL2_uc010sjp.2_Silent_p.F274F|ARNTL2_uc009zji.2_Silent_p.F277F|BC043511_uc001rhx.3_Intron NM_020183 NP_064568 Q8WYA1 BMAL2_HUMAN Homo sapiens aryl hydrocarbon receptor nuclear translocator-like 2 (ARNTL2), transcript variant 1, mRNA. 311 circadian rhythm|entrainment of circadian clock|regulation of transcription from RNA polymerase II promoter nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity p.K310R(1) breast(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(1)|skin(2)|urinary_tract(1) 21 Colorectal(261;0.0847)|Lung SC(9;0.184) ACAGAAAATTCTATACTATCC 0.289000 28 16 0 0 1 0 0 FRY 10129 broad.mit.edu 37 13 32835912 32835912 + Nonsense_Mutation SNP G T T TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr13:32835912G>T uc001utx.3 + 51 8072 c.7576G>T c.(7576-7578)Gag>Tag p.E2526* FRY_uc010tdw.2_Non-coding_Transcript|FRY_uc001utz.3_Nonsense_Mutation_p.E51*|FRY_uc010tdx.2_5'Flank NM_023037 NP_075463 Q5TBA9 FRY_HUMAN Homo sapiens furry homolog (Drosophila) (FRY), mRNA. 2526 regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to membrane NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 132 Lung SC(185;0.0271) all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104) ATCCGAGGAGGAGGACCTCAC 0.493000 62 27 1.38854e-25 1.41229e-25 1 1 0 NCR1 9437 broad.mit.edu 37 19 55420723 55420723 + Missense_Mutation SNP G A A TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr19:55420723G>A uc002qib.2 + 3 513 c.475G>A c.(475-477)Gga>Aga p.G159R NCR1_uc002qic.2_Missense_Mutation_p.G159R|NCR1_uc002qie.2_Missense_Mutation_p.G159R|NCR1_uc002qid.2_Missense_Mutation_p.G64R|NCR1_uc002qif.2_Missense_Mutation_p.G64R|NCR1_uc010esj.2_Missense_Mutation_p.G52R NM_004829 NP_004820 O76036 NCTR1_HUMAN Homo sapiens natural cytotoxicity triggering receptor 1 (NCR1), transcript variant 1, mRNA. 159 Ig-like 2. cellular defense response|natural killer cell activation|regulation of natural killer cell mediated cytotoxicity SWI/SNF complex|integral to plasma membrane receptor activity|receptor signaling protein activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1) 18 GBM - Glioblastoma multiforme(193;0.0449) GCTCAAGGAGGGAAGATCCAG 0.582000 90 70 0 0 1 0 0 IARS2 55699 broad.mit.edu 37 1 220300168 220300168 + Missense_Mutation SNP G C C TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr1:220300168G>C uc001hmc.3 + 13 1924 c.1820G>C c.(1819-1821)tGg>tCg p.W607S NM_018060 NP_060530 Q9NSE4 SYIM_HUMAN Homo sapiens isoleucyl-tRNA synthetase 2, mitochondrial (IARS2), nuclear gene encoding mitochondrial protein, mRNA. 607 isoleucyl-tRNA aminoacylation mitochondrial matrix ATP binding|isoleucine-tRNA ligase activity NS(1)|breast(1)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(17)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 51 GBM - Glioblastoma multiforme(131;0.0554) L-Isoleucine(DB00167) GGAACTTCATGGTCTTATGTT 0.368000 58 44 0 0 1 0 0 LILRA1 11024 broad.mit.edu 37 19 55107288 55107288 + Silent SNP C T T TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr19:55107288C>T uc002qgh.1 + 5 1028 c.846C>T c.(844-846)ttC>ttT p.F282F LILRA1_uc010yfg.1_Silent_p.F280F|LILRA1_uc010yfh.2_Silent_p.F282F NM_006863 NP_006854 O75019 LIRA1_HUMAN Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1 (LILRA1), mRNA. 282 Ig-like C2-type 3. 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) AGGCCAACTTCACCCTGGGCC 0.627000 104 98 0 0 1 0 0 SPANXN2 494119 broad.mit.edu 37 X 142795319 142795319 + Missense_Mutation SNP C T T TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chrX:142795319C>T uc004fbz.3 - 1 1113 c.359G>A c.(358-360)gGa>gAa p.G120E NM_001009615 NP_001009615 Q5MJ10 SPXN2_HUMAN Homo sapiens SPANX family, member N2 (SPANXN2), mRNA. 120 p.E119K(1) NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 27 Acute lymphoblastic leukemia(192;6.56e-05) CTGTGAAGATCCTTCAGATGA 0.517000 461 41 0 0 1 0 0 POLQ 10721 broad.mit.edu 37 3 121190863 121190863 + Missense_Mutation SNP G A A TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr3:121190863G>A uc003eee.4 - 21 6821 c.6692C>T c.(6691-6693)cCt>cTt p.P2231L POLQ_uc003eed.3_Missense_Mutation_p.P1403L NM_199420 NP_955452 O75417 DPOLQ_HUMAN Homo sapiens polymerase (DNA directed), theta (POLQ), mRNA. 2231 DNA repair|DNA replication nucleoplasm ATP binding|ATP-dependent helicase activity|DNA-directed DNA polymerase activity|damaged DNA binding|single-stranded DNA-dependent ATPase activity NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2) 120 GBM - Glioblastoma multiforme(114;0.0915) CTGTGATACAGGATAGATTCT 0.343000 DNA polymerases (catalytic subunits) 30 28 0 0 1 0 0 OR5L1 219437 broad.mit.edu 37 11 55579128 55579128 + Silent SNP C T T TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr11:55579128C>T uc001nhw.1 + 0 186 c.186C>T c.(184-186)ttC>ttT p.F62F NM_001004738 NP_001004738 Q8NGL2 OR5L1_HUMAN Homo sapiens olfactory receptor, family 5, subfamily L, member 1 (OR5L1), mRNA. 62 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3) 78 all_epithelial(135;0.208) TGTACTTTTTCCTCAGCCACT 0.458000 156 151 0 0 1 0 0 FCRL5 83416 broad.mit.edu 37 1 157497461 157497461 + Missense_Mutation SNP C T T TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr1:157497461C>T uc009wsm.3 - 8 2064 c.1906G>A c.(1906-1908)Gcc>Acc p.A636T FCRL5_uc001fqu.3_Missense_Mutation_p.A636T|FCRL5_uc010phv.1_Missense_Mutation_p.A636T|FCRL5_uc010phw.1_Missense_Mutation_p.A551T NM_001195388 NP_001182317 Q96RD9 FCRL5_HUMAN Homo sapiens Fc receptor-like 5 (FCRL5), transcript variant 2, mRNA. 636 Ig-like C2-type 6. integral to membrane|plasma membrane receptor activity breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 85 all_hematologic(112;0.0378)|Hepatocellular(266;0.178) Prostate(1639;0.231) CCATTGTTGGCCTCACATGAG 0.493000 130 48 0 0 1 0 0 PLCZ1 89869 broad.mit.edu 37 12 18854660 18854660 + Silent SNP C T T TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr12:18854660C>T uc021qvx.1 - 7 1106 c.915G>A c.(913-915)aaG>aaA p.K305K PLCZ1_uc001rdv.4_Silent_p.K201K|PLCZ1_uc001rdw.4_Silent_p.K46K|PLCZ1_uc001rdu.1_Silent_p.K46K|PLCZ1_uc009zil.1_Non-coding_Transcript NM_033123 NP_149114 Q86YW0 PLCZ1_HUMAN Homo sapiens phospholipase C, zeta 1 (PLCZ1), mRNA. 305 intracellular signal transduction|lipid catabolic process|multicellular organismal development nucleus|perinuclear region of cytoplasm calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1) 31 Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241) CATGGGTTTCCTTTAAGGTTC 0.383000 7 16 0 0 1 0 0 MGC70870 403340 broad.mit.edu 37 GL000205.1 116987 116987 + RNA SNP C T T TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chrGL000205.1:116987C>T uc002kgk.4 + 0 c.365C>T Homo sapiens C-terminal binding protein 2 pseudogene (MGC70870), non-coding RNA. GTTTCATCACCTTAAATGGTT 0.478000 7 4 0 0 1 0 0 CTNNA3 29119 broad.mit.edu 37 10 68280441 68280441 + Missense_Mutation SNP G A A TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr10:68280441G>A uc009xpn.1 - 10 1588 c.1465C>T c.(1465-1467)Cat>Tat p.H489Y CTNNA3_uc001jmw.2_Missense_Mutation_p.H489Y|CTNNA3_uc001jmx.4_Missense_Mutation_p.H489Y NM_001127384 NP_037398 Q9UI47 CTNA3_HUMAN Homo sapiens catenin (cadherin-associated protein), alpha 3 (CTNNA3), transcript variant 2, mRNA. 489 cell-cell adhesion actin cytoskeleton|cytoplasm|fascia adherens cadherin binding|structural molecule activity p.H489D(3) breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1) 95 ACATGTATATGATTCTCCCAT 0.363000 38 38 0 0 1 0 0 MYL1 4632 broad.mit.edu 37 2 211159129 211159129 + Silent SNP C T T TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr2:211159129C>T uc002vec.3 - 3 447 c.318G>A c.(316-318)aaG>aaA p.K106K MYL1_uc002veb.3_Silent_p.K62K NM_079420 NP_524144 P05976 MYL1_HUMAN Homo sapiens myosin, light chain 1, alkali; skeletal, fast (MYL1), transcript variant 1f, mRNA. 106 muscle filament sliding|muscle organ development cytosol|muscle myosin complex|sarcomere calcium ion binding|structural constituent of muscle p.K106N(2)|p.A105V(1) breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1) 16 Epithelial(149;0.00573)|Lung(261;0.0422)|LUSC - Lung squamous cell carcinoma(261;0.0444)|all cancers(144;0.057) ACTCAATTTTCTTGGCATTCA 0.378000 33 31 0 0 1 0 0 FCGBP 8857 broad.mit.edu 37 19 40362890 40362890 + Silent SNP G A A TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr19:40362890G>A uc002omp.4 - 31 15188 c.15180C>T c.(15178-15180)ttC>ttT p.F5060F NM_003890 NP_003881 Q9Y6R7 FCGBP_HUMAN Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA. 5060 VWFD 12. extracellular region protein binding NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3) 165 all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06) Epithelial(26;6.25e-23)|all cancers(26;1.13e-20) GGCAGGTCGCGAAGGGGCCCT 0.657000 133 118 0 0 1 0 0 ULK4 54986 broad.mit.edu 37 3 41961208 41961208 + Splice_Site SNP C T T TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr3:41961208C>T uc003ckv.4 - 6 844 c.643_splice c.e6+1 p.G215_splice ULK4_uc003ckw.2_Splice_Site_p.G215_splice|ULK4_uc003ckx.1_Splice_Site_p.G215_splice NM_017886 NP_060356 Q96C45 ULK4_HUMAN Homo sapiens unc-51-like kinase 4 (C. elegans) (ULK4), mRNA. 215 Protein kinase. ATP binding|protein serine/threonine kinase activity breast(2)|cervix(1)|large_intestine(6)|lung(7)|prostate(5)|skin(1) 22 KIRC - Kidney renal clear cell carcinoma(284;0.214) GAAACAATTACCTGAAAACAT 0.393000 129 83 0 0 1 0 0 PCSK6 5046 broad.mit.edu 37 15 101853490 101853490 + Silent SNP G A A rs80278342 by1000genomes TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr15:101853490G>A uc002bxa.2 - 20 3101 c.2787C>T c.(2785-2787)gcC>gcT p.A929A PCSK6_uc010bpd.3_Intron|PCSK6_uc002bwy.3_Intron|PCSK6_uc010bpe.3_Intron|PCSK6_uc002bxb.2_Silent_p.A916A NM_138320 NP_612193 P29122 PCSK6_HUMAN Homo sapiens proprotein convertase subtilisin/kexin type 6 (PCSK6), transcript variant 7, mRNA. 0 CRM (Cys-rich motif). glycoprotein metabolic process|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|regulation of BMP signaling pathway|secretion by cell Golgi lumen|cell surface|endomembrane system|endoplasmic reticulum|extracellular matrix|extracellular space|membrane|soluble fraction eukaryotic cell surface binding|heparin binding|nerve growth factor binding|serine-type endopeptidase activity breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505) OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23) TGCCCTCCCCGGCCCCTGGGG 0.607000 24 16 0 0 1 0 0 PLCL2 23228 broad.mit.edu 37 3 17051422 17051422 + Missense_Mutation SNP G A A TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr3:17051422G>A uc011awc.2 + 2 656 c.560G>A c.(559-561)aGa>aAa p.R187K PLCL2_uc010het.1_Missense_Mutation_p.R69K|PLCL2_uc011awd.2_Missense_Mutation_p.R69K NM_001144382 NP_001137854 Q9UPR0 PLCL2_HUMAN Homo sapiens phospholipase C-like 2 (PLCL2), transcript variant 1, mRNA. 195 PH. intracellular signal transduction|lipid metabolic process cytoplasm calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1) 43 AAGGAAGTGAGAACAGGAAAA 0.408000 68 57 0 0 1 0 0 PHF17 79960 broad.mit.edu 37 4 129782942 129782942 + Silent SNP G A A TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr4:129782942G>A uc011cgy.2 + 8 1379 c.1065G>A c.(1063-1065)gaG>gaA p.E355E PHF17_uc003igj.3_Silent_p.E355E|PHF17_uc003igk.3_Silent_p.E355E|PHF17_uc003igl.3_Silent_p.E343E|PHF17_uc003igm.3_Silent_p.E355E NM_199320 NP_955352 Q6IE81 JADE1_HUMAN Homo sapiens PHD finger protein 17 (PHF17), transcript variant L, mRNA. 355 apoptosis|histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation|negative regulation of cell growth|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent histone acetyltransferase complex|mitochondrion protein binding|zinc ion binding NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 29 TCTTAGCAGAGAATGATGAAG 0.527000 151 126 0 0 1 0 0 CCDC73 493860 broad.mit.edu 37 11 32636409 32636409 + Silent SNP G A A TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr11:32636409G>A uc001mtv.3 - 15 1499 c.1455C>T c.(1453-1455)tcC>tcT p.S485S NM_001008391 NP_001008392 Q6ZRK6 CCD73_HUMAN Homo sapiens coiled-coil domain containing 73 (CCDC73), mRNA. 485 NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2) 51 Breast(20;0.112) TTTTGCTTAAGGAGATTTCAC 0.338000 32 15 0 0 1 0 0 RRP36 88745 broad.mit.edu 37 6 42989414 42989419 + In_Frame_Del DEL GCCGGG - - rs60664426 TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr6:42989414_42989419delGCCGGG uc003otp.1 + 0 30_35 c.22_27delGCCGGG c.(22-27)gccgggdel p.AG14del NM_033112 NP_149103 Q96EU6 RRP36_HUMAN Homo sapiens ribosomal RNA processing 36 homolog (S. cerevisiae) (RRP36), mRNA. 14 rRNA processing|ribosomal small subunit biogenesis nucleolus p.A8_G9delAG(2) NS(1)|breast(1)|central_nervous_system(1)|large_intestine(5)|lung(1)|ovary(1)|prostate(1) 11 TAACTAccgcgccggggccggggccg 0.777 --- 4 --- --- 3 --- LOC100507462 100507462 broad.mit.edu 37 6 139094677 139094677 + Frame_Shift_Del DEL G - - TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr6:139094677delG uc003qid.2 - 0 140 c.11delC c.(10-12)cctfs p.P4fs CCDC28A_uc003qie.3_5'UTR NM_001242740 NP_001229669 Homo sapiens uncharacterized LOC100507462 (LOC100507462), mRNA. CTTCCGGAAAGGGTACTGCAT 0.577 --- 31 --- --- 10 --- TRRAP 8295 broad.mit.edu 37 7 98574607 98574609 + In_Frame_Del DEL GAA - - TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr7:98574607_98574609delGAA uc003upp.3 + 54 8481_8483 c.8272_8274delGAA c.(8272-8274)gaadel p.E2758del TRRAP_uc011kis.2_In_Frame_Del_p.E2740del|TRRAP_uc003upr.3_In_Frame_Del_p.E2457del NM_001244580 NP_001231509 Q9Y4A5 TRRAP_HUMAN Homo sapiens transformation/transcription domain-associated protein (TRRAP), transcript variant 1, mRNA. 2758 FAT. histone H2A acetylation|histone H4 acetylation|histone deubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2) 176 all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274) STAD - Stomach adenocarcinoma(171;0.215) GTTACAAGAGGAAGATATGTGGG 0.502 --- 75 --- --- 40 --- PTPRZ1 5803 broad.mit.edu 37 7 121612723 121612726 + Frame_Shift_Del DEL GAAG - - rs150779305 TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr7:121612723_121612726delGAAG uc003vjy.3 + 3 828_831 c.433_436delGAAG c.(433-438)gaaggafs p.E145fs PTPRZ1_uc011knt.2_Frame_Shift_Del_p.E145fs|PTPRZ1_uc003vjz.3_Frame_Shift_Del_p.E145fs NM_002851 NP_002842 P23471 PTPRZ_HUMAN Homo sapiens protein tyrosine phosphatase, receptor-type, Z polypeptide 1 (PTPRZ1), transcript variant 1, mRNA. 145 Alpha-carbonic anhydrase. central nervous system development integral to plasma membrane protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2) 106 GCATAGTTTAGAAGGACAAAAATT 0.324 --- 75 --- --- 46 --- PDCD11 22984 broad.mit.edu 37 10 105194715 105194715 + Frame_Shift_Del DEL C - - TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr10:105194715delC uc001kwy.1 + 24 3915 c.3828delC c.(3826-3828)gtcfs p.V1276fs NM_014976 NP_055791 Q14690 RRP5_HUMAN Homo sapiens programmed cell death 11 (PDCD11), mRNA. 1276 S1 motif 11. mRNA processing|rRNA processing nucleolus RNA binding|transcription factor binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 64 Colorectal(252;0.0747)|Breast(234;0.128) Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208) AAGACTTCGTCCCCCAGAAGG 0.453 --- 45 --- --- 38 --- SIK2 23235 broad.mit.edu 37 11 111594560 111594562 + In_Frame_Del DEL CCA - - rs45598733 TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr11:111594560_111594562delCCA uc001plt.3 + 14 2606_2608 c.2488_2490delCCA c.(2488-2490)ccadel p.P832del NM_015191 NP_056006 Q9H0K1 SIK2_HUMAN Homo sapiens salt-inducible kinase 2 (SIK2), mRNA. 832 intracellular protein kinase cascade|regulation of insulin receptor signaling pathway Golgi apparatus ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(3) 30 accaccccctccaccaccacgac 0.665 --- 88 --- --- 87 --- EPB42 2038 broad.mit.edu 37 15 43498539 43498540 + In_Frame_Ins INS - TGAGCG TGAGCG TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr15:43498539_43498540insTGAGCG uc001zrb.4 - 9 1996_1997 c.1696_1697insCGCTCA c.(1696-1698)agt>aCGCTCAgt p.565_566insTL EPB42_uc001zqz.4_In_Frame_Ins_p.202_203insTL|EPB42_uc001zra.4_In_Frame_Ins_p.535_536insTL|EPB42_uc010udm.2_In_Frame_Ins_p.457_458insTL NM_000119 NP_000110 P16452 EPB42_HUMAN Homo sapiens erythrocyte membrane protein band 4.2 (EPB42), transcript variant 1, mRNA. 535 erythrocyte maturation|peptide cross-linking|regulation of cell shape cytoplasm|cytoskeleton|plasma membrane ATP binding|protein binding|protein-glutamine gamma-glutamyltransferase activity|structural constituent of cytoskeleton endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 20 all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;8.7e-07) CAGGTTGGCACTGAGCGTGAGG 0.624 --- 82 --- --- 28 --- PKN1 5585 broad.mit.edu 37 19 14580770 14580772 + In_Frame_Del DEL AAG - - TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr19:14580770_14580772delAAG uc002myp.3 + 17 2431_2433 c.2263_2265delAAG c.(2263-2265)aagdel p.K755del PKN1_uc002myq.3_In_Frame_Del_p.K761del NM_002741 NP_002732 Q16512 PKN1_HUMAN Homo sapiens protein kinase N1 (PKN1), transcript variant 2, mRNA. 755 Protein kinase. activation of JUN kinase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent endosome|nucleus|plasma membrane ATP binding|GTP-Rho binding|Rac GTPase binding|androgen receptor binding|chromatin binding|histone binding|histone deacetylase binding|histone kinase activity (H3-T11 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(2)|upper_aerodigestive_tract(1) 31 GGGCTACGTCAAGATCGCAGACT 0.601 --- 177 --- --- 114 --- ZNF295 49854 broad.mit.edu 37 21 43412459 43412459 + Frame_Shift_Del DEL C - - TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ce77bb2-fb74-4dd2-8e06-54171c2d69d2 b695142c-782a-4489-bdde-3b1840d7b530 g.chr21:43412459delC uc021wjo.1 - 0 1746 c.1746delG c.(1744-1746)aagfs p.K582fs ZNF295_uc002yzz.4_Intron|ZNF295_uc002zab.4_Frame_Shift_Del_p.K582fs|ZNF295_uc002yzy.4_Frame_Shift_Del_p.K582fs|ZNF295_uc002zaa.4_Frame_Shift_Del_p.K582fs NM_020727 NP_065778 Q9ULJ3 ZN295_HUMAN Homo sapiens zinc finger protein 295 (ZNF295), transcript variant 2, mRNA. 582 negative regulation of transcription, DNA-dependent|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus methyl-CpG binding|protein binding|zinc ion binding breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 37 TGTGAAACCTCTTGTGACAGA 0.453 --- 89 --- --- 88 ---