Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_alt_allele validation_method validation_status validation_tumor_sample pox qox pox_cutoff isArtifactMode oxoGCut IGHV3OR16-8 388255 broad.mit.edu 37 16 33020647 33020647 + RNA SNP T T A TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr16:33020647T>A ENST00000565407.2 + 0 55 RP11-19N8.2_ENST00000567619.1_RNA AGGTGCCCAGTGTGAGGTGCA 0.537000 48 84 0 0 0.003610 0 0 TIAM2 26230 broad.mit.edu 37 6 155465784 155465784 + Missense_Mutation SNP G G T TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr6:155465784G>T ENST00000461783.3 + 8 2948 c.1675G>T c.(1675-1677)Gat>Tat p.D559Y TIAM2_ENST00000318981.5_Missense_Mutation_p.D559Y|TIAM2_ENST00000456144.1_Missense_Mutation_p.D559Y|TIAM2_ENST00000367174.2_5'UTR|TIAM2_ENST00000360366.4_Missense_Mutation_p.D559Y|TIAM2_ENST00000529824.2_Missense_Mutation_p.D559Y Q8IVF5 TIAM2_HUMAN T-cell lymphoma invasion and metastasis 2 559 PH 1. apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|filopodium|growth cone|lamellipodium receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4) 65 Ovarian(120;0.196) OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053) GAATTCCATGGATCAGAGCAG 0.488000 28 40 1.17739e-12 1.93518e-12 0.005443 1 0 DGKI 9162 broad.mit.edu 37 7 137092687 137092687 + Missense_Mutation SNP A A T TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr7:137092687A>T ENST00000453654.1 - 30 2424 c.1885T>A c.(1885-1887)Tgt>Agt p.C629S DGKI_ENST00000424189.2_Missense_Mutation_p.C973S|DGKI_ENST00000494390.1_5'UTR|DGKI_ENST00000288490.5_Missense_Mutation_p.C960S|DGKI_ENST00000446122.1_Missense_Mutation_p.C942S O75912 DGKI_HUMAN diacylglycerol kinase, iota 960 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 AGGAGTGAACAGTGGTCTGGT 0.443000 35 56 0 0 0.003755 0 0 DISP2 85455 broad.mit.edu 37 15 40655997 40655997 + Silent SNP G G A TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr15:40655997G>A ENST00000267889.3 + 2 378 c.291G>A c.(289-291)cgG>cgA p.R97R NM_033510.1 NP_277045.1 A7MBM2 DISP2_HUMAN dispatched homolog 2 (Drosophila) 97 smoothened signaling pathway integral to membrane breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(4) 30 all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247) CCTATCCCCGGGCACTGCAGG 0.657000 24 34 0 0 0.002780 0 0 GK 2710 broad.mit.edu 37 X 30709269 30709269 + Missense_Mutation SNP G G T TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chrX:30709269G>T ENST00000378943.3 + 5 546 c.367G>T c.(367-369)Gtt>Ttt p.V123F GK_ENST00000378945.3_Missense_Mutation_p.V123F|GK_ENST00000378946.3_Missense_Mutation_p.V123F|GK_ENST00000427190.1_5'UTR NM_001128127.2 NP_001121599.1 P32189 GLPK_HUMAN glycerol kinase 123 glycerol-3-phosphate metabolic process|triglyceride biosynthetic process cytosol|mitochondrial outer membrane ATP binding|glycerol kinase activity central_nervous_system(1)|large_intestine(3) 4 CCAGTCTACCGTTGAGAGTCT 0.269000 31 56 9.17885e-22 1.7951e-21 0.003271 1 0 SLC9A6 10479 broad.mit.edu 37 X 135095150 135095150 + Missense_Mutation SNP A A G TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chrX:135095150A>G ENST00000370695.4 + 8 1119 c.1084A>G c.(1084-1086)Aca>Gca p.T362A SLC9A6_ENST00000370698.3_Missense_Mutation_p.T330A|SLC9A6_ENST00000370701.1_Missense_Mutation_p.T310A NM_001042537.1 NP_001036002.1 Q92581 SL9A6_HUMAN solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6 330 regulation of pH early endosome membrane|endoplasmic reticulum membrane|integral to membrane|microsome|plasma membrane|recycling endosome membrane sodium:hydrogen antiporter activity central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(18)|ovary(2)|upper_aerodigestive_tract(1) 33 Acute lymphoblastic leukemia(192;0.000127) GTTGTTGGAGACAGGCCTGTT 0.438000 72 134 0 0 0.003610 0 0 CENPU 79682 broad.mit.edu 37 4 185622019 185622019 + Missense_Mutation SNP T T A TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr4:185622019T>A ENST00000281453.5 - 11 1011 c.941A>T c.(940-942)gAa>gTa p.E314V MLF1IP_ENST00000506535.1_Intron|MLF1IP_ENST00000541971.1_Missense_Mutation_p.E314V NM_024629.3 NP_078905.2 Q71F23 CENPU_HUMAN 314 CenH3-containing nucleosome assembly at centromere|interspecies interaction between organisms|mitotic prometaphase|regulation of transcription, DNA-dependent|transcription, DNA-dependent centrosome|condensed chromosome kinetochore|cytosol|nucleoplasm endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|stomach(1) 13 all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Hepatocellular(41;0.000519)|Colorectal(36;0.00172)|Renal(120;0.00988)|Prostate(90;0.0235)|all_neural(102;0.0299)|all_hematologic(60;0.0592)|Medulloblastoma(177;0.146) all cancers(43;7.83e-28)|Epithelial(43;2.56e-24)|OV - Ovarian serous cystadenocarcinoma(60;4.5e-11)|Colorectal(24;3.27e-06)|STAD - Stomach adenocarcinoma(60;2.66e-05)|GBM - Glioblastoma multiforme(59;3.16e-05)|BRCA - Breast invasive adenocarcinoma(30;0.000252)|COAD - Colon adenocarcinoma(29;0.000512)|LUSC - Lung squamous cell carcinoma(40;0.01)|READ - Rectum adenocarcinoma(43;0.0419) CCTTTTCTTTTCGATATCTGA 0.373000 19 47 0 0 0.002299 0 0 ZNF816 125893 broad.mit.edu 37 19 53454526 53454526 + Missense_Mutation SNP G G A TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr19:53454526G>A ENST00000357666.4 - 5 802 c.502C>T c.(502-504)Cac>Tac p.H168Y ZNF816_ENST00000444460.2_Missense_Mutation_p.H168Y|ZNF321P_ENST00000391777.3_Intron|ZNF816_ENST00000434371.2_Intron NM_001031665.2 NP_001026835.1 Q0VGE8 ZN816_HUMAN zinc finger protein 816 168 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.H168N(1) central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(10)|lung(9)|stomach(1)|urinary_tract(2) 27 TGAAACATGTGGAGTTCAGGC 0.423000 30 110 0 0 0.008361 0 0 FAM189A2 9413 broad.mit.edu 37 9 71992567 71992567 + Missense_Mutation SNP G G T TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr9:71992567G>T ENST00000257515.8 + 6 821 c.401G>T c.(400-402)gGa>gTa p.G134V FAM189A2_ENST00000303068.7_5'UTR|FAM189A2_ENST00000455972.1_Missense_Mutation_p.G134V NM_004816.3 NP_004807.3 Q15884 F1892_HUMAN family with sequence similarity 189, member A2 134 integral to membrane endometrium(3)|large_intestine(5)|liver(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 12 GAGGATCATGGACGCATCCCC 0.527000 23 15 5.45024e-15 9.46137e-15 0.003330 1 0 TMTC3 160418 broad.mit.edu 37 12 88548080 88548080 + Nonsense_Mutation SNP G G T TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr12:88548080G>T ENST00000266712.6 + 4 644 c.424G>T c.(424-426)Gga>Tga p.G142* NM_181783.3 NP_861448.2 Q6ZXV5 TMTC3_HUMAN transmembrane and tetratricopeptide repeat containing 3 142 integral to membrane binding NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|liver(1)|lung(12)|prostate(4)|skin(1) 31 AGGAGTTGTTGGAAGAGCAGA 0.299000 16 21 2.48551e-13 4.15147e-13 0.004990 1 0 OCRL 4952 broad.mit.edu 37 X 128722933 128722933 + Silent SNP T T C TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chrX:128722933T>C ENST00000371113.4 + 22 2577 c.2412T>C c.(2410-2412)tgT>tgC p.C804C OCRL_ENST00000357121.5_Silent_p.C796C NM_000276.3 NP_000267.2 Q01968 OCRL_HUMAN oculocerebrorenal syndrome of Lowe 804 Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction clathrin-coated vesicle|cytosol|early endosome|Golgi stack|Golgi-associated vesicle GTPase activator activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding breast(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|upper_aerodigestive_tract(3) 48 CAGTCATCTGTTACGAGCTGT 0.527000 35 55 0 0 0.005524 0 0 BCORL1 63035 broad.mit.edu 37 X 129185893 129185893 + Missense_Mutation SNP A A T TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chrX:129185893A>T ENST00000540052.1 + 11 4799 c.4755A>T c.(4753-4755)caA>caT p.Q1585H BCORL1_ENST00000359304.2_Missense_Mutation_p.Q1455H|BCORL1_ENST00000303743.5_Missense_Mutation_p.Q1659H|BCORL1_ENST00000218147.7_Missense_Mutation_p.Q1585H NM_021946.4 NP_068765.3 Q5H9F3 BCORL_HUMAN BCL6 corepressor-like 1 1585 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 75 GCTCAGATCAAGAAGGAGACG 0.498000 60 117 0 0 0.003610 0 0 CHRNB3 1142 broad.mit.edu 37 8 42587121 42587121 + Missense_Mutation SNP C C A TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr8:42587121C>A ENST00000289957.2 + 5 799 c.671C>A c.(670-672)aCg>aAg p.T224K NM_000749.3 NP_000740.1 Q05901 ACHB3_HUMAN cholinergic receptor, nicotinic, beta 3 (neuronal) 224 synaptic transmission, cholinergic cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane nicotinic acetylcholine-activated cation-selective channel activity|receptor activity endometrium(4)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2) 25 all_lung(13;5.7e-12)|Lung NSC(13;1.6e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.184) all_lung(54;0.00026)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954) Lung(22;0.0199)|LUSC - Lung squamous cell carcinoma(45;0.0869) CCCTTTATCACGTATTCCTTC 0.468000 20 34 4.96729e-08 7.07324e-08 0.008871 1 0 DGKK 139189 broad.mit.edu 37 X 50111917 50111917 + RNA SNP G G C TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chrX:50111917G>C ENST00000376025.2 - 0 3896 Q5KSL6 DGKK_HUMAN diacylglycerol kinase, kappa activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress cytoplasm|plasma membrane ATP binding|diacylglycerol kinase activity|metal ion binding central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 Ovarian(276;0.236) TCAATGTTGTGAGTTCTTCCA 0.423000 17 36 0 0 0.004007 0 0 SLCO2B1 11309 broad.mit.edu 37 11 74880349 74880349 + Missense_Mutation SNP G G A TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr11:74880349G>A ENST00000289575.5 + 5 975 c.580G>A c.(580-582)Gtg>Atg p.V194M SLCO2B1_ENST00000532236.1_Missense_Mutation_p.V78M|SLCO2B1_ENST00000531756.1_Intron|SLCO2B1_ENST00000525650.1_Missense_Mutation_p.V50M|SLCO2B1_ENST00000341411.4_Intron|SLCO2B1_ENST00000526660.1_Intron|SLCO2B1_ENST00000454962.2_Intron|SLCO2B1_ENST00000428359.2_Missense_Mutation_p.V172M NM_007256.4 NP_009187.1 O94956 SO2B1_HUMAN solute carrier organic anion transporter family, member 2B1 194 sodium-independent organic anion transport integral to membrane sodium-independent organic anion transmembrane transporter activity breast(2)|endometrium(1)|large_intestine(7)|lung(20)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 39 Ergoloid mesylate(DB01049) GATCATGTTCGTGGCACAGAC 0.612000 17 36 0 0 0.004007 0 0 KEL 3792 broad.mit.edu 37 7 142651424 142651424 + Silent SNP C C A TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr7:142651424C>A ENST00000355265.2 - 8 1245 c.771G>T c.(769-771)ctG>ctT p.L257L KEL_ENST00000479768.2_5'UTR NM_000420.2 NP_000411.1 P23276 KELL_HUMAN Kell blood group, metallo-endopeptidase 257 proteolysis|vasoconstriction integral to membrane|plasma membrane metal ion binding|metalloendopeptidase activity|protein binding central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1) 60 Melanoma(164;0.059) GCAAGGTTCCCAGCTGATTCA 0.542000 25 61 2.79863e-10 4.34562e-10 0.004656 1 0 GK 2710 broad.mit.edu 37 X 30714174 30714174 + Missense_Mutation SNP G G T TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chrX:30714174G>T ENST00000378943.3 + 7 747 c.568G>T c.(568-570)Gtc>Ttc p.V190F GK_ENST00000378945.3_Missense_Mutation_p.V190F|GK_ENST00000378946.3_Missense_Mutation_p.V190F|GK_ENST00000427190.1_5'UTR NM_001128127.2 NP_001121599.1 P32189 GLPK_HUMAN glycerol kinase 190 glycerol-3-phosphate metabolic process|triglyceride biosynthetic process cytosol|mitochondrial outer membrane ATP binding|glycerol kinase activity central_nervous_system(1)|large_intestine(3) 4 GACAGGAGGAGTCAATGGAGG 0.363000 4 19 0.000602214 0.000765779 0.000602 1 0 SLC6A10P 386757 broad.mit.edu 37 16 32890646 32890646 + RNA SNP C C A TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr16:32890646C>A ENST00000330048.5 - 0 3152 NR_003083.2 GCTTGTAGTACACAACGTTGA 0.637000 12 23 2.27111e-07 3.14696e-07 0.001368 1 0 GRHL3 57822 broad.mit.edu 37 1 24658015 24658015 + Translation_Start_Site SNP G G A rs142785065 TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr1:24658015G>A ENST00000356046.2 + 0 282 GRHL3_ENST00000342072.4_De_novo_Start_InFrame|GRHL3_ENST00000530984.1_3'UTR|GRHL3_ENST00000361548.4_Silent_p.P39P|GRHL3_ENST00000350501.5_Silent_p.P39P|GRHL3_ENST00000236255.4_Silent_p.P44P NM_001195010.1 NP_001181939.1 Q8TE85 GRHL3_HUMAN grainyhead-like 3 (Drosophila) regulation of actin cytoskeleton organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143) TAGAAAACCCGTTGACAGCTG 0.493000 14 70 0 0 0.001855 0 0 MUC16 94025 broad.mit.edu 37 19 9087031 9087031 + Missense_Mutation SNP G G T TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr19:9087031G>T ENST00000397910.4 - 1 4987 c.4784C>A c.(4783-4785)aCa>aAa p.T1595K NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 1595 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 TCTCCCTTGTGTCCCGAGCTC 0.483000 67 39 1.08241e-25 2.20042e-25 0.003610 1 0 ZBTB24 9841 broad.mit.edu 37 6 109787215 109787215 + Silent SNP G G A TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr6:109787215G>A ENST00000230122.3 - 7 2100 c.1933C>T c.(1933-1935)Ctg>Ttg p.L645L NM_001164313.1|NM_014797.2 NP_001157785.1|NP_055612.2 O43167 ZBT24_HUMAN zinc finger and BTB domain containing 24 645 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1) 22 all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149) Epithelial(106;0.0154)|all cancers(137;0.0216)|OV - Ovarian serous cystadenocarcinoma(136;0.0242)|BRCA - Breast invasive adenocarcinoma(108;0.059) AGATGTTCCAGTGTTTCCTTG 0.502000 30 36 0 0 0.002096 0 0 NNT 23530 broad.mit.edu 37 5 43700243 43700243 + Missense_Mutation SNP G G T TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr5:43700243G>T ENST00000264663.5 + 20 3120 c.2899G>T c.(2899-2901)Ggc>Tgc p.G967C NNT_ENST00000344920.4_Missense_Mutation_p.G967C|NNT_ENST00000512996.2_Missense_Mutation_p.G836C NM_012343.3 NP_036475.3 Q13423 NNTM_HUMAN nicotinamide nucleotide transhydrogenase 967 tricarboxylic acid cycle integral to membrane|mitochondrial respiratory chain NAD binding|NAD(P)+ transhydrogenase (AB-specific) activity|NAD(P)+ transhydrogenase (B-specific) activity|NADP binding breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 Lung NSC(6;2.58e-06) NADH(DB00157) CCCAGTTGCAGGCCGAATGCC 0.458000 24 110 1.17739e-12 1.93518e-12 0.005443 1 0 SLITRK2 84631 broad.mit.edu 37 X 144905810 144905810 + Missense_Mutation SNP C C G TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chrX:144905810C>G ENST00000370490.1 + 1 6122 c.1867C>G c.(1867-1869)Ctg>Gtg p.L623V SLITRK2_ENST00000434188.2_Missense_Mutation_p.L623V|SLITRK2_ENST00000428560.2_Missense_Mutation_p.L623V|SLITRK2_ENST00000413937.2_Missense_Mutation_p.L623V|SLITRK2_ENST00000447897.2_Missense_Mutation_p.L623V Q9H156 SLIK2_HUMAN SLIT and NTRK-like family, member 2 623 integral to membrane NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 86 Acute lymphoblastic leukemia(192;6.56e-05) TGTCTTAATTCTGGGATTGCT 0.453000 42 62 0 0 0.007835 0 0 DYSF 8291 broad.mit.edu 37 2 71783149 71783149 + Missense_Mutation SNP G G T TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr2:71783149G>T ENST00000258104.3 + 22 2387 c.2110G>T c.(2110-2112)Gac>Tac p.D704Y DYSF_ENST00000413539.2_Missense_Mutation_p.D735Y|DYSF_ENST00000409582.3_Missense_Mutation_p.D721Y|DYSF_ENST00000410041.1_Missense_Mutation_p.D722Y|DYSF_ENST00000394120.2_Missense_Mutation_p.D705Y|DYSF_ENST00000409651.1_Missense_Mutation_p.D736Y|DYSF_ENST00000409366.1_Missense_Mutation_p.D705Y|DYSF_ENST00000409744.1_Missense_Mutation_p.D691Y|DYSF_ENST00000429174.2_Missense_Mutation_p.D704Y|DYSF_ENST00000409762.1_Missense_Mutation_p.D721Y|DYSF_ENST00000410020.3_Missense_Mutation_p.D722Y NM_001130976.1|NM_003494.3 NP_001124448.1|NP_003485.1 O75923 DYSF_HUMAN dysferlin 704 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 CTCCACGGAGGACGTGGACTC 0.662000 3 6 0.004672 0.00572876 0.004672 1 0 KRAS 3845 broad.mit.edu 37 12 25398284 25398284 + Missense_Mutation SNP C C T rs121913529 TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr12:25398284C>T ENST00000311936.3 - 2 226 c.35G>A c.(34-36)gGt>gAt p.G12D KRAS_ENST00000256078.4_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D NM_004985.3 NP_004976.2 P01116 RASK_HUMAN Kirsten rat sarcoma viral oncogene homolog 12 G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation). activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction plasma membrane GTP binding|GTPase activity|protein binding p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1) UBE2L3/KRAS(2) NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57) 25349 all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12) OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05) GCCTACGCCACCAGCTCCAAC 0.348000 G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS) 119 Mis """pancreatic, colorectal, lung, thyroid, AML, others""" Noonan syndrome;Cardiofaciocutaneous syndrome TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6) 14 9 0 0 0.002450 0 0 OR2T3 343173 broad.mit.edu 37 1 248637509 248637509 + Missense_Mutation SNP C C G TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr1:248637509C>G ENST00000359594.2 + 1 883 c.858C>G c.(856-858)ttC>ttG p.F286L NM_001005495.1 NP_001005495.1 Q8NH03 OR2T3_HUMAN olfactory receptor, family 2, subfamily T, member 3 286 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|endometrium(5)|lung(19)|ovary(1)|prostate(1)|skin(3) 31 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) ACACCATCTTCACTCCTGTGC 0.502000 63 271 0 0 0.003610 0 0 AMER1 139285 broad.mit.edu 37 X 63410547 63410547 + Nonsense_Mutation SNP C C A TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chrX:63410547C>A ENST00000330258.3 - 2 2892 c.2620G>T c.(2620-2622)Gga>Tga p.G874* AMER1_ENST00000403336.1_Intron|AMER1_ENST00000374869.3_Intron NM_152424.3 NP_689637.3 APC membrane recruitment protein 1 p.0?(67) CCAGGCAGTCCCAAGTATCGA 0.577000 12 23 0.000978159 0.00122866 0.000978 1 0 ZNF534 147658 broad.mit.edu 37 19 52942343 52942343 + Missense_Mutation SNP C C G TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr19:52942343C>G ENST00000332323.6 + 4 1730 c.1669C>G c.(1669-1671)Cat>Gat p.H557D ZNF534_ENST00000432303.2_Intron|ZNF534_ENST00000433050.1_Missense_Mutation_p.H544D|ZNF534_ENST00000301085.4_Intron NM_001143939.1 NP_001137411.1 Q76KX8 ZN534_HUMAN zinc finger protein 534 557 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|lung(1)|prostate(1)|skin(1) 4 TAGGAATGTTCATACTGGAGA 0.438000 5 1 0 0 0.001168 0 0 OR52L1 338751 broad.mit.edu 37 11 6007177 6007177 + Missense_Mutation SNP C C A TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr11:6007177C>A ENST00000332249.4 - 1 1038 c.984G>T c.(982-984)aaG>aaT p.K328N NM_001005173.2 NP_001005173.2 Q8NGH7 O52L1_HUMAN olfactory receptor, family 52, subfamily L, member 1 328 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|pancreas(1)|skin(3)|soft_tissue(1) 30 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;1.98e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135) CAGATCAATCCTTTTGTGTAA 0.488000 4 6 0.000602214 0.000765779 0.000602 1 0 GPRASP2 114928 broad.mit.edu 37 X 101971017 101971017 + Missense_Mutation SNP G G C TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chrX:101971017G>C ENST00000543253.1 + 5 2139 c.1220G>C c.(1219-1221)tGt>tCt p.C407S GPRASP2_ENST00000332262.5_Missense_Mutation_p.C407S|GPRASP2_ENST00000535209.1_Missense_Mutation_p.C407S NM_001004051.3|NM_001184874.2|NM_001184876.2 NP_001004051.1|NP_001171803.1|NP_001171805.1 G protein-coupled receptor associated sorting protein 2 breast(3)|endometrium(5)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|upper_aerodigestive_tract(1) 30 TCAGCAATCTGTGAATCTGAG 0.552000 33 68 0 0 0.005524 0 0 MAP7D2 256714 broad.mit.edu 37 X 20043197 20043197 + Missense_Mutation SNP C C G TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chrX:20043197C>G ENST00000379651.3 - 9 1179 c.1161G>C c.(1159-1161)ttG>ttC p.L387F MAP7D2_ENST00000443379.3_Missense_Mutation_p.L342F|MAP7D2_ENST00000379643.5_Missense_Mutation_p.L428F|MAP7D2_ENST00000543767.1_Missense_Mutation_p.L272F|MAP7D2_ENST00000466145.1_5'UTR|MAP7D2_ENST00000452324.3_Missense_Mutation_p.L335F NM_152780.3 NP_689993.2 Q96T17 MA7D2_HUMAN MAP7 domain containing 2 387 NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 37 TGGGCTTCCCCAAGGCTGCAC 0.517000 41 80 0 0 0.006999 0 0 LRP1B 53353 broad.mit.edu 37 2 141108467 141108467 + Missense_Mutation SNP G G C TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr2:141108467G>C ENST00000389484.3 - 77 12762 c.11791C>G c.(11791-11793)Caa>Gaa p.Q3931E NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 3931 protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) ATATCTCTTTGATAATATACA 0.348000 TSP Lung(27;0.18) 10 37 0 0 0.006214 0 0 RNF32 140545 broad.mit.edu 37 7 156450897 156450897 + Silent SNP C C A rs149366944 TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr7:156450897C>A ENST00000392741.2 + 5 614 c.526C>A c.(526-528)Cga>Aga p.R176R RNF32_ENST00000480011.1_3'UTR|RNF32_ENST00000392743.2_Silent_p.R176R|RNF32_ENST00000317955.5_Silent_p.R176R|RNF32_ENST00000432459.2_Silent_p.R176R|RNF32_ENST00000405335.1_Silent_p.R176R|RNF32_ENST00000311822.8_Silent_p.R176R|RNF32_ENST00000343665.4_Silent_p.R152R Q9H0A6 RNF32_HUMAN ring finger protein 32 176 aggresome|endosome protein binding|zinc ion binding cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(2) 15 Ovarian(565;0.218) all_hematologic(28;0.0592) OV - Ovarian serous cystadenocarcinoma(82;0.00291) UCEC - Uterine corpus endometrioid carcinoma (81;0.169) GTATCAAACCCGAGTGATACA 0.463000 22 29 1.55795e-14 2.68941e-14 0.001882 1 0 NEUROG2 63973 broad.mit.edu 37 4 113436575 113436575 + Silent SNP C C A TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr4:113436575C>A ENST00000313341.3 - 2 383 c.57G>T c.(55-57)ctG>ctT p.L19L RP11-402J6.1_ENST00000506057.1_RNA NM_024019.3 NP_076924.1 Q9H2A3 NGN2_HUMAN neurogenin 2 19 positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent nucleus E-box binding central_nervous_system(1)|large_intestine(3)|lung(6)|skin(2) 12 Ovarian(17;0.156) OV - Ovarian serous cystadenocarcinoma(123;0.00168) CCGATCCGAGCAGCACTAACA 0.622000 9 33 3.09899e-07 4.27494e-07 0.004482 1 0 MST1L 11223 broad.mit.edu 37 1 17085193 17085193 + RNA SNP C C T TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr1:17085193C>T ENST00000455405.2 - 0 83 GGATTGATGGCGGCTGGTCAT 0.577000 11 42 0 0 0.001855 0 0 ARHGAP36 158763 broad.mit.edu 37 X 130215645 130215645 + Silent SNP T T C TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chrX:130215645T>C ENST00000276211.5 + 2 351 c.6T>C c.(4-6)ggT>ggC p.G2G ARHGAP36_ENST00000370922.1_Intron NM_144967.3 NP_659404.2 Q6ZRI8 RHG36_HUMAN Rho GTPase activating protein 36 2 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2) 71 CCAGAATGGGTGGCTGCATTC 0.517000 35 47 0 0 0.003755 0 0 HPS6 79803 broad.mit.edu 37 10 103826990 103826990 + Missense_Mutation SNP G G A TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr10:103826990G>A ENST00000299238.5 + 1 1844 c.1759G>A c.(1759-1761)Gca>Aca p.A587T NM_024747.5 NP_079023.2 Q86YV9 HPS6_HUMAN Hermansky-Pudlak syndrome 6 587 cytosol|early endosome membrane|endoplasmic reticulum|microsome endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1) 11 Colorectal(252;0.122) Epithelial(162;5.93e-08)|all cancers(201;1.03e-06) TGTGGAGCTGGCACAGCAGCA 0.662000 Hermansky-Pudlak syndrome 22 33 0 0 0.001523 0 0 NOA1 84273 broad.mit.edu 37 4 57843074 57843074 + Silent SNP C C G TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr4:57843074C>G ENST00000264230.4 - 1 1915 c.678G>C c.(676-678)ctG>ctC p.L226L NM_032313.2 NP_115689.1 Q8NC60 CD014_HUMAN nitric oxide associated 1 226 GTP binding GGGCGTCGGGCAGGTCCAGCA 0.697000 14 49 0 0 0.001855 0 0 NBPF10 100132406 broad.mit.edu 37 1 145367767 145367767 + Missense_Mutation SNP G G A rs77484671 TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr1:145367767G>A ENST00000342960.5 + 83 10398 c.10363G>A c.(10363-10365)Gaa>Aaa p.E3455K NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron NM_001039703.4 NP_001034792.4 A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 3455 p.E3455K(5) NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) atcaaagaaggaaagaagaag 0.423000 5 46 0 0 0.000602 0 0 STAB2 55576 broad.mit.edu 37 12 104033930 104033930 + Missense_Mutation SNP G G C TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr12:104033930G>C ENST00000388887.2 + 9 1140 c.936G>C c.(934-936)caG>caC p.Q312H NM_017564.9 NP_060034.9 Q8WWQ8 STAB2_HUMAN stabilin 2 312 angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis cytoplasm|external side of plasma membrane|integral to plasma membrane Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2) 174 AGCATTACCAGAATTTCGTAC 0.433000 31 52 0 0 0.002096 0 0 TTC8 123016 broad.mit.edu 37 14 89341421 89341421 + Missense_Mutation SNP C C T TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr14:89341421C>T ENST00000338104.6 + 14 1499 c.1447C>T c.(1447-1449)Ccg>Tcg p.P483S TTC8_ENST00000345383.5_Missense_Mutation_p.P457S|TTC8_ENST00000358622.5_Missense_Mutation_p.P269S|TTC8_ENST00000346301.4_Missense_Mutation_p.P427S|TTC8_ENST00000380656.2_Missense_Mutation_p.P467S|TTC8_ENST00000536576.1_Missense_Mutation_p.P228S|TTC8_ENST00000354441.6_Missense_Mutation_p.P202S Q8TAM2 TTC8_HUMAN tetratricopeptide repeat domain 8 493 cilium assembly|establishment of anatomical structure orientation|sensory processing BBSome|centrosome|cilium membrane|microtubule basal body protein binding endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1) 15 TATGTATGAACCGCATTTTAA 0.299000 21 37 0 0 0.002299 0 0 NR2E1 7101 broad.mit.edu 37 6 108502054 108502054 + Silent SNP C C A TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr6:108502054C>A ENST00000368986.4 + 7 1491 c.783C>A c.(781-783)atC>atA p.I261I NR2E1_ENST00000368983.3_Silent_p.I298I NM_003269.3 NP_003260.1 Q9Y466 NR2E1_HUMAN nuclear receptor subfamily 2, group E, member 1 261 Ligand-binding (By similarity). regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(16)|prostate(1)|skin(3) 30 all_cancers(87;8.13e-05)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00866)|Colorectal(196;0.0637) BRCA - Breast invasive adenocarcinoma(108;0.013)|Epithelial(106;0.0521)|all cancers(137;0.068)|OV - Ovarian serous cystadenocarcinoma(136;0.0689) TGAACAAGATCATATCTGAAA 0.373000 24 77 1.96895e-08 2.88344e-08 0.002780 1 0 TP53 7157 broad.mit.edu 37 17 7578455 7578455 + Missense_Mutation SNP C C G TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr17:7578455C>G ENST00000420246.2 - 5 607 c.475G>C c.(475-477)Gcc>Ccc p.A159P TP53_ENST00000413465.2_Missense_Mutation_p.A159P|TP53_ENST00000455263.2_Missense_Mutation_p.A159P|TP53_ENST00000359597.4_Missense_Mutation_p.A159P|TP53_ENST00000269305.4_Missense_Mutation_p.A159P|TP53_ENST00000445888.2_Missense_Mutation_p.A159P NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 159 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. A -> D (in sporadic cancers; somatic mutation).|A -> F (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|A -> G (in sporadic cancers; somatic mutation).|A -> P (in sporadic cancers; somatic mutation).|A -> S (in sporadic cancers; somatic mutation).|A -> T (in sporadic cancers; somatic mutation).|A -> V (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.A159P(19)|p.0?(8)|p.A159T(7)|p.R158fs(6)|p.R158fs*11(6)|p.A159fs*11(4)|p.A159S(4)|p.R65fs(2)|p.A27P(2)|p.R158_A159delRA(2)|p.R156_I162delRVRAMAI(2)|p.V157fs*9(2)|p.R26fs(2)|p.A66P(2)|p.V157_C176del20(1)|p.R156_A161delRVRAMA(1)|p.P151_V173del23(1)|p.R156fs*18(1)|p.R26fs*11(1)|p.R156_A161del(1)|p.R158_A159insXX(1)|p.V157_M160delVRAM(1)|p.S149fs*72(1)|p.A159fs*21(1)|p.T155_A161delTRVRAMA(1)|p.R65fs*11(1)|p.R156fs*20(1)|p.V157_I162delVRAMAI(1)|p.A159_Q167delAMAIYKQSQ(1)|p.V157fs*21(1)|p.R158fs*8(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) ATGGCCATGGCGCGGACGCGG 0.627000 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 25 14 0 0 0.003954 0 0 FCGBP 8857 broad.mit.edu 37 19 40367787 40367787 + Silent SNP G G A TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr19:40367787G>A ENST00000221347.6 - 29 13180 c.13173C>T c.(13171-13173)tgC>tgT p.C4391C NM_003890.2 NP_003881.2 Q9Y6R7 FCGBP_HUMAN Fc fragment of IgG binding protein 4391 TIL 10. 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) AACCCGCGTCGCACTGGCAGC 0.647000 19 56 0 0 0.003954 0 0 FHL5 9457 broad.mit.edu 37 6 97063586 97063586 + Silent SNP C C T TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr6:97063586C>T ENST00000326771.2 + 7 1173 c.793C>T c.(793-795)Ctg>Ttg p.L265L FHL5_ENST00000541107.1_Silent_p.L265L NM_020482.4 NP_065228.4 Q5TD97 FHL5_HUMAN four and a half LIM domains 5 265 LIM zinc-binding 4. nucleus zinc ion binding endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|urinary_tract(1) 27 all_cancers(76;1.57e-07)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00266)|Colorectal(196;0.0341)|Lung NSC(302;0.204) BRCA - Breast invasive adenocarcinoma(108;0.0948) TAAAGGCTTCCTGACCCAGAA 0.483000 12 40 0 0 0.002450 0 0 ZNF678 339500 broad.mit.edu 37 1 227843408 227843408 + Missense_Mutation SNP A A G TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr1:227843408A>G ENST00000343776.4 + 4 1802 c.1457A>G c.(1456-1458)gAg>gGg p.E486G ZNF678_ENST00000498759.1_Intron|ZNF678_ENST00000397097.3_Missense_Mutation_p.E541G F5GXA7 F5GXA7_HUMAN zinc finger protein 678 541 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|pancreas(1)|prostate(1) 24 Prostate(94;0.0885) CATACTGGAGAGAAACGCTAC 0.358000 17 36 0 0 0.004007 0 0 GRB14 2888 broad.mit.edu 37 2 165353575 165353575 + Missense_Mutation SNP T T C TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr2:165353575T>C ENST00000263915.3 - 12 1863 c.1325A>G c.(1324-1326)cAc>cGc p.H442R GRB14_ENST00000543549.1_Missense_Mutation_p.H355R NM_004490.2 NP_004481.2 Q14449 GRB14_HUMAN growth factor receptor-bound protein 14 442 SH2. blood coagulation|leukocyte migration cytosol|endosome membrane|Golgi membrane|microsome|plasma membrane SH3/SH2 adaptor activity breast(3)|endometrium(2)|large_intestine(6)|lung(10)|ovary(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 32 AGAAATTTTGTGGTGAAACCA 0.388000 6 29 0 0 0.004482 0 0 TM4SF4 7104 broad.mit.edu 37 3 149193609 149193609 + Splice_Site SNP G G T TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr3:149193609G>T ENST00000305354.4 + 2 1078 c.e2-1 NM_004617.3 NP_004608.1 P48230 T4S4_HUMAN transmembrane 4 L six family member 4 integral to membrane large_intestine(3)|lung(4)|ovary(1)|prostate(1) 9 LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048) TCTCCTGGTAGATGATCTTCC 0.572000 7 15 2.7689e-08 4.0358e-08 0.001984 1 0 CHRNA6 8973 broad.mit.edu 37 8 42611537 42611537 + Missense_Mutation SNP C C T TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr8:42611537C>T ENST00000276410.2 - 5 1160 c.805G>A c.(805-807)Ggt>Agt p.G269S CHRNA6_ENST00000534622.1_Missense_Mutation_p.G254S NM_004198.3 NP_004189.1 Q15825 ACHA6_HUMAN cholinergic receptor, nicotinic, alpha 6 (neuronal) 269 cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity endometrium(2)|large_intestine(3)|liver(1)|lung(15)|ovary(1) 22 all_lung(13;3.33e-12)|Lung NSC(13;9.17e-11)|Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184) all_lung(54;0.00439)|Lung NSC(58;0.0124)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151) Lung(22;0.0252)|LUSC - Lung squamous cell carcinoma(45;0.0869) ACTTTTTCACCACAGTCCGAA 0.423000 19 31 0 0 0.006122 0 0 LPAR1 1902 broad.mit.edu 37 9 113637828 113637828 + Missense_Mutation SNP C C G TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr9:113637828C>G ENST00000374431.3 - 5 1351 c.968G>C c.(967-969)aGg>aCg p.R323T LPAR1_ENST00000541779.1_Missense_Mutation_p.R324T|LPAR1_ENST00000374430.2_Missense_Mutation_p.R323T|LPAR1_ENST00000538760.1_Missense_Mutation_p.R324T|LPAR1_ENST00000358883.4_Missense_Mutation_p.R323T NM_057159.2 NP_476500.1 Q92633 LPAR1_HUMAN lysophosphatidic acid receptor 1 323 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 GAGGATCTGCCTAAAGGTGGC 0.547000 52 22 0 0 0.003610 0 0 SLCO6A1 133482 broad.mit.edu 37 5 101834498 101834498 + Missense_Mutation SNP C C A TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr5:101834498C>A ENST00000506729.1 - 1 222 c.51G>T c.(49-51)agG>agT p.R17S SLCO6A1_ENST00000389019.3_Missense_Mutation_p.R17S|SLCO6A1_ENST00000379807.3_Missense_Mutation_p.R17S|SLCO6A1_ENST00000379810.1_Missense_Mutation_p.R17S|SLCO6A1_ENST00000513675.1_Missense_Mutation_p.R17S Q86UG4 SO6A1_HUMAN solute carrier organic anion transporter family, member 6A1 17 integral to membrane|plasma membrane transporter activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323) Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113) GCTCTACTCCCCTTGAGACTT 0.677000 54 84 2.84144e-21 5.52204e-21 0.003610 1 0 ALPK2 115701 broad.mit.edu 37 18 56274588 56274588 + Missense_Mutation SNP C C G TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr18:56274588C>G ENST00000361673.3 - 3 406 c.193G>C c.(193-195)Gag>Cag p.E65Q NM_052947.3 NP_443179.3 Q86TB3 ALPK2_HUMAN alpha-kinase 2 65 Ig-like 1. ATP binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2) 84 TACTGATTCTCAAAGAATTCA 0.393000 3 44 0 0 0.004672 0 0 LAMB4 22798 broad.mit.edu 37 7 107746332 107746332 + Missense_Mutation SNP C C A TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr7:107746332C>A ENST00000388781.3 - 8 883 c.800G>T c.(799-801)tGc>tTc p.C267F LAMB4_ENST00000205386.4_Missense_Mutation_p.C267F|LAMB4_ENST00000414450.2_Missense_Mutation_p.C267F|LAMB4_ENST00000388780.3_Missense_Mutation_p.C267F NM_007356.2 NP_031382.2 A4D0S4 LAMB4_HUMAN laminin, beta 4 267 Laminin EGF-like 1. cell adhesion basement membrane NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4) 97 ATGGCCATTGCAAAAGCAGCT 0.478000 25 33 5.45727e-16 9.58123e-16 0.008361 1 0 HNRNPH2 3188 broad.mit.edu 37 X 100667052 100667052 + Nonsense_Mutation SNP G G T TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chrX:100667052G>T ENST00000316594.5 + 2 154 c.76G>T c.(76-78)Gaa>Taa p.E26* RPL36A-HNRNPH2_ENST00000409170.3_3'UTR NM_001032393.2|NM_001199973.1|NM_001199974.1|NM_019597.4 NP_001027565.1|NP_001186902.1|NP_001186903.1|NP_062543.1 P55795 HNRH2_HUMAN heterogeneous nuclear ribonucleoprotein H2 (H') 26 RRM 1. nuclear mRNA splicing, via spliceosome actin cytoskeleton|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm nucleotide binding|protein binding|RNA binding breast(3)|large_intestine(2)|lung(6)|skin(1) 12 CTCAGCCGATGAAGTGATGCG 0.527000 19 82 1.67942e-08 2.47114e-08 0.006122 1 0 CRISPLD1 83690 broad.mit.edu 37 8 75924769 75924769 + Missense_Mutation SNP G G T TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr8:75924769G>T ENST00000262207.4 + 3 828 c.360G>T c.(358-360)ttG>ttT p.L120F CRISPLD1_ENST00000519798.1_3'UTR|CRISPLD1_ENST00000523524.1_5'UTR|CRISPLD1_ENST00000517786.1_5'UTR NM_031461.5 NP_113649.1 Q9H336 CRLD1_HUMAN cysteine-rich secretory protein LCCL domain containing 1 120 extracellular region biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(7)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 Breast(64;0.0799) Epithelial(68;0.155)|BRCA - Breast invasive adenocarcinoma(89;0.161) GACAGAATTTGGGAGCACACT 0.388000 25 29 2.52088e-20 4.7497e-20 0.002780 1 0 HBBP1 3044 broad.mit.edu 37 11 5264337 5264337 + RNA SNP A A C TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr11:5264337A>C ENST00000454892.1 - 0 159 NR_001589.1 ACTACTCACCAGGAAGTTCTC 0.458000 4 14 0 0 0.000248 0 0 THEM5 284486 broad.mit.edu 37 1 151820257 151820257 + Silent SNP G G T TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr1:151820257G>T ENST00000368817.5 - 5 788 c.657C>A c.(655-657)atC>atA p.I219I AL450992.2_ENST00000434182.1_RNA NM_182578.3 NP_872384.1 Q8N1Q8 THEM5_HUMAN thioesterase superfamily member 5 219 hydrolase activity breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(2) 15 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14) LUSC - Lung squamous cell carcinoma(543;0.181) TGCTGTGGGCGATGCAGGACA 0.582000 18 41 4.35082e-09 6.4947e-09 0.001523 1 0 MRM1 79922 broad.mit.edu 37 17 34958541 34958541 + Missense_Mutation SNP G G A TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr17:34958541G>A ENST00000250156.7 + 1 541 c.302G>A c.(301-303)cGg>cAg p.R101Q MRM1_ENST00000585770.1_5'UTR NM_024864.3 NP_079140.2 Q6IN84 MRM1_HUMAN mitochondrial rRNA methyltransferase 1 homolog (S. cerevisiae) 101 RNA processing mitochondrion RNA binding|RNA methyltransferase activity NS(1)|endometrium(1)|large_intestine(2)|lung(1) 5 Breast(25;0.00957)|Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0184) CCAGTTCTGCGGCCCAGACGG 0.687000 24 29 0 0 0.003954 0 0 ALMS1P 200420 broad.mit.edu 37 2 73899935 73899935 + RNA SNP G G C TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr2:73899935G>C ENST00000450720.1 + 0 495 NR_003683.2 TTTCCTGTAGGAGTTTCCTGG 0.423000 7 15 0 0 0.003080 0 0 SNHG14 104472715 broad.mit.edu 37 15 25427643 25427643 + RNA SNP C C A TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr15:25427643C>A ENST00000424208.1 + 0 272 NR_003305.1 GAAGAGGATGCTGGGATTCCG 0.522000 53 36 3.4597e-24 6.85287e-24 0.003610 1 0 CDH12 1010 broad.mit.edu 37 5 22078729 22078729 + Silent SNP G G A TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr5:22078729G>A ENST00000382254.1 - 5 1143 c.57C>T c.(55-57)ctC>ctT p.L19L CDH12_ENST00000522262.1_Silent_p.L19L|CDH12_ENST00000504376.2_Silent_p.L19L NM_004061.3 NP_004052.2 P55289 CAD12_HUMAN cadherin 12, type 2 (N-cadherin 2) 19 adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 120 GTGGTGTTAGGAGACCTCCAT 0.453000 HNSCC(59;0.17) 33 225 0 0 0.002445 0 0 IGHV3-48 28424 broad.mit.edu 37 14 106993928 106993928 + RNA SNP G G T TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr14:106993928G>T ENST00000390624.2 - 0 315 CAGAGTCTGCGTAGTATATGG 0.502000 35 293 2.42023e-17 4.32284e-17 0.003271 1 0 DSP 1832 broad.mit.edu 37 6 7580653 7580653 + Silent SNP G G A TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr6:7580653G>A ENST00000379802.3 + 23 4571 c.4230G>A c.(4228-4230)aaG>aaA p.K1410K DSP_ENST00000418664.2_Intron NM_004415.2 NP_004406.2 P15924 DESP_HUMAN desmoplakin 1410 Central fibrous rod domain. cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural constituent of cytoskeleton biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5) 101 Ovarian(93;0.0584) all_hematologic(90;0.236) OV - Ovarian serous cystadenocarcinoma(45;0.000508) AAGAAATAAAGAGGCTGAAGA 0.502000 22 27 0 0 0.001523 0 0 SLC25A53 401612 broad.mit.edu 37 X 103349839 103349839 + Silent SNP C C A TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chrX:103349839C>A ENST00000357421.4 - 2 282 c.102G>T c.(100-102)ggG>ggT p.G34G NM_001012755.3 NP_001012773.2 Q5H9E4 MCAR6_HUMAN solute carrier family 25, member 53 34 transport integral to membrane|mitochondrial inner membrane TGGAAACGGCCCCAAGGGCAT 0.542000 10 55 0.000442599 0.000572231 0.006214 1 0 TMTC3 160418 broad.mit.edu 37 12 88548081 88548081 + Missense_Mutation SNP G G T TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr12:88548081G>T ENST00000266712.6 + 4 645 c.425G>T c.(424-426)gGa>gTa p.G142V NM_181783.3 NP_861448.2 Q6ZXV5 TMTC3_HUMAN transmembrane and tetratricopeptide repeat containing 3 142 integral to membrane binding NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|liver(1)|lung(12)|prostate(4)|skin(1) 31 GGAGTTGTTGGAAGAGCAGAA 0.299000 17 20 1.02788e-11 1.64568e-11 0.004990 1 0 BTBD11 121551 broad.mit.edu 37 12 107937911 107937911 + Silent SNP G G C TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr12:107937911G>C ENST00000280758.5 + 3 2013 c.1485G>C c.(1483-1485)gtG>gtC p.V495V BTBD11_ENST00000420571.2_Silent_p.V495V|BTBD11_ENST00000490090.2_Silent_p.V495V NM_001018072.1 NP_001018082.1 A6QL63 BTBDB_HUMAN BTB (POZ) domain containing 11 495 integral to membrane DNA binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 53 ACCTCCAGGTGGAAAGGTAAG 0.567000 13 20 0 0 0.001855 0 0 KCNH2 3757 broad.mit.edu 37 7 150647303 150647303 + Missense_Mutation SNP C C A rs149588350 TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr7:150647303C>A ENST00000392968.2 - 7 3183 c.2063G>T c.(2062-2064)cGg>cTg p.R688L KCNH2_ENST00000430723.3_Missense_Mutation_p.R784L|KCNH2_ENST00000262186.5_Missense_Mutation_p.R784L|KCNH2_ENST00000330883.4_Missense_Mutation_p.R444L Q12809 KCNH2_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 2 784 blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent voltage-gated potassium channel complex delayed rectifier potassium channel activity|two-component sensor activity NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1) 42 all_neural(206;0.219) OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661) GATGGAGCCCCGGGAGATGAA 0.647000 28 57 3.73148e-12 6.00535e-12 0.007291 1 0 STRN 6801 broad.mit.edu 37 2 37132762 37132762 + Splice_Site SNP C C A TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr2:37132762C>A ENST00000263918.4 - 4 421 c.e4-1 STRN_ENST00000379213.2_Splice_Site NM_003162.3 NP_003153.2 O43815 STRN_HUMAN striatin, calmodulin binding protein dendrite development|locomotory behavior|negative regulation of cell proliferation|tight junction assembly|Wnt receptor signaling pathway cytoplasm|dendritic spine|neuronal cell body|postsynaptic density|postsynaptic membrane|tight junction armadillo repeat domain binding|calmodulin binding|estrogen receptor binding|protein complex binding|protein phosphatase 2A binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 33 Ovarian(717;0.0129)|all_hematologic(82;0.21) TTACCTTCATCTAGAAAACAT 0.333000 11 48 2.80697e-09 4.21046e-09 0.000978 1 0 OR4C6 219432 broad.mit.edu 37 11 55433305 55433305 + Nonsense_Mutation SNP C C A TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr11:55433305C>A ENST00000314259.3 + 1 692 c.663C>A c.(661-663)tgC>tgA p.C221* NM_001004704.1 NP_001004704.1 Q8NH72 OR4C6_HUMAN olfactory receptor, family 4, subfamily C, member 6 221 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 71 TCATCCTATGCTCCCTGAAGT 0.507000 29 53 1.75199e-13 2.94219e-13 0.007291 1 0 KRAS 3845 broad.mit.edu 37 12 25398285 25398285 + Missense_Mutation SNP C C A rs121913530 TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr12:25398285C>A ENST00000311936.3 - 2 225 c.34G>T c.(34-36)Ggt>Tgt p.G12C KRAS_ENST00000256078.4_Missense_Mutation_p.G12C|KRAS_ENST00000557334.1_Missense_Mutation_p.G12C|KRAS_ENST00000556131.1_Missense_Mutation_p.G12C NM_004985.3 NP_004976.2 P01116 RASK_HUMAN Kirsten rat sarcoma viral oncogene homolog 12 G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation). activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction plasma membrane GTP binding|GTPase activity|protein binding p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1) UBE2L3/KRAS(2) NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57) 25349 all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12) OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05) CCTACGCCACCAGCTCCAACT 0.348000 G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE) 119 Mis """pancreatic, colorectal, lung, thyroid, AML, others""" Noonan syndrome;Cardiofaciocutaneous syndrome TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6) 14 9 1.05317e-09 1.59524e-09 0.002450 1 0 DMD 1756 broad.mit.edu 37 X 32490369 32490369 + Missense_Mutation SNP C C A TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chrX:32490369C>A ENST00000357033.4 - 22 3067 c.2861G>T c.(2860-2862)tGg>tTg p.W954L DMD_ENST00000378677.2_Missense_Mutation_p.W950L NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2 NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1 P11532 DMD_HUMAN dystrophin 954 muscle filament sliding|peptide biosynthetic process cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2) 77 all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203) CTGCTGGACCCATGTCCTGAT 0.428000 23 35 6.21321e-17 1.10338e-16 0.002780 1 0 CAMTA1 23261 broad.mit.edu 37 1 7723976 7723976 + Missense_Mutation SNP C C T TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr1:7723976C>T ENST00000303635.7 + 9 1576 c.1369C>T c.(1369-1371)Ccc>Tcc p.P457S CAMTA1_ENST00000439411.2_Missense_Mutation_p.P457S NM_015215.2 NP_056030.1 Q9Y6Y1 CMTA1_HUMAN calmodulin binding transcription activator 1 457 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) GTCCATGCTGCCCACCAACGT 0.607000 T WWTR1 epitheliod hemangioendothelioma 11 83 0 0 0.008291 0 0 OR51I2 390064 broad.mit.edu 37 11 5474928 5474928 + Missense_Mutation SNP T T A TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr11:5474928T>A ENST00000341449.2 + 1 291 c.210T>A c.(208-210)gaT>gaA p.D70E HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron NM_001004754.2 NP_001004754.1 Q9H344 O51I2_HUMAN olfactory receptor, family 51, subfamily I, member 2 70 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(1) 29 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;1.09e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135) CCTTCAGTGATGTGGCCATAT 0.522000 20 52 0 0 0.008871 0 0 STXBP6 29091 broad.mit.edu 37 14 25326295 25326295 + Missense_Mutation SNP C C A TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr14:25326295C>A ENST00000323944.5 - 3 674 c.223G>T c.(223-225)Gtt>Ttt p.V75F STXBP6_ENST00000358326.2_Missense_Mutation_p.V75F|STXBP6_ENST00000550887.1_Missense_Mutation_p.V75F|STXBP6_ENST00000419632.2_Missense_Mutation_p.V75F|STXBP6_ENST00000548724.1_Missense_Mutation_p.V75F|STXBP6_ENST00000396700.1_Missense_Mutation_p.V75F|STXBP6_ENST00000546511.1_Missense_Mutation_p.V75F Q8NFX7 STXB6_HUMAN syntaxin binding protein 6 (amisyn) 75 vesicle-mediated transport cytoplasm|integral to membrane central_nervous_system(2)|endometrium(2)|large_intestine(3) 7 GBM - Glioblastoma multiforme(265;0.0296) GATCTCCGAACAAATGATGTG 0.463000 45 78 9.84934e-19 1.81157e-18 0.002522 1 0 TRPM6 140803 broad.mit.edu 37 9 77403579 77403579 + Missense_Mutation SNP C C A TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr9:77403579C>A ENST00000451710.3 - 20 2855 c.2618G>T c.(2617-2619)tGg>tTg p.W873L TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000361255.3_Missense_Mutation_p.W868L|TRPM6_ENST00000376864.4_Missense_Mutation_p.W873L|TRPM6_ENST00000360774.1_Missense_Mutation_p.W873L|TRPM6_ENST00000449912.2_Missense_Mutation_p.W868L Q9BX84 TRPM6_HUMAN transient receptor potential cation channel, subfamily M, member 6 873 response to toxin integral to membrane ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 126 GCTAACAAGCCACTCCTGCAC 0.498000 38 13 5.43694e-19 1.006e-18 0.005524 1 0 TTN 7273 broad.mit.edu 37 2 179425863 179425863 + Silent SNP A A G TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr2:179425863A>G ENST00000589042.1 - 326 85220 c.84996T>C c.(84994-84996)gcT>gcC p.A28332A TTN_ENST00000359218.5_Silent_p.A19392A|TTN_ENST00000342175.6_Silent_p.A19459A|TTN_ENST00000342992.6_Silent_p.A25764A|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Silent_p.A19267A|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Silent_p.A26691A|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 26691 Fibronectin type-III 106. 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) CTGAGTCAGCAGCATTCCTTG 0.403000 22 64 0 0 0.001882 0 0 MAP2K7 5609 broad.mit.edu 37 19 7975916 7975916 + Missense_Mutation SNP G G T TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr19:7975916G>T ENST00000545011.1 + 7 918 c.853G>T c.(853-855)Gac>Tac p.D285Y MAP2K7_ENST00000397979.3_Missense_Mutation_p.D243Y|MAP2K7_ENST00000397981.3_Missense_Mutation_p.D243Y|MAP2K7_ENST00000397983.3_Missense_Mutation_p.D259Y O14733 MP2K7_HUMAN mitogen-activated protein kinase kinase 7 243 Protein kinase. activation of JUN kinase activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleus ATP binding|JUN kinase kinase activity|magnesium ion binding|protein binding|protein kinase binding|protein phosphatase binding|protein serine/threonine kinase activity|protein tyrosine kinase activity breast(2)|central_nervous_system(3)|endometrium(1)|large_intestine(8)|lung(4)|ovary(1) 19 Etoposide(DB00773) CATCCACCGCGACGTCAAGCC 0.632000 20 10 2.4624e-09 3.71161e-09 0.008871 1 0 SLC26A2 1836 broad.mit.edu 37 5 149357882 149357882 + Missense_Mutation SNP A A C TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr5:149357882A>C ENST00000286298.4 + 2 935 c.667A>C c.(667-669)Agc>Cgc p.S223R NM_000112.3 NP_000103.2 P50443 S26A2_HUMAN solute carrier family 26 (anion exchanger), member 2 223 integral to plasma membrane|membrane fraction secondary active sulfate transmembrane transporter activity NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(1)|prostate(2)|stomach(1) 18 KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147) TATGGTTGGCAGCACTGTAAC 0.353000 32 26 0 0 0.002836 0 0 RNMT 8731 broad.mit.edu 37 18 13737099 13737099 + Nonsense_Mutation SNP G G A TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr18:13737099G>A ENST00000383314.2 + 5 884 c.644G>A c.(643-645)tGg>tAg p.W215* RNMT_ENST00000262173.3_Nonsense_Mutation_p.W215*|RNMT_ENST00000592764.1_Nonsense_Mutation_p.W215*|RNMT_ENST00000589866.1_Nonsense_Mutation_p.W215*|RNMT_ENST00000535051.1_5'UTR|RNMT_ENST00000543302.2_Nonsense_Mutation_p.W215* O43148 MCES_HUMAN RNA (guanine-7-) methyltransferase 215 mRNA capping|transcription from RNA polymerase II promoter|viral reproduction nucleoplasm mRNA (guanine-N7-)-methyltransferase activity|RNA binding central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|skin(2) 18 TTGCTGAAATGGAAAAAAGGA 0.328000 13 22 0 0 0.003163 0 0 WDR96 80217 broad.mit.edu 37 10 105944862 105944862 + Missense_Mutation SNP C C G TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr10:105944862C>G ENST00000357060.3 - 16 2168 c.2053G>C c.(2053-2055)Ggg>Cgg p.G685R WDR96_ENST00000278064.2_Missense_Mutation_p.G616R|WDR96_ENST00000428666.1_Missense_Mutation_p.G686R NM_025145.5 NP_079421.5 Q8NDM7 WDR96_HUMAN WD repeat domain 96 685 NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 72 GACTGAATCCCATGACCCTGG 0.403000 3 51 0 0 0.004672 0 0 SIX2 10736 broad.mit.edu 37 2 45233362 45233362 + Missense_Mutation SNP G G T TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr2:45233362G>T ENST00000303077.6 - 2 1142 c.823C>A c.(823-825)Cag>Aag p.Q275K NM_016932.4 NP_058628.3 Q9NPC8 SIX2_HUMAN SIX homeobox 2 275 nucleus sequence-specific DNA binding transcription factor activity endometrium(6)|large_intestine(3)|lung(8)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2) 22 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) ATGGAGTCCTGCAGGCCATGG 0.642000 9 80 2.52707e-12 4.10981e-12 0.006214 1 0 RP11-252A24.2 0 broad.mit.edu 37 16 74394620 74394620 + RNA SNP G G A TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr16:74394620G>A ENST00000429810.2 - 0 345 CTCCACAGACGACCACCTGTG 0.582000 22 43 0 0 0.002299 0 0 LAMC3 10319 broad.mit.edu 37 9 133920910 133920910 + Splice_Site SNP G G T TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr9:133920910G>T ENST00000361069.4 + 8 1515 c.e8-1 LAMC3_ENST00000480883.1_Splice_Site NM_006059.3 NP_006050.3 Q9Y6N6 LAMC3_HUMAN laminin, gamma 3 cell adhesion basement membrane|membrane structural molecule activity endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3) 69 all_hematologic(7;0.0028) Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551) CTCCATTTCAGATGTCGCCCG 0.607000 11 38 3.27435e-08 4.70593e-08 0.002450 1 0 USP40 55230 broad.mit.edu 37 2 234436148 234436148 + Missense_Mutation SNP C C A TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr2:234436148C>A ENST00000251722.6 - 13 1744 c.1627G>T c.(1627-1629)Gct>Tct p.A543S USP40_ENST00000450966.1_Missense_Mutation_p.A555S|USP40_ENST00000427112.2_Missense_Mutation_p.A543S Q9NVE5 UBP40_HUMAN ubiquitin specific peptidase 40 543 ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity breast(1)|endometrium(6)|kidney(5)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 30 Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0539) Epithelial(121;1.71e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000407)|Lung(119;0.00277)|LUSC - Lung squamous cell carcinoma(224;0.00646) GGGTGCAGAGCCCCATTGAAG 0.403000 15 15 1.67942e-08 2.47114e-08 0.006122 1 0 CYCS 54205 broad.mit.edu 37 7 25163735 25163735 + Missense_Mutation SNP C C G TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr7:25163735C>G ENST00000305786.2 - 2 173 c.4G>C c.(4-6)Ggt>Cgt p.G2R CYCS_ENST00000409764.1_Missense_Mutation_p.G2R|CYCS_ENST00000409409.1_Missense_Mutation_p.G2R NM_018947.5 NP_061820.1 P99999 CYC_HUMAN cytochrome c, somatic 2 activation of caspase activity by cytochrome c|DNA fragmentation involved in apoptotic nuclear change|induction of apoptosis by intracellular signals|respiratory electron transport chain|transport cytosol|mitochondrial inner membrane|mitochondrial intermembrane space|mitochondrial matrix|nucleus|protein phosphatase type 2A complex|respiratory chain electron transporter, transferring electrons from CoQH2-cytochrome c reductase complex and cytochrome c oxidase complex activity|heme binding|protein binding endometrium(1)|lung(1)|ovary(1)|upper_aerodigestive_tract(1) 4 Melatonin(DB01065)|Minocycline(DB01017) TCAACATCACCCATATTTAAT 0.383000 5 41 0 0 0.001168 0 0 STS 412 broad.mit.edu 37 X 7177623 7177623 + Missense_Mutation SNP G G A TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chrX:7177623G>A ENST00000217961.4 + 5 851 c.631G>A c.(631-633)Gtg>Atg p.V211M NM_000351.4 NP_000342.2 P08842 STS_HUMAN steroid sulfatase (microsomal), isozyme S 211 female pregnancy|steroid catabolic process endoplasmic reticulum membrane|endosome|Golgi apparatus|integral to membrane|lysosome|microsome|plasma membrane metal ion binding|steryl-sulfatase activity NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|prostate(2)|skin(1) 27 Colorectal(8;0.0136)|Medulloblastoma(8;0.184) Estrone(DB00655) GCTACTCCACGTGCCTCTAGG 0.552000 Ichthyosis 18 77 0 0 0.008871 0 0 ANO1 55107 broad.mit.edu 37 11 69972201 69972201 + Missense_Mutation SNP G G C TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr11:69972201G>C ENST00000355303.5 + 10 1302 c.997G>C c.(997-999)Gcc>Ccc p.A333P ANO1_ENST00000531349.1_Missense_Mutation_p.A68P|ANO1_ENST00000538023.1_Missense_Mutation_p.A333P|ANO1_ENST00000316296.5_Missense_Mutation_p.A305P|ANO1_ENST00000398543.2_Missense_Mutation_p.A217P|ANO1_ENST00000530676.1_Missense_Mutation_p.A217P NM_018043.5 NP_060513.5 Q5XXA6 ANO1_HUMAN anoctamin 1, calcium activated chloride channel 333 multicellular organismal development chloride channel complex|cytoplasm|plasma membrane intracellular calcium activated chloride channel activity central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1) 29 CCTGTACTTCGCCTGGCTGGG 0.537000 20 39 0 0 0.002299 0 0 GIMAP6 474344 broad.mit.edu 37 7 150324854 150324854 + Missense_Mutation SNP C C T TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr7:150324854C>T ENST00000328902.5 - 3 1048 c.832G>A c.(832-834)Gaa>Aaa p.E278K GIMAP6_ENST00000493969.1_3'UTR NM_001244072.1|NM_024711.5 NP_001231001.1|NP_078987.3 Q6P9H5 GIMA6_HUMAN GTPase, IMAP family member 6 278 GTP binding endometrium(4)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 29 OV - Ovarian serous cystadenocarcinoma(82;0.0145) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) TCCTCAGATTCCTTCTGGATC 0.572000 16 62 0 0 0.004007 0 0 KCNB2 9312 broad.mit.edu 37 8 73480446 73480446 + Missense_Mutation SNP G G T TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr8:73480446G>T ENST00000523207.1 + 2 1065 c.477G>T c.(475-477)atG>atT p.M159I NM_004770.2 NP_004761.2 Q92953 KCNB2_HUMAN potassium voltage-gated channel, Shab-related subfamily, member 2 159 regulation of smooth muscle contraction voltage-gated potassium channel complex delayed rectifier potassium channel activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1) 85 Breast(64;0.137) Epithelial(68;0.105) CAGAGACTATGCGAGAGCGAG 0.468000 39 56 2.35958e-20 4.47308e-20 0.002222 1 0 OTC 5009 broad.mit.edu 37 X 38268137 38268137 + Silent SNP C C A TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chrX:38268137C>A ENST00000039007.4 + 8 878 c.726C>A c.(724-726)acC>acA p.T242T TM4SF2_ENST00000465127.1_Intron NM_000531.5 NP_000522.3 P00480 OTC_HUMAN ornithine carbamoyltransferase 242 T -> I (in OTCD; late onset). arginine biosynthetic process|urea cycle mitochondrial matrix|ornithine carbamoyltransferase complex ornithine carbamoyltransferase activity breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 22 L-Citrulline(DB00155)|L-Ornithine(DB00129) AGAATGGTACCAAGCTGTTGC 0.393000 19 55 1.67942e-08 2.47114e-08 0.006122 1 0 LRRC7 57554 broad.mit.edu 37 1 70300548 70300548 + Missense_Mutation SNP G G C TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr1:70300548G>C ENST00000310961.5 + 7 905 c.487G>C c.(487-489)Gga>Cga p.G163R LRRC7_ENST00000415775.2_5'UTR|LRRC7_ENST00000370958.1_Missense_Mutation_p.G196R|LRRC7_ENST00000035383.5_Missense_Mutation_p.G158R Q96NW7 LRRC7_HUMAN leucine rich repeat containing 7 158 centrosome|focal adhesion|nucleolus protein binding breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 162 AGCCAATTTTGGAAGGTAAGA 0.388000 17 32 0 0 0.004990 0 0 COL6A5 256076 broad.mit.edu 37 3 130159301 130159301 + Missense_Mutation SNP T T A TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr3:130159301T>A ENST00000265379.6 + 35 6613 c.6119T>A c.(6118-6120)cTa>cAa p.L2040Q COL6A5_ENST00000432398.2_Missense_Mutation_p.L2040Q A8TX70 CO6A5_HUMAN collagen, type VI, alpha 5 2040 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 AACCAACTCCTAATGAAGAAT 0.408000 14 67 0 0 0.003163 0 0 OR8D2 283160 broad.mit.edu 37 11 124189303 124189303 + Missense_Mutation SNP G G T TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr11:124189303G>T ENST00000357438.2 - 1 881 c.791C>A c.(790-792)tCc>tAc p.S264Y NM_001002918.1 NP_001002918.1 Q9GZM6 OR8D2_HUMAN olfactory receptor, family 8, subfamily D, member 2 264 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 25 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0525) AGTAGTGCTGGAAGGGGGCTT 0.448000 35 72 1.04594e-18 1.9124e-18 0.006230 1 0 MC1R 4157 broad.mit.edu 37 16 89985766 89985766 + Missense_Mutation SNP C C T TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr16:89985766C>T ENST00000555427.1 + 3 2403 c.100C>T c.(100-102)Cgg>Tgg p.R34W TUBB3_ENST00000556922.1_Missense_Mutation_p.R34W|MC1R_ENST00000555147.1_Missense_Mutation_p.R34W melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor) endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1) 11 all_cancers(9;1.69e-11)|Lung NSC(15;8.94e-06)|all_lung(18;1.39e-05)|all_neural(9;0.00581)|all_hematologic(23;0.0194) BRCA - Breast invasive adenocarcinoma(80;0.0273) GACAGGAGCCCGGTGCCTGGA 0.647000 Melanoma, Familial Clustering of 3 27 0 0 0.004672 0 0 SLITRK2 84631 broad.mit.edu 37 X 144904663 144904663 + Silent SNP G G A TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chrX:144904663G>A ENST00000370490.1 + 1 4975 c.720G>A c.(718-720)gaG>gaA p.E240E SLITRK2_ENST00000434188.2_Silent_p.E240E|SLITRK2_ENST00000428560.2_Silent_p.E240E|SLITRK2_ENST00000413937.2_Silent_p.E240E|SLITRK2_ENST00000447897.2_Silent_p.E240E Q9H156 SLIK2_HUMAN SLIT and NTRK-like family, member 2 240 LRRCT 1. integral to membrane NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 86 Acute lymphoblastic leukemia(192;6.56e-05) TTGTGGGAGAGATTGTCTGTG 0.488000 42 85 0 0 0.006999 0 0 DDIT4 54541 broad.mit.edu 37 10 74034719 74034719 + Missense_Mutation SNP C C T TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr10:74034719C>T ENST00000307365.3 + 3 673 c.472C>T c.(472-474)Cac>Tac p.H158Y RP11-442H21.2_ENST00000491934.2_RNA NM_019058.2 NP_061931.1 Q9NX09 DDIT4_HUMAN DNA-damage-inducible transcript 4 158 apoptosis cervix(1)|endometrium(2)|lung(5)|pancreas(1)|prostate(2)|urinary_tract(1) 12 CAAGAGCTGCCACAGCGTGGG 0.687000 OREG0020262 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 9 29 0 0 0.006214 0 0 PANX1 24145 broad.mit.edu 37 11 93913424 93913424 + Splice_Site SNP G G T TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr11:93913424G>T ENST00000227638.3 + 4 1586 c.e4+1 PANX1_ENST00000436171.2_Splice_Site NM_015368.3 NP_056183.2 Q96RD7 PANX1_HUMAN pannexin 1 positive regulation of interleukin-1 beta secretion|protein hexamerization|synaptic transmission bleb|endoplasmic reticulum membrane|gap junction|integral to membrane calcium channel activity|gap junction hemi-channel activity|leak channel activity|receptor binding endometrium(2)|large_intestine(2)|lung(13)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) GAGCTCCAAGGTAGGGTTTGC 0.507000 3 20 0.00024832 0.000323759 0.000248 1 0 SPATA31A6 389730 broad.mit.edu 37 9 43627331 43627331 + Missense_Mutation SNP A A T TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr9:43627331A>T ENST00000332857.6 - 4 1384 c.1356T>A c.(1354-1356)aaT>aaA p.N452K NM_001145196.1 NP_001138668.1 SPATA31 subfamily A, member 6 TTGGGCAGACATTGGACATTT 0.517000 21 469 0 0 0.002299 0 0 FOXO1 2308 broad.mit.edu 37 13 41134854 41134854 + Silent SNP G G A TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr13:41134854G>A ENST00000379561.5 - 2 1158 c.774C>T c.(772-774)gaC>gaT p.D258D NM_002015.3 NP_002006.2 Q12778 FOXO1_HUMAN forkhead box O1 258 anti-apoptosis|blood vessel development|embryo development|endocrine pancreas development|insulin receptor signaling pathway|negative regulation of stress-activated MAPK cascade|nerve growth factor receptor signaling pathway|pattern specification process|phosphatidylinositol-mediated signaling|positive regulation of transcription from RNA polymerase II promoter|regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|response to DNA damage stimulus|tissue development cytosol|transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|protein kinase binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding PAX7/FOXO1(197)|PAX3/FOXO1(749) central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1) 20 Lung NSC(96;1.18e-05)|Breast(139;0.00394)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(188;0.194) all cancers(112;7.32e-09)|Epithelial(112;2.87e-06)|OV - Ovarian serous cystadenocarcinoma(117;6.98e-05)|GBM - Glioblastoma multiforme(144;0.00394)|BRCA - Breast invasive adenocarcinoma(63;0.0815) TACTGTTGTTGTCCATGGATG 0.522000 48 27 0 0 0.003610 0 0 PCDHGA4 56111 broad.mit.edu 37 5 140736223 140736223 + Nonsense_Mutation SNP C C T TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr5:140736223C>T ENST00000571252.1 + 1 1456 c.1456C>T c.(1456-1458)Cga>Tga p.R486* PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron NM_018917.2 NP_061740.1 endometrium(1)|kidney(1)|lung(3) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGACAATGCCCGAATCACTTA 0.507000 37 113 0 0 0.004289 0 0 OTOP1 133060 broad.mit.edu 37 4 4214688 4214688 + Nonsense_Mutation SNP G G T TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr4:4214688G>T ENST00000296358.4 - 2 471 c.447C>A c.(445-447)tgC>tgA p.C149* NM_177998.1 NP_819056.1 Q7RTM1 OTOP1_HUMAN otopetrin 1 149 biomineral tissue development extracellular space|integral to membrane NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 34 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) CAATTTTAAGGCATCCCAGGA 0.408000 6 16 3.59834e-05 4.81336e-05 0.001168 1 0 NKTR 4820 broad.mit.edu 37 3 42685392 42685392 + Splice_Site SNP A A T TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr3:42685392A>T ENST00000232978.8 + 16 4387 c.e16-1 RP4-613B23.1_ENST00000445452.1_RNA|RP4-613B23.1_ENST00000434363.1_RNA|RP4-613B23.1_ENST00000438017.1_RNA NM_005385.3 NP_005376.2 P30414 NKTR_HUMAN natural killer-tumor recognition sequence protein folding membrane cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 41 KIRC - Kidney renal clear cell carcinoma(284;0.24) CCGTTAAAGCAGGTCCTACAC 0.443000 12 18 0 0 0.001368 0 0 SLC38A9 153129 broad.mit.edu 37 5 54968503 54968503 + Missense_Mutation SNP G G C TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr5:54968503G>C ENST00000539768.1 - 2 133 c.134C>G c.(133-135)aCa>aGa p.T45R SLC38A9_ENST00000515629.1_5'UTR|SLC38A9_ENST00000396865.2_Missense_Mutation_p.T45R|SLC38A9_ENST00000318672.3_Missense_Mutation_p.T45R|SLC38A9_ENST00000512595.1_Missense_Mutation_p.T18R|SLC38A9_ENST00000416547.2_Intron Q8NBW4 S38A9_HUMAN solute carrier family 38, member 9 45 amino acid transport|sodium ion transport integral to membrane endometrium(1)|kidney(1)|large_intestine(3)|lung(3) 8 Lung NSC(810;0.00122)|Prostate(74;0.0376)|Breast(144;0.181) CACGATGTTTGTGGGCTCTAT 0.418000 3 42 0 0 0.004672 0 0 BMS1P20 96610 broad.mit.edu 37 22 22664141 22664141 + RNA SNP G G A TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr22:22664141G>A ENST00000426066.1 + 0 664 NR_027293.1 AAATTTGAAGGTGCTGTGATT 0.448000 4 57 0 0 0.000248 0 0 KIAA1210 57481 broad.mit.edu 37 X 118250553 118250553 + Missense_Mutation SNP G G T TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chrX:118250553G>T ENST00000402510.2 - 4 555 c.556C>A c.(556-558)Cag>Aag p.Q186K NM_020721.1 NP_065772.1 Q9ULL0 K1210_HUMAN KIAA1210 186 breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 64 TCTTCTTCCTGGGTATCTTCG 0.418000 9 21 0.00448238 0.00551815 0.004482 1 0 EPB41L4A 64097 broad.mit.edu 37 5 111595633 111595633 + Missense_Mutation SNP C C A TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr5:111595633C>A ENST00000261486.5 - 8 962 c.686G>T c.(685-687)gGt>gTt p.G229V NM_022140.3 NP_071423.3 Q9HCS5 E41LA_HUMAN erythrocyte membrane protein band 4.1 like 4A 229 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) CACAACAACACCAACCGGAGT 0.378000 13 15 0.00010058 0.000132817 0.001368 1 0 TTK 7272 broad.mit.edu 37 6 80744812 80744812 + Missense_Mutation SNP G G C TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr6:80744812G>C ENST00000509894.1 + 15 2551 c.1722G>C c.(1720-1722)ttG>ttC p.L574F TTK_ENST00000230510.3_Missense_Mutation_p.L574F|TTK_ENST00000369798.2_Missense_Mutation_p.L575F P33981 TTK_HUMAN TTK protein kinase 575 Protein kinase. mitotic cell cycle spindle assembly checkpoint|mitotic spindle organization|positive regulation of cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation spindle ATP binding|identical protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity endometrium(4)|kidney(2)|large_intestine(12)|lung(22)|ovary(7)|pancreas(1)|prostate(1)|stomach(3)|urinary_tract(1) 53 all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2) BRCA - Breast invasive adenocarcinoma(397;0.0321) TAGCTTATTTGAATAAACTAC 0.279000 15 52 0 0 0.004990 0 0 EMR2 30817 broad.mit.edu 37 19 14865885 14865885 + Nonsense_Mutation SNP C C A TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr19:14865885C>A ENST00000315576.3 - 14 1922 c.1471G>T c.(1471-1473)Gga>Tga p.G491* EMR2_ENST00000596991.2_Nonsense_Mutation_p.G480*|EMR2_ENST00000353005.1_Nonsense_Mutation_p.G349*|EMR2_ENST00000392964.3_Missense_Mutation_p.W155L|EMR2_ENST00000392967.2_Nonsense_Mutation_p.G480*|EMR2_ENST00000601345.1_Nonsense_Mutation_p.G480*|EMR2_ENST00000594076.1_Nonsense_Mutation_p.G398*|EMR2_ENST00000346057.1_Nonsense_Mutation_p.G442*|EMR2_ENST00000594294.1_Nonsense_Mutation_p.G442*|EMR2_ENST00000595839.1_Nonsense_Mutation_p.G349*|EMR2_ENST00000353876.1_Nonsense_Mutation_p.G398*|EMR2_ENST00000392965.3_Intron NM_013447.2 NP_038475.2 Q9UHX3 EMR2_HUMAN egf-like module containing, mucin-like, hormone receptor-like 2 491 GPS. cell adhesion|neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1) 48 TGACCACATCCATTCTGGCCA 0.592000 36 16 2.05212e-20 3.91423e-20 0.005524 1 0 MTMR8 55613 broad.mit.edu 37 X 63569937 63569937 + Missense_Mutation SNP T T C TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chrX:63569937T>C ENST00000374852.3 - 5 549 c.482A>G c.(481-483)tAc>tGc p.Y161C MTMR8_ENST00000453546.1_Missense_Mutation_p.Y161C NM_017677.3 NP_060147.2 Q96EF0 MTMR8_HUMAN myotubularin related protein 8 161 Myotubularin phosphatase. nuclear envelope protein tyrosine phosphatase activity p.0?(1) breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|skin(3) 37 TTCAGGAGGGTAGGTGCTGCA 0.353000 25 52 0 0 0.005443 0 0 TLR2 7097 broad.mit.edu 37 4 154625452 154625452 + Missense_Mutation SNP A A T TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr4:154625452A>T ENST00000260010.6 + 1 2801 c.1393A>T c.(1393-1395)Agc>Tgc p.S465C NM_003264.3 NP_003255.2 O60603 TLR2_HUMAN toll-like receptor 2 465 cellular response to diacyl bacterial lipopeptide|cellular response to lipoteichoic acid|cellular response to triacyl bacterial lipopeptide|detection of diacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|I-kappaB phosphorylation|induction of apoptosis|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of interferon-beta production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of Wnt receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway cytoplasm|integral to plasma membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex Gram-positive bacterial cell surface binding|lipopolysaccharide receptor activity|peptidoglycan binding|protein heterodimerization activity|transmembrane receptor activity|triacyl lipopeptide binding breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1) 29 all_hematologic(180;0.093) Renal(120;0.117) TTTAGATGTTAGCAACAACAA 0.368000 34 27 0 0 0.003271 0 0 VWF 7450 broad.mit.edu 37 12 6127901 6127901 + Silent SNP G G T TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr12:6127901G>T ENST00000261405.5 - 28 4937 c.4683C>A c.(4681-4683)atC>atA p.I1561I NM_000552.3 NP_000543.2 P04275 VWF_HUMAN von Willebrand factor 1561 VWFA 2. blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5) 129 Antihemophilic Factor(DB00025) CCCGCTGCAGGATGTCCCCTT 0.617000 17 10 4.96729e-08 7.07324e-08 0.008871 1 0 RPL6 6128 broad.mit.edu 37 12 112843710 112843710 + Missense_Mutation SNP T T G rs148929822 byFrequency TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr12:112843710T>G ENST00000424576.2 - 6 846 c.661A>C c.(661-663)Aag>Cag p.K221Q RPL6_ENST00000202773.9_Missense_Mutation_p.K221Q NM_001024662.1 NP_001019833.1 Q02878 RL6_HUMAN ribosomal protein L6 221 endocrine pancreas development|regulation of transcription, DNA-dependent|translational elongation|translational termination|viral transcription cytosolic large ribosomal subunit DNA binding|RNA binding|structural constituent of ribosome p.K221Q(1) cervix(1)|large_intestine(6)|lung(3) 10 TTCCGCAGCTTCTTCTTCTTG 0.423000 14 37 0 0 0.002450 0 0 ZCCHC11 23318 broad.mit.edu 37 1 52926859 52926859 + Missense_Mutation SNP C C A TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr1:52926859C>A ENST00000371544.3 - 19 3530 c.3268G>T c.(3268-3270)Gct>Tct p.A1090S ZCCHC11_ENST00000257177.4_Missense_Mutation_p.A1090S NM_001009881.2|NM_015269.2 NP_001009881.1|NP_056084.1 Q5TAX3 TUT4_HUMAN zinc finger, CCHC domain containing 11 1090 miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance cytoplasm|nucleolus nucleic acid binding|protein binding|RNA uridylyltransferase activity|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 GGATCAATAGCTGCATAAGTA 0.279000 37 43 1.15183e-24 2.31114e-24 0.002222 1 0 MC5R 4161 broad.mit.edu 37 18 13826520 13826520 + Silent SNP C C A TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr18:13826520C>A ENST00000324750.3 + 1 978 c.756C>A c.(754-756)gcC>gcA p.A252A NM_005913.2 NP_005904.1 P33032 MC5R_HUMAN melanocortin 5 receptor 252 G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process integral to plasma membrane melanocortin receptor activity|protein binding 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 TGTGCTGGGCCCCGTTCTTCC 0.572000 26 94 9.57634e-11 1.51748e-10 0.003330 1 0 SYT9 143425 broad.mit.edu 37 11 7441778 7441778 + Missense_Mutation SNP A A T TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr11:7441778A>T ENST00000318881.6 + 6 1616 c.1379A>T c.(1378-1380)aAc>aTc p.N460I NM_175733.3 NP_783860.1 Q86SS6 SYT9_HUMAN synaptotagmin IX 460 cell junction|integral to membrane|synaptic vesicle membrane metal ion binding|transporter activity NS(1)|endometrium(2)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 38 Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949) CAAGTAGGCAACGAGGCTGAG 0.463000 8 15 0 0 0.003080 0 0 ARID1B 57492 broad.mit.edu 37 6 157521999 157521999 + Missense_Mutation SNP C C T TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr6:157521999C>T ENST00000346085.5 + 18 4272 c.4271C>T c.(4270-4272)cCg>cTg p.P1424L ARID1B_ENST00000367148.1_Missense_Mutation_p.P1464L|ARID1B_ENST00000350026.5_Missense_Mutation_p.P1411L|ARID1B_ENST00000275248.4_Missense_Mutation_p.P1406L NM_020732.3 NP_065783.3 Q8NFD5 ARI1B_HUMAN AT rich interactive domain 1B (SWI1-like) 1411 chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent SWI/SNF complex DNA binding|protein binding|transcription coactivator activity NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3) 81 Breast(66;0.000162)|Ovarian(120;0.0265) OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05) GGCCAGTACCCGTATCCCTAC 0.627000 4 33 0 0 0.000602 0 0 TRBV5-6 28609 broad.mit.edu 37 7 142131873 142131873 + RNA SNP C C A TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr7:142131873C>A ENST00000390375.2 - 0 45 GAGCCCGGGGCCCATGGCACA 0.607000 20 40 8.10497e-08 1.14882e-07 0.001523 1 0 ADAMTS3 9508 broad.mit.edu 37 4 73148902 73148902 + Missense_Mutation SNP T T G TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr4:73148902T>G ENST00000286657.4 - 22 3605 c.3569A>C c.(3568-3570)aAg>aCg p.K1190T NM_014243.2 NP_055058.2 O15072 ATS3_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 3 1190 collagen catabolic process|collagen fibril organization|proteolysis proteinaceous extracellular matrix heparin binding|metalloendopeptidase activity|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 76 Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) GTCAATGATCTTTCCATCTTT 0.448000 11 77 0 0 0.001368 0 0 OR52L1 338751 broad.mit.edu 37 11 6007176 6007176 + Missense_Mutation SNP C C A TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr11:6007176C>A ENST00000332249.4 - 1 1039 c.985G>T c.(985-987)Gat>Tat p.D329Y NM_001005173.2 NP_001005173.2 Q8NGH7 O52L1_HUMAN olfactory receptor, family 52, subfamily L, member 1 329 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|pancreas(1)|skin(3)|soft_tissue(1) 30 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;1.98e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135) TCAGATCAATCCTTTTGTGTA 0.483000 4 6 0.000602214 0.000765779 0.000602 1 0 PDZRN4 29951 broad.mit.edu 37 12 41967321 41967321 + Missense_Mutation SNP C C A TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr12:41967321C>A ENST00000298919.7 + 10 2348 c.1960C>A c.(1960-1962)Cgt>Agt p.R654S PDZRN4_ENST00000402685.2_Missense_Mutation_p.R914S|PDZRN4_ENST00000539469.2_Missense_Mutation_p.R656S Q6ZMN7 PZRN4_HUMAN PDZ domain containing ring finger 4 914 ubiquitin-protein ligase activity|zinc ion binding breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 77 all_cancers(12;0.000673) Lung NSC(34;0.0205)|all_lung(34;0.0264) CCTGAAGGAACGTGCCTTAAA 0.512000 24 48 3.08376e-08 4.47363e-08 0.003330 1 0 PTPRN 5798 broad.mit.edu 37 2 220161970 220161970 + Silent SNP C C A rs145338513 byFrequency TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr2:220161970C>A ENST00000295718.2 - 14 2313 c.2073G>T c.(2071-2073)acG>acT p.T691T PTPRN_ENST00000423636.2_Silent_p.T601T|PTPRN_ENST00000409251.3_Silent_p.T662T NM_002846.3 NP_002837.1 Q16849 PTPRN_HUMAN protein tyrosine phosphatase, receptor type, N 691 response to reactive oxygen species integral to plasma membrane transmembrane receptor protein tyrosine phosphatase activity breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 Renal(207;0.0474) Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875) TCATGTGTCCCGTGGAGATGT 0.662000 22 27 1.28384e-07 1.80321e-07 0.001882 1 0 CFAP54 144535 broad.mit.edu 37 12 97043823 97043823 + Missense_Mutation SNP A A T TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr12:97043823A>T ENST00000524981.3 + 2 198 c.198A>T c.(196-198)aaA>aaT p.K66N Q6ZTY8 CL063_HUMAN 40 breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2) 54 ATTTTATGAAAATCTTTTTAT 0.378000 15 26 0 0 0.002450 0 0 PCDHA13 56136 broad.mit.edu 37 5 140264024 140264024 + Missense_Mutation SNP C C T TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr5:140264024C>T ENST00000289272.2 + 1 2171 c.2171C>T c.(2170-2172)tCg>tTg p.S724L PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA13_ENST00000409494.1_Missense_Mutation_p.S724L|PCDHA6_ENST00000527624.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron NM_018904.2|NM_031865.1 NP_061727.1|NP_114071.1 NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2) 95 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTGCGGTGCTCGGCACCGCCC 0.657000 21 76 0 0 0.003954 0 0 ZNF85 7639 broad.mit.edu 37 19 21131729 21131729 + Missense_Mutation SNP T T C TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr19:21131729T>C ENST00000601023.1 + 2 878 c.232T>C c.(232-234)Tgt>Cgt p.C78R ZNF85_ENST00000345030.6_Missense_Mutation_p.C104R|ZNF85_ENST00000328178.8_Missense_Mutation_p.C137R Q03923 ZNF85_HUMAN zinc finger protein 85 137 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2) 20 ACTTAACCAATGTCTCACAGC 0.323000 11 46 0 0 0.000978 0 0 RIF1 55183 broad.mit.edu 37 2 152267818 152267818 + Missense_Mutation SNP A A T TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr2:152267818A>T ENST00000243326.4 + 2 632 c.149A>T c.(148-150)gAg>gTg p.E50V RIF1_ENST00000428287.2_Missense_Mutation_p.E50V|RIF1_ENST00000444746.2_Missense_Mutation_p.E50V|RIF1_ENST00000430328.2_Missense_Mutation_p.E50V|RIF1_ENST00000433166.2_Missense_Mutation_p.E50V|RIF1_ENST00000453091.2_Missense_Mutation_p.E50V Q5UIP0 RIF1_HUMAN RAP1 interacting factor homolog (yeast) 50 cell cycle|response to DNA damage stimulus chromosome, telomeric region|cytoplasm|nucleus|spindle binding NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 97 BRCA - Breast invasive adenocarcinoma(221;0.0429) ACAGAAATTGAGAAAAAACTT 0.299000 15 25 0 0 0.004007 0 0 CHST4 10164 broad.mit.edu 37 16 71571481 71571481 + Missense_Mutation SNP C C T TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr16:71571481C>T ENST00000338482.5 + 3 1244 c.901C>T c.(901-903)Cat>Tat p.H301Y CHST4_ENST00000572450.1_Missense_Mutation_p.H301Y|CHST4_ENST00000539698.3_Missense_Mutation_p.H301Y|ZNF19_ENST00000568446.1_Intron|RP11-510M2.9_ENST00000572693.1_RNA Q8NCG5 CHST4_HUMAN carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 4 301 cell-cell signaling|immune response|inflammatory response|N-acetylglucosamine metabolic process|protein sulfation integral to membrane|intrinsic to Golgi membrane|trans-Golgi network N-acetylglucosamine 6-O-sulfotransferase activity cervix(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|upper_aerodigestive_tract(1) 21 ATTCTTGCCCCATCTTCAGAC 0.562000 OREG0023923 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 16 34 0 0 0.004007 0 0 CDH10 1008 broad.mit.edu 37 5 24498613 24498613 + Missense_Mutation SNP G G A rs145457868 byFrequency TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr5:24498613G>A ENST00000264463.4 - 9 1916 c.1409C>T c.(1408-1410)aCa>aTa p.T470I CDH10_ENST00000502921.1_5'UTR NM_006727.3 NP_006718.2 Q9Y6N8 CAD10_HUMAN cadherin 10, type 2 (T2-cadherin) 470 Cadherin 4. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4) 185 STAD - Stomach adenocarcinoma(35;0.0556) CACGCGTGTTGTCTCTTTGGG 0.373000 HNSCC(23;0.051) 35 24 0 0 0.004289 0 0 S1PR1 1901 broad.mit.edu 37 1 101704965 101704965 + Missense_Mutation SNP G G T TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr1:101704965G>T ENST00000305352.6 + 2 800 c.425G>T c.(424-426)cGc>cTc p.R142L S1PR1_ENST00000475821.1_3'UTR NM_001400.4 NP_001391.2 P21453 S1PR1_HUMAN sphingosine-1-phosphate receptor 1 142 cell adhesion integral to membrane lysosphingolipid and lysophosphatidic acid receptor activity NS(1)|autonomic_ganglia(1)|breast(1)|large_intestine(7)|lung(23)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4) 43 GCCATTGAGCGCTATATCACA 0.547000 OREG0013620 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 41 86 2.47872e-24 4.94146e-24 0.002522 1 0 FOLH1 2346 broad.mit.edu 37 11 49208288 49208288 + Nonsense_Mutation SNP C C A TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr11:49208288C>A ENST00000340334.7 - 6 870 c.502G>T c.(502-504)Gaa>Taa p.E168* FOLH1_ENST00000533034.1_Nonsense_Mutation_p.E168*|FOLH1_ENST00000343844.4_5'UTR|FOLH1_ENST00000356696.3_Nonsense_Mutation_p.E183*|FOLH1_ENST00000256999.2_Nonsense_Mutation_p.E183* NM_001193471.1|NM_001193472.1 NP_001180400.1|NP_001180401.1 Q04609 FOLH1_HUMAN folate hydrolase (prostate-specific membrane antigen) 1 183 proteolysis cytoplasm|integral to plasma membrane|membrane fraction|nucleus carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 60 Capromab(DB00089)|L-Glutamic Acid(DB00142) AAGAAGTCTTCAGTTCGTGCA 0.383000 9 47 0.00448238 0.00551815 0.004482 1 0 GCAT 23464 broad.mit.edu 37 22 38211724 38211724 + Missense_Mutation SNP G G C TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr22:38211724G>C ENST00000323205.6 + 7 1010 c.947G>C c.(946-948)cGg>cCg p.R316P GCAT_ENST00000248924.6_Missense_Mutation_p.R290P NM_001171690.1 NP_001165161.1 O75600 KBL_HUMAN glycine C-acetyltransferase 290 biosynthetic process|cellular amino acid metabolic process glycine C-acetyltransferase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1) 12 Melanoma(58;0.045) Glycine(DB00145)|Pyridoxal Phosphate(DB00114) CAGCGCGCCCGGCCATACCTC 0.642000 49 67 0 0 0.003610 0 0 GALNTL6 442117 broad.mit.edu 37 4 173942643 173942643 + Nonsense_Mutation SNP G G A TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr4:173942643G>A ENST00000506823.1 + 12 2162 c.1505G>A c.(1504-1506)tGg>tAg p.W502* GALNTL6_ENST00000508122.1_Nonsense_Mutation_p.W485* NM_001034845.2 NP_001030017.2 Q49A17 GLTL6_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 6 502 Ricin B-type lectin. Golgi membrane|integral to membrane metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding p.?(1) breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(2)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(2) 45 ACCTTTGGATGGAGAGAAGAT 0.478000 31 43 0 0 0.002836 0 0 CHKA 1119 broad.mit.edu 37 11 67864558 67864558 + Silent SNP A A T TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr11:67864558A>T ENST00000265689.4 - 2 416 c.390T>A c.(388-390)ccT>ccA p.P130P CHKA_ENST00000356135.5_Silent_p.P130P NM_001277.2 NP_001268.2 P35790 CHKA_HUMAN choline kinase alpha 130 lipid transport|phosphatidylethanolamine biosynthetic process cytoplasm ATP binding|choline kinase activity|drug binding|ethanolamine kinase activity|signal transducer activity central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1) 13 Choline(DB00122) CTGTGGTGTCAGGTAGGGAGC 0.512000 16 30 0 0 0.006122 0 0 IQUB 154865 broad.mit.edu 37 7 123152037 123152037 + Nonsense_Mutation SNP C C A TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr7:123152037C>A ENST00000466202.1 - 2 934 c.358G>T c.(358-360)Gaa>Taa p.E120* IQUB_ENST00000434450.1_Nonsense_Mutation_p.E120*|IQUB_ENST00000488987.1_Intron|IQUB_ENST00000324698.6_Nonsense_Mutation_p.E120* Q8NA54 IQUB_HUMAN IQ motif and ubiquitin domain containing 120 breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1) 45 TGCAAAGATTCCTTTACAGAC 0.353000 13 24 3.27435e-08 4.70593e-08 0.002450 1 0 OR4X1 390113 broad.mit.edu 37 11 48285577 48285577 + Silent SNP C C T TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr11:48285577C>T ENST00000320048.1 + 1 165 c.165C>T c.(163-165)tcC>tcT p.S55S NM_001004726.1 NP_001004726.1 Q8NH49 OR4X1_HUMAN olfactory receptor, family 4, subfamily X, member 1 (gene/pseudogene) 55 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(1) 28 TGCTCACCTCCCCCATGTATT 0.478000 16 27 0 0 0.006122 0 0 SI 6476 broad.mit.edu 37 3 164727105 164727105 + Missense_Mutation SNP A A G TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr3:164727105A>G ENST00000264382.3 - 35 4203 c.4141T>C c.(4141-4143)Ttt>Ctt p.F1381L NM_001041.3 NP_001032.2 P14410 SUIS_HUMAN sucrase-isomaltase (alpha-glucosidase) 1381 Sucrase. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|brush border|Golgi apparatus|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) TCATTGTAAAAGTCCACAATT 0.368000 HNSCC(35;0.089) 3 62 0 0 0.004672 0 0 CABS1 85438 broad.mit.edu 37 4 71201618 71201618 + Missense_Mutation SNP G G T TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr4:71201618G>T ENST00000273936.4 + 1 921 c.862G>T c.(862-864)Gat>Tat p.D288Y NM_033122.3 NP_149113.3 Q96KC9 CABS1_HUMAN calcium-binding protein, spermatid-specific 1 288 flagellum calcium ion binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(4)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 TCTGCTAACTGATGAAGAAAC 0.413000 8 25 9.70103e-10 1.47666e-09 0.008291 1 0 C22orf42 150297 broad.mit.edu 37 22 32546391 32546391 + Missense_Mutation SNP A A G TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr22:32546391A>G ENST00000382097.3 - 7 641 c.569T>C c.(568-570)cTa>cCa p.L190P NM_001010859.1 NP_001010859.1 Q6IC83 CV042_HUMAN chromosome 22 open reading frame 42 190 NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(2) 24 AGAGACAGATAGGCTTTCACT 0.438000 39 39 0 0 0.006230 0 0 DCST2 127579 broad.mit.edu 37 1 155006119 155006119 + Missense_Mutation SNP G G A TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr1:155006119G>A ENST00000368424.3 - 1 117 c.59C>T c.(58-60)gCg>gTg p.A20V DCST2_ENST00000295536.5_Missense_Mutation_p.A20V NM_144622.2 NP_653223.2 Q5T1A1 DCST2_HUMAN DC-STAMP domain containing 2 20 integral to membrane breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|prostate(1)|skin(1) 38 all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) BRCA - Breast invasive adenocarcinoma(34;0.00034) CACAGCTCTCGCCATGCTAGG 0.602000 28 60 0 0 0.006320 0 0 TTN 7273 broad.mit.edu 37 2 179542483 179542483 + Missense_Mutation SNP G G A TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr2:179542483G>A ENST00000589042.1 - 146 34380 c.34156C>T c.(34156-34158)Cct>Tct p.P11386S TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P10142S|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.P11069S|TTN-AS1_ENST00000589830.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 11069 Glu-rich.|Pro-rich. 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) TCTTCTTCAGGTAGAACTTCC 0.428000 22 81 0 0 0.002780 0 0 HRH2 3274 broad.mit.edu 37 5 175111128 175111128 + Missense_Mutation SNP G G A TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr5:175111128G>A ENST00000231683.2 + 1 2665 c.892G>A c.(892-894)Ggg>Agg p.G298R HRH2_ENST00000377291.2_Missense_Mutation_p.G298R NM_022304.2 NP_071640.1 P25021 HRH2_HUMAN histamine receptor H2 298 G-protein signaling, coupled to cyclic nucleotide second messenger|immune response integral to plasma membrane histamine receptor activity p.G298W(1) breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(10)|ovary(1) 22 all_cancers(89;0.00805)|Renal(175;0.000269)|Lung NSC(126;0.00419)|all_lung(126;0.00711) Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183) Colorectal(1;0.0154)|COAD - Colon adenocarcinoma(1;0.149) Betazole(DB00272)|Cimetidine(DB00501)|Doxepin(DB01142)|Epinastine(DB00751)|Famotidine(DB00927)|Histamine Phosphate(DB00667)|Nizatidine(DB00585)|Ranitidine(DB00863) CTTCCGCACCGGGTACCAACA 0.567000 14 27 0 0 0.001855 0 0 TAF1 6872 broad.mit.edu 37 X 70618499 70618499 + Missense_Mutation SNP G G T TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chrX:70618499G>T ENST00000449580.1 + 24 3746 c.3695G>T c.(3694-3696)aGg>aTg p.R1232M TAF1_ENST00000423759.1_Missense_Mutation_p.R1253M|TAF1_ENST00000373790.4_Missense_Mutation_p.R1232M|TAF1_ENST00000276072.3_Missense_Mutation_p.R1253M P21675 TAF1_HUMAN TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa 1232 G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction MLL1 complex|transcription factor TFIID complex ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3) 124 Renal(35;0.156) all_lung(315;0.000321) GAGCAACTGAGGCGGCTTAAG 0.468000 10 34 0.000978159 0.00122866 0.000978 1 0 CNTN3 5067 broad.mit.edu 37 3 74316416 74316416 + Splice_Site SNP C C T TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr3:74316416C>T ENST00000263665.6 - 20 2845 c.e20+1 CNTN3_ENST00000477856.1_Splice_Site NM_020872.1 NP_065923.1 Q9P232 CNTN3_HUMAN contactin 3 (plasmacytoma associated) 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) AGAAAACTTACTTTATATCCT 0.338000 9 53 0 0 0.004482 0 0 CUBNP3 100421634 broad.mit.edu 37 10 45644202 45644202 + RNA SNP G G A TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr10:45644202G>A ENST00000427229.2 + 0 373 TACTTCTCCTGGCTATGATGG 0.393000 21 13 0 0 0.003954 0 0 CPT1B 1375 broad.mit.edu 37 22 51015406 51015406 + Silent SNP G G A TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr22:51015406G>A ENST00000360719.2 - 4 476 c.339C>T c.(337-339)tcC>tcT p.S113S CPT1B_ENST00000312108.7_Silent_p.S113S|CPT1B_ENST00000405237.3_Silent_p.S113S|CPT1B_ENST00000434492.2_5'UTR|CPT1B_ENST00000440709.1_Silent_p.S113S|CPT1B_ENST00000395650.2_Silent_p.S113S|CHKB-CPT1B_ENST00000453634.1_3'UTR|CPT1B_ENST00000457250.1_Silent_p.S113S NM_001145135.1|NM_152245.2 NP_001138607.1|NP_689451.1 Q92523 CPT1B_HUMAN carnitine palmitoyltransferase 1B (muscle) 113 carnitine shuttle|fatty acid beta-oxidation|regulation of fatty acid oxidation integral to membrane|mitochondrial outer membrane carnitine O-palmitoyltransferase activity central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 22 all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) all cancers(3;3.56e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.39e-74)|Epithelial(4;5.58e-70)|GBM - Glioblastoma multiforme(4;5.59e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.207) AGACGCCCGTGGAGAAGATGG 0.607000 OREG0026685 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 49 55 0 0 0.003610 0 0 ST8SIA6 338596 broad.mit.edu 37 10 17495594 17495594 + Missense_Mutation SNP C C T TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr10:17495594C>T ENST00000377602.4 - 2 238 c.164G>A c.(163-165)cGg>cAg p.R55Q NM_001004470.1 NP_001004470.1 P61647 SIA8F_HUMAN ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 6 55 post-translational protein modification|protein N-linked glycosylation via asparagine integral to Golgi membrane alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity endometrium(3)|kidney(3)|large_intestine(4)|liver(1)|lung(24)|ovary(1)|skin(1) 37 CGCCGGGCTCCGGAGCGTCCT 0.716000 4 2 0 0 0.000602 0 0 PLEKHA8P1 51054 broad.mit.edu 37 12 45568343 45568343 + RNA SNP C C A TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr12:45568343C>A ENST00000256692.5 - 0 342 NR_037144.1 breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 GAATGAACTTCAATTTCACAG 0.443000 30 47 1.30897e-18 2.37925e-18 0.001786 1 0 LRP1B 53353 broad.mit.edu 37 2 141108413 141108413 + Missense_Mutation SNP T T C TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr2:141108413T>C ENST00000389484.3 - 77 12816 c.11845A>G c.(11845-11847)Aaa>Gaa p.K3949E NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 3949 protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) TGGATCCTTTTGTAGAAAATT 0.348000 TSP Lung(27;0.18) 9 19 0 0 0.006214 0 0 WDPCP 51057 broad.mit.edu 37 2 63631787 63631787 + Silent SNP C C A TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr2:63631787C>A ENST00000409120.1 - 4 3805 c.255G>T c.(253-255)ctG>ctT p.L85L WDPCP_ENST00000409835.1_5'UTR|WDPCP_ENST00000409562.3_Silent_p.L277L|WDPCP_ENST00000409199.1_Silent_p.L85L|WDPCP_ENST00000272321.7_Silent_p.L277L|WDPCP_ENST00000398544.3_Silent_p.L118L O95876 FRITZ_HUMAN WD repeat containing planar cell polarity effector 277 cilium morphogenesis|regulation of embryonic cell shape|regulation of protein localization|septin cytoskeleton organization cilium axoneme|cytoplasm|cytoskeleton|plasma membrane central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(19)|ovary(1)|skin(1) 35 GGACAGAACTCAGAACCTGTT 0.408000 19 39 3.99206e-14 6.77772e-14 0.007413 1 0 SH3PXD2B 285590 broad.mit.edu 37 5 171765873 171765873 + Missense_Mutation SNP G G A TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr5:171765873G>A ENST00000311601.5 - 13 2406 c.2236C>T c.(2236-2238)Cct>Tct p.P746S SH3PXD2B_ENST00000519643.1_Intron NM_001017995.2 NP_001017995.1 A1X283 SPD2B_HUMAN SH3 and PX domains 2B 746 Pro-rich. adipose tissue development|bone development|cell communication|cell differentiation|eye development|heart development|podosome assembly cell junction|cell projection|cytoplasm|podosome phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-5-phosphate binding|SH2 domain binding NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 36 Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175) Medulloblastoma(196;0.0207)|all_neural(177;0.0625) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) TCTTGGAGAGGAACAGGCACG 0.602000 14 45 0 0 0.001855 0 0 GLI2 2736 broad.mit.edu 37 2 121726325 121726325 + Missense_Mutation SNP C C A TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr2:121726325C>A ENST00000452319.1 + 6 739 c.679C>A c.(679-681)Ctg>Atg p.L227M GLI2_ENST00000361492.4_Missense_Mutation_p.L227M|GLI2_ENST00000435313.2_3'UTR|GLI2_ENST00000314490.11_5'UTR P10070 GLI2_HUMAN GLI family zinc finger 2 227 axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 Renal(3;0.0496) Prostate(154;0.0623) GACGCCCCGCCTGAGCCGCAA 0.642000 22 79 7.33532e-06 9.89788e-06 0.003954 1 0 DUSP7 1849 broad.mit.edu 37 3 52088311 52088311 + Silent SNP C C A TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr3:52088311C>A ENST00000495880.1 - 2 780 c.597G>T c.(595-597)tcG>tcT p.S199S DUSP7_ENST00000296483.6_Silent_p.S148S Q16829 DUS7_HUMAN dual specificity phosphatase 7 199 Ser-rich. inactivation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm MAP kinase tyrosine/serine/threonine phosphatase activity|protein binding|protein tyrosine phosphatase activity breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1) 17 BRCA - Breast invasive adenocarcinoma(193;5.14e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) AGGTGGGTGGCGAGCTGCTCG 0.627000 13 42 1.49906e-05 2.01395e-05 0.002450 1 0 GATA1 2623 broad.mit.edu 37 X 48652212 48652212 + Missense_Mutation SNP C C A TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chrX:48652212C>A ENST00000376670.3 + 6 994 c.883C>A c.(883-885)Ctg>Atg p.L295M GATA1_ENST00000376665.3_Intron NM_002049.3 NP_002040.1 P15976 GATA1_HUMAN GATA binding protein 1 (globin transcription factor 1) 295 basophil differentiation|eosinophil differentiation|erythrocyte development|megakaryocyte differentiation|platelet aggregation|platelet formation|positive regulation of anti-apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|regulation of glycoprotein biosynthetic process|transcription from RNA polymerase II promoter nuclear membrane|nucleolus|nucleoplasm C2H2 zinc finger domain binding|RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(259)|large_intestine(8)|lung(9)|prostate(1) 283 GAACCGGCCACTGACCATGCG 0.567000 """Mis, F""" megakaryoblastic leukemia of Downs Syndrome 7 17 0.00448238 0.00551815 0.004482 1 0 TRPM4 54795 broad.mit.edu 37 19 49675355 49675355 + Silent SNP C C G TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr19:49675355C>G ENST00000252826.5 + 9 1266 c.1140C>G c.(1138-1140)gcC>gcG p.A380A TRPM4_ENST00000355712.5_Intron|TRPM4_ENST00000601347.1_3'UTR|TRPM4_ENST00000427978.2_Silent_p.A380A NM_017636.3 NP_060106.2 Q8TD43 TRPM4_HUMAN transient receptor potential cation channel, subfamily M, member 4 380 dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane ATP binding|calcium activated cation channel activity|calmodulin binding breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 49 all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15) all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751) TTTTGAAGGCCCTTGTGAAGG 0.502000 28 43 0 0 0.007291 0 0 MFSD7 84179 broad.mit.edu 37 4 678304 678304 + Nonsense_Mutation SNP C C A TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr4:678304C>A ENST00000322224.4 - 6 1121 c.808G>T c.(808-810)Gag>Tag p.E270* MFSD7_ENST00000503156.1_Nonsense_Mutation_p.E206*|MFSD7_ENST00000347950.5_Nonsense_Mutation_p.E152*|MFSD7_ENST00000404286.2_Nonsense_Mutation_p.E271*|MFSD7_ENST00000515118.1_Nonsense_Mutation_p.E174* Q6UXD7 MFSD7_HUMAN major facilitator superfamily domain containing 7 271 transmembrane transport integral to membrane cervix(1)|kidney(2)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 11 AGGATCTGCTCCAGGAGGGCT 0.622000 OREG0016025 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 53 63 9.90819e-18 1.79043e-17 0.003610 1 0 BCORL1 63035 broad.mit.edu 37 X 129155073 129155073 + Silent SNP G G A rs61754128 TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chrX:129155073G>A ENST00000540052.1 + 4 3599 c.3555G>A c.(3553-3555)ccG>ccA p.P1185P BCORL1_ENST00000359304.2_Silent_p.P1185P|BCORL1_ENST00000303743.5_Silent_p.P1185P|BCORL1_ENST00000218147.7_Silent_p.P1185P NM_021946.4 NP_068765.3 Q5H9F3 BCORL_HUMAN BCL6 corepressor-like 1 1185 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 75 ACCGGAAGCCGACAAAGCCGG 0.627000 16 36 0 0 0.004990 0 0 NCSTN 23385 broad.mit.edu 37 1 160324028 160324028 + Missense_Mutation SNP C C G TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr1:160324028C>G ENST00000368063.1 + 12 1520 c.1240C>G c.(1240-1242)Cga>Gga p.R414G NCSTN_ENST00000535857.1_Missense_Mutation_p.R296G|NCSTN_ENST00000459963.1_3'UTR|NCSTN_ENST00000368065.4_Missense_Mutation_p.R176G|NCSTN_ENST00000294785.5_Missense_Mutation_p.R434G|NCSTN_ENST00000392212.4_Missense_Mutation_p.R414G Q92542 NICA_HUMAN nicastrin 434 amyloid precursor protein catabolic process|apoptosis|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity|protein processing endoplasmic reticulum|Golgi apparatus|integral to plasma membrane|melanosome protein binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(2) 34 all_cancers(52;8.15e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) TCTTCGAGCTCGAAACATCTC 0.522000 17 85 0 0 0.004990 0 0 STAB2 55576 broad.mit.edu 37 12 104054150 104054150 + Silent SNP C C A TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr12:104054150C>A ENST00000388887.2 + 16 1980 c.1776C>A c.(1774-1776)gtC>gtA p.V592V NM_017564.9 NP_060034.9 Q8WWQ8 STAB2_HUMAN stabilin 2 592 FAS1 2. angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis cytoplasm|external side of plasma membrane|integral to plasma membrane Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2) 174 ACCACATTGTCCCATTTACCC 0.423000 76 171 4.78148e-37 9.98296e-37 0.003610 1 0 ARHGAP10 79658 broad.mit.edu 37 4 148984305 148984305 + Silent SNP C C A rs144731909 byFrequency TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr4:148984305C>A ENST00000336498.3 + 21 2273 c.2034C>A c.(2032-2034)ggC>ggA p.G678G ARHGAP10_ENST00000414545.2_Intron NM_024605.3 NP_078881.3 A1A4S6 RHG10_HUMAN Rho GTPase activating protein 10 678 apoptosis|filopodium assembly|regulation of apoptosis|small GTPase mediated signal transduction cytosol|perinuclear region of cytoplasm|plasma membrane cytoskeletal adaptor activity|SH3 domain binding autonomic_ganglia(2)|endometrium(5)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2) 33 all_hematologic(180;0.151) Renal(17;0.0166) GBM - Glioblastoma multiforme(119;0.0423) TTAGCCCAGGCCAGACCCGAT 0.517000 13 67 7.93312e-07 1.08948e-06 0.002450 1 0 CNTN3 5067 broad.mit.edu 37 3 74474018 74474018 + Silent SNP G G A TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr3:74474018G>A ENST00000263665.6 - 4 459 c.432C>T c.(430-432)tgC>tgT p.C144C NM_020872.1 NP_065923.1 Q9P232 CNTN3_HUMAN contactin 3 (plasmacytoma associated) 144 Ig-like C2-type 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) GTGGGGGGCCGCAGAGCAGCA 0.443000 8 22 0 0 0.004482 0 0 NDRG4 65009 broad.mit.edu 37 16 58537784 58537784 + Missense_Mutation SNP C C A TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr16:58537784C>A ENST00000394282.4 + 4 667 c.260C>A c.(259-261)aCc>aAc p.T87N NDRG4_ENST00000568640.1_Missense_Mutation_p.T53N|NDRG4_ENST00000394279.2_Missense_Mutation_p.T67N|NDRG4_ENST00000356752.4_Missense_Mutation_p.T65N|NDRG4_ENST00000570248.1_Missense_Mutation_p.T35N|NDRG4_ENST00000258187.5_Missense_Mutation_p.T67N|NDRG4_ENST00000569923.1_5'UTR|NDRG4_ENST00000563799.1_Missense_Mutation_p.T35N|NDRG4_ENST00000566192.1_Missense_Mutation_p.T35N|NDRG4_ENST00000563022.1_3'UTR|NDRG4_ENST00000562999.1_Missense_Mutation_p.T35N NM_001130487.1 NP_001123959.1 Q9ULP0 NDRG4_HUMAN NDRG family member 4 35 cell differentiation|cell growth|multicellular organismal development|response to stress cytoplasm breast(1)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|urinary_tract(1) 11 GCCATCCTCACCTACCATGAT 0.637000 18 28 0.000132079 0.00017367 0.008871 1 0 CNTNAP2 26047 broad.mit.edu 37 7 146997300 146997300 + Silent SNP C C T TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr7:146997300C>T ENST00000361727.3 + 9 1932 c.1416C>T c.(1414-1416)ctC>ctT p.L472L NM_014141.5 NP_054860.1 Q9UHC6 CNTP2_HUMAN contactin associated protein-like 2 472 Laminin G-like 2. behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex receptor binding NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3) 188 Melanoma(164;0.153) all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794) OV - Ovarian serous cystadenocarcinoma(82;0.0319) TTGCTATTCTCACCATCGATG 0.413000 HNSCC(39;0.1) 10 48 0 0 0.008291 0 0 MMAA 166785 broad.mit.edu 37 4 146560343 146560343 + Missense_Mutation SNP A A G TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr4:146560343A>G ENST00000281317.5 + 2 1262 c.52A>G c.(52-54)Aga>Gga p.R18G MMAA_ENST00000541599.1_5'UTR NM_172250.2 NP_758454.1 Q8IVH4 MMAA_HUMAN methylmalonic aciduria (cobalamin deficiency) cblA type 18 mitochondrion GTP binding|nucleoside-triphosphatase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1) 17 all_hematologic(180;0.151) Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) AGGCCTTTTAAGAGCACCTTT 0.438000 22 70 0 0 0.001882 0 0 CACNA2D1 781 broad.mit.edu 37 7 81593561 81593561 + Missense_Mutation SNP C C A TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr7:81593561C>A ENST00000356860.3 - 33 3027 c.2689G>T c.(2689-2691)Gca>Tca p.A897S CACNA2D1_ENST00000535308.1_Missense_Mutation_p.A109S|CACNA2D1_ENST00000356253.5_Missense_Mutation_p.A909S NM_000722.2 NP_000713.2 P54289 CA2D1_HUMAN calcium channel, voltage-dependent, alpha 2/delta subunit 1 909 voltage-gated calcium channel complex metal ion binding breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 81 Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115) TGTTTTGGTGCAGCACCGGGC 0.423000 33 39 1.58521e-26 3.26552e-26 0.005524 1 0 TEX14 56155 broad.mit.edu 37 17 56700349 56700349 + Silent SNP A A T TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr17:56700349A>T ENST00000389934.3 - 4 393 c.276T>A c.(274-276)ccT>ccA p.P92P TEX14_ENST00000349033.5_Silent_p.P92P|TEX14_ENST00000240361.8_Silent_p.P92P NM_001201457.1|NM_198393.3 NP_001188386.1|NP_938207.2 Q8IWB6 TEX14_HUMAN testis expressed 14 92 cytoplasm ATP binding|protein kinase activity breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3) 81 Medulloblastoma(34;0.127)|all_neural(34;0.237) CTGCATGGACAGGGGTGCTCC 0.567000 13 38 0 0 0.001368 0 0 PRAMEF6 440561 broad.mit.edu 37 1 13001288 13001288 + Missense_Mutation SNP T T G TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr1:13001288T>G ENST00000376189.1 - 3 494 c.395A>C c.(394-396)aAa>aCa p.K132T PRAMEF6_ENST00000415464.2_Missense_Mutation_p.K132T|PRAMEF6_ENST00000376192.5_Intron NM_001010889.2 NP_001010889.1 Q5VXH4 PRAM6_HUMAN PRAME family member 6 132 NS(1)|kidney(1)|lung(5)|urinary_tract(2) 9 Ovarian(185;0.249) Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255) 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) CACTGGTGTTTTGTTCCTCTT 0.493000 44 796 0 0 0.002222 0 0 OR4C13 283092 broad.mit.edu 37 11 49974135 49974135 + Missense_Mutation SNP G G T TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr11:49974135G>T ENST00000555099.1 + 1 193 c.161G>T c.(160-162)aGa>aTa p.R54I NM_001001955.2 NP_001001955.2 Q8NGP0 OR4CD_HUMAN olfactory receptor, family 4, subfamily C, member 13 54 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1) 43 CCATCACTGAGATCCCCCATG 0.428000 52 104 3.76997e-23 7.41987e-23 0.003610 1 0 USO1 8615 broad.mit.edu 37 4 76725312 76725312 + Missense_Mutation SNP A A T TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr4:76725312A>T ENST00000538159.1 + 19 2039 c.2039A>T c.(2038-2040)cAg>cTg p.Q680L USO1_ENST00000514213.2_Missense_Mutation_p.Q656L O60763 USO1_HUMAN USO1 vesicle transport factor 671 intracellular protein transport|vesicle fusion with Golgi apparatus cytosol|Golgi membrane protein binding|protein transporter activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934) GAATTAAGGCAGCAGGTTTCT 0.368000 10 8 0 0 0.006214 0 0 TEX14 56155 broad.mit.edu 37 17 56676480 56676480 + Silent SNP G G A rs114600472 by1000genomes TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr17:56676480G>A ENST00000389934.3 - 14 2343 c.2226C>T c.(2224-2226)caC>caT p.H742H TEX14_ENST00000349033.5_Silent_p.H742H|TEX14_ENST00000240361.8_Silent_p.H748H NM_001201457.1|NM_198393.3 NP_001188386.1|NP_938207.2 Q8IWB6 TEX14_HUMAN testis expressed 14 748 cytoplasm ATP binding|protein kinase activity breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3) 81 Medulloblastoma(34;0.127)|all_neural(34;0.237) CATCATTCTCGTGCATTATTG 0.428000 53 134 0 0 0.003610 0 0 FYN 2534 broad.mit.edu 37 6 111983047 111983047 + Missense_Mutation SNP C C A TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr6:111983047C>A ENST00000354650.3 - 14 2115 c.1509G>T c.(1507-1509)tgG>tgT p.W503C FYN_ENST00000229470.5_Missense_Mutation_p.W451C|FYN_ENST00000368678.4_Missense_Mutation_p.W500C|FYN_ENST00000368682.3_Missense_Mutation_p.W500C|FYN_ENST00000538466.1_Missense_Mutation_p.W500C|FYN_ENST00000368667.2_Missense_Mutation_p.W503C|FYN_ENST00000356013.2_Missense_Mutation_p.W448C|FYN_ENST00000229471.4_Missense_Mutation_p.W448C NM_002037.5 NP_002028.1 P06241 FYN_HUMAN FYN oncogene related to SRC, FGR, YES 503 Protein kinase. axon guidance|calcium ion transport|feeding behavior|interspecies interaction between organisms|intracellular protein kinase cascade|learning|leukocyte migration|platelet activation|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|viral reproduction cytosol|endosome|plasma membrane ATP binding|glycoprotein binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(17)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 30 all_cancers(87;1.37e-05)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00125)|Colorectal(196;0.0211) all cancers(137;0.0451)|OV - Ovarian serous cystadenocarcinoma(136;0.0476)|Epithelial(106;0.102) Dasatinib(DB01254) GGTCCTTTTTCCAGCAGTGGA 0.567000 59 89 1.80625e-27 3.74585e-27 0.003610 1 0 EGFL6 25975 broad.mit.edu 37 X 13607713 13607713 + Missense_Mutation SNP C C A TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chrX:13607713C>A ENST00000361306.1 + 2 370 c.113C>A c.(112-114)cCt>cAt p.P38H EGFL6_ENST00000380602.3_Missense_Mutation_p.P38H NM_001167890.1|NM_015507.3 NP_001161362.1|NP_056322.2 Q8IUX8 EGFL6_HUMAN EGF-like-domain, multiple 6 38 cell adhesion|cell cycle|cell differentiation|multicellular organismal development basement membrane|extracellular space|membrane calcium ion binding|integrin binding breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)|skin(3) 23 GCACGTCAGCCTGGGGTCTGT 0.458000 20 46 5.26018e-13 8.73868e-13 0.001882 1 0 OVCH2 341277 broad.mit.edu 37 11 7723352 7723352 + RNA SNP A A T TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr11:7723352A>T ENST00000454689.1 - 0 469 OVCH2_ENST00000534193.1_RNA NM_198185.3 NP_937828.3 ovochymase 2 (gene/pseudogene) cervix(1)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(2) 15 Epithelial(150;7.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.197) GGGCCCCACAAAGTGGCCTGA 0.502000 6 7 0 0 0.001984 0 0 KIAA0556 23247 broad.mit.edu 37 16 27789020 27789020 + Silent SNP C C T TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr16:27789020C>T ENST00000261588.4 + 26 4660 c.4641C>T c.(4639-4641)acC>acT p.T1547T NM_015202.2 NP_056017.2 O60303 K0556_HUMAN KIAA0556 1547 breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 76 GTGAGCCCACCGTGCCCTACC 0.642000 8 72 0 0 0.006214 0 0 ITIH6 347365 broad.mit.edu 37 X 54818409 54818409 + Silent SNP G G T TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chrX:54818409G>T ENST00000218436.6 - 3 347 c.318C>A c.(316-318)atC>atA p.I106I NM_198510.2 NP_940912.1 Q6UXX5 ITH5L_HUMAN inter-alpha-trypsin inhibitor heavy chain family, member 6 106 VIT. hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity CTTCTTCATAGATTTTCTTTG 0.458000 24 56 3.73148e-12 6.00535e-12 0.007291 1 0 EMX2 2018 broad.mit.edu 37 10 119303110 119303110 + Missense_Mutation SNP C C T TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr10:119303110C>T ENST00000553456.3 + 1 1156 c.332C>T c.(331-333)tCg>tTg p.S111L EMX2_ENST00000442245.4_Missense_Mutation_p.S111L|EMX2OS_ENST00000551288.1_RNA NM_004098.3 NP_004089.1 Q04743 EMX2_HUMAN empty spiracles homeobox 2 111 nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|prostate(2) 12 Colorectal(252;0.109)|Lung NSC(174;0.179)|all_lung(145;0.22) all cancers(201;0.0133) CTATTCGCCTCGCAGCAGCGG 0.697000 21 70 0 0 0.001882 0 0 MAGI2 9863 broad.mit.edu 37 7 77824308 77824308 + Missense_Mutation SNP G G A TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr7:77824308G>A ENST00000354212.4 - 12 2405 c.2152C>T c.(2152-2154)Ccc>Tcc p.P718S MAGI2_ENST00000522391.1_Missense_Mutation_p.P718S|MAGI2_ENST00000419488.1_Missense_Mutation_p.P718S NM_012301.3 NP_036433.2 Q86UL8 MAGI2_HUMAN membrane associated guanylate kinase, WW and PDZ domain containing 2 718 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) GGTGGGAAGGGCAGGTTCTGC 0.517000 24 44 0 0 0.002780 0 0 MUC16 94025 broad.mit.edu 37 19 9065219 9065219 + Silent SNP G G C TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr19:9065219G>C ENST00000397910.4 - 3 22430 c.22227C>G c.(22225-22227)tcC>tcG p.S7409S NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 7411 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 CTGGTAATGTGGAAGAAACAG 0.522000 3 31 0 0 0.000248 0 0 EFCAB13 124989 broad.mit.edu 37 17 45473278 45473278 + Missense_Mutation SNP C C G TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr17:45473278C>G ENST00000331493.2 + 17 2291 c.1880C>G c.(1879-1881)tCt>tGt p.S627C EFCAB13_ENST00000517484.1_Missense_Mutation_p.S531C NM_152347.4 NP_689560.3 EF-hand calcium binding domain 13 AATACTCTGTCTAGTTTGAAT 0.353000 4 58 0 0 0.000248 0 0 TAAR8 83551 broad.mit.edu 37 6 132874309 132874309 + Missense_Mutation SNP C C T TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr6:132874309C>T ENST00000275200.1 + 1 478 c.478C>T c.(478-480)Ctc>Ttc p.L160F NM_053278.1 NP_444508.1 Q969N4 TAAR8_HUMAN trace amine associated receptor 8 160 plasma membrane G-protein coupled receptor activity endometrium(3)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 22 Breast(56;0.112) OV - Ovarian serous cystadenocarcinoma(155;0.00412)|GBM - Glioblastoma multiforme(226;0.00792) GATTCTGCCTCTCACGTACAG 0.493000 108 119 0 0 0.003610 0 0 TBX5 6910 broad.mit.edu 37 12 114793477 114793477 + Missense_Mutation SNP G G T TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr12:114793477G>T ENST00000310346.4 - 9 2083 c.1417C>A c.(1417-1419)Cag>Aag p.Q473K TBX5_ENST00000349716.5_Missense_Mutation_p.Q423K|TBX5_ENST00000405440.2_Missense_Mutation_p.Q473K NM_000192.3 NP_000183.2 Q99593 TBX5_HUMAN T-box 5 473 cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development cytoplasm|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 Medulloblastoma(191;0.163)|all_neural(191;0.178) BRCA - Breast invasive adenocarcinoma(302;0.0893) AGGCCAGTCTGAGGCCCACAC 0.627000 12 41 1.61879e-10 2.53912e-10 0.001368 1 0 ZFYVE9 9372 broad.mit.edu 37 1 52800415 52800415 + Silent SNP C C T TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr1:52800415C>T ENST00000287727.3 + 15 3817 c.3645C>T c.(3643-3645)taC>taT p.Y1215Y ZFYVE9_ENST00000357206.2_Silent_p.Y1156Y|ZFYVE9_ENST00000371591.1_Silent_p.Y1215Y|ZFYVE9_ENST00000469134.1_3'UTR NM_004799.2 NP_004790.2 O95405 ZFYV9_HUMAN zinc finger, FYVE domain containing 9 1215 endocytosis|SMAD protein complex assembly|SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway early endosome membrane metal ion binding|protein binding|receptor activity|serine-type peptidase activity breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6) 53 CTTCTGGATACCTTGCCAAGT 0.403000 28 55 0 0 0.006320 0 0 CDKN2C 1031 broad.mit.edu 37 1 51436088 51436088 + Silent SNP G G A TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr1:51436088G>A ENST00000262662.1 + 3 2082 c.48G>A c.(46-48)ggG>ggA p.G16G CDKN2C_ENST00000371761.3_Silent_p.G16G|CDKN2C_ENST00000396148.1_Silent_p.G16G P42773 CDN2C_HUMAN cyclin-dependent kinase inhibitor 2C (p18, inhibits CDK4) 16 cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|regulation of cyclin-dependent protein kinase activity cytosol|nucleus cyclin-dependent protein kinase inhibitor activity|protein kinase binding p.0?(11) central_nervous_system(8)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|thyroid(1) 23 GBM - Glioblastoma multiforme(3;3.61e-13)|all cancers(3;0.00151) CTGCCAGGGGGGACCTAGAGC 0.473000 D """glioma, MM""" 7 48 0 0 0.004482 0 0 LCA5 167691 broad.mit.edu 37 6 80223222 80223222 + Missense_Mutation SNP G G C TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr6:80223222G>C ENST00000392959.1 - 4 1038 c.427C>G c.(427-429)Cag>Gag p.Q143E LCA5_ENST00000467898.2_Missense_Mutation_p.Q143E|LCA5_ENST00000369846.4_Missense_Mutation_p.Q143E NM_181714.3 NP_859065.2 Q86VQ0 LCA5_HUMAN Leber congenital amaurosis 5 143 protein transport cilium axoneme|microtubule basal body protein binding haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(15)|prostate(2)|skin(1) 32 all_cancers(76;3.32e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.0176) BRCA - Breast invasive adenocarcinoma(397;0.0657) GCTTTCTCCTGTCTGTACTGA 0.363000 5 57 0 0 0.000602 0 0 POTEF 728378 broad.mit.edu 37 2 130877604 130877604 + Missense_Mutation SNP C C A TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr2:130877604C>A ENST00000357462.5 - 1 578 c.485G>T c.(484-486)aGg>aTg p.R162M POTEF_ENST00000409914.2_Missense_Mutation_p.R162M|POTEF_ENST00000360967.5_Missense_Mutation_p.R162M|POTEF_ENST00000361163.4_Missense_Mutation_p.R162M A5A3E0 POTEF_HUMAN POTE ankyrin domain family, member F 162 cell cortex ATP binding breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 53 GTCAGTGTCCCTGAGCATGAC 0.587000 30 21 6.84511e-11 1.09028e-10 0.003271 1 0 PRDM2 7799 broad.mit.edu 37 1 14106289 14106289 + Missense_Mutation SNP C C G TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr1:14106289C>G ENST00000235372.7 + 8 2855 c.1999C>G c.(1999-2001)Ctt>Gtt p.L667V PRDM2_ENST00000343137.4_Missense_Mutation_p.L466V|PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000413440.1_Missense_Mutation_p.L466V|PRDM2_ENST00000311066.5_Missense_Mutation_p.L667V|PRDM2_ENST00000376048.5_Intron NM_012231.4 NP_036363.2 Q13029 PRDM2_HUMAN PR domain containing 2, with ZNF domain 667 Golgi apparatus|nucleus DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2) 55 Ovarian(185;0.249) all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255) GBM - Glioblastoma multiforme(2;0.00182) UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145) CTCTTTAAGTCTTCCTCTTAG 0.453000 29 28 0 0 0.007291 0 0 TTC3 7267 broad.mit.edu 37 21 38538740 38538740 + Missense_Mutation SNP G G T TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr21:38538740G>T ENST00000399017.2 + 33 6971 c.4224G>T c.(4222-4224)gaG>gaT p.E1408D TTC3_ENST00000355666.1_Missense_Mutation_p.E1408D|TTC3_ENST00000479930.1_3'UTR|TTC3_ENST00000354749.2_Missense_Mutation_p.E1408D NM_003316.3 NP_003307.3 P53804 TTC3_HUMAN tetratricopeptide repeat domain 3 1408 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) AGATCCTTGAGGGCTCTTTGG 0.438000 37 39 1.22674e-20 2.35443e-20 0.008740 1 0 OR52N1 79473 broad.mit.edu 37 11 5809749 5809749 + Missense_Mutation SNP G G T TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr11:5809749G>T ENST00000317078.1 - 1 297 c.298C>A c.(298-300)Ctc>Atc p.L100I TRIM5_ENST00000380027.1_Intron NM_001001913.1 NP_001001913.1 Q8NH53 O52N1_HUMAN olfactory receptor, family 52, subfamily N, member 1 100 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(15)|prostate(2)|skin(3) 31 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195) ATCTGGGCGAGGCAGGCTTTA 0.517000 19 43 3.99206e-14 6.77772e-14 0.007413 1 0 DSP 1832 broad.mit.edu 37 6 7569537 7569537 + Missense_Mutation SNP C C A TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr6:7569537C>A ENST00000379802.3 + 12 1879 c.1538C>A c.(1537-1539)cCt>cAt p.P513H DSP_ENST00000418664.2_Missense_Mutation_p.P513H NM_004415.2 NP_004406.2 P15924 DESP_HUMAN desmoplakin 513 Globular 1.|Interacts with plakophilin 1 and junction plakoglobin. cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural constituent of cytoskeleton biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5) 101 Ovarian(93;0.0584) all_hematologic(90;0.236) OV - Ovarian serous cystadenocarcinoma(45;0.000508) CTGATCATCCCTCCTCCGAAC 0.577000 34 32 1.36161e-19 2.54993e-19 0.004289 1 0 FAM83B 222584 broad.mit.edu 37 6 54805349 54805349 + Missense_Mutation SNP A A G TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr6:54805349A>G ENST00000306858.7 + 5 1696 c.1580A>G c.(1579-1581)gAg>gGg p.E527G NM_001010872.1 NP_001010872.1 Q5T0W9 FA83B_HUMAN family with sequence similarity 83, member B 527 autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1) 71 Lung NSC(77;0.0178)|Renal(3;0.122) GATAATCCTGAGAATTTGAAG 0.398000 12 36 0 0 0.000978 0 0 ASXL1 171023 broad.mit.edu 37 20 31022609 31022609 + Silent SNP G G T TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr20:31022609G>T ENST00000375687.4 + 13 2518 c.2094G>T c.(2092-2094)ccG>ccT p.P698P ASXL1_ENST00000306058.5_Silent_p.P693P NM_015338.5 NP_056153.2 Q8IXJ9 ASXL1_HUMAN additional sex combs like 1 (Drosophila) 698 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent PR-DUB complex metal ion binding|protein binding NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 722 AACTACTGCCGCCTTATCCTC 0.587000 """F, N, Mis""" """MDS, CMML""" 6 17 0.00448238 0.00551815 0.004482 1 0 ERMAP 114625 broad.mit.edu 37 1 43308742 43308742 + Missense_Mutation SNP G G T TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr1:43308742G>T ENST00000328249.3 + 9 2035 c.997G>T c.(997-999)Gtc>Ttc p.V333F RP11-342M1.2_ENST00000416809.2_RNA|RP11-342M1.4_ENST00000414798.1_RNA|ERMAP_ENST00000372514.3_Missense_Mutation_p.V423F|ERMAP_ENST00000372517.2_Missense_Mutation_p.V423F|RP11-342M1.3_ENST00000444563.1_RNA|RP11-342M1.3_ENST00000425076.1_RNA|ERMAP_ENST00000487556.1_3'UTR Q96PL5 ERMAP_HUMAN erythroblast membrane-associated protein (Scianna blood group) 423 B30.2/SPRY. Missing (in Sc-3 allele). integral to membrane|plasma membrane breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1) 11 Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0333) GGAATCAATTGTCCCCAGGCC 0.478000 43 68 3.54561e-26 7.25558e-26 0.002222 1 0 MAGEB16 139604 broad.mit.edu 37 X 35821063 35821063 + Missense_Mutation SNP C C G TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chrX:35821063C>G ENST00000399989.1 + 2 1029 c.750C>G c.(748-750)atC>atG p.I250M MAGEB16_ENST00000399988.1_Missense_Mutation_p.I250M|MAGEB16_ENST00000399992.1_Missense_Mutation_p.I282M|MAGEB16_ENST00000399985.1_Missense_Mutation_p.I250M|MAGEB16_ENST00000399987.1_Missense_Mutation_p.I250M NM_001099921.1 NP_001093391.1 A2A368 MAGBG_HUMAN melanoma antigen family B, 16 250 MAGE. breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 31 GAATGCTCATCACCAAAGATT 0.502000 21 30 0 0 0.008871 0 0 CD84 8832 broad.mit.edu 37 1 160523270 160523270 + Missense_Mutation SNP G G T TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr1:160523270G>T ENST00000368054.3 - 4 693 c.658C>A c.(658-660)Cgt>Agt p.R220S CD84_ENST00000311224.4_Missense_Mutation_p.R220S|CD84_ENST00000368051.3_Missense_Mutation_p.R220S|CD84_ENST00000368048.3_Missense_Mutation_p.R220S|RP11-528G1.2_ENST00000446952.1_RNA|CD84_ENST00000534968.1_Missense_Mutation_p.R106S NM_003874.3 NP_003865.1 Q9UIB8 SLAF5_HUMAN CD84 molecule 220 blood coagulation|defense response|homophilic cell adhesion|leukocyte migration integral to plasma membrane receptor activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(1) 24 all_cancers(52;3.62e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.0175) TGGTGAGTACGGAAGCCCATT 0.493000 17 51 3.41278e-10 5.27275e-10 0.004990 1 0 ADCY9 115 broad.mit.edu 37 16 4164490 4164490 + Missense_Mutation SNP C C A TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr16:4164490C>A ENST00000294016.3 - 2 1492 c.954G>T c.(952-954)atG>atT p.M318I NM_001116.3 NP_001107.2 O60503 ADCY9_HUMAN adenylate cyclase 9 318 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to plasma membrane adenylate cyclase activity|ATP binding|metal ion binding breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 CCTTCCCGTGCATAATGGATT 0.547000 37 40 5.43694e-19 1.006e-18 0.005524 1 0 OR4X1 390113 broad.mit.edu 37 11 48286115 48286115 + Missense_Mutation SNP C C A TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr11:48286115C>A ENST00000320048.1 + 1 703 c.703C>A c.(703-705)Ctc>Atc p.L235I NM_001004726.1 NP_001004726.1 Q8NH49 OR4X1_HUMAN olfactory receptor, family 4, subfamily X, member 1 (gene/pseudogene) 235 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(1) 28 GCACAAGGCCCTCTCCACCTG 0.537000 23 49 1.9806e-07 2.76925e-07 0.002299 1 0 IGKV1D-16 28901 broad.mit.edu 37 2 90139140 90139140 + RNA SNP C C A TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr2:90139140C>A ENST00000492446.1 + 0 63 TCCTGGGGCTCCTGCTGCTCT 0.512000 46 157 8.13277e-46 1.70954e-45 0.003610 1 0 FAM27L 284123 broad.mit.edu 37 17 21826173 21826173 + RNA SNP C C A TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr17:21826173C>A ENST00000426869.3 + 0 356 NR_028336.1 family with sequence similarity 27-like central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1) 14 UCEC - Uterine corpus endometrioid carcinoma (53;0.11)|BRCA - Breast invasive adenocarcinoma(1;0.00463) AGCAGGCCCACGTCCAAGAAG 0.522000 26 56 7.38237e-10 1.12928e-09 0.006320 1 0 GGCX 2677 broad.mit.edu 37 2 85777724 85777724 + Nonsense_Mutation SNP G G A TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr2:85777724G>A ENST00000233838.3 - 14 2118 c.2038C>T c.(2038-2040)Cga>Tga p.R680* GGCX_ENST00000430215.3_Nonsense_Mutation_p.R623* NM_000821.5 NP_000812.2 P38435 VKGC_HUMAN gamma-glutamyl carboxylase 680 blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification endoplasmic reticulum membrane|integral to membrane|membrane fraction gamma-glutamyl carboxylase activity endometrium(3)|large_intestine(5)|lung(3)|ovary(1)|stomach(1)|urinary_tract(2) 15 Anisindione(DB01125)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Drotrecogin alfa(DB00055)|L-Glutamic Acid(DB00142)|Menadione(DB00170)|Phytonadione(DB01022) CGGAAGAATCGCTCATGGAAA 0.483000 47 62 0 0 0.003214 0 0 WT1 7490 broad.mit.edu 37 11 32413517 32413517 + Splice_Site SNP C C T TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr11:32413517C>T ENST00000332351.3 - 9 1717 c.e9+1 WT1_ENST00000530998.1_Splice_Site|WT1_ENST00000448076.3_Intron|WT1_ENST00000379079.2_Intron NM_024424.3|NM_024426.4 NP_077742.2|NP_077744.3 P19544 WT1_HUMAN Wilms tumor 1 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 epithelium development|metanephric S-shaped body morphogenesis|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|RNA splicing|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 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) AGTTTACGCACTTGTTTTACC 0.378000 """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 30 88 0 0 0.003755 0 0 LRRTM3 347731 broad.mit.edu 37 10 68857466 68857466 + Missense_Mutation SNP C C A TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr10:68857466C>A ENST00000361320.4 + 3 2236 c.1658C>A c.(1657-1659)aCg>aAg p.T553K CTNNA3_ENST00000373744.4_Intron|LRRTM3_ENST00000485868.1_3'UTR|CTNNA3_ENST00000494580.1_Intron|CTNNA3_ENST00000433211.1_Intron NM_178011.3 NP_821079.3 Q86VH5 LRRT3_HUMAN leucine rich repeat transmembrane neuronal 3 553 integral to membrane breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3) 41 CAGGAAGATACGATGGAAACA 0.468000 12 60 2.27111e-07 3.14696e-07 0.001368 1 0 SLC8A3 6547 broad.mit.edu 37 14 70633417 70633417 + Missense_Mutation SNP C C A TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr14:70633417C>A ENST00000381269.2 - 2 2476 c.1723G>T c.(1723-1725)Ggt>Tgt p.G575C SLC8A3_ENST00000357887.3_Missense_Mutation_p.G575C|SLC8A3_ENST00000528359.1_Missense_Mutation_p.G575C|SLC8A3_ENST00000534137.1_Missense_Mutation_p.G575C|SLC8A3_ENST00000356921.2_Missense_Mutation_p.G575C NM_058240.2|NM_183002.1 NP_489479.1|NP_892114.1 P57103 NAC3_HUMAN solute carrier family 8 (sodium/calcium exchanger), member 3 575 Calx-beta 2. cell communication|platelet activation integral to membrane|plasma membrane calcium:sodium antiporter activity|calmodulin binding NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6) 54 BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555) TCACCGCCACCCTTGGCTGTC 0.512000 28 48 4.59853e-10 7.06938e-10 0.005443 1 0 EGFL6 25975 broad.mit.edu 37 X 13624535 13624535 + Silent SNP C C A TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chrX:13624535C>A ENST00000361306.1 + 6 815 c.558C>A c.(556-558)ccC>ccA p.P186P EGFL6_ENST00000380602.3_Silent_p.P186P NM_001167890.1|NM_015507.3 NP_001161362.1|NP_056322.2 Q8IUX8 EGFL6_HUMAN EGF-like-domain, multiple 6 186 EGF-like 4; calcium-binding (Potential). cell adhesion|cell cycle|cell differentiation|multicellular organismal development basement membrane|extracellular space|membrane calcium ion binding|integrin binding breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)|skin(3) 23 TCATCTGTCCCTACAATCGAA 0.408000 32 67 3.76114e-14 6.45662e-14 0.004289 1 0 LPHN2 23266 broad.mit.edu 37 1 82409007 82409007 + Missense_Mutation SNP A A T TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr1:82409007A>T ENST00000370728.1 + 8 1397 c.752A>T c.(751-753)cAt>cTt p.H251L LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370717.2_Missense_Mutation_p.H251L|LPHN2_ENST00000370721.1_Missense_Mutation_p.H255L|LPHN2_ENST00000370713.1_Missense_Mutation_p.H251L|LPHN2_ENST00000370723.1_Missense_Mutation_p.H251L|LPHN2_ENST00000370730.1_Missense_Mutation_p.H251L|LPHN2_ENST00000370715.1_Missense_Mutation_p.H251L|LPHN2_ENST00000370725.1_Missense_Mutation_p.H251L|LPHN2_ENST00000370727.1_Missense_Mutation_p.H251L|LPHN2_ENST00000359929.3_Missense_Mutation_p.H251L|LPHN2_ENST00000271029.4_Missense_Mutation_p.H251L|LPHN2_ENST00000335786.5_Missense_Mutation_p.H251L|LPHN2_ENST00000394879.1_Missense_Mutation_p.H251L|LPHN2_ENST00000319517.6_Missense_Mutation_p.H251L O95490 LPHN2_HUMAN latrophilin 2 251 Olfactomedin-like. neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 119 all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248) GCCAACTACCATGATACCTCA 0.403000 12 46 0 0 0.000978 0 0 ACSBG2 81616 broad.mit.edu 37 19 6187335 6187335 + Missense_Mutation SNP C C A TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr19:6187335C>A ENST00000588304.1 + 12 1878 c.1432C>A c.(1432-1434)Cct>Act p.P478T ACSBG2_ENST00000252669.5_Missense_Mutation_p.P528T|ACSBG2_ENST00000586696.1_Missense_Mutation_p.P528T|ACSBG2_ENST00000591741.1_3'UTR|ACSBG2_ENST00000591403.1_Missense_Mutation_p.P528T|ACSBG2_ENST00000588485.1_Missense_Mutation_p.P341T Q5FVE4 ACBG2_HUMAN acyl-CoA synthetase bubblegum family member 2 528 cell differentiation|fatty acid metabolic process|multicellular organismal development|spermatogenesis membrane|microsome|mitochondrion acyl-CoA thioesterase activity|ATP binding|long-chain fatty acid-CoA ligase activity breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(3)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 GCCCCCCATTCCTGTTGAGAC 0.478000 56 25 5.86059e-21 1.13183e-20 0.003610 1 0 CCDC62 84660 broad.mit.edu 37 12 123270367 123270367 + Splice_Site SNP G G T TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr12:123270367G>T ENST00000253079.6 + 4 842 c.498_splice c.e4+1 p.K166_splice CCDC62_ENST00000537566.1_Intron|CCDC62_ENST00000392441.4_Splice_Site_p.K166_splice|CCDC62_ENST00000392440.2_Intron NM_201435.4 NP_958843.2 Q6P9F0 CCD62_HUMAN coiled-coil domain containing 62 166 cytoplasm|nucleus breast(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1) 20 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;6.51e-06)|Epithelial(86;2.65e-05)|BRCA - Breast invasive adenocarcinoma(302;0.206) TAAAGCTAAAGGTAATCAAAA 0.408000 25 47 7.87624e-14 1.32992e-13 0.002780 1 0 CCKBR 887 broad.mit.edu 37 11 6291107 6291107 + Silent SNP C C T TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr11:6291107C>T ENST00000525462.1 + 2 363 c.360C>T c.(358-360)ttC>ttT p.F120F CCKBR_ENST00000334619.2_Silent_p.F120F|CCKBR_ENST00000532715.1_Intron|CCKBR_ENST00000525014.1_Silent_p.F120F P32239 GASR_HUMAN cholecystokinin B receptor 115 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cell proliferation|digestion|elevation of cytosolic calcium ion concentration|feeding behavior|positive regulation of cell proliferation|sensory perception 1-phosphatidylinositol-3-kinase regulator activity|gastrin receptor activity|phosphatidylinositol phospholipase C activity|type B gastrin/cholecystokinin receptor binding NS(2)|breast(2)|endometrium(4)|kidney(13)|large_intestine(10)|lung(22)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 61 Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029) Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139) Pentagastrin(DB00183) TGGGCACATTCATCTTTGGCA 0.587000 8 31 0 0 0.003080 0 0 PROKR2 128674 broad.mit.edu 37 20 5294591 5294591 + Missense_Mutation SNP G G T TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr20:5294591G>T ENST00000546004.1 - 2 671 c.425C>A c.(424-426)tCc>tAc p.S142Y PROKR2_ENST00000217270.3_Missense_Mutation_p.S142Y Q8NFJ6 PKR2_HUMAN prokineticin receptor 2 142 integral to membrane|plasma membrane neuropeptide Y receptor activity autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4) 53 GGCATTGGTGGAGACGTAGAG 0.597000 HNSCC(71;0.22) 17 13 1.5739e-10 2.4813e-10 0.004007 1 0 SPATA2 9825 broad.mit.edu 37 20 48522689 48522689 + Missense_Mutation SNP T T A TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr20:48522689T>A ENST00000422556.1 - 3 1379 c.1030A>T c.(1030-1032)Agg>Tgg p.R344W SPATA2_ENST00000289431.5_Missense_Mutation_p.R344W|SPATA2_ENST00000543716.1_Missense_Mutation_p.R207W NM_001135773.1 NP_001129245.1 Q9UM82 SPAT2_HUMAN spermatogenesis associated 2 344 cell differentiation|multicellular organismal development|spermatogenesis cytoplasm|nucleus central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1) 20 Hepatocellular(150;0.133) BRCA - Breast invasive adenocarcinoma(9;4.03e-06) TAGGTGGCCCTGGGTTCAGAG 0.637000 24 25 0 0 0.002780 0 0 TFAP2D 83741 broad.mit.edu 37 6 50718983 50718983 + Missense_Mutation SNP C C A TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr6:50718983C>A ENST00000008391.3 + 7 1313 c.1085C>A c.(1084-1086)tCc>tAc p.S362Y TFAP2D_ENST00000492804.1_3'UTR NM_172238.3 NP_758438.2 Q7Z6R9 AP2D_HUMAN transcription factor AP-2 delta (activating enhancer binding protein 2 delta) 362 H-S-H (helix-span-helix), dimerization. DNA binding|sequence-specific DNA binding transcription factor activity p.S362Y(1) NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1) 60 Lung NSC(77;0.0334) CTGGGATCCTCCAGACCCACT 0.353000 8 22 0.000274275 0.000356097 0.004482 1 0 U2AF1 7307 broad.mit.edu 37 21 44524456 44524456 + Missense_Mutation SNP G G A TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr21:44524456G>A ENST00000291552.4 - 2 193 c.101C>T c.(100-102)tCt>tTt p.S34F U2AF1_ENST00000486519.1_5'UTR|U2AF1_ENST00000398137.1_5'UTR|U2AF1_ENST00000380276.2_Missense_Mutation_p.S34F|U2AF1_ENST00000459639.1_5'UTR NM_006758.2 NP_006749.1 Q01081 U2AF1_HUMAN U2 small nuclear RNA auxiliary factor 1 34 mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription Cajal body|catalytic step 2 spliceosome|nuclear speck nucleotide binding|RNA binding|zinc ion binding p.S34F(45)|p.S34Y(12) breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(111)|large_intestine(2)|lung(7)|prostate(2)|skin(1) 126 GTGCAACCGAGAGCACCTGTC 0.358000 Mis """CLL, MDS""" 3 6 0 0 0.004672 0 0 PGBD4 161779 broad.mit.edu 37 15 34395533 34395533 + Silent SNP G G A TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr15:34395533G>A ENST00000397766.2 + 1 1260 c.801G>A c.(799-801)ccG>ccA p.P267P NM_152595.4 NP_689808.2 Q96DM1 PGBD4_HUMAN piggyBac transposable element derived 4 267 breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|pancreas(1)|prostate(1) 16 all_lung(180;1.76e-08) all cancers(64;1.22e-17)|GBM - Glioblastoma multiforme(113;1.78e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0242) AGTACCTCCCGACAAAACGAG 0.413000 9 16 0 0 0.004482 0 0 TIAM2 26230 broad.mit.edu 37 6 155465783 155465783 + Missense_Mutation SNP G G T TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr6:155465783G>T ENST00000461783.3 + 8 2947 c.1674G>T c.(1672-1674)atG>atT p.M558I TIAM2_ENST00000318981.5_Missense_Mutation_p.M558I|TIAM2_ENST00000456144.1_Missense_Mutation_p.M558I|TIAM2_ENST00000367174.2_5'UTR|TIAM2_ENST00000360366.4_Missense_Mutation_p.M558I|TIAM2_ENST00000529824.2_Missense_Mutation_p.M558I Q8IVF5 TIAM2_HUMAN T-cell lymphoma invasion and metastasis 2 558 PH 1. apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|filopodium|growth cone|lamellipodium receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4) 65 Ovarian(120;0.196) OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053) AGAATTCCATGGATCAGAGCA 0.488000 29 41 2.12542e-12 3.47489e-12 0.006320 1 0 NFKBIZ 64332 broad.mit.edu 37 3 101574687 101574687 + Missense_Mutation SNP A A G TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr3:101574687A>G ENST00000326172.5 + 9 1880 c.1765A>G c.(1765-1767)Aag>Gag p.K589E NFKBIZ_ENST00000394054.2_Missense_Mutation_p.K489E|NFKBIZ_ENST00000326151.5_Missense_Mutation_p.K467E NM_031419.3 NP_113607.1 Q9BYH8 IKBZ_HUMAN nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, zeta 589 Interaction with NFKB1/p50 (By similarity). regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 24 ACTGAAGAATAAGAGTCTGGT 0.448000 13 25 0 0 0.001368 0 0 MROH7 374977 broad.mit.edu 37 1 55144499 55144499 + Missense_Mutation SNP C C T TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr1:55144499C>T ENST00000414150.2 + 11 2299 c.2021C>T c.(2020-2022)cCg>cTg p.P674L MROH7_ENST00000339553.5_Missense_Mutation_p.P674L|MROH7_ENST00000545244.1_Missense_Mutation_p.P242L|MROH7_ENST00000395690.2_Missense_Mutation_p.P674L|MROH7_ENST00000421030.2_Missense_Mutation_p.P674L|MROH7_ENST00000454855.2_Missense_Mutation_p.P192L|MROH7_ENST00000409996.1_Missense_Mutation_p.P242L maestro heat-like repeat family member 7 CCTGTGAGCCCGTGCCAGAAC 0.587000 15 36 0 0 0.004007 0 0 ZNF728 388523 broad.mit.edu 37 19 23159426 23159426 + Missense_Mutation SNP C C A TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr19:23159426C>A ENST00000594710.1 - 4 858 c.713G>T c.(712-714)aGt>aTt p.S238I NM_001267716.1 NP_001254645.1 zinc finger protein 728 TGAGAACTTACTAAAGGCTTT 0.413000 8 11 5.18039e-06 7.05172e-06 0.003080 1 0 RPGR 6103 broad.mit.edu 37 X 38146127 38146127 + Nonsense_Mutation SNP C C A TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chrX:38146127C>A ENST00000378505.2 - 15 2301 c.2125G>T c.(2125-2127)Gag>Tag p.E709* RPGR_ENST00000318842.7_Intron|RPGR_ENST00000342811.3_Intron|RPGR_ENST00000339363.3_Intron|RPGR_ENST00000338898.3_Intron|TM4SF2_ENST00000465127.1_Intron|RPGR_ENST00000309513.3_Intron NM_001034853.1 NP_001030025.1 Q92834 RPGR_HUMAN retinitis pigmentosa GTPase regulator 698 Glu-rich. intracellular protein transport|response to stimulus|visual perception Golgi apparatus|photoreceptor outer segment guanyl-nucleotide exchange factor activity|protein binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 25 tgctcctgctcttccccatcc 0.537000 11 21 0.000673444 0.000852845 0.008291 1 0 SLC24A4 123041 broad.mit.edu 37 14 92909770 92909770 + Silent SNP G G T TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr14:92909770G>T ENST00000532405.1 + 7 835 c.609G>T c.(607-609)gtG>gtT p.V203V SLC24A4_ENST00000531433.1_Silent_p.V203V|SLC24A4_ENST00000298877.1_Silent_p.V186V|SLC24A4_ENST00000351924.5_Silent_p.V186V|SLC24A4_ENST00000393265.2_Silent_p.V139V Q8NFF2 NCKX4_HUMAN solute carrier family 24 (sodium/potassium/calcium exchanger), member 4 203 integral to membrane|plasma membrane calcium, potassium:sodium antiporter activity|symporter activity breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(20)|ovary(2)|skin(1) 36 all_cancers(154;0.0347)|all_epithelial(191;0.163) Colorectal(1;0.00242)|COAD - Colon adenocarcinoma(157;0.047)|Epithelial(152;0.0781)|READ - Rectum adenocarcinoma(1;0.176)|all cancers(159;0.182) GGTGGGCCGTGTGCCGAGACT 0.657000 29 40 1.88708e-17 3.39017e-17 0.008361 1 0 CSMD3 114788 broad.mit.edu 37 8 114326911 114326911 + Missense_Mutation SNP G G C TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr8:114326911G>C ENST00000297405.5 - 2 534 c.290C>G c.(289-291)gCa>gGa p.A97G CSMD3_ENST00000352409.3_Missense_Mutation_p.A97G|CSMD3_ENST00000455883.2_Missense_Mutation_p.A97G|CSMD3_ENST00000343508.3_Missense_Mutation_p.A57G NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 97 CUB 1. integral to membrane|plasma membrane breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 TCGTTCTTCTGCTATTATTAC 0.358000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 65 80 0 0 0.003610 0 0 MARK1 4139 broad.mit.edu 37 1 220824025 220824025 + Missense_Mutation SNP G G A TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr1:220824025G>A ENST00000402574.1 + 14 2131 c.1129G>A c.(1129-1131)Gat>Aat p.D377N MARK1_ENST00000366917.4_Missense_Mutation_p.D512N|MARK1_ENST00000366918.4_Missense_Mutation_p.D490N NM_018650.3 NP_061120.3 Q9P0L2 MARK1_HUMAN MAP/microtubule affinity-regulating kinase 1 512 intracellular protein kinase cascade cytoplasm|microtubule cytoskeleton ATP binding|magnesium ion binding|protein serine/threonine kinase activity central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(12)|lung(22)|ovary(4)|pancreas(1)|skin(3)|stomach(3)|urinary_tract(1) 63 GBM - Glioblastoma multiforme(131;0.0407) AAGGACCACAGATCGATACGT 0.383000 53 62 0 0 0.003610 0 0 PHYHIPL 84457 broad.mit.edu 37 10 60998401 60998401 + Missense_Mutation SNP G G A TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr10:60998401G>A ENST00000373880.4 + 4 796 c.532G>A c.(532-534)Gga>Aga p.G178R PHYHIPL_ENST00000472199.1_3'UTR|PHYHIPL_ENST00000373878.3_Missense_Mutation_p.G152R NM_032439.3 NP_115815.2 Q96FC7 PHIPL_HUMAN phytanoyl-CoA 2-hydroxylase interacting protein-like 178 NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(3)|skin(1)|urinary_tract(1) 18 AGTGATTGCAGGACGCATGCT 0.308000 20 69 0 0 0.007413 0 0 OR4F6 390648 broad.mit.edu 37 15 102346553 102346553 + Missense_Mutation SNP T T C TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr15:102346553T>C ENST00000328882.4 + 1 652 c.631T>C c.(631-633)Ttt>Ctt p.F211L NM_001005326.1 NP_001005326.1 Q8NGB9 OR4F6_HUMAN olfactory receptor, family 4, subfamily F, member 6 211 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|large_intestine(1)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 22 Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505) OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187) TCTGGCTTCTTTTTTAATTCT 0.363000 40 31 0 0 0.005524 0 0 USP31 57478 broad.mit.edu 37 16 23080722 23080722 + Missense_Mutation SNP C C A TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr16:23080722C>A ENST00000219689.7 - 16 2703 c.2704G>T c.(2704-2706)Gca>Tca p.A902S USP31_ENST00000567975.1_Missense_Mutation_p.A195S NM_020718.3 NP_065769.3 Q70CQ4 UBP31_HUMAN ubiquitin specific peptidase 31 902 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) TCATCTGCTGCCTCCCCAATC 0.522000 12 24 1.08611e-07 1.53245e-07 0.000978 1 0 PIK3CB 5291 broad.mit.edu 37 3 138456718 138456718 + Missense_Mutation SNP C C A TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr3:138456718C>A ENST00000477593.1 - 5 705 c.632G>T c.(631-633)aGc>aTc p.S211I PIK3CB_ENST00000289153.2_Missense_Mutation_p.S211I P42338 PK3CB_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta 211 PI3K-RBD. activation of MAPK activity|chemotaxis|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell receptor signaling pathway phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4) 41 CACTTGAAAGCTAAACACGTC 0.348000 6 26 8.12818e-05 0.000107794 0.001984 1 0 ATRNL1 26033 broad.mit.edu 37 10 117228685 117228685 + Missense_Mutation SNP G G T TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr10:117228685G>T ENST00000355044.3 + 24 3626 c.3500G>T c.(3499-3501)gGa>gTa p.G1167V ATRNL1_ENST00000303745.7_Intron|ATRNL1_ENST00000423111.2_Missense_Mutation_p.G218V NM_207303.2 NP_997186.1 Q5VV63 ATRN1_HUMAN attractin-like 1 1167 integral to membrane sugar binding NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234) Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827) ATTTTAGCTGGAACAATATCT 0.219000 7 10 2.0095e-06 2.7475e-06 0.001984 1 0 COL6A3 1293 broad.mit.edu 37 2 238250709 238250709 + Splice_Site SNP C C T TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr2:238250709C>T ENST00000295550.4 - 37 8216 c.7765_splice c.e37+1 p.L2588_splice COL6A3_ENST00000409809.1_Splice_Site_p.L2382_splice|COL6A3_ENST00000347401.3_Splice_Site_p.L2387_splice|COL6A3_ENST00000353578.4_Splice_Site_p.L2382_splice|COL6A3_ENST00000346358.4_Splice_Site_p.L2388_splice|COL6A3_ENST00000472056.1_Splice_Site_p.L1981_splice NM_004369.3 NP_004360.2 P12111 CO6A3_HUMAN collagen, type VI, alpha 3 2588 Nonhelical region. axon guidance|cell adhesion|muscle organ development collagen type VI|extracellular space serine-type endopeptidase inhibitor activity breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4) 217 Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203) Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034) ACAGCTTACCCAAGCAAACAT 0.463000 5 21 0 0 0.000602 0 0 ADAMTS12 81792 broad.mit.edu 37 5 33576368 33576368 + Missense_Mutation SNP G G T TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr5:33576368G>T ENST00000504830.1 - 19 4098 c.3763C>A c.(3763-3765)Cac>Aac p.H1255N ADAMTS12_ENST00000352040.3_Missense_Mutation_p.H1170N NM_030955.2 NP_112217.2 P58397 ATS12_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 12 1255 Spacer 2. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5) 216 TCTGGCTGGTGGTCTCCTCCC 0.527000 HNSCC(64;0.19) 83 85 9.46827e-25 1.91222e-24 0.003610 1 0 CMTM7 112616 broad.mit.edu 37 3 32495741 32495741 + Missense_Mutation SNP G G T TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr3:32495741G>T ENST00000334983.5 + 5 759 c.523G>T c.(523-525)Gtc>Ttc p.V175F CMTM7_ENST00000349718.4_Missense_Mutation_p.V142F NM_138410.2 NP_612419.1 Q96FZ5 CKLF7_HUMAN CKLF-like MARVEL transmembrane domain containing 7 175 chemotaxis extracellular space|integral to membrane cytokine activity endometrium(1)|large_intestine(1)|lung(2) 4 AGATGCAGCCGTCTGATGAGG 0.587000 16 41 5.3912e-06 7.3065e-06 0.006122 1 0 CSF1R 1436 broad.mit.edu 37 5 149447883 149447883 + Silent SNP C C A TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr5:149447883C>A ENST00000286301.3 - 11 1812 c.1521G>T c.(1519-1521)acG>acT p.T507T NM_005211.3 NP_005202.2 P07333 CSF1R_HUMAN colony stimulating factor 1 receptor 507 cell proliferation|multicellular organismal development|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane|receptor complex ATP binding|cytokine binding|macrophage colony-stimulating factor receptor activity|protein homodimerization activity NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3) 93 KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147) Imatinib(DB00619)|Sunitinib(DB01268) CCGGGGGATGCGTGTGGGCTC 0.597000 9 29 2.74318e-10 4.28102e-10 0.006214 1 0 ORC1 4998 broad.mit.edu 37 1 52867035 52867035 + Splice_Site SNP A A G TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr1:52867035A>G ENST00000371568.3 - 3 440 c.223_splice c.e3+1 p.D74_splice ORC1_ENST00000371566.1_Splice_Site_p.D74_splice NM_001190818.1|NM_001190819.1|NM_004153.3 NP_001177747.1|NP_001177748.1|NP_004144.2 Q13415 ORC1_HUMAN origin recognition complex, subunit 1 74 BAH. cell cycle checkpoint|DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle cytosol|nuclear origin of replication recognition complex|nucleolus|nucleoplasm|plasma membrane ATP binding|DNA binding|nucleoside-triphosphatase activity|protein binding breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 CAAACTCACCATCTTCGAACA 0.438000 16 107 0 0 0.004007 0 0 TAF1L 138474 broad.mit.edu 37 9 32634632 32634632 + Missense_Mutation SNP C C A TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr9:32634632C>A ENST00000242310.4 - 1 1035 c.946G>T c.(946-948)Gct>Tct p.A316S RP11-555J4.4_ENST00000430787.1_RNA NM_153809.2 NP_722516.1 Q8IZX4 TAF1L_HUMAN TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like 316 male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent transcription factor TFIID complex DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1) 159 LUSC - Lung squamous cell carcinoma(29;0.0181) GBM - Glioblastoma multiforme(74;0.00301) GGTGGTGGAGCATAGTCATAG 0.473000 33 20 1.08312e-15 1.89087e-15 0.001786 1 0 TP53TG3D 729264 broad.mit.edu 37 16 32264990 32264990 + Missense_Mutation SNP A A T TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr16:32264990A>T ENST00000398664.3 + 1 951 c.316A>T c.(316-318)Aca>Tca p.T106S TP53TG3D_ENST00000354614.3_Missense_Mutation_p.T106S|TP53TG3D_ENST00000569631.1_Intron|RP11-56L13.7_ENST00000562604.1_RNA NM_001243722.1 NP_001230651.1 TP53 target 3D TTGCAGATCAACAAAGGGTCG 0.582000 33 79 0 0 0.003271 0 0 ZNF648 127665 broad.mit.edu 37 1 182026538 182026538 + Missense_Mutation SNP G G T TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr1:182026538G>T ENST00000339948.3 - 2 815 c.608C>A c.(607-609)aCg>aAg p.T203K NM_001009992.1 NP_001009992.1 Q5T619 ZN648_HUMAN zinc finger protein 648 203 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(7)|large_intestine(10)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 40 TGTCTCTTGCGTGGGAAGGTC 0.592000 21 18 0.00121646 0.00152181 0.008871 1 0 TMEM79 84283 broad.mit.edu 37 1 156255576 156255576 + Frame_Shift_Del DEL G G - TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr1:156255576delG ENST00000405535.2 + 2 730 c.559delG c.(559-561)ggfs p.G188fs TMEM79_ENST00000495881.1_3'UTR|TMEM79_ENST00000295694.5_Frame_Shift_Del_p.G188fs|TMEM79_ENST00000357501.2_Intron NM_032323.2 NP_115699.1 Q9BSE2 TMM79_HUMAN transmembrane protein 79 188 integral to membrane breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|urinary_tract(1) 21 Hepatocellular(266;0.158) CTGTTCCTGTGGGGGCTGCGG 0.667 36 90 --- --- --- --- CNTN3 5067 broad.mit.edu 37 3 74411066 74411066 + Frame_Shift_Del DEL C C - TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr3:74411066delC ENST00000263665.6 - 10 1366 c.1339delG c.(1339-1341)atfs p.D447fs NM_020872.1 NP_065923.1 Q9P232 CNTN3_HUMAN contactin 3 (plasmacytoma associated) 447 Ig-like C2-type 5. 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) ACGCTCACATCCCCCTTCTTC 0.473 17 69 --- --- --- --- TRERF1 55809 broad.mit.edu 37 6 42196333 42196333 + Frame_Shift_Del DEL T T - TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr6:42196333delT ENST00000541110.1 - 18 3981 c.3413delA c.(3412-3414)agfs p.K1138fs TRERF1_ENST00000340840.2_Frame_Shift_Del_p.K1047fs|TRERF1_ENST00000372917.4_Frame_Shift_Del_p.K1047fs|TRERF1_ENST00000372922.4_Frame_Shift_Del_p.K1118fs|TRERF1_ENST00000354325.2_Frame_Shift_Del_p.K1035fs Q96PN7 TREF1_HUMAN transcriptional regulating factor 1 1118 Interacts with CREBBP. 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|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor 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) CTTCTGAGCCTTTTGCCTCTG 0.542 8 2246 --- --- --- --- ZNF318 24149 broad.mit.edu 37 6 43305681 43305681 + Frame_Shift_Del DEL C C - TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr6:43305681delC ENST00000361428.2 - 10 6132 c.6055delG c.(6055-6057)atfs p.D2019fs ZNF318_ENST00000318149.3_Intron NM_014345.2 NP_055160.2 Q5VUA4 ZN318_HUMAN zinc finger protein 318 2019 meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus nucleic acid binding|zinc ion binding autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 61 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579) ACAGGCATATCCCCCAGATTC 0.458 38 60 --- --- --- --- CNR1 1268 broad.mit.edu 37 6 88853971 88853971 + Frame_Shift_Del DEL T T - TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr6:88853971delT ENST00000537554.1 - 2 4585 c.1023delA c.(1021-1023)ttfs p.L341fs CNR1_ENST00000549890.1_Frame_Shift_Del_p.L341fs|CNR1_ENST00000362094.5_3'UTR|CNR1_ENST00000369499.2_Frame_Shift_Del_p.L341fs|CNR1_ENST00000535130.1_Frame_Shift_Del_p.L341fs|CNR1_ENST00000468898.1_Frame_Shift_Del_p.L308fs|CNR1_ENST00000428600.2_Frame_Shift_Del_p.L341fs|CNR1_ENST00000549716.1_Frame_Shift_Del_p.L280fs|CNR1_ENST00000369501.2_Frame_Shift_Del_p.L341fs NM_001160226.1|NM_001160258.1 NP_001153698.1|NP_001153730.1 P21554 CNR1_HUMAN cannabinoid receptor 1 (brain) 341 G-protein signaling, coupled to cAMP nucleotide second messenger integral to plasma membrane cannabinoid receptor activity|protein binding breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(10)|urinary_tract(1) 37 all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011) BRCA - Breast invasive adenocarcinoma(108;0.15) Marinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155) GGGTCTTGGCTAACCTAATGT 0.537 28 79 --- --- --- --- AKAP9 10142 broad.mit.edu 37 7 91632378 91632378 + Frame_Shift_Del DEL G G - TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr7:91632378delG ENST00000359028.2 + 9 3408 c.3183delG c.(3181-3183)atfs p.M1061fs AKAP9_ENST00000356239.3_Frame_Shift_Del_p.M1049fs|AKAP9_ENST00000358100.2_Frame_Shift_Del_p.M1061fs Q99996 AKAP9_HUMAN A kinase (PRKA) anchor protein 9 1061 G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport centrosome|cytosol|Golgi apparatus 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) CAAAAATAATGGTGGAAGATA 0.338 T BRAF papillary thyroid 22 29 --- --- --- --- RP11-807H22.7 0 broad.mit.edu 37 11 71888667 71888669 + RNA DEL GAC GAC - TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr11:71888667_71888669delGAC ENST00000378140.3 - 0 419 RP11-807H22.6_ENST00000539482.1_RNA TCAGGTGAGGGACGGAGGAGATG 0.581 6 10 --- --- --- --- BTG4 54766 broad.mit.edu 37 11 111367899 111367900 + Frame_Shift_Ins INS - - A TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr11:111367899_111367900insA ENST00000525791.1 - 4 730_731 c.546_547insT c.(544-549)tttatcfs p.I183fs BTG4_ENST00000356018.2_Intron Q9NY30 BTG4_HUMAN B-cell translocation gene 4 183 cell cycle arrest|negative regulation of cell proliferation|neuron differentiation large_intestine(2)|upper_aerodigestive_tract(1) 3 all_cancers(61;3.78e-13)|all_epithelial(67;5.29e-08)|Melanoma(852;3.15e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0204)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425) Epithelial(105;1.22e-06)|BRCA - Breast invasive adenocarcinoma(274;1.72e-06)|all cancers(92;2.18e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0509) GAATTAGATAGAAAAAAAGTAT 0.317 15 19 --- --- --- --- TP53AIP1 63970 broad.mit.edu 37 11 128807581 128807582 + Frame_Shift_Del DEL GT GT - TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr11:128807581_128807582delGT ENST00000602346.1 - 2 341_342 c.132_133delAC c.(130-135)acctfs p.TP44fs TP53AIP1_ENST00000458238.2_Frame_Shift_Del_p.TP44fs|TP53AIP1_ENST00000530777.1_Frame_Shift_Del_p.TP44fs|TP53AIP1_ENST00000531399.1_Frame_Shift_Del_p.TP44fs NM_001251964.1 NP_001238893.1 Q9HCN2 TPIP1_HUMAN tumor protein p53 regulated apoptosis inducing protein 1 44 apoptosis mitochondrion large_intestine(1)|lung(1)|skin(1) 3 ACCCAGCCAGGTGTGTGTGTCT 0.624 8 58 --- --- --- --- BAGE2 85319 broad.mit.edu 37 21 11047643 11047644 + RNA INS - - G TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr21:11047643_11047644insG ENST00000470054.1 - 0 659 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) AAACTTATGTTTTGCAACATAA 0.371 17 89 --- --- --- ---