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 LRP1 4035 broad.mit.edu 37 12 57553625 57553625 + Missense_Mutation SNP G G A TCGA-F7-A50J-01A-21D-A28R-08 TCGA-F7-A50J-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77490fcd-b6c5-4542-b0c4-7fe1c73a0e94 e7eccbde-9533-47b0-b735-b0f7a3fdf2b6 g.chr12:57553625G>A ENST00000243077.3 + 12 2282 c.1816G>A c.(1816-1818)Ggt>Agt p.G606S NM_002332.2 NP_002323.2 Q07954 LRP1_HUMAN low density lipoprotein receptor-related protein 1 606 aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity coated pit|integral to plasma membrane|nucleus apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 184 BRCA - Breast invasive adenocarcinoma(357;0.0103) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031) CAATGTGGAGGGTGTGGCCGT 0.577000 25 85 0 0 1 0 0 NFAT5 10725 broad.mit.edu 37 16 69725771 69725771 + Silent SNP G G A TCGA-F7-A50J-01A-21D-A28R-08 TCGA-F7-A50J-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77490fcd-b6c5-4542-b0c4-7fe1c73a0e94 e7eccbde-9533-47b0-b735-b0f7a3fdf2b6 g.chr16:69725771G>A ENST00000349945.1 + 14 3313 c.1761G>A c.(1759-1761)caG>caA p.Q587Q NFAT5_ENST00000432919.1_Silent_p.Q681Q|NFAT5_ENST00000566899.1_Silent_p.Q587Q|NFAT5_ENST00000393742.2_Silent_p.Q587Q|NFAT5_ENST00000567239.1_Silent_p.Q680Q|NFAT5_ENST00000354436.2_Silent_p.Q663Q NM_138714.3 NP_619728.2 O94916 NFAT5_HUMAN nuclear factor of activated T-cells 5, tonicity-responsive 663 excretion|signal transduction|transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 37 AAAAACAGCAGCAGATTCAGC 0.438000 9 95 0 0 1 0 0 FAM47A 158724 broad.mit.edu 37 X 34149642 34149642 + Missense_Mutation SNP G G C TCGA-F7-A50J-01A-21D-A28R-08 TCGA-F7-A50J-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77490fcd-b6c5-4542-b0c4-7fe1c73a0e94 e7eccbde-9533-47b0-b735-b0f7a3fdf2b6 g.chrX:34149642G>C ENST00000346193.3 - 1 805 c.754C>G c.(754-756)Ccc>Gcc p.P252A NM_203408.3 NP_981953.2 Q5JRC9 FA47A_HUMAN family with sequence similarity 47, member A 252 Pro-rich. NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2) 97 CGAGTGATGGGAGGCCCCGGG 0.632000 20 71 0 0 1 0 0 PTPN21 11099 broad.mit.edu 37 14 88945893 88945893 + Missense_Mutation SNP G G A TCGA-F7-A50J-01A-21D-A28R-08 TCGA-F7-A50J-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77490fcd-b6c5-4542-b0c4-7fe1c73a0e94 e7eccbde-9533-47b0-b735-b0f7a3fdf2b6 g.chr14:88945893G>A ENST00000556564.1 - 13 2166 c.1882C>T c.(1882-1884)Cgc>Tgc p.R628C PTPN21_ENST00000328736.3_Missense_Mutation_p.R628C NM_007039.3 NP_008970.2 Q16825 PTN21_HUMAN protein tyrosine phosphatase, non-receptor type 21 628 cytoplasm|cytoskeleton binding|protein tyrosine phosphatase activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 TGCGCGTGGCGCGCGGCGGTG 0.711000 17 44 0 0 1 0 0 CELSR2 1952 broad.mit.edu 37 1 109794268 109794268 + Silent SNP C C T TCGA-F7-A50J-01A-21D-A28R-08 TCGA-F7-A50J-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77490fcd-b6c5-4542-b0c4-7fe1c73a0e94 e7eccbde-9533-47b0-b735-b0f7a3fdf2b6 g.chr1:109794268C>T ENST00000271332.3 + 1 1628 c.1567C>T c.(1567-1569)Ctg>Ttg p.L523L NM_001408.2 NP_001399.1 Q9HCU4 CELR2_HUMAN cadherin, EGF LAG seven-pass G-type receptor 2 523 Cadherin 4. dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2) 82 all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244) Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219) CTTAGGCTACCTGGTTCTCCA 0.562000 19 113 0 0 1 0 0 OR4D5 219875 broad.mit.edu 37 11 123811145 123811145 + Silent SNP A A G TCGA-F7-A50J-01A-21D-A28R-08 TCGA-F7-A50J-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77490fcd-b6c5-4542-b0c4-7fe1c73a0e94 e7eccbde-9533-47b0-b735-b0f7a3fdf2b6 g.chr11:123811145A>G ENST00000307033.2 + 1 896 c.822A>G c.(820-822)ctA>ctG p.L274L NM_001001965.1 NP_001001965.1 Q8NGN0 OR4D5_HUMAN olfactory receptor, family 4, subfamily D, member 5 274 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 41 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399) TCTCTGTGCTATACACAATTG 0.488000 16 131 0 0 1 0 0 FOSL1 8061 broad.mit.edu 37 11 65660431 65660431 + Missense_Mutation SNP G G T TCGA-F7-A50J-01A-21D-A28R-08 TCGA-F7-A50J-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77490fcd-b6c5-4542-b0c4-7fe1c73a0e94 e7eccbde-9533-47b0-b735-b0f7a3fdf2b6 g.chr11:65660431G>T ENST00000312562.2 - 4 928 c.742C>A c.(742-744)Cat>Aat p.H248N FOSL1_ENST00000532401.1_3'UTR|FOSL1_ENST00000531493.1_Missense_Mutation_p.H212N|FOSL1_ENST00000448083.2_Missense_Mutation_p.H146N NM_005438.3 NP_005429.1 P15407 FOSL1_HUMAN FOS-like antigen 1 248 cellular defense response|chemotaxis|positive regulation of cell proliferation|response to virus|transcription from RNA polymerase II promoter nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1) 10 READ - Rectum adenocarcinoma(159;0.168) CTCTTGCGATGAGCTGAGGCA 0.612000 12 82 5.50884e-06 5.74128e-06 1 1 0 TRPV4 59341 broad.mit.edu 37 12 110226428 110226428 + Missense_Mutation SNP T T A TCGA-F7-A50J-01A-21D-A28R-08 TCGA-F7-A50J-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77490fcd-b6c5-4542-b0c4-7fe1c73a0e94 e7eccbde-9533-47b0-b735-b0f7a3fdf2b6 g.chr12:110226428T>A ENST00000418703.2 - 12 2079 c.1985A>T c.(1984-1986)gAc>gTc p.D662V TRPV4_ENST00000346520.2_Missense_Mutation_p.D602V|TRPV4_ENST00000261740.2_Missense_Mutation_p.D662V|TRPV4_ENST00000392719.2_Missense_Mutation_p.D615V|TRPV4_ENST00000541794.1_Missense_Mutation_p.D615V|TRPV4_ENST00000537083.1_Missense_Mutation_p.D602V|TRPV4_ENST00000536838.1_Missense_Mutation_p.D628V|TRPV4_ENST00000544971.1_Missense_Mutation_p.D555V NM_001177431.1 NP_001170902.1 Q9HBA0 TRPV4_HUMAN transient receptor potential cation channel, subfamily V, member 4 662 actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding|SH2 domain binding breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1) 35 GGTCTCGCTGTCACGGCACGA 0.597000 17 179 0 0 1 0 0 TCP10L2 401285 broad.mit.edu 37 6 167595385 167595385 + Missense_Mutation SNP G G C TCGA-F7-A50J-01A-21D-A28R-08 TCGA-F7-A50J-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77490fcd-b6c5-4542-b0c4-7fe1c73a0e94 e7eccbde-9533-47b0-b735-b0f7a3fdf2b6 g.chr6:167595385G>C ENST00000366832.2 + 8 1174 c.1043G>C c.(1042-1044)aGa>aCa p.R348T NM_001145121.1 NP_001138593.1 B9ZVM9 B9ZVM9_HUMAN t-complex 10-like 2 348 endometrium(1)|kidney(2)|lung(3) 6 GCTCCCTCCAGACAGGACATG 0.522000 9 16 0 0 1 0 0 CHD2 1106 broad.mit.edu 37 15 93547975 93547975 + Silent SNP C C T TCGA-F7-A50J-01A-21D-A28R-08 TCGA-F7-A50J-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77490fcd-b6c5-4542-b0c4-7fe1c73a0e94 e7eccbde-9533-47b0-b735-b0f7a3fdf2b6 g.chr15:93547975C>T ENST00000394196.4 + 34 5475 c.4407C>T c.(4405-4407)ttC>ttT p.F1469F CHD2_ENST00000557381.1_Silent_p.F1469F NM_001271.3 NP_001262.3 O14647 CHD2_HUMAN chromodomain helicase DNA binding protein 2 1469 regulation of transcription from RNA polymerase II promoter nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2) 47 Lung NSC(78;0.00976)|all_lung(78;0.016) BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814) AGGAGACATTCAGCATAGTAA 0.512000 36 69 0 0 1 0 0 TLN1 7094 broad.mit.edu 37 9 35707817 35707817 + Missense_Mutation SNP G G C TCGA-F7-A50J-01A-21D-A28R-08 TCGA-F7-A50J-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77490fcd-b6c5-4542-b0c4-7fe1c73a0e94 e7eccbde-9533-47b0-b735-b0f7a3fdf2b6 g.chr9:35707817G>C ENST00000314888.9 - 35 4896 c.4543C>G c.(4543-4545)Cgt>Ggt p.R1515G TLN1_ENST00000540444.1_Missense_Mutation_p.R1515G|TLN1_ENST00000464379.1_5'UTR NM_006289.3 NP_006280.3 Q9Y490 TLN1_HUMAN talin 1 1515 Interaction with SYNM. axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6) 85 all_epithelial(49;0.167) Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194) TTGGTGGTACGGGCAGAAGCC 0.542000 21 179 0 0 1 0 0 ALK 238 broad.mit.edu 37 2 29754892 29754892 + Missense_Mutation SNP G G A TCGA-F7-A50J-01A-21D-A28R-08 TCGA-F7-A50J-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77490fcd-b6c5-4542-b0c4-7fe1c73a0e94 e7eccbde-9533-47b0-b735-b0f7a3fdf2b6 g.chr2:29754892G>A ENST00000389048.3 - 4 1949 c.1043C>T c.(1042-1044)gCc>gTc p.A348V ALK_ENST00000431873.1_Intron NM_004304.4 NP_004295.2 Q9UM73 ALK_HUMAN anaplastic lymphoma receptor tyrosine kinase 348 MAM 1. protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9) NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2) 340 Acute lymphoblastic leukemia(172;0.155) Adenosine triphosphate(DB00171) CACCGAGACGGCCAGTGTGCA 0.592000 """T, Mis, A""" """NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22""" """ALCL, NSCLC, Neuroblastoma""" neuroblastoma Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome 9 79 0 0 1 0 0 ACTN3 89 broad.mit.edu 37 11 66322064 66322064 + RNA SNP G G A TCGA-F7-A50J-01A-21D-A28R-08 TCGA-F7-A50J-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77490fcd-b6c5-4542-b0c4-7fe1c73a0e94 e7eccbde-9533-47b0-b735-b0f7a3fdf2b6 g.chr11:66322064G>A ENST00000502692.1 + 0 772 ACTN3_ENST00000513398.1_RNA NM_001258371.1 NP_001245300.1 Q08043 ACTN3_HUMAN actinin, alpha 3 (gene/pseudogene) focal adhesion assembly|muscle filament sliding|regulation of apoptosis actin filament|cytosol|focal adhesion|pseudopodium actin binding|calcium ion binding|integrin binding|protein homodimerization activity|structural constituent of muscle breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2) 10 GCACCGTACCGCAACGTCAAC 0.587000 6 24 0 0 1 0 0 PCDHB13 56123 broad.mit.edu 37 5 140594317 140594317 + Missense_Mutation SNP G G A TCGA-F7-A50J-01A-21D-A28R-08 TCGA-F7-A50J-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77490fcd-b6c5-4542-b0c4-7fe1c73a0e94 e7eccbde-9533-47b0-b735-b0f7a3fdf2b6 g.chr5:140594317G>A ENST00000341948.4 + 1 809 c.622G>A c.(622-624)Gag>Aag p.E208K NM_018933.2 NP_061756.1 Q9Y5F0 PCDBD_HUMAN 208 Cadherin 2. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1) 66 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GGAAGAAGCTGAGCTCAGGTT 0.562000 5 116 0 0 1 0 0 AKAP17A 8227 broad.mit.edu 37 X 1712553 1712553 + Silent SNP G G T rs145575351 TCGA-F7-A50J-01A-21D-A28R-08 TCGA-F7-A50J-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77490fcd-b6c5-4542-b0c4-7fe1c73a0e94 e7eccbde-9533-47b0-b735-b0f7a3fdf2b6 g.chrX:1712553G>T ENST00000313871.3 + 2 394 c.198G>T c.(196-198)acG>acT p.T66T AKAP17A_ENST00000381261.3_Silent_p.T66T NM_005088.2 NP_005079.2 Q02040 AK17A_HUMAN A kinase (PRKA) anchor protein 17A 66 B cell activation|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|signal transduction nuclear speck|spliceosomal complex nucleotide binding|protein binding|RNA binding breast(2)|endometrium(5)|kidney(3)|large_intestine(1)|lung(12)|prostate(3) 26 AGTTCTCCACGCTGCGTATTT 0.592000 28 254 3.73148e-12 4.06024e-12 1 1 0 PLCB1 23236 broad.mit.edu 37 20 8745842 8745842 + Nonsense_Mutation SNP C C T TCGA-F7-A50J-01A-21D-A28R-08 TCGA-F7-A50J-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77490fcd-b6c5-4542-b0c4-7fe1c73a0e94 e7eccbde-9533-47b0-b735-b0f7a3fdf2b6 g.chr20:8745842C>T ENST00000378641.3 + 26 3242 c.2767C>T c.(2767-2769)Caa>Taa p.Q923* PLCB1_ENST00000338037.6_Nonsense_Mutation_p.Q923*|PLCB1_ENST00000494924.1_3'UTR|PLCB1_ENST00000378637.2_Nonsense_Mutation_p.Q923* NM_182734.1 NP_877398.1 Q9NQ66 PLCB1_HUMAN phospholipase C, beta 1 (phosphoinositide-specific) 923 activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission cytosol|nuclear chromatin|nuclear speck calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4) 95 TGTGAAACTTCAAAAGAAACA 0.378000 6 40 0 0 1 0 0 RETNLB 84666 broad.mit.edu 37 3 108475982 108475982 + Silent SNP C C T TCGA-F7-A50J-01A-21D-A28R-08 TCGA-F7-A50J-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77490fcd-b6c5-4542-b0c4-7fe1c73a0e94 e7eccbde-9533-47b0-b735-b0f7a3fdf2b6 g.chr3:108475982C>T ENST00000295755.6 - 1 249 c.51G>A c.(49-51)ctG>ctA p.L17L NM_032579.2 NP_115968.1 Q9BQ08 RETNB_HUMAN resistin like beta 17 cell proliferation extracellular region hormone activity p.L17L(1) endometrium(1)|kidney(3)|lung(10)|prostate(1)|skin(1) 16 CCGGGTTGATCAGCTGGAGAA 0.522000 18 36 0 0 1 0 0 DNAH11 8701 broad.mit.edu 37 7 21818701 21818701 + Silent SNP C C T TCGA-F7-A50J-01A-21D-A28R-08 TCGA-F7-A50J-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77490fcd-b6c5-4542-b0c4-7fe1c73a0e94 e7eccbde-9533-47b0-b735-b0f7a3fdf2b6 g.chr7:21818701C>T ENST00000328843.6 + 58 9514 c.9483C>T c.(9481-9483)atC>atT p.I3161I DNAH11_ENST00000409508.3_Silent_p.I3154I Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 3161 Stalk (By similarity). microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 230 AAAAGACCATCGCTGATGCTG 0.463000 Kartagener syndrome 6 34 0 0 1 0 0 FAM47B 170062 broad.mit.edu 37 X 34962366 34962366 + Missense_Mutation SNP G G C TCGA-F7-A50J-01A-21D-A28R-08 TCGA-F7-A50J-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77490fcd-b6c5-4542-b0c4-7fe1c73a0e94 e7eccbde-9533-47b0-b735-b0f7a3fdf2b6 g.chrX:34962366G>C ENST00000329357.5 + 1 1454 c.1418G>C c.(1417-1419)gGa>gCa p.G473A NM_152631.2 NP_689844.2 Q8NA70 FA47B_HUMAN family with sequence similarity 47, member B 473 breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3) 71 GGAGACCTAGGAGTTAATGAA 0.453000 15 135 0 0 1 0 0 USH2A 7399 broad.mit.edu 37 1 216495239 216495239 + Missense_Mutation SNP T T C TCGA-F7-A50J-01A-21D-A28R-08 TCGA-F7-A50J-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77490fcd-b6c5-4542-b0c4-7fe1c73a0e94 e7eccbde-9533-47b0-b735-b0f7a3fdf2b6 g.chr1:216495239T>C ENST00000366943.2 - 9 2016 c.1630A>G c.(1630-1632)Act>Gct p.T544A USH2A_ENST00000307340.3_Missense_Mutation_p.T544A|USH2A_ENST00000366942.3_Missense_Mutation_p.T544A O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 544 Laminin EGF-like 1. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) AGTCCTTCAGTGAAGCTCTCC 0.413000 HNSCC(13;0.011) 13 72 0 0 1 0 0 MPP2 4355 broad.mit.edu 37 17 41975692 41975692 + Missense_Mutation SNP C C G TCGA-F7-A50J-01A-21D-A28R-08 TCGA-F7-A50J-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77490fcd-b6c5-4542-b0c4-7fe1c73a0e94 e7eccbde-9533-47b0-b735-b0f7a3fdf2b6 g.chr17:41975692C>G ENST00000269095.4 - 3 392 c.88G>C c.(88-90)Gag>Cag p.E30Q MPP2_ENST00000473246.1_5'UTR|MPP2_ENST00000518766.1_Missense_Mutation_p.E75Q|MPP2_ENST00000377184.3_Missense_Mutation_p.E47Q|MPP2_ENST00000461854.1_Missense_Mutation_p.E30Q|MPP2_ENST00000536246.1_Missense_Mutation_p.E19Q|MPP2_ENST00000520305.1_Intron|MPP2_ENST00000523501.1_Missense_Mutation_p.E19Q NM_001278370.1|NM_001278381.1|NM_005374.3 NP_001265299.1|NP_001265310.1|NP_005365.3 Q14168 MPP2_HUMAN membrane protein, palmitoylated 2 (MAGUK p55 subfamily member 2) 30 L27 1. signal transduction cell surface|integral to plasma membrane|membrane fraction guanylate kinase activity breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(4)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1) 29 Breast(137;0.00314) BRCA - Breast invasive adenocarcinoma(366;0.12) AGGTCCAGCTCTGCAGCCCCC 0.592000 6 42 0 0 1 0 0 SCUBE2 57758 broad.mit.edu 37 11 9077436 9077436 + Missense_Mutation SNP C C T TCGA-F7-A50J-01A-21D-A28R-08 TCGA-F7-A50J-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77490fcd-b6c5-4542-b0c4-7fe1c73a0e94 e7eccbde-9533-47b0-b735-b0f7a3fdf2b6 g.chr11:9077436C>T ENST00000457346.2 - 10 1185 c.1111G>A c.(1111-1113)Gat>Aat p.D371N SCUBE2_ENST00000450649.2_Missense_Mutation_p.D371N|SCUBE2_ENST00000520467.1_Missense_Mutation_p.D371N|RP11-467K18.2_ENST00000531592.1_RNA|SCUBE2_ENST00000309263.3_Missense_Mutation_p.D371N Q9NQ36 SCUB2_HUMAN signal peptide, CUB domain, EGF-like 2 371 EGF-like 8; calcium-binding (Potential). extracellular region calcium ion binding breast(1)|endometrium(5)|kidney(3)|large_intestine(15)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 42 all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116) CAGGTCCTATCCAAAGAGCAC 0.498000 16 200 0 0 1 0 0 NLRP12 91662 broad.mit.edu 37 19 54313706 54313706 + Missense_Mutation SNP C C T TCGA-F7-A50J-01A-21D-A28R-08 TCGA-F7-A50J-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77490fcd-b6c5-4542-b0c4-7fe1c73a0e94 e7eccbde-9533-47b0-b735-b0f7a3fdf2b6 g.chr19:54313706C>T ENST00000324134.6 - 3 1375 c.1207G>A c.(1207-1209)Gtc>Atc p.V403I NLRP12_ENST00000535162.1_Missense_Mutation_p.V403I|NLRP12_ENST00000391772.1_Missense_Mutation_p.V403I|NLRP12_ENST00000391773.1_Missense_Mutation_p.V403I|NLRP12_ENST00000354278.3_Missense_Mutation_p.V403I|NLRP12_ENST00000345770.5_Missense_Mutation_p.V403I|NLRP12_ENST00000391775.3_Missense_Mutation_p.V403I|NLRP12_ENST00000351894.4_Missense_Mutation_p.V403I NM_001277126.1|NM_144687.2 NP_001264055.1|NP_653288.1 P59046 NAL12_HUMAN NLR family, pyrin domain containing 12 403 NACHT. negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB cytoplasm ATP binding|caspase activator activity|protein binding p.V403F(1) NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 80 Ovarian(34;0.19) GBM - Glioblastoma multiforme(134;0.026) ACCAGGGGGACGAAGCACATG 0.557000 46 258 0 0 1 0 0 OR5D18 219438 broad.mit.edu 37 11 55587459 55587459 + Silent SNP G G A TCGA-F7-A50J-01A-21D-A28R-08 TCGA-F7-A50J-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77490fcd-b6c5-4542-b0c4-7fe1c73a0e94 e7eccbde-9533-47b0-b735-b0f7a3fdf2b6 g.chr11:55587459G>A ENST00000333976.4 + 1 374 c.354G>A c.(352-354)gtG>gtA p.V118V NM_001001952.1 NP_001001952.1 Q8NGL1 OR5DI_HUMAN olfactory receptor, family 5, subfamily D, member 18 118 V -> M (in dbSNP:rs11231180). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 all_epithelial(135;0.208) TATTAGCTGTGATGGCCTATG 0.443000 32 174 0 0 1 0 0 SPTA1 6708 broad.mit.edu 37 1 158650472 158650472 + Silent SNP G G A TCGA-F7-A50J-01A-21D-A28R-08 TCGA-F7-A50J-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77490fcd-b6c5-4542-b0c4-7fe1c73a0e94 e7eccbde-9533-47b0-b735-b0f7a3fdf2b6 g.chr1:158650472G>A ENST00000368148.3 - 5 759 c.579C>T c.(577-579)acC>acT p.T193T SPTA1_ENST00000368147.3_Silent_p.T193T NM_003126.2 NP_003117.2 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 (elliptocytosis 2) 193 actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6) 307 all_hematologic(112;0.0378) GCAGAACTTCGGTGCGCTCCC 0.463000 8 63 0 0 1 0 0 SLC13A3 64849 broad.mit.edu 37 20 45224897 45224897 + Nonsense_Mutation SNP C C T TCGA-F7-A50J-01A-21D-A28R-08 TCGA-F7-A50J-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77490fcd-b6c5-4542-b0c4-7fe1c73a0e94 e7eccbde-9533-47b0-b735-b0f7a3fdf2b6 g.chr20:45224897C>T ENST00000279027.4 - 5 711 c.693G>A c.(691-693)tgG>tgA p.W231* SLC13A3_ENST00000413164.2_Missense_Mutation_p.G209E|SLC13A3_ENST00000396360.1_Nonsense_Mutation_p.W184*|SLC13A3_ENST00000290317.5_Nonsense_Mutation_p.W184*|SLC13A3_ENST00000372121.1_Missense_Mutation_p.G209E|SLC13A3_ENST00000472148.1_Nonsense_Mutation_p.W184*|SLC13A3_ENST00000435032.1_5'UTR|SLC13A3_ENST00000495082.1_Nonsense_Mutation_p.W184* NM_001193342.1|NM_022829.5 NP_001180271.1|NP_073740.2 Q8WWT9 S13A3_HUMAN solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3 231 integral to membrane|plasma membrane high affinity sodium:dicarboxylate symporter activity breast(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 31 Myeloproliferative disorder(115;0.0122) Succinic acid(DB00139) GGAAGCCCTTCCAGATGTTCC 0.552000 13 122 0 0 1 0 0 CROCCP2 84809 broad.mit.edu 37 1 16946407 16946407 + RNA SNP T T G rs10796418 by1000genomes TCGA-F7-A50J-01A-21D-A28R-08 TCGA-F7-A50J-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77490fcd-b6c5-4542-b0c4-7fe1c73a0e94 e7eccbde-9533-47b0-b735-b0f7a3fdf2b6 g.chr1:16946407T>G ENST00000412962.1 - 0 1112 AGCAATCTCCTCACTCAGCTG 0.672000 4 22 0 0 1 0 0 GLI1 2735 broad.mit.edu 37 12 57860075 57860075 + Missense_Mutation SNP G G T TCGA-F7-A50J-01A-21D-A28R-08 TCGA-F7-A50J-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77490fcd-b6c5-4542-b0c4-7fe1c73a0e94 e7eccbde-9533-47b0-b735-b0f7a3fdf2b6 g.chr12:57860075G>T ENST00000228682.2 + 8 906 c.815G>T c.(814-816)tGg>tTg p.W272L GLI1_ENST00000543426.1_Missense_Mutation_p.W144L|GLI1_ENST00000546141.1_Missense_Mutation_p.W231L NM_005269.2 NP_005260.1 P08151 GLI1_HUMAN GLI family zinc finger 1 272 epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter cytosol|nucleus transcription regulatory region DNA binding|zinc ion binding NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 69 GBM - Glioblastoma multiforme(3;3.99e-32) GTGTGCCACTGGGGGGGCTGC 0.597000 38 244 5.04308e-16 5.5609e-16 1 1 0 OR51A7 119687 broad.mit.edu 37 11 4929490 4929490 + Silent SNP A A G rs145385072 TCGA-F7-A50J-01A-21D-A28R-08 TCGA-F7-A50J-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77490fcd-b6c5-4542-b0c4-7fe1c73a0e94 e7eccbde-9533-47b0-b735-b0f7a3fdf2b6 g.chr11:4929490A>G ENST00000359350.4 + 1 891 c.891A>G c.(889-891)caA>caG p.Q297Q MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron NM_001004749.1 NP_001004749.1 Q8NH64 O51A7_HUMAN olfactory receptor, family 51, subfamily A, member 7 297 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(1)|large_intestine(7)|lung(13)|ovary(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 33 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19) AGACTCGACAAATCTGGGAGA 0.408000 8 90 0 0 1 0 0 COL4A1 1282 broad.mit.edu 37 13 110831646 110831646 + Silent SNP G G A TCGA-F7-A50J-01A-21D-A28R-08 TCGA-F7-A50J-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77490fcd-b6c5-4542-b0c4-7fe1c73a0e94 e7eccbde-9533-47b0-b735-b0f7a3fdf2b6 g.chr13:110831646G>A ENST00000375820.4 - 30 2437 c.2316C>T c.(2314-2316)atC>atT p.I772I NM_001845.4 NP_001836.2 P02462 CO4A1_HUMAN collagen, type IV, alpha 1 772 Triple-helical region. angiogenesis|axon guidance extracellular matrix structural constituent|platelet-derived growth factor binding breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 105 all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604) Breast(118;0.2) BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145) CAGGGGGTCCGATCGCTCCAT 0.577000 41 115 0 0 1 0 0 NEBL 10529 broad.mit.edu 37 10 21097543 21097543 + Missense_Mutation SNP C C G TCGA-F7-A50J-01A-21D-A28R-08 TCGA-F7-A50J-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77490fcd-b6c5-4542-b0c4-7fe1c73a0e94 e7eccbde-9533-47b0-b735-b0f7a3fdf2b6 g.chr10:21097543C>G ENST00000377122.4 - 26 3053 c.2657G>C c.(2656-2658)aGc>aCc p.S886T NEBL_ENST00000417816.2_Intron|NEBL_ENST00000377159.4_Intron NM_006393.2 NP_006384.1 O76041 NEBL_HUMAN nebulette 886 Linker. regulation of actin filament length actin binding|structural constituent of muscle NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 70 GAAAGTACTGCTGGAATGGGA 0.443000 10 88 0 0 1 0 0 SACS 26278 broad.mit.edu 37 13 23912107 23912107 + Nonsense_Mutation SNP C C A TCGA-F7-A50J-01A-21D-A28R-08 TCGA-F7-A50J-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77490fcd-b6c5-4542-b0c4-7fe1c73a0e94 e7eccbde-9533-47b0-b735-b0f7a3fdf2b6 g.chr13:23912107C>A ENST00000382298.3 - 10 6496 c.5908G>T c.(5908-5910)Gga>Tga p.G1970* SACS_ENST00000382292.3_Nonsense_Mutation_p.G1970*|SACS_ENST00000402364.1_Nonsense_Mutation_p.G1220* NM_014363.4 NP_055178.3 Q9NZJ4 SACS_HUMAN spastic ataxia of Charlevoix-Saguenay (sacsin) 1970 cell death|negative regulation of inclusion body assembly|protein folding axon|cell body fiber|dendrite|mitochondrion|nucleus ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11) 189 all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128) all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189) TTCCCTTTTCCATGAGCTATA 0.358000 3 42 1 1 1 1 0 CCNJ 54619 broad.mit.edu 37 10 97816658 97816658 + Missense_Mutation SNP G G A TCGA-F7-A50J-01A-21D-A28R-08 TCGA-F7-A50J-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77490fcd-b6c5-4542-b0c4-7fe1c73a0e94 e7eccbde-9533-47b0-b735-b0f7a3fdf2b6 g.chr10:97816658G>A ENST00000265992.5 + 4 848 c.481G>A c.(481-483)Gaa>Aaa p.E161K ENTPD1-AS1_ENST00000454638.1_RNA|ENTPD1-AS1_ENST00000452728.1_RNA|CCNJ_ENST00000534974.1_Missense_Mutation_p.E161K|ENTPD1-AS1_ENST00000451364.1_RNA|ENTPD1-AS1_ENST00000458228.1_RNA|CCNJ_ENST00000403870.3_Missense_Mutation_p.E161K|CCNJ_ENST00000465148.2_Missense_Mutation_p.E161K|ENTPD1-AS1_ENST00000427846.1_RNA|ENTPD1-AS1_ENST00000416301.1_RNA NM_001134375.1|NM_001134376.1|NM_019084.4 NP_001127847.1|NP_001127848.1|NP_061957.2 Q5T5M9 CCNJ_HUMAN cyclin J 161 nucleus breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1) 11 Epithelial(162;6.1e-08)|all cancers(201;2.32e-06) AGCAGTACACGAAACAGATCT 0.413000 14 65 0 0 1 0 0 GLRA3 8001 broad.mit.edu 37 4 175598261 175598261 + Missense_Mutation SNP G G C TCGA-F7-A50J-01A-21D-A28R-08 TCGA-F7-A50J-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77490fcd-b6c5-4542-b0c4-7fe1c73a0e94 e7eccbde-9533-47b0-b735-b0f7a3fdf2b6 g.chr4:175598261G>C ENST00000274093.3 - 7 1397 c.895C>G c.(895-897)Cag>Gag p.Q299E GLRA3_ENST00000340217.5_Missense_Mutation_p.Q299E NM_006529.2 NP_006520.2 O75311 GLRA3_HUMAN glycine receptor, alpha 3 299 synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity endometrium(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1) 35 Prostate(90;0.00601)|Breast(14;0.0091)|Melanoma(52;0.00959)|Renal(120;0.0183)|all_neural(102;0.0891)|all_hematologic(60;0.107) all cancers(43;4.99e-18)|Epithelial(43;1.18e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.88e-09)|STAD - Stomach adenocarcinoma(60;0.00442)|GBM - Glioblastoma multiforme(59;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0421) Glycine(DB00145) CCTGAACTCTGTGTAGTCATC 0.448000 3 33 0 0 1 0 0 SCAPER 49855 broad.mit.edu 37 15 77092692 77092692 + Missense_Mutation SNP C C T TCGA-F7-A50J-01A-21D-A28R-08 TCGA-F7-A50J-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77490fcd-b6c5-4542-b0c4-7fe1c73a0e94 e7eccbde-9533-47b0-b735-b0f7a3fdf2b6 g.chr15:77092692C>T ENST00000563290.1 - 7 603 c.508G>A c.(508-510)Gca>Aca p.A170T SCAPER_ENST00000538941.2_5'UTR|SCAPER_ENST00000324767.7_Missense_Mutation_p.A170T Q9BY12 SCAPE_HUMAN S-phase cyclin A-associated protein in the ER 169 endoplasmic reticulum|nucleus zinc ion binding NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(16)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2) 39 ACTTCCCATGCCAATGATGTT 0.363000 3 30 0 0 1 0 0 SCYL2 55681 broad.mit.edu 37 12 100709390 100709390 + Missense_Mutation SNP G G A TCGA-F7-A50J-01A-21D-A28R-08 TCGA-F7-A50J-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77490fcd-b6c5-4542-b0c4-7fe1c73a0e94 e7eccbde-9533-47b0-b735-b0f7a3fdf2b6 g.chr12:100709390G>A ENST00000360820.2 + 9 1587 c.1150G>A c.(1150-1152)Gac>Aac p.D384N NM_017988.4 NP_060458.3 Q6P3W7 SCYL2_HUMAN SCY1-like 2 (S. cerevisiae) 384 endosome to lysosome transport|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of clathrin-mediated endocytosis|positive regulation of receptor internalization clathrin-coated vesicle|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm ATP binding|protein kinase activity|receptor binding central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(4)|lung(15)|ovary(2)|skin(1) 41 TGTAAACCCTGACATGGTACC 0.328000 7 68 0 0 1 0 0 TTPAL 79183 broad.mit.edu 37 20 43108867 43108867 + Silent SNP C C T TCGA-F7-A50J-01A-21D-A28R-08 TCGA-F7-A50J-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77490fcd-b6c5-4542-b0c4-7fe1c73a0e94 e7eccbde-9533-47b0-b735-b0f7a3fdf2b6 g.chr20:43108867C>T ENST00000372904.3 + 3 371 c.228C>T c.(226-228)ctC>ctT p.L76L TTPAL_ENST00000262605.4_Silent_p.L76L|TTPAL_ENST00000372906.2_Silent_p.L76L NM_024331.4 NP_077307.2 Q9BTX7 TTPAL_HUMAN tocopherol (alpha) transfer protein-like 76 intracellular transporter activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|ovary(2)|skin(5) 18 GCACATCCCTCGACGATGCCT 0.597000 7 52 0 0 1 0 0 RBFOX2 23543 broad.mit.edu 37 22 36142542 36142542 + Missense_Mutation SNP C C T TCGA-F7-A50J-01A-21D-A28R-08 TCGA-F7-A50J-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77490fcd-b6c5-4542-b0c4-7fe1c73a0e94 e7eccbde-9533-47b0-b735-b0f7a3fdf2b6 g.chr22:36142542C>T ENST00000449924.2 - 11 1191 c.1003G>A c.(1003-1005)Gct>Act p.A335T RBFOX2_ENST00000262829.7_Missense_Mutation_p.A313T|RBFOX2_ENST00000414461.2_Silent_p.P321P|RBFOX2_ENST00000438146.2_Missense_Mutation_p.A406T|RBFOX2_ENST00000359369.4_Silent_p.P321P|RBFOX2_ENST00000405409.2_Silent_p.P318P|RBFOX2_ENST00000397303.2_Missense_Mutation_p.A312T|RBFOX2_ENST00000416721.2_Missense_Mutation_p.A331T O43251 RFOX2_HUMAN RNA binding protein, fox-1 homolog (C. elegans) 2 345 Ala-rich. estrogen receptor signaling pathway|mRNA processing|negative regulation of transcription, DNA-dependent|regulation of cell proliferation|RNA splicing cytoplasm|nucleus nucleotide binding|RNA binding|transcription corepressor activity|transcription factor binding endometrium(4)|large_intestine(7)|lung(7) 18 gcggctgcagcggctgcagca 0.527000 16 78 0 0 1 0 0 ZSCAN22 342945 broad.mit.edu 37 19 58846413 58846413 + Missense_Mutation SNP C C T TCGA-F7-A50J-01A-21D-A28R-08 TCGA-F7-A50J-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77490fcd-b6c5-4542-b0c4-7fe1c73a0e94 e7eccbde-9533-47b0-b735-b0f7a3fdf2b6 g.chr19:58846413C>T ENST00000329665.4 + 2 392 c.245C>T c.(244-246)gCg>gTg p.A82V NM_181846.2 NP_862829.1 P10073 ZSC22_HUMAN zinc finger and SCAN domain containing 22 82 SCAN box. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|pancreas(1)|prostate(2) 16 all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0289) CAGCCCGAGGCGCACTCCAAG 0.667000 5 73 0 0 1 0 0 TAOK2 9344 broad.mit.edu 37 16 29998227 29998227 + Silent SNP G G A TCGA-F7-A50J-01A-21D-A28R-08 TCGA-F7-A50J-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77490fcd-b6c5-4542-b0c4-7fe1c73a0e94 e7eccbde-9533-47b0-b735-b0f7a3fdf2b6 g.chr16:29998227G>A ENST00000308893.4 + 16 3677 c.2634G>A c.(2632-2634)gaG>gaA p.E878E TAOK2_ENST00000279394.3_Intron|TAOK2_ENST00000416441.2_Silent_p.E705E|TAOK2_ENST00000543033.1_Silent_p.E765E NM_001252043.1|NM_016151.3 NP_001238972.1|NP_057235.2 Q9UL54 TAOK2_HUMAN TAO kinase 2 878 Glu-rich. actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus ATP binding|protein serine/threonine kinase activity breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1) 22 AGGAGGATGAGAGTCTTCTGG 0.597000 10 52 0 0 1 0 0 COL19A1 1310 broad.mit.edu 37 6 70812088 70812088 + Missense_Mutation SNP G G A TCGA-F7-A50J-01A-21D-A28R-08 TCGA-F7-A50J-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77490fcd-b6c5-4542-b0c4-7fe1c73a0e94 e7eccbde-9533-47b0-b735-b0f7a3fdf2b6 g.chr6:70812088G>A ENST00000322773.4 + 16 1354 c.1252G>A c.(1252-1254)Gga>Aga p.G418R COL19A1_ENST00000393344.1_Missense_Mutation_p.G40R NM_001858.4 NP_001849.2 Q14993 COJA1_HUMAN collagen, type XIX, alpha 1 418 Triple-helical region 2 (COL2). cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development collagen extracellular matrix structural constituent|protein binding, bridging breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2) 109 AGGACCTCCCGGAAAACCAGG 0.378000 8 79 0 0 1 0 0 C20orf194 25943 broad.mit.edu 37 20 3262362 3262362 + Nonsense_Mutation SNP G G C TCGA-F7-A50J-01A-21D-A28R-08 TCGA-F7-A50J-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77490fcd-b6c5-4542-b0c4-7fe1c73a0e94 e7eccbde-9533-47b0-b735-b0f7a3fdf2b6 g.chr20:3262362G>C ENST00000252032.9 - 28 2604 c.2537C>G c.(2536-2538)tCa>tGa p.S846* C20orf194_ENST00000453730.2_3'UTR NM_001009984.2 NP_001009984.1 Q5TEA3 CT194_HUMAN chromosome 20 open reading frame 194 846 NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(15)|prostate(2)|skin(1) 39 CTTGACATTTGAGTCTGGGTG 0.488000 8 97 0 0 1 0 0 GFPT2 9945 broad.mit.edu 37 5 179743800 179743800 + Silent SNP C C G TCGA-F7-A50J-01A-21D-A28R-08 TCGA-F7-A50J-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77490fcd-b6c5-4542-b0c4-7fe1c73a0e94 e7eccbde-9533-47b0-b735-b0f7a3fdf2b6 g.chr5:179743800C>G ENST00000253778.8 - 12 1285 c.1116G>C c.(1114-1116)gtG>gtC p.V372V GFPT2_ENST00000520165.1_5'UTR NM_005110.2 NP_005101.1 O94808 GFPT2_HUMAN glutamine-fructose-6-phosphate transaminase 2 372 SIS 1. dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process cytosol glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 34 all_cancers(89;4.97e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137) Medulloblastoma(196;0.0392)|all_neural(177;0.0529) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) L-Glutamine(DB00130) CACAGCCAATCACGATGAGCC 0.572000 4 41 0 0 1 0 0 TMED3 23423 broad.mit.edu 37 15 79606257 79606257 + Missense_Mutation SNP C C G TCGA-F7-A50J-01A-21D-A28R-08 TCGA-F7-A50J-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77490fcd-b6c5-4542-b0c4-7fe1c73a0e94 e7eccbde-9533-47b0-b735-b0f7a3fdf2b6 g.chr15:79606257C>G ENST00000299705.5 + 2 515 c.327C>G c.(325-327)ttC>ttG p.F109L TMED3_ENST00000424155.2_Missense_Mutation_p.F109L|TMED3_ENST00000536821.1_Missense_Mutation_p.F109L NM_007364.2 NP_031390.1 Q9Y3Q3 TMED3_HUMAN transmembrane emp24 protein transport domain containing 3 109 GOLD. protein transport ER-Golgi intermediate compartment membrane|Golgi apparatus|integral to membrane large_intestine(3)|lung(4)|ovary(1)|skin(1) 9 TTTCCACCTTCTCTCACAAGA 0.502000 21 86 0 0 1 0 0 OR5M3 219482 broad.mit.edu 37 11 56237209 56237209 + Silent SNP G G A TCGA-F7-A50J-01A-21D-A28R-08 TCGA-F7-A50J-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77490fcd-b6c5-4542-b0c4-7fe1c73a0e94 e7eccbde-9533-47b0-b735-b0f7a3fdf2b6 g.chr11:56237209G>A ENST00000312240.2 - 1 805 c.765C>T c.(763-765)ttC>ttT p.F255F NM_001004742.2 NP_001004742.2 Q8NGP4 OR5M3_HUMAN olfactory receptor, family 5, subfamily M, member 3 255 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.F255L(1) NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(15)|ovary(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 37 Esophageal squamous(21;0.00448) TGAGATACATGAAGATCAGAG 0.493000 6 56 0 0 1 0 0 HTRA4 203100 broad.mit.edu 37 8 38834102 38834102 + Silent SNP C C T TCGA-F7-A50J-01A-21D-A28R-08 TCGA-F7-A50J-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77490fcd-b6c5-4542-b0c4-7fe1c73a0e94 e7eccbde-9533-47b0-b735-b0f7a3fdf2b6 g.chr8:38834102C>T ENST00000302495.4 + 3 715 c.615C>T c.(613-615)ttC>ttT p.F205F NM_153692.3 NP_710159.1 P83105 HTRA4_HUMAN HtrA serine peptidase 4 205 Serine protease. proteolysis|regulation of cell growth extracellular region insulin-like growth factor binding|serine-type endopeptidase activity central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|upper_aerodigestive_tract(1) 11 all_lung(54;0.0344)|Hepatocellular(245;0.0512)|Lung NSC(58;0.0955) LUSC - Lung squamous cell carcinoma(45;1.5e-07) GCTCTGGGTTCATAGTGTCTG 0.507000 9 79 0 0 1 0 0 TMEM31 203562 broad.mit.edu 37 X 102968693 102968693 + Missense_Mutation SNP G G C TCGA-F7-A50J-01A-21D-A28R-08 TCGA-F7-A50J-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77490fcd-b6c5-4542-b0c4-7fe1c73a0e94 e7eccbde-9533-47b0-b735-b0f7a3fdf2b6 g.chrX:102968693G>C ENST00000319560.6 + 3 465 c.274G>C c.(274-276)Gag>Cag p.E92Q GLRA4_ENST00000372617.4_Intron NM_182541.2 NP_872347.2 Q5JXX7 TMM31_HUMAN transmembrane protein 31 92 integral to membrane breast(1)|endometrium(2)|kidney(1)|large_intestine(3) 7 TGCTCTTTTTGAGCTTTATCC 0.453000 28 155 0 0 1 0 0 NRN1L 123904 broad.mit.edu 37 16 67919692 67919692 + Silent SNP C C T TCGA-F7-A50J-01A-21D-A28R-08 TCGA-F7-A50J-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77490fcd-b6c5-4542-b0c4-7fe1c73a0e94 e7eccbde-9533-47b0-b735-b0f7a3fdf2b6 g.chr16:67919692C>T ENST00000339176.3 + 2 246 c.147C>T c.(145-147)ttC>ttT p.F49F CTC-479C5.10_ENST00000572067.1_RNA|NRN1L_ENST00000576147.1_5'UTR NM_198443.1 NP_940845.1 Q496H8 NRN1L_HUMAN neuritin 1-like 49 anchored to membrane|plasma membrane breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2) 7 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.00415)|Epithelial(162;0.0182)|all cancers(182;0.119) ACCAGGGCTTCGCCGAGTGTC 0.652000 17 89 0 0 1 0 0 AHNAK 79026 broad.mit.edu 37 11 62293071 62293071 + Missense_Mutation SNP C C G TCGA-F7-A50J-01A-21D-A28R-08 TCGA-F7-A50J-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77490fcd-b6c5-4542-b0c4-7fe1c73a0e94 e7eccbde-9533-47b0-b735-b0f7a3fdf2b6 g.chr11:62293071C>G ENST00000378024.4 - 5 9092 c.8818G>C c.(8818-8820)Gaa>Caa p.E2940Q AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron NM_001620.1 NP_001611.1 Q09666 AHNK_HUMAN AHNAK nucleoprotein 2940 nervous system development nucleus protein binding NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 268 Melanoma(852;0.155) TCTGGTCCTTCAATGTTAACA 0.502000 56 268 0 0 1 0 0 IWS1 55677 broad.mit.edu 37 2 128263003 128263003 + Missense_Mutation SNP G G C TCGA-F7-A50J-01A-21D-A28R-08 TCGA-F7-A50J-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77490fcd-b6c5-4542-b0c4-7fe1c73a0e94 e7eccbde-9533-47b0-b735-b0f7a3fdf2b6 g.chr2:128263003G>C ENST00000295321.4 - 3 735 c.476C>G c.(475-477)tCt>tGt p.S159C IWS1_ENST00000486662.1_5'UTR|AC010976.2_ENST00000599001.1_RNA|IWS1_ENST00000455721.2_Missense_Mutation_p.S166C NM_017969.2 NP_060439.2 Q96ST2 IWS1_HUMAN IWS1 homolog (S. cerevisiae) 159 Glu-rich. transcription, DNA-dependent nucleus DNA binding cervix(1)|endometrium(2)|kidney(6)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 28 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0735) CTCAATCTCAGAATCACTGGC 0.463000 20 79 0 0 1 0 0 KIF4A 24137 broad.mit.edu 37 X 69622516 69622516 + Missense_Mutation SNP A A G TCGA-F7-A50J-01A-21D-A28R-08 TCGA-F7-A50J-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77490fcd-b6c5-4542-b0c4-7fe1c73a0e94 e7eccbde-9533-47b0-b735-b0f7a3fdf2b6 g.chrX:69622516A>G ENST00000374403.3 + 23 2672 c.2590A>G c.(2590-2592)Aag>Gag p.K864E KIF4A_ENST00000374388.3_Missense_Mutation_p.K864E NM_012310.4 NP_036442.3 O95239 KIF4A_HUMAN kinesin family member 4A 864 Interaction with PRC1. anterograde axon cargo transport|axon guidance|blood coagulation|organelle organization chromosome|cytosol|midbody|nuclear matrix|spindle microtubule ATP binding|DNA binding|microtubule motor activity|protein binding breast(6)|endometrium(9)|kidney(3)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 51 TCTGGAAGCCAAGTGTGCCCT 0.463000 6 24 0 0 1 0 0 CXorf58 254158 broad.mit.edu 37 X 23934385 23934385 + Silent SNP T T C TCGA-F7-A50J-01A-21D-A28R-08 TCGA-F7-A50J-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77490fcd-b6c5-4542-b0c4-7fe1c73a0e94 e7eccbde-9533-47b0-b735-b0f7a3fdf2b6 g.chrX:23934385T>C ENST00000379211.3 + 5 912 c.363T>C c.(361-363)caT>caC p.H121H NM_001169574.1|NM_152761.2 NP_001163045.1|NP_689974.2 Q96LI9 CX058_HUMAN chromosome X open reading frame 58 121 breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(2)|prostate(1) 14 TTTTTCTTCATACTGATGGCC 0.318000 7 19 0 0 1 0 0 ACVR1C 130399 broad.mit.edu 37 2 158397619 158397619 + Missense_Mutation SNP C C T TCGA-F7-A50J-01A-21D-A28R-08 TCGA-F7-A50J-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77490fcd-b6c5-4542-b0c4-7fe1c73a0e94 e7eccbde-9533-47b0-b735-b0f7a3fdf2b6 g.chr2:158397619C>T ENST00000243349.7 - 7 1568 c.1208G>A c.(1207-1209)cGg>cAg p.R403Q ACVR1C_ENST00000335450.7_Missense_Mutation_p.R323Q|ACVR1C_ENST00000409680.3_Missense_Mutation_p.R353Q|ACVR1C_ENST00000348328.5_Missense_Mutation_p.R246Q NM_145259.2 NP_660302.2 Q8NER5 ACV1C_HUMAN activin A receptor, type IC 403 Protein kinase. apoptosis|cell differentiation|regulation of apoptosis activin receptor complex activin receptor activity, type I|ATP binding|transforming growth factor beta receptor activity NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 42 TGAACACCTCCGGGCTATTTC 0.388000 11 72 0 0 1 0 0 UBBP4 23666 broad.mit.edu 37 17 21731144 21731144 + Missense_Mutation SNP T T G rs149119138 by1000genomes TCGA-F7-A50J-01A-21D-A28R-08 TCGA-F7-A50J-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77490fcd-b6c5-4542-b0c4-7fe1c73a0e94 e7eccbde-9533-47b0-b735-b0f7a3fdf2b6 g.chr17:21731144T>G ENST00000584755.1 + 2 843 c.446T>G c.(445-447)cTg>cGg p.L149R UBBP4_ENST00000583708.1_3'UTR|UBBP4_ENST00000584398.1_3'UTR|UBBP4_ENST00000578713.1_Missense_Mutation_p.L149R p.L149R(18) endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4) 24 GTCCTGCGTCTGAGAGGTGGT 0.542000 4 79 0 0 1 0 0 MICALL2 79778 broad.mit.edu 37 7 1498917 1498917 + Missense_Mutation SNP C C G TCGA-F7-A50J-01A-21D-A28R-08 TCGA-F7-A50J-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77490fcd-b6c5-4542-b0c4-7fe1c73a0e94 e7eccbde-9533-47b0-b735-b0f7a3fdf2b6 g.chr7:1498917C>G ENST00000297508.7 - 1 221 c.46G>C c.(46-48)Gag>Cag p.E16Q MICALL2_ENST00000405088.4_Missense_Mutation_p.E16Q NM_182924.3 NP_891554.1 Q8IY33 MILK2_HUMAN MICAL-like 2 16 CH. cytoplasm|cytoskeleton zinc ion binding breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(8)|ovary(2)|skin(2) 19 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;6.01e-15) CGGTAGCCCTCGCACTGCTGC 0.701000 4 22 0 0 1 0 0 TECTA 7007 broad.mit.edu 37 11 120989412 120989412 + Silent SNP C C T TCGA-F7-A50J-01A-21D-A28R-08 TCGA-F7-A50J-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77490fcd-b6c5-4542-b0c4-7fe1c73a0e94 e7eccbde-9533-47b0-b735-b0f7a3fdf2b6 g.chr11:120989412C>T ENST00000392793.1 + 7 1459 c.1188C>T c.(1186-1188)agC>agT p.S396S TECTA_ENST00000264037.2_Silent_p.S396S O75443 TECTA_HUMAN tectorin alpha 396 VWFD 1. cell-matrix adhesion|sensory perception of sound anchored to membrane|plasma membrane|proteinaceous extracellular matrix TECTA/TBCEL(2) NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 135 all_hematologic(175;0.208) Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166) CCAAAGGAAGCTATGGAAGAG 0.522000 23 77 0 0 1 0 0 CRAT 1384 broad.mit.edu 37 9 131870200 131870200 + Missense_Mutation SNP C C G TCGA-F7-A50J-01A-21D-A28R-08 TCGA-F7-A50J-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77490fcd-b6c5-4542-b0c4-7fe1c73a0e94 e7eccbde-9533-47b0-b735-b0f7a3fdf2b6 g.chr9:131870200C>G ENST00000318080.2 - 2 478 c.184G>C c.(184-186)Gag>Cag p.E62Q CRAT_ENST00000393384.3_Missense_Mutation_p.E62Q|CRAT_ENST00000464290.1_5'UTR NM_000755.3|NM_001257363.1 NP_000746.2|NP_001244292.1 P43155 CACP_HUMAN carnitine O-acetyltransferase 62 energy derivation by oxidation of organic compounds|fatty acid beta-oxidation using acyl-CoA oxidase|transport endoplasmic reticulum|mitochondrial inner membrane|peroxisomal matrix carnitine O-acetyltransferase activity central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(2) 13 UCEC - Uterine corpus endometrioid carcinoma (4;0.0178) L-Carnitine(DB00583) TGGGCCCACTCCTCCTCACTC 0.657000 10 74 0 0 1 0 0 KIAA2022 340533 broad.mit.edu 37 X 73960759 73960759 + Silent SNP T T A TCGA-F7-A50J-01A-21D-A28R-08 TCGA-F7-A50J-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77490fcd-b6c5-4542-b0c4-7fe1c73a0e94 e7eccbde-9533-47b0-b735-b0f7a3fdf2b6 g.chrX:73960759T>A ENST00000373468.1 - 3 4284 c.3633A>T c.(3631-3633)ccA>ccT p.P1211P KIAA2022_ENST00000055682.5_Silent_p.P1211P Q5QGS0 K2022_HUMAN KIAA2022 1211 base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle delta DNA polymerase complex 3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3) 109 TTTTGCCAGGTGGTTTTTCAA 0.468000 7 54 0 0 1 0 0 SI 6476 broad.mit.edu 37 3 164748501 164748501 + Splice_Site SNP G G A TCGA-F7-A50J-01A-21D-A28R-08 TCGA-F7-A50J-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77490fcd-b6c5-4542-b0c4-7fe1c73a0e94 e7eccbde-9533-47b0-b735-b0f7a3fdf2b6 g.chr3:164748501G>A ENST00000264382.3 - 25 2953 c.2892_splice c.e25+1 p.T964_splice NM_001041.3 NP_001032.2 P14410 SUIS_HUMAN sucrase-isomaltase (alpha-glucosidase) 964 Isomaltase.|P-type 2. 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) TATTATTACCGTTCTCCATAC 0.299000 HNSCC(35;0.089) 27 44 0 0 1 0 0 ARMCX2 9823 broad.mit.edu 37 X 100911996 100911996 + Silent SNP C C T TCGA-F7-A50J-01A-21D-A28R-08 TCGA-F7-A50J-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77490fcd-b6c5-4542-b0c4-7fe1c73a0e94 e7eccbde-9533-47b0-b735-b0f7a3fdf2b6 g.chrX:100911996C>T ENST00000328766.5 - 5 1032 c.579G>A c.(577-579)gtG>gtA p.V193V ARMCX2_ENST00000356824.4_Silent_p.V193V|ARMCX2_ENST00000330154.2_Silent_p.V193V NM_014782.5 NP_055597.1 Q7L311 ARMX2_HUMAN armadillo repeat containing, X-linked 2 193 Ala-rich. integral to membrane binding NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(6)|prostate(1)|skin(1) 29 GACCCTCGGTCACCTCAGTGG 0.652000 16 63 0 0 1 0 0 DCAF6 55827 broad.mit.edu 37 1 167944229 167944229 + Silent SNP G G A TCGA-F7-A50J-01A-21D-A28R-08 TCGA-F7-A50J-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77490fcd-b6c5-4542-b0c4-7fe1c73a0e94 e7eccbde-9533-47b0-b735-b0f7a3fdf2b6 g.chr1:167944229G>A ENST00000367840.3 + 4 508 c.414G>A c.(412-414)acG>acA p.T138T DCAF6_ENST00000432587.2_Silent_p.T107T|DCAF6_ENST00000367843.3_Silent_p.T138T|DCAF6_ENST00000312263.6_Silent_p.T138T|DCAF6_ENST00000470919.1_3'UTR NM_001198956.1 NP_001185885.1 Q58WW2 DCAF6_HUMAN DDB1 and CUL4 associated factor 6 138 positive regulation of transcription from RNA polymerase II promoter CUL4 RING ubiquitin ligase complex|nucleus ligand-dependent nuclear receptor transcription coactivator activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 36 GCCAATTTACGTGTCATTATG 0.313000 12 64 0 0 1 0 0 OR6N1 128372 broad.mit.edu 37 1 158735784 158735784 + Nonsense_Mutation SNP G G C TCGA-F7-A50J-01A-21D-A28R-08 TCGA-F7-A50J-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77490fcd-b6c5-4542-b0c4-7fe1c73a0e94 e7eccbde-9533-47b0-b735-b0f7a3fdf2b6 g.chr1:158735784G>C ENST00000335094.2 - 1 708 c.689C>G c.(688-690)tCa>tGa p.S230* NM_001005185.1 NP_001005185.1 Q8NGY5 OR6N1_HUMAN olfactory receptor, family 6, subfamily N, member 1 230 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 54 all_hematologic(112;0.0378) GCCGGCAGCTGAGGGAATTCT 0.498000 22 116 0 0 1 0 0 OR51I2 390064 broad.mit.edu 37 11 5474743 5474743 + Missense_Mutation SNP C C G TCGA-F7-A50J-01A-21D-A28R-08 TCGA-F7-A50J-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77490fcd-b6c5-4542-b0c4-7fe1c73a0e94 e7eccbde-9533-47b0-b735-b0f7a3fdf2b6 g.chr11:5474743C>G ENST00000341449.2 + 1 106 c.25C>G c.(25-27)Cct>Gct p.P9A HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA NM_001004754.2 NP_001004754.1 Q9H344 O51I2_HUMAN olfactory receptor, family 51, subfamily I, member 2 9 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) TGTCACTCACCCTGCATTCTT 0.507000 6 68 0 0 1 0 0 STRN4 29888 broad.mit.edu 37 19 47228847 47228847 + Missense_Mutation SNP G G A TCGA-F7-A50J-01A-21D-A28R-08 TCGA-F7-A50J-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77490fcd-b6c5-4542-b0c4-7fe1c73a0e94 e7eccbde-9533-47b0-b735-b0f7a3fdf2b6 g.chr19:47228847G>A ENST00000391910.3 - 10 1778 c.1328C>T c.(1327-1329)tCg>tTg p.S443L STRN4_ENST00000539396.1_Missense_Mutation_p.S317L|STRN4_ENST00000594357.2_5'UTR|STRN4_ENST00000263280.6_Missense_Mutation_p.S436L Q9NRL3 STRN4_HUMAN striatin, calmodulin binding protein 4 436 cytoplasm|membrane armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212) OV - Ovarian serous cystadenocarcinoma(262;0.000563)|all cancers(93;0.00138)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.035) GTCGTAGTGCGAGCGCAGGGT 0.602000 12 69 0 0 1 0 0 ASCC3 10973 broad.mit.edu 37 6 101103624 101103624 + Missense_Mutation SNP C C T TCGA-F7-A50J-01A-21D-A28R-08 TCGA-F7-A50J-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77490fcd-b6c5-4542-b0c4-7fe1c73a0e94 e7eccbde-9533-47b0-b735-b0f7a3fdf2b6 g.chr6:101103624C>T ENST00000369162.2 - 17 3118 c.2774G>A c.(2773-2775)cGg>cAg p.R925Q NM_006828.2 NP_006819.2 Q8N3C0 HELC1_HUMAN activating signal cointegrator 1 complex subunit 3 925 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|microtubule cytoskeleton ATP binding|ATP-dependent helicase activity|nucleic acid binding breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 92 all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13) BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199) TGCTCTCATCCGTACATAAAG 0.338000 7 65 0 0 1 0 0 GPR112 139378 broad.mit.edu 37 X 135455200 135455200 + Missense_Mutation SNP T T G rs145241863 TCGA-F7-A50J-01A-21D-A28R-08 TCGA-F7-A50J-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77490fcd-b6c5-4542-b0c4-7fe1c73a0e94 e7eccbde-9533-47b0-b735-b0f7a3fdf2b6 g.chrX:135455200T>G ENST00000394143.1 + 15 8044 c.7753T>G c.(7753-7755)Tat>Gat p.Y2585D GPR112_ENST00000412101.1_Missense_Mutation_p.Y2380D|GPR112_ENST00000394141.1_Missense_Mutation_p.Y2380D|GPR112_ENST00000370652.1_Missense_Mutation_p.Y2585D|GPR112_ENST00000287534.4_Missense_Mutation_p.Y2383D NM_153834.3 NP_722576.3 Q8IZF6 GP112_HUMAN G protein-coupled receptor 112 2585 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2) 199 Acute lymphoblastic leukemia(192;0.000127) CATTCACTCCTATGAAGAAGG 0.537000 29 302 0 0 1 0 0 ZNF574 64763 broad.mit.edu 37 19 42584120 42584120 + Silent SNP G G A TCGA-F7-A50J-01A-21D-A28R-08 TCGA-F7-A50J-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77490fcd-b6c5-4542-b0c4-7fe1c73a0e94 e7eccbde-9533-47b0-b735-b0f7a3fdf2b6 g.chr19:42584120G>A ENST00000600245.1 + 2 2017 c.1362G>A c.(1360-1362)gaG>gaA p.E454E CTB-59C6.3_ENST00000594531.1_RNA|ZNF574_ENST00000222339.7_Silent_p.E544E|ZNF574_ENST00000359044.4_Silent_p.E454E Q6ZN55 ZN574_HUMAN zinc finger protein 574 454 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 20 Prostate(69;0.059) CTGTGTCTGAGGAGACCTCAG 0.632000 10 93 0 0 1 0 0 ZNF491 126069 broad.mit.edu 37 19 11917869 11917869 + Silent SNP C C G TCGA-F7-A50J-01A-21D-A28R-08 TCGA-F7-A50J-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77490fcd-b6c5-4542-b0c4-7fe1c73a0e94 e7eccbde-9533-47b0-b735-b0f7a3fdf2b6 g.chr19:11917869C>G ENST00000323169.5 + 3 1432 c.1101C>G c.(1099-1101)gtC>gtG p.V367V ZNF491_ENST00000492230.1_Intron NM_152356.3 NP_689569.2 Q8N8L2 ZN491_HUMAN zinc finger protein 491 367 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(14)|lung(6)|ovary(2)|skin(1) 26 TTCATTGTGTCAGCTCCTTTC 0.403000 10 56 0 0 1 0 0 GPR112 139378 broad.mit.edu 37 X 135455215 135455215 + Missense_Mutation SNP G G C TCGA-F7-A50J-01A-21D-A28R-08 TCGA-F7-A50J-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77490fcd-b6c5-4542-b0c4-7fe1c73a0e94 e7eccbde-9533-47b0-b735-b0f7a3fdf2b6 g.chrX:135455215G>C ENST00000394143.1 + 15 8059 c.7768G>C c.(7768-7770)Gac>Cac p.D2590H GPR112_ENST00000412101.1_Missense_Mutation_p.D2385H|GPR112_ENST00000394141.1_Missense_Mutation_p.D2385H|GPR112_ENST00000370652.1_Missense_Mutation_p.D2590H|GPR112_ENST00000287534.4_Missense_Mutation_p.D2388H NM_153834.3 NP_722576.3 Q8IZF6 GP112_HUMAN G protein-coupled receptor 112 2590 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2) 199 Acute lymphoblastic leukemia(192;0.000127) AGAAGGCACAGACCCTGAGGT 0.552000 27 270 0 0 1 0 0 TYW1B 441250 broad.mit.edu 37 7 72277669 72277669 + RNA SNP C C G TCGA-F7-A50J-01A-21D-A28R-08 TCGA-F7-A50J-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77490fcd-b6c5-4542-b0c4-7fe1c73a0e94 e7eccbde-9533-47b0-b735-b0f7a3fdf2b6 g.chr7:72277669C>G ENST00000438125.1 - 0 336 Q6NUM6 TYW1B_HUMAN tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae) tRNA processing 4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity CTTGGTGTCTCTGTGATGCAA 0.512000 6 27 0 0 1 0 0 GFRAL 389400 broad.mit.edu 37 6 55216136 55216136 + Silent SNP T T G TCGA-F7-A50J-01A-21D-A28R-08 TCGA-F7-A50J-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77490fcd-b6c5-4542-b0c4-7fe1c73a0e94 e7eccbde-9533-47b0-b735-b0f7a3fdf2b6 g.chr6:55216136T>G ENST00000340465.2 + 5 542 c.456T>G c.(454-456)ctT>ctG p.L152L NM_207410.2 NP_997293.2 Q6UXV0 GFRAL_HUMAN GDNF family receptor alpha like 152 integral to membrane receptor activity NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 48 Lung NSC(77;0.0875)|Renal(3;0.122) LUSC - Lung squamous cell carcinoma(124;0.23) CCTCTTACCTTAAAGCTTGCT 0.443000 8 174 0 0 1 0 0 RASGEF1A 221002 broad.mit.edu 37 10 43692470 43692470 + Missense_Mutation SNP C C G TCGA-F7-A50J-01A-21D-A28R-08 TCGA-F7-A50J-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77490fcd-b6c5-4542-b0c4-7fe1c73a0e94 e7eccbde-9533-47b0-b735-b0f7a3fdf2b6 g.chr10:43692470C>G ENST00000395809.1 - 11 3808 c.1302G>C c.(1300-1302)aaG>aaC p.K434N RASGEF1A_ENST00000395810.1_Missense_Mutation_p.K434N|RASGEF1A_ENST00000374459.1_Missense_Mutation_p.K442N Q8N9B8 RGF1A_HUMAN RasGEF domain family, member 1A 434 Ras-GEF. cell migration|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction intracellular Ras guanyl-nucleotide exchange factor activity cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(2) 11 TCTGAATCTTCTTGTCCTTCT 0.537000 12 37 0 0 1 0 0 ZNF804A 91752 broad.mit.edu 37 2 185800792 185800792 + Silent SNP C C T rs148931756 byFrequency TCGA-F7-A50J-01A-21D-A28R-08 TCGA-F7-A50J-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77490fcd-b6c5-4542-b0c4-7fe1c73a0e94 e7eccbde-9533-47b0-b735-b0f7a3fdf2b6 g.chr2:185800792C>T ENST00000302277.6 + 4 1263 c.669C>T c.(667-669)tcC>tcT p.S223S NM_194250.1 NP_919226.1 Q7Z570 Z804A_HUMAN zinc finger protein 804A 223 intracellular zinc ion binding NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1) 146 AGAAAGCGTCCGTGAAGCTAG 0.428000 12 49 0 0 1 0 0 NUFIP1 26747 broad.mit.edu 37 13 45533706 45533706 + Missense_Mutation SNP C C G TCGA-F7-A50J-01A-21D-A28R-08 TCGA-F7-A50J-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77490fcd-b6c5-4542-b0c4-7fe1c73a0e94 e7eccbde-9533-47b0-b735-b0f7a3fdf2b6 g.chr13:45533706C>G ENST00000379161.4 - 7 877 c.831G>C c.(829-831)aaG>aaC p.K277N NM_012345.2 NP_036477.2 Q9UHK0 NUFP1_HUMAN nuclear fragile X mental retardation protein interacting protein 1 277 box C/D snoRNP assembly|positive regulation of transcription from RNA polymerase II promoter|RNA processing actin cytoskeleton|cytosolic ribosome|nuclear matrix|nucleolus|perichromatin fibrils|pre-snoRNP complex|presynaptic active zone|transcription elongation factor complex DNA binding|identical protein binding|protein binding, bridging|RNA binding|zinc ion binding breast(2)|cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(4)|skin(3) 18 Lung NSC(96;8.23e-05)|Breast(139;0.00378)|Prostate(109;0.0107)|all_hematologic(4;0.014)|Lung SC(185;0.0262)|Hepatocellular(98;0.0524)|Acute lymphoblastic leukemia(4;0.143) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;0.000306)|BRCA - Breast invasive adenocarcinoma(63;0.125) TCCCCTTCATCTTGCTGGAGT 0.368000 14 104 0 0 1 0 0 OR4D5 219875 broad.mit.edu 37 11 123811135 123811135 + Missense_Mutation SNP T T A TCGA-F7-A50J-01A-21D-A28R-08 TCGA-F7-A50J-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77490fcd-b6c5-4542-b0c4-7fe1c73a0e94 e7eccbde-9533-47b0-b735-b0f7a3fdf2b6 g.chr11:123811135T>A ENST00000307033.2 + 1 886 c.812T>A c.(811-813)gTc>gAc p.V271D NM_001001965.1 NP_001001965.1 Q8NGN0 OR4D5_HUMAN olfactory receptor, family 4, subfamily D, member 5 271 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 41 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399) GACAAGGCCGTCTCTGTGCTA 0.493000 20 128 0 0 1 0 0 ALG9 79796 broad.mit.edu 37 11 111749772 111749772 + Missense_Mutation SNP G G C TCGA-F7-A50J-01A-21D-A28R-08 TCGA-F7-A50J-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77490fcd-b6c5-4542-b0c4-7fe1c73a0e94 e7eccbde-9533-47b0-b735-b0f7a3fdf2b6 g.chr11:111749772G>C ENST00000524880.1 - 1 377 c.85C>G c.(85-87)Caa>Gaa p.Q29E FDXACB1_ENST00000542429.1_5'UTR|C11orf1_ENST00000528125.1_Intron|FDXACB1_ENST00000260257.4_Missense_Mutation_p.Q29E Q9H6U8 ALG9_HUMAN ALG9, alpha-1,2-mannosyltransferase 329 dolichol-linked oligosaccharide biosynthetic process|GPI anchor biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine integral to membrane|intrinsic to endoplasmic reticulum membrane alpha-1,2-mannosyltransferase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 16 all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425) Epithelial(105;6.81e-07)|BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|all cancers(92;1.3e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0587) GCGGTAAGTTGAGTGCTCTGA 0.672000 OREG0021330 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 6 36 0 0 1 0 0 MPHOSPH9 10198 broad.mit.edu 37 12 123694622 123694622 + Missense_Mutation SNP G G T TCGA-F7-A50J-01A-21D-A28R-08 TCGA-F7-A50J-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77490fcd-b6c5-4542-b0c4-7fe1c73a0e94 e7eccbde-9533-47b0-b735-b0f7a3fdf2b6 g.chr12:123694622G>T ENST00000606320.1 - 8 1381 c.1175C>A c.(1174-1176)aCa>aAa p.T392K MPHOSPH9_ENST00000392425.3_Missense_Mutation_p.T240K|MPHOSPH9_ENST00000541076.2_Missense_Mutation_p.T362K|MPHOSPH9_ENST00000302349.5_Missense_Mutation_p.T240K Q99550 MPP9_HUMAN M-phase phosphoprotein 9 240 M phase of mitotic cell cycle centriole|Golgi membrane NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(18)|prostate(2)|skin(1) 33 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000182)|Epithelial(86;0.00046)|BRCA - Breast invasive adenocarcinoma(302;0.169) TGACACATCTGTGGAAGACAA 0.493000 19 62 6.94344e-10 7.48922e-10 1 1 0 RB1 5925 broad.mit.edu 37 13 48936965 48936965 + Missense_Mutation SNP C C G TCGA-F7-A50J-01A-21D-A28R-08 TCGA-F7-A50J-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77490fcd-b6c5-4542-b0c4-7fe1c73a0e94 e7eccbde-9533-47b0-b735-b0f7a3fdf2b6 g.chr13:48936965C>G ENST00000267163.4 + 8 871 c.733C>G c.(733-735)Ccc>Gcc p.P245A NM_000321.2 NP_000312.2 P06400 RB_HUMAN retinoblastoma 1 245 androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation chromatin|PML body|Rb-E2F complex|SWI/SNF complex androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding p.0?(15)|p.?(6) NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31) 496 all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301) GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) AGCTGTTATACCCATTAATGG 0.343000 6 """D, Mis, N, F, S""" """retinoblastoma, sarcoma, breast, small cell lung""" """retinoblastoma, sarcoma, breast, small cell lung""" Hereditary Retinoblastoma TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080) 6 58 0 0 1 0 0 CCDC97 90324 broad.mit.edu 37 19 41828539 41828539 + Silent SNP C C T TCGA-F7-A50J-01A-21D-A28R-08 TCGA-F7-A50J-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77490fcd-b6c5-4542-b0c4-7fe1c73a0e94 e7eccbde-9533-47b0-b735-b0f7a3fdf2b6 g.chr19:41828539C>T ENST00000269967.3 + 5 1073 c.951C>T c.(949-951)atC>atT p.I317I NM_052848.1 NP_443080.1 Q96F63 CCD97_HUMAN coiled-coil domain containing 97 317 biliary_tract(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6) 17 ACCTCGACATCGTGGCACGGG 0.617000 17 122 0 0 1 0 0 AIFM3 150209 broad.mit.edu 37 22 21331013 21331013 + Silent SNP C C T TCGA-F7-A50J-01A-21D-A28R-08 TCGA-F7-A50J-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77490fcd-b6c5-4542-b0c4-7fe1c73a0e94 e7eccbde-9533-47b0-b735-b0f7a3fdf2b6 g.chr22:21331013C>T ENST00000399167.2 + 12 1344 c.1104C>T c.(1102-1104)ttC>ttT p.F368F AIFM3_ENST00000399163.2_Silent_p.F368F|AIFM3_ENST00000335375.5_Silent_p.F356F|AIFM3_ENST00000405089.1_Silent_p.F374F|AIFM3_ENST00000440238.2_Silent_p.F368F|AIFM3_ENST00000333607.6_Silent_p.F368F|AIFM3_ENST00000465606.1_3'UTR NM_144704.2 NP_653305.1 apoptosis-inducing factor, mitochondrion-associated, 3 breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1) 21 all_cancers(11;3.71e-26)|all_epithelial(7;1.59e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142) Lung SC(17;0.0367) LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195) AGACGCCCTTCAGGAGGTTCC 0.692000 5 13 0 0 1 0 0 DDX17 10521 broad.mit.edu 37 22 38881948 38881948 + Missense_Mutation SNP G G A TCGA-F7-A50J-01A-21D-A28R-08 TCGA-F7-A50J-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77490fcd-b6c5-4542-b0c4-7fe1c73a0e94 e7eccbde-9533-47b0-b735-b0f7a3fdf2b6 g.chr22:38881948G>A ENST00000396821.3 - 13 2287 c.2188C>T c.(2188-2190)Cgt>Tgt p.R730C DDX17_ENST00000381633.3_Missense_Mutation_p.R651C|DDX17_ENST00000444597.1_Missense_Mutation_p.R180C NM_001098504.1|NM_006386.4 NP_001091974.1|NP_006377.2 Q92841 DDX17_HUMAN DEAD (Asp-Glu-Ala-Asp) box helicase 17 649 RNA processing nucleus ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity|RNA-dependent ATPase activity breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 25 Melanoma(58;0.0286) TTTCATTTACGTGAaggagga 0.453000 13 61 0 0 1 0 0 IRS4 8471 broad.mit.edu 37 X 107979424 107979424 + Missense_Mutation SNP G G A TCGA-F7-A50J-01A-21D-A28R-08 TCGA-F7-A50J-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77490fcd-b6c5-4542-b0c4-7fe1c73a0e94 e7eccbde-9533-47b0-b735-b0f7a3fdf2b6 g.chrX:107979424G>A ENST00000372129.2 - 1 227 c.151C>T c.(151-153)Ccg>Tcg p.P51S NM_003604.2 NP_003595.1 O14654 IRS4_HUMAN insulin receptor substrate 4 51 plasma membrane insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1) 78 ATGGCTCCCGGACAAGACGAC 0.667000 13 124 0 0 1 0 0 EML3 256364 broad.mit.edu 37 11 62376895 62376895 + Missense_Mutation SNP G G A TCGA-F7-A50J-01A-21D-A28R-08 TCGA-F7-A50J-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77490fcd-b6c5-4542-b0c4-7fe1c73a0e94 e7eccbde-9533-47b0-b735-b0f7a3fdf2b6 g.chr11:62376895G>A ENST00000394773.2 - 6 996 c.689C>T c.(688-690)cCg>cTg p.P230L EML3_ENST00000531557.1_Missense_Mutation_p.P13L|EML3_ENST00000529309.1_Missense_Mutation_p.P230L|EML3_ENST00000278845.4_Missense_Mutation_p.P231L|EML3_ENST00000494176.2_Missense_Mutation_p.P202L NM_153265.2 NP_694997.2 Q32P44 EMAL3_HUMAN echinoderm microtubule associated protein like 3 230 cytoplasm|microtubule protein binding biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 26 GATGCCAGACGGGATGTACAT 0.582000 38 176 0 0 1 0 0 ZNF343 79175 broad.mit.edu 37 20 2464242 2464242 + Silent SNP G G A TCGA-F7-A50J-01A-21D-A28R-08 TCGA-F7-A50J-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77490fcd-b6c5-4542-b0c4-7fe1c73a0e94 e7eccbde-9533-47b0-b735-b0f7a3fdf2b6 g.chr20:2464242G>A ENST00000278772.4 - 6 1852 c.1365C>T c.(1363-1365)caC>caT p.H455H RP4-734P14.4_ENST00000461548.1_Intron NM_024325.4 NP_077301.4 Q6P1L6 ZN343_HUMAN zinc finger protein 343 455 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|skin(4)|upper_aerodigestive_tract(1) 25 GCGTCCGCTCGTGTATGATGA 0.522000 8 102 0 0 1 0 0 OTOP1 133060 broad.mit.edu 37 4 4199751 4199751 + Silent SNP G G A TCGA-F7-A50J-01A-21D-A28R-08 TCGA-F7-A50J-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77490fcd-b6c5-4542-b0c4-7fe1c73a0e94 e7eccbde-9533-47b0-b735-b0f7a3fdf2b6 g.chr4:4199751G>A ENST00000296358.4 - 5 834 c.810C>T c.(808-810)ctC>ctT p.L270L NM_177998.1 NP_819056.1 Q7RTM1 OTOP1_HUMAN otopetrin 1 270 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) TGAAGGGGTAGAGGTAGTAGA 0.527000 6 82 0 0 1 0 0 IDS 3423 broad.mit.edu 37 X 148586584 148586584 + Silent SNP C C T TCGA-F7-A50J-01A-21D-A28R-08 TCGA-F7-A50J-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77490fcd-b6c5-4542-b0c4-7fe1c73a0e94 e7eccbde-9533-47b0-b735-b0f7a3fdf2b6 g.chrX:148586584C>T ENST00000340855.6 - 1 293 c.84G>A c.(82-84)acG>acA p.T28T AF011889.5_ENST00000422081.1_RNA|IDS_ENST00000428056.2_Silent_p.T28T|IDS_ENST00000370441.4_Silent_p.T28T|IDS_ENST00000370443.4_Silent_p.T28T|IDS_ENST00000541269.1_Intron NM_000202.5|NM_001166550.1 NP_000193.1|NP_001160022.1 P22304 IDS_HUMAN iduronate 2-sulfatase 28 lysosome iduronate-2-sulfatase activity|metal ion binding NS(1)|breast(3)|endometrium(5)|large_intestine(2)|lung(8)|prostate(1) 20 Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662) AGTTGGCCTGCGTTTCGGATC 0.647000 7 103 0 0 1 0 0 DNAH6 1768 broad.mit.edu 37 2 84777021 84777021 + Missense_Mutation SNP G G A rs145235960 TCGA-F7-A50J-01A-21D-A28R-08 TCGA-F7-A50J-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77490fcd-b6c5-4542-b0c4-7fe1c73a0e94 e7eccbde-9533-47b0-b735-b0f7a3fdf2b6 g.chr2:84777021G>A ENST00000389394.3 + 9 1462 c.1325G>A c.(1324-1326)cGt>cAt p.R442H DNAH6_ENST00000237449.6_Missense_Mutation_p.R442H|DNAH6_ENST00000398278.2_Missense_Mutation_p.R442H NM_001370.1 NP_001361.1 Q9C0G6 DYH6_HUMAN dynein, axonemal, heavy chain 6 442 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity NS(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 57 AGCTTTATTCGTCTAAACGAC 0.303000 8 23 0 0 1 0 0 TRGC1 6966 broad.mit.edu 37 7 38305189 38305189 + RNA SNP A A G TCGA-F7-A50J-01A-21D-A28R-08 TCGA-F7-A50J-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77490fcd-b6c5-4542-b0c4-7fe1c73a0e94 e7eccbde-9533-47b0-b735-b0f7a3fdf2b6 g.chr7:38305189A>G ENST00000443402.2 - 0 90 NM_001003799.1|NM_001003806.1 NP_001003799.1|NP_001003806.1 AAGAAGACAAAGGTATGTTCC 0.423000 23 137 0 0 1 0 0 ZMYM3 9203 broad.mit.edu 37 X 70467620 70467620 + Missense_Mutation SNP C C A TCGA-F7-A50J-01A-21D-A28R-08 TCGA-F7-A50J-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77490fcd-b6c5-4542-b0c4-7fe1c73a0e94 e7eccbde-9533-47b0-b735-b0f7a3fdf2b6 g.chrX:70467620C>A ENST00000373998.1 - 12 2809 c.2112G>T c.(2110-2112)gaG>gaT p.E704D ZMYM3_ENST00000353904.2_Missense_Mutation_p.E704D|ZMYM3_ENST00000373984.3_Missense_Mutation_p.E706D|ZMYM3_ENST00000373988.1_Missense_Mutation_p.E706D|ZMYM3_ENST00000314425.5_Missense_Mutation_p.E704D|ZMYM3_ENST00000489332.1_5'UTR NM_001171162.1 NP_001164633.1 Q14202 ZMYM3_HUMAN zinc finger, MYM-type 3 704 multicellular organismal development nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 Renal(35;0.156) TCTTACAGTCCTCACTGCAGA 0.592000 19 54 3.99206e-14 4.363e-14 1 1 0 BCAP31 10134 broad.mit.edu 37 X 152967530 152967530 + Missense_Mutation SNP T T A TCGA-F7-A50J-01A-21D-A28R-08 TCGA-F7-A50J-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77490fcd-b6c5-4542-b0c4-7fe1c73a0e94 e7eccbde-9533-47b0-b735-b0f7a3fdf2b6 g.chrX:152967530T>A ENST00000458587.2 - 7 1264 c.835A>T c.(835-837)Atg>Ttg p.M279L BCAP31_ENST00000345046.6_Missense_Mutation_p.M212L|BCAP31_ENST00000441714.1_Missense_Mutation_p.M212L|BCAP31_ENST00000477175.1_Intron NM_001139441.1|NM_001139457.2 NP_001132913.1|NP_001132929.1 P51572 BAP31_HUMAN B-cell receptor-associated protein 31 212 cellular component disassembly involved in apoptosis|immune response|intracellular protein transport|vesicle-mediated transport cytosol|endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|integral to plasma membrane receptor binding endometrium(2)|large_intestine(2)|lung(2)|prostate(1) 7 all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) TGCTTCCGCATGGCCAGAACC 0.522000 13 40 0 0 1 0 0 DSEL 92126 broad.mit.edu 37 18 65179810 65179810 + Missense_Mutation SNP G G A TCGA-F7-A50J-01A-21D-A28R-08 TCGA-F7-A50J-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77490fcd-b6c5-4542-b0c4-7fe1c73a0e94 e7eccbde-9533-47b0-b735-b0f7a3fdf2b6 g.chr18:65179810G>A ENST00000310045.7 - 2 3539 c.2066C>T c.(2065-2067)gCa>gTa p.A689V CTD-2541J13.2_ENST00000583493.1_RNA NM_032160.2 NP_115536.1 Q8IZU8 DSEL_HUMAN dermatan sulfate epimerase-like 679 integral to membrane isomerase activity|sulfotransferase activity NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 74 Esophageal squamous(42;0.129) AAAGACATATGCAATTCTTGT 0.368000 6 30 0 0 1 0 0 F8 2157 broad.mit.edu 37 X 154185290 154185290 + Missense_Mutation SNP C C G TCGA-F7-A50J-01A-21D-A28R-08 TCGA-F7-A50J-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77490fcd-b6c5-4542-b0c4-7fe1c73a0e94 e7eccbde-9533-47b0-b735-b0f7a3fdf2b6 g.chrX:154185290C>G ENST00000360256.4 - 11 1894 c.1694G>C c.(1693-1695)gGa>gCa p.G565A NM_000132.3 NP_000123.1 P00451 FA8_HUMAN coagulation factor VIII, procoagulant component 565 F5/8 type A 2.|Plastocyanin-like 3. acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation extracellular space|plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity|protein binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2) 120 all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055) GCCAATGAGTCCTGAAGCTAG 0.463000 25 191 0 0 1 0 0 NPY4R 5540 broad.mit.edu 37 10 47087415 47087415 + Missense_Mutation SNP G G A rs147108354 TCGA-F7-A50J-01A-21D-A28R-08 TCGA-F7-A50J-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77490fcd-b6c5-4542-b0c4-7fe1c73a0e94 e7eccbde-9533-47b0-b735-b0f7a3fdf2b6 g.chr10:47087415G>A ENST00000374312.1 + 3 1051 c.632G>A c.(631-633)cGc>cAc p.R211H NPY4R_ENST00000395716.1_Missense_Mutation_p.R211H NM_005972.4 NP_005963.3 neuropeptide Y receptor Y4 GCTCACCACCGCACCATCTAC 0.582000 9 147 0 0 1 0 0 PCDHA3 56145 broad.mit.edu 37 5 140182628 140182628 + Missense_Mutation SNP G G A rs142788061 TCGA-F7-A50J-01A-21D-A28R-08 TCGA-F7-A50J-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77490fcd-b6c5-4542-b0c4-7fe1c73a0e94 e7eccbde-9533-47b0-b735-b0f7a3fdf2b6 g.chr5:140182628G>A ENST00000522353.2 + 1 1846 c.1846G>A c.(1846-1848)Ggc>Agc p.G616S PCDHA3_ENST00000532566.2_Missense_Mutation_p.G616S|PCDHA2_ENST00000520672.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron NM_018906.2 NP_061729.1 NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1) 95 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCCTGGGACCGGCGGTGCGCG 0.677000 22 98 0 0 1 0 0 OTUD7A 161725 broad.mit.edu 37 15 31818596 31818596 + Silent SNP G G A TCGA-F7-A50J-01A-21D-A28R-08 TCGA-F7-A50J-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77490fcd-b6c5-4542-b0c4-7fe1c73a0e94 e7eccbde-9533-47b0-b735-b0f7a3fdf2b6 g.chr15:31818596G>A ENST00000382902.1 - 6 941 c.849C>T c.(847-849)agC>agT p.S283S OTUD7A_ENST00000307050.4_Silent_p.S276S Q8TE49 OTU7A_HUMAN OTU domain containing 7A 276 Catalytic (By similarity).|OTU.|TRAF-binding (By similarity). cytoplasm|nucleus cysteine-type peptidase activity|DNA binding|zinc ion binding endometrium(7)|large_intestine(4)|lung(11)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(4) 30 all_lung(180;1.6e-09) all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208) TGCGCGGCTCGCTGGAGGCCA 0.677000 4 9 0 0 1 0 0 TET3 200424 broad.mit.edu 37 2 74273738 74273738 + Missense_Mutation SNP G G T TCGA-F7-A50J-01A-21D-A28R-08 TCGA-F7-A50J-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77490fcd-b6c5-4542-b0c4-7fe1c73a0e94 e7eccbde-9533-47b0-b735-b0f7a3fdf2b6 g.chr2:74273738G>T ENST00000409262.3 + 1 289 c.289G>T c.(289-291)Gct>Tct p.A97S NM_144993.1 NP_659430.1 O43151 TET3_HUMAN tet methylcytosine dioxygenase 3 97 metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 GAGTCGTGAGGCTGGGAACAA 0.637000 5 48 0.014758 0.0149394 1 1 0 ARHGEF1 9138 broad.mit.edu 37 19 42406962 42406962 + Missense_Mutation SNP G G A TCGA-F7-A50J-01A-21D-A28R-08 TCGA-F7-A50J-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77490fcd-b6c5-4542-b0c4-7fe1c73a0e94 e7eccbde-9533-47b0-b735-b0f7a3fdf2b6 g.chr19:42406962G>A ENST00000599846.1 + 19 1945 c.1820G>A c.(1819-1821)cGc>cAc p.R607H ARHGEF1_ENST00000378152.4_Missense_Mutation_p.R533H|ARHGEF1_ENST00000337665.4_Missense_Mutation_p.R566H|ARHGEF1_ENST00000354532.3_Missense_Mutation_p.R551H|ARHGEF1_ENST00000347545.4_Missense_Mutation_p.R518H Q92888 ARHG1_HUMAN Rho guanine nucleotide exchange factor (GEF) 1 551 cell proliferation|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis|regulation of Rho protein signal transduction|Rho protein signal transduction cytosol|plasma membrane GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity breast(2)|endometrium(8)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425) Epithelial(262;5.89e-46)|GBM - Glioblastoma multiforme(1328;2.49e-12)|STAD - Stomach adenocarcinoma(1328;0.00644) CGGTGCCGCCGCCTGCAGCTG 0.667000 27 99 0 0 1 0 0 THOC2 57187 broad.mit.edu 37 X 122757984 122757984 + Missense_Mutation SNP C C T TCGA-F7-A50J-01A-21D-A28R-08 TCGA-F7-A50J-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77490fcd-b6c5-4542-b0c4-7fe1c73a0e94 e7eccbde-9533-47b0-b735-b0f7a3fdf2b6 g.chrX:122757984C>T ENST00000245838.8 - 27 3276 c.3245G>A c.(3244-3246)gGa>gAa p.G1082E THOC2_ENST00000355725.4_Missense_Mutation_p.G1082E|THOC2_ENST00000491737.1_Missense_Mutation_p.G967E NM_001081550.1 NP_001075019.1 Q8NI27 THOC2_HUMAN THO complex 2 1082 intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing THO complex part of transcription export complex protein binding|RNA binding breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3) 63 AGCCTTATTTCCACCATCAAA 0.313000 4 62 0 0 1 0 0 TMED8 283578 broad.mit.edu 37 14 77818038 77818038 + Missense_Mutation SNP C C T TCGA-F7-A50J-01A-21D-A28R-08 TCGA-F7-A50J-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77490fcd-b6c5-4542-b0c4-7fe1c73a0e94 e7eccbde-9533-47b0-b735-b0f7a3fdf2b6 g.chr14:77818038C>T ENST00000216468.7 - 2 230 c.175G>A c.(175-177)Gaa>Aaa p.E59K NM_213601.1 NP_998766.1 Q6PL24 TMED8_HUMAN transmembrane emp24 protein transport domain containing 8 59 transport integral to membrane breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4) 15 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0281) GAGCAGGGTTCTGGATCGGTG 0.408000 16 96 0 0 1 0 0 PAPD7 11044 broad.mit.edu 37 5 6750447 6750447 + Missense_Mutation SNP G G A TCGA-F7-A50J-01A-21D-A28R-08 TCGA-F7-A50J-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77490fcd-b6c5-4542-b0c4-7fe1c73a0e94 e7eccbde-9533-47b0-b735-b0f7a3fdf2b6 g.chr5:6750447G>A ENST00000230859.6 + 10 1070 c.941G>A c.(940-942)aGc>aAc p.S314N NM_001171805.1|NM_001171806.1|NM_006999.4 NP_001165276.1|NP_001165277.1|NP_008930.1 Q5XG87 PAPD7_HUMAN PAP associated domain containing 7 314 cell division|DNA replication|double-strand break repair|mitotic chromosome condensation|response to drug|sister chromatid cohesion nucleus DNA binding|DNA-directed DNA polymerase activity|metal ion binding|SMC protein binding cervix(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 27 TCCACAGACAGCAGGATCAAG 0.587000 21 78 0 0 1 0 0 TRAJ12 28743 broad.mit.edu 37 14 23000917 23000917 + RNA SNP C C T TCGA-F7-A50J-01A-21D-A28R-08 TCGA-F7-A50J-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77490fcd-b6c5-4542-b0c4-7fe1c73a0e94 e7eccbde-9533-47b0-b735-b0f7a3fdf2b6 g.chr14:23000917C>T ENST00000390525.1 + 0 29 AATTGATCTTCGGGAGTGGGA 0.443000 6 101 0 0 1 0 0 MYO18B 84700 broad.mit.edu 37 22 26270302 26270302 + Missense_Mutation SNP A A C TCGA-F7-A50J-01A-21D-A28R-08 TCGA-F7-A50J-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77490fcd-b6c5-4542-b0c4-7fe1c73a0e94 e7eccbde-9533-47b0-b735-b0f7a3fdf2b6 g.chr22:26270302A>C ENST00000335473.7 + 23 4251 c.4001A>C c.(4000-4002)aAg>aCg p.K1334T MYO18B_ENST00000407587.2_Missense_Mutation_p.K1335T|MYO18B_ENST00000536101.1_Missense_Mutation_p.K1334T NM_032608.5 NP_115997.5 Q8IUG5 MY18B_HUMAN myosin XVIIIB 1334 nucleus|sarcomere|unconventional myosin complex actin binding|ATP binding|motor activity NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 146 CAGCGAGAGAAGCTGGTATCT 0.532000 21 45 0 0 1 0 0 PPAP2C 8612 broad.mit.edu 37 19 288131 288131 + Silent SNP C C T rs139859911 TCGA-F7-A50J-01A-21D-A28R-08 TCGA-F7-A50J-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77490fcd-b6c5-4542-b0c4-7fe1c73a0e94 e7eccbde-9533-47b0-b735-b0f7a3fdf2b6 g.chr19:288131C>T ENST00000269812.3 - 2 142 c.93G>A c.(91-93)ccG>ccA p.P31P PPAP2C_ENST00000434325.2_5'UTR|PPAP2C_ENST00000327790.3_Silent_p.P52P NM_003712.2|NM_177526.1 NP_003703.1|NP_803545.1 O43688 LPP2_HUMAN phosphatidic acid phosphatase type 2C 31 sphingolipid metabolic process integral to membrane|plasma membrane phosphatidate phosphatase activity|phosphoprotein phosphatase activity|sphingosine-1-phosphate phosphatase activity breast(1)|central_nervous_system(1)|endometrium(1)|lung(1)|skin(1) 5 all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CTCGCTTGTACGGGGCGTTCA 0.622000 47 67 0 0 1 0 0 NEB 4703 broad.mit.edu 37 2 152580789 152580789 + Silent SNP G G A TCGA-F7-A50J-01A-21D-A28R-08 TCGA-F7-A50J-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77490fcd-b6c5-4542-b0c4-7fe1c73a0e94 e7eccbde-9533-47b0-b735-b0f7a3fdf2b6 g.chr2:152580789G>A ENST00000427231.2 - 8 799 c.597C>T c.(595-597)acC>acT p.T199T NEB_ENST00000172853.10_Silent_p.T199T|NEB_ENST00000603639.1_Silent_p.T199T|NEB_ENST00000409198.1_Silent_p.T199T|NEB_ENST00000604864.1_Silent_p.T199T|NEB_ENST00000397345.3_Silent_p.T199T NM_001164507.1 NP_001157979.1 P20929 NEBU_HUMAN nebulin 199 muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development actin cytoskeleton|cytosol|Z disc actin binding|structural constituent of muscle NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2) 301 BRCA - Breast invasive adenocarcinoma(221;0.219) TGAACATGGCGGTGTTCTTAA 0.453000 6 16 0 0 1 0 0 G6PC3 92579 broad.mit.edu 37 17 42153283 42153283 + Missense_Mutation SNP C C G TCGA-F7-A50J-01A-21D-A28R-08 TCGA-F7-A50J-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77490fcd-b6c5-4542-b0c4-7fe1c73a0e94 e7eccbde-9533-47b0-b735-b0f7a3fdf2b6 g.chr17:42153283C>G ENST00000269097.4 + 6 1144 c.913C>G c.(913-915)Cag>Gag p.Q305E NM_138387.3 NP_612396.1 Q9BUM1 G6PC3_HUMAN glucose 6 phosphatase, catalytic, 3 305 gluconeogenesis|transmembrane transport endoplasmic reticulum membrane|integral to membrane glucose-6-phosphatase activity endometrium(2)|large_intestine(5)|lung(1)|ovary(2)|skin(1) 11 Breast(137;0.00637)|Prostate(33;0.0313) BRCA - Breast invasive adenocarcinoma(366;0.113) CCACCCCCCTCAGATCAGCCT 0.617000 11 109 0 0 1 0 0 ADAMTS3 9508 broad.mit.edu 37 4 73414511 73414511 + Missense_Mutation SNP G G A rs145300703 TCGA-F7-A50J-01A-21D-A28R-08 TCGA-F7-A50J-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77490fcd-b6c5-4542-b0c4-7fe1c73a0e94 e7eccbde-9533-47b0-b735-b0f7a3fdf2b6 g.chr4:73414511G>A ENST00000286657.4 - 3 224 c.188C>T c.(187-189)gCg>gTg p.A63V ADAMTS3_ENST00000505193.1_5'UTR NM_014243.2 NP_055058.2 O15072 ATS3_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 3 63 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) TTTGTGACTCGCAGAAAGAGT 0.448000 13 55 0 0 1 0 0 ZNF43 7594 broad.mit.edu 37 19 21991248 21991248 + Missense_Mutation SNP T T C TCGA-F7-A50J-01A-21D-A28R-08 TCGA-F7-A50J-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77490fcd-b6c5-4542-b0c4-7fe1c73a0e94 e7eccbde-9533-47b0-b735-b0f7a3fdf2b6 g.chr19:21991248T>C ENST00000594012.1 - 7 2087 c.1573A>G c.(1573-1575)Act>Gct p.T525A ZNF43_ENST00000598381.1_Missense_Mutation_p.T525A|ZNF43_ENST00000595461.1_Missense_Mutation_p.T525A|ZNF43_ENST00000354959.4_Missense_Mutation_p.T531A NM_001256649.1|NM_001256651.1|NM_001256653.1|NM_001256654.1 NP_001243578.1|NP_001243580.1|NP_001243582.1|NP_001243583.1 P17038 ZNF43_HUMAN zinc finger protein 43 531 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2) 51 Renal(1328;0.000219)|Hepatocellular(1079;0.121) GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127) CCAGTATGAGTTATCTTATGT 0.348000 15 41 0 0 1 0 0 NR3C1 2908 broad.mit.edu 37 5 142680152 142680152 + Missense_Mutation SNP C C T TCGA-F7-A50J-01A-21D-A28R-08 TCGA-F7-A50J-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77490fcd-b6c5-4542-b0c4-7fe1c73a0e94 e7eccbde-9533-47b0-b735-b0f7a3fdf2b6 g.chr5:142680152C>T ENST00000343796.2 - 5 2638 c.1645G>A c.(1645-1647)Gat>Aat p.D549N NR3C1_ENST00000503201.1_Missense_Mutation_p.D549N|NR3C1_ENST00000394466.2_Missense_Mutation_p.D550N|NR3C1_ENST00000415690.2_Missense_Mutation_p.D549N|NR3C1_ENST00000424646.2_Missense_Mutation_p.D523N|NR3C1_ENST00000504336.1_5'UTR|NR3C1_ENST00000416954.2_Missense_Mutation_p.D152N|NR3C1_ENST00000504572.1_Missense_Mutation_p.D550N|NR3C1_ENST00000394464.2_Missense_Mutation_p.D549N|NR3C1_ENST00000231509.3_Missense_Mutation_p.D550N NM_001018074.1|NM_001018075.1|NM_001018077.1 NP_001018084.1|NP_001018085.1|NP_001018087.1 P04150 GCR_HUMAN nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor) 549 Steroid-binding. chromatin modification|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus|transcription from RNA polymerase II promoter mitochondrial matrix|nucleoplasm glucocorticoid receptor activity|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 35 Acute lymphoblastic leukemia(2;3.2e-05)|all_hematologic(2;0.000361) KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176) Amcinonide(DB00288)|Betamethasone(DB00443)|Budesonide(DB01222)|Dexamethasone(DB01234)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluticasone Propionate(DB00588)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Loteprednol Etabonate(DB00873)|Methylprednisolone(DB00959)|Mifepristone(DB00834)|Mometasone(DB00764)|Prednisone(DB00635) ACAGAGCTATCATATCCTGCA 0.463000 27 150 0 0 1 0 0 IMMT 10989 broad.mit.edu 37 2 86378626 86378626 + Missense_Mutation SNP C C T TCGA-F7-A50J-01A-21D-A28R-08 TCGA-F7-A50J-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77490fcd-b6c5-4542-b0c4-7fe1c73a0e94 e7eccbde-9533-47b0-b735-b0f7a3fdf2b6 g.chr2:86378626C>T ENST00000410111.3 - 12 1582 c.1195G>A c.(1195-1197)Gat>Aat p.D399N IMMT_ENST00000254636.5_Missense_Mutation_p.D300N|IMMT_ENST00000442664.2_Missense_Mutation_p.D398N|IMMT_ENST00000449247.2_Missense_Mutation_p.D388N|IMMT_ENST00000409051.2_Missense_Mutation_p.D352N NM_001100169.1|NM_001100170.1|NM_006839.2 NP_001093639.1|NP_001093640.1|NP_006830.2 Q16891 IMMT_HUMAN inner membrane protein, mitochondrial 399 integral to mitochondrial inner membrane protein binding breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 30 TTCAGATCATCAGTAGAGAGC 0.408000 8 49 0 0 1 0 0 FAM111B 374393 broad.mit.edu 37 11 58892339 58892339 + Missense_Mutation SNP G G C TCGA-F7-A50J-01A-21D-A28R-08 TCGA-F7-A50J-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77490fcd-b6c5-4542-b0c4-7fe1c73a0e94 e7eccbde-9533-47b0-b735-b0f7a3fdf2b6 g.chr11:58892339G>C ENST00000343597.3 + 4 960 c.769G>C c.(769-771)Gat>Cat p.D257H FAM111B_ENST00000411426.1_Missense_Mutation_p.D227H|FAM111B_ENST00000529618.1_Missense_Mutation_p.D227H NM_198947.3 NP_945185.1 Q6SJ93 F111B_HUMAN family with sequence similarity 111, member B 257 catalytic activity endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(12)|ovary(3)|pancreas(1)|skin(1) 40 GTCCATGGTGGATGAAGTATC 0.343000 14 46 0 0 1 0 0 WDR17 116966 broad.mit.edu 37 4 177067180 177067180 + Missense_Mutation SNP G G C TCGA-F7-A50J-01A-21D-A28R-08 TCGA-F7-A50J-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77490fcd-b6c5-4542-b0c4-7fe1c73a0e94 e7eccbde-9533-47b0-b735-b0f7a3fdf2b6 g.chr4:177067180G>C ENST00000393643.2 + 12 1816 c.1564G>C c.(1564-1566)Gtt>Ctt p.V522L WDR17_ENST00000508596.1_Missense_Mutation_p.V522L|WDR17_ENST00000280190.4_Missense_Mutation_p.V546L|WDR17_ENST00000507824.2_Missense_Mutation_p.V529L NM_170710.4 NP_733828.2 Q8IZU2 WDR17_HUMAN WD repeat domain 17 546 breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 92 Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232) AGACACAAATGTTCGTGTTTA 0.343000 13 36 0 0 1 0 0 CCDC88B 283234 broad.mit.edu 37 11 64109501 64109501 + Silent SNP C C T TCGA-F7-A50J-01A-21D-A28R-08 TCGA-F7-A50J-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77490fcd-b6c5-4542-b0c4-7fe1c73a0e94 e7eccbde-9533-47b0-b735-b0f7a3fdf2b6 g.chr11:64109501C>T ENST00000356786.5 + 8 755 c.711C>T c.(709-711)ctC>ctT p.L237L CCDC88B_ENST00000463837.1_3'UTR NM_032251.5 NP_115627.6 A6NC98 CC88B_HUMAN coiled-coil domain containing 88B 237 microtubule cytoskeleton organization cytoplasm microtubule binding endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 GAGAACCCCTCTGCTTGAGGC 0.652000 4 40 0 0 1 0 0 RAD9A 5883 broad.mit.edu 37 11 67163752 67163752 + Missense_Mutation SNP C C G TCGA-F7-A50J-01A-21D-A28R-08 TCGA-F7-A50J-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77490fcd-b6c5-4542-b0c4-7fe1c73a0e94 e7eccbde-9533-47b0-b735-b0f7a3fdf2b6 g.chr11:67163752C>G ENST00000307980.2 + 9 846 c.753C>G c.(751-753)atC>atG p.I251M RAD9A_ENST00000535644.1_3'UTR NM_001243224.1|NM_004584.2 NP_001230153.1|NP_004575.1 Q99638 RAD9A_HUMAN RAD9 homolog A (S. pombe) 251 DNA damage checkpoint|DNA repair|DNA replication|DNA replication checkpoint nucleoplasm 3'-5' exonuclease activity|exodeoxyribonuclease III activity|histone deacetylase binding|protein kinase binding|SH3 domain binding lung(7)|upper_aerodigestive_tract(1) 8 BRCA - Breast invasive adenocarcinoma(15;8.53e-07) TCTTCACCATCAAGGACTCTT 0.637000 Other conserved DNA damage response genes 24 289 0 0 1 0 0 ACACA 31 broad.mit.edu 37 17 35641860 35641860 + Missense_Mutation SNP G G C TCGA-F7-A50J-01A-21D-A28R-08 TCGA-F7-A50J-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77490fcd-b6c5-4542-b0c4-7fe1c73a0e94 e7eccbde-9533-47b0-b735-b0f7a3fdf2b6 g.chr17:35641860G>C ENST00000353139.5 - 4 831 c.350C>G c.(349-351)tCt>tGt p.S117C ACACA_ENST00000416895.1_3'UTR|ACACA_ENST00000394406.2_Missense_Mutation_p.S80C|ACACA_ENST00000360679.3_Missense_Mutation_p.S22C|ACACA_ENST00000335166.5_Missense_Mutation_p.S2C NM_198834.1|NM_198839.1 NP_942131.1|NP_942136.1 Q13085 ACACA_HUMAN acetyl-CoA carboxylase alpha 80 Biotin carboxylation. acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process cytosol acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 83 Breast(25;0.00157)|Ovarian(249;0.15) Biotin(DB00121) GTGCAAGCCAGACATGCTGGA 0.423000 12 74 0 0 1 0 0 PEX14 5195 broad.mit.edu 37 1 10535035 10535035 + Silent SNP G G C TCGA-F7-A50J-01A-21D-A28R-08 TCGA-F7-A50J-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77490fcd-b6c5-4542-b0c4-7fe1c73a0e94 e7eccbde-9533-47b0-b735-b0f7a3fdf2b6 g.chr1:10535035G>C ENST00000356607.4 + 1 92 c.12G>C c.(10-12)tcG>tcC p.S4S PEX14_ENST00000538836.1_5'UTR NM_004565.2 NP_004556.1 O75381 PEX14_HUMAN peroxisomal biogenesis factor 14 4 negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|protein homooligomerization|protein import into peroxisome matrix|transmembrane transport integral to membrane|nucleus|peroxisomal membrane|protein complex protein N-terminus binding|transcription corepressor activity breast(3)|endometrium(1)|large_intestine(3)|lung(5)|prostate(1) 13 Ovarian(185;0.203) all_lung(284;6.02e-06)|Lung NSC(185;9.62e-06)|Renal(390;0.000147)|Breast(348;0.000932)|Colorectal(325;0.00215)|Hepatocellular(190;0.00913)|Ovarian(437;0.023)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0292)|Colorectal(212;9.13e-08)|COAD - Colon adenocarcinoma(227;2.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000482)|Kidney(185;0.00174)|KIRC - Kidney renal clear cell carcinoma(229;0.00457)|STAD - Stomach adenocarcinoma(132;0.0249)|READ - Rectum adenocarcinoma(331;0.0419) TGGCGTCCTCGGAGCAGGCAG 0.692000 6 15 0 0 1 0 0 NDP 4693 broad.mit.edu 37 X 43809195 43809195 + Silent SNP G G C TCGA-F7-A50J-01A-21D-A28R-08 TCGA-F7-A50J-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77490fcd-b6c5-4542-b0c4-7fe1c73a0e94 e7eccbde-9533-47b0-b735-b0f7a3fdf2b6 g.chrX:43809195G>C ENST00000378062.5 - 3 659 c.252C>G c.(250-252)gtC>gtG p.V84V NDP-AS1_ENST00000435093.1_RNA|NDP_ENST00000470584.1_5'UTR NM_000266.3 NP_000257.1 Q00604 NDP_HUMAN Norrie disease (pseudoglioma) 84 CTCK. canonical Wnt receptor signaling pathway|cell proliferation|cell-cell signaling|nervous system development|positive regulation of transcription, DNA-dependent|sensory perception of sound|vacuole organization|visual perception extracellular matrix|extracellular space cell surface binding|frizzled binding|growth factor activity|protein homodimerization activity kidney(1)|lung(2) 3 GTTGCTTGAGGACAGTGCTGA 0.627000 OREG0019744 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 6 17 0 0 1 0 0 PKN1 5585 broad.mit.edu 37 19 14568886 14568886 + Silent SNP G G T TCGA-F7-A50J-01A-21D-A28R-08 TCGA-F7-A50J-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77490fcd-b6c5-4542-b0c4-7fe1c73a0e94 e7eccbde-9533-47b0-b735-b0f7a3fdf2b6 g.chr19:14568886G>T ENST00000242783.6 + 8 1374 c.1209G>T c.(1207-1209)ggG>ggT p.G403G PKN1_ENST00000342216.4_Silent_p.G409G NM_002741.3 NP_002732.3 Q16512 PKN1_HUMAN protein kinase N1 403 C2. activation of JUN kinase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent endosome|nucleus|plasma membrane androgen receptor binding|ATP binding|chromatin binding|GTP-Rho binding|histone binding|histone deacetylase binding|histone kinase activity (H3-T11 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|Rac GTPase binding breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(2)|upper_aerodigestive_tract(1) 31 CAGTGGTGGGGCAGACGTCTT 0.572000 53 234 8.28887e-21 9.2223e-21 1 1 0 GABRQ 55879 broad.mit.edu 37 X 151808895 151808895 + Missense_Mutation SNP G G C TCGA-F7-A50J-01A-21D-A28R-08 TCGA-F7-A50J-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77490fcd-b6c5-4542-b0c4-7fe1c73a0e94 e7eccbde-9533-47b0-b735-b0f7a3fdf2b6 g.chrX:151808895G>C ENST00000370306.2 + 2 226 c.206G>C c.(205-207)aGa>aCa p.R69T NM_018558.2 NP_061028.2 Q9UN88 GBRT_HUMAN gamma-aminobutyric acid (GABA) A receptor, theta 69 cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|neurotransmitter transporter activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(9)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 52 Acute lymphoblastic leukemia(192;6.56e-05) GTGCTGTCAAGATACGATGTC 0.473000 11 145 0 0 1 0 0 CTTN 2017 broad.mit.edu 37 11 70263192 70263192 + Missense_Mutation SNP C C A TCGA-F7-A50J-01A-21D-A28R-08 TCGA-F7-A50J-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77490fcd-b6c5-4542-b0c4-7fe1c73a0e94 e7eccbde-9533-47b0-b735-b0f7a3fdf2b6 g.chr11:70263192C>A ENST00000346329.3 + 8 839 c.531C>A c.(529-531)gaC>gaA p.D177E CTTN_ENST00000376561.3_Missense_Mutation_p.D177E|CTTN_ENST00000301843.8_Missense_Mutation_p.D177E NM_138565.2 NP_612632.1 Q14247 SRC8_HUMAN cortactin 177 cell cortex|cytoskeleton|lamellipodium|ruffle|soluble fraction protein binding breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1) 31 BRCA - Breast invasive adenocarcinoma(2;4.34e-41)|LUSC - Lung squamous cell carcinoma(11;1.51e-13)|STAD - Stomach adenocarcinoma(18;0.0513) Lung(977;0.0234)|LUSC - Lung squamous cell carcinoma(976;0.133) TGGGCTTCGACTACCAGGGCA 0.587000 15 148 2.23348e-06 2.35757e-06 1 1 0 CPNE8 144402 broad.mit.edu 37 12 39268294 39268294 + Missense_Mutation SNP T T C TCGA-F7-A50J-01A-21D-A28R-08 TCGA-F7-A50J-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77490fcd-b6c5-4542-b0c4-7fe1c73a0e94 e7eccbde-9533-47b0-b735-b0f7a3fdf2b6 g.chr12:39268294T>C ENST00000331366.5 - 2 214 c.118A>G c.(118-120)Aca>Gca p.T40A CPNE8_ENST00000360449.3_Missense_Mutation_p.T28A NM_153634.2 NP_705898.1 Q86YQ8 CPNE8_HUMAN copine VIII 40 C2 1. NS(1)|breast(1)|endometrium(1)|large_intestine(6)|lung(6)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2) 21 Esophageal squamous(101;0.187) Lung NSC(34;0.137)|Melanoma(24;0.152)|all_lung(34;0.157) TTAGAAAATGTGTCTCTGTCA 0.264000 9 31 0 0 1 0 0 GRK4 2868 broad.mit.edu 37 4 3037154 3037154 + Silent SNP C C T TCGA-F7-A50J-01A-21D-A28R-08 TCGA-F7-A50J-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77490fcd-b6c5-4542-b0c4-7fe1c73a0e94 e7eccbde-9533-47b0-b735-b0f7a3fdf2b6 g.chr4:3037154C>T ENST00000398052.4 + 13 1654 c.1311C>T c.(1309-1311)ggC>ggT p.G437G GRK4_ENST00000398051.4_Silent_p.G405G|GRK4_ENST00000504933.1_Silent_p.G437G|GRK4_ENST00000345167.6_Silent_p.G405G|GRK4_ENST00000509545.1_Intron NM_182982.2 NP_892027.2 P32298 GRK4_HUMAN G protein-coupled receptor kinase 4 437 Protein kinase. cell cortex ATP binding|G-protein coupled receptor kinase activity|signal transducer activity lung(1)|upper_aerodigestive_tract(1) 2 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) GCTGCAGGGGCGAGGGAGCGG 0.537000 18 69 0 0 1 0 0 CCDC178 374864 broad.mit.edu 37 18 30791922 30791922 + Missense_Mutation SNP C C G TCGA-F7-A50J-01A-21D-A28R-08 TCGA-F7-A50J-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77490fcd-b6c5-4542-b0c4-7fe1c73a0e94 e7eccbde-9533-47b0-b735-b0f7a3fdf2b6 g.chr18:30791922C>G ENST00000383096.3 - 20 2358 c.2176G>C c.(2176-2178)Gag>Cag p.E726Q CCDC178_ENST00000300227.8_Missense_Mutation_p.E688Q|CCDC178_ENST00000579947.1_Missense_Mutation_p.E726Q|CCDC178_ENST00000406524.2_Missense_Mutation_p.E726Q|CCDC178_ENST00000583930.1_Missense_Mutation_p.E726Q|CCDC178_ENST00000579916.1_Intron|CCDC178_ENST00000403303.1_Missense_Mutation_p.E726Q|CCDC178_ENST00000402325.1_Missense_Mutation_p.E726Q coiled-coil domain containing 178 TGATCTTCCTCAAAGATTCTC 0.328000 4 30 0 0 1 0 0 DUSP18 150290 broad.mit.edu 37 22 31059456 31059456 + Missense_Mutation SNP C C G TCGA-F7-A50J-01A-21D-A28R-08 TCGA-F7-A50J-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77490fcd-b6c5-4542-b0c4-7fe1c73a0e94 e7eccbde-9533-47b0-b735-b0f7a3fdf2b6 g.chr22:31059456C>G ENST00000334679.3 - 2 1040 c.535G>C c.(535-537)Gag>Cag p.E179Q DUSP18_ENST00000461301.1_Intron|DUSP18_ENST00000407308.1_Missense_Mutation_p.E179Q|DUSP18_ENST00000403268.1_3'UTR|DUSP18_ENST00000404885.1_Missense_Mutation_p.E179Q NM_152511.3 NP_689724.3 Q8NEJ0 DUS18_HUMAN dual specificity phosphatase 18 179 cytoplasm|nucleus MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity large_intestine(1)|lung(1)|prostate(1)|skin(1) 4 ACTTCCTTCTCATAGATGTCA 0.488000 14 51 0 0 1 0 0 PIK3AP1 118788 broad.mit.edu 37 10 98392731 98392731 + Missense_Mutation SNP C C T TCGA-F7-A50J-01A-21D-A28R-08 TCGA-F7-A50J-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77490fcd-b6c5-4542-b0c4-7fe1c73a0e94 e7eccbde-9533-47b0-b735-b0f7a3fdf2b6 g.chr10:98392731C>T ENST00000371109.3 - 1 267 c.86G>A c.(85-87)gGa>gAa p.G29E PIK3AP1_ENST00000371110.2_Intron|PIK3AP1_ENST00000468783.1_Intron|PIK3AP1_ENST00000339364.5_Intron Q6ZUJ8 BCAP_HUMAN phosphoinositide-3-kinase adaptor protein 1 0 cytoplasm|plasma membrane NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(27)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4) 52 Colorectal(252;0.0442) Epithelial(162;6.29e-08)|all cancers(201;3.18e-06) agctggtcttcctttgagcca 0.493000 8 54 0 0 1 0 0 FAT4 79633 broad.mit.edu 37 4 126398448 126398448 + Silent SNP G G T TCGA-F7-A50J-01A-21D-A28R-08 TCGA-F7-A50J-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77490fcd-b6c5-4542-b0c4-7fe1c73a0e94 e7eccbde-9533-47b0-b735-b0f7a3fdf2b6 g.chr4:126398448G>T ENST00000394329.3 + 13 12445 c.12432G>T c.(12430-12432)ctG>ctT p.L4144L FAT4_ENST00000335110.5_Silent_p.L2407L NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 4144 Laminin G-like 1. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 GAAGGCCTCTGGAACCCAGCC 0.408000 18 115 5.3912e-06 5.64249e-06 1 1 0 ZNF662 389114 broad.mit.edu 37 3 42956616 42956616 + Missense_Mutation SNP C C A TCGA-F7-A50J-01A-21D-A28R-08 TCGA-F7-A50J-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77490fcd-b6c5-4542-b0c4-7fe1c73a0e94 e7eccbde-9533-47b0-b735-b0f7a3fdf2b6 g.chr3:42956616C>A ENST00000541208.1 + 5 1420 c.1051C>A c.(1051-1053)Cag>Aag p.Q351K ZNF662_ENST00000422021.1_Intron|ZNF662_ENST00000440367.2_Missense_Mutation_p.Q351K|KRBOX1_ENST00000426937.1_Intron|ZNF662_ENST00000328199.6_Missense_Mutation_p.Q377K Q6ZS27 ZN662_HUMAN zinc finger protein 662 351 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(1)|large_intestine(6)|lung(5)|upper_aerodigestive_tract(1) 15 KIRC - Kidney renal clear cell carcinoma(284;0.217) TTCTCAGCACCAGAGGGTCCA 0.483000 4 57 0.00909568 0.0092454 1 1 0 FAAH2 158584 broad.mit.edu 37 X 57367792 57367792 + Missense_Mutation SNP C C G TCGA-F7-A50J-01A-21D-A28R-08 TCGA-F7-A50J-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77490fcd-b6c5-4542-b0c4-7fe1c73a0e94 e7eccbde-9533-47b0-b735-b0f7a3fdf2b6 g.chrX:57367792C>G ENST00000374900.4 + 5 831 c.711C>G c.(709-711)ttC>ttG p.F237L NM_174912.3 NP_777572.2 Q6GMR7 FAAH2_HUMAN fatty acid amide hydrolase 2 237 integral to membrane carbon-nitrogen ligase activity, with glutamine as amido-N-donor|hydrolase activity endometrium(2)|large_intestine(4)|lung(10)|ovary(3)|upper_aerodigestive_tract(3) 22 CTGCTTTCTTCAATGGTATAT 0.423000 HNSCC(52;0.14) 25 179 0 0 1 0 0 PPP6R3 55291 broad.mit.edu 37 11 68326137 68326137 + Nonsense_Mutation SNP C C T TCGA-F7-A50J-01A-21D-A28R-08 TCGA-F7-A50J-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77490fcd-b6c5-4542-b0c4-7fe1c73a0e94 e7eccbde-9533-47b0-b735-b0f7a3fdf2b6 g.chr11:68326137C>T ENST00000393799.2 + 8 1102 c.835C>T c.(835-837)Cga>Tga p.R279* PPP6R3_ENST00000524904.1_Nonsense_Mutation_p.R279*|PPP6R3_ENST00000265637.4_Nonsense_Mutation_p.R279*|PPP6R3_ENST00000265636.5_Nonsense_Mutation_p.R279*|PPP6R3_ENST00000393800.2_Nonsense_Mutation_p.R279*|PPP6R3_ENST00000529710.1_Nonsense_Mutation_p.R279*|PPP6R3_ENST00000527403.2_Nonsense_Mutation_p.R279*|PPP6R3_ENST00000524845.1_Nonsense_Mutation_p.R279*|PPP6R3_ENST00000393801.3_Nonsense_Mutation_p.R279*|PPP6R3_ENST00000534534.1_Intron Q5H9R7 PP6R3_HUMAN protein phosphatase 6, regulatory subunit 3 279 regulation of phosphoprotein phosphatase activity cytoplasm|nucleus protein phosphatase binding breast(2)|endometrium(6)|kidney(3)|large_intestine(10)|liver(2)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 ACTTGAGACACGACGACCAAC 0.348000 11 90 0 0 1 0 0 ASAP2 8853 broad.mit.edu 37 2 9496196 9496196 + Missense_Mutation SNP C C G TCGA-F7-A50J-01A-21D-A28R-08 TCGA-F7-A50J-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77490fcd-b6c5-4542-b0c4-7fe1c73a0e94 e7eccbde-9533-47b0-b735-b0f7a3fdf2b6 g.chr2:9496196C>G ENST00000281419.3 + 13 1472 c.1132C>G c.(1132-1134)Caa>Gaa p.Q378E ASAP2_ENST00000315273.4_Missense_Mutation_p.Q378E NM_003887.2 NP_003878.1 O43150 ASAP2_HUMAN ArfGAP with SH3 domain, ankyrin repeat and PH domain 2 378 PH. regulation of ARF GTPase activity Golgi cisterna membrane|plasma membrane ARF GTPase activator activity|protein binding|zinc ion binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 36 TTACCACTTTCAAGCTGAAGA 0.413000 9 86 0 0 1 0 0 ODF2 4957 broad.mit.edu 37 9 131231550 131231550 + Missense_Mutation SNP A A G TCGA-F7-A50J-01A-21D-A28R-08 TCGA-F7-A50J-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77490fcd-b6c5-4542-b0c4-7fe1c73a0e94 e7eccbde-9533-47b0-b735-b0f7a3fdf2b6 g.chr9:131231550A>G ENST00000303890.5 + 7 851 c.266A>G c.(265-267)gAt>gGt p.D89G ODF2_ENST00000444119.2_Missense_Mutation_p.D89G|RP11-339B21.9_ENST00000420801.1_RNA|ODF2_ENST00000351030.3_Missense_Mutation_p.D108G|ODF2_ENST00000372814.3_Missense_Mutation_p.D157G|ODF2_ENST00000535026.1_Intron|ODF2_ENST00000372807.5_Missense_Mutation_p.D108G|ODF2_ENST00000448249.3_Intron|ODF2_ENST00000434106.2_Missense_Mutation_p.D113G|ODF2_ENST00000546203.1_Missense_Mutation_p.D94G|ODF2_ENST00000372796.4_Missense_Mutation_p.D113G|ODF2_ENST00000393533.2_Missense_Mutation_p.D113G|ODF2_ENST00000372791.3_Missense_Mutation_p.D94G NM_002540.4 NP_002531.3 Q5BJF6 ODFP2_HUMAN outer dense fiber of sperm tails 2 113 cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis centriole|cilium|cytosol|microtubule|spindle pole protein binding|structural molecule activity autonomic_ganglia(1)|breast(7)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 37 ACAGAAGATGATGACTCAGGT 0.468000 11 99 0 0 1 0 0 IFT80 57560 broad.mit.edu 37 3 159996983 159996983 + Missense_Mutation SNP T T G TCGA-F7-A50J-01A-21D-A28R-08 TCGA-F7-A50J-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77490fcd-b6c5-4542-b0c4-7fe1c73a0e94 e7eccbde-9533-47b0-b735-b0f7a3fdf2b6 g.chr3:159996983T>G ENST00000326448.7 - 16 2266 c.1834A>C c.(1834-1836)Aag>Cag p.K612Q RP11-432B6.3_ENST00000483754.1_Missense_Mutation_p.K783Q|IFT80_ENST00000483465.1_Missense_Mutation_p.K475Q|IFT80_ENST00000496589.1_Missense_Mutation_p.K475Q NM_020800.2 NP_065851.1 Q9P2H3 IFT80_HUMAN intraflagellar transport 80 homolog (Chlamydomonas) 612 cilium axoneme|microtubule basal body NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(12)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 36 Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523) TAAATTACCTTAACAAAGCGA 0.338000 5 43 0 0 1 0 0 GPR75-ASB3 100302652 broad.mit.edu 37 2 53992565 53992565 + Missense_Mutation SNP C C T TCGA-F7-A50J-01A-21D-A28R-08 TCGA-F7-A50J-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77490fcd-b6c5-4542-b0c4-7fe1c73a0e94 e7eccbde-9533-47b0-b735-b0f7a3fdf2b6 g.chr2:53992565C>T ENST00000263634.3 - 2 279 c.145G>A c.(145-147)Gaa>Aaa p.E49K ASB3_ENST00000498475.2_Intron|GPR75-ASB3_ENST00000352846.3_Missense_Mutation_p.E87K|GPR75-ASB3_ENST00000482829.1_5'UTR|GPR75-ASB3_ENST00000406687.1_Intron|GPR75-ASB3_ENST00000394717.2_Intron|ASB3_ENST00000406625.2_Missense_Mutation_p.E84K NM_016115.4 NP_057199.1 Q2TAI4 Q2TAI4_HUMAN 84 intracellular signal transduction TAAGCTGCTTCATGAATTGGC 0.408000 18 130 0 0 1 0 0 ECE2 9718 broad.mit.edu 37 3 184008621 184008621 + Nonsense_Mutation SNP G G T TCGA-F7-A50J-01A-21D-A28R-08 TCGA-F7-A50J-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77490fcd-b6c5-4542-b0c4-7fe1c73a0e94 e7eccbde-9533-47b0-b735-b0f7a3fdf2b6 g.chr3:184008621G>T ENST00000402825.3 + 16 2161 c.2161G>T c.(2161-2163)Gag>Tag p.E721* EIF2B5_ENST00000444495.1_Intron|ECE2_ENST00000404464.3_Nonsense_Mutation_p.E603*|ECE2_ENST00000359140.4_Nonsense_Mutation_p.E574*|ECE2_ENST00000357474.5_Nonsense_Mutation_p.E649* NM_014693.3 NP_055508.3 O60344 ECE2_HUMAN endothelin converting enzyme 2 721 Endothelin-converting enzyme 2 region. brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing cytoplasmic vesicle membrane|Golgi membrane|integral to membrane metal ion binding|metalloendopeptidase activity|methyltransferase activity breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4) 49 all_cancers(143;1.39e-10)|Ovarian(172;0.0339) Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) CATGGGCCATGAGTTGACGCA 0.577000 11 151 1.5842e-08 1.68663e-08 1 1 0 CDK10 8558 broad.mit.edu 37 16 89755672 89755672 + Missense_Mutation SNP C C T TCGA-F7-A50J-01A-21D-A28R-08 TCGA-F7-A50J-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77490fcd-b6c5-4542-b0c4-7fe1c73a0e94 e7eccbde-9533-47b0-b735-b0f7a3fdf2b6 g.chr16:89755672C>T ENST00000353379.7 + 2 143 c.100C>T c.(100-102)Cgg>Tgg p.R34W CDK10_ENST00000505473.1_5'UTR|CDK10_ENST00000331006.8_Intron|CDK10_ENST00000514965.1_3'UTR NM_001098533.2|NM_001160367.1|NM_052988.4 NP_001092003.2|NP_001153839.1|NP_443714.3 Q15131 CDK10_HUMAN cyclin-dependent kinase 10 34 negative regulation of cell proliferation|traversing start control point of mitotic cell cycle ATP binding|cyclin-dependent protein kinase activity|protein binding ovary(1) 1 Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256) BRCA - Breast invasive adenocarcinoma(80;0.0276) GGGACGATGCCGGAGTGTGAA 0.527000 13 64 0 0 1 0 0 XRCC1 7515 broad.mit.edu 37 19 44050066 44050066 + Nonsense_Mutation SNP C C A TCGA-F7-A50J-01A-21D-A28R-08 TCGA-F7-A50J-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77490fcd-b6c5-4542-b0c4-7fe1c73a0e94 e7eccbde-9533-47b0-b735-b0f7a3fdf2b6 g.chr19:44050066C>A ENST00000262887.5 - 14 2072 c.1525G>T c.(1525-1527)Gag>Tag p.E509* XRCC1_ENST00000543982.1_Nonsense_Mutation_p.E478* P18887 XRCC1_HUMAN X-ray repair complementing defective repair in Chinese hamster cells 1 509 base-excision repair|single strand break repair nucleoplasm damaged DNA binding|protein binding breast(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 Prostate(69;0.0153) TCCCCATTCTCCTCCTGGCCA 0.617000 Other BER factors 6 50 0.00116845 0.00119754 1 1 0 LRP1 4035 broad.mit.edu 37 12 57553626 57553626 + Missense_Mutation SNP G G T TCGA-F7-A50J-01A-21D-A28R-08 TCGA-F7-A50J-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77490fcd-b6c5-4542-b0c4-7fe1c73a0e94 e7eccbde-9533-47b0-b735-b0f7a3fdf2b6 g.chr12:57553626G>T ENST00000243077.3 + 12 2283 c.1817G>T c.(1816-1818)gGt>gTt p.G606V NM_002332.2 NP_002323.2 Q07954 LRP1_HUMAN low density lipoprotein receptor-related protein 1 606 aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity coated pit|integral to plasma membrane|nucleus apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 184 BRCA - Breast invasive adenocarcinoma(357;0.0103) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031) AATGTGGAGGGTGTGGCCGTG 0.582000 25 84 3.65163e-15 4.00868e-15 1 1 0 DYNC1I1 1780 broad.mit.edu 37 7 95614203 95614203 + Silent SNP G G T TCGA-F7-A50J-01A-21D-A28R-08 TCGA-F7-A50J-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77490fcd-b6c5-4542-b0c4-7fe1c73a0e94 e7eccbde-9533-47b0-b735-b0f7a3fdf2b6 g.chr7:95614203G>T ENST00000324972.6 + 8 901 c.708G>T c.(706-708)cgG>cgT p.R236R DYNC1I1_ENST00000537881.1_Silent_p.R199R|DYNC1I1_ENST00000359388.4_Silent_p.R199R|DYNC1I1_ENST00000457059.1_Silent_p.R219R|DYNC1I1_ENST00000437599.1_Silent_p.R216R|DYNC1I1_ENST00000447467.2_Silent_p.R219R NM_004411.4 NP_004402.1 O14576 DC1I1_HUMAN dynein, cytoplasmic 1, intermediate chain 1 236 vesicle transport along microtubule condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|perinuclear region of cytoplasm|spindle pole|vesicle microtubule binding|microtubule motor activity NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 54 all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191) STAD - Stomach adenocarcinoma(171;0.0957) TTTTTGACCGGACAATACGGG 0.403000 21 114 7.41877e-09 7.96712e-09 1 1 0 ENOX2 10495 broad.mit.edu 37 X 129771375 129771375 + Nonsense_Mutation SNP G G C TCGA-F7-A50J-01A-21D-A28R-08 TCGA-F7-A50J-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77490fcd-b6c5-4542-b0c4-7fe1c73a0e94 e7eccbde-9533-47b0-b735-b0f7a3fdf2b6 g.chrX:129771375G>C ENST00000338144.3 - 12 1643 c.1226C>G c.(1225-1227)tCa>tGa p.S409* ENOX2_ENST00000370927.1_Nonsense_Mutation_p.S409*|ENOX2_ENST00000370935.1_Nonsense_Mutation_p.S380*|ENOX2_ENST00000394363.1_Nonsense_Mutation_p.S380* NM_182314.1 NP_872114.1 Q16206 ENOX2_HUMAN ecto-NOX disulfide-thiol exchanger 2 409 cell growth|electron transport chain|regulation of growth|transport|ultradian rhythm cytosol|external side of plasma membrane|extracellular space nucleic acid binding|nucleotide binding|protein disulfide oxidoreductase activity breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(3) 33 TTCTGCCTGTGATACTAAGGC 0.408000 13 72 0 0 1 0 0 SLC44A3 126969 broad.mit.edu 37 1 95305516 95305516 + Missense_Mutation SNP C C T TCGA-F7-A50J-01A-21D-A28R-08 TCGA-F7-A50J-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77490fcd-b6c5-4542-b0c4-7fe1c73a0e94 e7eccbde-9533-47b0-b735-b0f7a3fdf2b6 g.chr1:95305516C>T ENST00000271227.6 + 7 785 c.683C>T c.(682-684)gCc>gTc p.A228V SLC44A3_ENST00000529450.1_Missense_Mutation_p.A196V|SLC44A3_ENST00000467909.1_Missense_Mutation_p.A180V|SLC44A3_ENST00000530397.1_3'UTR|SLC44A3_ENST00000532427.1_Missense_Mutation_p.A148V|SLC44A3_ENST00000446120.2_Missense_Mutation_p.A192V|SLC44A3_ENST00000527077.1_Missense_Mutation_p.A160V|RP11-465K1.2_ENST00000422162.1_RNA NM_001114106.2|NM_001258340.1|NM_001258341.1 NP_001107578.1|NP_001245269.1|NP_001245270.1 Q8N4M1 CTL3_HUMAN solute carrier family 44, member 3 228 integral to membrane|plasma membrane choline transmembrane transporter activity breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|prostate(2)|stomach(1)|urinary_tract(1) 23 all_lung(203;0.000712)|Lung NSC(277;0.00316) all cancers(265;0.039)|Epithelial(280;0.124) Choline(DB00122) TTGTCTTTGGCCATGATGTTT 0.388000 12 82 0 0 1 0 0 ANO9 338440 broad.mit.edu 37 11 428530 428530 + Missense_Mutation SNP G G T TCGA-F7-A50J-01A-21D-A28R-08 TCGA-F7-A50J-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77490fcd-b6c5-4542-b0c4-7fe1c73a0e94 e7eccbde-9533-47b0-b735-b0f7a3fdf2b6 g.chr11:428530G>T ENST00000332826.6 - 13 1214 c.1130C>A c.(1129-1131)gCc>gAc p.A377D NM_001012302.2 NP_001012302.2 A1A5B4 ANO9_HUMAN anoctamin 9 377 chloride channel complex chloride channel activity central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|lung(5)|ovary(1)|prostate(4)|skin(4) 21 CACCACCACGGCCGTGGTCAC 0.677000 7 100 0.00198382 0.00202481 1 1 0 MDGA2 161357 broad.mit.edu 37 14 47426585 47426585 + Missense_Mutation SNP A A G TCGA-F7-A50J-01A-21D-A28R-08 TCGA-F7-A50J-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77490fcd-b6c5-4542-b0c4-7fe1c73a0e94 e7eccbde-9533-47b0-b735-b0f7a3fdf2b6 g.chr14:47426585A>G ENST00000426342.1 - 9 1933 c.1187T>C c.(1186-1188)cTt>cCt p.L396P MDGA2_ENST00000357362.3_Missense_Mutation_p.L396P|MDGA2_ENST00000439988.2_Missense_Mutation_p.L625P|MDGA2_ENST00000399232.2_Missense_Mutation_p.L694P NM_182830.3 NP_878250.2 Q7Z553 MDGA2_HUMAN MAM domain containing glycosylphosphatidylinositol anchor 2 625 Ig-like 4. spinal cord motor neuron differentiation anchored to membrane|plasma membrane breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5) 76 ACCTGTAACAAGAAAGCTGCA 0.343000 3 38 0 0 1 0 0 USP32 84669 broad.mit.edu 37 17 58258922 58258922 + Silent SNP C C T TCGA-F7-A50J-01A-21D-A28R-08 TCGA-F7-A50J-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77490fcd-b6c5-4542-b0c4-7fe1c73a0e94 e7eccbde-9533-47b0-b735-b0f7a3fdf2b6 g.chr17:58258922C>T ENST00000300896.4 - 32 4505 c.4311G>A c.(4309-4311)caG>caA p.Q1437Q USP32_ENST00000592339.1_Silent_p.Q1107Q NM_032582.3 NP_115971.2 Q8NFA0 UBP32_HUMAN ubiquitin specific peptidase 32 1437 protein deubiquitination|ubiquitin-dependent protein catabolic process Golgi apparatus|membrane calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1) 62 all_neural(34;0.0878)|Medulloblastoma(34;0.0922) Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198) GCTCACATATCTGCCCAGCCC 0.547000 13 61 0 0 1 0 0 ZNF679 168417 broad.mit.edu 37 7 63726909 63726909 + Nonsense_Mutation SNP G G T TCGA-F7-A50J-01A-21D-A28R-08 TCGA-F7-A50J-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77490fcd-b6c5-4542-b0c4-7fe1c73a0e94 e7eccbde-9533-47b0-b735-b0f7a3fdf2b6 g.chr7:63726909G>T ENST00000421025.1 + 5 1167 c.898G>T c.(898-900)Gaa>Taa p.E300* ZNF679_ENST00000255746.4_Nonsense_Mutation_p.E300* NM_001159524.1|NM_153363.2 NP_001152996.1|NP_699194.2 Q8IYX0 ZN679_HUMAN zinc finger protein 679 300 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(3)|lung(11)|skin(1)|stomach(1) 18 CACATGTGAAGAATGTGGCAA 0.443000 24 26 2.32416e-17 2.57429e-17 1 1 0 CDH11 1009 broad.mit.edu 37 16 65016096 65016096 + Missense_Mutation SNP C C T TCGA-F7-A50J-01A-21D-A28R-08 TCGA-F7-A50J-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77490fcd-b6c5-4542-b0c4-7fe1c73a0e94 e7eccbde-9533-47b0-b735-b0f7a3fdf2b6 g.chr16:65016096C>T ENST00000394156.3 - 8 1561 c.1108G>A c.(1108-1110)Gtc>Atc p.V370I CDH11_ENST00000268603.4_Missense_Mutation_p.V370I|CDH11_ENST00000566827.1_Missense_Mutation_p.V244I P55287 CAD11_HUMAN cadherin 11, type 2, OB-cadherin (osteoblast) 370 Cadherin 3. adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development integral to membrane|plasma membrane calcium ion binding|protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2) 88 Ovarian(137;0.0973) OV - Ovarian serous cystadenocarcinoma(108;0.205) GAGATCTTGACGGTCACAGTG 0.498000 T USP6 aneurysmal bone cysts TSP Lung(24;0.17) 15 95 0 0 1 0 0 DNAH5 1767 broad.mit.edu 37 5 13824339 13824339 + Missense_Mutation SNP C C T TCGA-F7-A50J-01A-21D-A28R-08 TCGA-F7-A50J-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77490fcd-b6c5-4542-b0c4-7fe1c73a0e94 e7eccbde-9533-47b0-b735-b0f7a3fdf2b6 g.chr5:13824339C>T ENST00000265104.4 - 39 6652 c.6548G>A c.(6547-6549)cGt>cAt p.R2183H NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 2183 microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity p.R2183L(1) NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) CCGTAGTACACGCATGACAAT 0.448000 Kartagener syndrome 13 60 0 0 1 0 0 TRPC5 7224 broad.mit.edu 37 X 111020092 111020092 + Missense_Mutation SNP G G A rs138566611 TCGA-F7-A50J-01A-21D-A28R-08 TCGA-F7-A50J-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77490fcd-b6c5-4542-b0c4-7fe1c73a0e94 e7eccbde-9533-47b0-b735-b0f7a3fdf2b6 g.chrX:111020092G>A ENST00000262839.2 - 11 3289 c.2371C>T c.(2371-2373)Cgg>Tgg p.R791W NM_012471.2 NP_036603.1 Q9UL62 TRPC5_HUMAN transient receptor potential cation channel, subfamily C, member 5 791 axon guidance calcium channel complex|integral to plasma membrane protein binding|store-operated calcium channel activity biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 62 GATTTGGCCCGAGCCCCACCA 0.488000 31 253 0 0 1 0 0 FAM181B 220382 broad.mit.edu 37 11 82444685 82444685 + Silent SNP G G A TCGA-F7-A50J-01A-21D-A28R-08 TCGA-F7-A50J-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77490fcd-b6c5-4542-b0c4-7fe1c73a0e94 e7eccbde-9533-47b0-b735-b0f7a3fdf2b6 g.chr11:82444685G>A ENST00000329203.3 - 1 221 c.87C>T c.(85-87)ttC>ttT p.F29F NM_175885.3 NP_787081.2 A6NEQ2 F181B_HUMAN family with sequence similarity 181, member B 29 large_intestine(1)|lung(2)|prostate(1) 4 CCAGGGCTCCGAAGGCGCCCC 0.736000 6 17 0 0 1 0 0 BPIFA1 51297 broad.mit.edu 37 20 31830292 31830292 + Splice_Site SNP G G C TCGA-F7-A50J-01A-21D-A28R-08 TCGA-F7-A50J-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77490fcd-b6c5-4542-b0c4-7fe1c73a0e94 e7eccbde-9533-47b0-b735-b0f7a3fdf2b6 g.chr20:31830292G>C ENST00000354297.4 + 8 801 c.e8-1 BPIFA1_ENST00000375422.2_Splice_Site|BPIFA1_ENST00000375413.4_Splice_Site NM_130852.2 NP_570913.1 Q9NP55 PLUNC_HUMAN BPI fold containing family A, member 1 innate immune response extracellular region lipid binding TGTTTGTTTAGACATGCTGAT 0.512000 4 46 0 0 1 0 0 AGL 178 broad.mit.edu 37 1 100358105 100358105 + Silent SNP T T G TCGA-F7-A50J-01A-21D-A28R-08 TCGA-F7-A50J-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77490fcd-b6c5-4542-b0c4-7fe1c73a0e94 e7eccbde-9533-47b0-b735-b0f7a3fdf2b6 g.chr1:100358105T>G ENST00000294724.4 + 24 3679 c.3201T>G c.(3199-3201)ccT>ccG p.P1067P AGL_ENST00000361915.3_Silent_p.P1067P|AGL_ENST00000361302.3_Silent_p.P1051P|AGL_ENST00000361522.4_Silent_p.P1050P|AGL_ENST00000370165.3_Silent_p.P1067P|AGL_ENST00000370163.3_Silent_p.P1067P|AGL_ENST00000370161.2_Silent_p.P1051P NM_000028.2 NP_000019.2 P35573 GDE_HUMAN amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase 1067 P -> S (in dbSNP:rs3753494). glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process cytosol|isoamylase complex|nucleus 4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1) 69 all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131) Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237) TGGATGTACCTTATAGGTTAA 0.383000 6 28 0 0 1 0 0 CYP2J2 1573 broad.mit.edu 37 1 60392364 60392364 + Missense_Mutation SNP G G C TCGA-F7-A50J-01A-21D-A28R-08 TCGA-F7-A50J-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77490fcd-b6c5-4542-b0c4-7fe1c73a0e94 e7eccbde-9533-47b0-b735-b0f7a3fdf2b6 g.chr1:60392364G>C ENST00000371204.3 - 1 98 c.55C>G c.(55-57)Cgg>Ggg p.R19G NM_000775.2 NP_000766.2 P51589 CP2J2_HUMAN cytochrome P450, family 2, subfamily J, polypeptide 2 19 epoxygenase P450 pathway|linoleic acid metabolic process|regulation of heart contraction|xenobiotic metabolic process endoplasmic reticulum membrane|microsome arachidonic acid 11,12-epoxygenase activity|arachidonic acid 14,15-epoxygenase activity|aromatase activity|electron carrier activity|heme binding|linoleic acid epoxygenase activity NS(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|skin(1) 26 all_cancers(7;0.000396) AGGAGAGTCCGAGGATGGACC 0.657000 6 49 0 0 1 0 0 CMIP 80790 broad.mit.edu 37 16 81712170 81712170 + Missense_Mutation SNP G G C TCGA-F7-A50J-01A-21D-A28R-08 TCGA-F7-A50J-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77490fcd-b6c5-4542-b0c4-7fe1c73a0e94 e7eccbde-9533-47b0-b735-b0f7a3fdf2b6 g.chr16:81712170G>C ENST00000537098.3 + 10 1397 c.1325G>C c.(1324-1326)aGc>aCc p.S442T CMIP_ENST00000539778.2_Missense_Mutation_p.S348T|CMIP_ENST00000398040.4_Missense_Mutation_p.S289T|CMIP_ENST00000566513.1_3'UTR NM_198390.2 NP_938204.2 Q8IY22 CMIP_HUMAN c-Maf inducing protein 408 cytoplasm|nucleus endometrium(5)|kidney(1)|lung(7) 13 AGCACCATGAGCATCGAGCTG 0.711000 4 21 0 0 1 0 0 KIAA0232 9778 broad.mit.edu 37 4 6864034 6864034 + Missense_Mutation SNP C C G TCGA-F7-A50J-01A-21D-A28R-08 TCGA-F7-A50J-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77490fcd-b6c5-4542-b0c4-7fe1c73a0e94 e7eccbde-9533-47b0-b735-b0f7a3fdf2b6 g.chr4:6864034C>G ENST00000307659.5 + 7 2380 c.1925C>G c.(1924-1926)tCt>tGt p.S642C KIAA0232_ENST00000425103.1_Missense_Mutation_p.S642C NM_014743.2 NP_055558.2 Q92628 K0232_HUMAN KIAA0232 642 ATP binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(12)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1) 41 AATGAAGGATCTGGTATAAAC 0.378000 3 28 0 0 1 0 0 GRIK3 2899 broad.mit.edu 37 1 37282705 37282705 + Missense_Mutation SNP C C G TCGA-F7-A50J-01A-21D-A28R-08 TCGA-F7-A50J-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77490fcd-b6c5-4542-b0c4-7fe1c73a0e94 e7eccbde-9533-47b0-b735-b0f7a3fdf2b6 g.chr1:37282705C>G ENST00000373091.3 - 13 2063 c.2047G>C c.(2047-2049)Gag>Cag p.E683Q GRIK3_ENST00000373093.4_Missense_Mutation_p.E683Q NM_000831.3 NP_000822.2 Q13003 GRIK3_HUMAN glutamate receptor, ionotropic, kainate 3 683 negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1) 89 Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169) L-Glutamic Acid(DB00142) GCCCCATACTCGATTTTGGTT 0.562000 5 40 0 0 1 0 0 CBFA2T2 9139 broad.mit.edu 37 20 32212681 32212681 + Silent SNP C C G TCGA-F7-A50J-01A-21D-A28R-08 TCGA-F7-A50J-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77490fcd-b6c5-4542-b0c4-7fe1c73a0e94 e7eccbde-9533-47b0-b735-b0f7a3fdf2b6 g.chr20:32212681C>G ENST00000346541.3 + 7 1368 c.831C>G c.(829-831)ctC>ctG p.L277L CBFA2T2_ENST00000397800.1_Silent_p.L248L|CBFA2T2_ENST00000375279.2_Silent_p.L277L|CBFA2T2_ENST00000342704.5_Silent_p.L268L|CBFA2T2_ENST00000491618.1_3'UTR|CBFA2T2_ENST00000359606.3_Silent_p.L287L NM_005093.3 NP_005084.1 O43439 MTG8R_HUMAN core-binding factor, runt domain, alpha subunit 2; translocated to, 2 277 nucleus protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2) 20 CTGTGCCCCTCATGAATCCCG 0.517000 36 67 0 0 1 0 0 FLG2 388698 broad.mit.edu 37 1 152325523 152325523 + Missense_Mutation SNP G G C TCGA-F7-A50J-01A-21D-A28R-08 TCGA-F7-A50J-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77490fcd-b6c5-4542-b0c4-7fe1c73a0e94 e7eccbde-9533-47b0-b735-b0f7a3fdf2b6 g.chr1:152325523G>C ENST00000388718.5 - 3 4811 c.4739C>G c.(4738-4740)aCt>aGt p.T1580S FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA NM_001014342.2 NP_001014364.1 Q5D862 FILA2_HUMAN filaggrin family member 2 1580 calcium ion binding|structural molecule activity NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 188 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TTCACTGTCAGTGGACTCACT 0.507000 5 252 0 0 1 0 0 ZNF423 23090 broad.mit.edu 37 16 49669771 49669771 + Missense_Mutation SNP G G A TCGA-F7-A50J-01A-21D-A28R-08 TCGA-F7-A50J-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77490fcd-b6c5-4542-b0c4-7fe1c73a0e94 e7eccbde-9533-47b0-b735-b0f7a3fdf2b6 g.chr16:49669771G>A ENST00000561648.1 - 4 3345 c.3292C>T c.(3292-3294)Cgc>Tgc p.R1098C ZNF423_ENST00000535559.1_Missense_Mutation_p.R981C|ZNF423_ENST00000562520.1_Missense_Mutation_p.R1038C|ZNF423_ENST00000262383.2_Missense_Mutation_p.R1098C|ZNF423_ENST00000563137.2_Missense_Mutation_p.R1038C|ZNF423_ENST00000562871.1_Missense_Mutation_p.R1038C|ZNF423_ENST00000567169.1_Missense_Mutation_p.R981C NM_001271620.1 NP_001258549.1 Q2M1K9 ZN423_HUMAN zinc finger protein 423 1098 cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2) 89 all_cancers(37;0.0155) TTGGCGCTGCGGGCCATGCAG 0.692000 5 48 0 0 1 0 0 NRIP1 8204 broad.mit.edu 37 21 16339064 16339064 + Missense_Mutation SNP G G C TCGA-F7-A50J-01A-21D-A28R-08 TCGA-F7-A50J-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77490fcd-b6c5-4542-b0c4-7fe1c73a0e94 e7eccbde-9533-47b0-b735-b0f7a3fdf2b6 g.chr21:16339064G>C ENST00000400202.1 - 3 2162 c.1450C>G c.(1450-1452)Caa>Gaa p.Q484E NRIP1_ENST00000318948.4_Missense_Mutation_p.Q484E|NRIP1_ENST00000400199.1_Missense_Mutation_p.Q484E P48552 NRIP1_HUMAN nuclear receptor interacting protein 1 484 Repression domain 2. androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent androgen receptor binding|estrogen receptor binding|glucocorticoid receptor binding|transcription coactivator activity|transcription corepressor activity cervix(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(13)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 39 Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24) GAGGTATCTTGATCTTCTTTG 0.363000 6 64 0 0 1 0 0 STPG2 285555 broad.mit.edu 37 4 98633879 98633879 + Missense_Mutation SNP C C G TCGA-F7-A50J-01A-21D-A28R-08 TCGA-F7-A50J-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77490fcd-b6c5-4542-b0c4-7fe1c73a0e94 e7eccbde-9533-47b0-b735-b0f7a3fdf2b6 g.chr4:98633879C>G ENST00000295268.3 - 10 1380 c.1291G>C c.(1291-1293)Gag>Cag p.E431Q STPG2_ENST00000506482.1_5'UTR NM_174952.2 NP_777612.1 sperm-tail PG-rich repeat containing 2 GGAGTAATCTCTTTGGACTCT 0.383000 6 40 0 0 1 0 0 ABCA13 154664 broad.mit.edu 37 7 48318210 48318210 + Missense_Mutation SNP A A T TCGA-F7-A50J-01A-21D-A28R-08 TCGA-F7-A50J-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77490fcd-b6c5-4542-b0c4-7fe1c73a0e94 e7eccbde-9533-47b0-b735-b0f7a3fdf2b6 g.chr7:48318210A>T ENST00000435803.1 + 18 7443 c.7419A>T c.(7417-7419)gaA>gaT p.E2473D NM_152701.3 NP_689914.2 Q86UQ4 ABCAD_HUMAN ATP-binding cassette, sub-family A (ABC1), member 13 2473 transport integral to membrane ATP binding|ATPase activity breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 270 CAACATTAGAAATTACTAAGA 0.373000 20 82 0 0 1 0 0 ERCC6 2074 broad.mit.edu 37 10 50686430 50686430 + Missense_Mutation SNP C C G TCGA-F7-A50J-01A-21D-A28R-08 TCGA-F7-A50J-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77490fcd-b6c5-4542-b0c4-7fe1c73a0e94 e7eccbde-9533-47b0-b735-b0f7a3fdf2b6 g.chr10:50686430C>G ENST00000355832.5 - 11 2334 c.2256G>C c.(2254-2256)atG>atC p.M752I ERCC6_ENST00000542458.1_Missense_Mutation_p.M122I NM_000124.2 NP_000115.1 Q03468 ERCC6_HUMAN excision repair cross-complementing rodent repair deficiency, complementation group 6 752 base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair nucleolus|soluble fraction|transcription elongation factor complex ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 AAGAAAGGCTCATCTTGACAT 0.403000 Direct reversal of damage;Nucleotide excision repair (NER) 19 149 0 0 1 0 0 UBE2Q2 92912 broad.mit.edu 37 15 76183295 76183295 + Silent SNP C C T TCGA-F7-A50J-01A-21D-A28R-08 TCGA-F7-A50J-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77490fcd-b6c5-4542-b0c4-7fe1c73a0e94 e7eccbde-9533-47b0-b735-b0f7a3fdf2b6 g.chr15:76183295C>T ENST00000267938.4 + 11 1351 c.969C>T c.(967-969)atC>atT p.I323I UBE2Q2_ENST00000569423.1_Silent_p.I288I|UBE2Q2_ENST00000338677.4_Intron|UBE2Q2_ENST00000561851.1_Silent_p.I307I NM_173469.2 NP_775740.1 Q8WVN8 UB2Q2_HUMAN ubiquitin-conjugating enzyme E2Q family member 2 323 protein K48-linked ubiquitination cytoplasm ATP binding|ubiquitin-protein ligase activity endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2) 12 AATCGGTCATCATGCAAATAA 0.388000 9 57 0 0 1 0 0 HLA-A 3105 broad.mit.edu 37 6 29910357 29910357 + Silent SNP C C G TCGA-F7-A50J-01A-21D-A28R-08 TCGA-F7-A50J-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77490fcd-b6c5-4542-b0c4-7fe1c73a0e94 e7eccbde-9533-47b0-b735-b0f7a3fdf2b6 g.chr6:29910357C>G ENST00000396634.1 + 3 368 c.27C>G c.(25-27)ctC>ctG p.L9L HLA-A_ENST00000376802.2_Silent_p.L9L|HLA-A_ENST00000376809.5_Silent_p.L9L|HLA-A_ENST00000376806.5_Silent_p.L9L P30443 1A01_HUMAN major histocompatibility complex, class I, A 9 antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway integral to plasma membrane|MHC class I protein complex MHC class I receptor activity central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 30 CCCGAACCCTCCTCCTGCTAC 0.692000 Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of Multiple Myeloma(9;0.094) 19 99 0 0 1 0 0 SLC5A5 6528 broad.mit.edu 37 19 17999159 17999159 + Nonsense_Mutation SNP C C T TCGA-F7-A50J-01A-21D-A28R-08 TCGA-F7-A50J-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77490fcd-b6c5-4542-b0c4-7fe1c73a0e94 e7eccbde-9533-47b0-b735-b0f7a3fdf2b6 g.chr19:17999159C>T ENST00000222248.3 + 13 1893 c.1546C>T c.(1546-1548)Cga>Tga p.R516* NM_000453.2 NP_000444.1 Q92911 SC5A5_HUMAN solute carrier family 5 (sodium/iodide cotransporter), member 5 516 cellular nitrogen compound metabolic process|cellular response to cAMP|cellular response to gonadotropin stimulus|hormone biosynthetic process integral to membrane|nucleus|plasma membrane iodide transmembrane transporter activity|sodium:iodide symporter activity NS(2)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|skin(3) 31 GGACGCCAGCCGACCCGCCTT 0.577000 26 160 0 0 1 0 0 FASN 2194 broad.mit.edu 37 17 80041239 80041239 + Missense_Mutation SNP C C T TCGA-F7-A50J-01A-21D-A28R-08 TCGA-F7-A50J-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77490fcd-b6c5-4542-b0c4-7fe1c73a0e94 e7eccbde-9533-47b0-b735-b0f7a3fdf2b6 g.chr17:80041239C>T ENST00000306749.2 - 32 5622 c.5404G>A c.(5404-5406)Gag>Aag p.E1802K NM_004104.4 NP_004095.4 P49327 FAS_HUMAN fatty acid synthase 1802 Enoyl reductase (By similarity). energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process cytosol|Golgi apparatus|melanosome|plasma membrane 3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1) 34 all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246) OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237) Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339) GCACTGCTCTCGTTGAAGAAC 0.642000 8 60 0 0 1 0 0 AMPD3 272 broad.mit.edu 37 11 10500162 10500162 + Missense_Mutation SNP C C T TCGA-F7-A50J-01A-21D-A28R-08 TCGA-F7-A50J-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77490fcd-b6c5-4542-b0c4-7fe1c73a0e94 e7eccbde-9533-47b0-b735-b0f7a3fdf2b6 g.chr11:10500162C>T ENST00000396554.3 + 3 679 c.338C>T c.(337-339)cCg>cTg p.P113L AMPD3_ENST00000444303.2_Intron NM_000480.2 NP_000471.1 Q01432 AMPD3_HUMAN adenosine monophosphate deaminase 3 104 AMP catabolic process|purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage cytosol AMP deaminase activity|metal ion binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(3)|skin(1) 25 all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291) GCAGCCAGTCCGGCCATGTCT 0.592000 34 324 0 0 1 0 0 BRCA1 672 broad.mit.edu 37 17 41209136 41209136 + Missense_Mutation SNP C C G TCGA-F7-A50J-01A-21D-A28R-08 TCGA-F7-A50J-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77490fcd-b6c5-4542-b0c4-7fe1c73a0e94 e7eccbde-9533-47b0-b735-b0f7a3fdf2b6 g.chr17:41209136C>G ENST00000309486.4 - 18 5349 c.4322G>C c.(4321-4323)aGa>aCa p.R1441T BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000357654.3_Missense_Mutation_p.R1737T|BRCA1_ENST00000352993.3_Missense_Mutation_p.R595T|BRCA1_ENST00000354071.3_Missense_Mutation_p.R1472T|BRCA1_ENST00000591534.1_Missense_Mutation_p.R228T|BRCA1_ENST00000493795.1_Missense_Mutation_p.R1690T|BRCA1_ENST00000468300.1_Missense_Mutation_p.R633T|BRCA1_ENST00000351666.3_Missense_Mutation_p.R554T|BRCA1_ENST00000346315.3_Missense_Mutation_p.R1498T|BRCA1_ENST00000491747.2_Missense_Mutation_p.R633T|BRCA1_ENST00000586385.1_Missense_Mutation_p.R47T|BRCA1_ENST00000471181.2_Missense_Mutation_p.R1758T NM_007297.3 NP_009228.2 P38398 BRCA1_HUMAN breast cancer 1, early onset 1737 androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2) 120 Breast(137;0.000717) BRCA - Breast invasive adenocarcinoma(366;0.126) CACATCTCCTCTGACTTCAAA 0.433000 """D, Mis, N, F, S""" ovarian """breast, ovarian""" Homologous recombination Hereditary Breast-Ovarian Cancer, BRCA1 type TCGA Ovarian(2;0.000030) 18 123 0 0 1 0 0 ALG9 79796 broad.mit.edu 37 11 111749847 111749847 + Missense_Mutation SNP G G C TCGA-F7-A50J-01A-21D-A28R-08 TCGA-F7-A50J-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77490fcd-b6c5-4542-b0c4-7fe1c73a0e94 e7eccbde-9533-47b0-b735-b0f7a3fdf2b6 g.chr11:111749847G>C ENST00000524880.1 - 1 302 c.10C>G c.(10-12)Cgg>Ggg p.R4G C11orf1_ENST00000528125.1_Intron|FDXACB1_ENST00000260257.4_Missense_Mutation_p.R4G Q9H6U8 ALG9_HUMAN ALG9, alpha-1,2-mannosyltransferase 0 dolichol-linked oligosaccharide biosynthetic process|GPI anchor biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine integral to membrane|intrinsic to endoplasmic reticulum membrane alpha-1,2-mannosyltransferase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 16 all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425) Epithelial(105;6.81e-07)|BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|all cancers(92;1.3e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0587) AGGAGGCGCCGAGGGGCCATG 0.637000 OREG0010943|OREG0021330 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)|type=TRANSCRIPTION FACTOR BINDING SITE|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip); Conservation found by scanning with a motif model 4 60 0 0 1 0 0 PSMA6 5687 broad.mit.edu 37 14 35778161 35778161 + Silent SNP G G A TCGA-F7-A50J-01A-21D-A28R-08 TCGA-F7-A50J-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77490fcd-b6c5-4542-b0c4-7fe1c73a0e94 e7eccbde-9533-47b0-b735-b0f7a3fdf2b6 g.chr14:35778161G>A ENST00000261479.4 + 3 333 c.213G>A c.(211-213)aaG>aaA p.K71K PSMA6_ENST00000540871.1_Silent_p.K52K|PSMA6_ENST00000556506.1_Silent_p.K71K|PSMA6_ENST00000555764.1_5'UTR|PSMA6_ENST00000553809.1_Silent_p.K71K|KIAA0391_ENST00000557565.1_3'UTR NM_002791.1 NP_002782.1 P60900 PSA6_HUMAN proteasome (prosome, macropain) subunit, alpha type, 6 71 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction mitochondrion|nuclear matrix|polysome|proteasome core complex, alpha-subunit complex|sarcomere NF-kappaB binding|purine ribonucleoside triphosphate binding|RNA binding|threonine-type endopeptidase activity kidney(2)|large_intestine(1)|lung(5)|prostate(1)|urinary_tract(1) 10 Breast(36;0.0519)|Hepatocellular(127;0.158) Lung(238;3.81e-05)|LUAD - Lung adenocarcinoma(48;5.59e-05)|Epithelial(34;0.00342)|all cancers(34;0.00973) GBM - Glioblastoma multiforme(112;0.0234) ACTTATTCAAGATAACTGAAA 0.299000 6 86 0 0 1 0 0 ATAD5 79915 broad.mit.edu 37 17 29161710 29161710 + Missense_Mutation SNP A A C TCGA-F7-A50J-01A-21D-A28R-08 TCGA-F7-A50J-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77490fcd-b6c5-4542-b0c4-7fe1c73a0e94 e7eccbde-9533-47b0-b735-b0f7a3fdf2b6 g.chr17:29161710A>C ENST00000321990.4 + 2 989 c.611A>C c.(610-612)aAg>aCg p.K204T CTD-2349P21.11_ENST00000580873.1_RNA NM_024857.3 NP_079133.3 Q96QE3 ATAD5_HUMAN ATPase family, AAA domain containing 5 204 response to DNA damage stimulus nucleus ATP binding|nucleoside-triphosphatase activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1) 51 all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393) GACTTCAAAAAGTTGAGAAAA 0.323000 5 100 0 0 1 0 0 GCFC2 6936 broad.mit.edu 37 2 75929421 75929421 + Missense_Mutation SNP C C T TCGA-F7-A50J-01A-21D-A28R-08 TCGA-F7-A50J-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77490fcd-b6c5-4542-b0c4-7fe1c73a0e94 e7eccbde-9533-47b0-b735-b0f7a3fdf2b6 g.chr2:75929421C>T ENST00000321027.3 - 3 656 c.523G>A c.(523-525)Gaa>Aaa p.E175K GCFC2_ENST00000409857.3_Intron|GCFC2_ENST00000541687.1_Missense_Mutation_p.E175K|GCFC2_ENST00000470503.1_Missense_Mutation_p.E175K NM_001201334.1|NM_003203.4 NP_001188263.1|NP_003194.3 P16383 GCF_HUMAN GC-rich sequence DNA-binding factor 2 175 negative regulation of transcription, DNA-dependent nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity GGGTCATCTTCGCTCTCTCTC 0.453000 24 67 0 0 1 0 0 PJA2 9867 broad.mit.edu 37 5 108714761 108714761 + Missense_Mutation SNP C C T TCGA-F7-A50J-01A-21D-A28R-08 TCGA-F7-A50J-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77490fcd-b6c5-4542-b0c4-7fe1c73a0e94 e7eccbde-9533-47b0-b735-b0f7a3fdf2b6 g.chr5:108714761C>T ENST00000361189.2 - 4 666 c.427G>A c.(427-429)Gag>Aag p.E143K PJA2_ENST00000361557.3_Missense_Mutation_p.E143K NM_014819.4 NP_055634.3 O43164 PJA2_HUMAN praja ring finger 2, E3 ubiquitin protein ligase 143 long-term memory|regulation of protein kinase A signaling cascade cell junction|endoplasmic reticulum membrane|Golgi membrane|postsynaptic density|postsynaptic membrane ligase activity|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|zinc ion binding endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 21 all_cancers(142;4.4e-06)|all_epithelial(76;8.17e-08)|Prostate(80;0.00676)|Lung NSC(167;0.0436)|Ovarian(225;0.0443)|all_lung(232;0.053)|Colorectal(57;0.0946)|Breast(839;0.151) OV - Ovarian serous cystadenocarcinoma(64;3.46e-10)|Epithelial(69;6.02e-09)|COAD - Colon adenocarcinoma(37;0.224) TACTCTCCCTCAGAGTGATTA 0.428000 12 53 0 0 1 0 0 IMPG2 50939 broad.mit.edu 37 3 100964680 100964680 + Silent SNP C C T TCGA-F7-A50J-01A-21D-A28R-08 TCGA-F7-A50J-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77490fcd-b6c5-4542-b0c4-7fe1c73a0e94 e7eccbde-9533-47b0-b735-b0f7a3fdf2b6 g.chr3:100964680C>T ENST00000193391.7 - 12 1696 c.1509G>A c.(1507-1509)gaG>gaA p.E503E NM_016247.3 NP_057331.2 Q9BZV3 IMPG2_HUMAN interphotoreceptor matrix proteoglycan 2 503 visual perception integral to membrane|proteinaceous extracellular matrix extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 64 AAGTCCTTTCCTCAGAAGCCA 0.473000 5 190 0 0 1 0 0 CCDC144A 9720 broad.mit.edu 37 17 16593777 16593777 + Silent SNP C C T TCGA-F7-A50J-01A-21D-A28R-08 TCGA-F7-A50J-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77490fcd-b6c5-4542-b0c4-7fe1c73a0e94 e7eccbde-9533-47b0-b735-b0f7a3fdf2b6 g.chr17:16593777C>T ENST00000443444.2 + 1 203 c.63C>T c.(61-63)taC>taT p.Y21Y CCDC144A_ENST00000456009.1_Silent_p.Y21Y|CCDC144A_ENST00000436374.1_3'UTR|RP11-219A15.1_ENST00000448331.3_Silent_p.Y21Y|CCDC144A_ENST00000340621.5_Silent_p.Y21Y|CCDC144A_ENST00000399273.1_Silent_p.Y21Y|CCDC144A_ENST00000360524.8_Silent_p.Y21Y A2RUR9 C144A_HUMAN coiled-coil domain containing 144A 21 CGGCAGTCTACGCCACGAGGA 0.667000 8 31 0 0 1 0 0 SOST 50964 broad.mit.edu 37 17 41832885 41832885 + Missense_Mutation SNP G G A TCGA-F7-A50J-01A-21D-A28R-08 TCGA-F7-A50J-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77490fcd-b6c5-4542-b0c4-7fe1c73a0e94 e7eccbde-9533-47b0-b735-b0f7a3fdf2b6 g.chr17:41832885G>A ENST00000301691.2 - 2 513 c.467C>T c.(466-468)gCg>gTg p.A156V NM_025237.2 NP_079513.1 Q9BQB4 SOST_HUMAN sclerostin 156 CTCK. negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of ossification|negative regulation of protein complex assembly|negative regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway heparin binding|protein binding large_intestine(2)|lung(3)|prostate(1) 6 Breast(137;0.00725) UCEC - Uterine corpus endometrioid carcinoma (308;0.177)|BRCA - Breast invasive adenocarcinoma(366;0.0741) CACCTTGCGCGCGCGCGGCGC 0.711000 9 49 0 0 1 0 0 DDX11 1663 broad.mit.edu 37 12 31256665 31256665 + Splice_Site SNP G G A TCGA-F7-A50J-01A-21D-A28R-08 TCGA-F7-A50J-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77490fcd-b6c5-4542-b0c4-7fe1c73a0e94 e7eccbde-9533-47b0-b735-b0f7a3fdf2b6 g.chr12:31256665G>A ENST00000407793.2 + 26 2937 c.2686_splice c.e26+1 p.V896_splice DDX11_ENST00000545668.1_Splice_Site_p.V896_splice|DDX11_ENST00000542838.1_Splice_Site_p.K897_splice|DDX11_ENST00000228264.6_Splice_Site_p.K871_splice|DDX11_ENST00000251758.5_3'UTR|DDX11_ENST00000350437.4_Splice_Site_p.K847_splice NM_030653.3|NM_152438.1 NP_085911.2|NP_689651.1 Q96FC9 DDX11_HUMAN DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11 896 G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitotic sister chromatid segregation|positive regulation of cell proliferation|S phase of mitotic cell cycle|sister chromatid cohesion midbody|nuclear chromatin|nucleolus|spindle pole ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|RNA binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 57 all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233) CTGTGCAGAAGGTCAGTCCTA 0.597000 Multiple Myeloma(12;0.14) 39 108 0 0 1 0 0 RBBP7 5931 broad.mit.edu 37 X 16887242 16887242 + Nonsense_Mutation SNP G G A TCGA-F7-A50J-01A-21D-A28R-08 TCGA-F7-A50J-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77490fcd-b6c5-4542-b0c4-7fe1c73a0e94 e7eccbde-9533-47b0-b735-b0f7a3fdf2b6 g.chrX:16887242G>A ENST00000380087.2 - 2 478 c.118C>T c.(118-120)Cag>Tag p.Q40* RBBP7_ENST00000404022.1_Nonsense_Mutation_p.Q40*|RBBP7_ENST00000380084.4_Nonsense_Mutation_p.Q84* Q16576 RBBP7_HUMAN retinoblastoma binding protein 7 40 cell proliferation|cellular heat acclimation|CenH3-containing nucleosome assembly at centromere|DNA replication|multicellular organismal development|negative regulation of cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent ESC/E(Z) complex|NuRD complex protein binding biliary_tract(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(2)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 25 Hepatocellular(33;0.0997) CTGGGCCACTGAAGAGCATGG 0.398000 15 87 0 0 1 0 0 ZFYVE16 9765 broad.mit.edu 37 5 79752906 79752906 + Missense_Mutation SNP G G C TCGA-F7-A50J-01A-21D-A28R-08 TCGA-F7-A50J-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77490fcd-b6c5-4542-b0c4-7fe1c73a0e94 e7eccbde-9533-47b0-b735-b0f7a3fdf2b6 g.chr5:79752906G>C ENST00000338008.5 + 13 4118 c.3938G>C c.(3937-3939)aGa>aCa p.R1313T ZFYVE16_ENST00000510158.1_Missense_Mutation_p.R1313T|ZFYVE16_ENST00000505560.1_Missense_Mutation_p.R1313T NM_014733.3 NP_055548.3 Q7Z3T8 ZFY16_HUMAN zinc finger, FYVE domain containing 16 1313 BMP signaling pathway|endosome transport|protein targeting to lysosome|regulation of endocytosis|vesicle organization early endosome membrane 1-phosphatidylinositol binding|metal ion binding|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|protein transporter activity breast(4)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|liver(1)|lung(6)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 51 Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261) OV - Ovarian serous cystadenocarcinoma(54;1.6e-46)|Epithelial(54;2.02e-41)|all cancers(79;5.05e-36) GGCCATCCTAGAAAAGGTGAG 0.368000 4 46 0 0 1 0 0 METTL25 84190 broad.mit.edu 37 12 82752438 82752438 + Missense_Mutation SNP T T A TCGA-F7-A50J-01A-21D-A28R-08 TCGA-F7-A50J-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77490fcd-b6c5-4542-b0c4-7fe1c73a0e94 e7eccbde-9533-47b0-b735-b0f7a3fdf2b6 g.chr12:82752438T>A ENST00000248306.3 + 1 163 c.94T>A c.(94-96)Tcc>Acc p.S32T CCDC59_ENST00000548126.1_Intron|METTL25_ENST00000547357.1_3'UTR|CCDC59_ENST00000256151.7_5'UTR NM_032230.2 NP_115606.2 methyltransferase like 25 GGATGCCCTGTCCATTTCCAA 0.612000 OREG0022008 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 39 97 0 0 1 0 0 GCNT2 2651 broad.mit.edu 37 6 10557019 10557019 + Missense_Mutation SNP C C G rs55910733 TCGA-F7-A50J-01A-21D-A28R-08 TCGA-F7-A50J-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77490fcd-b6c5-4542-b0c4-7fe1c73a0e94 e7eccbde-9533-47b0-b735-b0f7a3fdf2b6 g.chr6:10557019C>G ENST00000316170.3 + 1 780 c.363C>G c.(361-363)atC>atG p.I121M GCNT2_ENST00000410107.1_Intron|GCNT2_ENST00000495262.1_Intron|GCNT2_ENST00000379597.3_Intron|GCNT2_ENST00000397423.2_Intron NM_001491.2 NP_001482.1 Q8N0V5 GNT2A_HUMAN glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group) 123 Golgi membrane|integral to membrane N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(2) 12 Ovarian(93;0.107)|Breast(50;0.148) all_hematologic(90;0.107) KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119) CCCAAAATATCTACTGTGTTC 0.418000 14 83 0 0 1 0 0 EMR3 84658 broad.mit.edu 37 19 14748918 14748918 + Splice_Site SNP G G T rs149254238 TCGA-F7-A50J-01A-21D-A28R-08 TCGA-F7-A50J-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77490fcd-b6c5-4542-b0c4-7fe1c73a0e94 e7eccbde-9533-47b0-b735-b0f7a3fdf2b6 g.chr19:14748918G>T ENST00000253673.5 - 11 1583 c.1484_splice c.e11+1 p.R495_splice EMR3_ENST00000443157.2_Splice_Site_p.R369_splice|EMR3_ENST00000599900.1_Splice_Site_p.R280_splice|EMR3_ENST00000344373.4_Splice_Site_p.R443_splice NM_032571.3 NP_115960.2 Q9BY15 EMR3_HUMAN egf-like module containing, mucin-like, hormone receptor-like 3 495 neuropeptide signaling pathway extracellular space|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity p.R495*(1) NS(1)|autonomic_ganglia(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(14)|ovary(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 50 CAAGCTCACCGATCAGCAGTT 0.498000 7 109 5.18039e-06 5.44492e-06 1 1 0 ATRNL1 26033 broad.mit.edu 37 10 117278774 117278774 + Splice_Site SNP T T A TCGA-F7-A50J-01A-21D-A28R-08 TCGA-F7-A50J-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77490fcd-b6c5-4542-b0c4-7fe1c73a0e94 e7eccbde-9533-47b0-b735-b0f7a3fdf2b6 g.chr10:117278774T>A ENST00000355044.3 + 25 3782 c.3654_splice c.e25-1 p.I1219_splice ATRNL1_ENST00000423111.2_Splice_Site_p.I270_splice|ATRNL1_ENST00000303745.7_Splice_Site_p.I12_splice NM_207303.2 NP_997186.1 Q5VV63 ATRN1_HUMAN attractin-like 1 1219 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) ATTTTTCAGATTGCATTCTCA 0.313000 7 9 0 0 1 0 0 PENK 5179 broad.mit.edu 37 8 57358464 57358464 + Missense_Mutation SNP C C T rs10711116 TCGA-F7-A50J-01A-21D-A28R-08 TCGA-F7-A50J-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77490fcd-b6c5-4542-b0c4-7fe1c73a0e94 e7eccbde-9533-47b0-b735-b0f7a3fdf2b6 g.chr8:57358464C>T ENST00000314922.3 - 1 125 c.49G>A c.(49-51)Ggg>Agg p.G17R PENK_ENST00000523051.1_Missense_Mutation_p.G17R|PENK_ENST00000451791.2_Missense_Mutation_p.G17R|RP11-17A4.2_ENST00000518662.1_RNA|PENK_ENST00000518770.1_Missense_Mutation_p.G17R NM_006211.3 NP_006202.1 P01210 PENK_HUMAN proenkephalin 17 neuropeptide signaling pathway extracellular region neuropeptide hormone activity|opioid peptide activity central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(2) 21 all_lung(136;0.229) Epithelial(17;0.000873)|all cancers(17;0.0069) GCCAGGAGCCCGGGGCCGAGC 0.667000 20 66 0 0 1 0 0 IFNA2 3440 broad.mit.edu 37 9 21384911 21384911 + Silent SNP G G A TCGA-F7-A50J-01A-21D-A28R-08 TCGA-F7-A50J-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77490fcd-b6c5-4542-b0c4-7fe1c73a0e94 e7eccbde-9533-47b0-b735-b0f7a3fdf2b6 g.chr9:21384911G>A ENST00000380206.2 - 1 485 c.418C>T c.(418-420)Ctg>Ttg p.L140L NM_000605.3 NP_000596.2 P01563 IFNA2_HUMAN interferon, alpha 2 140 blood coagulation|cell-cell signaling|induction of apoptosis|inflammatory response|negative regulation of interleukin-13 secretion|negative regulation of interleukin-5 secretion|negative regulation of T cell differentiation|negative regulation of T-helper 2 cell cytokine production|negative regulation of transcription, DNA-dependent|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway extracellular space cytokine activity|interferon-alpha/beta receptor binding breast(2)|large_intestine(4)|lung(6)|upper_aerodigestive_tract(1) 13 Lung(24;7.66e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.0173) Interferon Alfa-2a, Recombinant(DB00034)|Interferon Alfa-2b, Recombinant(DB00105)|Interferon alfa-n1(DB00011)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022) CTCACAGCCAGAATGGAGTCC 0.488000 26 176 0 0 1 0 0 TRIM9 114088 broad.mit.edu 37 14 51561606 51561606 + Missense_Mutation SNP G G A TCGA-F7-A50J-01A-21D-A28R-08 TCGA-F7-A50J-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77490fcd-b6c5-4542-b0c4-7fe1c73a0e94 e7eccbde-9533-47b0-b735-b0f7a3fdf2b6 g.chr14:51561606G>A ENST00000298355.3 - 1 1173 c.52C>T c.(52-54)Cgg>Tgg p.R18W TRIM9_ENST00000338969.5_Missense_Mutation_p.R18W|TRIM9_ENST00000360392.4_Missense_Mutation_p.R18W NM_015163.5 NP_055978.4 Q9C026 TRIM9_HUMAN tripartite motif containing 9 18 proteasomal ubiquitin-dependent protein catabolic process cell junction|cytoskeleton|dendrite|synaptic vesicle protein homodimerization activity|ubiquitin-protein ligase activity|zinc ion binding breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 all_epithelial(31;0.00418)|Breast(41;0.148) ATGGGCTCCCGATAGAAGGAG 0.627000 4 31 0 0 1 0 0 PCDHAC2 56134 broad.mit.edu 37 5 140347000 140347000 + Missense_Mutation SNP C C T TCGA-F7-A50J-01A-21D-A28R-08 TCGA-F7-A50J-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77490fcd-b6c5-4542-b0c4-7fe1c73a0e94 e7eccbde-9533-47b0-b735-b0f7a3fdf2b6 g.chr5:140347000C>T ENST00000289269.5 + 1 1181 c.649C>T c.(649-651)Cgg>Tgg p.R217W PCDHAC1_ENST00000253807.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Intron NM_018899.5|NM_031883.2 NP_061722.1|NP_114089.1 Q9Y5I4 PCDC2_HUMAN 217 Cadherin 2. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 45 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGGCCTAGACCGGGAGCAGGC 0.627000 7 55 0 0 1 0 0 POLR3E 55718 broad.mit.edu 37 16 22337506 22337506 + Missense_Mutation SNP C C G TCGA-F7-A50J-01A-21D-A28R-08 TCGA-F7-A50J-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77490fcd-b6c5-4542-b0c4-7fe1c73a0e94 e7eccbde-9533-47b0-b735-b0f7a3fdf2b6 g.chr16:22337506C>G ENST00000299853.5 + 18 1940 c.1773C>G c.(1771-1773)agC>agG p.S591R POLR3E_ENST00000418581.2_Missense_Mutation_p.S555R|POLR3E_ENST00000564209.1_Missense_Mutation_p.S591R|POLR3E_ENST00000359210.4_Missense_Mutation_p.S591R NM_001258033.1|NM_001258035.1|NM_018119.3 NP_001244962.1|NP_001244964.1|NP_060589.1 Q9NVU0 RPC5_HUMAN polymerase (RNA) III (DNA directed) polypeptide E (80kD) 591 innate immune response|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter nucleoplasm DNA-directed RNA polymerase activity central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 GBM - Glioblastoma multiforme(48;0.012) ACTTGGCCAGCCTGCCCCCCG 0.602000 7 38 0 0 1 0 0 LPA 4018 broad.mit.edu 37 6 160999616 160999616 + Silent SNP C C A TCGA-F7-A50J-01A-21D-A28R-08 TCGA-F7-A50J-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77490fcd-b6c5-4542-b0c4-7fe1c73a0e94 e7eccbde-9533-47b0-b735-b0f7a3fdf2b6 g.chr6:160999616C>A ENST00000447678.1 - 28 4530 c.4410G>T c.(4408-4410)tcG>tcT p.S1470S LPA_ENST00000316300.5_Silent_p.S1470S NM_005577.2 NP_005568.2 P08519 APOA_HUMAN lipoprotein, Lp(a) 3978 Kringle 13. blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis plasma lipoprotein particle apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1) 107 Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965) OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06) Aminocaproic Acid(DB00513) TGAGGACACTCGATTCTGTCA 0.507000 22 105 1.66031e-10 1.79866e-10 1 1 0 TLR8 51311 broad.mit.edu 37 X 12938750 12938750 + Missense_Mutation SNP C C T TCGA-F7-A50J-01A-21D-A28R-08 TCGA-F7-A50J-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77490fcd-b6c5-4542-b0c4-7fe1c73a0e94 e7eccbde-9533-47b0-b735-b0f7a3fdf2b6 g.chrX:12938750C>T ENST00000218032.6 + 2 1678 c.1591C>T c.(1591-1593)Cat>Tat p.H531Y TLR8_ENST00000311912.5_Missense_Mutation_p.H549Y NM_138636.4 NP_619542.1 Q9NR97 TLR8_HUMAN toll-like receptor 8 531 cellular response to mechanical stimulus|defense response to virus|I-kappaB kinase/NF-kappaB cascade|immunoglobulin mediated immune response|inflammatory response|innate immune response|positive regulation of innate immune response|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process endosome membrane DNA binding|double-stranded RNA binding|single-stranded RNA binding|transmembrane receptor activity breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 50 AGCCATTCCTCATGTCAAATA 0.363000 6 43 0 0 1 0 0 LILRP2 79166 broad.mit.edu 37 19 55221559 55221559 + RNA SNP G G T TCGA-F7-A50J-01A-21D-A28R-08 TCGA-F7-A50J-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77490fcd-b6c5-4542-b0c4-7fe1c73a0e94 e7eccbde-9533-47b0-b735-b0f7a3fdf2b6 g.chr19:55221559G>T ENST00000413439.1 + 0 1339 ACGGGGGCCAGTACAGATGCT 0.672000 4 79 3.59834e-05 3.71878e-05 1 1 0 SLCO1B3 28234 broad.mit.edu 37 12 21015380 21015380 + Silent SNP C C A TCGA-F7-A50J-01A-21D-A28R-08 TCGA-F7-A50J-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77490fcd-b6c5-4542-b0c4-7fe1c73a0e94 e7eccbde-9533-47b0-b735-b0f7a3fdf2b6 g.chr12:21015380C>A ENST00000381545.3 + 7 735 c.516C>A c.(514-516)atC>atA p.I172I LST3_ENST00000540229.1_Silent_p.I172I|LST3_ENST00000381541.3_Intron|SLCO1B7_ENST00000554957.1_Intron|SLCO1B3_ENST00000553473.1_Silent_p.I172I|SLCO1B3_ENST00000261196.2_Silent_p.I172I NM_019844.3 NP_062818.1 Q9NPD5 SO1B3_HUMAN solute carrier organic anion transporter family, member 1B3 172 bile acid metabolic process|sodium-independent organic anion transport basolateral plasma membrane|cytoplasm|integral to plasma membrane bile acid transmembrane transporter activity|organic anion transmembrane transporter activity breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2) 63 Esophageal squamous(101;0.149) ACATGTGGATCTATGTCTTCA 0.358000 11 73 0.0167234 0.0168599 1 1 0 SOHLH2 54937 broad.mit.edu 37 13 36776120 36776120 + Silent SNP C C T TCGA-F7-A50J-01A-21D-A28R-08 TCGA-F7-A50J-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77490fcd-b6c5-4542-b0c4-7fe1c73a0e94 e7eccbde-9533-47b0-b735-b0f7a3fdf2b6 g.chr13:36776120C>T ENST00000379881.3 - 2 247 c.159G>A c.(157-159)acG>acA p.T53T CCDC169-SOHLH2_ENST00000511166.1_Silent_p.T130T|SOHLH2_ENST00000317764.6_Silent_p.T53T|SOHLH2_ENST00000554962.1_Silent_p.T130T NM_017826.2 NP_060296.2 spermatogenesis and oogenesis specific basic helix-loop-helix 2 autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184) KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169) all cancers(112;4.63e-08)|Epithelial(112;2.67e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00272)|BRCA - Breast invasive adenocarcinoma(63;0.00685)|GBM - Glioblastoma multiforme(144;0.0273) CTGCCTCCTTCGTGTCACTGA 0.453000 10 79 0 0 1 0 0 AGTPBP1 23287 broad.mit.edu 37 9 88247959 88247959 + Missense_Mutation SNP G G C TCGA-F7-A50J-01A-21D-A28R-08 TCGA-F7-A50J-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77490fcd-b6c5-4542-b0c4-7fe1c73a0e94 e7eccbde-9533-47b0-b735-b0f7a3fdf2b6 g.chr9:88247959G>C ENST00000357081.3 - 14 1777 c.1633C>G c.(1633-1635)Caa>Gaa p.Q545E AGTPBP1_ENST00000432218.1_Missense_Mutation_p.Q383E|AGTPBP1_ENST00000376109.3_Missense_Mutation_p.Q557E|AGTPBP1_ENST00000337006.4_3'UTR|AGTPBP1_ENST00000376083.3_Missense_Mutation_p.Q505E Q9UPW5 CBPC1_HUMAN ATP/GTP binding protein 1 545 C-terminal protein deglutamylation|cerebellar Purkinje cell differentiation|eye photoreceptor cell differentiation|mitochondrion organization|neuromuscular process|olfactory bulb development|protein side chain deglutamylation|proteolysis cytosol|mitochondrion|nucleus metallocarboxypeptidase activity|tubulin binding|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(12)|ovary(5)|skin(2)|urinary_tract(3) 44 GGGGCTGTTTGAGAAGGAATA 0.423000 6 44 0 0 1 0 0 PHF2 5253 broad.mit.edu 37 9 96418829 96418829 + Missense_Mutation SNP G G A TCGA-F7-A50J-01A-21D-A28R-08 TCGA-F7-A50J-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77490fcd-b6c5-4542-b0c4-7fe1c73a0e94 e7eccbde-9533-47b0-b735-b0f7a3fdf2b6 g.chr9:96418829G>A ENST00000359246.4 + 9 1466 c.1099G>A c.(1099-1101)Gaa>Aaa p.E367K PHF2_ENST00000375376.4_Intron NM_005392.3 NP_005383.3 O75151 PHF2_HUMAN PHD finger protein 2 367 liver development|negative regulation of chromatin silencing at rDNA|transcription, DNA-dependent nucleolus histone demethylase activity (H3-K9 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 40 Myeloproliferative disorder(762;0.0255) OV - Ovarian serous cystadenocarcinoma(323;9.11e-28) TCCCAACTTTGAAACTGCGTG 0.552000 19 146 0 0 1 0 0 CDH7 1005 broad.mit.edu 37 18 63525171 63525171 + Missense_Mutation SNP T T A TCGA-F7-A50J-01A-21D-A28R-08 TCGA-F7-A50J-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77490fcd-b6c5-4542-b0c4-7fe1c73a0e94 e7eccbde-9533-47b0-b735-b0f7a3fdf2b6 g.chr18:63525171T>A ENST00000536984.2 + 8 2049 c.1355T>A c.(1354-1356)gTc>gAc p.V452D CDH7_ENST00000323011.3_Missense_Mutation_p.V452D|CDH7_ENST00000397968.2_Missense_Mutation_p.V452D Q9ULB5 CADH7_HUMAN cadherin 7, type 2 452 Cadherin 4. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2) 80 Esophageal squamous(42;0.129) AATATCACAGTCCTTGCAATG 0.408000 11 42 0 0 1 0 0 RORA 6095 broad.mit.edu 37 15 60789691 60789691 + Missense_Mutation SNP G G C TCGA-F7-A50J-01A-21D-A28R-08 TCGA-F7-A50J-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77490fcd-b6c5-4542-b0c4-7fe1c73a0e94 e7eccbde-9533-47b0-b735-b0f7a3fdf2b6 g.chr15:60789691G>C ENST00000335670.6 - 11 1635 c.1535C>G c.(1534-1536)aCt>aGt p.T512S RP11-219B17.1_ENST00000559824.1_RNA|RP11-219B17.1_ENST00000558140.1_RNA|RP11-219B17.1_ENST00000501579.2_RNA|RP11-219B17.1_ENST00000558235.1_RNA|RORA_ENST00000449337.2_Missense_Mutation_p.T457S|RORA_ENST00000261523.5_Missense_Mutation_p.T545S|RORA_ENST00000309157.4_Missense_Mutation_p.T537S NM_134261.2 NP_599023.1 P35398 RORA_HUMAN RAR-related orphan receptor A 545 Ligand-binding. positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 21 AAATTCTGAAGTGAACAACTC 0.358000 3 37 0 0 1 0 0 CTC1 80169 broad.mit.edu 37 17 8131624 8131624 + Silent SNP T T C TCGA-F7-A50J-01A-21D-A28R-08 TCGA-F7-A50J-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77490fcd-b6c5-4542-b0c4-7fe1c73a0e94 e7eccbde-9533-47b0-b735-b0f7a3fdf2b6 g.chr17:8131624T>C ENST00000315684.8 - 23 3535 c.3528A>G c.(3526-3528)ctA>ctG p.L1176L NM_025099.5 NP_079375.3 Q2NKJ3 CTC1_HUMAN CTS telomere maintenance complex component 1 1176 positive regulation of DNA replication|telomere maintenance Stn1-Ten1 complex protein binding|single-stranded DNA binding NS(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|skin(4) 29 GGAATCGCTGTAGCCGAGGAG 0.532000 32 59 0 0 1 0 0 ABCG4 64137 broad.mit.edu 37 11 119020845 119020845 + Nonsense_Mutation SNP C C G TCGA-F7-A50J-01A-21D-A28R-08 TCGA-F7-A50J-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77490fcd-b6c5-4542-b0c4-7fe1c73a0e94 e7eccbde-9533-47b0-b735-b0f7a3fdf2b6 g.chr11:119020845C>G ENST00000307417.3 + 2 534 c.170C>G c.(169-171)tCa>tGa p.S57* ABCG4_ENST00000531739.1_Nonsense_Mutation_p.S57*|ABCG4_ENST00000449422.2_Nonsense_Mutation_p.S57* NM_022169.4 NP_071452.2 Q9H172 ABCG4_HUMAN ATP-binding cassette, sub-family G (WHITE), member 4 57 cholesterol efflux integral to membrane ATP binding|ATPase activity|protein heterodimerization activity|protein homodimerization activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(28)|ovary(2)|prostate(1)|skin(1) 44 all_hematologic(175;0.0977) Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.7e-05) CCCAAGCGCTCAGCCGTGGAC 0.642000 11 128 0 0 1 0 0 NPVF 64111 broad.mit.edu 37 7 25267994 25267994 + Nonsense_Mutation SNP G G C TCGA-F7-A50J-01A-21D-A28R-08 TCGA-F7-A50J-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77490fcd-b6c5-4542-b0c4-7fe1c73a0e94 e7eccbde-9533-47b0-b735-b0f7a3fdf2b6 g.chr7:25267994G>C ENST00000222674.2 - 1 111 c.65C>G c.(64-66)tCa>tGa p.S22* NM_022150.3 NP_071433.3 Q9HCQ7 RFRP_HUMAN neuropeptide VF precursor 22 neuropeptide signaling pathway extracellular region|membrane G-protein coupled receptor activity cervix(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|urinary_tract(1) 15 AAAAATGTTTGATGTTAACAA 0.289000 6 28 0 0 1 0 0 WASH4P 374677 broad.mit.edu 37 16 67035 67035 + Missense_Mutation SNP A A G TCGA-F7-A50J-01A-21D-A28R-08 TCGA-F7-A50J-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77490fcd-b6c5-4542-b0c4-7fe1c73a0e94 e7eccbde-9533-47b0-b735-b0f7a3fdf2b6 g.chr16:67035A>G ENST00000326592.9 - 5 1259 c.601T>C c.(601-603)Ttc>Ctc p.F201L GGGTCCAGGAAGACATACTTC 0.567000 4 28 0 0 1 0 0 PCLO 27445 broad.mit.edu 37 7 82544334 82544334 + Missense_Mutation SNP G G A TCGA-F7-A50J-01A-21D-A28R-08 TCGA-F7-A50J-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77490fcd-b6c5-4542-b0c4-7fe1c73a0e94 e7eccbde-9533-47b0-b735-b0f7a3fdf2b6 g.chr7:82544334G>A ENST00000423517.2 - 7 13305 c.12968C>T c.(12967-12969)gCt>gTt p.A4323V PCLO_ENST00000333891.8_Missense_Mutation_p.A4323V|PCLO_ENST00000437081.1_Missense_Mutation_p.A1043V NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 4254 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 AACATCTAGAGCTTCAGCCTC 0.443000 8 30 0 0 1 0 0 NEGR1 257194 broad.mit.edu 37 1 72400775 72400775 + Missense_Mutation SNP A A C TCGA-F7-A50J-01A-21D-A28R-08 TCGA-F7-A50J-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77490fcd-b6c5-4542-b0c4-7fe1c73a0e94 e7eccbde-9533-47b0-b735-b0f7a3fdf2b6 g.chr1:72400775A>C ENST00000357731.4 - 2 635 c.396T>G c.(394-396)caT>caG p.H132Q NEGR1_ENST00000306821.3_Missense_Mutation_p.H4Q|NEGR1_ENST00000467479.1_5'UTR|NEGR1_ENST00000434200.1_Missense_Mutation_p.H130Q NM_173808.2 NP_776169.2 Q7Z3B1 NEGR1_HUMAN neuronal growth regulator 1 132 Ig-like C2-type 1. cell adhesion anchored to membrane|plasma membrane endometrium(1)|kidney(4)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 32 all_cancers(4;1.26e-06)|Renal(4;1.32e-08)|all_epithelial(4;5.39e-07)|Hepatocellular(141;0.117) KIRC - Kidney renal clear cell carcinoma(4;0.00529)|Kidney(4;0.00609)|all cancers(265;0.022)|GBM - Glioblastoma multiforme(62;0.0382)|Epithelial(280;0.242) GCACAGTTAGATGCACCTGCA 0.393000 4 19 0 0 1 0 0 FGD4 121512 broad.mit.edu 37 12 32777928 32777928 + Missense_Mutation SNP G G A TCGA-F7-A50J-01A-21D-A28R-08 TCGA-F7-A50J-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77490fcd-b6c5-4542-b0c4-7fe1c73a0e94 e7eccbde-9533-47b0-b735-b0f7a3fdf2b6 g.chr12:32777928G>A ENST00000427716.2 + 13 1985 c.1561G>A c.(1561-1563)Gat>Aat p.D521N FGD4_ENST00000546442.1_Missense_Mutation_p.D428N|FGD4_ENST00000534526.2_Missense_Mutation_p.D658N|FGD4_ENST00000531134.1_Missense_Mutation_p.D606N|FGD4_ENST00000525053.1_Missense_Mutation_p.D633N|FGD4_ENST00000266482.3_Missense_Mutation_p.D273N NM_139241.2 NP_640334.2 Q96M96 FGD4_HUMAN FYVE, RhoGEF and PH domain containing 4 521 PH 1. actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction cytoskeleton|cytosol|filopodium|Golgi apparatus|lamellipodium|ruffle metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 27 Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204) AGAAACCATCGATGCTTTTCA 0.308000 11 89 0 0 1 0 0 TKTL1 8277 broad.mit.edu 37 X 153524217 153524217 + Missense_Mutation SNP C C T rs141543964 TCGA-F7-A50J-01A-21D-A28R-08 TCGA-F7-A50J-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77490fcd-b6c5-4542-b0c4-7fe1c73a0e94 e7eccbde-9533-47b0-b735-b0f7a3fdf2b6 g.chrX:153524217C>T ENST00000369915.3 + 1 194 c.5C>T c.(4-6)gCg>gTg p.A2V TKTL1_ENST00000217905.7_5'UTR NM_001145933.1|NM_012253.3 NP_001139405.1|NP_036385.3 P51854 TKTL1_HUMAN transketolase-like 1 2 glucose catabolic process|thiamine metabolic process cytoplasm|nucleus metal ion binding|transketolase activity NS(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(5)|prostate(1)|skin(1)|urinary_tract(2) 34 all_cancers(53;5.05e-16)|all_epithelial(53;1.82e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) GGACTAATGGCGGATGCTGAG 0.597000 46 91 0 0 1 0 0 SPG11 80208 broad.mit.edu 37 15 44951326 44951326 + Silent SNP C C T TCGA-F7-A50J-01A-21D-A28R-08 TCGA-F7-A50J-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77490fcd-b6c5-4542-b0c4-7fe1c73a0e94 e7eccbde-9533-47b0-b735-b0f7a3fdf2b6 g.chr15:44951326C>T ENST00000261866.7 - 3 634 c.618G>A c.(616-618)acG>acA p.T206T SPG11_ENST00000558319.1_Silent_p.T206T|SPG11_ENST00000535302.2_Silent_p.T206T|SPG11_ENST00000427534.2_Silent_p.T206T|SPG11_ENST00000559193.1_Silent_p.T206T NM_025137.3 NP_079413.3 Q96JI7 SPTCS_HUMAN spastic paraplegia 11 (autosomal recessive) 206 cell death cytosol|integral to membrane|nucleus protein binding autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 72 all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122) all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214) TGCAGAGCTGCGTGTCAATAA 0.418000 19 98 0 0 1 0 0 USH2A 7399 broad.mit.edu 37 1 216371768 216371768 + Missense_Mutation SNP T T C TCGA-F7-A50J-01A-21D-A28R-08 TCGA-F7-A50J-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77490fcd-b6c5-4542-b0c4-7fe1c73a0e94 e7eccbde-9533-47b0-b735-b0f7a3fdf2b6 g.chr1:216371768T>C ENST00000366943.2 - 18 4356 c.3970A>G c.(3970-3972)Aca>Gca p.T1324A RP5-1099E6.3_ENST00000420867.1_RNA|USH2A_ENST00000307340.3_Missense_Mutation_p.T1324A|USH2A_ENST00000366942.3_Missense_Mutation_p.T1324A O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 1324 Fibronectin type-III 3. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) GTGATGGTTGTCATTGTTTGA 0.443000 HNSCC(13;0.011) 9 70 0 0 1 0 0 OR4N5 390437 broad.mit.edu 37 14 20612782 20612782 + Silent SNP T T A TCGA-F7-A50J-01A-21D-A28R-08 TCGA-F7-A50J-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77490fcd-b6c5-4542-b0c4-7fe1c73a0e94 e7eccbde-9533-47b0-b735-b0f7a3fdf2b6 g.chr14:20612782T>A ENST00000333629.1 + 1 888 c.888T>A c.(886-888)gcT>gcA p.A296A NM_001004724.1 NP_001004724.1 Q8IXE1 OR4N5_HUMAN olfactory receptor, family 4, subfamily N, member 5 296 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|lung(23)|ovary(1)|skin(2)|urinary_tract(1) 29 all_cancers(95;0.00108) Epithelial(56;7.58e-07)|all cancers(55;3.84e-06) GBM - Glioblastoma multiforme(265;0.0143) AGGTGAAAGCTTCCATGAGGA 0.393000 8 86 0 0 1 0 0 BIRC6 57448 broad.mit.edu 37 2 32640716 32640716 + Nonsense_Mutation SNP C C A TCGA-F7-A50J-01A-21D-A28R-08 TCGA-F7-A50J-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77490fcd-b6c5-4542-b0c4-7fe1c73a0e94 e7eccbde-9533-47b0-b735-b0f7a3fdf2b6 g.chr2:32640716C>A ENST00000421745.2 + 10 2491 c.2357C>A c.(2356-2358)tCa>tAa p.S786* NM_016252.3 NP_057336.3 Q9NR09 BIRC6_HUMAN baculoviral IAP repeat containing 6 786 anti-apoptosis|apoptosis intracellular acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding p.S786*(1)|p.S758*(1) NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5) 172 Acute lymphoblastic leukemia(172;0.155) GAGCTGGAATCAAATCTTGCT 0.368000 12 54 1.5842e-08 1.68663e-08 1 1 0 SLITRK5 26050 broad.mit.edu 37 13 88327663 88327663 + Missense_Mutation SNP C C A rs141503904 TCGA-F7-A50J-01A-21D-A28R-08 TCGA-F7-A50J-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77490fcd-b6c5-4542-b0c4-7fe1c73a0e94 e7eccbde-9533-47b0-b735-b0f7a3fdf2b6 g.chr13:88327663C>A ENST00000325089.6 + 2 239 c.20C>A c.(19-21)cCa>cAa p.P7Q SLITRK5_ENST00000400028.3_Intron NM_015567.1 NP_056382.1 O94991 SLIK5_HUMAN SLIT and NTRK-like family, member 5 7 integral to membrane breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4) 81 all_neural(89;0.101)|Medulloblastoma(90;0.163) TGCTGCCCCCCAGTAACTTTG 0.438000 10 84 1.58986e-06 1.68539e-06 1 1 0 DAPK2 23604 broad.mit.edu 37 15 64231510 64231510 + Silent SNP C C T TCGA-F7-A50J-01A-21D-A28R-08 TCGA-F7-A50J-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77490fcd-b6c5-4542-b0c4-7fe1c73a0e94 e7eccbde-9533-47b0-b735-b0f7a3fdf2b6 g.chr15:64231510C>T ENST00000261891.3 - 4 509 c.504G>A c.(502-504)aaG>aaA p.K168K DAPK2_ENST00000457488.1_Silent_p.K168K|DAPK2_ENST00000558069.1_Silent_p.K168K|DAPK2_ENST00000558482.1_5'UTR Q9UIK4 DAPK2_HUMAN death-associated protein kinase 2 168 Protein kinase. apoptosis|induction of apoptosis|intracellular protein kinase cascade cytoplasm ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|identical protein binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|skin(1)|stomach(1) 11 LUAD - Lung adenocarcinoma(2;0.215) AGTCAATCAGCTTGATGTGTG 0.358000 12 45 0 0 1 0 0 SAMD9 54809 broad.mit.edu 37 7 92731813 92731813 + Missense_Mutation SNP C C G TCGA-F7-A50J-01A-21D-A28R-08 TCGA-F7-A50J-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77490fcd-b6c5-4542-b0c4-7fe1c73a0e94 e7eccbde-9533-47b0-b735-b0f7a3fdf2b6 g.chr7:92731813C>G ENST00000379958.2 - 3 3867 c.3598G>C c.(3598-3600)Gag>Cag p.E1200Q NM_001193307.1|NM_017654.3 NP_001180236.1|NP_060124.2 Q5K651 SAMD9_HUMAN sterile alpha motif domain containing 9 1200 cytoplasm NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 88 all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125) STAD - Stomach adenocarcinoma(171;0.000302) ACTTCTATCTCTCCTTGATAA 0.338000 23 94 0 0 1 0 0 PARP14 54625 broad.mit.edu 37 3 122422803 122422816 + Frame_Shift_Del DEL ATGGTAGCACATCT ATGGTAGCACATCT - TCGA-F7-A50J-01A-21D-A28R-08 TCGA-F7-A50J-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77490fcd-b6c5-4542-b0c4-7fe1c73a0e94 e7eccbde-9533-47b0-b735-b0f7a3fdf2b6 g.chr3:122422803_122422816delATGGTAGCACATCT ENST00000474629.2 + 7 3562_3575 c.3296_3309delATGGTAGCACATCT c.(3295-3309)afs p.NGSTS1099fs NM_017554.2 NP_060024.2 Q460N5 PAR14_HUMAN poly (ADP-ribose) polymerase family, member 14 1099 Macro 2. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane NAD+ ADP-ribosyltransferase activity NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1) 50 GBM - Glioblastoma multiforme(114;0.0531) GAGTGGAGAAATGGTAGCACATCTTCACTCAAGG 0.500 15 121 --- --- --- --- PIK3CA 5290 broad.mit.edu 37 3 178952146 178952147 + Frame_Shift_Ins INS - - A TCGA-F7-A50J-01A-21D-A28R-08 TCGA-F7-A50J-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77490fcd-b6c5-4542-b0c4-7fe1c73a0e94 e7eccbde-9533-47b0-b735-b0f7a3fdf2b6 g.chr3:178952146_178952147insA ENST00000263967.3 + 21 3358_3359 c.3201_3202insA c.(3199-3204)ttactgfs p.L1068fs NM_006218.2 NP_006209.2 P42336 PK3CA_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha 1068 PI3K/PI4K. epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208) 5269 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) AGCATGCATTGAACTGAAAAGA 0.396 57 Mis """colorectal, gastric, gliobastoma, breast""" HNSCC(19;0.045)|TSP Lung(28;0.18) 26 55 --- --- --- --- PCDHGB1 56104 broad.mit.edu 37 5 140730249 140730250 + Frame_Shift_Ins INS - - GTCAG TCGA-F7-A50J-01A-21D-A28R-08 TCGA-F7-A50J-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77490fcd-b6c5-4542-b0c4-7fe1c73a0e94 e7eccbde-9533-47b0-b735-b0f7a3fdf2b6 g.chr5:140730249_140730250insGTCAG ENST00000523390.1 + 1 422_423 c.422_423insGTCAG c.(421-423)gtcfs p.V141fs PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron NM_018922.2|NM_032095.1 NP_061745.1|NP_115266.1 central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1) 16 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GAAATTTGTGAGTCAGCCTTAC 0.406 8 140 --- --- --- --- TMEM184A 202915 broad.mit.edu 37 7 1586662 1586663 + In_Frame_Ins INS - - GCC rs3837151 by1000genomes TCGA-F7-A50J-01A-21D-A28R-08 TCGA-F7-A50J-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77490fcd-b6c5-4542-b0c4-7fe1c73a0e94 e7eccbde-9533-47b0-b735-b0f7a3fdf2b6 g.chr7:1586662_1586663insGCC ENST00000297477.5 - 9 1483_1484 c.1167_1168insGGC c.(1165-1170)ccgcgg>ccGGCgcgg p.389_390PR>PAR NM_001097620.1 NP_001091089.1 Q6ZMB5 T184A_HUMAN transmembrane protein 184A 389 integral to membrane endometrium(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 12 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.88e-15) GAGCCGCCGCTGGGGTGGGTGC 0.703 11 55 --- --- --- --- AC005077.5 0 broad.mit.edu 37 7 75804673 75804673 + RNA DEL A A - TCGA-F7-A50J-01A-21D-A28R-08 TCGA-F7-A50J-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77490fcd-b6c5-4542-b0c4-7fe1c73a0e94 e7eccbde-9533-47b0-b735-b0f7a3fdf2b6 g.chr7:75804673delA ENST00000437494.1 + 0 57 atctcgaaccaaaaaaaaaag 0.542 2 4 --- --- --- --- PLEC 5339 broad.mit.edu 37 8 144993251 144993262 + In_Frame_Del DEL GGCTGCCGCCGC GGCTGCCGCCGC - TCGA-F7-A50J-01A-21D-A28R-08 TCGA-F7-A50J-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77490fcd-b6c5-4542-b0c4-7fe1c73a0e94 e7eccbde-9533-47b0-b735-b0f7a3fdf2b6 g.chr8:144993251_144993262delGGCTGCCGCCGC ENST00000322810.4 - 32 11307_11318 c.11138_11149delGCGGCGGCAGCC c.(11137-11151)gac>g p.GGGSH3713del PLEC_ENST00000357649.2_In_Frame_Del_p.GGGSH3580del|PLEC_ENST00000345136.3_In_Frame_Del_p.GGGSH3576del|PLEC_ENST00000354589.3_In_Frame_Del_p.GGGSH3576del|PLEC_ENST00000527096.1_In_Frame_Del_p.GGGSH3599del|PLEC_ENST00000354958.2_In_Frame_Del_p.GGGSH3554del|PLEC_ENST00000398774.2_In_Frame_Del_p.GGGSH3544del|PLEC_ENST00000436759.2_In_Frame_Del_p.GGGSH3603del|PLEC_ENST00000356346.3_In_Frame_Del_p.GGGSH3562del NM_201380.2 NP_958782.1 Q15149 PLEC_HUMAN plectin 3713 Globular 2. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle p.G3715G(1)|p.G3605G(1)|p.G3578G(1) NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10) 137 GAGCCGCCGTGGCTGCCGCCGCCGGGAATGTC 0.642 30 225 --- --- --- --- FOXD4 2298 broad.mit.edu 37 9 117406 117407 + Frame_Shift_Ins INS - - G TCGA-F7-A50J-01A-21D-A28R-08 TCGA-F7-A50J-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77490fcd-b6c5-4542-b0c4-7fe1c73a0e94 e7eccbde-9533-47b0-b735-b0f7a3fdf2b6 g.chr9:117406_117407insG ENST00000382500.2 - 1 1010_1011 c.713_714insC c.(712-714)cccfs p.P238fs NM_207305.4 NP_997188.2 Q12950 FOXD4_HUMAN forkhead box D4 238 Pro-rich. axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding endometrium(5)|large_intestine(2)|lung(3)|prostate(1)|skin(3) 14 all_lung(41;0.218) all_cancers(5;0.0395)|Acute lymphoblastic leukemia(5;1.91e-07)|all_hematologic(5;1.95e-06) Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157) all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154) CTGGCTGCGGCGGGGCAGGGGC 0.743 7 93 --- --- --- --- FADS3 3995 broad.mit.edu 37 11 61658681 61658681 + Frame_Shift_Del DEL C C - TCGA-F7-A50J-01A-21D-A28R-08 TCGA-F7-A50J-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77490fcd-b6c5-4542-b0c4-7fe1c73a0e94 e7eccbde-9533-47b0-b735-b0f7a3fdf2b6 g.chr11:61658681delC ENST00000540820.1 - 1 245 c.173delG c.(172-174)gcfs p.G58fs FADS3_ENST00000525588.1_Frame_Shift_Del_p.G58fs|FADS3_ENST00000527697.1_Intron|FADS3_ENST00000278829.2_Frame_Shift_Del_p.G58fs|FADS3_ENST00000529525.1_5'UTR Q9Y5Q0 FADS3_HUMAN fatty acid desaturase 3 58 Cytochrome b5 heme-binding. electron transport chain|transport|unsaturated fatty acid biosynthetic process endoplasmic reticulum membrane|integral to membrane|membrane fraction heme binding|oxidoreductase activity, acting on paired donors, with oxidation of a pair of donors resulting in the reduction of molecular oxygen to two molecules of water central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 GAGGCGGCTGCCCCCTGGGTG 0.706 2 4 --- --- --- --- TTC9C 283237 broad.mit.edu 37 11 62496334 62496350 + Frame_Shift_Del DEL TGCAGGAGGCTCAGCTG TGCAGGAGGCTCAGCTG - TCGA-F7-A50J-01A-21D-A28R-08 TCGA-F7-A50J-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77490fcd-b6c5-4542-b0c4-7fe1c73a0e94 e7eccbde-9533-47b0-b735-b0f7a3fdf2b6 g.chr11:62496334_62496350delTGCAGGAGGCTCAGCTG ENST00000513247.2 + 2 665_681 c.413_429delTGCAGGAGGCTCAGCTG c.(412-429)cfs p.LQEAQL138fs TTC9C_ENST00000532583.1_Frame_Shift_Del_p.LQEAQL5fs|TTC9C_ENST00000316461.4_Frame_Shift_Del_p.LQEAQL5fs Q8N5M4 TTC9C_HUMAN tetratricopeptide repeat domain 9C 5 binding breast(1)|endometrium(1)|lung(2)|ovary(1)|pancreas(1) 6 GAGAAGCGTCTGCAGGAGGCTCAGCTGTACAAGGAGG 0.562 9 70 --- --- --- --- LOC101929457 101929457 broad.mit.edu 37 15 77820915 77820915 + RNA DEL G G - TCGA-F7-A50J-01A-21D-A28R-08 TCGA-F7-A50J-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77490fcd-b6c5-4542-b0c4-7fe1c73a0e94 e7eccbde-9533-47b0-b735-b0f7a3fdf2b6 g.chr15:77820915delG ENST00000561283.2 + 0 806 GTGGCCTGGTGGGTGGCCCCA 0.582 2 4 --- --- --- --- MESP2 145873 broad.mit.edu 37 15 90320121 90320144 + In_Frame_Del DEL AGGGGCAGGGGCAAGGGCAGGGGC AGGGGCAGGGGCAAGGGCAGGGGC - rs56192595 TCGA-F7-A50J-01A-21D-A28R-08 TCGA-F7-A50J-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77490fcd-b6c5-4542-b0c4-7fe1c73a0e94 e7eccbde-9533-47b0-b735-b0f7a3fdf2b6 g.chr15:90320121_90320144delAGGGGCAGGGGCAAGGGCAGGGGC ENST00000341735.3 + 1 533_556 c.533_556delAGGGGCAGGGGCAAGGGCAGGGGC c.(532-558)gag>g p.EGQGQGQGQ178del MESP2_ENST00000558723.1_Intron|MESP2_ENST00000560219.1_Intron NM_001039958.1 NP_001035047.1 Q0VG99 MESP2_HUMAN mesoderm posterior 2 homolog (mouse) 178 Notch signaling pathway nucleus DNA binding p.Q198_G205delQGQGQGQG(1) kidney(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1) 6 Lung NSC(78;0.0221)|all_lung(78;0.0448) BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514) ACGCaggcggaggggcaggggcaagggcaggggcaggggcaggg 0.777 4 3 --- --- --- --- RP11-1166P10.6 0 broad.mit.edu 37 16 32077916 32077917 + RNA INS - - TT rs139112308 by1000genomes TCGA-F7-A50J-01A-21D-A28R-08 TCGA-F7-A50J-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77490fcd-b6c5-4542-b0c4-7fe1c73a0e94 e7eccbde-9533-47b0-b735-b0f7a3fdf2b6 g.chr16:32077916_32077917insTT ENST00000566806.1 - 0 499 ATGGAAAACGGTTATTTTTTTG 0.421 2 4 --- --- --- --- DNAH9 1770 broad.mit.edu 37 17 11502116 11502117 + Frame_Shift_Ins INS - - T TCGA-F7-A50J-01A-21D-A28R-08 TCGA-F7-A50J-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77490fcd-b6c5-4542-b0c4-7fe1c73a0e94 e7eccbde-9533-47b0-b735-b0f7a3fdf2b6 g.chr17:11502116_11502117insT ENST00000262442.3 + 1 369_370 c.301_302insT c.(301-303)tttfs p.F101fs DNAH9_ENST00000579406.1_3'UTR|DNAH9_ENST00000454412.2_Frame_Shift_Ins_p.F101fs|DNAH9_ENST00000579828.1_Frame_Shift_Ins_p.F101fs NM_001372.3 NP_001363.2 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 101 Stem (By similarity). cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4) 290 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) CGCTAAGGCGCTTTTTTTCCTT 0.743 2 4 --- --- --- --- AMZ2P1 201283 broad.mit.edu 37 17 62969193 62969193 + RNA DEL A A - TCGA-F7-A50J-01A-21D-A28R-08 TCGA-F7-A50J-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77490fcd-b6c5-4542-b0c4-7fe1c73a0e94 e7eccbde-9533-47b0-b735-b0f7a3fdf2b6 g.chr17:62969193delA ENST00000430983.1 - 0 1290 NR_026903.1 GATATGAATTAAAAAAAAATG 0.328 2 4 --- --- --- --- ZNF17 7565 broad.mit.edu 37 19 57932040 57932043 + Frame_Shift_Del DEL TTCT TTCT - TCGA-F7-A50J-01A-21D-A28R-08 TCGA-F7-A50J-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77490fcd-b6c5-4542-b0c4-7fe1c73a0e94 e7eccbde-9533-47b0-b735-b0f7a3fdf2b6 g.chr19:57932040_57932043delTTCT ENST00000307658.7 + 4 1449_1452 c.1186_1189delTTCT c.(1186-1191)ttfs p.FF396fs AC004076.7_ENST00000597410.1_Intron|ZNF17_ENST00000601808.1_Frame_Shift_Del_p.FF394fs P17021 ZNF17_HUMAN zinc finger protein 17 394 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.0234)|GBM - Glioblastoma multiforme(193;0.000426)|Lung(386;0.176) ATGTGGGAAATTCTTTAGATACCG 0.402 11 86 --- --- --- --- CD99L2 83692 broad.mit.edu 37 X 149984524 149984526 + In_Frame_Del DEL GTG GTG - TCGA-F7-A50J-01A-21D-A28R-08 TCGA-F7-A50J-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77490fcd-b6c5-4542-b0c4-7fe1c73a0e94 e7eccbde-9533-47b0-b735-b0f7a3fdf2b6 g.chrX:149984524_149984526delGTG ENST00000370377.3 - 3 273_275 c.156_158delCAC c.(154-159)aca>ac p.TT52del CD99L2_ENST00000466436.1_Intron|CD99L2_ENST00000355149.3_Intron|CD99L2_ENST00000437787.2_In_Frame_Del_p.TT52del|CD99L2_ENST00000346693.4_5'UTR NM_001242614.1|NM_031462.3 NP_001229543.1|NP_113650.2 Q8TCZ2 C99L2_HUMAN CD99 molecule-like 2 52 Poly-Thr. cell adhesion cell junction|integral to membrane endometrium(4)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|urinary_tract(1) 23 Acute lymphoblastic leukemia(192;6.56e-05) CCTATTGGTTGTGGTGGTGGTGG 0.552 7 270 --- --- --- ---