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 APP 351 broad.mit.edu 37 21 27327992 27327992 + Silent SNP G G A TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr21:27327992G>A ENST00000358918.3 - 12 1735 c.1536C>T c.(1534-1536)ttC>ttT p.F512F APP_ENST00000448388.2_Silent_p.F402F|APP_ENST00000357903.3_Silent_p.F493F|APP_ENST00000359726.3_Silent_p.F456F|APP_ENST00000440126.3_Silent_p.F488F|APP_ENST00000348990.5_Silent_p.F437F|APP_ENST00000354192.3_Silent_p.F381F|APP_ENST00000439274.2_Silent_p.F456F|APP_ENST00000346798.3_Silent_p.F512F NM_001204301.1|NM_001204302.1 NP_001191230.1|NP_001191231.1 P05067 A4_HUMAN amyloid beta (A4) precursor protein 512 Heparin-binding. adult locomotory behavior|axon cargo transport|axon midline choice point recognition|cell adhesion|cellular copper ion homeostasis|collateral sprouting in absence of injury|dendrite development|endocytosis|extracellular matrix organization|G2 phase of mitotic cell cycle|innate immune response|ionotropic glutamate receptor signaling pathway|mating behavior|mRNA polyadenylation|neuron apoptosis|neuron remodeling|Notch signaling pathway|platelet activation|platelet degranulation|positive regulation of mitotic cell cycle|protein phosphorylation|regulation of epidermal growth factor receptor activity|regulation of multicellular organism growth|regulation of synapse structure and activity|regulation of translation|visual learning axon|cell surface|coated pit|dendritic shaft|dendritic spine|extracellular region|Golgi apparatus|integral to plasma membrane|platelet alpha granule lumen acetylcholine receptor binding|DNA binding|heparin binding|identical protein binding|metal ion binding|protein binding|PTB domain binding|serine-type endopeptidase inhibitor activity p.F512F(2) endometrium(5)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 22 Breast(209;0.00295) GCACATGCTCGAAATGCTTTA 0.493000 26 40 0 0 1 0 0 THSD4 79875 broad.mit.edu 37 15 72040905 72040905 + Missense_Mutation SNP G G T TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr15:72040905G>T ENST00000355327.3 + 14 2521 c.2387G>T c.(2386-2388)aGc>aTc p.S796I THSD4_ENST00000357769.4_Missense_Mutation_p.S436I|THSD4_ENST00000261862.6_Missense_Mutation_p.S796I|THSD4_ENST00000567838.1_3'UTR Q6ZMP0 THSD4_HUMAN thrombospondin, type I, domain containing 4 796 TSP type-1 4. proteinaceous extracellular matrix metalloendopeptidase activity breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 TGTGCCAAGAGCTGGTTCCTC 0.572000 7 37 7.48243e-07 9.74602e-07 1 1 0 HK1 3098 broad.mit.edu 37 10 71158462 71158462 + Missense_Mutation SNP G G C TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr10:71158462G>C ENST00000448642.2 + 22 2981 c.2592G>C c.(2590-2592)agG>agC p.R864S HK1_ENST00000360289.2_Missense_Mutation_p.R817S|HK1_ENST00000404387.2_Missense_Mutation_p.R833S|HK1_ENST00000298649.3_Missense_Mutation_p.R828S|HK1_ENST00000359426.6_Missense_Mutation_p.R829S P19367 HXK1_HUMAN hexokinase 1 829 Catalytic. glucose transport|glycolysis|transmembrane transport cytosol|mitochondrial outer membrane|nucleus ATP binding|glucokinase activity breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(1)|urinary_tract(2) 35 TGTCCAGGAGGGCCGCACAGC 0.602000 8 45 0 0 1 0 0 OTOF 9381 broad.mit.edu 37 2 26712109 26712109 + Missense_Mutation SNP T T C TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr2:26712109T>C ENST00000272371.2 - 11 1141 c.1015A>G c.(1015-1017)Atg>Gtg p.M339V OTOF_ENST00000403946.3_Missense_Mutation_p.M339V NM_194248.2 NP_919224.1 Q9HC10 OTOF_HUMAN otoferlin 339 cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane calcium ion binding NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 106 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CCCACGTCCATTTTGAAGGAG 0.622000 5 20 0 0 1 0 0 EAF2 55840 broad.mit.edu 37 3 121591442 121591442 + Missense_Mutation SNP T T A TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr3:121591442T>A ENST00000273668.2 + 5 614 c.543T>A c.(541-543)gaT>gaA p.D181E EAF2_ENST00000451944.2_Missense_Mutation_p.D181E NM_018456.4 NP_060926.2 Q96CJ1 EAF2_HUMAN ELL associated factor 2 181 Necessary for transactivation activity.|Ser-rich. apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear speck protein binding endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|prostate(1) 9 GBM - Glioblastoma multiforme(114;0.0972) GTTCATCAGATTCCAAAAGTT 0.358000 21 106 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7578498 7578498 + Missense_Mutation SNP C C A TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr17:7578498C>A ENST00000420246.2 - 5 564 c.432G>T c.(430-432)caG>caT p.Q144H TP53_ENST00000359597.4_Missense_Mutation_p.Q144H|TP53_ENST00000413465.2_Missense_Mutation_p.Q144H|TP53_ENST00000269305.4_Missense_Mutation_p.Q144H|TP53_ENST00000455263.2_Missense_Mutation_p.Q144H|TP53_ENST00000445888.2_Missense_Mutation_p.Q144H NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 144 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. Q -> H (in sporadic cancers; somatic mutation).|Q -> K (in sporadic cancers; somatic mutation).|Q -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Q -> P (in sporadic cancers; somatic mutation).|Q -> R (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.0?(8)|p.Q144H(4)|p.Q144fs*25(3)|p.Q144del(2)|p.Q144Q(2)|p.Q144_G154del11(1)|p.L137_W146del10(1)|p.Q51fs*25(1)|p.Q144K(1)|p.Q144fs*32(1)|p.Q144fs*16(1)|p.P142_Q144delPVQ(1)|p.Q12fs*25(1)|p.V143_S149del(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) CAACCCACAGCTGCACAGGGC 0.602000 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 13 45 0.00400662 0.00446782 1 1 0 CDH6 1004 broad.mit.edu 37 5 31267710 31267710 + Missense_Mutation SNP A A C TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr5:31267710A>C ENST00000265071.2 + 2 395 c.130A>C c.(130-132)Agc>Cgc p.S44R CDH6_ENST00000514738.1_5'UTR|RP11-152K4.2_ENST00000523584.1_RNA NM_004932.3 NP_004923.1 P55285 CADH6_HUMAN cadherin 6, type 2, K-cadherin (fetal kidney) 44 adherens junction organization|cell junction assembly|homophilic cell adhesion cytoplasm|integral to membrane|nucleus|plasma membrane calcium ion binding NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 77 CTCTGGAAACAGCAAAAATGA 0.488000 29 36 0 0 1 0 0 MIA3 375056 broad.mit.edu 37 1 222828121 222828121 + Missense_Mutation SNP G G T TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr1:222828121G>T ENST00000344922.5 + 18 4618 c.4593G>T c.(4591-4593)gaG>gaT p.E1531D MIA3_ENST00000344441.6_Missense_Mutation_p.E1531D|MIA3_ENST00000344507.1_Intron|MIA3_ENST00000340535.7_Missense_Mutation_p.E409D NM_198551.2 NP_940953.2 Q5JRA6 MIA3_HUMAN melanoma inhibitory activity family, member 3 1531 exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing endoplasmic reticulum membrane|integral to membrane protein binding breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1) 80 GBM - Glioblastoma multiforme(131;0.0199) AGCAGAAGGAGATGGCTTTGC 0.373000 22 38 4.26978e-12 6.45674e-12 1 1 0 MYH2 4620 broad.mit.edu 37 17 10447064 10447064 + Silent SNP G G A TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr17:10447064G>A ENST00000245503.5 - 8 1089 c.705C>T c.(703-705)aaC>aaT p.N235N MYH2_ENST00000397183.2_Silent_p.N235N|CTC-297N7.7_ENST00000587182.1_RNA|MYH2_ENST00000532183.1_Silent_p.N235N NM_017534.5 NP_060004.3 Q9UKX2 MYH2_HUMAN myosin, heavy chain 2, skeletal muscle, adult 235 Myosin head-like. muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4) 176 CGGTCTTGGCGTTGCCAAAGG 0.478000 11 39 0 0 1 0 0 KRAS 3845 broad.mit.edu 37 12 25380196 25380196 + Nonsense_Mutation SNP T T A TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr12:25380196T>A ENST00000311936.3 - 3 453 c.262A>T c.(262-264)Aaa>Taa p.K88* KRAS_ENST00000256078.4_Nonsense_Mutation_p.K88*|KRAS_ENST00000557334.1_Intron NM_004985.3 NP_004976.2 P01116 RASK_HUMAN Kirsten rat sarcoma viral oncogene homolog 88 activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction plasma membrane GTP binding|GTPase activity|protein binding UBE2L3/KRAS(2) NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57) 25349 all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12) OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05) TCAAATGATTTAGTATTATTT 0.348000 119 Mis """pancreatic, colorectal, lung, thyroid, AML, others""" Noonan syndrome;Cardiofaciocutaneous syndrome TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6) 12 39 0 0 1 0 0 C14orf80 283643 broad.mit.edu 37 14 105960174 105960174 + Silent SNP C C T TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr14:105960174C>T ENST00000392523.4 + 5 709 c.588C>T c.(586-588)atC>atT p.I196I C14orf80_ENST00000450383.1_Silent_p.I18I|C14orf80_ENST00000334656.7_Intron|C14orf80_ENST00000354560.6_Intron|C14orf80_ENST00000392522.3_Silent_p.I196I|C14orf80_ENST00000392527.1_Intron|C14orf80_ENST00000551054.1_Intron|C14orf80_ENST00000329886.7_Intron Q86SX3 CN080_HUMAN chromosome 14 open reading frame 80 196 central_nervous_system(1) 1 Melanoma(154;0.226) OV - Ovarian serous cystadenocarcinoma(23;0.00596)|Epithelial(46;0.0188) Epithelial(152;0.239) TGTTTTAGATCCACCTGTACA 0.602000 5 32 0 0 1 0 0 ALDH1L1 10840 broad.mit.edu 37 3 125854472 125854472 + Missense_Mutation SNP C C A TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr3:125854472C>A ENST00000393434.2 - 12 1727 c.1378G>T c.(1378-1380)Gac>Tac p.D460Y ALDH1L1_ENST00000273450.3_Missense_Mutation_p.D470Y|ALDH1L1_ENST00000452905.2_Missense_Mutation_p.D359Y|ALDH1L1_ENST00000393431.2_Missense_Mutation_p.D460Y|ALDH1L1_ENST00000472186.1_Missense_Mutation_p.D460Y NM_012190.3 NP_036322.2 O75891 AL1L1_HUMAN aldehyde dehydrogenase 1 family, member L1 460 Aldehyde dehydrogenase. 10-formyltetrahydrofolate catabolic process|biosynthetic process acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 52 GBM - Glioblastoma multiforme(114;0.0462) Tetrahydrofolic acid(DB00116) TTGTCGACGTCGGTGACTTGG 0.597000 6 50 0.00198382 0.0022282 1 1 0 RTN1 6252 broad.mit.edu 37 14 60074098 60074098 + Silent SNP G G A TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr14:60074098G>A ENST00000267484.5 - 4 2213 c.1878C>T c.(1876-1878)taC>taT p.Y626Y RTN1_ENST00000557422.1_5'UTR|RTN1_ENST00000395090.1_Silent_p.Y43Y|RTN1_ENST00000342503.4_Silent_p.Y58Y NM_021136.2 NP_066959.1 Q16799 RTN1_HUMAN reticulon 1 626 Reticulon. neuron differentiation integral to endoplasmic reticulum membrane signal transducer activity central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1) 49 OV - Ovarian serous cystadenocarcinoma(108;0.0968) CCAGGGCCAGGTAGGCCACGA 0.562000 6 43 0 0 1 0 0 DNM1P46 196968 broad.mit.edu 37 15 100331319 100331319 + RNA SNP G G T TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr15:100331319G>T ENST00000341853.1 - 0 2872 NR_003260.1 AGTGCTCACTGGGATTTTGCT 0.577000 7 73 0.0477658 0.0507102 1 1 0 PHEX 5251 broad.mit.edu 37 X 22244559 22244559 + Splice_Site SNP G G A TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chrX:22244559G>A ENST00000379374.4 + 19 2464 c.e19-1 PHEX_ENST00000537599.1_Splice_Site|PHEX_ENST00000418858.3_Splice_Site|PHEX_ENST00000535894.1_Splice_Site NM_000444.4 NP_000435.3 P78562 PHEX_HUMAN phosphate regulating endopeptidase homolog, X-linked biomineral tissue development|cell-cell signaling|protein modification process|proteolysis|skeletal system development integral to plasma membrane aminopeptidase activity|metalloendopeptidase activity|zinc ion binding breast(1)|cervix(2)|endometrium(2)|large_intestine(12)|liver(1)|lung(19)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 42 CTTTCTGTTAGGTCAAGGGGA 0.393000 9 66 0 0 1 0 0 HCFC1 3054 broad.mit.edu 37 X 153220568 153220568 + Silent SNP G G A TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chrX:153220568G>A ENST00000310441.7 - 17 4248 c.3282C>T c.(3280-3282)gcC>gcT p.A1094A HCFC1_ENST00000354233.3_Silent_p.A1025A|HCFC1_ENST00000369984.4_Silent_p.A1094A NM_005334.2 NP_005325.2 P51610 HCFC1_HUMAN host cell factor C1 (VP16-accessory protein) 1094 cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) TGTtggaggtggcggtggtgg 0.657000 15 53 0 0 1 0 0 RIPK1 8737 broad.mit.edu 37 6 3083425 3083425 + Missense_Mutation SNP C C T TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr6:3083425C>T ENST00000259808.4 + 5 864 c.566C>T c.(565-567)aCc>aTc p.T189I RIPK1_ENST00000541791.1_Missense_Mutation_p.T143I|RIPK1_ENST00000479389.1_3'UTR|RIPK1_ENST00000380409.2_Missense_Mutation_p.T189I Q13546 RIPK1_HUMAN receptor (TNFRSF)-interacting serine-threonine kinase 1 189 Protein kinase. activation of caspase activity|activation of JUN kinase activity|activation of pro-apoptotic gene products|induction of apoptosis by extracellular signals|induction of necroptosis by extracellular signals|innate immune response|MyD88-independent toll-like receptor signaling pathway|positive regulation of anti-apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-8 production|positive regulation of NF-kappaB transcription factor activity|positive regulation of reactive oxygen species metabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|protein autophosphorylation|regulation of ATP:ADP antiporter activity|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|death-inducing signaling complex|endosome membrane|mitochondrion|receptor complex ATP binding|death domain binding|death receptor binding|protein serine/threonine kinase activity breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 23 Ovarian(93;0.0386) all_hematologic(90;0.0895) AATGGCGGCACCCTCTACTAC 0.522000 10 56 0 0 1 0 0 ACSBG1 23205 broad.mit.edu 37 15 78474874 78474874 + Silent SNP G G A TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr15:78474874G>A ENST00000258873.4 - 7 1033 c.828C>T c.(826-828)tgC>tgT p.C276C ACSBG1_ENST00000560817.1_Silent_p.C34C|ACSBG1_ENST00000541759.1_Silent_p.C34C NM_001199377.1|NM_015162.4 NP_001186306.1|NP_055977.3 Q96GR2 ACBG1_HUMAN acyl-CoA synthetase bubblegum family member 1 276 long-chain fatty acid metabolic process|myelination|very long-chain fatty acid metabolic process cytoplasmic membrane-bounded vesicle|endoplasmic reticulum|microsome ATP binding|long-chain fatty acid-CoA ligase activity|very long-chain fatty acid-CoA ligase activity endometrium(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 37 CTAGCACACAGCACTGGTTGG 0.592000 3 32 0 0 1 0 0 OR10G8 219869 broad.mit.edu 37 11 123900657 123900657 + Missense_Mutation SNP G G A TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr11:123900657G>A ENST00000431524.1 + 1 361 c.328G>A c.(328-330)Gag>Aag p.E110K NM_001004464.1 NP_001004464.1 Q8NGN5 O10G8_HUMAN olfactory receptor, family 10, subfamily G, member 8 110 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 44 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521) AGGGGGCACCGAGTGTTTCCT 0.537000 11 96 0 0 1 0 0 RP1 6101 broad.mit.edu 37 8 55538040 55538040 + Missense_Mutation SNP G G T TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr8:55538040G>T ENST00000220676.1 + 4 1746 c.1598G>T c.(1597-1599)aGa>aTa p.R533I NM_006269.1 NP_006260.1 P56715 RP1_HUMAN retinitis pigmentosa 1 (autosomal dominant) 533 axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2) 169 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) TCATTAGAAAGAAAAAAGGAA 0.328000 3 21 1 1 1 1 0 ZNF681 148213 broad.mit.edu 37 19 23926839 23926839 + Missense_Mutation SNP A A G TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr19:23926839A>G ENST00000402377.3 - 4 1654 c.1513T>C c.(1513-1515)Tcc>Ccc p.S505P ZNF681_ENST00000395385.3_Missense_Mutation_p.S436P NM_138286.2 NP_612143.2 Q96N22 ZN681_HUMAN zinc finger protein 681 505 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(3) 21 all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206) CATTTGTAGGATTTCTCTCCA 0.373000 3 70 0 0 1 0 0 OR2T2 401992 broad.mit.edu 37 1 248616171 248616171 + Missense_Mutation SNP C C A TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr1:248616171C>A ENST00000342927.3 + 1 95 c.73C>A c.(73-75)Ccc>Acc p.P25T NM_001004136.1 NP_001004136.1 Q6IF00 OR2T2_HUMAN olfactory receptor, family 2, subfamily T, member 2 25 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1) 37 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) TCCTGCCTTCCCCGGGCTTCT 0.532000 4 149 2.17888e-05 2.7236e-05 1 1 0 ADIPOQ 9370 broad.mit.edu 37 3 186572221 186572221 + Missense_Mutation SNP C C T TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr3:186572221C>T ENST00000412955.2 + 3 604 c.463C>T c.(463-465)Cct>Tct p.P155S ADIPOQ-AS1_ENST00000422718.1_RNA|ADIPOQ_ENST00000320741.2_Missense_Mutation_p.P155S|ADIPOQ_ENST00000444204.2_Missense_Mutation_p.P155S Q15848 ADIPO_HUMAN adiponectin, C1Q and collagen domain containing 155 C1q. brown fat cell differentiation|cellular response to drug|cellular response to insulin stimulus|detection of oxidative stress|fatty acid beta-oxidation|generation of precursor metabolites and energy|glucose homeostasis|glucose metabolic process|low-density lipoprotein particle clearance|negative regulation of blood pressure|negative regulation of DNA biosynthetic process|negative regulation of ERK1 and ERK2 cascade|negative regulation of eukaryotic cell surface binding|negative regulation of fat cell differentiation|negative regulation of gluconeogenesis|negative regulation of granulocyte differentiation|negative regulation of heterotypic cell-cell adhesion|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of inflammatory response|negative regulation of intracellular protein transport|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|negative regulation of macrophage differentiation|negative regulation of MAP kinase activity|negative regulation of phagocytosis|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein autophosphorylation|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell proliferation|negative regulation of synaptic transmission|negative regulation of transcription, DNA-dependent|negative regulation of tumor necrosis factor production|negative regulation of tumor necrosis factor-mediated signaling pathway|positive regulation of cAMP-dependent protein kinase activity|positive regulation of cholesterol efflux|positive regulation of fatty acid metabolic process|positive regulation of glucose import|positive regulation of glycogen (starch) synthase activity|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-8 production|positive regulation of metanephric glomerular visceral epithelial cell development|positive regulation of monocyte chemotactic protein-1 production|positive regulation of myeloid cell apoptosis|positive regulation of protein kinase A signaling cascade|positive regulation of renal albumin absorption|protein homooligomerization|protein localization in plasma membrane|response to glucose stimulus|response to tumor necrosis factor collagen|endoplasmic reticulum|extracellular space cytokine activity|eukaryotic cell surface binding|hormone activity|protein homodimerization activity breast(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|skin(2) 16 all_cancers(143;1.2e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;1.47e-19) GBM - Glioblastoma multiforme(93;0.0776) CTGCAACATTCCTGGGCTGTA 0.443000 8 66 0 0 1 0 0 POLR1A 25885 broad.mit.edu 37 2 86258460 86258460 + Missense_Mutation SNP C C A TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr2:86258460C>A ENST00000263857.6 - 30 4949 c.4571G>T c.(4570-4572)tGg>tTg p.W1524L POLR1A_ENST00000409681.1_Intron O95602 RPA1_HUMAN polymerase (RNA) I polypeptide A, 194kDa 1524 termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter DNA-directed RNA polymerase I complex|nucleoplasm DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 63 GACCTGGCACCACAGGCTCTC 0.657000 33 78 1.07637e-12 1.65185e-12 1 1 0 NUTM2B-AS1 101060691 broad.mit.edu 37 10 81443821 81443821 + RNA SNP C C G rs150975459 by1000genomes TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr10:81443821C>G ENST00000600376.1 - 0 54 RP11-119F19.2_ENST00000596088.1_RNA GCAGCACCATCGCCTCAGACC 0.612000 4 25 0 0 1 0 0 SNHG14 104472715 broad.mit.edu 37 15 25456960 25456960 + RNA SNP C C A TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr15:25456960C>A ENST00000424208.1 + 0 2516 SNORD115-23_ENST00000364461.1_RNA|SNHG14_ENST00000450809.1_RNA|SNHG14_ENST00000424333.1_RNA NR_003305.1 TGATGAGAACCCTATATTGTG 0.522000 38 200 1.8453e-21 3.21372e-21 1 1 0 TMCO6 55374 broad.mit.edu 37 5 140023455 140023455 + Missense_Mutation SNP C C A TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr5:140023455C>A ENST00000394671.3 + 9 1110 c.1009C>A c.(1009-1011)Cgt>Agt p.R337S TMCO6_ENST00000537378.1_Missense_Mutation_p.R97S|NDUFA2_ENST00000510680.1_Intron|TMCO6_ENST00000252100.6_Missense_Mutation_p.R343S NM_018502.3 NP_060972.3 Q96DC7 TMCO6_HUMAN transmembrane and coiled-coil domains 6 337 protein import into nucleus cytoplasm|nuclear pore binding|protein transporter activity breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|urinary_tract(1) 9 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CAGAGATGAGCGTGTTGTGGC 0.537000 23 32 1.66031e-10 2.4278e-10 1 1 0 SI 6476 broad.mit.edu 37 3 164754207 164754207 + Missense_Mutation SNP C C A TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr3:164754207C>A ENST00000264382.3 - 22 2547 c.2485G>T c.(2485-2487)Gac>Tac p.D829Y NM_001041.3 NP_001032.2 P14410 SUIS_HUMAN sucrase-isomaltase (alpha-glucosidase) 829 Isomaltase. 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) CAGAAAAAGTCTCCTTTGGCT 0.348000 HNSCC(35;0.089) 9 38 2.80697e-09 4.02853e-09 1 1 0 IGSF1 3547 broad.mit.edu 37 X 130412049 130412049 + Missense_Mutation SNP G G T TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chrX:130412049G>T ENST00000370904.1 - 19 2984 c.2074C>A c.(2074-2076)Ctc>Atc p.L692I IGSF1_ENST00000370910.1_Missense_Mutation_p.L692I|IGSF1_ENST00000361420.3_Missense_Mutation_p.L701I|IGSF1_ENST00000370903.3_Missense_Mutation_p.L706I Q8N6C5 IGSF1_HUMAN immunoglobulin superfamily, member 1 701 Ig-like C2-type 7. regulation of transcription, DNA-dependent extracellular region|integral to membrane inhibin beta-A binding|inhibin beta-B binding breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2) 78 TTGCACCGGAGTTGTAGTTCC 0.522000 27 109 5.91797e-21 1.01921e-20 1 1 0 PACS2 23241 broad.mit.edu 37 14 105833558 105833558 + Silent SNP A A G TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr14:105833558A>G ENST00000447393.1 + 5 607 c.432A>G c.(430-432)caA>caG p.Q144Q PACS2_ENST00000547217.1_Silent_p.Q114Q|PACS2_ENST00000430725.2_Silent_p.Q77Q|PACS2_ENST00000458164.2_Silent_p.Q144Q|PACS2_ENST00000325438.8_Silent_p.Q144Q NM_015197.3 NP_056012.2 Q86VP3 PACS2_HUMAN phosphofurin acidic cluster sorting protein 2 144 apoptosis|interspecies interaction between organisms endoplasmic reticulum lumen|mitochondrion endometrium(2)|kidney(2)|lung(7)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1) 21 all_cancers(154;0.0351)|all_epithelial(191;0.153)|Melanoma(154;0.155) OV - Ovarian serous cystadenocarcinoma(23;0.0145)|Epithelial(46;0.036) Epithelial(152;0.138) AGGTGATGCAACACCCGTCTG 0.642000 6 29 0 0 1 0 0 SLC22A6 9356 broad.mit.edu 37 11 62748565 62748565 + Missense_Mutation SNP C C A TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr11:62748565C>A ENST00000377871.3 - 6 1195 c.929G>T c.(928-930)cGg>cTg p.R310L SLC22A6_ENST00000458333.2_Missense_Mutation_p.R310L|SLC22A6_ENST00000537349.1_5'UTR|SLC22A6_ENST00000421062.2_Missense_Mutation_p.R310L|SLC22A6_ENST00000360421.4_Missense_Mutation_p.R310L NM_004790.4|NM_153278.2 NP_004781.2|NP_695010.1 Q4U2R8 S22A6_HUMAN solute carrier family 22 (organic anion transporter), member 6 310 alpha-ketoglutarate transport basolateral plasma membrane|integral to plasma membrane|membrane fraction inorganic anion exchanger activity|protein binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(18)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 36 CAGACTGGCCCGGAGTACCTG 0.662000 3 29 1 1 1 1 0 WDR49 151790 broad.mit.edu 37 3 167240120 167240120 + Silent SNP T T C TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr3:167240120T>C ENST00000308378.3 - 12 2006 c.1701A>G c.(1699-1701)aaA>aaG p.K567K WDR49_ENST00000479765.1_Intron|WDR49_ENST00000476376.1_Silent_p.K392K|WDR49_ENST00000453925.2_Silent_p.K532K NM_178824.3 NP_849146.1 Q8IV35 WDR49_HUMAN WD repeat domain 49 567 breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 50 TTGAGTCATCTTTGTTTTTCT 0.318000 3 31 0 0 1 0 0 GALNT10 55568 broad.mit.edu 37 5 153783767 153783767 + Missense_Mutation SNP C C G TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr5:153783767C>G ENST00000297107.6 + 8 1297 c.1160C>G c.(1159-1161)gCc>gGc p.A387G GALNT10_ENST00000377657.3_Missense_Mutation_p.A58G|GALNT10_ENST00000377661.2_Missense_Mutation_p.A325G|SAP30L-AS1_ENST00000524264.1_RNA|GALNT10_ENST00000519544.1_3'UTR|SAP30L-AS1_ENST00000519727.1_RNA NM_198321.3 NP_938080.1 Q86SR1 GLT10_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 10 (GalNAc-T10) 387 Golgi membrane|integral to membrane metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 32 Renal(175;0.00488) Medulloblastoma(196;0.0354)|all_neural(177;0.147)|all_hematologic(541;0.21) Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577) GTCAGCCTGGCCCGGGTAAGG 0.617000 9 7 0 0 1 0 0 SLC6A2 6530 broad.mit.edu 37 16 55729223 55729223 + Silent SNP C C T TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr16:55729223C>T ENST00000379906.2 + 7 1311 c.1056C>T c.(1054-1056)atC>atT p.I352I SLC6A2_ENST00000567238.1_Silent_p.I247I|SLC6A2_ENST00000566163.1_Silent_p.I307I|SLC6A2_ENST00000561820.1_Silent_p.I352I|SLC6A2_ENST00000568943.1_Silent_p.I352I|SLC6A2_ENST00000219833.8_Silent_p.I352I|SLC6A2_ENST00000414754.3_Silent_p.I352I NM_001043.3 NP_001034.1 P23975 SC6A2_HUMAN solute carrier family 6 (neurotransmitter transporter), member 2 352 synaptic transmission integral to plasma membrane|membrane fraction norepinephrine:sodium symporter activity breast(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(3)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(1) 41 BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267) Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Atomoxetine(DB00289)|Bethanidine(DB00217)|Bupropion(DB01156)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Diethylpropion(DB00937)|Doxepin(DB01142)|Duloxetine(DB00476)|Ergotamine(DB00696)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Maprotiline(DB00934)|Mazindol(DB00579)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285) TCAACTGTATCACCAGCTTCG 0.547000 10 86 0 0 1 0 0 CDC42EP4 23580 broad.mit.edu 37 17 71281643 71281643 + Missense_Mutation SNP C C A TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr17:71281643C>A ENST00000335793.3 - 2 1391 c.997G>T c.(997-999)Gct>Tct p.A333S CDC42EP4_ENST00000439510.2_Missense_Mutation_p.A263S|CDC42EP4_ENST00000581014.1_Missense_Mutation_p.G65V Q9H3Q1 BORG4_HUMAN CDC42 effector protein (Rho GTPase binding) 4 333 positive regulation of pseudopodium assembly|regulation of cell shape actin cytoskeleton|cytoplasm|endomembrane system|membrane|microtubule cytoskeleton GTP-Rho binding cervix(2)|endometrium(3)|large_intestine(1)|lung(7)|urinary_tract(1) 14 LUSC - Lung squamous cell carcinoma(166;0.0352)|Lung(188;0.0711) GAGACAGCAGCCCGGGCCCTG 0.657000 28 81 3.73148e-12 5.67038e-12 1 1 0 TOB1 10140 broad.mit.edu 37 17 48940956 48940956 + Silent SNP G G A rs142180537 TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr17:48940956G>A ENST00000499247.2 - 2 856 c.423C>T c.(421-423)ccC>ccT p.P141P TOB1_ENST00000268957.3_Silent_p.P141P|TOB1_ENST00000509385.1_5'UTR NM_001243885.1|NM_005749.3 NP_001230814.1|NP_005740.1 P50616 TOB1_HUMAN transducer of ERBB2, 1 141 negative regulation of cell proliferation SH3/SH2 adaptor activity breast(1)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 BRCA - Breast invasive adenocarcinoma(22;1.09e-08) GGTCACTTATGGGCATAAAAA 0.488000 OREG0024576 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 13 45 0 0 1 0 0 GAS2L3 283431 broad.mit.edu 37 12 101012237 101012237 + Missense_Mutation SNP G G C TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr12:101012237G>C ENST00000537247.1 + 8 1162 c.208G>C c.(208-210)Gag>Cag p.E70Q GAS2L3_ENST00000539410.1_Missense_Mutation_p.E174Q|GAS2L3_ENST00000547754.1_Missense_Mutation_p.E174Q|GAS2L3_ENST00000266754.5_Missense_Mutation_p.E174Q Q86XJ1 GA2L3_HUMAN growth arrest-specific 2 like 3 174 CH. cell cycle arrest endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 35 ATACGGGGTTGAGCCACCAGT 0.393000 7 38 0 0 1 0 0 OR5T2 219464 broad.mit.edu 37 11 55999767 55999767 + Missense_Mutation SNP C C A TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr11:55999767C>A ENST00000313264.4 - 1 970 c.895G>T c.(895-897)Gtg>Ttg p.V299L NM_001004746.1 NP_001004746.1 Q8NGG2 OR5T2_HUMAN olfactory receptor, family 5, subfamily T, member 2 299 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(6)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(3) 41 Esophageal squamous(21;0.00448) CTTGGTCTCACATACATGAAG 0.428000 22 116 1.22574e-08 1.73506e-08 1 1 0 CLEC4A 50856 broad.mit.edu 37 12 8276539 8276539 + Missense_Mutation SNP A A G rs36113649 TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr12:8276539A>G ENST00000229332.5 + 1 312 c.65A>G c.(64-66)aAc>aGc p.N22S CLEC4A_ENST00000345999.3_Missense_Mutation_p.N22S|CLEC4A_ENST00000360500.3_Missense_Mutation_p.N22S|CLEC4A_ENST00000352620.3_Missense_Mutation_p.N22S NM_016184.3|NM_194447.2|NM_194450.2 NP_057268.1|NP_919429.2|NP_919432.1 Q9UMR7 CLC4A_HUMAN C-type lectin domain family 4, member A 22 cell adhesion|cell surface receptor linked signaling pathway|innate immune response integral to plasma membrane sugar binding|transmembrane receptor activity cervix(1)|endometrium(3)|large_intestine(2)|lung(4)|prostate(1) 11 Kidney(36;0.0915) TCAGGCATCAACACAGCCTCT 0.418000 28 45 0 0 1 0 0 RAB39A 54734 broad.mit.edu 37 11 107832694 107832694 + Missense_Mutation SNP C C T TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr11:107832694C>T ENST00000320578.2 + 2 316 c.250C>T c.(250-252)Cgc>Tgc p.R84C NM_017516.1 NP_059986.1 Q14964 RB39A_HUMAN RAB39A, member RAS oncogene family 84 protein transport|small GTPase mediated signal transduction plasma membrane GTP binding ATCTTATTACCGCAACTCAGT 0.353000 4 23 0 0 1 0 0 NES 10763 broad.mit.edu 37 1 156646857 156646857 + Missense_Mutation SNP A A T TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr1:156646857A>T ENST00000368223.3 - 1 332 c.200T>A c.(199-201)gTt>gAt p.V67D NM_006617.1 NP_006608.1 P48681 NEST_HUMAN nestin 67 Coil 1B.|Rod. brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation cytoplasm|intermediate filament intermediate filament binding|structural molecule activity central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4) 64 all_hematologic(923;0.088)|Hepatocellular(266;0.158) GCGTTGGTCAACGAGGGCCCG 0.736000 4 4 0 0 1 0 0 FAM47C 442444 broad.mit.edu 37 X 37026574 37026574 + Missense_Mutation SNP G G A TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chrX:37026574G>A ENST00000358047.3 + 1 143 c.91G>A c.(91-93)Gcg>Acg p.A31T NM_001013736.2 NP_001013758.1 Q5HY64 FA47C_HUMAN family with sequence similarity 47, member C 31 breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1) 120 CAAGTACTTCGCGAAGCGCAA 0.642000 5 23 0 0 1 0 0 WASH6P 653440 broad.mit.edu 37 X 155254961 155254961 + RNA SNP C C T TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chrX:155254961C>T ENST00000285718.7 + 0 1266 WASH6P_ENST00000461007.1_RNA p.R453R(1) CCTTTGCCCGCGTGTCAGACT 0.642000 7 12 0 0 1 0 0 AURKC 6795 broad.mit.edu 37 19 57746650 57746650 + Silent SNP G G T TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr19:57746650G>T ENST00000302804.7 + 7 981 c.795G>T c.(793-795)ggG>ggT p.G265G AURKC_ENST00000415300.2_Silent_p.G246G|AURKC_ENST00000448930.1_Silent_p.G231G|AURKC_ENST00000598785.1_Silent_p.G231G|AURKC_ENST00000599062.1_Silent_p.G262G NM_001015878.1 NP_001015878.1 Q9UQB9 AURKC_HUMAN aurora kinase C 265 Protein kinase. cell cycle|cytokinesis condensed chromosome|cytoplasm|midbody|spindle midzone ATP binding|protein serine/threonine kinase activity breast(1)|endometrium(1)|large_intestine(9)|lung(9)|ovary(3)|prostate(1)|stomach(1) 25 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0122) TGCCTCTGGGGGCCCGGGACT 0.532000 9 22 2.17888e-05 2.7236e-05 1 1 0 EHMT2 10919 broad.mit.edu 37 6 31848493 31848493 + Missense_Mutation SNP C C T TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr6:31848493C>T ENST00000395728.3 - 26 3579 c.3580G>A c.(3580-3582)Gcc>Acc p.A1194T EHMT2_ENST00000375528.4_Missense_Mutation_p.A1160T|EHMT2_ENST00000480912.1_5'UTR|EHMT2_ENST00000375530.4_Missense_Mutation_p.A1103T|EHMT2_ENST00000375537.4_Missense_Mutation_p.A1137T Q96KQ7 EHMT2_HUMAN euchromatic histone-lysine N-methyltransferase 2 1137 DNA methylation|peptidyl-lysine dimethylation chromosome|nucleus histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1) 21 CTGAAGAAGGCGATGCGTGGA 0.582000 4 56 0 0 1 0 0 TCN1 6947 broad.mit.edu 37 11 59622172 59622172 + Missense_Mutation SNP G G T TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr11:59622172G>T ENST00000257264.3 - 7 1178 c.1074C>A c.(1072-1074)ttC>ttA p.F358L TCN1_ENST00000532419.1_5'UTR NM_001062.3 NP_001053.2 P20061 TCO1_HUMAN transcobalamin I (vitamin B12 binding protein, R binder family) 358 cobalamin metabolic process|cobalamin transport|cobalt ion transport extracellular region cobalamin binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 29 all_epithelial(135;0.198) Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) TCACACTGAGGAAGACAGAAC 0.383000 16 66 1.37522e-17 2.29204e-17 1 1 0 FRG1B 284802 broad.mit.edu 37 20 29628283 29628283 + Silent SNP G G C TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr20:29628283G>C ENST00000278882.3 + 6 665 c.285G>C c.(283-285)ggG>ggC p.G95G FRG1B_ENST00000358464.4_Silent_p.G95G|FRG1B_ENST00000439954.2_Silent_p.G100G p.G95G(4) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 ATGAAGCAGGGGACATAGAAG 0.378000 5 74 0 0 1 0 0 SYT10 341359 broad.mit.edu 37 12 33592396 33592396 + Missense_Mutation SNP G G T TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr12:33592396G>T ENST00000228567.3 - 1 358 c.62C>A c.(61-63)aCc>aAc p.T21N SYT10_ENST00000535526.1_5'UTR NM_198992.3 NP_945343.1 Q6XYQ8 SYT10_HUMAN synaptotagmin X 21 cell junction|integral to membrane|synaptic vesicle membrane metal ion binding|transporter activity NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1) 42 Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334) GCACAGCTCGGTGACGATGTG 0.572000 76 170 2.02624e-56 3.58933e-56 1 1 0 CHST5 23563 broad.mit.edu 37 16 75563351 75563351 + Missense_Mutation SNP G G A TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr16:75563351G>A ENST00000336257.3 - 3 2326 c.932C>T c.(931-933)gCc>gTc p.A311V RP11-77K12.7_ENST00000460606.1_3'UTR|CHST5_ENST00000541075.1_Missense_Mutation_p.A317V NM_024533.4 NP_078809.2 Q9GZS9 CHST5_HUMAN carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 5 311 A -> T (in dbSNP:rs7206332). N-acetylglucosamine metabolic process|protein sulfation integral to membrane|intrinsic to Golgi membrane N-acetylglucosamine 6-O-sulfotransferase activity cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2) 24 GCCGGTGAAGGCGTAGAGTGC 0.677000 19 96 0 0 1 0 0 SRSF1 6426 broad.mit.edu 37 17 56082810 56082810 + Missense_Mutation SNP G G A TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr17:56082810G>A ENST00000258962.4 - 4 912 c.704C>T c.(703-705)cCa>cTa p.P235L SRSF1_ENST00000582730.2_3'UTR|SRSF1_ENST00000584773.1_Missense_Mutation_p.P235L|SRSF1_ENST00000585096.1_Intron NM_006924.4 NP_008855.1 Q07955 SRSF1_HUMAN serine/arginine-rich splicing factor 1 235 Arg/Ser-rich (RS domain).|Interacts with SAFB1. mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA 5'-splice site recognition|termination of RNA polymerase II transcription catalytic step 2 spliceosome|cytoplasm|nuclear speck nucleotide binding|RNA binding breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 AGAATAGCGTGGTGATCCTCT 0.473000 68 191 0 0 1 0 0 CSNK2A2 1459 broad.mit.edu 37 16 58220711 58220711 + Missense_Mutation SNP A A C TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr16:58220711A>C ENST00000262506.3 - 3 449 c.266T>G c.(265-267)cTt>cGt p.L89R CSNK2A2_ENST00000566813.1_5'UTR NM_001896.2 NP_001887.1 P19784 CSK22_HUMAN casein kinase 2, alpha prime polypeptide 89 Protein kinase. axon guidance|Wnt receptor signaling pathway cytosol|nucleus ATP binding|protein N-terminus binding|protein serine/threonine kinase activity central_nervous_system(1) 1 TCCACCACGAAGGTTCTCCAG 0.413000 18 88 0 0 1 0 0 SYNE1 23345 broad.mit.edu 37 6 152685991 152685991 + Missense_Mutation SNP C C A TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr6:152685991C>A ENST00000367255.5 - 63 10737 c.10136G>T c.(10135-10137)cGt>cTt p.R3379L SYNE1_ENST00000448038.1_Missense_Mutation_p.R3386L|SYNE1_ENST00000265368.4_Missense_Mutation_p.R3379L|SYNE1_ENST00000423061.1_Missense_Mutation_p.R3386L|SYNE1_ENST00000341594.5_Missense_Mutation_p.R3418L NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 3379 cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) CCTTTTACAACGAATCCCTGC 0.468000 HNSCC(10;0.0054) 12 32 0.00010058 0.000121796 1 1 0 RNF17 56163 broad.mit.edu 37 13 25370319 25370319 + Missense_Mutation SNP C C A TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr13:25370319C>A ENST00000255324.5 + 11 1337 c.1285C>A c.(1285-1287)Cat>Aat p.H429N RNF17_ENST00000381921.1_Missense_Mutation_p.H429N|RNF17_ENST00000255326.4_3'UTR|RNF17_ENST00000255325.5_Missense_Mutation_p.H430N NM_001184993.1|NM_031277.2 NP_001171922.1|NP_112567.2 Q9BXT8 RNF17_HUMAN ring finger protein 17 429 multicellular organismal development cytoplasm|nucleus hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6) 36 Lung SC(185;0.0225)|Breast(139;0.077) all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524) AGATCCTTGCCATTTCTACAT 0.348000 4 60 1 1 1 1 0 CTSG 1511 broad.mit.edu 37 14 25044576 25044576 + Missense_Mutation SNP G G T TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr14:25044576G>T ENST00000216336.2 - 2 134 c.98C>A c.(97-99)cCc>cAc p.P33H NM_001911.2 NP_001902.1 P08311 CATG_HUMAN cathepsin G 33 Peptidase S1. immune response|proteolysis cell surface|extracellular space|plasma membrane|stored secretory granule heparin binding|serine-type endopeptidase activity autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)|urinary_tract(1) 25 GBM - Glioblastoma multiforme(265;0.0269) CGCCATGTAGGGGCGGGAGTG 0.572000 17 141 5.45727e-16 8.95108e-16 1 1 0 UTS2 10911 broad.mit.edu 37 1 7913047 7913047 + Missense_Mutation SNP G G A TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr1:7913047G>A ENST00000377516.2 - 2 337 c.17C>T c.(16-18)tCc>tTc p.S6F UTS2_ENST00000361696.5_Missense_Mutation_p.S6F|UTS2_ENST00000054668.5_Intron O95399 UTS2_HUMAN urotensin 2 6 muscle contraction|regulation of blood pressure|synaptic transmission extracellular space hormone activity kidney(1)|lung(4)|urinary_tract(1) 6 Ovarian(185;0.0634)|all_lung(157;0.178) all_epithelial(116;1.38e-20)|all_lung(118;1.29e-06)|Lung NSC(185;7.5e-06)|Renal(390;0.000147)|Breast(348;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.26e-71)|GBM - Glioblastoma multiforme(8;5.15e-36)|Colorectal(212;1.27e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000386)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|STAD - Stomach adenocarcinoma(132;0.000951)|READ - Rectum adenocarcinoma(331;0.0642) CAAACAGCAGGAGGCCAGCTT 0.423000 6 35 0 0 1 0 0 CDH2 1000 broad.mit.edu 37 18 25572690 25572690 + Missense_Mutation SNP C C G TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr18:25572690C>G ENST00000269141.3 - 9 1696 c.1273G>C c.(1273-1275)Gga>Cga p.G425R CDH2_ENST00000399380.3_Missense_Mutation_p.G394R NM_001792.3 NP_001783.2 P19022 CADH2_HUMAN cadherin 2, type 1, N-cadherin (neuronal) 425 Cadherin 3. adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation catenin complex|integral to membrane alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 82 GTAGGATCTCCGCCACTGATT 0.522000 12 75 0 0 1 0 0 CAPN15 6650 broad.mit.edu 37 16 599685 599685 + Missense_Mutation SNP C C A TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr16:599685C>A ENST00000219611.2 + 7 2276 c.1913C>A c.(1912-1914)gCg>gAg p.A638E LA16c-366D1.3_ENST00000565879.1_RNA NM_005632.2 NP_005623.1 calpain 15 TCCTACTTTGCGCTCCAGGCG 0.716000 2 1 0.0784 0.0826667 1 1 0 PRDM9 56979 broad.mit.edu 37 5 23522423 23522423 + Silent SNP G G A TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr5:23522423G>A ENST00000296682.3 + 7 701 c.519G>A c.(517-519)aaG>aaA p.K173K NM_020227.2 NP_064612.2 Q9NQV7 PRDM9_HUMAN PR domain containing 9 173 meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleoplasm histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11) 172 AACTCAGGAAGAAGGAGACTG 0.428000 HNSCC(3;0.000094) 39 80 0 0 1 0 0 LRPPRC 10128 broad.mit.edu 37 2 44204415 44204415 + Splice_Site SNP C C A TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr2:44204415C>A ENST00000260665.7 - 4 527 c.469_splice c.e4-1 p.G157_splice LRPPRC_ENST00000409659.1_Splice_Site_p.G157_splice|LRPPRC_ENST00000409946.1_Splice_Site_p.G157_splice NM_133259.3 NP_573566.2 P42704 LPPRC_HUMAN leucine-rich pentatricopeptide repeat containing 157 mitochondrion transport along microtubule|mRNA transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent condensed nuclear chromosome|cytoskeleton|mitochondrial nucleoid|nuclear inner membrane|nuclear outer membrane|nucleoplasm|perinuclear region of cytoplasm beta-tubulin binding|microtubule binding|RNA binding breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2) 41 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) ATACACAGCACCTACAAATGA 0.289000 12 35 4.3838e-07 5.78289e-07 1 1 0 POTEE 445582 broad.mit.edu 37 2 132021446 132021446 + Silent SNP C C T TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr2:132021446C>T ENST00000356920.5 + 15 2512 c.2418C>T c.(2416-2418)acC>acT p.T806T POTEE_ENST00000358087.5_3'UTR|PLEKHB2_ENST00000303908.3_Intron|PLEKHB2_ENST00000404460.1_Intron NM_001083538.1 NP_001077007.1 Q6S8J3 POTEE_HUMAN POTE ankyrin domain family, member E 806 Actin-like. ATP binding TCCTGCTGACCGAGGCCCCCC 0.597000 34 116 0 0 1 0 0 BAGE2 85319 broad.mit.edu 37 21 11047529 11047529 + RNA SNP A A T TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr21:11047529A>T ENST00000470054.1 - 0 725 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) TTCGTTGAAGACAAAAAGTAT 0.353000 17 297 0 0 1 0 0 INSRR 3645 broad.mit.edu 37 1 156814505 156814505 + Missense_Mutation SNP C C A TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr1:156814505C>A ENST00000368195.3 - 13 2964 c.2568G>T c.(2566-2568)ttG>ttT p.L856F NTRK1_ENST00000392302.2_Intron NM_014215.2 NP_055030.1 P14616 INSRR_HUMAN insulin receptor-related receptor 856 Fibronectin type-III 3. protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2) 42 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) CTACCTCTCCCAAGCGGCGGT 0.617000 34 45 1.59361e-14 2.54649e-14 1 1 0 GALNT8 26290 broad.mit.edu 37 12 4881637 4881637 + Silent SNP C C G TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr12:4881637C>G ENST00000252318.2 + 11 2125 c.1788C>G c.(1786-1788)acC>acG p.T596T NM_017417.1 NP_059113.1 Q9NY28 GALT8_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8) 596 Ricin B-type lectin. Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1) 35 ACAGAGATACCAAGCGGTGTC 0.517000 8 65 0 0 1 0 0 OR5L1 219437 broad.mit.edu 37 11 55579671 55579671 + Silent SNP C C T TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr11:55579671C>T ENST00000333973.2 + 1 818 c.729C>T c.(727-729)tcC>tcT p.S243S NM_001004738.1 NP_001004738.1 Q8NGL2 OR5L1_HUMAN olfactory receptor, family 5, subfamily L, member 1 243 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3) 78 all_epithelial(135;0.208) CCTGTGCTTCCCACCTCACAG 0.522000 11 75 0 0 1 0 0 BHLHB9 80823 broad.mit.edu 37 X 102005252 102005252 + Silent SNP C C A TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chrX:102005252C>A ENST00000372735.1 + 4 1914 c.1329C>A c.(1327-1329)gcC>gcA p.A443A BHLHB9_ENST00000457056.1_Silent_p.A443A|BHLHB9_ENST00000448867.1_Silent_p.A443A|BHLHB9_ENST00000447531.1_Silent_p.A443A|BHLHB9_ENST00000361229.4_Silent_p.A443A Q6PI77 BHLH9_HUMAN basic helix-loop-helix domain containing, class B, 9 443 cytoplasm|nucleus binding cervix(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 ACATTGTTGCCAATTACTTTT 0.363000 7 59 2.0095e-06 2.60646e-06 1 1 0 CEP152 22995 broad.mit.edu 37 15 49059641 49059641 + Nonsense_Mutation SNP G G A TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr15:49059641G>A ENST00000380950.2 - 16 2225 c.2038C>T c.(2038-2040)Cag>Tag p.Q680* CEP152_ENST00000399334.3_Nonsense_Mutation_p.Q680*|CEP152_ENST00000325747.5_Nonsense_Mutation_p.Q587* NM_001194998.1|NM_014985.3 NP_001181927.1|NP_055800.2 O94986 CE152_HUMAN centrosomal protein 152kDa 680 centrosome duplication|G2/M transition of mitotic cell cycle centrosome|cytosol protein kinase binding breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2) 63 all_lung(180;0.0428) all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06) TCATGGTGCTGCTGATAAGTC 0.443000 7 54 0 0 1 0 0 PPP1R12B 4660 broad.mit.edu 37 1 202464470 202464470 + Missense_Mutation SNP C C T rs143792888 byFrequency TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr1:202464470C>T ENST00000406302.3 + 16 2348 c.2195C>T c.(2194-2196)aCg>aTg p.T732M PPP1R12B_ENST00000367270.4_5'UTR|PPP1R12B_ENST00000336894.4_Missense_Mutation_p.T732M|PPP1R12B_ENST00000391959.3_5'UTR|PPP1R12B_ENST00000290419.5_3'UTR NM_001197131.1|NM_002481.3 NP_001184060.1|NP_002472.2 O60237 MYPT2_HUMAN protein phosphatase 1, regulatory subunit 12B 732 regulation of muscle contraction|signal transduction cytoplasm enzyme activator activity central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(17)|ovary(4)|skin(3)|urinary_tract(1) 41 BRCA - Breast invasive adenocarcinoma(75;0.166) AAACCCACCACGCCAGCATCT 0.468000 10 142 0 0 1 0 0 HNRNPA3 220988 broad.mit.edu 37 2 178081586 178081586 + Splice_Site SNP A A T TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr2:178081586A>T ENST00000411529.2 + 7 724 c.e7-1 HNRNPA3_ENST00000392524.2_Splice_Site|HNRNPA3_ENST00000435711.1_Splice_Site NM_194247.2 NP_919223.1 P51991 ROA3_HUMAN heterogeneous nuclear ribonucleoprotein A3 catalytic step 2 spliceosome|nucleolus|nucleoplasm nucleotide binding|protein binding|RNA binding breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|urinary_tract(1) 16 GTTTTTCCTCAGGAGGCTAtg 0.408000 10 30 0 0 1 0 0 PTPRH 5794 broad.mit.edu 37 19 55713588 55713588 + Missense_Mutation SNP T T A TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr19:55713588T>A ENST00000376350.3 - 6 1011 c.989A>T c.(988-990)tAc>tTc p.Y330F PTPRH_ENST00000588559.1_5'UTR|PTPRH_ENST00000263434.5_Missense_Mutation_p.Y152F NM_002842.3 NP_002833.3 Q9HD43 PTPRH_HUMAN protein tyrosine phosphatase, receptor type, H 330 Fibronectin type-III 4. apoptosis cytoplasm|integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2) 67 Renal(1328;0.245) BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.0479) CTCAACCCCGTAGGTGGAGTT 0.582000 17 85 0 0 1 0 0 UBE4B 10277 broad.mit.edu 37 1 10238772 10238772 + Missense_Mutation SNP T T C TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr1:10238772T>C ENST00000377157.3 + 25 3922 c.2861T>C c.(2860-2862)aTa>aCa p.I954T UBE4B_ENST00000253251.8_Missense_Mutation_p.I1070T|UBE4B_ENST00000343090.6_Missense_Mutation_p.I1199T NM_006048.4 NP_006039.2 O95155 UBE4B_HUMAN ubiquitination factor E4B 1199 apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV cytoplasm|ubiquitin ligase complex enzyme binding NS(3)|breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(14)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 48 all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046) AAATCCACAATAGCAATAGAA 0.458000 8 22 0 0 1 0 0 TLE1 7088 broad.mit.edu 37 9 84208062 84208062 + Missense_Mutation SNP C C T TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr9:84208062C>T ENST00000376499.3 - 15 2523 c.1459G>A c.(1459-1461)Gtg>Atg p.V487M NM_005077.3 NP_005068.2 Q04724 TLE1_HUMAN transducin-like enhancer of split 1 (E(sp1) homolog, Drosophila) 487 negative regulation of Wnt receptor signaling pathway|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway transcription factor binding NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 29 ACAGCGCACACCACCTCCCCG 0.637000 44 129 0 0 1 0 0 OR5AS1 219447 broad.mit.edu 37 11 55798836 55798836 + Missense_Mutation SNP G G T TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr11:55798836G>T ENST00000313555.1 + 1 942 c.942G>T c.(940-942)tgG>tgT p.W314C NM_001001921.1 NP_001001921.1 Q8N127 O5AS1_HUMAN olfactory receptor, family 5, subfamily AS, member 1 314 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1) 48 Esophageal squamous(21;0.00693) CAAATGAATGGTATTTAAATC 0.269000 5 26 0.000157383 0.00018693 1 1 0 RSPRY1 89970 broad.mit.edu 37 16 57265200 57265200 + Silent SNP C C T TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr16:57265200C>T ENST00000537866.1 + 13 2371 c.1498C>T c.(1498-1500)Cta>Tta p.L500L RSPRY1_ENST00000563073.1_3'UTR|RSPRY1_ENST00000394420.4_Silent_p.L500L Q96DX4 RSPRY_HUMAN ring finger and SPRY domain containing 1 500 extracellular region zinc ion binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|urinary_tract(3) 27 CTACGCCTTCCTAACAGCTGA 0.338000 6 55 0 0 1 0 0 HNRNPUL1 11100 broad.mit.edu 37 19 41779913 41779913 + Missense_Mutation SNP A A C TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr19:41779913A>C ENST00000392006.3 + 4 772 c.599A>C c.(598-600)gAa>gCa p.E200A HNRNPUL1_ENST00000593587.1_Missense_Mutation_p.E100A|HNRNPUL1_ENST00000378215.4_Missense_Mutation_p.E157A|HNRNPUL1_ENST00000594207.1_3'UTR|HNRNPUL1_ENST00000352456.3_Missense_Mutation_p.E100A|HNRNPUL1_ENST00000602130.1_Missense_Mutation_p.E200A|HNRNPUL1_ENST00000263367.3_Missense_Mutation_p.E111A|HNRNPUL1_ENST00000595018.1_Missense_Mutation_p.E100A NM_007040.3 NP_008971.2 Q9BUJ2 HNRL1_HUMAN heterogeneous nuclear ribonucleoprotein U-like 1 200 B30.2/SPRY. nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent heterogeneous nuclear ribonucleoprotein complex|nucleoplasm enzyme binding|RNA binding breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(1)|urinary_tract(1) 29 CCTCCTGCTGAAGAGGATGAA 0.433000 12 59 0 0 1 0 0 MGAT5 4249 broad.mit.edu 37 2 135107399 135107399 + Missense_Mutation SNP C C T TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr2:135107399C>T ENST00000409645.1 + 10 1388 c.1136C>T c.(1135-1137)tCa>tTa p.S379L MGAT5_ENST00000281923.2_Missense_Mutation_p.S379L Q09328 MGT5A_HUMAN mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase 379 post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|pancreas(1)|skin(3) 36 BRCA - Breast invasive adenocarcinoma(221;0.0964) GTCCTTGATTCATTTGGTACT 0.423000 11 77 0 0 1 0 0 GZF1 64412 broad.mit.edu 37 20 23345777 23345777 + Missense_Mutation SNP G G T TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr20:23345777G>T ENST00000338121.5 + 2 834 c.757G>T c.(757-759)Ggt>Tgt p.G253C GZF1_ENST00000542987.1_Intron|GZF1_ENST00000544236.1_Intron|GZF1_ENST00000377051.2_Missense_Mutation_p.G253C Q9H116 GZF1_HUMAN GDNF-inducible zinc finger protein 1 253 transcription, DNA-dependent nucleolus|nucleoplasm sequence-specific DNA binding|zinc ion binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|urinary_tract(2) 24 Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135) AACTGCTGAGGGTGATGTGGG 0.557000 3 47 1 1 1 1 0 C6orf106 64771 broad.mit.edu 37 6 34614502 34614502 + Silent SNP C C G TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr6:34614502C>G ENST00000374023.3 - 3 630 c.387G>C c.(385-387)gtG>gtC p.V129V C6orf106_ENST00000374021.1_Silent_p.V55V|C6orf106_ENST00000374026.3_Intron NM_024294.2 NP_077270.1 Q9H6K1 CF106_HUMAN chromosome 6 open reading frame 106 129 endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2) 10 ATCTCACCATCACCATGTTCA 0.517000 38 156 0 0 1 0 0 ANKRD44 91526 broad.mit.edu 37 2 197863664 197863664 + Missense_Mutation SNP T T G TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr2:197863664T>G ENST00000328737.2 - 24 2633 c.2557A>C c.(2557-2559)Atg>Ctg p.M853L ANKRD44_ENST00000337207.5_Missense_Mutation_p.M853L|ANKRD44_ENST00000450567.1_Missense_Mutation_p.M853L|ANKRD44_ENST00000282272.8_Missense_Mutation_p.M870L Q8N8A2 ANR44_HUMAN ankyrin repeat domain 44 878 protein binding NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 45 OV - Ovarian serous cystadenocarcinoma(117;0.246) TCAGCAGCCATCATCAGTGCT 0.478000 16 40 0 0 1 0 0 PAIP1 10605 broad.mit.edu 37 5 43535667 43535667 + Missense_Mutation SNP C C G TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr5:43535667C>G ENST00000306846.3 - 7 1280 c.1048G>C c.(1048-1050)Gaa>Caa p.E350Q PAIP1_ENST00000338972.4_Missense_Mutation_p.E238Q|PAIP1_ENST00000436644.2_Missense_Mutation_p.E271Q|PAIP1_ENST00000514514.1_Missense_Mutation_p.E271Q NM_006451.4|NM_182789.3 NP_006442.2|NP_877590.1 Q9H074 PAIP1_HUMAN poly(A) binding protein interacting protein 1 350 MIF4G. mRNA stabilization|nuclear-transcribed mRNA poly(A) tail shortening|translational initiation cytosol protein binding|RNA binding|translation activator activity endometrium(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 24 Lung NSC(6;2.07e-05) ACAACGTTTTCAATTCTCTGA 0.348000 11 18 0 0 1 0 0 DDX1 1653 broad.mit.edu 37 2 15760486 15760486 + Missense_Mutation SNP G G T TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr2:15760486G>T ENST00000381341.2 + 18 1750 c.1361G>T c.(1360-1362)aGa>aTa p.R454I DDX1_ENST00000233084.3_Missense_Mutation_p.R454I Q92499 DDX1_HUMAN DEAD (Asp-Glu-Ala-Asp) box helicase 1 454 Necessary for interaction with RELA. DNA duplex unwinding|double-strand break repair|multicellular organismal development|regulation of transcription, DNA-dependent|regulation of translational initiation|spliceosome assembly|transcription, DNA-dependent cleavage body|stress granule|tRNA-splicing ligase complex ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|DNA/RNA helicase activity|exonuclease activity|poly(A) RNA binding|protein binding|RNA helicase activity|transcription cofactor activity autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(13)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 29 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197) all_epithelial(98;2.96e-07)|Acute lymphoblastic leukemia(84;4.24e-05)|Ovarian(717;0.0694) GBM - Glioblastoma multiforme(3;0.00969) Epithelial(75;4.35e-05)|OV - Ovarian serous cystadenocarcinoma(76;0.133) AAAACTGACAGACTCTGGGAA 0.373000 7 25 0.000157383 0.00018693 1 1 0 OR10K2 391107 broad.mit.edu 37 1 158390131 158390131 + Missense_Mutation SNP G G C TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr1:158390131G>C ENST00000314902.2 - 1 525 c.526C>G c.(526-528)Cac>Gac p.H176D NM_001004476.1 NP_001004476.1 Q6IF99 O10K2_HUMAN olfactory receptor, family 10, subfamily K, member 2 176 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(19)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 all_hematologic(112;0.0378) CAGAAGAAGTGATGTAGTTGA 0.468000 10 113 0 0 1 0 0 MAGEB4 4115 broad.mit.edu 37 X 30260717 30260717 + Silent SNP T T A TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chrX:30260717T>A ENST00000378982.2 + 1 661 c.465T>A c.(463-465)tcT>tcA p.S155S NM_002367.3 NP_002358.1 O15481 MAGB4_HUMAN melanoma antigen family B, 4 155 MAGE. breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 27 GGAAAGTCTCTCAGCGCACGG 0.498000 7 23 0 0 1 0 0 SMU1 55234 broad.mit.edu 37 9 33053211 33053211 + Silent SNP G G C TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr9:33053211G>C ENST00000397149.3 - 10 1250 c.1200C>G c.(1198-1200)gtC>gtG p.V400V SMU1_ENST00000536631.1_Silent_p.V239V NM_018225.2 NP_060695.2 Q2TAY7 SMU1_HUMAN smu-1 suppressor of mec-8 and unc-52 homolog (C. elegans) 400 cytoplasm|nucleus endometrium(2)|lung(4)|ovary(2)|prostate(1) 9 LUSC - Lung squamous cell carcinoma(29;0.0227) GBM - Glioblastoma multiforme(74;0.11) TCACACTGTTGACGGTAATAT 0.443000 14 70 0 0 1 0 0 GPR148 344561 broad.mit.edu 37 2 131487520 131487520 + Missense_Mutation SNP C C T TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr2:131487520C>T ENST00000309926.4 + 1 878 c.796C>T c.(796-798)Cac>Tac p.H266Y NM_207364.2 NP_997247.2 Q8TDV2 GP148_HUMAN G protein-coupled receptor 148 266 integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(15)|skin(3)|upper_aerodigestive_tract(1) 27 Colorectal(110;0.1) CCTGCTGATCCACTCAGTGCT 0.567000 24 92 0 0 1 0 0 AKAP4 8852 broad.mit.edu 37 X 49955642 49955642 + Silent SNP G G T TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chrX:49955642G>T ENST00000376056.2 - 6 2649 c.2499C>A c.(2497-2499)gcC>gcA p.A833A AKAP4_ENST00000358526.2_Silent_p.A842A|AKAP4_ENST00000376064.3_Silent_p.A833A|AKAP4_ENST00000376058.2_Silent_p.A459A|AKAP4_ENST00000481402.1_5'UTR Q5JQC9 AKAP4_HUMAN A kinase (PRKA) anchor protein 4 842 cell projection organization|single fertilization|sperm motility cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum protein kinase A binding NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4) 41 Ovarian(276;0.236) ACTGTTTCCTGGCCACCTTTC 0.532000 22 44 3.62473e-10 5.25078e-10 1 1 0 ZFAND1 79752 broad.mit.edu 37 8 82626195 82626195 + Missense_Mutation SNP C C T TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr8:82626195C>T ENST00000220669.5 - 6 456 c.438G>A c.(436-438)atG>atA p.M146I ZFAND1_ENST00000519523.1_Missense_Mutation_p.M146I|ZFAND1_ENST00000522520.1_Missense_Mutation_p.M39I|ZFAND1_ENST00000521287.1_Missense_Mutation_p.M39I|ZFAND1_ENST00000521895.1_Missense_Mutation_p.M39I|ZFAND1_ENST00000523096.1_Missense_Mutation_p.M146I|ZFAND1_ENST00000517588.1_Missense_Mutation_p.M39I NM_024699.2 NP_078975.2 Q8TCF1 ZFAN1_HUMAN zinc finger, AN1-type domain 1 146 zinc ion binding kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 13 TCTTTAATTTCATCAATGCAA 0.353000 3 51 0 0 1 0 0 TAL1 6886 broad.mit.edu 37 1 47685506 47685506 + Silent SNP G G T TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr1:47685506G>T ENST00000371883.3 - 4 1464 c.888C>A c.(886-888)tcC>tcA p.S296S TAL1_ENST00000371884.2_Silent_p.S294S|TAL1_ENST00000294339.3_Silent_p.S294S|TAL1_ENST00000459729.1_5'UTR P17542 TAL1_HUMAN T-cell acute lymphocytic leukemia 1 294 basophil differentiation|cell fate commitment|cell proliferation|embryonic hemopoiesis|erythrocyte differentiation|megakaryocyte differentiation|positive regulation of cell division|positive regulation of chromatin assembly or disassembly|positive regulation of erythrocyte differentiation|positive regulation of mitotic cell cycle|positive regulation of protein complex assembly|positive regulation of transcription from RNA polymerase II promoter nuclear chromatin E-box binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity haematopoietic_and_lymphoid_tissue(1)|lung(12)|prostate(1)|upper_aerodigestive_tract(1) 15 CCCCATCCAGGGAGCTGCCGC 0.716000 T """TRD@, SIL""" lymphoblastic leukemia/biphasic 5 66 1 1 1 1 0 SERPIND1 3053 broad.mit.edu 37 22 21140420 21140420 + Missense_Mutation SNP G G T TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr22:21140420G>T ENST00000215727.5 + 4 1575 c.1292G>T c.(1291-1293)aGg>aTg p.R431M PI4KA_ENST00000255882.6_Intron|SERPIND1_ENST00000406799.1_Missense_Mutation_p.R431M|PI4KA_ENST00000466162.1_Intron|PI4KA_ENST00000572273.1_Intron NM_000185.3 NP_000176.2 P05546 HEP2_HUMAN serpin peptidase inhibitor, clade D (heparin cofactor), member 1 431 blood coagulation|chemotaxis|regulation of proteolysis extracellular region heparin binding|serine-type endopeptidase inhibitor activity breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 all_cancers(11;6.16e-25)|all_epithelial(7;1.02e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196) Ardeparin(DB00407) TCAGACCAAAGGATCGCCATC 0.562000 9 111 0.000673444 0.000767528 1 1 0 KNTC1 9735 broad.mit.edu 37 12 123082445 123082445 + Missense_Mutation SNP C C A TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr12:123082445C>A ENST00000333479.7 + 44 4700 c.4523C>A c.(4522-4524)aCa>aAa p.T1508K KNTC1_ENST00000545065.1_3'UTR|KNTC1_ENST00000450485.2_Intron NM_014708.4 NP_055523.1 P50748 KNTC1_HUMAN kinetochore associated 1 1508 cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole protein binding breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4) 72 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217) CTGACGAGCACAAAAGATTTG 0.498000 7 58 0.000157383 0.00018693 1 1 0 ATP7A 538 broad.mit.edu 37 X 77244097 77244097 + Silent SNP T T C TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chrX:77244097T>C ENST00000341514.6 + 3 635 c.480T>C c.(478-480)tgT>tgC p.C160C ATP7A_ENST00000343533.5_Silent_p.C160C|ATP7A_ENST00000350425.4_Intron NM_000052.5 NP_000043.3 Q04656 ATP7A_HUMAN ATPase, Cu++ transporting, alpha polypeptide 160 ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process basolateral plasma membrane|cytosol|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1) 53 CAGGAGCTTGTGAAGATCATA 0.418000 17 99 0 0 1 0 0 PPP1R12B 4660 broad.mit.edu 37 1 202418211 202418211 + Missense_Mutation SNP C C T TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr1:202418211C>T ENST00000406302.3 + 13 1915 c.1762C>T c.(1762-1764)Ctt>Ttt p.L588F PPP1R12B_ENST00000336894.4_Missense_Mutation_p.L588F NM_001197131.1|NM_002481.3 NP_001184060.1|NP_002472.2 O60237 MYPT2_HUMAN protein phosphatase 1, regulatory subunit 12B 588 regulation of muscle contraction|signal transduction cytoplasm enzyme activator activity p.L588F(1) central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(17)|ovary(4)|skin(3)|urinary_tract(1) 41 BRCA - Breast invasive adenocarcinoma(75;0.166) CAATCGCCCTCTTCCTAGCAC 0.512000 6 55 0 0 1 0 0 SEMA3B 7869 broad.mit.edu 37 3 50313211 50313211 + RNA SNP C C T TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr3:50313211C>T ENST00000418948.1 + 0 2015 Q13214 SEM3B_HUMAN sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3B axon guidance|cell-cell signaling endoplasmic reticulum|extracellular region|membrane receptor activity central_nervous_system(2)|kidney(1)|lung(2)|skin(1) 6 BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605) GAGTGTGAGCCCCGCTCGCTG 0.657000 4 23 0 0 1 0 0 NCKAP5 344148 broad.mit.edu 37 2 133543098 133543098 + Missense_Mutation SNP C C A TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr2:133543098C>A ENST00000409261.1 - 14 1659 c.1286G>T c.(1285-1287)tGc>tTc p.C429F NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000317721.6_Missense_Mutation_p.C429F NM_207363.2 NP_997246.2 O14513 NCKP5_HUMAN NCK-associated protein 5 429 protein binding NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 118 CGAGTTCATGCAATCTTTATA 0.448000 7 30 0.0477658 0.0507102 1 1 0 ZIK1 284307 broad.mit.edu 37 19 58102405 58102405 + Missense_Mutation SNP G G T TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr19:58102405G>T ENST00000597850.1 + 4 1441 c.1226G>T c.(1225-1227)tGt>tTt p.C409F ZIK1_ENST00000307468.4_3'UTR|ZIK1_ENST00000536878.2_Missense_Mutation_p.C396F|ZIK1_ENST00000599456.1_Missense_Mutation_p.C354F NM_001010879.2 NP_001010879.2 Q3SY52 ZIK1_HUMAN zinc finger protein interacting with K protein 1 409 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257) CCTTATAAGTGTGGTGACTGT 0.458000 5 32 1.23904e-05 1.56139e-05 1 1 0 SKIV2L2 23517 broad.mit.edu 37 5 54649077 54649077 + Missense_Mutation SNP G G T TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr5:54649077G>T ENST00000230640.5 + 14 1767 c.1513G>T c.(1513-1515)Gat>Tat p.D505Y SKIV2L2_ENST00000545714.1_Missense_Mutation_p.D404Y NM_015360.4 NP_056175.3 P42285 SK2L2_HUMAN superkiller viralicidic activity 2-like 2 (S. cerevisiae) 505 Helicase C-terminal. maturation of 5.8S rRNA catalytic step 2 spliceosome|nucleolus ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding NS(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 41 Lung NSC(810;0.000744)|Breast(144;0.181)|Prostate(74;0.194) CCGCAAATTTGATGGGAAGGA 0.338000 22 42 6.44725e-10 9.29604e-10 1 1 0 CLP1 10978 broad.mit.edu 37 11 57427353 57427353 + Silent SNP C C T TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr11:57427353C>T ENST00000533682.1 + 2 1130 c.405C>T c.(403-405)ctC>ctT p.L135L CLP1_ENST00000529430.1_Silent_p.L146L|CLP1_ENST00000525602.1_Silent_p.L135L|CLP1_ENST00000302731.4_Silent_p.L135L Q92989 CLP1_HUMAN cleavage and polyadenylation factor I subunit 1 135 mRNA 3'-end processing|nuclear mRNA splicing, via spliceosome|siRNA loading onto RISC involved in RNA interference|targeting of mRNA for destruction involved in RNA interference|termination of RNA polymerase II transcription|tRNA splicing, via endonucleolytic cleavage and ligation nucleoplasm|tRNA-intron endonuclease complex ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|ATP-dependent polyribonucleotide 5'-hydroxyl-kinase activity autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|stomach(1) 15 GCCTTCTGCTCAACTACGCAG 0.597000 4 23 0 0 1 0 0 MED10 84246 broad.mit.edu 37 5 6374488 6374488 + Missense_Mutation SNP C C A TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr5:6374488C>A ENST00000255764.3 - 3 368 c.258G>T c.(256-258)gaG>gaT p.E86D NM_032286.2 NP_115662.2 Q9BTT4 MED10_HUMAN mediator complex subunit 10 86 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent mediator complex kidney(1)|large_intestine(1)|ovary(1)|prostate(1)|urinary_tract(1) 5 CTAGAGCCCTCTCCAGGCACT 0.423000 60 72 2.84776e-26 4.9876e-26 1 1 0 CREB3L1 90993 broad.mit.edu 37 11 46342033 46342033 + Missense_Mutation SNP G G A TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr11:46342033G>A ENST00000529193.1 + 11 1928 c.1477G>A c.(1477-1479)Ggc>Agc p.G493S CREB3L1_ENST00000288400.3_Missense_Mutation_p.G493S Q96BA8 CR3L1_HUMAN cAMP responsive element binding protein 3-like 1 493 response to unfolded protein endoplasmic reticulum membrane|integral to membrane|nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity FUS/CREB3L1(6) NS(2)|breast(1)|large_intestine(4)|lung(2)|ovary(3) 12 GBM - Glioblastoma multiforme(35;0.0285) CGGTGGAAACGGCACCAGCCC 0.637000 T FUS myxofibrosarcoma 3 10 0 0 1 0 0 ARMCX2 9823 broad.mit.edu 37 X 100911668 100911668 + Nonsense_Mutation SNP C C A TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chrX:100911668C>A ENST00000328766.5 - 5 1360 c.907G>T c.(907-909)Gaa>Taa p.E303* ARMCX2_ENST00000330154.2_Nonsense_Mutation_p.E303*|ARMCX2_ENST00000356824.4_Nonsense_Mutation_p.E303* NM_014782.5 NP_055597.1 Q7L311 ARMX2_HUMAN armadillo repeat containing, X-linked 2 303 integral to membrane binding NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(6)|prostate(1)|skin(1) 29 TCGTCTACTTCAACTTTGCTT 0.597000 24 100 9.22233e-05 0.000112115 1 1 0 CAMTA1 23261 broad.mit.edu 37 1 7792638 7792638 + Silent SNP G G T TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr1:7792638G>T ENST00000303635.7 + 12 3252 c.3045G>T c.(3043-3045)ggG>ggT p.G1015G CAMTA1_ENST00000439411.2_Silent_p.G1015G NM_015215.2 NP_056030.1 Q9Y6Y1 CMTA1_HUMAN calmodulin binding transcription activator 1 1015 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus calmodulin binding breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 85 Ovarian(185;0.0634) all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388) UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133) GCGGGAGCGGGAATGGAGGGA 0.632000 T WWTR1 epitheliod hemangioendothelioma 3 10 1.23904e-05 1.56139e-05 1 1 0 MYO18B 84700 broad.mit.edu 37 22 26294422 26294422 + Missense_Mutation SNP A A G TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr22:26294422A>G ENST00000335473.7 + 29 5067 c.4817A>G c.(4816-4818)cAg>cGg p.Q1606R CTA-125H2.2_ENST00000599080.1_RNA|CTA-125H2.2_ENST00000599792.1_RNA|CTA-125H2.2_ENST00000600211.1_RNA|CTA-125H2.2_ENST00000600269.1_RNA|CTA-125H2.2_ENST00000453457.2_RNA|CTA-125H2.2_ENST00000594542.1_RNA|CTA-125H2.2_ENST00000597548.1_RNA|CTA-125H2.2_ENST00000594856.1_RNA|CTA-125H2.2_ENST00000597284.1_RNA|CTA-125H2.2_ENST00000600903.1_RNA|MYO18B_ENST00000407587.2_Missense_Mutation_p.Q1607R|CTA-125H2.2_ENST00000594585.1_RNA|CTA-125H2.2_ENST00000595102.1_RNA|MYO18B_ENST00000536101.1_Missense_Mutation_p.Q1606R NM_032608.5 NP_115997.5 Q8IUG5 MY18B_HUMAN myosin XVIIIB 1606 Tail. 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 GAGAAGAAGCAGAAGAAGTGA 0.522000 8 80 0 0 1 0 0 OR2T3 343173 broad.mit.edu 37 1 248637204 248637204 + Nonsense_Mutation SNP G G T TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr1:248637204G>T ENST00000359594.2 + 1 578 c.553G>T c.(553-555)Gag>Tag p.E185* NM_001005495.1 NP_001005495.1 Q8NH03 OR2T3_HUMAN olfactory receptor, family 2, subfamily T, member 3 185 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|endometrium(5)|lung(19)|ovary(1)|prostate(1)|skin(3) 31 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) TTTTTTCTGTGAGACTCCTGC 0.517000 7 45 3.09899e-07 4.14089e-07 1 1 0 USH2A 7399 broad.mit.edu 37 1 215972392 215972392 + Missense_Mutation SNP G G T TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr1:215972392G>T ENST00000366943.2 - 50 10201 c.9815C>A c.(9814-9816)cCg>cAg p.P3272Q USH2A_ENST00000307340.3_Missense_Mutation_p.P3272Q O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 3272 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) GGTGGAGTACGGCATTCTGCC 0.483000 HNSCC(13;0.011) 18 31 1.67942e-08 2.33461e-08 1 1 0 DDX11 1663 broad.mit.edu 37 12 31236747 31236747 + Splice_Site SNP G G T TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr12:31236747G>T ENST00000251758.5 + 3 396 c.144_splice c.e3-1 p.G49_splice DDX11_ENST00000545668.1_Splice_Site_p.G49_splice|DDX11_ENST00000542838.1_Splice_Site_p.G49_splice|DDX11_ENST00000350437.4_Splice_Site_p.G49_splice|DDX11_ENST00000407793.2_Splice_Site_p.G49_splice|DDX11_ENST00000228264.6_Splice_Site_p.G23_splice Q96FC9 DDX11_HUMAN DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11 49 Helicase ATP-binding. 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) CTTCCTGCAGGGGAAGTCCTT 0.443000 Multiple Myeloma(12;0.14) 4 42 8.12818e-05 9.92022e-05 1 1 0 GPR151 134391 broad.mit.edu 37 5 145895474 145895474 + Missense_Mutation SNP C C A TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr5:145895474C>A ENST00000311104.2 - 1 279 c.203G>T c.(202-204)gGa>gTa p.G68V NM_194251.2 NP_919227.2 Q8TDV0 GP151_HUMAN G protein-coupled receptor 151 68 integral to membrane|plasma membrane G-protein coupled receptor activity endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(2) 14 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) GGATGGCTTTCCTTTCCAAGC 0.537000 4 54 0.150653 0.155158 1 1 0 IDH1 3417 broad.mit.edu 37 2 209113112 209113112 + Missense_Mutation SNP C C A rs121913500 TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr2:209113112C>A ENST00000415913.1 - 4 776 c.395G>T c.(394-396)cGt>cTt p.R132L IDH1_ENST00000446179.1_Missense_Mutation_p.R132L|IDH1_ENST00000345146.2_Missense_Mutation_p.R132L O75874 IDHC_HUMAN isocitrate dehydrogenase 1 (NADP+), soluble 132 R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). 2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle cytosol|peroxisomal matrix isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1) NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1) 4887 Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136) ATAAGCATGACGACCTATGAT 0.393000 Mis gliobastoma 11 54 1.15088e-07 1.55796e-07 1 1 0 GUCY2F 2986 broad.mit.edu 37 X 108641894 108641894 + Missense_Mutation SNP G G T TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chrX:108641894G>T ENST00000218006.2 - 11 2450 c.2159C>A c.(2158-2160)gCt>gAt p.A720D NM_001522.2 NP_001513.2 P51841 GUC2F_HUMAN guanylate cyclase 2F, retinal 720 Protein kinase. intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception integral to plasma membrane|nuclear outer membrane ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1) 67 GCCTCTTGGAGCTCTCAACAG 0.478000 7 28 0.27861 0.285047 1 1 0 PCDHA8 56140 broad.mit.edu 37 5 140222139 140222139 + Silent SNP C C T rs147149527 byFrequency TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr5:140222139C>T ENST00000531613.1 + 1 1233 c.1233C>T c.(1231-1233)agC>agT p.S411S PCDHA8_ENST00000378123.3_Silent_p.S411S|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron NM_018911.2 NP_061734.1 NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6) 78 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGCTGGACAGCGCCCTGGACC 0.627000 6 216 0 0 1 0 0 WDR13 64743 broad.mit.edu 37 X 48460174 48460174 + Silent SNP G G T TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chrX:48460174G>T ENST00000218056.5 + 6 1339 c.834G>T c.(832-834)gtG>gtT p.V278V NM_001166426.1|NM_017883.4 NP_001159898.1|NP_060353.2 Q9H1Z4 WDR13_HUMAN WD repeat domain 13 278 cytoplasm|nucleus endometrium(1)|large_intestine(4)|lung(4)|ovary(2) 11 CCCCACAGGTGGGGAACGCCA 0.587000 7 24 2.52707e-12 3.85907e-12 1 1 0 RAI2 10742 broad.mit.edu 37 X 17818601 17818601 + Silent SNP G G T TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chrX:17818601G>T ENST00000545871.1 - 3 1990 c.1530C>A c.(1528-1530)tcC>tcA p.S510S RAI2_ENST00000451717.1_Silent_p.S510S|RAI2_ENST00000415486.3_Silent_p.S460S|RAI2_ENST00000360011.1_Silent_p.S510S|RAI2_ENST00000331511.1_Silent_p.S510S NM_001172739.1|NM_001172743.1 NP_001166210.1|NP_001166214.1 Q9Y5P3 RAI2_HUMAN retinoic acid induced 2 510 embryo development breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1) 22 Hepatocellular(33;0.183) GTATTTCCTGGGAGTTCACTT 0.403000 54 277 2.34445e-45 4.12943e-45 1 1 0 PLXNC1 10154 broad.mit.edu 37 12 94634438 94634438 + Silent SNP C C A TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr12:94634438C>A ENST00000258526.4 + 11 2547 c.2298C>A c.(2296-2298)atC>atA p.I766I NM_005761.2 NP_005752.1 O60486 PLXC1_HUMAN plexin C1 766 axon guidance|cell adhesion integral to membrane|intracellular|plasma membrane receptor activity|receptor binding breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 CCACCTGGATCAGGTACTTTC 0.388000 15 68 2.31682e-05 2.87286e-05 1 1 0 SLC17A6 57084 broad.mit.edu 37 11 22399021 22399021 + Missense_Mutation SNP C C A TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr11:22399021C>A ENST00000263160.3 + 12 1921 c.1484C>A c.(1483-1485)gCa>gAa p.A495E NM_020346.2 NP_065079.1 Q9P2U8 VGLU2_HUMAN solute carrier family 17 (vesicular glutamate transporter), member 6 495 sodium ion transport cell junction|integral to membrane|synaptic vesicle membrane|synaptosome L-glutamate transmembrane transporter activity|symporter activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3) 50 ATATTTTATGCAATATTTGCC 0.438000 7 39 5.18039e-06 6.66357e-06 1 1 0 TRPA1 8989 broad.mit.edu 37 8 72975766 72975766 + Missense_Mutation SNP C C G TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr8:72975766C>G ENST00000262209.4 - 5 800 c.593G>C c.(592-594)gGa>gCa p.G198A NM_007332.2 NP_015628.2 O75762 TRPA1_HUMAN transient receptor potential cation channel, subfamily A, member 1 198 integral to plasma membrane NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1) 98 Epithelial(68;0.223) Menthol(DB00825) AGGGAAACATCCCCATTTATT 0.363000 15 34 0 0 1 0 0 KLHL4 56062 broad.mit.edu 37 X 86868949 86868949 + Missense_Mutation SNP C C A rs146051966 byFrequency TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chrX:86868949C>A ENST00000373119.4 + 2 637 c.492C>A c.(490-492)caC>caA p.H164Q KLHL4_ENST00000373114.4_Missense_Mutation_p.H164Q NM_019117.4 NP_061990.2 Q9C0H6 KLHL4_HUMAN kelch-like family member 4 164 cytoplasm|microtubule cytoskeleton|nucleolus actin binding NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1) 67 TTATAAACCACGCAGAGCAAA 0.423000 15 64 0.000308642 0.000363799 1 1 0 SMOC1 64093 broad.mit.edu 37 14 70442456 70442456 + Missense_Mutation SNP T T A TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr14:70442456T>A ENST00000381280.4 + 4 656 c.403T>A c.(403-405)Tac>Aac p.Y135N SMOC1_ENST00000361956.3_Missense_Mutation_p.Y135N NM_001034852.2|NM_022137.5 NP_001030024.1|NP_071420.1 Q9H4F8 SMOC1_HUMAN SPARC related modular calcium binding 1 135 Thyroglobulin type-1 1. cell differentiation|eye development|limb development|regulation of osteoblast differentiation|signal transduction basement membrane calcium ion binding breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 21 all cancers(60;0.00417)|BRCA - Breast invasive adenocarcinoma(234;0.0119)|OV - Ovarian serous cystadenocarcinoma(108;0.028) TTACACTGGGTACTGCTGGTG 0.502000 11 55 0 0 1 0 0 WDR13 64743 broad.mit.edu 37 X 48457261 48457261 + Nonsense_Mutation SNP C C A TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chrX:48457261C>A ENST00000218056.5 + 2 703 c.198C>A c.(196-198)taC>taA p.Y66* WDR13_ENST00000492715.1_3'UTR NM_001166426.1|NM_017883.4 NP_001159898.1|NP_060353.2 Q9H1Z4 WDR13_HUMAN WD repeat domain 13 66 cytoplasm|nucleus endometrium(1)|large_intestine(4)|lung(4)|ovary(2) 11 GCCAGCGCTACGGGCCCCTCT 0.677000 7 28 0.000157383 0.00018693 1 1 0 CBLN1 869 broad.mit.edu 37 16 49313330 49313330 + Silent SNP C C A TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr16:49313330C>A ENST00000219197.6 - 3 932 c.567G>T c.(565-567)ctG>ctT p.L189L CBLN1_ENST00000536749.1_Silent_p.L189L NM_004352.3 NP_004343.1 P23435 CBLN1_HUMAN cerebellin 1 precursor 189 C1q.|Necessary for interaction with CBLN3, and homotrimerization (By similarity). nervous system development|synaptic transmission cell junction|extracellular region|synapse breast(1)|kidney(3)|large_intestine(2)|lung(3) 9 all_cancers(37;0.0766)|all_lung(18;0.24) GAGGAAACACCAGGAATCCGG 0.562000 13 73 1.67942e-08 2.33461e-08 1 1 0 ABAT 18 broad.mit.edu 37 16 8868846 8868846 + Missense_Mutation SNP G G T TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr16:8868846G>T ENST00000396600.2 + 13 1992 c.1054G>T c.(1054-1056)Gtg>Ttg p.V352L ABAT_ENST00000425191.2_Missense_Mutation_p.V352L|ABAT_ENST00000567812.1_Missense_Mutation_p.V367L|ABAT_ENST00000268251.8_Missense_Mutation_p.V352L|ABAT_ENST00000569156.1_Missense_Mutation_p.V352L NM_000663.4 NP_000654.2 P80404 GABT_HUMAN 4-aminobutyrate aminotransferase 352 behavioral response to cocaine|gamma-aminobutyric acid catabolic process|neurotransmitter catabolic process|neurotransmitter secretion 4-aminobutyrate transaminase complex|mitochondrial matrix (S)-3-amino-2-methylpropionate transaminase activity|4-aminobutyrate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|succinate-semialdehyde dehydrogenase binding breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|skin(3)|upper_aerodigestive_tract(2) 26 Divalproex sodium(DB00510)|Isoniazid(DB00951)|L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)|Tiagabine(DB00906)|Valproic Acid(DB00313)|Vigabatrin(DB01080) CCCAGCAGACGTGATGACCTT 0.582000 11 48 2.61681e-11 3.90006e-11 1 1 0 CLEC1A 51267 broad.mit.edu 37 12 10228148 10228148 + Silent SNP A A C TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr12:10228148A>C ENST00000315330.4 - 4 560 c.498T>G c.(496-498)ctT>ctG p.L166L CLEC1A_ENST00000420265.2_Silent_p.L74L|CLEC1A_ENST00000457018.2_Silent_p.L133L NM_016511.2 NP_057595.2 Q8NC01 CLC1A_HUMAN C-type lectin domain family 1, member A 166 C-type lectin. cell surface receptor linked signaling pathway|defense response integral to plasma membrane|intracellular sugar binding|transmembrane receptor activity breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1) 23 AGTTTTCACTAAGGCAGAAAT 0.393000 26 47 0 0 1 0 0 ZNF493 284443 broad.mit.edu 37 19 21607362 21607362 + Missense_Mutation SNP G G T TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr19:21607362G>T ENST00000392288.2 + 4 2010 c.1901G>T c.(1900-1902)tGt>tTt p.C634F CTD-2561J22.3_ENST00000600810.1_Intron|ZNF493_ENST00000355504.4_Missense_Mutation_p.C506F NM_001076678.2 NP_001070146.1 Q6ZR52 ZN493_HUMAN zinc finger protein 493 506 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 30 TGTGAAGAATGTGGCAAAGCT 0.383000 3 41 0.115264 0.119906 1 1 0 MCM5 4174 broad.mit.edu 37 22 35817363 35817363 + Nonsense_Mutation SNP C C T TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr22:35817363C>T ENST00000216122.4 + 15 2039 c.1885C>T c.(1885-1887)Cag>Tag p.Q629* MCM5_ENST00000382011.5_Nonsense_Mutation_p.Q586* NM_006739.3 NP_006730.2 P33992 MCM5_HUMAN minichromosome maintenance complex component 5 629 cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle MCM complex ATP binding|DNA binding|helicase activity|protein binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 29 GATGAAGCTGCAGCCCTTCGC 0.622000 16 67 0 0 1 0 0 ZIC5 85416 broad.mit.edu 37 13 100617983 100617983 + Missense_Mutation SNP C C A TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr13:100617983C>A ENST00000267294.4 - 2 1873 c.1640G>T c.(1639-1641)aGt>aTt p.S547I NM_033132.3 NP_149123.2 Q96T25 ZIC5_HUMAN Zic family member 5 547 cell differentiation nucleus DNA binding|zinc ion binding endometrium(3)|kidney(1)|lung(2)|prostate(1)|skin(2) 9 all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) GGGCTTGTCACTGGTGTGGAC 0.488000 9 67 0.00829132 0.00914701 1 1 0 PGBD1 84547 broad.mit.edu 37 6 28269741 28269741 + Missense_Mutation SNP A A T TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr6:28269741A>T ENST00000405948.2 + 7 2530 c.2110A>T c.(2110-2112)Ata>Tta p.I704L PGBD1_ENST00000259883.3_Missense_Mutation_p.I704L NM_001184743.1|NM_032507.3 NP_001171672.1|NP_115896.1 Q96JS3 PGBD1_HUMAN piggyBac transposable element derived 1 704 viral reproduction membrane|nucleus scavenger receptor activity|sequence-specific DNA binding transcription factor activity endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2) 41 TGCTGTGGGCATAGAACCAGT 0.403000 18 133 0 0 1 0 0 SRRT 51593 broad.mit.edu 37 7 100481745 100481745 + Silent SNP G G C TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr7:100481745G>C ENST00000388793.4 + 6 862 c.642G>C c.(640-642)cgG>cgC p.R214R SRRT_ENST00000457580.2_Silent_p.R214R|SRRT_ENST00000432932.1_Silent_p.R214R|SRRT_ENST00000347433.4_Silent_p.R214R NM_001128852.1|NM_015908.5 NP_001122324.1|NP_056992.4 Q9BXP5 SRRT_HUMAN serrate RNA effector molecule homolog (Arabidopsis) 214 cell proliferation|primary miRNA processing|response to arsenic-containing substance cytoplasm|nucleoplasm protein binding breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 40 AGGAGGCCCGGGGGGCCCTGC 0.557000 11 49 0 0 1 0 0 HOXB3 3213 broad.mit.edu 37 17 46627923 46627923 + Missense_Mutation SNP C C A TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr17:46627923C>A ENST00000470495.1 - 2 2516 c.1069G>T c.(1069-1071)Ggc>Tgc p.G357C HOXB-AS1_ENST00000502764.2_RNA|HOXB-AS1_ENST00000435312.1_RNA|HOXB3_ENST00000485909.2_Missense_Mutation_p.G225C|HOXB3_ENST00000498678.1_Missense_Mutation_p.G357C|HOXB3_ENST00000476342.1_Missense_Mutation_p.G357C|HOXB3_ENST00000472863.1_Missense_Mutation_p.G284C|HOXB-AS1_ENST00000508688.1_RNA|HOXB-AS3_ENST00000465846.2_RNA|HOXB3_ENST00000460160.1_Missense_Mutation_p.G225C|HOXB3_ENST00000311626.4_Missense_Mutation_p.G357C|HOXB3_ENST00000490677.1_Missense_Mutation_p.G223C|HOXB3_ENST00000489475.1_Missense_Mutation_p.G284C P14651 HXB3_HUMAN homeobox B3 357 angiogenesis nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(16)|prostate(4)|upper_aerodigestive_tract(1) 30 TCCGCGTAGCCGCCCCCGCCC 0.716000 OREG0024516 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 6 0.0381472 0.0409192 1 1 0 ZNF221 7638 broad.mit.edu 37 19 44470922 44470922 + Missense_Mutation SNP A A T TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr19:44470922A>T ENST00000251269.5 + 6 1596 c.1268A>T c.(1267-1269)aAa>aTa p.K423I ZNF221_ENST00000587682.1_Missense_Mutation_p.K423I|ZNF221_ENST00000592350.1_Missense_Mutation_p.K423I NM_013359.2 NP_037491.2 Q9UK13 ZN221_HUMAN zinc finger protein 221 423 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(11)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 30 Prostate(69;0.0352) AAATCCTTCAAATGTGAAGAA 0.413000 10 36 0 0 1 0 0 PPFIA2 8499 broad.mit.edu 37 12 81768487 81768487 + Missense_Mutation SNP G G T TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr12:81768487G>T ENST00000550584.2 - 10 1487 c.1192C>A c.(1192-1194)Cag>Aag p.Q398K PPFIA2_ENST00000333447.7_Missense_Mutation_p.Q380K|PPFIA2_ENST00000552948.1_Missense_Mutation_p.Q398K|PPFIA2_ENST00000550359.2_Missense_Mutation_p.Q245K|PPFIA2_ENST00000443686.3_Missense_Mutation_p.Q299K|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000549325.1_Missense_Mutation_p.Q380K|PPFIA2_ENST00000548586.1_Missense_Mutation_p.Q398K|PPFIA2_ENST00000549396.1_Missense_Mutation_p.Q398K|PPFIA2_ENST00000407050.4_Missense_Mutation_p.Q324K NM_001220473.1 NP_001207402.1 B7Z663 B7Z663_HUMAN protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2 324 NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5) 85 CTCATGGTCTGCTGCAACTTT 0.458000 5 27 0.000602214 0.000694002 1 1 0 CCDC129 223075 broad.mit.edu 37 7 31682641 31682641 + Missense_Mutation SNP G G T TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr7:31682641G>T ENST00000319386.3 + 11 2206 c.1213G>T c.(1213-1215)Gtc>Ttc p.V405F CCDC129_ENST00000409210.1_Missense_Mutation_p.V461F|CCDC129_ENST00000451887.2_Missense_Mutation_p.V579F|CCDC129_ENST00000407970.3_Missense_Mutation_p.V553F Q6ZRS4 CC129_HUMAN coiled-coil domain containing 129 553 cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31) 44 TGAGTATGAGGTCACCAGACC 0.547000 32 118 4.62619e-21 8.01184e-21 1 1 0 KCNT1 57582 broad.mit.edu 37 9 138651666 138651666 + Silent SNP C C G TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr9:138651666C>G ENST00000298480.5 + 11 1070 c.996C>G c.(994-996)gtC>gtG p.V332V KCNT1_ENST00000491806.2_Silent_p.V299V|KCNT1_ENST00000486577.2_Silent_p.V293V|KCNT1_ENST00000487664.1_Silent_p.V287V|KCNT1_ENST00000263604.3_Silent_p.V313V|KCNT1_ENST00000488444.2_Silent_p.V313V|KCNT1_ENST00000490355.2_Silent_p.V313V|KCNT1_ENST00000371757.2_Silent_p.V332V B7ZVY4 B7ZVY4_HUMAN potassium channel, subfamily T, member 1 332 membrane binding|calcium-activated potassium channel activity breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 50 Myeloproliferative disorder(178;0.0821) OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05) TGCTGGTGGTCATCATGATCT 0.632000 5 27 0 0 1 0 0 CXCR2 3579 broad.mit.edu 37 2 218999803 218999803 + Silent SNP C C A TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr2:218999803C>A ENST00000318507.2 + 3 706 c.279C>A c.(277-279)gcC>gcA p.A93A NM_001557.3 NP_001548.1 P25025 CXCR2_HUMAN chemokine (C-X-C motif) receptor 2 93 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cellular defense response|dendritic cell chemotaxis|inflammatory response|neutrophil activation|neutrophil chemotaxis|positive regulation of cell proliferation cell surface|integral to plasma membrane|mast cell granule interleukin-8 receptor activity breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(11)|skin(1)|stomach(1) 22 TAGCCTTGGCCGACCTACTCT 0.572000 26 107 8.58068e-18 1.44566e-17 1 1 0 NMNAT2 23057 broad.mit.edu 37 1 183221856 183221856 + Missense_Mutation SNP C C T TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr1:183221856C>T ENST00000287713.6 - 11 1178 c.844G>A c.(844-846)Ggc>Agc p.G282S NMNAT2_ENST00000294868.4_Missense_Mutation_p.G277S NM_015039.3 NP_055854.1 Q9BZQ4 NMNA2_HUMAN nicotinamide nucleotide adenylyltransferase 2 282 water-soluble vitamin metabolic process Golgi membrane|nucleus ATP binding|nicotinamide-nucleotide adenylyltransferase activity|nicotinate-nucleotide adenylyltransferase activity p.G282S(3) endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(7)|skin(2) 18 ACAACATGGCCGTCCCCATGC 0.582000 32 53 0 0 1 0 0 PCDH10 57575 broad.mit.edu 37 4 134073431 134073431 + Silent SNP A A G TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr4:134073431A>G ENST00000264360.4 + 1 2962 c.2136A>G c.(2134-2136)ctA>ctG p.L712L NM_032961.1 NP_116586.1 Q9P2E7 PCD10_HUMAN protocadherin 10 712 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2) 136 LUSC - Lung squamous cell carcinoma(193;0.227) AAACCTCGCTAGACCTCACCC 0.662000 10 64 0 0 1 0 0 TRIM67 440730 broad.mit.edu 37 1 231298752 231298752 + Missense_Mutation SNP C C G TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr1:231298752C>G ENST00000444294.3 + 1 895 c.37C>G c.(37-39)Ctg>Gtg p.L13V TRIM67_ENST00000366652.2_Missense_Mutation_p.L13V|TRIM67_ENST00000449018.3_Missense_Mutation_p.L13V|TRIM67_ENST00000366653.5_Missense_Mutation_p.L13V NM_001004342.3 NP_001004342.3 Q6ZTA4 TRI67_HUMAN tripartite motif containing 67 13 cytoplasm|cytoskeleton zinc ion binding breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 29 Breast(184;0.0871) all_cancers(173;0.189)|Prostate(94;0.167) GTGCGGCTCTCTGTTTCGGGA 0.667000 3 23 0 0 1 0 0 KIAA1109 84162 broad.mit.edu 37 4 123175486 123175486 + Missense_Mutation SNP C C G TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr4:123175486C>G ENST00000264501.4 + 38 6432 c.6059C>G c.(6058-6060)aCa>aGa p.T2020R KIAA1109_ENST00000455637.1_Missense_Mutation_p.T2020R|KIAA1109_ENST00000388738.3_Missense_Mutation_p.T2020R Q2LD37 K1109_HUMAN KIAA1109 2020 regulation of cell growth|regulation of epithelial cell differentiation integral to membrane|nucleus breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3) 172 AGATCTCACACACATGCATTT 0.323000 8 34 0 0 1 0 0 POLE 5426 broad.mit.edu 37 12 133220029 133220029 + Missense_Mutation SNP T T A TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr12:133220029T>A ENST00000320574.5 - 34 4451 c.4408A>T c.(4408-4410)Atg>Ttg p.M1470L POLE_ENST00000535270.1_Missense_Mutation_p.M1443L NM_006231.2 NP_006222.2 Q07864 DPOE1_HUMAN polymerase (DNA directed), epsilon, catalytic subunit 1470 base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair nucleoplasm chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 89 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0416) OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05) AGAGAGCGCATCTCCAGGTGC 0.597000 DNA polymerases (catalytic subunits) 7 93 0 0 1 0 0 OR5AS1 219447 broad.mit.edu 37 11 55798471 55798471 + Missense_Mutation SNP C C A TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr11:55798471C>A ENST00000313555.1 + 1 577 c.577C>A c.(577-579)Cag>Aag p.Q193K NM_001001921.1 NP_001001921.1 Q8N127 O5AS1_HUMAN olfactory receptor, family 5, subfamily AS, member 1 193 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1) 48 Esophageal squamous(21;0.00693) TACAGACACTCAGATCAACCA 0.418000 28 206 3.76114e-14 5.97924e-14 1 1 0 PRDM7 11105 broad.mit.edu 37 16 90126823 90126823 + Missense_Mutation SNP T T G TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr16:90126823T>G ENST00000449207.2 - 9 1178 c.1159A>C c.(1159-1161)Atg>Ctg p.M387L PRDM7_ENST00000407825.1_Intron|PRDM7_ENST00000325921.6_Intron NM_001098173.1 NP_001091643.1 Q9NQW5 PRDM7_HUMAN PR domain containing 7 387 chromosome|nucleus nucleic acid binding lung(2)|ovary(2)|stomach(1) 5 all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194) BRCA - Breast invasive adenocarcinoma(80;0.0278) CTCATCCCCATACCAGACCAG 0.522000 5 74 0 0 1 0 0 SEMA3A 10371 broad.mit.edu 37 7 83739879 83739879 + Silent SNP T T A TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr7:83739879T>A ENST00000265362.3 - 4 674 c.360A>T c.(358-360)gtA>gtT p.V120V SEMA3A_ENST00000436949.1_Silent_p.V120V NM_006080.2 NP_006071.1 Q14563 SEM3A_HUMAN sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A 120 Sema. axon guidance extracellular region|membrane receptor activity breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 53 ATGCCTTAAGTACCTTGATGA 0.428000 13 58 0 0 1 0 0 SUV420H1 51111 broad.mit.edu 37 11 67953299 67953299 + Missense_Mutation SNP C C G TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr11:67953299C>G ENST00000304363.4 - 3 610 c.257G>C c.(256-258)aGt>aCt p.S86T SUV420H1_ENST00000402185.2_Missense_Mutation_p.S86T|SUV420H1_ENST00000401547.2_Missense_Mutation_p.S86T|SUV420H1_ENST00000402789.1_Missense_Mutation_p.S86T|SUV420H1_ENST00000405515.1_Missense_Mutation_p.S86T NM_017635.3 NP_060105.3 Q4FZB7 SV421_HUMAN suppressor of variegation 4-20 homolog 1 (Drosophila) 86 regulation of transcription, DNA-dependent|transcription, DNA-dependent protein binding NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(15)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 46 AAGAACCAAACTGGTTGCTAG 0.393000 12 50 0 0 1 0 0 CHGB 1114 broad.mit.edu 37 20 5904213 5904213 + Missense_Mutation SNP G G T TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr20:5904213G>T ENST00000378961.4 + 4 1627 c.1423G>T c.(1423-1425)Ggt>Tgt p.G475C NM_001819.2 NP_001810.2 P05060 SCG1_HUMAN chromogranin B (secretogranin 1) 475 extracellular region hormone activity breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1) 47 TCTCAACTACGGTGAGGAAGG 0.512000 3 85 1 1 1 1 0 ME3 10873 broad.mit.edu 37 11 86209163 86209163 + Missense_Mutation SNP C C A TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr11:86209163C>A ENST00000543262.1 - 6 873 c.547G>T c.(547-549)Gtg>Ttg p.V183L ME3_ENST00000359636.2_Missense_Mutation_p.V183L|ME3_ENST00000525957.1_5'UTR|ME3_ENST00000393324.3_Missense_Mutation_p.V183L|RP11-317J19.1_ENST00000524610.1_RNA|ME3_ENST00000323418.6_Missense_Mutation_p.V121L NM_001161586.1 NP_001155058.1 Q16798 MAON_HUMAN malic enzyme 3, NADP(+)-dependent, mitochondrial 183 aerobic respiration|malate metabolic process|oxygen metabolic process|pyruvate metabolic process mitochondrial matrix malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|metal ion binding|NAD binding endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(2)|skin(3)|stomach(2)|urinary_tract(1) 27 Acute lymphoblastic leukemia(157;4.34e-06)|all_hematologic(158;0.00252) NADH(DB00157) GTCACCACCACGGCCTGAAAA 0.622000 10 69 2.27111e-07 3.06106e-07 1 1 0 ZCCHC16 340595 broad.mit.edu 37 X 111698533 111698533 + Nonsense_Mutation SNP C C T TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chrX:111698533C>T ENST00000340433.2 + 1 807 c.577C>T c.(577-579)Cag>Tag p.Q193* NM_001004308.2 NP_001004308.2 Q6ZR62 ZCH16_HUMAN zinc finger, CCHC domain containing 16 193 nucleic acid binding|zinc ion binding p.Q193K(2) cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 27 TGATCCCAACCAGGATGAAGA 0.473000 19 76 0 0 1 0 0 ARHGAP24 83478 broad.mit.edu 37 4 86491764 86491764 + Missense_Mutation SNP G G T TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr4:86491764G>T ENST00000395184.1 + 2 536 c.70G>T c.(70-72)Ggg>Tgg p.G24W ARHGAP24_ENST00000506421.1_3'UTR|ARHGAP24_ENST00000503995.1_Missense_Mutation_p.G24W NM_001025616.2 NP_001020787.2 Q8N264 RHG24_HUMAN Rho GTPase activating protein 24 24 PH. angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cell projection|cytoskeleton|cytosol|focal adhesion GTPase activator activity|protein binding breast(3)|cervix(1)|endometrium(3)|large_intestine(4)|lung(10)|skin(1)|stomach(1)|urinary_tract(1) 24 Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242) OV - Ovarian serous cystadenocarcinoma(123;0.000571) CATCAAGTGTGGGTGGCTGAG 0.488000 7 44 0.00307968 0.00344657 1 1 0 FAT3 120114 broad.mit.edu 37 11 92086148 92086148 + Missense_Mutation SNP A A T TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr11:92086148A>T ENST00000298047.6 + 1 887 c.870A>T c.(868-870)ttA>ttT p.L290F FAT3_ENST00000541502.1_Missense_Mutation_p.L290F|FAT3_ENST00000409404.2_Missense_Mutation_p.L290F|FAT3_ENST00000525166.1_Missense_Mutation_p.L140F Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 290 Cadherin 3. homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) TTGATGACTTAGATGATGGAG 0.443000 TCGA Ovarian(4;0.039) 3 37 0 0 1 0 0 SPRED2 200734 broad.mit.edu 37 2 65571931 65571931 + Silent SNP C C A TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr2:65571931C>A ENST00000356388.4 - 2 315 c.126G>T c.(124-126)ggG>ggT p.G42G SPRED2_ENST00000474228.1_5'UTR|SPRED2_ENST00000443619.2_Silent_p.G39G NM_181784.2 NP_861449.2 Q7Z698 SPRE2_HUMAN sprouty-related, EVH1 domain containing 2 42 WH1. inactivation of MAPK activity|multicellular organismal development transport vesicle membrane stem cell factor receptor binding breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(7)|ovary(2)|upper_aerodigestive_tract(3) 34 CCTTACAGACCCCGACGCGAC 0.542000 13 29 4.3838e-07 5.78289e-07 1 1 0 IL13 3596 broad.mit.edu 37 5 131995902 131995902 + Silent SNP C C A rs78628956 by1000genomes TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr5:131995902C>A ENST00000304506.3 + 4 383 c.369C>A c.(367-369)atC>atA p.I123I IL13_ENST00000468334.1_3'UTR|AC004041.2_ENST00000435042.1_RNA NM_002188.2 NP_002179.2 P35225 IL13_HUMAN interleukin 13 123 cellular component movement|immune response|inflammatory response|signal transduction extracellular space|soluble fraction cytokine activity large_intestine(1)|lung(1)|ovary(1)|skin(3) 6 all_cancers(142;0.0751)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) ACACCAAAATCGAGGTGGCCC 0.483000 3 37 0.004672 0.00517257 1 1 0 CCDC60 160777 broad.mit.edu 37 12 119772994 119772994 + Missense_Mutation SNP C C A TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr12:119772994C>A ENST00000327554.2 + 1 478 c.13C>A c.(13-15)Cca>Aca p.P5T CCDC60_ENST00000539847.1_Missense_Mutation_p.P5T|CCDC60_ENST00000546345.1_3'UTR|CCDC60_ENST00000536742.1_Missense_Mutation_p.P5T NM_178499.3 NP_848594.2 Q8IWA6 CCD60_HUMAN coiled-coil domain containing 60 5 endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 40 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.207) GACCAAGGTTCCAGCCACCAA 0.493000 4 62 0.00909568 0.0099988 1 1 0 CDC27 996 broad.mit.edu 37 17 45219643 45219643 + Missense_Mutation SNP T T C rs77510601 TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr17:45219643T>C ENST00000066544.3 - 11 1423 c.1330A>G c.(1330-1332)Aca>Gca p.T444A CDC27_ENST00000531206.1_Missense_Mutation_p.T450A|CDC27_ENST00000527547.1_Missense_Mutation_p.T444A|CDC27_ENST00000446365.2_Missense_Mutation_p.T383A NM_001114091.1|NM_001256.3 NP_001107563.1|NP_001247.3 P30260 CDC27_HUMAN cell division cycle 27 444 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule protein phosphatase binding NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2) 90 GGTGTGATTGTGGATATTTTC 0.308000 4 30 0 0 1 0 0 AHNAK 79026 broad.mit.edu 37 11 62303495 62303495 + Missense_Mutation SNP C C A TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr11:62303495C>A ENST00000378024.4 - 3 350 c.76G>T c.(76-78)Gcc>Tcc p.A26S AHNAK_ENST00000530124.1_Missense_Mutation_p.A26S|AHNAK_ENST00000257247.7_Missense_Mutation_p.A26S NM_001620.1 NP_001611.1 Q09666 AHNK_HUMAN AHNAK nucleoprotein 26 PDZ. nervous system development nucleus protein binding NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 268 Melanoma(852;0.155) TCCCTCTGGGCGATGGTCAGC 0.637000 8 54 7.48243e-07 9.74602e-07 1 1 0 F8 2157 broad.mit.edu 37 X 154158272 154158272 + Missense_Mutation SNP G G T TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chrX:154158272G>T ENST00000360256.4 - 14 3993 c.3793C>A c.(3793-3795)Cca>Aca p.P1265T NM_000132.3 NP_000123.1 P00451 FA8_HUMAN coagulation factor VIII, procoagulant component 1265 B. 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) TGAAGTACTGGAGCATATGCC 0.373000 9 44 1.76689e-08 2.43439e-08 1 1 0 USP9X 8239 broad.mit.edu 37 X 41089775 41089775 + Missense_Mutation SNP C C A TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chrX:41089775C>A ENST00000324545.7 + 44 8134 c.7501C>A c.(7501-7503)Cca>Aca p.P2501T USP9X_ENST00000378308.2_Missense_Mutation_p.P2485T NM_001039590.2|NM_001039591.2 NP_001034679.2|NP_001034680.2 Q93008 USP9X_HUMAN ubiquitin specific peptidase 9, X-linked 2501 BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process cytoplasm co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 87 CCAAGATGCTCCAGATGAACA 0.373000 10 61 1.11149e-13 1.75797e-13 1 1 0 DGKK 139189 broad.mit.edu 37 X 50213148 50213148 + RNA SNP G G T TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chrX:50213148G>T ENST00000376025.2 - 0 589 Q5KSL6 DGKK_HUMAN diacylglycerol kinase, kappa activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress cytoplasm|plasma membrane ATP binding|diacylglycerol kinase activity|metal ion binding central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 Ovarian(276;0.236) ACATGGTGCTGGACTTGGACG 0.612000 4 21 0.000602214 0.000694002 1 1 0 STAB1 23166 broad.mit.edu 37 3 52557091 52557091 + Missense_Mutation SNP T T C TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr3:52557091T>C ENST00000321725.6 + 63 7037 c.6961T>C c.(6961-6963)Tgc>Cgc p.C2321R NM_015136.2 NP_055951.2 Q9NY15 STAB1_HUMAN stabilin 1 2321 cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis integral to plasma membrane bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3) 76 BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482) GATCAGCACGTGCAATGGGAA 0.622000 12 133 0 0 1 0 0 KCNJ6 3763 broad.mit.edu 37 21 39086663 39086663 + Missense_Mutation SNP G G T TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr21:39086663G>T ENST00000400482.3 - 3 1386 c.797C>A c.(796-798)aCg>aAg p.T266K KCNJ6_ENST00000288309.6_Missense_Mutation_p.T266K NM_002240.3 NP_002231.1 P48051 IRK6_HUMAN potassium inwardly-rectifying channel, subfamily J, member 6 266 synaptic transmission Golgi apparatus|voltage-gated potassium channel complex G-protein activated inward rectifier potassium channel activity|protein binding breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 22 Halothane(DB01159) GTCATCCCCCGTGTAATACCC 0.507000 29 70 1.06647e-15 1.74003e-15 1 1 0 TMED10 10972 broad.mit.edu 37 14 75614413 75614413 + Missense_Mutation SNP A A T TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr14:75614413A>T ENST00000303575.4 - 3 416 c.365T>A c.(364-366)gTg>gAg p.V122E TMED10_ENST00000557670.1_5'UTR NM_006827.5 NP_006818.3 P49755 TMEDA_HUMAN transmembrane emp24-like trafficking protein 10 (yeast) 122 GOLD. protein transport|regulated secretory pathway|vesicle targeting, to, from or within Golgi cis-Golgi network|ER-Golgi intermediate compartment|Golgi membrane|integral to membrane|melanosome|microsome|zymogen granule membrane protein binding endometrium(1)|large_intestine(5)|lung(3) 9 BRCA - Breast invasive adenocarcinoma(234;0.0126) GTCTAGGATCACGAGTTGGTC 0.483000 48 172 0 0 1 0 0 DIS3 22894 broad.mit.edu 37 13 73352425 73352425 + Silent SNP C C T TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr13:73352425C>T ENST00000377767.4 - 3 580 c.480G>A c.(478-480)ttG>ttA p.L160L DIS3_ENST00000545453.1_5'UTR|DIS3_ENST00000377780.4_Silent_p.L130L NM_014953.3 NP_055768.3 Q9Y2L1 RRP44_HUMAN DIS3 mitotic control homolog (S. cerevisiae) 160 PINc. CUT catabolic process|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA catabolic process|rRNA processing cytosol|exosome (RNase complex)|nucleolus|nucleoplasm 3'-5'-exoribonuclease activity|endonuclease activity|guanyl-nucleotide exchange factor activity|protein binding|RNA binding central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(7)|kidney(5)|large_intestine(10)|lung(6)|prostate(2)|skin(1) 35 Breast(118;0.0074)|Acute lymphoblastic leukemia(28;0.0195) GBM - Glioblastoma multiforme(99;0.000181) ACATTTTTTTCAAATGTTCAT 0.373000 Multiple Myeloma(4;0.011) 4 27 0 0 1 0 0 FOXK2 3607 broad.mit.edu 37 17 80543836 80543836 + Missense_Mutation SNP G G T rs139089969 TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr17:80543836G>T ENST00000335255.5 + 7 1510 c.1336G>T c.(1336-1338)Gcc>Tcc p.A446S NM_004514.3 NP_004505.2 Q01167 FOXK2_HUMAN forkhead box K2 446 embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|magnesium ion 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 NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|urinary_tract(1) 17 Breast(20;0.00106)|all_neural(118;0.0952) OV - Ovarian serous cystadenocarcinoma(97;0.0371)|BRCA - Breast invasive adenocarcinoma(99;0.0415) GCTACCACAGGCCATCAAGCC 0.587000 31 77 1.36615e-20 2.33981e-20 1 1 0 SLIT2 9353 broad.mit.edu 37 4 20469408 20469408 + Silent SNP A A T TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr4:20469408A>T ENST00000504154.1 + 5 681 c.429A>T c.(427-429)ccA>ccT p.P143P SLIT2_ENST00000503837.1_Silent_p.P143P|SLIT2_ENST00000273739.5_Silent_p.P143P|SLIT2_ENST00000503823.1_Silent_p.P143P NM_004787.1 NP_004778.1 O94813 SLIT2_HUMAN slit homolog 2 (Drosophila) 143 apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development cell surface|cytoplasm|extracellular space|plasma membrane calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1) 116 AGGCAATCCCAAGGAAAGCTT 0.274000 5 21 0 0 1 0 0 KIF17 57576 broad.mit.edu 37 1 20992805 20992805 + Missense_Mutation SNP A A T TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr1:20992805A>T ENST00000247986.2 - 14 3123 c.2813T>A c.(2812-2814)cTc>cAc p.L938H KIF17_ENST00000375044.1_Missense_Mutation_p.L838H|KIF17_ENST00000400463.3_Missense_Mutation_p.L937H|KIF17_ENST00000490034.1_5'UTR Q9P2E2 KIF17_HUMAN kinesin family member 17 938 microtubule-based movement|protein transport cytoplasm|microtubule ATP binding NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 50 all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209) ACTGAGCATGAGCCTGTAGCG 0.597000 33 101 0 0 1 0 0 COL4A4 1286 broad.mit.edu 37 2 227945211 227945211 + Missense_Mutation SNP C C A TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr2:227945211C>A ENST00000396625.3 - 24 1958 c.1751G>T c.(1750-1752)gGa>gTa p.G584V COL4A4_ENST00000329662.7_Missense_Mutation_p.G584V NM_000092.4 NP_000083.3 P53420 CO4A4_HUMAN collagen, type IV, alpha 4 584 Triple-helical region. axon guidance|glomerular basement membrane development basal lamina|collagen type IV extracellular matrix structural constituent|protein binding breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 98 Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242) Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181) ACCATGTGATCCTGGCTGCCC 0.473000 29 101 0.000339439 0.000398583 1 1 0 FOLH1B 219595 broad.mit.edu 37 11 89405081 89405081 + RNA SNP C C A TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr11:89405081C>A ENST00000532352.1 + 0 1021 Q9HBA9 FOH1B_HUMAN folate hydrolase 1B proteolysis cytoplasm dipeptidase activity|metal ion binding|metallopeptidase activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2) 48 GGGAGGTCACCGGGACTCATG 0.418000 5 44 3.59834e-05 4.44416e-05 1 1 0 EPHA5 2044 broad.mit.edu 37 4 66242723 66242723 + Missense_Mutation SNP G G C TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr4:66242723G>C ENST00000273854.3 - 9 2449 c.1849C>G c.(1849-1851)Cta>Gta p.L617V EPHA5_ENST00000354839.4_Intron|EPHA5_ENST00000432638.2_Missense_Mutation_p.L454V|EPHA5_ENST00000511294.1_Missense_Mutation_p.L618V NM_004439.5 NP_004430.4 P54756 EPHA5_HUMAN EPH receptor A5 617 cAMP-mediated signaling|neuron development dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum ATP binding|transmembrane-ephrin receptor activity autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 142 AACCATATTAGGCTTGGATGG 0.473000 TSP Lung(17;0.13) 3 23 0 0 1 0 0 GABRG3 2567 broad.mit.edu 37 15 27777771 27777771 + Missense_Mutation SNP C C A TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr15:27777771C>A ENST00000333743.6 + 10 1402 c.1148C>A c.(1147-1149)cCa>cAa p.P383Q RP11-100M12.3_ENST00000556642.1_RNA NM_033223.4 NP_150092.2 Q99928 GBRG3_HUMAN gamma-aminobutyric acid (GABA) A receptor, gamma 3 383 gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(23)|skin(1)|upper_aerodigestive_tract(4) 42 all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235) all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261) GACATGAGGCCACCACCAACT 0.433000 7 27 8.12818e-05 9.92022e-05 1 1 0 GPR171 29909 broad.mit.edu 37 3 150917131 150917131 + Missense_Mutation SNP C C G TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr3:150917131C>G ENST00000309180.5 - 3 273 c.43G>C c.(43-45)Gag>Cag p.E15Q MED12L_ENST00000474524.1_Intron|MED12L_ENST00000273432.4_Intron NM_013308.3 NP_037440.3 O14626 GP171_HUMAN G protein-coupled receptor 171 15 integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled endometrium(1)|kidney(4)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1) 15 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) GTGAATGGCTCCAGATCTTTA 0.348000 7 31 0 0 1 0 0 P2RY10 27334 broad.mit.edu 37 X 78216608 78216608 + Silent SNP G G T TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chrX:78216608G>T ENST00000171757.2 + 4 871 c.591G>T c.(589-591)ggG>ggT p.G197G P2RY10_ENST00000544091.1_Silent_p.G197G NM_014499.2 NP_055314.1 O00398 P2Y10_HUMAN purinergic receptor P2Y, G-protein coupled, 10 197 integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(22)|ovary(3)|skin(2) 42 CGTTGGTCGGGATGATTACAG 0.453000 4 58 0.0215528 0.0235259 1 1 0 SPATA31E1 286234 broad.mit.edu 37 9 90501513 90501513 + Missense_Mutation SNP A A G TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr9:90501513A>G ENST00000325643.5 + 4 2177 c.2111A>G c.(2110-2112)gAc>gGc p.D704G NM_178828.4 NP_849150.3 SPATA31 subfamily E, member 1 AGGTTCTCTGACAAGGGGTGC 0.597000 19 44 0 0 1 0 0 RNF17 56163 broad.mit.edu 37 13 25370318 25370318 + Nonsense_Mutation SNP C C A TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr13:25370318C>A ENST00000255324.5 + 11 1336 c.1284C>A c.(1282-1284)tgC>tgA p.C428* RNF17_ENST00000381921.1_Nonsense_Mutation_p.C428*|RNF17_ENST00000255326.4_3'UTR|RNF17_ENST00000255325.5_Nonsense_Mutation_p.C429* NM_001184993.1|NM_031277.2 NP_001171922.1|NP_112567.2 Q9BXT8 RNF17_HUMAN ring finger protein 17 428 multicellular organismal development cytoplasm|nucleus hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6) 36 Lung SC(185;0.0225)|Breast(139;0.077) all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524) TAGATCCTTGCCATTTCTACA 0.348000 4 56 1 1 1 1 0 KLHDC8A 55220 broad.mit.edu 37 1 205312401 205312401 + Missense_Mutation SNP C C T TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr1:205312401C>T ENST00000367156.3 - 5 1148 c.332G>A c.(331-333)aGc>aAc p.S111N KLHDC8A_ENST00000537168.1_Intron|KLHDC8A_ENST00000367155.3_Missense_Mutation_p.S111N|KLHDC8A_ENST00000460687.1_Intron|KLHDC8A_ENST00000539253.1_Missense_Mutation_p.S111N NM_001271863.1 NP_001258792.1 Q8IYD2 KLD8A_HUMAN kelch domain containing 8A 111 breast(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 14 Breast(84;0.23) BRCA - Breast invasive adenocarcinoma(75;0.117) ACGCAGCATGCTCCTCTTCTT 0.622000 13 190 0 0 1 0 0 FAM47C 442444 broad.mit.edu 37 X 37027156 37027156 + Missense_Mutation SNP C C G TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chrX:37027156C>G ENST00000358047.3 + 1 725 c.673C>G c.(673-675)Cag>Gag p.Q225E NM_001013736.2 NP_001013758.1 Q5HY64 FA47C_HUMAN family with sequence similarity 47, member C 225 breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1) 120 TCTCCGCCCACAGCCTCCCAA 0.647000 6 62 0 0 1 0 0 ZFHX4 79776 broad.mit.edu 37 8 77761908 77761908 + Missense_Mutation SNP A A G TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr8:77761908A>G ENST00000521891.2 + 8 4254 c.3806A>G c.(3805-3807)cAc>cGc p.H1269R ZFHX4_ENST00000050961.6_Missense_Mutation_p.H1224R|ZFHX4_ENST00000518282.1_Missense_Mutation_p.H1243R|ZFHX4_ENST00000455469.2_Missense_Mutation_p.H1224R NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 1224 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6) 432 BRCA - Breast invasive adenocarcinoma(89;0.0895) ACGCATTTGCACAGTGTGTCT 0.463000 HNSCC(33;0.089) 6 27 0 0 1 0 0 ACVR1C 130399 broad.mit.edu 37 2 158412698 158412698 + Missense_Mutation SNP C C T TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr2:158412698C>T ENST00000243349.7 - 3 811 c.451G>A c.(451-453)Gtg>Atg p.V151M ACVR1C_ENST00000409680.3_Missense_Mutation_p.V101M|ACVR1C_ENST00000335450.7_Intron|ACVR1C_ENST00000348328.5_Intron NM_145259.2 NP_660302.2 Q8NER5 ACV1C_HUMAN activin A receptor, type IC 151 apoptosis|cell differentiation|regulation of apoptosis activin receptor complex activin receptor activity, type I|ATP binding|transforming growth factor beta receptor activity p.V151L(1) 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 GGTTCCTCCACATTTGGTCTC 0.478000 7 25 0 0 1 0 0 C6orf118 168090 broad.mit.edu 37 6 165715076 165715076 + Missense_Mutation SNP G G T TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr6:165715076G>T ENST00000543069.1 - 2 1004 c.423C>A c.(421-423)caC>caA p.H141Q C6orf118_ENST00000230301.8_Missense_Mutation_p.H245Q Q5T5N4 CF118_HUMAN chromosome 6 open reading frame 118 245 breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 40 Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157) OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313) GCTTTCTCTCGTGGCCCGCGG 0.602000 10 49 6.40141e-05 7.87475e-05 1 1 0 BPIFB3 359710 broad.mit.edu 37 20 31644416 31644416 + Silent SNP C C A TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr20:31644416C>A ENST00000375494.3 + 2 193 c.193C>A c.(193-195)Cgg>Agg p.R65R NM_182658.1 NP_872599.1 P59826 LPLC3_HUMAN BPI fold containing family B, member 3 65 Leu-rich. innate immune response cytoplasm|extracellular region lipid binding|protein binding AGCTGTGAACCGGGGCCTCTT 0.607000 18 50 1.01871e-10 1.51101e-10 1 1 0 FAM127A 8933 broad.mit.edu 37 X 134166554 134166554 + Silent SNP G G T TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chrX:134166554G>T ENST00000257013.7 + 1 222 c.141G>T c.(139-141)acG>acT p.T47T FAM127A_ENST00000464369.1_3'UTR NM_001078171.1 NP_001071639.1 A6ZKI3 F127A_HUMAN family with sequence similarity 127, member A 47 endometrium(3)|urinary_tract(1) 4 Acute lymphoblastic leukemia(192;0.000127) TCGTGCAGACGGGCTCCTACA 0.637000 16 71 1.96292e-10 2.85684e-10 1 1 0 AASDH 132949 broad.mit.edu 37 4 57215650 57215650 + Missense_Mutation SNP T T A TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr4:57215650T>A ENST00000205214.6 - 11 2447 c.2267A>T c.(2266-2268)cAt>cTt p.H756L AASDH_ENST00000502617.1_Missense_Mutation_p.H756L|AASDH_ENST00000434343.2_Missense_Mutation_p.H271L|AASDH_ENST00000513376.1_Missense_Mutation_p.H656L|AASDH_ENST00000602986.1_Missense_Mutation_p.H603L|AASDH_ENST00000451613.1_Missense_Mutation_p.H756L NM_181806.2 NP_861522.2 Q4L235 ACSF4_HUMAN aminoadipate-semialdehyde dehydrogenase 756 fatty acid metabolic process acid-thiol ligase activity|acyl carrier activity|ATP binding|cofactor binding endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1) 40 Glioma(25;0.08)|all_neural(26;0.101) all_hematologic(202;0.0017) CCACCTCACATGTAACTCCAT 0.433000 14 81 0 0 1 0 0 SLCO5A1 81796 broad.mit.edu 37 8 70744391 70744391 + Missense_Mutation SNP C C A TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr8:70744391C>A ENST00000260126.3 - 2 1224 c.518G>T c.(517-519)tGc>tTc p.C173F SLCO5A1_ENST00000528658.1_5'UTR|SLCO5A1_ENST00000524945.1_Missense_Mutation_p.C173F|SLCO5A1_ENST00000530307.1_Missense_Mutation_p.C173F NM_030958.2 NP_112220.2 Q9H2Y9 SO5A1_HUMAN solute carrier organic anion transporter family, member 5A1 173 integral to membrane|plasma membrane transporter activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 53 Breast(64;0.0654) Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594) GATGTCAAAGCAGCTGACCAG 0.612000 8 41 1.12685e-05 1.43165e-05 1 1 0 NAA10 8260 broad.mit.edu 37 X 153197846 153197846 + Silent SNP C C T TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chrX:153197846C>T ENST00000464845.1 - 5 582 c.264G>A c.(262-264)caG>caA p.Q88Q NAA10_ENST00000370015.4_Silent_p.Q88Q|NAA10_ENST00000393710.3_5'UTR|NAA10_ENST00000393712.3_Silent_p.Q88Q|NAA10_ENST00000370009.1_Silent_p.Q88Q NM_001256120.1|NM_003491.3 NP_001243049.1|NP_003482.1 P41227 NAA10_HUMAN N(alpha)-acetyltransferase 10, NatA catalytic subunit 88 N-acetyltransferase. DNA packaging|internal protein amino acid acetylation|N-terminal protein amino acid acetylation cytoplasm|nucleus peptide alpha-N-acetyltransferase activity|protein binding breast(1)|endometrium(3)|kidney(1)|lung(3)|ovary(1)|prostate(1) 10 CCATCAGTTTCTGAGCCAGAC 0.587000 3 41 0 0 1 0 0 ZDHHC12 84885 broad.mit.edu 37 9 131484063 131484063 + Missense_Mutation SNP G G T rs113339803 TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr9:131484063G>T ENST00000372667.5 - 4 420 c.391C>A c.(391-393)Cgc>Agc p.R131S ZDHHC12_ENST00000372663.4_Missense_Mutation_p.R117S|ZDHHC12_ENST00000467312.1_5'UTR|ZDHHC12_ENST00000372672.2_Missense_Mutation_p.R117S Q96GR4 ZDH12_HUMAN zinc finger, DHHC-type containing 12 117 integral to membrane acyltransferase activity|zinc ion binding central_nervous_system(1)|ovary(2)|upper_aerodigestive_tract(1) 4 ACGCAACGGCGGCACTCACGG 0.662000 19 75 2.27731e-05 2.8352e-05 1 1 0 EDNRB 1910 broad.mit.edu 37 13 78474780 78474780 + Missense_Mutation SNP C C A TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr13:78474780C>A ENST00000377211.4 - 6 1383 c.1231G>T c.(1231-1233)Gtg>Ttg p.V411L EDNRB_ENST00000446573.1_Missense_Mutation_p.V321L|EDNRB_ENST00000334286.5_Missense_Mutation_p.V321L NM_001201397.1 NP_001188326.1 P24530 EDNRB_HUMAN endothelin receptor type B 321 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|enteric nervous system development|enteric smooth muscle cell differentiation|macrophage chemotaxis|negative regulation of adenylate cyclase activity|negative regulation of cellular protein metabolic process|negative regulation of neuron maturation|negative regulation of transcription from RNA polymerase II promoter|vein smooth muscle contraction integral to plasma membrane endothelin-B receptor activity|peptide hormone binding breast(2)|endometrium(2)|kidney(1)|large_intestine(18)|lung(16)|skin(3) 42 Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037) GBM - Glioblastoma multiforme(99;0.0933) Bosentan(DB00559) GTTTTGGCCACTTCCCGTCTC 0.408000 4 26 0.150653 0.155158 1 1 0 SPTAN1 6709 broad.mit.edu 37 9 131390214 131390214 + Missense_Mutation SNP C C G TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr9:131390214C>G ENST00000372739.3 + 51 6810 c.6700C>G c.(6700-6702)Ctc>Gtc p.L2234V SPTAN1_ENST00000358161.5_Intron|SPTAN1_ENST00000372731.4_Missense_Mutation_p.L2229V NM_001130438.2 NP_001123910.1 Q13813 SPTA2_HUMAN spectrin, alpha, non-erythrocytic 1 2229 actin filament capping|axon guidance|cellular component disassembly involved in apoptosis cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 87 GACATACCTCCTCGATGGGTT 0.567000 37 453 0 0 1 0 0 USP34 9736 broad.mit.edu 37 2 61516014 61516014 + Splice_Site SNP T T G TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr2:61516014T>G ENST00000398571.2 - 34 4625 c.e34-2 NM_014709.3 NP_055524.3 Q70CQ2 UBP34_HUMAN ubiquitin specific peptidase 34 positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2) 138 Epithelial(17;0.229) TAGCTGCCACTGTAAATGAGA 0.338000 13 52 0 0 1 0 0 KCNJ12 3768 broad.mit.edu 37 17 21319335 21319335 + Silent SNP T T C TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr17:21319335T>C ENST00000583088.1 + 3 1576 c.681T>C c.(679-681)caT>caC p.H227H KCNJ12_ENST00000331718.5_Silent_p.H227H NM_021012.4 NP_066292.2 potassium inwardly-rectifying channel, subfamily J, member 12 NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3) 70 Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732) TGGAGGCCCATGTGCGCGCGC 0.642000 Prostate(3;0.18) 17 48 0 0 1 0 0 DYNC1H1 1778 broad.mit.edu 37 14 102483598 102483598 + Silent SNP T T C TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr14:102483598T>C ENST00000360184.4 + 39 8186 c.8022T>C c.(8020-8022)taT>taC p.Y2674Y NM_001376.4 NP_001367.2 Q14204 DYHC1_HUMAN dynein, cytoplasmic 1, heavy chain 1 2674 AAA 3 (By similarity). cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 166 TGGATAAATATGGGACCCAGA 0.453000 17 59 0 0 1 0 0 ANKRD28 23243 broad.mit.edu 37 3 15762612 15762612 + Missense_Mutation SNP C C T TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr3:15762612C>T ENST00000399451.2 - 8 1083 c.716G>A c.(715-717)gGa>gAa p.G239E ANKRD28_ENST00000383777.1_Missense_Mutation_p.G272E|ANKRD28_ENST00000497037.1_5'UTR NM_001195098.1|NM_001195099.1|NM_015199.3 NP_001182027.1|NP_001182028.1|NP_056014.2 O15084 ANR28_HUMAN ankyrin repeat domain 28 239 nucleoplasm protein binding breast(2)|endometrium(1)|large_intestine(2)|prostate(1) 6 AGGTGTATTTCCATAGGCATT 0.338000 17 195 0 0 1 0 0 PCDHGB3 56102 broad.mit.edu 37 5 140752183 140752183 + Missense_Mutation SNP C C A TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr5:140752183C>A ENST00000576222.1 + 1 2353 c.2222C>A c.(2221-2223)cCc>cAc p.P741H PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA5_ENST00000518069.1_Intron NM_018924.2|NM_032097.1 NP_061747.1|NP_115268.1 endometrium(1)|kidney(1)|lung(3) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGAGTTCTCCCCACCTACAGC 0.498000 13 40 3.27435e-08 4.45197e-08 1 1 0 FMO3 2328 broad.mit.edu 37 1 171077352 171077352 + Missense_Mutation SNP C C G TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr1:171077352C>G ENST00000367755.4 + 5 728 c.617C>G c.(616-618)aCa>aGa p.T206R FMO3_ENST00000542847.1_Missense_Mutation_p.T186R|FMO3_ENST00000392085.2_Missense_Mutation_p.T206R|FMO3_ENST00000538429.1_Missense_Mutation_p.T143R NM_001002294.2 NP_001002294.1 P31513 FMO3_HUMAN flavin containing monooxygenase 3 206 xenobiotic metabolic process integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome flavin adenine dinucleotide binding|flavin-containing monooxygenase activity endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2) 31 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) CTCAGCCGCACAGCAGAACAG 0.502000 19 51 0 0 1 0 0 SCN3A 6328 broad.mit.edu 37 2 165947802 165947802 + Missense_Mutation SNP G G C TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr2:165947802G>C ENST00000360093.3 - 28 5352 c.4861C>G c.(4861-4863)Cga>Gga p.R1621G SCN3A_ENST00000283254.7_Missense_Mutation_p.R1621G|AC013463.2_ENST00000431341.1_RNA|SCN3A_ENST00000540861.1_Missense_Mutation_p.R104G|SCN3A_ENST00000409101.3_Missense_Mutation_p.R1572G NM_001081677.1 NP_001075146.1 Q9NY46 SCN3A_HUMAN sodium channel, voltage-gated, type III, alpha subunit 1621 voltage-gated sodium channel complex voltage-gated sodium channel activity p.R1621*(1) NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3) 120 Lamotrigine(DB00555) CGGATCACTCGGAACAAGGTA 0.448000 26 94 0 0 1 0 0 EPS8L2 64787 broad.mit.edu 37 11 721571 721571 + Missense_Mutation SNP C C G TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr11:721571C>G ENST00000533256.1 + 11 1150 c.775C>G c.(775-777)Ctc>Gtc p.L259V EPS8L2_ENST00000530636.1_Missense_Mutation_p.L259V|AP006621.9_ENST00000527021.2_RNA|EPS8L2_ENST00000318562.8_Missense_Mutation_p.L259V|EPS8L2_ENST00000526198.1_Missense_Mutation_p.L275V Q9H6S3 ES8L2_HUMAN EPS8-like 2 259 cytoplasm NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|pancreas(1)|prostate(2)|soft_tissue(1)|urinary_tract(1) 13 all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136) all cancers(45;4.37e-27)|Epithelial(43;2.81e-26)|OV - Ovarian serous cystadenocarcinoma(40;1.33e-20)|BRCA - Breast invasive adenocarcinoma(625;4.29e-05)|Lung(200;0.0582)|LUSC - Lung squamous cell carcinoma(625;0.0703) CCAGCAAATCCTCAACTGCGC 0.632000 3 15 0 0 1 0 0 PADI3 51702 broad.mit.edu 37 1 17593303 17593303 + Missense_Mutation SNP T T G TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr1:17593303T>G ENST00000375460.3 + 5 538 c.498T>G c.(496-498)aaT>aaG p.N166K NM_016233.2 NP_057317.2 Q9ULW8 PADI3_HUMAN peptidyl arginine deiminase, type III 166 peptidyl-citrulline biosynthetic process from peptidyl-arginine cytoplasm calcium ion binding|protein-arginine deiminase activity breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189) L-Citrulline(DB00155) TCCAGGACAATTGTGACCAGC 0.617000 22 90 0 0 1 0 0 ELTD1 64123 broad.mit.edu 37 1 79387384 79387384 + Missense_Mutation SNP G G T TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr1:79387384G>T ENST00000370742.3 - 9 1234 c.1171C>A c.(1171-1173)Ctg>Atg p.L391M NM_022159.3 NP_071442.2 Q9HBW9 ELTD1_HUMAN EGF, latrophilin and seven transmembrane domain containing 1 391 GPS. neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 69 COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148) GAGTATGTCAGCTCACAGCCC 0.423000 17 61 6.49762e-13 1.00212e-12 1 1 0 L1CAM 3897 broad.mit.edu 37 X 153128302 153128302 + Missense_Mutation SNP C C A TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chrX:153128302C>A ENST00000370060.1 - 29 3779 c.3590G>T c.(3589-3591)gGg>gTg p.G1197V L1CAM_ENST00000543994.1_Missense_Mutation_p.G1199V|L1CAM_ENST00000538883.1_Missense_Mutation_p.G1195V|L1CAM_ENST00000370055.1_Missense_Mutation_p.G1188V|L1CAM_ENST00000361981.3_Missense_Mutation_p.G1188V|L1CAM_ENST00000361699.4_Missense_Mutation_p.G1193V|L1CAM_ENST00000370057.3_Missense_Mutation_p.G1197V NM_001278116.1 NP_001265045.1 P32004 L1CAM_HUMAN L1 cell adhesion molecule 1197 axon guidance|blood coagulation|cell death|leukocyte migration integral to membrane NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 81 all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05) CTTGATGTCCCCGTTGAGCGA 0.607000 7 40 0.0293803 0.0317349 1 1 0 REG1B 5968 broad.mit.edu 37 2 79313983 79313983 + Nonsense_Mutation SNP G G T TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr2:79313983G>T ENST00000305089.3 - 3 218 c.138C>A c.(136-138)taC>taA p.Y46* NM_006507.3 NP_006498.1 P48304 REG1B_HUMAN regenerating islet-derived 1 beta 46 C-type lectin. cell proliferation extracellular region sugar binding central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(40)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 51 AGTAGTAGCAGTAGGAGCGAT 0.517000 37 107 3.61848e-18 6.12966e-18 1 1 0 ABCA12 26154 broad.mit.edu 37 2 215851332 215851332 + Missense_Mutation SNP A A C TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr2:215851332A>C ENST00000272895.7 - 28 4316 c.4097T>G c.(4096-4098)cTg>cGg p.L1366R ABCA12_ENST00000389661.4_Missense_Mutation_p.L1048R NM_173076.2 NP_775099.2 Q86UK0 ABCAC_HUMAN ATP-binding cassette, sub-family A (ABC1), member 12 1366 ABC transporter 1. cellular homeostasis|lipid transport integral to membrane ATP binding|ATPase activity NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 139 Renal(323;0.127) Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011) ATAAAAGTTCAGATTGAGGTT 0.428000 7 54 0 0 1 0 0 IRF6 3664 broad.mit.edu 37 1 209965758 209965758 + Missense_Mutation SNP G G C TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr1:209965758G>C ENST00000367021.3 - 6 695 c.523C>G c.(523-525)Cca>Gca p.P175A IRF6_ENST00000542854.1_Missense_Mutation_p.P80A NM_006147.3 NP_006138.1 O14896 IRF6_HUMAN interferon regulatory factor 6 175 cell cycle arrest|interferon-gamma-mediated signaling pathway|mammary gland epithelial cell differentiation|negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|type I interferon-mediated signaling pathway cytoplasm|nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity cervix(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4) 28 OV - Ovarian serous cystadenocarcinoma(81;0.0351) ACACTGGCTGGCGCCATGGGA 0.547000 HNSCC(57;0.16) 3 40 0 0 1 0 0 LRRTM1 347730 broad.mit.edu 37 2 80530209 80530209 + Missense_Mutation SNP C C A TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr2:80530209C>A ENST00000295057.3 - 2 1392 c.736G>T c.(736-738)Gcc>Tcc p.A246S CTNNA2_ENST00000541047.1_Intron|CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000466387.1_Intron|CTNNA2_ENST00000540488.1_Intron|LRRTM1_ENST00000409148.1_Missense_Mutation_p.A246S|CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000402739.4_Intron NM_178839.4 NP_849161.2 Q86UE6 LRRT1_HUMAN leucine rich repeat transmembrane neuronal 1 246 axon|endoplasmic reticulum membrane|growth cone|integral to membrane NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2) 63 ACCACAATGGCCACCTTGTTC 0.587000 HNSCC(69;0.2) 16 80 6.49762e-13 1.00212e-12 1 1 0 STAB2 55576 broad.mit.edu 37 12 104089428 104089428 + Splice_Site SNP C C T TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr12:104089428C>T ENST00000388887.2 + 32 3678 c.e32+2 NM_017564.9 NP_060034.9 Q8WWQ8 STAB2_HUMAN stabilin 2 angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis cytoplasm|external side of plasma membrane|integral to plasma membrane Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2) 174 TACATCATTGCAAGTACCACA 0.512000 4 47 0 0 1 0 0 SLC22A12 116085 broad.mit.edu 37 11 64359055 64359055 + Silent SNP C C T TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr11:64359055C>T ENST00000377574.1 + 1 774 c.27C>T c.(25-27)ctC>ctT p.L9L SLC22A12_ENST00000336464.7_Silent_p.L9L|SLC22A12_ENST00000473690.1_Intron|SLC22A12_ENST00000377572.1_Silent_p.L9L|SLC22A12_ENST00000377567.2_Silent_p.L9L NM_144585.2 NP_653186.2 Q96S37 S22AC_HUMAN solute carrier family 22 (organic anion/urate transporter), member 12 9 cellular homeostasis|response to drug|urate metabolic process apical plasma membrane|brush border membrane|integral to membrane PDZ domain binding|urate transmembrane transporter activity central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 27 TCCTGGACCTCGTGGGTGGCC 0.597000 12 75 0 0 1 0 0 NFRKB 4798 broad.mit.edu 37 11 129748203 129748203 + Splice_Site SNP C C A TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr11:129748203C>A ENST00000446488.3 - 14 1615 c.e14+1 NFRKB_ENST00000524794.1_Splice_Site|NFRKB_ENST00000304521.5_Splice_Site|NFRKB_ENST00000524746.1_Splice_Site NM_001143835.1 NP_001137307.1 Q6P4R8 NFRKB_HUMAN nuclear factor related to kappaB binding protein DNA recombination|DNA repair|inflammatory response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter Ino80 complex DNA binding|protease binding breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(13)|ovary(4)|skin(3)|urinary_tract(1) 32 all_hematologic(175;0.0537) Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186) OV - Ovarian serous cystadenocarcinoma(99;0.0167)|Lung(977;0.171)|LUSC - Lung squamous cell carcinoma(976;0.184) ATTGTACTCACACCCGAGGGA 0.438000 10 59 0.0242445 0.026279 1 1 0 EPHA5 2044 broad.mit.edu 37 4 66242724 66242724 + Missense_Mutation SNP G G T TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr4:66242724G>T ENST00000273854.3 - 9 2448 c.1848C>A c.(1846-1848)agC>agA p.S616R EPHA5_ENST00000354839.4_Intron|EPHA5_ENST00000432638.2_Missense_Mutation_p.S453R|EPHA5_ENST00000511294.1_Missense_Mutation_p.S617R NM_004439.5 NP_004430.4 P54756 EPHA5_HUMAN EPH receptor A5 616 S -> I (in Ref. 1; CAA64700). cAMP-mediated signaling|neuron development dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum ATP binding|transmembrane-ephrin receptor activity autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 142 ACCATATTAGGCTTGGATGGG 0.468000 TSP Lung(17;0.13) 3 22 0.00024832 0.000293814 1 1 0 ZIC1 7545 broad.mit.edu 37 3 147128206 147128206 + Missense_Mutation SNP C C T TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr3:147128206C>T ENST00000282928.4 + 1 1036 c.307C>T c.(307-309)Cgc>Tgc p.R103C NM_003412.3 NP_003403.2 Q15915 ZIC1_HUMAN Zic family member 1 103 behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 63 CTTTCTGTTCCGCAACCGGGG 0.697000 4 28 0 0 1 0 0 IGLL5 100423062 broad.mit.edu 37 22 23237863 23237863 + Nonsense_Mutation SNP G G T TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr22:23237863G>T ENST00000532223.1 + 3 911 c.637G>T c.(637-639)Gaa>Taa p.E213* IGLL5_ENST00000526893.1_Nonsense_Mutation_p.E212*|IGLC1_ENST00000390321.2_RNA|IGLL5_ENST00000531372.1_3'UTR B9A064 IGLL5_HUMAN immunoglobulin lambda-like polypeptide 5 212 C region (By similarity to lambda light- chain). extracellular region breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|urinary_tract(1) 7 GGCCCCTACAGAATGTTCATA 0.607000 8 49 5.4927e-09 7.84672e-09 1 1 0 DSG3 1830 broad.mit.edu 37 18 29039083 29039083 + Missense_Mutation SNP C C A TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr18:29039083C>A ENST00000257189.4 + 5 543 c.460C>A c.(460-462)Cct>Act p.P154T NM_001944.2 NP_001935.2 P32926 DSG3_HUMAN desmoglein 3 154 Cadherin 1. cellular component disassembly involved in apoptosis|homophilic cell adhesion cytosol|desmosome|integral to membrane calcium ion binding breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1) 62 OV - Ovarian serous cystadenocarcinoma(10;0.00504) TAATGATAATCCTCCAGTATT 0.348000 4 25 0.150653 0.155158 1 1 0 CD209 30835 broad.mit.edu 37 19 7810766 7810766 + Missense_Mutation SNP C C T TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr19:7810766C>T ENST00000315599.7 - 4 408 c.386G>A c.(385-387)cGg>cAg p.R129Q CD209_ENST00000593660.1_Missense_Mutation_p.R105Q|CD209_ENST00000601256.1_Missense_Mutation_p.R105Q|CD209_ENST00000394173.4_Intron|CD209_ENST00000394161.5_Intron|CD209_ENST00000301357.8_Missense_Mutation_p.R85Q|CD209_ENST00000315591.8_Missense_Mutation_p.R105Q|CD209_ENST00000204801.8_Missense_Mutation_p.R85Q|CD209_ENST00000601951.1_Missense_Mutation_p.R105Q|CD209_ENST00000593821.1_Missense_Mutation_p.R85Q|CD209_ENST00000354397.6_Missense_Mutation_p.R129Q|CD209_ENST00000602261.1_Missense_Mutation_p.R129Q NM_001144895.1|NM_001144897.1|NM_021155.3 NP_001138367.1|NP_001138369.1|NP_066978.1 Q9NNX6 CD209_HUMAN CD209 molecule 129 7 X approximate tandem repeats. cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor cytoplasm|extracellular region|integral to membrane|plasma membrane mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 AGCCTTCAGCCGGGTCAGCTC 0.567000 5 141 0 0 1 0 0 GAD2 2572 broad.mit.edu 37 10 26589834 26589834 + Missense_Mutation SNP C C A TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr10:26589834C>A ENST00000376261.3 + 16 2205 c.1702C>A c.(1702-1704)Cac>Aac p.H568N GAD2_ENST00000259271.3_Missense_Mutation_p.H568N NM_001134366.1 NP_001127838.1 Q05329 DCE2_HUMAN glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa) 568 glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|Golgi membrane|presynaptic membrane glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 L-Glutamic Acid(DB00142) AGCGGCAACTCACCAAGACAT 0.448000 21 76 1.55469e-16 2.56359e-16 1 1 0 NPY2R 4887 broad.mit.edu 37 4 156135716 156135716 + Missense_Mutation SNP G G T TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr4:156135716G>T ENST00000329476.3 + 2 1114 c.625G>T c.(625-627)Ggc>Tgc p.G209C NPY2R_ENST00000506608.1_Missense_Mutation_p.G209C NM_000910.2 NP_000901.1 P49146 NPY2R_HUMAN neuropeptide Y receptor Y2 209 G -> A (in Ref. 4; AAB07760). cardiac left ventricle morphogenesis|inhibition of adenylate cyclase activity by G-protein signaling pathway|locomotory behavior|outflow tract morphogenesis integral to plasma membrane calcium channel regulator activity breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(17)|prostate(1)|skin(5)|urinary_tract(1) 36 all_hematologic(180;0.24) Renal(120;0.0854) AAAGTGGCCTGGCGAGGAGAA 0.488000 25 110 2.08457e-15 3.36571e-15 1 1 0 RGS8 85397 broad.mit.edu 37 1 182636035 182636035 + Missense_Mutation SNP G G C TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr1:182636035G>C ENST00000483095.2 - 4 357 c.100C>G c.(100-102)Ctt>Gtt p.L34V RGS8_ENST00000367557.4_Missense_Mutation_p.L34V|RGS8_ENST00000367556.1_Missense_Mutation_p.L34V|RGS8_ENST00000258302.4_Missense_Mutation_p.L52V|RGS8_ENST00000491420.2_5'UTR P57771 RGS8_HUMAN regulator of G-protein signaling 8 34 negative regulation of signal transduction cytoplasm|plasma membrane GTPase activator activity|signal transducer activity haematopoietic_and_lymphoid_tissue(1)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1) 5 TTGTCTGGAAGAATAGCTGTG 0.502000 6 105 0 0 1 0 0 NCKAP5 344148 broad.mit.edu 37 2 133539542 133539542 + Missense_Mutation SNP T T A TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr2:133539542T>A ENST00000409261.1 - 14 5215 c.4842A>T c.(4840-4842)aaA>aaT p.K1614N NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000317721.6_Missense_Mutation_p.K1614N|NCKAP5_ENST00000473859.1_5'UTR NM_207363.2 NP_997246.2 O14513 NCKP5_HUMAN NCK-associated protein 5 1614 protein binding NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 118 TGAAGGTGTCTTTCGTTGAAC 0.428000 23 59 0 0 1 0 0 DLX6 1750 broad.mit.edu 37 7 96639143 96639143 + Silent SNP T T C TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr7:96639143T>C ENST00000518156.2 + 3 1096 c.666T>C c.(664-666)ttT>ttC p.F222F DLX6-AS1_ENST00000605417.1_RNA|DLX6-AS1_ENST00000437541.1_RNA|DLX6-AS1_ENST00000430027.2_RNA|DLX6-AS1_ENST00000437331.2_RNA|DLX6_ENST00000493273.2_3'UTR|DLX6-AS1_ENST00000430404.2_RNA|DLX6_ENST00000007660.5_Silent_p.F194F|DLX6_ENST00000555308.1_Silent_p.F94F|DLX6-AS1_ENST00000458352.2_RNA|DLX6-AS1_ENST00000452769.2_RNA P56179 DLX6_HUMAN distal-less homeobox 6 104 nervous system development|skeletal system development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(2)|lung(4)|ovary(2)|urinary_tract(1) 12 all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858) GCTCTAAGTTTAAGAAACTGC 0.542000 8 43 0 0 1 0 0 ZNF382 84911 broad.mit.edu 37 19 37117917 37117917 + Missense_Mutation SNP C C A TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr19:37117917C>A ENST00000435416.1 + 3 2610 c.1115C>A c.(1114-1116)aCa>aAa p.T372K ZNF382_ENST00000423582.1_Missense_Mutation_p.T324K|ZNF382_ENST00000292928.2_Missense_Mutation_p.T373K|ZNF382_ENST00000439428.1_Missense_Mutation_p.T372K Q96SR6 ZN382_HUMAN zinc finger protein 382 373 Required for transcriptional repression activity; probably mediates sequence- specific DNA-binding (By similarity). regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(4) 34 Esophageal squamous(110;0.198) COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065) CATCACAAAACACATACGGGG 0.458000 9 61 0.000673444 0.000767528 1 1 0 PRRC2B 84726 broad.mit.edu 37 9 134308112 134308112 + Missense_Mutation SNP C C G TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr9:134308112C>G ENST00000357304.4 + 2 279 c.224C>G c.(223-225)cCc>cGc p.P75R PRRC2B_ENST00000458550.1_Missense_Mutation_p.P75R|PRRC2B_ENST00000405995.1_Missense_Mutation_p.P75R NM_013318.3 NP_037450.2 Q5JSZ5 PRC2B_HUMAN proline-rich coiled-coil 2B 75 protein binding cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2) 44 GGAAACGACCCCAACATCGTG 0.557000 4 56 0 0 1 0 0 OR5L1 219437 broad.mit.edu 37 11 55579672 55579672 + Missense_Mutation SNP C C A TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr11:55579672C>A ENST00000333973.2 + 1 819 c.730C>A c.(730-732)Cac>Aac p.H244N NM_001004738.1 NP_001004738.1 Q8NGL2 OR5L1_HUMAN olfactory receptor, family 5, subfamily L, member 1 244 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3) 78 all_epithelial(135;0.208) CTGTGCTTCCCACCTCACAGC 0.517000 11 76 0.00185496 0.00209868 1 1 0 SSMEM1 136263 broad.mit.edu 37 7 129855958 129855958 + Missense_Mutation SNP G G T TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr7:129855958G>T ENST00000297819.3 + 3 434 c.383G>T c.(382-384)cGa>cTa p.R128L NM_145268.3 NP_660311.1 serine-rich single-pass membrane protein 1 GAACAAAGACGAGCCAGGCGC 0.483000 6 31 5.18039e-06 6.66357e-06 1 1 0 NRBP1 29959 broad.mit.edu 37 2 27659970 27659970 + Nonsense_Mutation SNP G G T TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr2:27659970G>T ENST00000233557.3 + 10 1634 c.802G>T c.(802-804)Gag>Tag p.E268* NRBP1_ENST00000379863.3_Nonsense_Mutation_p.E276*|NRBP1_ENST00000379852.3_Nonsense_Mutation_p.E268* Q9UHY1 NRBP_HUMAN nuclear receptor binding protein 1 268 Protein kinase. ER to Golgi vesicle-mediated transport|gene expression|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor cell cortex|endomembrane system|lamellipodium|membrane|nucleoplasm ATP binding|protein homodimerization activity|protein kinase activity central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 19 Acute lymphoblastic leukemia(172;0.155) GTGTGCACTggaggtgagggg 0.522000 7 31 0.0477658 0.0507102 1 1 0 ARSH 347527 broad.mit.edu 37 X 2947329 2947329 + Missense_Mutation SNP G G T TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chrX:2947329G>T ENST00000381130.2 + 8 1241 c.1241G>T c.(1240-1242)aGg>aTg p.R414M NM_001011719.1 NP_001011719.1 Q5FYA8 ARSH_HUMAN arylsulfatase family, member H 414 integral to membrane arylsulfatase activity|metal ion binding breast(3)|endometrium(8)|kidney(2)|large_intestine(6)|lung(13)|skin(1)|stomach(1) 34 all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186) CTGGAAGGAAGGGCGTCCCAC 0.547000 15 96 1.02788e-11 1.54682e-11 1 1 0 ZNF19 7567 broad.mit.edu 37 16 71509851 71509851 + Missense_Mutation SNP C C A TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr16:71509851C>A ENST00000288177.5 - 6 854 c.599G>T c.(598-600)gGt>gTt p.G200V ZNF19_ENST00000565100.2_Missense_Mutation_p.G130V|ZNF19_ENST00000565637.1_Missense_Mutation_p.G158V|ZNF19_ENST00000564230.1_Missense_Mutation_p.G200V|ZNF19_ENST00000567225.1_Intron|AC010547.9_ENST00000561908.1_Intron NM_006961.3 NP_008892.2 P17023 ZNF19_HUMAN zinc finger protein 19 200 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|prostate(1)|stomach(1) 22 Ovarian(137;0.00965) BRCA - Breast invasive adenocarcinoma(221;0.0161)|Kidney(780;0.0598) CGAAGAATTACCATTAAAGGC 0.443000 5 30 1.6384e-10 2.40713e-10 1 1 0 GLDC 2731 broad.mit.edu 37 9 6587243 6587243 + Missense_Mutation SNP A A C TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr9:6587243A>C ENST00000321612.6 - 15 1898 c.1748T>G c.(1747-1749)gTg>gGg p.V583G NM_000170.2 NP_000161.2 P23378 GCSP_HUMAN glycine dehydrogenase (decarboxylating) 583 glycine catabolic process mitochondrion electron carrier activity|glycine dehydrogenase (decarboxylating) activity|lyase activity|pyridoxal phosphate binding cervix(1)|endometrium(2)|large_intestine(5)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 37 Acute lymphoblastic leukemia(23;0.161) GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134) Glycine(DB00145)|Pyridoxal Phosphate(DB00114) ATCCAGAGGCACAAAGGGGTG 0.383000 11 53 0 0 1 0 0 TMPRSS15 5651 broad.mit.edu 37 21 19698813 19698813 + Missense_Mutation SNP G G T TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr21:19698813G>T ENST00000284885.3 - 16 1890 c.1857C>A c.(1855-1857)aaC>aaA p.N619K NM_002772.2 NP_002763.2 P98073 ENTK_HUMAN transmembrane protease, serine 15 619 CUB 2. proteolysis brush border|integral to membrane scavenger receptor activity|serine-type endopeptidase activity NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 85 CCAACACATCGTTAGTGATGA 0.448000 31 81 1.22384e-17 2.05075e-17 1 1 0 KRTAP5-4 387267 broad.mit.edu 37 11 1643028 1643028 + Missense_Mutation SNP C C A TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr11:1643028C>A ENST00000399682.1 - 1 340 c.296G>T c.(295-297)gGg>gTg p.G99V NM_001012709.1 NP_001012727.1 Q6L8H1 KRA54_HUMAN keratin associated protein 5-4 99 9 X 4 AA repeats of C-C-X-P. keratin filament NS(1)|endometrium(9)|kidney(2)|lung(2)|pancreas(1)|prostate(3)|skin(2) 20 all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082) GCCACAGCCCCCCTTGGAACC 0.682000 10 79 2.48551e-13 3.9112e-13 1 1 0 PRB2 653247 broad.mit.edu 37 12 11546771 11546771 + Missense_Mutation SNP G G C TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr12:11546771G>C ENST00000389362.4 - 3 276 c.241C>G c.(241-243)Cca>Gca p.P81A PRB1_ENST00000546254.1_Intron NM_006248.3 NP_006239.3 proline-rich protein BstNI subfamily 2 p.P81A(1)|p.P60A(1) NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1) 37 all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09) OV - Ovarian serous cystadenocarcinoma(49;0.185) TGTGGGGGTGGTCCTTGTGGC 0.612000 7 373 0 0 1 0 0 BEST3 144453 broad.mit.edu 37 12 70065291 70065291 + Silent SNP G G A rs113525790 by1000genomes TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr12:70065291G>A ENST00000330891.5 - 9 1243 c.1017C>T c.(1015-1017)gaC>gaT p.D339D BEST3_ENST00000331471.4_Silent_p.D339D|BEST3_ENST00000553096.1_Silent_p.D233D|BEST3_ENST00000476098.1_Silent_p.D126D|BEST3_ENST00000488961.1_Silent_p.D126D NM_032735.2 NP_116124.2 Q8N1M1 BEST3_HUMAN bestrophin 3 339 chloride channel complex|plasma membrane chloride channel activity cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2) 12 Breast(13;2.31e-06)|Esophageal squamous(21;0.187) Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694) CAGCAGAATCGTCCCAGTAAA 0.433000 5 49 0 0 1 0 0 MYOM3 127294 broad.mit.edu 37 1 24407901 24407901 + Missense_Mutation SNP C C A TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr1:24407901C>A ENST00000330966.7 - 19 2491 c.2329G>T c.(2329-2331)Gct>Tct p.A777S RP11-293P20.2_ENST00000439239.2_RNA|MYOM3_ENST00000329601.7_Missense_Mutation_p.A776S|MYOM3_ENST00000374434.3_Missense_Mutation_p.A776S|RP11-293P20.4_ENST00000429191.1_RNA Q5VTT5 MYOM3_HUMAN myomesin 3 776 Fibronectin type-III 4. NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2) 68 Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153) CAGTTGGCAGCCCGGGCACGG 0.582000 3 35 0.115264 0.119906 1 1 0 ATXN3L 92552 broad.mit.edu 37 X 13337344 13337344 + Missense_Mutation SNP C C A TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chrX:13337344C>A ENST00000380622.2 - 1 1174 c.710G>T c.(709-711)cGc>cTc p.R237L GS1-600G8.3_ENST00000431486.1_RNA NM_001135995.1 NP_001129467.1 Q9H3M9 ATX3L_HUMAN ataxin 3-like 237 protein deubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ubiquitin-specific protease activity p.R237H(1) endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1) 28 GGTTTCTTGGCGGCTTAGTTC 0.423000 37 208 1.59361e-14 2.54649e-14 1 1 0 KIAA1549L 25758 broad.mit.edu 37 11 33566850 33566850 + Missense_Mutation SNP C C T TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr11:33566850C>T ENST00000321505.4 + 2 2600 c.2420C>T c.(2419-2421)gCt>gTt p.A807V KIAA1549L_ENST00000265654.5_Missense_Mutation_p.A813V|KIAA1549L_ENST00000389726.3_Missense_Mutation_p.A813V KIAA1549-like GCTGCATCGGCTGCAGTGGTC 0.547000 3 27 0 0 1 0 0 MTMR10 54893 broad.mit.edu 37 15 31233850 31233850 + Silent SNP G G A TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr15:31233850G>A ENST00000435680.1 - 16 2254 c.2157C>T c.(2155-2157)aaC>aaT p.N719N MTMR10_ENST00000314404.8_Intron|FAN1_ENST00000362065.4_3'UTR|MTMR10_ENST00000425768.1_3'UTR NM_017762.2 NP_060232.2 Q9NXD2 MTMRA_HUMAN myotubularin related protein 10 719 phosphatase activity autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1) 9 all_lung(180;2.81e-11) all cancers(64;7.26e-15)|Epithelial(43;7.2e-11)|GBM - Glioblastoma multiforme(186;0.000158)|BRCA - Breast invasive adenocarcinoma(123;0.00426)|Lung(196;0.174) GGCCGCTGGCGTTGAAGTACA 0.587000 3 6 0 0 1 0 0 BMP2K 55589 broad.mit.edu 37 4 79792085 79792085 + Missense_Mutation SNP G G C rs71828885 TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr4:79792085G>C ENST00000335016.5 + 11 1546 c.1380G>C c.(1378-1380)caG>caC p.Q460H BMP2K_ENST00000502871.1_Missense_Mutation_p.Q460H NM_198892.1 NP_942595.1 Q9NSY1 BMP2K_HUMAN BMP2 inducible kinase 460 Gln/His-rich. nucleus ATP binding|protein serine/threonine kinase activity p.Q460H(3) NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1) 13 ATCCTCACcagcagcagcagc 0.577000 3 45 0 0 1 0 0 PIGS 94005 broad.mit.edu 37 17 26888618 26888618 + Silent SNP C C T TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr17:26888618C>T ENST00000308360.7 - 6 873 c.498G>A c.(496-498)agG>agA p.R166R PIGS_ENST00000543734.1_Silent_p.R105R|PIGS_ENST00000395346.2_Silent_p.R158R|PIGS_ENST00000465444.1_5'UTR NM_033198.3 NP_149975.1 Q96S52 PIGS_HUMAN phosphatidylinositol glycan anchor biosynthesis, class S 166 attachment of GPI anchor to protein|C-terminal protein lipidation GPI-anchor transamidase complex protein binding breast(3)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 Lung NSC(42;0.00431) CCACTGCTGTCCTCTTGGGCC 0.562000 3 22 0 0 1 0 0 ARHGEF17 9828 broad.mit.edu 37 11 73078683 73078683 + Missense_Mutation SNP C C T TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr11:73078683C>T ENST00000263674.3 + 21 6400 c.6050C>T c.(6049-6051)cCc>cTc p.P2017L NM_014786.3 NP_055601.2 Q96PE2 ARHGH_HUMAN Rho guanine nucleotide exchange factor (GEF) 17 2017 actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol Rho guanyl-nucleotide exchange factor activity endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2) 32 CACCGAGGCCCCGCCCCTGCC 0.647000 15 72 0 0 1 0 0 ITIH6 347365 broad.mit.edu 37 X 54814955 54814955 + Silent SNP A A G TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chrX:54814955A>G ENST00000218436.6 - 5 773 c.744T>C c.(742-744)gtT>gtC p.V248V ITIH6_ENST00000498398.1_5'UTR NM_198510.2 NP_940912.1 Q6UXX5 ITH5L_HUMAN inter-alpha-trypsin inhibitor heavy chain family, member 6 248 hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity CATCGTACTGAACCAGGAAGT 0.582000 9 50 0 0 1 0 0 BGN 633 broad.mit.edu 37 X 152772061 152772061 + Missense_Mutation SNP C C T TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chrX:152772061C>T ENST00000331595.4 + 5 826 c.640C>T c.(640-642)Cgc>Tgc p.R214C BGN_ENST00000370204.1_Missense_Mutation_p.R153C|BGN_ENST00000480756.1_3'UTR NM_001711.4 NP_001702.1 P21810 PGS1_HUMAN biglycan 214 proteinaceous extracellular matrix|transport vesicle extracellular matrix structural constituent breast(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1) 16 all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) CAACTACCTGCGCATCTCAGA 0.602000 7 62 0 0 1 0 0 FRMPD1 22844 broad.mit.edu 37 9 37735585 37735585 + Missense_Mutation SNP G G A TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr9:37735585G>A ENST00000539465.1 + 13 1848 c.1255G>A c.(1255-1257)Gga>Aga p.G419R FRMPD1_ENST00000536622.1_Missense_Mutation_p.G241R|RP11-613M10.9_ENST00000540557.1_Intron|FRMPD1_ENST00000541302.1_Missense_Mutation_p.G288R|FRMPD1_ENST00000377765.3_Missense_Mutation_p.G419R Q5SYB0 FRPD1_HUMAN FERM and PDZ domain containing 1 419 FERM. cytoskeleton|cytosol|plasma membrane NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 93 GBM - Glioblastoma multiforme(29;0.00655) CCTTCTAGTTGGAGCCAAGTA 0.443000 13 64 0 0 1 0 0 KRAS 3845 broad.mit.edu 37 12 25398284 25398284 + Missense_Mutation SNP C C A rs121913529 TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr12:25398284C>A ENST00000311936.3 - 2 226 c.35G>T c.(34-36)gGt>gTt p.G12V KRAS_ENST00000556131.1_Missense_Mutation_p.G12V|KRAS_ENST00000256078.4_Missense_Mutation_p.G12V|KRAS_ENST00000557334.1_Missense_Mutation_p.G12V NM_004985.3 NP_004976.2 P01116 RASK_HUMAN Kirsten rat sarcoma viral oncogene homolog 12 G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation). activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction plasma membrane GTP binding|GTPase activity|protein binding p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1) UBE2L3/KRAS(2) NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57) 25349 all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12) OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05) GCCTACGCCACCAGCTCCAAC 0.348000 G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS) 119 Mis """pancreatic, colorectal, lung, thyroid, AML, others""" Noonan syndrome;Cardiofaciocutaneous syndrome TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6) 9 16 4.3838e-07 5.78289e-07 1 1 0 PRSS3P2 154754 broad.mit.edu 37 7 142480037 142480037 + RNA SNP T T A TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr7:142480037T>A ENST00000603901.1 + 0 169 NR_001296.3 CAGCGAACAGTGGGTGGTGTC 0.587000 17 78 0 0 1 0 0 HOXD13 3239 broad.mit.edu 37 2 176957919 176957919 + Missense_Mutation SNP G G C TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr2:176957919G>C ENST00000392539.3 + 1 301 c.301G>C c.(301-303)Gct>Cct p.A101P NM_000523.3 NP_000514.2 P35453 HXD13_HUMAN homeobox D13 101 skeletal system development|transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3) 6 OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18) Colorectal(32;0.0526)|READ - Rectum adenocarcinoma(9;0.0678) GCGCCCGGAGGCTCCCCCAGC 0.726000 T NUP98 AML* 9 17 0 0 1 0 0 TKTL1 8277 broad.mit.edu 37 X 153551630 153551630 + Missense_Mutation SNP C C A TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chrX:153551630C>A ENST00000369915.3 + 9 1453 c.1264C>A c.(1264-1266)Cca>Aca p.P422T TKTL1_ENST00000217905.7_Missense_Mutation_p.P162T|TKTL1_ENST00000369912.2_Missense_Mutation_p.P366T NM_001145933.1|NM_012253.3 NP_001139405.1|NP_036385.3 P51854 TKTL1_HUMAN transketolase-like 1 422 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) GATCTTCTACCCAACTGATGC 0.517000 21 81 3.28513e-13 5.11753e-13 1 1 0 RP11-146E13.4 0 broad.mit.edu 37 14 19856989 19856989 + RNA SNP C C A TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr14:19856989C>A ENST00000548109.1 + 0 72 TCACAGTGCTCTAAAAGCTCT 0.398000 5 37 2.7689e-08 3.79804e-08 1 1 0 PLXNA4 91584 broad.mit.edu 37 7 131887528 131887528 + Silent SNP G G A TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr7:131887528G>A ENST00000359827.3 - 12 3425 c.2463C>T c.(2461-2463)ttC>ttT p.F821F PLXNA4_ENST00000321063.4_Silent_p.F821F Q9HCM2 PLXA4_HUMAN plexin A4 821 PSI 3. integral to membrane|intracellular|plasma membrane NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1) 45 AGCCACATGCGAAGTCTGGGT 0.637000 6 17 0 0 1 0 0 CALCA 796 broad.mit.edu 37 11 14992652 14992652 + Splice_Site SNP C C G TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr11:14992652C>G ENST00000361010.3 - 2 161 c.e2+1 CALCB_ENST00000523376.1_Intron|CALCA_ENST00000331587.4_Splice_Site|CALCA_ENST00000486207.1_Splice_Site|CALCA_ENST00000359642.3_Splice_Site|CALCA_ENST00000396372.2_Splice_Site NM_001033953.2 NP_001029125.1 P06881 CALCA_HUMAN calcitonin-related polypeptide alpha activation of adenylate cyclase activity|cell-cell signaling|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|endothelial cell migration|endothelial cell proliferation|leukocyte cell-cell adhesion|negative regulation of blood pressure|negative regulation of bone resorption|negative regulation of calcium ion transport into cytosol|negative regulation of osteoclast differentiation|neurological system process involved in regulation of systemic arterial blood pressure|positive regulation of interleukin-1 alpha production|positive regulation of interleukin-8 production|positive regulation of macrophage differentiation|positive regulation of vasodilation|regulation of blood pressure|vasculature development|vasodilation cytosol|extracellular space hormone activity central_nervous_system(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1) 8 Phentolamine(DB00692) GGCTGTCTTACCTGAATGGTG 0.532000 7 58 0 0 1 0 0 DHX35 60625 broad.mit.edu 37 20 37597733 37597733 + Missense_Mutation SNP G G A TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr20:37597733G>A ENST00000252011.3 + 2 83 c.50G>A c.(49-51)gGg>gAg p.G17E DHX35_ENST00000373323.4_Missense_Mutation_p.G17E|DHX35_ENST00000373325.2_Missense_Mutation_p.G17E NM_021931.3 NP_068750.2 Q9H5Z1 DHX35_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 35 17 catalytic step 2 spliceosome ATP binding|ATP-dependent helicase activity|nucleic acid binding breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2) 40 Myeloproliferative disorder(115;0.00878) GGTACAGAGGGGCCAGGTGTA 0.403000 4 25 0 0 1 0 0 ITGA4 3676 broad.mit.edu 37 2 182363400 182363400 + Missense_Mutation SNP C C A TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr2:182363400C>A ENST00000397033.2 + 15 2021 c.1591C>A c.(1591-1593)Cca>Aca p.P531T NM_000885.4 NP_000876.3 P13612 ITA4_HUMAN integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor) 531 blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response integrin complex identical protein binding|receptor activity breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 58 OV - Ovarian serous cystadenocarcinoma(117;0.0593) Natalizumab(DB00108) AGAGTCTCCACCAAGATTCTA 0.348000 12 39 0.0242445 0.026279 1 1 0 NTRK3 4916 broad.mit.edu 37 15 88678344 88678344 + Missense_Mutation SNP C C G TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr15:88678344C>G ENST00000394480.1 - 10 1513 c.1192G>C c.(1192-1194)Gag>Cag p.E398Q NTRK3_ENST00000357724.2_Missense_Mutation_p.E398Q|NTRK3_ENST00000317501.3_Missense_Mutation_p.E398Q|NTRK3_ENST00000558676.1_Missense_Mutation_p.E398Q|NTRK3_ENST00000540489.2_Missense_Mutation_p.E398Q|NTRK3_ENST00000557856.1_Missense_Mutation_p.E398Q|NTRK3_ENST00000542733.2_Missense_Mutation_p.E300Q|NTRK3_ENST00000355254.2_Missense_Mutation_p.E398Q|NTRK3_ENST00000360948.2_Missense_Mutation_p.E398Q NM_001243101.1|NM_002530.3 NP_001230030.1|NP_002521.2 Q16288 NTRK3_HUMAN neurotrophic tyrosine kinase, receptor, type 3 398 transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity ETV6/NTRK3(238) breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2) 119 BRCA - Breast invasive adenocarcinoma(143;0.211) GGAAAGGGCTCCTTGAGGAAG 0.532000 T ETV6 """congenital fibrosarcoma, Secretory breast """ TSP Lung(13;0.10) 15 78 0 0 1 0 0 TCP11L2 255394 broad.mit.edu 37 12 106729479 106729479 + Missense_Mutation SNP T T G TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr12:106729479T>G ENST00000299045.3 + 7 1009 c.835T>G c.(835-837)Tct>Gct p.S279A NM_152772.1 NP_689985.1 Q8N4U5 T11L2_HUMAN t-complex 11, testis-specific-like 2 279 endometrium(2)|kidney(2)|large_intestine(5)|ovary(3)|prostate(1)|urinary_tract(2) 15 ATTTTCTCTTTCTGAGAGTGC 0.398000 4 35 0 0 1 0 0 CARD11 84433 broad.mit.edu 37 7 2985479 2985479 + Missense_Mutation SNP G G T TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr7:2985479G>T ENST00000396946.4 - 4 735 c.332C>A c.(331-333)cCc>cAc p.P111H AC004906.3_ENST00000423194.1_RNA NM_032415.4 NP_115791.3 Q9BXL7 CAR11_HUMAN caspase recruitment domain family, member 11 111 positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway cytosol|membrane raft|plasma membrane CARD domain binding|guanylate kinase activity NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2) 150 Ovarian(82;0.0115) OV - Ovarian serous cystadenocarcinoma(56;8.44e-14) TCTCCGAGTGGGCTCTTTCCC 0.493000 Mis DLBCL 27 169 3.1745e-13 4.97017e-13 1 1 0 CYP8B1 1582 broad.mit.edu 37 3 42917206 42917206 + Missense_Mutation SNP G G T TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr3:42917206G>T ENST00000316161.4 - 1 427 c.103C>A c.(103-105)Ctg>Atg p.L35M KRBOX1_ENST00000426937.1_Intron|CYP8B1_ENST00000437102.1_Missense_Mutation_p.L35M|ACKR2_ENST00000471537.1_Intron NM_004391.2 NP_004382.2 Q9UNU6 CP8B1_HUMAN cytochrome P450, family 8, subfamily B, polypeptide 1 35 bile acid biosynthetic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome 7alpha-hydroxycholest-4-en-3-one 12alpha-hydroxylase activity|electron carrier activity|heme binding|oxygen binding|sterol 12-alpha-hydroxylase activity NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|prostate(2)|skin(5) 23 KIRC - Kidney renal clear cell carcinoma(284;0.213)|Kidney(284;0.249) CCCTTGTCCAGAGGGGGCTCC 0.582000 8 38 1.12685e-05 1.43165e-05 1 1 0 CHRNA1 1134 broad.mit.edu 37 2 175614782 175614782 + Missense_Mutation SNP C C G TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr2:175614782C>G ENST00000348749.5 - 7 971 c.894G>C c.(892-894)atG>atC p.M298I CHRNA1_ENST00000409542.1_Missense_Mutation_p.M216I|AC018890.6_ENST00000442996.1_RNA|CHRNA1_ENST00000261007.5_Missense_Mutation_p.M323I|CHRNA1_ENST00000409219.1_Missense_Mutation_p.M298I NM_000079.3 NP_000070.1 P02708 ACHA_HUMAN cholinergic receptor, nicotinic, alpha 1 (muscle) 323 muscle cell homeostasis|neuromuscular junction development|neuromuscular process|neuromuscular synaptic transmission|neuron homeostasis|regulation of action potential in neuron|skeletal muscle contraction|skeletal muscle tissue growth cell junction|cell surface|neuromuscular junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(3)|prostate(3)|skin(4) 37 TGGTGAACAGCATGTATTTTC 0.517000 14 94 0 0 1 0 0 PDCD11 22984 broad.mit.edu 37 10 105205183 105205183 + Missense_Mutation SNP G G T TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr10:105205183G>T ENST00000369797.3 + 36 5587 c.5493G>T c.(5491-5493)atG>atT p.M1831I NM_014976.1 NP_055791.1 Q14690 RRP5_HUMAN programmed cell death 11 1831 mRNA processing|rRNA processing nucleolus RNA binding|transcription factor binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 64 Colorectal(252;0.0747)|Breast(234;0.128) Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208) CCAAGAGAATGAAGTTCTTCT 0.542000 15 78 2.35188e-11 3.52214e-11 1 1 0 PRDM7 11105 broad.mit.edu 37 16 90126912 90126912 + Missense_Mutation SNP G G T TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr16:90126912G>T ENST00000449207.2 - 9 1089 c.1070C>A c.(1069-1071)tCt>tAt p.S357Y PRDM7_ENST00000407825.1_Intron|PRDM7_ENST00000325921.6_Intron NM_001098173.1 NP_001091643.1 Q9NQW5 PRDM7_HUMAN PR domain containing 7 357 SET. S -> Y (in Ref. 2; AAF78084). chromosome|nucleus nucleic acid binding lung(2)|ovary(2)|stomach(1) 5 all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194) BRCA - Breast invasive adenocarcinoma(80;0.0278) CTCATCCCCAGACCAGACCAG 0.532000 5 69 0.000602214 0.000694002 1 1 0 C1orf109 54955 broad.mit.edu 37 1 38155304 38155304 + Silent SNP G G T TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr1:38155304G>T ENST00000358011.4 - 2 438 c.249C>A c.(247-249)atC>atA p.I83I C1orf109_ENST00000494120.1_Intron NM_017850.1 NP_060320.1 Q9NX04 CA109_HUMAN chromosome 1 open reading frame 109 83 lung(2)|prostate(2) 4 Myeloproliferative disorder(586;0.0393) TGTCCAGGACGATGTCACCAG 0.532000 4 79 0.00116845 0.00132681 1 1 0 FBXL4 26235 broad.mit.edu 37 6 99374724 99374724 + Silent SNP G G A TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr6:99374724G>A ENST00000369244.2 - 4 569 c.141C>T c.(139-141)ctC>ctT p.L47L FBXL4_ENST00000229971.1_Silent_p.L47L Q9UKA2 FBXL4_HUMAN F-box and leucine-rich repeat protein 4 47 ubiquitin-dependent protein catabolic process cytoplasm|nucleus|ubiquitin ligase complex central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(4)|prostate(3)|skin(2) 18 all_cancers(76;1.56e-06)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00893)|Colorectal(196;0.069)|Lung NSC(302;0.197) BRCA - Breast invasive adenocarcinoma(108;0.0413) CCTCTGCATTGAGAGGGGAAG 0.438000 27 99 0 0 1 0 0 ATRX 546 broad.mit.edu 37 X 76938069 76938069 + Silent SNP G G C TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chrX:76938069G>C ENST00000373344.5 - 9 2893 c.2679C>G c.(2677-2679)ggC>ggG p.G893G ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Silent_p.G855G NM_000489.3 NP_000480.2 P46100 ATRX_HUMAN alpha thalassemia/mental retardation syndrome X-linked 893 DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent nuclear heterochromatin ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding p.?(1) bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 145 Phosphatidylserine(DB00144) TATCAACTGTGCCTTCTGCTG 0.423000 """Mis, F, N""" """Pancreatic neuroendocrine tumors, paediatric GBM""" ATR-X (alpha thalassemia/mental retardation) syndrome 38 173 0 0 1 0 0 KIF1A 547 broad.mit.edu 37 2 241685265 241685265 + Silent SNP C C A TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr2:241685265C>A ENST00000498729.2 - 31 3510 c.3264G>T c.(3262-3264)ctG>ctT p.L1088L KIF1A_ENST00000320389.7_Silent_p.L987L NM_001244008.1 NP_001230937.1 Q12756 KIF1A_HUMAN kinesin family member 1A 987 anterograde axon cargo transport cytoplasm|microtubule|nucleus ATP binding|microtubule motor activity NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1) 66 all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176) GGGCAGCATCCAGGGGCCCAT 0.622000 5 11 1.6384e-10 2.40713e-10 1 1 0 ATP2B2 491 broad.mit.edu 37 3 10381930 10381930 + Missense_Mutation SNP C C A TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr3:10381930C>A ENST00000397077.1 - 20 3673 c.3098G>T c.(3097-3099)gGc>gTc p.G1033V ATP2B2_ENST00000383800.4_Missense_Mutation_p.G1033V|ATP2B2_ENST00000360273.2_Missense_Mutation_p.G1078V|ATP2B2_ENST00000352432.4_Missense_Mutation_p.G1078V|ATP2B2_ENST00000343816.4_Missense_Mutation_p.G1064V Q01814 AT2B2_HUMAN ATPase, Ca++ transporting, plasma membrane 2 1078 ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation cytosol|integral to membrane|plasma membrane ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2) 74 ACTTACCTGGCCCCAAACGAG 0.572000 6 42 1.76689e-08 2.43439e-08 1 1 0 ALG1L 200810 broad.mit.edu 37 3 125652457 125652457 + Missense_Mutation SNP C C T TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr3:125652457C>T ENST00000340333.3 - 2 224 c.61G>A c.(61-63)Gag>Aag p.E21K NM_001015050.2|NM_001195223.1 NP_001015050.2|NP_001182152.1 Q6GMV1 ALG1L_HUMAN ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase-like 21 transferase activity, transferring glycosyl groups large_intestine(2)|lung(2) 4 GCTGGCCACTCGCGGAGATGC 0.622000 4 25 0 0 1 0 0 BRWD3 254065 broad.mit.edu 37 X 79951433 79951433 + Missense_Mutation SNP T T A TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chrX:79951433T>A ENST00000373275.4 - 27 3341 c.3125A>T c.(3124-3126)gAa>gTa p.E1042V BRWD3_ENST00000473691.1_5'UTR NM_153252.4 NP_694984.4 Q6RI45 BRWD3_HUMAN bromodomain and WD repeat domain containing 3 1042 breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3) 87 TTCTTTGGCTTCATTATAAAA 0.303000 8 27 0 0 1 0 0 RHOBTB2 23221 broad.mit.edu 37 8 22865579 22865579 + Missense_Mutation SNP G G A TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr8:22865579G>A ENST00000251822.6 + 6 2112 c.1575G>A c.(1573-1575)atG>atA p.M525I RHOBTB2_ENST00000522948.1_Missense_Mutation_p.M532I|RP11-875O11.1_ENST00000502083.2_RNA|RHOBTB2_ENST00000519685.1_Missense_Mutation_p.M547I NM_015178.2 NP_055993.2 Q9BYZ6 RHBT2_HUMAN Rho-related BTB domain containing 2 525 BTB 2. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|plasma membrane GTP binding breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1) 31 Prostate(55;0.0513)|Breast(100;0.214) Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064) GTGACTGGATGGCTGCCATGT 0.557000 8 53 0 0 1 0 0 SGMS1 259230 broad.mit.edu 37 10 52103589 52103589 + Missense_Mutation SNP C C A TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr10:52103589C>A ENST00000361781.2 - 7 1245 c.286G>T c.(286-288)Ggc>Tgc p.G96C SGMS1_ENST00000429490.1_Intron|SGMS1_ENST00000361543.2_Missense_Mutation_p.G96C NM_147156.3 NP_671512.1 Q86VZ5 SMS1_HUMAN sphingomyelin synthase 1 102 apoptosis|cell growth|sphingomyelin biosynthetic process endoplasmic reticulum|Golgi trans cisterna|integral to Golgi membrane|nucleus|plasma membrane ceramide cholinephosphotransferase activity|kinase activity|sphingomyelin synthase activity endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 16 CTGAAGCTGCCGTCGGGGGTG 0.512000 8 56 0.00448238 0.00498042 1 1 0 CD69 969 broad.mit.edu 37 12 9907713 9907713 + Missense_Mutation SNP T T A TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr12:9907713T>A ENST00000228434.3 - 3 412 c.332A>T c.(331-333)aAt>aTt p.N111I CD69_ENST00000536709.1_Missense_Mutation_p.N111I NM_001781.2 NP_001772.1 Q07108 CD69_HUMAN CD69 molecule 111 C-type lectin. integral to plasma membrane sugar binding|transmembrane receptor activity endometrium(1)|large_intestine(3)|lung(4)|pancreas(1)|upper_aerodigestive_tract(1) 10 AGAACAAGCATTTTGGGCTGA 0.383000 30 53 0 0 1 0 0 SPOCK1 6695 broad.mit.edu 37 5 136324183 136324183 + Missense_Mutation SNP T T A TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr5:136324183T>A ENST00000394945.1 - 8 1025 c.856A>T c.(856-858)Aac>Tac p.N286Y SPOCK1_ENST00000282223.7_Missense_Mutation_p.N286Y|SPOCK1_ENST00000509978.1_5'UTR NM_004598.3 NP_004589.1 Q08629 TICN1_HUMAN sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 1 286 cell adhesion|cell proliferation|cellular component movement|nervous system development|signal transduction proteinaceous extracellular matrix calcium ion binding breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(4)|ovary(1)|pancreas(1)|stomach(1) 18 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) TCACACGAGTTGAAAAGAGGC 0.498000 6 92 0 0 1 0 0 SLIT3 6586 broad.mit.edu 37 5 168233578 168233578 + Missense_Mutation SNP G G T TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr5:168233578G>T ENST00000519560.1 - 9 1227 c.808C>A c.(808-810)Ccc>Acc p.P270T SLIT3_ENST00000404867.3_Missense_Mutation_p.P270T|SLIT3_ENST00000332966.8_Missense_Mutation_p.P270T NM_001271946.1|NM_003062.2 NP_001258875.1|NP_003053.1 O75094 SLIT3_HUMAN slit homolog 3 (Drosophila) 270 apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway extracellular space|mitochondrion calcium ion binding|Roundabout binding endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) CAGGATGGGGGCTCCGAGTGG 0.572000 6 75 0.000157383 0.00018693 1 1 0 WIF1 11197 broad.mit.edu 37 12 65445163 65445163 + Missense_Mutation SNP C C G rs138241385 TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr12:65445163C>G ENST00000286574.4 - 10 1480 c.1106G>C c.(1105-1107)cGg>cCg p.R369P NM_007191.4 NP_009122.2 Q9Y5W5 WIF1_HUMAN WNT inhibitory factor 1 369 multicellular organismal development|Wnt receptor signaling pathway extracellular region protein tyrosine kinase activity cervix(1)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1) 21 LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975) GBM - Glioblastoma multiforme(28;0.0231) TGGATCCCGCCGCTCCTCGGC 0.498000 T HMGA2 pleomorphic salivary gland adenoma 12 34 0 0 1 0 0 FOCAD 54914 broad.mit.edu 37 9 20929593 20929593 + Silent SNP C C G TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr9:20929593C>G ENST00000380249.1 + 29 3679 c.3315C>G c.(3313-3315)ctC>ctG p.L1105L FOCAD_ENST00000338382.6_Silent_p.L1105L|FOCAD_ENST00000605086.1_Silent_p.L541L NM_017794.3 NP_060264.3 Q5VW36 K1797_HUMAN focadhesin 1105 integral to membrane binding AAGAGAAACTCAGGTACAGTT 0.403000 5 51 0 0 1 0 0 TMEM31 203562 broad.mit.edu 37 X 102968776 102968776 + Silent SNP C C A TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chrX:102968776C>A ENST00000319560.6 + 3 548 c.357C>A c.(355-357)atC>atA p.I119I GLRA4_ENST00000372617.4_Intron NM_182541.2 NP_872347.2 Q5JXX7 TMM31_HUMAN transmembrane protein 31 119 integral to membrane breast(1)|endometrium(2)|kidney(1)|large_intestine(3) 7 TGGAAAAGATCGGACTGCCCA 0.418000 14 80 4.63292e-17 7.68025e-17 1 1 0 OR6N2 81442 broad.mit.edu 37 1 158747012 158747012 + Silent SNP G G A TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr1:158747012G>A ENST00000339258.1 - 1 413 c.414C>T c.(412-414)acC>acT p.T138T NM_001005278.1 NP_001005278.1 Q8NGY6 OR6N2_HUMAN olfactory receptor, family 6, subfamily N, member 2 138 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|large_intestine(6)|lung(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 all_hematologic(112;0.0378) CACAGAGTGTGGTGGTCATAA 0.512000 21 44 0 0 1 0 0 BRWD3 254065 broad.mit.edu 37 X 79951432 79951432 + Missense_Mutation SNP T T A TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chrX:79951432T>A ENST00000373275.4 - 27 3342 c.3126A>T c.(3124-3126)gaA>gaT p.E1042D BRWD3_ENST00000473691.1_5'UTR NM_153252.4 NP_694984.4 Q6RI45 BRWD3_HUMAN bromodomain and WD repeat domain containing 3 1042 breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3) 87 TTTCTTTGGCTTCATTATAAA 0.303000 8 26 0 0 1 0 0 PLSCR4 57088 broad.mit.edu 37 3 145938688 145938688 + Missense_Mutation SNP T T A TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr3:145938688T>A ENST00000354952.2 - 3 272 c.32A>T c.(31-33)cAg>cTg p.Q11L PLSCR4_ENST00000383083.2_Missense_Mutation_p.Q11L|PLSCR4_ENST00000433593.2_5'UTR|PLSCR4_ENST00000493382.1_Missense_Mutation_p.Q11L|PLSCR4_ENST00000446574.2_Missense_Mutation_p.Q11L NM_020353.2 NP_065086.2 Q9NRQ2 PLS4_HUMAN phospholipid scramblase 4 11 blood coagulation|phospholipid scrambling integral to membrane calcium ion binding|phospholipid scramblase activity|SH3 domain binding kidney(1)|large_intestine(6)|lung(9)|urinary_tract(1) 17 ACCTGCAGGCTGTTCAGGGGC 0.403000 6 20 0 0 1 0 0 RXFP2 122042 broad.mit.edu 37 13 32356828 32356828 + Missense_Mutation SNP T T G TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr13:32356828T>G ENST00000298386.2 + 11 944 c.873T>G c.(871-873)aaT>aaG p.N291K RXFP2_ENST00000380314.1_Intron NM_130806.3 NP_570718.1 Q8WXD0 RXFP2_HUMAN relaxin/insulin-like family peptide receptor 2 291 integral to membrane|plasma membrane cervix(1)|endometrium(2)|large_intestine(15)|lung(13)|prostate(1)|stomach(1) 33 Lung SC(185;0.0262) all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535) TGCCTAGAAATCAAATTGGTT 0.408000 6 39 0 0 1 0 0 ZMYM3 9203 broad.mit.edu 37 X 70470504 70470504 + Missense_Mutation SNP G G T TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chrX:70470504G>T ENST00000373998.1 - 5 1548 c.851C>A c.(850-852)cCc>cAc p.P284H ZMYM3_ENST00000373982.1_Missense_Mutation_p.P286H|ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000373981.1_Missense_Mutation_p.P284H|ZMYM3_ENST00000373984.3_Missense_Mutation_p.P286H|ZMYM3_ENST00000373978.1_Intron|ZMYM3_ENST00000353904.2_Missense_Mutation_p.P284H|ZMYM3_ENST00000373988.1_Missense_Mutation_p.P286H|ZMYM3_ENST00000314425.5_Missense_Mutation_p.P284H NM_001171162.1 NP_001164633.1 Q14202 ZMYM3_HUMAN zinc finger, MYM-type 3 284 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) AGAGCGCCGGGGCCGGAATGG 0.567000 3 18 0.115264 0.119906 1 1 0 PDHA1 5160 broad.mit.edu 37 X 19377734 19377734 + Missense_Mutation SNP G G T TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chrX:19377734G>T ENST00000379806.5 + 12 1395 c.1250G>T c.(1249-1251)gGt>gTt p.G417V PDHA1_ENST00000422285.2_Missense_Mutation_p.G379V|PDHA1_ENST00000478795.1_3'UTR|PDHA1_ENST00000540249.1_Missense_Mutation_p.G348V|PDHA1_ENST00000545074.1_Missense_Mutation_p.G386V|PDHA1_ENST00000379804.1_Missense_Mutation_p.G98V NM_001173454.1 NP_001166925.1 P08559 ODPA_HUMAN pyruvate dehydrogenase (lipoamide) alpha 1 379 glycolysis|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate mitochondrial matrix protein binding|pyruvate dehydrogenase (acetyl-transferring) activity endometrium(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1) 18 Hepatocellular(33;0.183) NADH(DB00157) GAAGTTCGTGGTGCCAATCAG 0.512000 10 61 1.5842e-08 2.23228e-08 1 1 0 CARD16 114769 broad.mit.edu 37 11 104915304 104915304 + Nonsense_Mutation SNP A A C TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr11:104915304A>C ENST00000375706.2 - 2 106 c.89T>G c.(88-90)tTa>tGa p.L30* CARD16_ENST00000525374.1_Nonsense_Mutation_p.L30*|CASP1_ENST00000598974.1_Intron|CASP1_ENST00000594519.1_Intron|CASP1_ENST00000593315.1_Intron|CASP1_ENST00000415981.2_Intron|CARD16_ENST00000375704.3_Nonsense_Mutation_p.L30* NM_001017534.1 NP_001017534.1 caspase recruitment domain family, member 16 endometrium(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1) 11 CCTTGTCTGTAATAATTCATC 0.423000 50 178 0 0 1 0 0 FAM127C 441518 broad.mit.edu 37 X 134156229 134156229 + Silent SNP C C T TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chrX:134156229C>T ENST00000391440.1 - 1 330 c.261G>A c.(259-261)gaG>gaA p.E87E NM_001078173.1 NP_001071641.1 Q17RB0 F127C_HUMAN family with sequence similarity 127, member C 87 breast(1)|endometrium(2)|large_intestine(1)|lung(2) 6 Acute lymphoblastic leukemia(192;0.000127) GGAGGGGGCTCTCCTTCTTGA 0.627000 11 40 0 0 1 0 0 RABGGTA 5875 broad.mit.edu 37 14 24738889 24738889 + Missense_Mutation SNP C C A TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr14:24738889C>A ENST00000399409.3 - 5 922 c.439G>T c.(439-441)Gac>Tac p.D147Y RABGGTA_ENST00000560777.1_5'UTR|RABGGTA_ENST00000559586.1_5'UTR|RABGGTA_ENST00000216840.6_Missense_Mutation_p.D147Y NM_004581.5 NP_004572.3 Q92696 PGTA_HUMAN Rab geranylgeranyltransferase, alpha subunit 147 visual perception Rab geranylgeranyltransferase activity|zinc ion binding breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6) 12 GBM - Glioblastoma multiforme(265;0.0184) CGCCGATAGTCCCAGCAGTGA 0.587000 9 26 0.000442599 0.000515811 1 1 0 GCC1 79571 broad.mit.edu 37 7 127222755 127222755 + Silent SNP C C T TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr7:127222755C>T ENST00000321407.2 - 2 2065 c.1641G>A c.(1639-1641)caG>caA p.Q547Q NM_024523.5 NP_078799.2 Q96CN9 GCC1_HUMAN GRIP and coiled-coil domain containing 1 547 Golgi membrane|plasma membrane protein binding breast(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 38 CATCAGCCTCCTGCTGGTGTT 0.622000 9 54 0 0 1 0 0 SORCS3 22986 broad.mit.edu 37 10 106401672 106401672 + Missense_Mutation SNP A A C TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr10:106401672A>C ENST00000369701.3 + 1 814 c.587A>C c.(586-588)cAc>cCc p.H196P NM_014978.1 NP_055793.1 Q9UPU3 SORC3_HUMAN sortilin-related VPS10 domain containing receptor 3 196 integral to membrane neuropeptide receptor activity autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 131 Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191) Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628) GACTCGGCCCACAACCAAGCC 0.706000 3 20 0 0 1 0 0 EML4 27436 broad.mit.edu 37 2 42488428 42488428 + Missense_Mutation SNP C C T TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr2:42488428C>T ENST00000318522.5 + 4 768 c.506C>T c.(505-507)aCc>aTc p.T169I EML4_ENST00000402711.2_Intron|EML4_ENST00000401738.3_Missense_Mutation_p.T169I NM_019063.3 NP_061936.2 Q9HC35 EMAL4_HUMAN echinoderm microtubule associated protein like 4 169 microtubule-based process|mitosis cytoplasm|microtubule protein binding EML4/ALK(543) NS(2)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 12 GCTACTCCCACCAAAAGGTTT 0.433000 T ALK NSCLC 12 108 0 0 1 0 0 OR4M1 441670 broad.mit.edu 37 14 20248765 20248765 + Missense_Mutation SNP G G T TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr14:20248765G>T ENST00000315957.4 + 1 365 c.284G>T c.(283-285)gGt>gTt p.G95V NM_001005500.1 NP_001005500.1 Q8NGD0 OR4M1_HUMAN olfactory receptor, family 4, subfamily M, member 1 95 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2) 42 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) ATTTCCTTTGGTGGATGCATT 0.463000 26 128 1.77063e-15 2.8738e-15 1 1 0 ADAD1 132612 broad.mit.edu 37 4 123329128 123329128 + Missense_Mutation SNP G G T TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr4:123329128G>T ENST00000296513.2 + 8 975 c.790G>T c.(790-792)Gat>Tat p.D264Y ADAD1_ENST00000388725.2_Missense_Mutation_p.D246Y|ADAD1_ENST00000388724.2_Missense_Mutation_p.D264Y NM_139243.3 NP_640336.1 Q96M93 ADAD1_HUMAN adenosine deaminase domain containing 1 (testis-specific) 264 A to I editase. multicellular organismal development|RNA processing nucleus adenosine deaminase activity|double-stranded RNA binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 35 CATTAAGCCAGATGGAAGAGT 0.378000 12 65 9.31168e-06 1.19282e-05 1 1 0 ZNF521 25925 broad.mit.edu 37 18 22804575 22804575 + Missense_Mutation SNP C C A TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr18:22804575C>A ENST00000361524.3 - 4 3455 c.3307G>T c.(3307-3309)Gcc>Tcc p.A1103S ZNF521_ENST00000538137.2_Missense_Mutation_p.A1103S|ZNF521_ENST00000584787.1_Missense_Mutation_p.A883S NM_015461.2 NP_056276.1 Q96K83 ZN521_HUMAN zinc finger protein 521 1103 cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein domain specific binding|zinc ion binding NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 149 all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991) CCTGGGCTGGCGCTCTTACTG 0.537000 T PAX5 ALL 17 61 2.94398e-08 4.02042e-08 1 1 0 FAM126B 285172 broad.mit.edu 37 2 201857028 201857028 + Silent SNP T T A TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr2:201857028T>A ENST00000418596.2 - 10 994 c.807A>T c.(805-807)ctA>ctT p.L269L AC005037.3_ENST00000413848.1_RNA NM_173822.3 NP_776183.1 Q8IXS8 F126B_HUMAN family with sequence similarity 126, member B 269 intracellular endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 16 AAAAAAGCTCTAGCTGGGCTC 0.338000 15 66 0 0 1 0 0 PRPF4B 8899 broad.mit.edu 37 6 4037669 4037669 + Missense_Mutation SNP G G C TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr6:4037669G>C ENST00000337659.6 + 3 1377 c.1277G>C c.(1276-1278)aGa>aCa p.R426T PRPF4B_ENST00000538861.1_Missense_Mutation_p.R412T NM_003913.4 NP_003904.3 Q13523 PRP4B_HUMAN pre-mRNA processing factor 4B 426 Arg/Lys-rich (basic). catalytic step 2 spliceosome ATP binding|protein binding|protein serine/threonine kinase activity breast(6)|endometrium(3)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 22 Ovarian(93;0.0925) all_hematologic(90;0.0895) AGACGTGAAAGATCAAAAGAT 0.408000 4 48 0 0 1 0 0 OR5M1 390168 broad.mit.edu 37 11 56380698 56380698 + Missense_Mutation SNP T T A TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr11:56380698T>A ENST00000526538.1 - 1 280 c.281A>T c.(280-282)tAc>tTc p.Y94F NM_001004740.1 NP_001004740.1 Q8NGP8 OR5M1_HUMAN olfactory receptor, family 5, subfamily M, member 1 94 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|upper_aerodigestive_tract(1) 12 GCATCCAGCGTAGGAGATGGT 0.448000 12 56 0 0 1 0 0 SEMA6D 80031 broad.mit.edu 37 15 48063809 48063809 + Missense_Mutation SNP G G A TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr15:48063809G>A ENST00000316364.5 + 19 3488 c.3049G>A c.(3049-3051)Gtg>Atg p.V1017M SEMA6D_ENST00000354744.4_Missense_Mutation_p.V961M|SEMA6D_ENST00000358066.4_Missense_Mutation_p.V955M|SEMA6D_ENST00000558816.1_3'UTR|SEMA6D_ENST00000355997.3_3'UTR|SEMA6D_ENST00000389432.2_Missense_Mutation_p.V974M|SEMA6D_ENST00000558014.1_Missense_Mutation_p.V955M|SEMA6D_ENST00000537942.1_Missense_Mutation_p.V955M|SEMA6D_ENST00000389428.3_Missense_Mutation_p.V942M|SEMA6D_ENST00000389433.2_Missense_Mutation_p.V998M|SEMA6D_ENST00000536845.2_Missense_Mutation_p.V1017M NM_153618.1 NP_705871.1 Q8NFY4 SEM6D_HUMAN sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D 1017 axon guidance cytoplasm|integral to membrane|plasma membrane receptor activity biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4) 77 all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18) all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06) GGGAACACCAGTGAGTGTTCA 0.517000 24 100 0 0 1 0 0 PHF8 23133 broad.mit.edu 37 X 54069223 54069223 + Missense_Mutation SNP G G T TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chrX:54069223G>T ENST00000357988.5 - 2 405 c.47C>A c.(46-48)cCt>cAt p.P16H PHF8_ENST00000322659.8_5'UTR|PHF8_ENST00000338946.6_5'UTR|PHF8_ENST00000338154.6_5'UTR NM_001184896.1 NP_001171825.1 Q9UPP1 PHF8_HUMAN PHD finger protein 8 16 brain development|G1/S transition of mitotic cell cycle|negative regulation of chromatin silencing at rDNA|positive regulation of transcription from RNA polymerase I promoter|transcription, DNA-dependent nucleolus chromatin binding|histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 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 endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 40 AGGGGCGGGAGGCGGCAGCAC 0.642000 OREG0019805 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 2 3 0.0784 0.0826667 1 1 0 GABRG3 2567 broad.mit.edu 37 15 27222209 27222209 + Silent SNP G G A TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr15:27222209G>A ENST00000333743.6 + 2 368 c.114G>A c.(112-114)ttG>ttA p.L38L GABRG3_ENST00000555083.1_Silent_p.L38L NM_033223.4 NP_150092.2 Q99928 GBRG3_HUMAN gamma-aminobutyric acid (GABA) A receptor, gamma 3 38 gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(23)|skin(1)|upper_aerodigestive_tract(4) 42 all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235) all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261) AGTGGGTCTTGGCTCCAAAAT 0.418000 9 28 0 0 1 0 0 TRIM8 81603 broad.mit.edu 37 10 104416839 104416839 + Missense_Mutation SNP G G T TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr10:104416839G>T ENST00000302424.6 + 6 1506 c.1384G>T c.(1384-1386)Ggc>Tgc p.G462C NM_030912.2 NP_112174.2 Q9BZR9 TRIM8_HUMAN tripartite motif containing 8 462 cytoplasm|PML body ligase activity|protein homodimerization activity|zinc ion binding endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 15 Colorectal(252;0.122) Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215) CCAGTATGGCGGCCGCAAGAT 0.657000 9 53 0.000673444 0.000767528 1 1 0 CD1E 913 broad.mit.edu 37 1 158324263 158324263 + Missense_Mutation SNP A A T TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr1:158324263A>T ENST00000368160.3 + 2 155 c.155A>T c.(154-156)cAc>cTc p.H52L CD1E_ENST00000464822.1_Intron|CD1E_ENST00000434258.1_Missense_Mutation_p.H50L|CD1E_ENST00000368156.1_Missense_Mutation_p.H52L|CD1E_ENST00000368167.3_Missense_Mutation_p.H52L|CD1E_ENST00000368154.1_Intron|CD1E_ENST00000452291.2_Intron|CD1E_ENST00000368161.3_Missense_Mutation_p.H52L|CD1E_ENST00000368155.3_Missense_Mutation_p.H52L|CD1E_ENST00000368165.3_Missense_Mutation_p.H52L|CD1E_ENST00000444681.2_Intron|CD1E_ENST00000368164.3_Intron|CD1E_ENST00000368157.1_Intron|CD1E_ENST00000368163.3_Missense_Mutation_p.H52L|CD1E_ENST00000368166.3_Intron NM_001042583.2 NP_001036048.1 P15812 CD1E_HUMAN CD1e molecule 52 antigen processing and presentation|immune response early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1) 49 all_hematologic(112;0.0378) AGCTGGGCACACAGTGAGGGC 0.572000 30 49 0 0 1 0 0 NPHP1 4867 broad.mit.edu 37 2 110881617 110881625 + In_Frame_Del DEL GGACTTCAG GGACTTCAG - TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr2:110881617_110881625delGGACTTCAG ENST00000316534.4 - 20 2018_2026 c.1945_1953delCTGAAGTCC c.(1945-1953)del p.LKS649del NPHP1_ENST00000445609.2_In_Frame_Del_p.LKS593del|NPHP1_ENST00000417665.1_In_Frame_Del_p.LKS627del|NPHP1_ENST00000393272.3_In_Frame_Del_p.LKS648del|NPHP1_ENST00000355301.4_In_Frame_Del_p.LKS530del O15259 NPHP1_HUMAN nephronophthisis 1 (juvenile) 648 actin cytoskeleton organization|cell projection organization|cell-cell adhesion|excretion|retina development in camera-type eye|signal transduction|spermatid differentiation|visual behavior adherens junction|cell-cell junction|cilium axoneme|cytoplasm|cytoskeleton|motile cilium|photoreceptor connecting cilium protein binding|structural molecule activity autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(2) 24 GGAGAAACGTGGACTTCAGGAACTCTTTG 0.459 14 64 --- --- --- --- CNTN6 27255 broad.mit.edu 37 3 1339578 1339579 + Frame_Shift_Ins INS - - T TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr3:1339578_1339579insT ENST00000446702.2 + 7 1291_1292 c.664_665insT c.(664-666)gggfs p.G222fs CNTN6_ENST00000539053.1_Frame_Shift_Ins_p.G150fs|CNTN6_ENST00000350110.2_Frame_Shift_Ins_p.G222fs Q9UQ52 CNTN6_HUMAN contactin 6 222 axon guidance|cell adhesion|central nervous system development|Notch signaling pathway anchored to membrane|plasma membrane breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 90 all_cancers(2;0.000164)|all_epithelial(2;0.107) Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139) AACAGGTGTGATGGGGGAATAT 0.351 19 69 --- --- --- --- MKRN2 23609 broad.mit.edu 37 3 12623307 12623308 + Splice_Site INS - - A TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr3:12623307_12623308insA ENST00000170447.7 + 7 1106_1107 c.968_splice c.e7-1 p.GK323_splice MKRN2_ENST00000411987.1_Splice_Site_p.GK280_splice|MKRN2_ENST00000448482.1_Splice_Site_p.GK321_splice NM_001271707.1|NM_014160.3 NP_001258636.1|NP_054879.3 Q9H000 MKRN2_HUMAN makorin ring finger protein 2 323 intracellular ligase activity|nucleic acid binding|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(3) 16 TGCTTTTCAGGAAAAAAGCCTG 0.520 7 48 --- --- --- --- IGF2R 3482 broad.mit.edu 37 6 160464274 160464277 + Frame_Shift_Del DEL AGGC AGGC - TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr6:160464274_160464277delAGGC ENST00000356956.1 + 12 1723_1726 c.1575_1578delAGGC c.(1573-1578)gafs p.EG525fs NM_000876.2 NP_000867.2 P11717 MPRI_HUMAN insulin-like growth factor 2 receptor 525 receptor-mediated endocytosis cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 95 Breast(66;0.000777)|Ovarian(120;0.0305) OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05) TGCTGCAGGAAGGCAAGGCACGAG 0.505 11 110 --- --- --- --- FOXE1 2304 broad.mit.edu 37 9 100616701 100616706 + In_Frame_Del DEL GCCGCC GCCGCC - rs11279082 TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr9:100616701_100616706delGCCGCC ENST00000375123.3 + 1 1166_1171 c.505_510delGCCGCC c.(505-510)del p.AA177del NM_004473.3 NP_004464.2 O00358 FOXE1_HUMAN forkhead box E1 (thyroid transcription factor 2) 177 Ala-rich.|Poly-Ala. cell migration|embryonic organ morphogenesis|hair follicle morphogenesis|hard palate development|lens morphogenesis in camera-type eye|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|peripheral nervous system development|pharynx development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|soft palate development|thymus development|thyroid gland development|thyroid hormone generation transcription factor complex DNA bending activity|double-stranded DNA binding|promoter 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 central_nervous_system(1)|endometrium(1)|lung(2)|upper_aerodigestive_tract(1) 5 Acute lymphoblastic leukemia(62;0.158) Ggctgccgcagccgccgccgccgccg 0.767 2 4 --- --- --- --- NOL4 8715 broad.mit.edu 37 18 31709851 31709851 + Frame_Shift_Del DEL T T - TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr18:31709851delT ENST00000261592.5 - 2 695 c.398delA c.(397-399)agfs p.K133fs NOL4_ENST00000538587.1_Frame_Shift_Del_p.K59fs|NOL4_ENST00000535475.1_5'UTR|NOL4_ENST00000589544.1_Frame_Shift_Del_p.K133fs|NOL4_ENST00000269185.4_Frame_Shift_Del_p.K19fs NM_001198546.1|NM_003787.4 NP_001185475.1|NP_003778.2 O94818 NOL4_HUMAN nucleolar protein 4 133 nucleolus RNA binding NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 51 GTAAGTTCTCTTTTGTCCAGC 0.358 16 62 --- --- --- --- FHOD3 80206 broad.mit.edu 37 18 34289064 34289064 + Frame_Shift_Del DEL C C - TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr18:34289064delC ENST00000257209.4 + 15 1840 c.1718delC c.(1717-1719)gcfs p.A573fs FHOD3_ENST00000591635.1_Intron|FHOD3_ENST00000445677.1_Frame_Shift_Del_p.A535fs|FHOD3_ENST00000587493.1_3'UTR|FHOD3_ENST00000359247.4_Frame_Shift_Del_p.A556fs|FHOD3_ENST00000590592.1_Frame_Shift_Del_p.A748fs NM_025135.2 NP_079411.2 Q2V2M9 FHOD3_HUMAN formin homology 2 domain containing 3 556 actin cytoskeleton organization cytoplasm|cytoskeleton actin binding NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1) 90 all_epithelial(2;0.0181)|Colorectal(2;0.0195) CCAGCAAGTGCCGGGGATCCT 0.537 48 213 --- --- --- --- ZNF761 388561 broad.mit.edu 37 19 53959847 53959847 + RNA DEL G G - TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr19:53959847delG ENST00000454407.1 + 0 2539 Q86XN6 ZN761_HUMAN zinc finger protein 761 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 30 GBM - Glioblastoma multiforme(134;0.00786) TAATGAGTGTGGCAAGAACTT 0.393 14 99 --- --- --- --- RP5-963E22.4 0 broad.mit.edu 37 20 61798915 61798916 + RNA INS - - C rs61134431 by1000genomes TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr20:61798915_61798916insC ENST00000423020.1 - 0 188 ccccacctcagaccctcctcag 0.703 2 4 --- --- --- ---