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 KIAA0355 9710 broad.mit.edu 37 19 34832986 34832986 + Missense_Mutation SNP G G A TCGA-CS-4941-01A-01D-1468-08 TCGA-CS-4941-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 003ed478-ceca-4752-8ae4-4cf12e6844bd 56e3b45b-55fa-4b7e-8998-920c8125aab1 g.chr19:34832986G>A ENST00000299505.6 + 10 3020 c.2147G>A c.(2146-2148)gGa>gAa p.G716E NM_014686.3 NP_055501.2 O15063 K0355_HUMAN KIAA0355 716 breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 41 Esophageal squamous(110;0.162) CCCCAGCCGGGACTGGCACCT 0.647000 54 142 0 0 1 0 0 RGS21 431704 broad.mit.edu 37 1 192321182 192321182 + Missense_Mutation SNP C C A TCGA-CS-4941-01A-01D-1468-08 TCGA-CS-4941-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 003ed478-ceca-4752-8ae4-4cf12e6844bd 56e3b45b-55fa-4b7e-8998-920c8125aab1 g.chr1:192321182C>A ENST00000417209.2 + 4 268 c.94C>A c.(94-96)Cta>Ata p.L32I NM_001039152.3 NP_001034241.1 Q2M5E4 RGS21_HUMAN regulator of G-protein signaling 21 32 RGS. negative regulation of signal transduction cytoplasm|plasma membrane GTPase activator activity|signal transducer activity NS(1)|endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|skin(1) 15 TATAGCTGGTCTAGATGCTTT 0.303000 19 41 1.56452e-12 1.74053e-12 1 1 0 CUX1 1523 broad.mit.edu 37 7 101924100 101924100 + Missense_Mutation SNP G G T TCGA-CS-4941-01A-01D-1468-08 TCGA-CS-4941-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 003ed478-ceca-4752-8ae4-4cf12e6844bd 56e3b45b-55fa-4b7e-8998-920c8125aab1 g.chr7:101924100G>T ENST00000437600.4 + 20 2115 c.1763G>T c.(1762-1764)cGg>cTg p.R588L CUX1_ENST00000393824.3_Missense_Mutation_p.R551L|CUX1_ENST00000292538.4_Missense_Mutation_p.R590L|CUX1_ENST00000425244.2_Missense_Mutation_p.R544L|CUX1_ENST00000547394.2_Missense_Mutation_p.R574L|CUX1_ENST00000560541.1_3'UTR NM_181500.2 NP_852477.1 P39880 CUX1_HUMAN cut-like homeobox 1 177 negative regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5) 70 GTGCAGGAGCGGCAGAGGAAG 0.652000 3 81 1 1 1 1 0 MGAM 8972 broad.mit.edu 37 7 141736692 141736692 + Missense_Mutation SNP C C T TCGA-CS-4941-01A-01D-1468-08 TCGA-CS-4941-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 003ed478-ceca-4752-8ae4-4cf12e6844bd 56e3b45b-55fa-4b7e-8998-920c8125aab1 g.chr7:141736692C>T ENST00000475668.2 + 18 2200 c.2146C>T c.(2146-2148)Cgc>Tgc p.R716C MGAM_ENST00000549489.2_Missense_Mutation_p.R716C O43451 MGA_HUMAN maltase-glucoamylase (alpha-glucosidase) 716 Maltase. polysaccharide digestion|starch catabolic process apical plasma membrane|integral to membrane carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2) 13 Melanoma(164;0.0272) Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878) CCTTAACATCCGCTATACTCT 0.532000 93 302 0 0 1 0 0 BIN1 274 broad.mit.edu 37 2 127828379 127828379 + Missense_Mutation SNP C C T TCGA-CS-4941-01A-01D-1468-08 TCGA-CS-4941-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 003ed478-ceca-4752-8ae4-4cf12e6844bd 56e3b45b-55fa-4b7e-8998-920c8125aab1 g.chr2:127828379C>T ENST00000316724.5 - 3 590 c.179G>A c.(178-180)cGg>cAg p.R60Q BIN1_ENST00000352848.3_Missense_Mutation_p.R60Q|BIN1_ENST00000409400.1_Missense_Mutation_p.R60Q|BIN1_ENST00000393041.3_Missense_Mutation_p.R60Q|BIN1_ENST00000351659.3_Missense_Mutation_p.R60Q|BIN1_ENST00000348750.4_Missense_Mutation_p.R60Q|BIN1_ENST00000346226.3_Missense_Mutation_p.R60Q|BIN1_ENST00000357970.3_Missense_Mutation_p.R60Q|BIN1_ENST00000393040.3_Missense_Mutation_p.R60Q|BIN1_ENST00000376113.2_Missense_Mutation_p.R60Q|BIN1_ENST00000259238.4_Missense_Mutation_p.R60Q NM_139343.2 NP_647593.1 O00499 BIN1_HUMAN bridging integrator 1 60 BAR.|Interaction with BIN2. cell proliferation|endocytosis|interspecies interaction between organisms|multicellular organismal development actin cytoskeleton|nucleus NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(3)|skin(3) 24 Colorectal(110;0.0831) BRCA - Breast invasive adenocarcinoma(221;0.073) CTTCTGCAGCCGGGTGCCCTC 0.637000 12 41 0 0 1 0 0 DNAH11 8701 broad.mit.edu 37 7 21730409 21730409 + Missense_Mutation SNP C C T TCGA-CS-4941-01A-01D-1468-08 TCGA-CS-4941-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 003ed478-ceca-4752-8ae4-4cf12e6844bd 56e3b45b-55fa-4b7e-8998-920c8125aab1 g.chr7:21730409C>T ENST00000328843.6 + 36 6003 c.5972C>T c.(5971-5973)aCa>aTa p.T1991I DNAH11_ENST00000409508.3_Missense_Mutation_p.T1984I Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 1991 AAA 1 (By similarity). microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 230 GAAGCTATCACACTGAAGCCA 0.363000 Kartagener syndrome 6 325 0 0 1 0 0 FLG 2312 broad.mit.edu 37 1 152275719 152275719 + Silent SNP C C T TCGA-CS-4941-01A-01D-1468-08 TCGA-CS-4941-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 003ed478-ceca-4752-8ae4-4cf12e6844bd 56e3b45b-55fa-4b7e-8998-920c8125aab1 g.chr1:152275719C>T ENST00000368799.1 - 3 11678 c.11643G>A c.(11641-11643)gaG>gaA p.E3881E FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 3881 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TGGAAGCAGACTCAGATCGCC 0.567000 Ichthyosis 43 158 0 0 1 0 0 SDPR 8436 broad.mit.edu 37 2 192711355 192711355 + Silent SNP C C T TCGA-CS-4941-01A-01D-1468-08 TCGA-CS-4941-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 003ed478-ceca-4752-8ae4-4cf12e6844bd 56e3b45b-55fa-4b7e-8998-920c8125aab1 g.chr2:192711355C>T ENST00000304141.4 - 1 626 c.297G>A c.(295-297)aaG>aaA p.K99K AC098617.1_ENST00000424116.2_RNA NM_004657.5 NP_004648.1 O95810 SDPR_HUMAN serum deprivation response 99 caveola|cytosol phosphatidylserine binding|protein binding NS(1)|central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(3) 23 OV - Ovarian serous cystadenocarcinoma(117;0.0647) Phosphatidylserine(DB00144) ACTTGGAGAGCTTGGTGAGGT 0.592000 21 52 0 0 1 0 0 CHEK2 11200 broad.mit.edu 37 22 29091841 29091841 + Silent SNP G G A rs146546850 byFrequency TCGA-CS-4941-01A-01D-1468-08 TCGA-CS-4941-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 003ed478-ceca-4752-8ae4-4cf12e6844bd 56e3b45b-55fa-4b7e-8998-920c8125aab1 g.chr22:29091841G>A ENST00000544772.1 - 12 1889 c.453C>T c.(451-453)tcC>tcT p.S151S CHEK2_ENST00000404276.1_Silent_p.S372S|CHEK2_ENST00000403642.1_Silent_p.S281S|CHEK2_ENST00000402731.1_Silent_p.S343S|CHEK2_ENST00000382580.2_Silent_p.S415S|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000405598.1_Silent_p.S372S|CHEK2_ENST00000382578.1_Silent_p.S281S|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000348295.3_Silent_p.S343S|CHEK2_ENST00000328354.6_Silent_p.S372S NM_001257387.1 NP_001244316.1 O96017 CHK2_HUMAN checkpoint kinase 2 372 FHA. cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence PML body ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity p.S372S(8) central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2) 50 CCAAAATCTTGGAGTGCCCAA 0.413000 F breast Direct reversal of damage;Other conserved DNA damage response genes 3 93 0 0 1 0 0 ZNF675 171392 broad.mit.edu 37 19 23836144 23836144 + Missense_Mutation SNP T T A TCGA-CS-4941-01A-01D-1468-08 TCGA-CS-4941-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 003ed478-ceca-4752-8ae4-4cf12e6844bd 56e3b45b-55fa-4b7e-8998-920c8125aab1 g.chr19:23836144T>A ENST00000359788.4 - 4 1759 c.1591A>T c.(1591-1593)Act>Tct p.T531S ZNF675_ENST00000601935.1_Intron|ZNF675_ENST00000600313.1_Intron|ZNF675_ENST00000596211.1_Intron NM_138330.2 NP_612203.2 Q8TD23 ZN675_HUMAN zinc finger protein 675 531 bone resorption|cytokine-mediated signaling pathway|hemopoiesis|I-kappaB kinase/NF-kappaB cascade|negative regulation of JNK cascade|negative regulation of osteoclast differentiation|negative regulation of protein kinase activity|negative regulation of transcription, DNA-dependent|regulation of ossification|transcription, DNA-dependent cytoplasm|nucleus DNA binding|protein binding|zinc ion binding endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 27 all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206) TTCTCTCCAGTATGAATTATC 0.343000 21 71 0 0 1 0 0 DMGDH 29958 broad.mit.edu 37 5 78347300 78347300 + Missense_Mutation SNP C C A TCGA-CS-4941-01A-01D-1468-08 TCGA-CS-4941-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 003ed478-ceca-4752-8ae4-4cf12e6844bd 56e3b45b-55fa-4b7e-8998-920c8125aab1 g.chr5:78347300C>A ENST00000255189.3 - 5 583 c.555G>T c.(553-555)ttG>ttT p.L185F DMGDH_ENST00000540686.1_Intron|DMGDH_ENST00000380311.4_Intron NM_013391.2 NP_037523.2 Q9UI17 M2GD_HUMAN dimethylglycine dehydrogenase 185 choline metabolic process|glycine catabolic process mitochondrial matrix aminomethyltransferase activity|dimethylglycine dehydrogenase activity|electron carrier activity breast(2)|endometrium(2)|kidney(2)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1) 34 all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192) OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35) CAGGATTATACAATCCAGCTA 0.363000 3 88 0.115264 0.122125 1 1 0 CCDC84 338657 broad.mit.edu 37 11 118885707 118885707 + Missense_Mutation SNP C C G TCGA-CS-4941-01A-01D-1468-08 TCGA-CS-4941-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 003ed478-ceca-4752-8ae4-4cf12e6844bd 56e3b45b-55fa-4b7e-8998-920c8125aab1 g.chr11:118885707C>G ENST00000334418.1 + 9 775 c.719C>G c.(718-720)gCc>gGc p.A240G NM_198489.1 NP_940891.1 Q86UT8 CCD84_HUMAN coiled-coil domain containing 84 240 breast(1)|kidney(1)|large_intestine(1)|liver(1)|ovary(1) 5 all_hematologic(175;0.0839) Medulloblastoma(222;0.0523)|all_neural(223;0.224)|all_hematologic(192;0.243) BRCA - Breast invasive adenocarcinoma(274;7.72e-05) TTTTCAGGTGCCACACCTCCC 0.353000 31 71 0 0 1 0 0 KRT75 9119 broad.mit.edu 37 12 52824475 52824475 + Missense_Mutation SNP C C A TCGA-CS-4941-01A-01D-1468-08 TCGA-CS-4941-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 003ed478-ceca-4752-8ae4-4cf12e6844bd 56e3b45b-55fa-4b7e-8998-920c8125aab1 g.chr12:52824475C>A ENST00000252245.5 - 5 1105 c.885G>T c.(883-885)ttG>ttT p.L295F NM_004693.2 NP_004684.2 O95678 K2C75_HUMAN keratin 75 295 Coil 1B.|Rod. keratin filament structural molecule activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(10)|prostate(1)|skin(1) 28 BRCA - Breast invasive adenocarcinoma(357;0.192) CCTGGGTCTGCAACTGGGACA 0.507000 3 119 0.115264 0.122125 1 1 0 FNDC3A 22862 broad.mit.edu 37 13 49772709 49772709 + Splice_Site SNP C C A TCGA-CS-4941-01A-01D-1468-08 TCGA-CS-4941-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 003ed478-ceca-4752-8ae4-4cf12e6844bd 56e3b45b-55fa-4b7e-8998-920c8125aab1 g.chr13:49772709C>A ENST00000492622.2 + 23 3291 c.2987_splice c.e23+1 p.R996_splice FNDC3A_ENST00000541916.1_Splice_Site_p.R996_splice|FNDC3A_ENST00000398316.3_Splice_Site_p.R940_splice NM_001079673.1 NP_001073141.1 Q9Y2H6 FND3A_HUMAN fibronectin type III domain containing 3A 996 Fibronectin type-III 8. Golgi membrane|integral to membrane p.R996W(1) endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|prostate(5)|skin(2)|urinary_tract(1) 41 all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19) KIRC - Kidney renal clear cell carcinoma(9;0.206) GBM - Glioblastoma multiforme(99;2.94e-09) TAAGAATGGACGGTAGGTTTT 0.398000 3 93 0.115264 0.122125 1 1 0 PDGFRA 5156 broad.mit.edu 37 4 55161298 55161298 + Missense_Mutation SNP G G C TCGA-CS-4941-01A-01D-1468-08 TCGA-CS-4941-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 003ed478-ceca-4752-8ae4-4cf12e6844bd 56e3b45b-55fa-4b7e-8998-920c8125aab1 g.chr4:55161298G>C ENST00000257290.5 + 23 3460 c.3129G>C c.(3127-3129)caG>caC p.Q1043H FIP1L1_ENST00000507166.1_Missense_Mutation_p.Q803H NM_006206.4 NP_006197.1 P16234 PGFRA_HUMAN platelet-derived growth factor receptor, alpha polypeptide 1043 Ser-rich. cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye cytoplasm|integral to plasma membrane|nucleus ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1) 967 all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08) GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256) Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268) CCAGCTCGCAGACCTCTGAAG 0.507000 """Mis, O, T""" FIP1L1 """GIST, idiopathic hypereosinophilic syndrome, paediatric GBM""" Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis TSP Lung(21;0.16) 5 129 0 0 1 0 0 LIN28A 79727 broad.mit.edu 37 1 26751934 26751934 + Silent SNP G G A TCGA-CS-4941-01A-01D-1468-08 TCGA-CS-4941-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 003ed478-ceca-4752-8ae4-4cf12e6844bd 56e3b45b-55fa-4b7e-8998-920c8125aab1 g.chr1:26751934G>A ENST00000326279.6 + 3 483 c.369G>A c.(367-369)cgG>cgA p.R123R LIN28A_ENST00000254231.4_Silent_p.R123R NM_024674.4 NP_078950.1 Q9H9Z2 LN28A_HUMAN lin-28 homolog A (C. elegans) 123 miRNA catabolic process|pre-miRNA processing|regulation of transcription, DNA-dependent|RNA 3'-end processing|stem cell maintenance cytoplasmic mRNA processing body|nucleolus|stress granule DNA binding|zinc ion binding central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2) 8 GTGAGAGGCGGCCAAAAGGAA 0.512000 4 235 0 0 1 0 0 TPP2 7174 broad.mit.edu 37 13 103299660 103299660 + Missense_Mutation SNP G G C rs142623109 TCGA-CS-4941-01A-01D-1468-08 TCGA-CS-4941-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 003ed478-ceca-4752-8ae4-4cf12e6844bd 56e3b45b-55fa-4b7e-8998-920c8125aab1 g.chr13:103299660G>C ENST00000376052.3 + 21 2610 c.2594G>C c.(2593-2595)aGa>aCa p.R865T TPP2_ENST00000376065.4_Missense_Mutation_p.R865T P29144 TPP2_HUMAN tripeptidyl peptidase II 865 proteolysis cytoplasm|nucleus aminopeptidase activity|serine-type endopeptidase activity|tripeptidyl-peptidase activity breast(2)|endometrium(5)|kidney(2)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 52 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) CAGAACAAAAGACAGATGGGT 0.388000 23 43 0 0 1 0 0 CLASP1 23332 broad.mit.edu 37 2 122139824 122139824 + Missense_Mutation SNP C C T TCGA-CS-4941-01A-01D-1468-08 TCGA-CS-4941-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 003ed478-ceca-4752-8ae4-4cf12e6844bd 56e3b45b-55fa-4b7e-8998-920c8125aab1 g.chr2:122139824C>T ENST00000263710.4 - 33 3840 c.3451G>A c.(3451-3453)Gct>Act p.A1151T CLASP1_ENST00000541859.1_Intron|CLASP1_ENST00000541377.1_Intron|CLASP1_ENST00000409078.3_Intron|CLASP1_ENST00000545861.1_Intron|CLASP1_ENST00000397587.3_Intron|CLASP1_ENST00000455322.2_Intron NM_015282.2 NP_056097.1 Q7Z460 CLAP1_HUMAN cytoplasmic linker associated protein 1 1151 axon guidance|cell division|establishment or maintenance of cell polarity|exit from mitosis|G2/M transition of mitotic cell cycle|microtubule anchoring|microtubule bundle formation|microtubule nucleation|microtubule organizing center organization|mitotic prometaphase|negative regulation of microtubule depolymerization centrosomal corona|condensed chromosome kinetochore|cortical microtubule cytoskeleton|cytoplasmic microtubule|cytosol|Golgi apparatus|kinetochore microtubule kinetochore binding|microtubule plus-end binding NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1) 47 Renal(3;0.0496) TGGGAGGGAGCGGTGGGGATG 0.522000 10 11 0 0 1 0 0 CRNN 49860 broad.mit.edu 37 1 152383181 152383181 + Missense_Mutation SNP G G A TCGA-CS-4941-01A-01D-1468-08 TCGA-CS-4941-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 003ed478-ceca-4752-8ae4-4cf12e6844bd 56e3b45b-55fa-4b7e-8998-920c8125aab1 g.chr1:152383181G>A ENST00000271835.3 - 3 439 c.377C>T c.(376-378)gCg>gTg p.A126V RP1-91G5.3_ENST00000411804.1_RNA NM_016190.2 NP_057274.1 Q9UBG3 CRNN_HUMAN cornulin 126 cell-cell adhesion|response to heat cytoplasm|membrane calcium ion binding breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 35 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) CCCTTTCCCCGCCCTTCCCAC 0.637000 13 448 0 0 1 0 0 KRTAP21-2 337978 broad.mit.edu 37 21 32119504 32119504 + Missense_Mutation SNP T T C rs145167151 TCGA-CS-4941-01A-01D-1468-08 TCGA-CS-4941-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 003ed478-ceca-4752-8ae4-4cf12e6844bd 56e3b45b-55fa-4b7e-8998-920c8125aab1 g.chr21:32119504T>C ENST00000333892.2 - 1 47 c.17A>G c.(16-18)tAc>tGc p.Y6C NM_181617.1 NP_853648.1 Q3LI59 KR212_HUMAN keratin associated protein 21-2 6 intermediate filament lung(4)|skin(2)|upper_aerodigestive_tract(1) 7 GCAGTTTCTGTAGTAGTTGCA 0.468000 50 106 0 0 1 0 0 ZNF536 9745 broad.mit.edu 37 19 31038959 31038959 + Silent SNP G G A TCGA-CS-4941-01A-01D-1468-08 TCGA-CS-4941-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 003ed478-ceca-4752-8ae4-4cf12e6844bd 56e3b45b-55fa-4b7e-8998-920c8125aab1 g.chr19:31038959G>A ENST00000355537.3 + 4 2580 c.2433G>A c.(2431-2433)ccG>ccA p.P811P NM_014717.1 NP_055532.1 O15090 ZN536_HUMAN zinc finger protein 536 811 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 182 Esophageal squamous(110;0.0834) GGGCTGGGCCGCTGTCTGGGC 0.567000 32 90 0 0 1 0 0 CHEK2 11200 broad.mit.edu 37 22 29091840 29091840 + Missense_Mutation SNP T T C rs142470496 byFrequency TCGA-CS-4941-01A-01D-1468-08 TCGA-CS-4941-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 003ed478-ceca-4752-8ae4-4cf12e6844bd 56e3b45b-55fa-4b7e-8998-920c8125aab1 g.chr22:29091840T>C ENST00000544772.1 - 12 1890 c.454A>G c.(454-456)Aag>Gag p.K152E CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000405598.1_Missense_Mutation_p.K373E|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E NM_001257387.1 NP_001244316.1 O96017 CHK2_HUMAN checkpoint kinase 2 373 FHA. cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence PML body ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity p.K373E(9) central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2) 50 CCCAAAATCTTGGAGTGCCCA 0.418000 F breast Direct reversal of damage;Other conserved DNA damage response genes 3 94 0 0 1 0 0 OR10A5 144124 broad.mit.edu 37 11 6867517 6867517 + Missense_Mutation SNP G G A TCGA-CS-4941-01A-01D-1468-08 TCGA-CS-4941-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 003ed478-ceca-4752-8ae4-4cf12e6844bd 56e3b45b-55fa-4b7e-8998-920c8125aab1 g.chr11:6867517G>A ENST00000299454.4 + 1 635 c.604G>A c.(604-606)Gtc>Atc p.V202I OR10A5_ENST00000379831.2_Missense_Mutation_p.V206I Q9H207 O10A5_HUMAN olfactory receptor, family 10, subfamily A, member 5 202 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.V202L(1) endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(1)|skin(2)|urinary_tract(2) 21 Medulloblastoma(188;0.0523)|all_neural(188;0.236) Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129) CTACGCCATCGTCGGAACCAT 0.512000 53 135 0 0 1 0 0 BASP1 10409 broad.mit.edu 37 5 17275508 17275508 + Silent SNP C C T TCGA-CS-4941-01A-01D-1468-08 TCGA-CS-4941-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 003ed478-ceca-4752-8ae4-4cf12e6844bd 56e3b45b-55fa-4b7e-8998-920c8125aab1 g.chr5:17275508C>T ENST00000322611.3 + 2 443 c.183C>T c.(181-183)gaC>gaT p.D61D NM_001271606.1|NM_006317.3 NP_001258535.1|NP_006308.3 P80723 BASP1_HUMAN brain abundant, membrane attached signal protein 1 61 glomerular visceral epithelial cell differentiation|negative regulation of transcription, DNA-dependent cytoplasm|cytoskeleton|growth cone|nuclear speck|plasma membrane protein domain specific binding|transcription corepressor activity|transcription regulatory region DNA binding endometrium(1)|lung(8) 9 CCGACCAGGACGCCGAGGGCA 0.736000 3 6 0 0 1 0 0 SMARCA1 6594 broad.mit.edu 37 X 128632026 128632026 + Missense_Mutation SNP C C G rs35325660 TCGA-CS-4941-01A-01D-1468-08 TCGA-CS-4941-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 003ed478-ceca-4752-8ae4-4cf12e6844bd 56e3b45b-55fa-4b7e-8998-920c8125aab1 g.chrX:128632026C>G ENST00000371122.4 - 11 1429 c.1300G>C c.(1300-1302)Gat>Cat p.D434H SMARCA1_ENST00000371123.1_Missense_Mutation_p.D434H|SMARCA1_ENST00000371121.3_Missense_Mutation_p.D434H NM_003069.3 NP_003060.2 P28370 SMCA1_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1 434 ATP-dependent chromatin remodeling|brain development|neuron differentiation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent NURF complex ATP binding|DNA binding|helicase activity|nucleosome binding|protein binding biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(13)|ovary(5)|prostate(1)|skin(1) 45 ACATCAATATCTTTCATCAGG 0.308000 18 18 0 0 1 0 0 SOCS5 0 broad.mit.edu 37 2 46985884 46985884 + Nonsense_Mutation SNP C C A TCGA-CS-4941-01A-01D-1468-08 TCGA-CS-4941-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 003ed478-ceca-4752-8ae4-4cf12e6844bd 56e3b45b-55fa-4b7e-8998-920c8125aab1 g.chr2:46985884C>A ENST00000306503.5 + 2 387 c.215C>A c.(214-216)tCg>tAg p.S72* SOCS5_ENST00000394861.2_Nonsense_Mutation_p.S72* NM_014011.4 NP_054730.1 O75159 SOCS5_HUMAN suppressor of cytokine signaling 5 72 cell growth|cytokine-mediated signaling pathway|intracellular signal transduction|negative regulation of signal transduction|negative regulation of T-helper 2 cell differentiation|positive regulation of T-helper 1 cell differentiation|regulation of growth breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(9)|ovary(2) 22 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) LUSC - Lung squamous cell carcinoma(58;0.114) TTAAGCCCTTCGAAGAATTCT 0.388000 3 94 1 1 1 1 0 TMEM245 23731 broad.mit.edu 37 9 111782777 111782777 + Missense_Mutation SNP C C A TCGA-CS-4941-01A-01D-1468-08 TCGA-CS-4941-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 003ed478-ceca-4752-8ae4-4cf12e6844bd 56e3b45b-55fa-4b7e-8998-920c8125aab1 g.chr9:111782777C>A ENST00000374586.3 - 18 2634 c.2603G>T c.(2602-2604)cGt>cTt p.R868L NM_032012.3 NP_114401.2 Q9H330 CI005_HUMAN transmembrane protein 245 868 integral to membrane AGAAATGTCACGGAAAGTCCT 0.353000 3 118 1 1 1 1 0 KRT222 125113 broad.mit.edu 37 17 38812821 38812821 + Nonsense_Mutation SNP G G A TCGA-CS-4941-01A-01D-1468-08 TCGA-CS-4941-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 003ed478-ceca-4752-8ae4-4cf12e6844bd 56e3b45b-55fa-4b7e-8998-920c8125aab1 g.chr17:38812821G>A ENST00000476049.1 - 6 762 c.721C>T c.(721-723)Cga>Tga p.R241* KRT222_ENST00000394052.3_Nonsense_Mutation_p.R241* Q8N1A0 KT222_HUMAN keratin 222 241 intermediate filament structural molecule activity breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|prostate(2)|skin(1) 15 TTCCTCAATCGAGGGTTATCT 0.338000 34 85 0 0 1 0 0 PNPLA7 375775 broad.mit.edu 37 9 140409907 140409907 + Silent SNP C C T TCGA-CS-4941-01A-01D-1468-08 TCGA-CS-4941-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 003ed478-ceca-4752-8ae4-4cf12e6844bd 56e3b45b-55fa-4b7e-8998-920c8125aab1 g.chr9:140409907C>T ENST00000406427.1 - 12 1485 c.1149G>A c.(1147-1149)gcG>gcA p.A383A PNPLA7_ENST00000371457.1_5'UTR|PNPLA7_ENST00000277531.4_Silent_p.A358A NM_001098537.1 NP_001092007.1 Q6ZV29 PLPL7_HUMAN patatin-like phospholipase domain containing 7 358 lipid metabolic process endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane hydrolase activity breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 40 all_cancers(76;0.126) OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839) GAATGGAAGGCGCGGGGACGG 0.657000 3 9 0 0 1 0 0 TNNT1 7138 broad.mit.edu 37 19 55649402 55649402 + Missense_Mutation SNP C C T TCGA-CS-4941-01A-01D-1468-08 TCGA-CS-4941-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 003ed478-ceca-4752-8ae4-4cf12e6844bd 56e3b45b-55fa-4b7e-8998-920c8125aab1 g.chr19:55649402C>T ENST00000588981.1 - 10 632 c.428G>A c.(427-429)cGg>cAg p.R143Q TNNT1_ENST00000587758.1_Missense_Mutation_p.R132Q|TNNT1_ENST00000356783.5_Missense_Mutation_p.R132Q|TNNT1_ENST00000587465.2_Missense_Mutation_p.R73Q|TNNT1_ENST00000592920.1_5'UTR|TNNT1_ENST00000585321.2_Missense_Mutation_p.R73Q|TNNT1_ENST00000291901.8_Missense_Mutation_p.R143Q|TNNT1_ENST00000536926.1_Missense_Mutation_p.R132Q|TNNT1_ENST00000588426.1_Missense_Mutation_p.R40Q NM_003283.4 NP_003274.3 P13805 TNNT1_HUMAN troponin T type 1 (skeletal, slow) 143 muscle filament sliding|negative regulation of muscle contraction cytosol|troponin complex tropomyosin binding endometrium(2)|kidney(3)|lung(4)|ovary(1) 10 BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.047) ATCCTCTGCCCGCTTCTTGGC 0.572000 32 97 0 0 1 0 0 DNHD1 144132 broad.mit.edu 37 11 6588129 6588129 + Missense_Mutation SNP G G A TCGA-CS-4941-01A-01D-1468-08 TCGA-CS-4941-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 003ed478-ceca-4752-8ae4-4cf12e6844bd 56e3b45b-55fa-4b7e-8998-920c8125aab1 g.chr11:6588129G>A ENST00000254579.6 + 36 11954 c.11390G>A c.(11389-11391)cGg>cAg p.R3797Q DNHD1_ENST00000527990.2_Missense_Mutation_p.R3797Q NM_144666.2 NP_653267.2 Q96M86 DNHD1_HUMAN dynein heavy chain domain 1 3797 microtubule-based movement dynein complex microtubule motor activity NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 55 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171) Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13) ATGCAGGAGCGGCTGCTGACG 0.542000 7 6 0 0 1 0 0 ZNF366 0 broad.mit.edu 37 5 71756221 71756221 + Missense_Mutation SNP A A G TCGA-CS-4941-01A-01D-1468-08 TCGA-CS-4941-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 003ed478-ceca-4752-8ae4-4cf12e6844bd 56e3b45b-55fa-4b7e-8998-920c8125aab1 g.chr5:71756221A>G ENST00000318442.5 - 2 1593 c.1103T>C c.(1102-1104)gTg>gCg p.V368A NM_152625.1 NP_689838.1 Q8N895 ZN366_HUMAN zinc finger protein 366 368 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 35 Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155) OV - Ovarian serous cystadenocarcinoma(47;2.51e-53) GCCGCACTCCACACAGATGTT 0.657000 11 41 0 0 1 0 0 LINC00969 0 broad.mit.edu 37 3 195410687 195410687 + RNA SNP T T A rs6583274 by1000genomes TCGA-CS-4941-01A-01D-1468-08 TCGA-CS-4941-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 003ed478-ceca-4752-8ae4-4cf12e6844bd 56e3b45b-55fa-4b7e-8998-920c8125aab1 g.chr3:195410687T>A ENST00000445430.1 + 0 1884 CCCTTTGAGGTGCACTGGAGG 0.567000 3 42 0 0 1 0 0 EFR3A 23167 broad.mit.edu 37 8 132971845 132971845 + Missense_Mutation SNP C C G TCGA-CS-4941-01A-01D-1468-08 TCGA-CS-4941-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 003ed478-ceca-4752-8ae4-4cf12e6844bd 56e3b45b-55fa-4b7e-8998-920c8125aab1 g.chr8:132971845C>G ENST00000254624.5 + 8 1015 c.790C>G c.(790-792)Cac>Gac p.H264D EFR3A_ENST00000334503.4_Missense_Mutation_p.H264D|EFR3A_ENST00000519656.1_Missense_Mutation_p.H228D NM_015137.4 NP_055952.2 Q14156 EFR3A_HUMAN EFR3 homolog A (S. cerevisiae) 264 plasma membrane binding breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|skin(1)|stomach(2) 35 Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000805)|LUAD - Lung adenocarcinoma(14;0.102) TTTAGATCATCACAAACTGTG 0.284000 21 68 0 0 1 0 0 ALDH1B1 219 broad.mit.edu 37 9 38396064 38396064 + Missense_Mutation SNP C C T TCGA-CS-4941-01A-01D-1468-08 TCGA-CS-4941-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 003ed478-ceca-4752-8ae4-4cf12e6844bd 56e3b45b-55fa-4b7e-8998-920c8125aab1 g.chr9:38396064C>T ENST00000377698.3 + 2 472 c.319C>T c.(319-321)Cgc>Tgc p.R107C NM_000692.4 NP_000683.3 P30837 AL1B1_HUMAN aldehyde dehydrogenase 1 family, member B1 107 L -> R (in allele ALDHA1B1*3; dbSNP:rs2073478). carbohydrate metabolic process mitochondrial matrix|nucleus aldehyde dehydrogenase (NAD) activity NS(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(2)|urinary_tract(2) 32 GBM - Glioblastoma multiforme(29;0.043)|Lung(182;0.115) NADH(DB00157) GCTGCTGAACCGCCTGGCAGA 0.632000 39 108 0 0 1 0 0 NBL1 4681 broad.mit.edu 37 1 19981874 19981874 + Silent SNP A A C TCGA-CS-4941-01A-01D-1468-08 TCGA-CS-4941-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 003ed478-ceca-4752-8ae4-4cf12e6844bd 56e3b45b-55fa-4b7e-8998-920c8125aab1 g.chr1:19981874A>C ENST00000375136.3 + 3 531 c.228A>C c.(226-228)acA>acC p.T76T NBL1_ENST00000548815.1_Silent_p.T75T|MINOS1-NBL1_ENST00000602662.1_Silent_p.T76T|NBL1_ENST00000289749.2_Silent_p.T111T NM_001204085.1|NM_001278164.1|NM_001278166.1 NP_001191014.1|NP_001265093.1|NP_001265095.1 P41271 NBL1_HUMAN neuroblastoma 1, DAN family BMP antagonist 75 CTCK. extracellular region lung(2)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 8 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00043)|Ovarian(437;0.00373)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;5.9e-05)|Kidney(64;0.000173)|GBM - Glioblastoma multiforme(114;0.0012)|KIRC - Kidney renal clear cell carcinoma(64;0.0026)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) CACAGTCCACAGAGTCCCTGG 0.622000 28 64 0 0 1 0 0 PLCG1 5335 broad.mit.edu 37 20 39802384 39802384 + Missense_Mutation SNP G G A TCGA-CS-4941-01A-01D-1468-08 TCGA-CS-4941-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 003ed478-ceca-4752-8ae4-4cf12e6844bd 56e3b45b-55fa-4b7e-8998-920c8125aab1 g.chr20:39802384G>A ENST00000373272.2 + 29 3892 c.3487G>A c.(3487-3489)Gag>Aag p.E1163K PLCG1_ENST00000373271.1_Missense_Mutation_p.E1163K|PLCG1_ENST00000461641.1_3'UTR|PLCG1_ENST00000244007.3_Missense_Mutation_p.E1163K NM_002660.2 NP_002651.2 P19174 PLCG1_HUMAN phospholipase C, gamma 1 1163 C2. activation of phospholipase C activity|axon guidance|blood coagulation|cellular response to epidermal growth factor stimulus|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular signal transduction|leukocyte migration|nerve growth factor receptor signaling pathway|phospholipid catabolic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of epithelial cell migration|T cell receptor signaling pathway cytosol|lamellipodium|plasma membrane|ruffle calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|receptor signaling protein activity breast(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(16)|skin(6)|urinary_tract(2) 46 Myeloproliferative disorder(115;0.00878) CGTGGTGTATGAGGAAGACAT 0.517000 OREG0025953 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 54 121 0 0 1 0 0 KIF24 347240 broad.mit.edu 37 9 34259658 34259658 + Missense_Mutation SNP C C A TCGA-CS-4941-01A-01D-1468-08 TCGA-CS-4941-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 003ed478-ceca-4752-8ae4-4cf12e6844bd 56e3b45b-55fa-4b7e-8998-920c8125aab1 g.chr9:34259658C>A ENST00000379166.2 - 10 1680 c.1561G>T c.(1561-1563)Gcc>Tcc p.A521S KIF24_ENST00000402558.2_Missense_Mutation_p.A521S|KIF24_ENST00000345050.2_Missense_Mutation_p.A387S|KIF24_ENST00000379174.3_Missense_Mutation_p.A387S NM_194313.2 NP_919289.2 Q5T7B8 KIF24_HUMAN kinesin family member 24 521 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(13)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 32 LUSC - Lung squamous cell carcinoma(29;0.0107) GAGATGTTGGCGATCATGCAG 0.493000 4 250 1 1 1 1 0 ADAM7 8756 broad.mit.edu 37 8 24350112 24350112 + Splice_Site SNP T T A TCGA-CS-4941-01A-01D-1468-08 TCGA-CS-4941-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 003ed478-ceca-4752-8ae4-4cf12e6844bd 56e3b45b-55fa-4b7e-8998-920c8125aab1 g.chr8:24350112T>A ENST00000175238.6 + 15 1738 c.e15+2 RP11-624C23.1_ENST00000523578.1_RNA|ADAM7_ENST00000520720.1_Splice_Site|RP11-561E1.1_ENST00000519364.1_RNA|ADAM7_ENST00000380789.1_Splice_Site|RP11-624C23.1_ENST00000519689.1_RNA NM_003817.3 NP_003808.2 Q9H2U9 ADAM7_HUMAN ADAM metallopeptidase domain 7 proteolysis integral to membrane metalloendopeptidase activity|zinc ion binding NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15) 64 Prostate(55;0.0181) Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182) TGAGGAGAAGTAAGTGCCCTG 0.373000 22 56 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179465605 179465605 + Missense_Mutation SNP G G A TCGA-CS-4941-01A-01D-1468-08 TCGA-CS-4941-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 003ed478-ceca-4752-8ae4-4cf12e6844bd 56e3b45b-55fa-4b7e-8998-920c8125aab1 g.chr2:179465605G>A ENST00000589042.1 - 288 56250 c.56026C>T c.(56026-56028)Cct>Tct p.P18676S TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P16108S|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P9736S|TTN_ENST00000591111.1_Missense_Mutation_p.P17035S|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P9803S|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.P9611S|TTN-AS1_ENST00000589487.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 17035 Fibronectin type-III 35. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) ACAGTCACAGGGCCAACAGTG 0.448000 36 124 0 0 1 0 0 PEAR1 375033 broad.mit.edu 37 1 156883725 156883725 + Missense_Mutation SNP C C T TCGA-CS-4941-01A-01D-1468-08 TCGA-CS-4941-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 003ed478-ceca-4752-8ae4-4cf12e6844bd 56e3b45b-55fa-4b7e-8998-920c8125aab1 g.chr1:156883725C>T ENST00000338302.3 + 23 3020 c.2795C>T c.(2794-2796)cCc>cTc p.P932L PEAR1_ENST00000292357.7_Missense_Mutation_p.P932L Q5VY43 PEAR1_HUMAN platelet endothelial aggregation receptor 1 932 Pro-rich. integral to membrane breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(6)|lung(22)|ovary(4)|skin(3)|upper_aerodigestive_tract(1) 43 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) CGGGACCTGCCCAGCTTGCCA 0.617000 33 40 0 0 1 0 0 GK2 2712 broad.mit.edu 37 4 80328975 80328975 + Missense_Mutation SNP C C T TCGA-CS-4941-01A-01D-1468-08 TCGA-CS-4941-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 003ed478-ceca-4752-8ae4-4cf12e6844bd 56e3b45b-55fa-4b7e-8998-920c8125aab1 g.chr4:80328975C>T ENST00000358842.3 - 1 397 c.380G>A c.(379-381)aGt>aAt p.S127N NM_033214.2 NP_149991.2 Q14410 GLPK2_HUMAN glycerol kinase 2 127 glycerol-3-phosphate metabolic process mitochondrial outer membrane ATP binding|glycerol kinase activity autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2) 39 AATTTTTTTACTAAGATCCTC 0.428000 58 158 0 0 1 0 0 ACAD8 27034 broad.mit.edu 37 11 134130962 134130962 + Missense_Mutation SNP C C G TCGA-CS-4941-01A-01D-1468-08 TCGA-CS-4941-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 003ed478-ceca-4752-8ae4-4cf12e6844bd 56e3b45b-55fa-4b7e-8998-920c8125aab1 g.chr11:134130962C>G ENST00000281182.4 + 7 836 c.730C>G c.(730-732)Cga>Gga p.R244G ACAD8_ENST00000537423.1_Missense_Mutation_p.R167G|ACAD8_ENST00000543332.1_Missense_Mutation_p.R146G|ACAD8_ENST00000374752.4_Missense_Mutation_p.R117G|ACAD8_ENST00000524547.1_3'UTR NM_014384.2 NP_055199.1 Q9UKU7 ACAD8_HUMAN acyl-CoA dehydrogenase family, member 8 244 branched chain family amino acid catabolic process|lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent mitochondrial matrix acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding p.R244*(1) endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1) 14 all_hematologic(175;0.127) all_cancers(12;8e-23)|all_epithelial(12;2.59e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|all_neural(223;0.0189)|Medulloblastoma(222;0.0245)|Esophageal squamous(93;0.0559) Epithelial(10;1.92e-10)|all cancers(11;2.26e-09)|BRCA - Breast invasive adenocarcinoma(10;8.73e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00154)|Lung(977;0.21) CCAGCCAACACGAGCTGTGAT 0.612000 3 23 0 0 1 0 0 PAPPA2 60676 broad.mit.edu 37 1 176525627 176525627 + Nonsense_Mutation SNP C C T TCGA-CS-4941-01A-01D-1468-08 TCGA-CS-4941-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 003ed478-ceca-4752-8ae4-4cf12e6844bd 56e3b45b-55fa-4b7e-8998-920c8125aab1 g.chr1:176525627C>T ENST00000367662.3 + 2 1333 c.169C>T c.(169-171)Cga>Tga p.R57* PAPPA2_ENST00000367661.3_Nonsense_Mutation_p.R57* NM_020318.2 NP_064714.2 Q9BXP8 PAPP2_HUMAN pappalysin 2 57 cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1) 226 GGCCAAGGTTCGAAGACCCAG 0.567000 113 132 0 0 1 0 0 MT-RNR2 0 broad.mit.edu 37 MT 2098 2098 + RNA SNP G G A TCGA-CS-4941-01A-01D-1468-08 TCGA-CS-4941-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 003ed478-ceca-4752-8ae4-4cf12e6844bd 56e3b45b-55fa-4b7e-8998-920c8125aab1 g.chrM:2098G>A ENST00000387347.2 + 0 428 NR_039705.1 ATTTAACTGTTAGTCCAAAGA 0.398000 4 35 0 0 1 0 0 MTERFD1 51001 broad.mit.edu 37 8 97256197 97256197 + Missense_Mutation SNP C C T TCGA-CS-4941-01A-01D-1468-08 TCGA-CS-4941-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 003ed478-ceca-4752-8ae4-4cf12e6844bd 56e3b45b-55fa-4b7e-8998-920c8125aab1 g.chr8:97256197C>T ENST00000523821.1 - 7 1128 c.1009G>A c.(1009-1011)Gtg>Atg p.V337M MTERFD1_ENST00000524341.1_Intron|MTERFD1_ENST00000522822.1_Missense_Mutation_p.V216M|MTERFD1_ENST00000287025.3_Missense_Mutation_p.V337M Q96E29 MTER1_HUMAN MTERF domain containing 1 337 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent mitochondrion transcription regulatory region DNA binding endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 24 Breast(36;5.16e-05) ACATTGTGCACAAAATCAAAC 0.403000 27 83 0 0 1 0 0 AGTR2 186 broad.mit.edu 37 X 115303726 115303726 + Missense_Mutation SNP G G A TCGA-CS-4941-01A-01D-1468-08 TCGA-CS-4941-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 003ed478-ceca-4752-8ae4-4cf12e6844bd 56e3b45b-55fa-4b7e-8998-920c8125aab1 g.chrX:115303726G>A ENST00000371906.4 + 3 383 c.193G>A c.(193-195)Gtg>Atg p.V65M NM_000686.4 NP_000677.2 P50052 AGTR2_HUMAN angiotensin II receptor, type 2 65 behavior|blood vessel remodeling|brain development|G-protein signaling, coupled to cGMP nucleotide second messenger|intracellular protein kinase cascade|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of heart rate|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of nitric-oxide synthase activity|positive regulation of phosphoprotein phosphatase activity|positive regulation of vasodilation|regulation of systemic arterial blood pressure by circulatory renin-angiotensin angiotensin type II receptor activity|receptor antagonist activity breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|skin(1) 24 CAATATTGTCGTGGTTACACT 0.363000 5 141 0 0 1 0 0 MT-ND4 4538 broad.mit.edu 37 MT 11711 11711 + Missense_Mutation SNP G G A TCGA-CS-4941-01A-01D-1468-08 TCGA-CS-4941-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 003ed478-ceca-4752-8ae4-4cf12e6844bd 56e3b45b-55fa-4b7e-8998-920c8125aab1 g.chrM:11711G>A ENST00000361381.2 + 1 952 c.952G>A c.(952-954)Gcc>Acc p.318_318insT mitochondrially encoded NADH dehydrogenase 4 breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|prostate(1) 13 TTCTCATAATCGCCCACGGAC 0.483000 5 27 0 0 1 0 0 SERPINB7 8710 broad.mit.edu 37 18 61449736 61449736 + Missense_Mutation SNP T T A TCGA-CS-4941-01A-01D-1468-08 TCGA-CS-4941-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 003ed478-ceca-4752-8ae4-4cf12e6844bd 56e3b45b-55fa-4b7e-8998-920c8125aab1 g.chr18:61449736T>A ENST00000398019.2 + 2 455 c.130T>A c.(130-132)Ttg>Atg p.L44M SERPINB7_ENST00000540675.1_Missense_Mutation_p.L44M|SERPINB7_ENST00000546027.1_Missense_Mutation_p.L44M|SERPINB7_ENST00000336429.2_Missense_Mutation_p.L44M NM_003784.3 NP_003775.1 O75635 SPB7_HUMAN serpin peptidase inhibitor, clade B (ovalbumin), member 7 44 regulation of proteolysis cytoplasm serine-type endopeptidase inhibitor activity central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(3) 27 Esophageal squamous(42;0.129) CCTGGTCCGCTTGGGCGCTCA 0.473000 38 94 0 0 1 0 0 ERI3 79033 broad.mit.edu 37 1 44804751 44804751 + Missense_Mutation SNP T T G TCGA-CS-4941-01A-01D-1468-08 TCGA-CS-4941-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 003ed478-ceca-4752-8ae4-4cf12e6844bd 56e3b45b-55fa-4b7e-8998-920c8125aab1 g.chr1:44804751T>G ENST00000372257.2 - 3 636 c.455A>C c.(454-456)gAg>gCg p.E152A ERI3_ENST00000495828.1_5'UTR|ERI3_ENST00000537474.1_Intron NM_024066.1 NP_076971.1 O43414 ERI3_HUMAN ERI1 exoribonuclease family member 3 152 Exonuclease. intracellular exonuclease activity|metal ion binding|nucleic acid binding endometrium(2)|large_intestine(2)|lung(7)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 GCACGTGGCCTCAAAGTCCAG 0.547000 145 229 0 0 1 0 0 LCT 3938 broad.mit.edu 37 2 136567270 136567270 + Missense_Mutation SNP C C T TCGA-CS-4941-01A-01D-1468-08 TCGA-CS-4941-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 003ed478-ceca-4752-8ae4-4cf12e6844bd 56e3b45b-55fa-4b7e-8998-920c8125aab1 g.chr2:136567270C>T ENST00000264162.2 - 8 2657 c.2647G>A c.(2647-2649)Gtt>Att p.V883I NM_002299.2 NP_002290.2 P09848 LPH_HUMAN lactase 883 4 X approximate repeats. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|integral to plasma membrane|membrane fraction cation binding|glycosylceramidase activity|lactase activity breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4) 124 BRCA - Breast invasive adenocarcinoma(221;0.169) TTTTCCCAAACGACTTTAGCC 0.502000 46 131 0 0 1 0 0 PKD1 5310 broad.mit.edu 37 16 2164291 2164291 + Silent SNP C C A rs4018173 TCGA-CS-4941-01A-01D-1468-08 TCGA-CS-4941-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 003ed478-ceca-4752-8ae4-4cf12e6844bd 56e3b45b-55fa-4b7e-8998-920c8125aab1 g.chr16:2164291C>A ENST00000262304.4 - 11 2941 c.2733G>T c.(2731-2733)gtG>gtT p.V911V PKD1_ENST00000423118.1_Silent_p.V911V NM_001009944.2 NP_001009944.2 P98161 PKD1_HUMAN polycystic kidney disease 1 (autosomal dominant) 911 PKD 3. calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway basolateral plasma membrane|integral to plasma membrane protein domain specific binding|sugar binding breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3) 72 TTTCCACCACCACGTCCACCA 0.697000 4 36 0.00198382 0.00217975 1 1 0 FGA 2243 broad.mit.edu 37 4 155505774 155505774 + Silent SNP G G A rs148411201 TCGA-CS-4941-01A-01D-1468-08 TCGA-CS-4941-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 003ed478-ceca-4752-8ae4-4cf12e6844bd 56e3b45b-55fa-4b7e-8998-920c8125aab1 g.chr4:155505774G>A ENST00000302053.3 - 6 2181 c.2103C>T c.(2101-2103)gaC>gaT p.D701D NM_000508.3 NP_000499.1 P02671 FIBA_HUMAN fibrinogen alpha chain 701 Fibrinogen C-terminal. platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen eukaryotic cell surface binding|protein binding, bridging|receptor binding p.D701D(1) NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6) 73 all_hematologic(180;0.215) Renal(120;0.0458) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031) CTTCCCCCTCGTCATTCAGGC 0.493000 4 139 0 0 1 0 0 DDX3X 1654 broad.mit.edu 37 X 41204458 41204458 + Missense_Mutation SNP C C T TCGA-CS-4941-01A-01D-1468-08 TCGA-CS-4941-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 003ed478-ceca-4752-8ae4-4cf12e6844bd 56e3b45b-55fa-4b7e-8998-920c8125aab1 g.chrX:41204458C>T ENST00000399959.2 + 11 1906 c.1051C>T c.(1051-1053)Cgg>Tgg p.R351W DDX3X_ENST00000457138.2_Missense_Mutation_p.R335W|DDX3X_ENST00000542215.1_3'UTR|DDX3X_ENST00000478993.1_3'UTR|DDX3X_ENST00000441189.2_Intron NM_001193416.1|NM_001193417.1|NM_001356.3 NP_001180345.1|NP_001180346.1|NP_001347.3 O00571 DDX3X_HUMAN DEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linked 351 Helicase ATP-binding.|Necessary for interaction with XPO1. interspecies interaction between organisms cytoplasm|nuclear speck ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding|RNA binding NS(3)|breast(8)|central_nervous_system(36)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1) 84 TGAAGCTGATCGGATGTTGGA 0.408000 HNSCC(61;0.18) 60 49 0 0 1 0 0 PLA2G4F 255189 broad.mit.edu 37 15 42434838 42434838 + Silent SNP G G A TCGA-CS-4941-01A-01D-1468-08 TCGA-CS-4941-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 003ed478-ceca-4752-8ae4-4cf12e6844bd 56e3b45b-55fa-4b7e-8998-920c8125aab1 g.chr15:42434838G>A ENST00000397272.3 - 19 2314 c.2223C>T c.(2221-2223)gaC>gaT p.D741D PLA2G4F_ENST00000382396.4_Silent_p.D739D NM_213600.3 NP_998765.3 Q68DD2 PA24F_HUMAN phospholipase A2, group IVF 739 PLA2c. phospholipid catabolic process cytosol|lysosomal membrane metal ion binding|phospholipase A2 activity breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 32 all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091) GBM - Glioblastoma multiforme(94;8.97e-07) CCTCCTCCATGTCCTCAGGGC 0.592000 26 69 0 0 1 0 0 CAMK2D 817 broad.mit.edu 37 4 114680566 114680566 + Missense_Mutation SNP C C T TCGA-CS-4941-01A-01D-1468-08 TCGA-CS-4941-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 003ed478-ceca-4752-8ae4-4cf12e6844bd 56e3b45b-55fa-4b7e-8998-920c8125aab1 g.chr4:114680566C>T ENST00000454265.2 - 2 928 c.70G>A c.(70-72)Gca>Aca p.A24T CAMK2D_ENST00000394522.3_Missense_Mutation_p.A24T|CAMK2D_ENST00000515496.1_Missense_Mutation_p.A24T|CAMK2D_ENST00000379773.2_Missense_Mutation_p.A24T|CAMK2D_ENST00000418639.2_Missense_Mutation_p.A24T|CAMK2D_ENST00000429180.1_Missense_Mutation_p.A24T|CAMK2D_ENST00000394526.2_Missense_Mutation_p.A24T|CAMK2D_ENST00000296402.5_Missense_Mutation_p.A24T|CAMK2D_ENST00000511664.1_Missense_Mutation_p.A24T|CAMK2D_ENST00000514328.1_Missense_Mutation_p.A24T|CAMK2D_ENST00000342666.5_Missense_Mutation_p.A24T|CAMK2D_ENST00000509907.1_5'UTR|CAMK2D_ENST00000505990.1_Missense_Mutation_p.A24T|CAMK2D_ENST00000508738.1_Missense_Mutation_p.A24T|CAMK2D_ENST00000394524.3_Missense_Mutation_p.A24T Q13557 KCC2D_HUMAN calcium/calmodulin-dependent protein kinase II delta 24 Protein kinase. interferon-gamma-mediated signaling pathway|regulation of cell growth|synaptic transmission calcium- and calmodulin-dependent protein kinase complex|cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1) 13 Ovarian(17;0.00369)|Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.000271) ACTGAGAATGCCCCCCTGGAA 0.323000 4 151 0 0 1 0 0 ANKRD34A 284615 broad.mit.edu 37 1 145473827 145473827 + Missense_Mutation SNP G G A TCGA-CS-4941-01A-01D-1468-08 TCGA-CS-4941-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 003ed478-ceca-4752-8ae4-4cf12e6844bd 56e3b45b-55fa-4b7e-8998-920c8125aab1 g.chr1:145473827G>A ENST00000323397.4 + 4 1792 c.499G>A c.(499-501)Ggg>Agg p.G167R NM_001039888.2 NP_001034977.1 Q69YU3 AN34A_HUMAN ankyrin repeat domain 34A 167 endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|upper_aerodigestive_tract(1) 20 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) ACCATCCCCAGGGGTGGAGGA 0.617000 23 94 0 0 1 0 0 IKBKE 0 broad.mit.edu 37 1 206647731 206647731 + Missense_Mutation SNP C C T rs143140330 TCGA-CS-4941-01A-01D-1468-08 TCGA-CS-4941-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 003ed478-ceca-4752-8ae4-4cf12e6844bd 56e3b45b-55fa-4b7e-8998-920c8125aab1 g.chr1:206647731C>T ENST00000367120.3 + 4 518 c.145C>T c.(145-147)Cgc>Tgc p.R49C IKBKE_ENST00000462698.1_Intron|IKBKE_ENST00000537984.1_5'UTR NM_001193322.1|NM_014002.3 NP_001180251.1|NP_054721.1 Q14164 IKKE_HUMAN inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase epsilon 49 Protein kinase. DNA damage response, signal transduction resulting in induction of apoptosis|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|endosome membrane|plasma membrane|PML body ATP binding|IkappaB kinase activity|NF-kappaB-inducing kinase activity|protein binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|skin(2) 32 Breast(84;0.137) CCTGCGGCCCCGCGAGGTGCA 0.582000 23 31 0 0 1 0 0 RRN3P2 0 broad.mit.edu 37 16 29110458 29110458 + RNA SNP T T C rs151074589 by1000genomes TCGA-CS-4941-01A-01D-1468-08 TCGA-CS-4941-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 003ed478-ceca-4752-8ae4-4cf12e6844bd 56e3b45b-55fa-4b7e-8998-920c8125aab1 g.chr16:29110458T>C ENST00000564580.1 + 0 1131 p.W375R(25) GAATTTTGAGTGGATAGTGAT 0.328000 3 81 0 0 1 0 0 CCHCR1 54535 broad.mit.edu 37 6 31125375 31125375 + Translation_Start_Site SNP C C T TCGA-CS-4941-01A-01D-1468-08 TCGA-CS-4941-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 003ed478-ceca-4752-8ae4-4cf12e6844bd 56e3b45b-55fa-4b7e-8998-920c8125aab1 g.chr6:31125375C>T ENST00000396268.3 - 1 191 c.3G>A c.(1-3)atG>atA p.M1I CCHCR1_ENST00000396263.2_Intron|CCHCR1_ENST00000480060.1_Intron|CCHCR1_ENST00000376266.5_Intron|CCHCR1_ENST00000451521.2_Start_Codon_SNP_p.M1I NM_001105563.1|NM_001105564.1 NP_001099033.1|NP_001099034.1 Q8TD31 CCHCR_HUMAN coiled-coil alpha-helical rod protein 1 0 cell differentiation|multicellular organismal development cytoplasm|nucleus protein binding breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(13)|skin(1) 23 AATGTGGCCACATGCAGGGCT 0.587000 6 16 0 0 1 0 0 EFEMP2 30008 broad.mit.edu 37 11 65638766 65638766 + Missense_Mutation SNP C C T TCGA-CS-4941-01A-01D-1468-08 TCGA-CS-4941-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 003ed478-ceca-4752-8ae4-4cf12e6844bd 56e3b45b-55fa-4b7e-8998-920c8125aab1 g.chr11:65638766C>T ENST00000307998.6 - 4 459 c.229G>A c.(229-231)Ggc>Agc p.G77S EFEMP2_ENST00000528176.1_Missense_Mutation_p.G77S NM_016938.4 NP_058634.4 O95967 FBLN4_HUMAN EGF containing fibulin-like extracellular matrix protein 2 77 EGF-like 1; atypical. blood coagulation basement membrane|membrane calcium ion binding|extracellular matrix structural constituent|protein binding|transmembrane receptor activity cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 21 READ - Rectum adenocarcinoma(159;0.169) CACAAGTAGCCCCCGTAGTGG 0.647000 36 138 0 0 1 0 0 CDH9 1007 broad.mit.edu 37 5 26881407 26881407 + Silent SNP T T G TCGA-CS-4941-01A-01D-1468-08 TCGA-CS-4941-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 003ed478-ceca-4752-8ae4-4cf12e6844bd 56e3b45b-55fa-4b7e-8998-920c8125aab1 g.chr5:26881407T>G ENST00000231021.4 - 12 2380 c.2208A>C c.(2206-2208)gcA>gcC p.A736A NM_016279.3 NP_057363.3 Q9ULB4 CADH9_HUMAN cadherin 9, type 2 (T1-cadherin) 736 adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 137 AGGCATACGTTGCCAGCGAAT 0.418000 63 126 0 0 1 0 0 ADAM7 8756 broad.mit.edu 37 8 24350563 24350563 + Nonsense_Mutation SNP A A T TCGA-CS-4941-01A-01D-1468-08 TCGA-CS-4941-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 003ed478-ceca-4752-8ae4-4cf12e6844bd 56e3b45b-55fa-4b7e-8998-920c8125aab1 g.chr8:24350563A>T ENST00000175238.6 + 16 1746 c.1663A>T c.(1663-1665)Aga>Tga p.R555* RP11-624C23.1_ENST00000523578.1_RNA|ADAM7_ENST00000520720.1_Nonsense_Mutation_p.R327*|RP11-561E1.1_ENST00000519364.1_RNA|ADAM7_ENST00000380789.1_Nonsense_Mutation_p.R555*|RP11-624C23.1_ENST00000519689.1_RNA NM_003817.3 NP_003808.2 Q9H2U9 ADAM7_HUMAN ADAM metallopeptidase domain 7 555 Cys-rich. proteolysis integral to membrane metalloendopeptidase activity|zinc ion binding NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15) 64 Prostate(55;0.0181) Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182) CAGAGATGTCAGATGTGGAAA 0.448000 12 62 0 0 1 0 0 ARHGAP26 23092 broad.mit.edu 37 5 142526856 142526856 + Missense_Mutation SNP G G A TCGA-CS-4941-01A-01D-1468-08 TCGA-CS-4941-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 003ed478-ceca-4752-8ae4-4cf12e6844bd 56e3b45b-55fa-4b7e-8998-920c8125aab1 g.chr5:142526856G>A ENST00000378004.3 + 20 2253 c.1898G>A c.(1897-1899)aGc>aAc p.S633N ARHGAP26_ENST00000274498.4_Missense_Mutation_p.S633N NM_001135608.1 NP_001129080.1 Q9UNA1 RHG26_HUMAN Rho GTPase activating protein 26 633 Ser-rich. actin cytoskeleton organization|filopodium assembly|nervous system development|small GTPase mediated signal transduction cytoskeleton|cytosol|focal adhesion cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(7)|ovary(1) 25 all_hematologic(541;0.0416) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) AATCCAAACAGCATCCTTAAT 0.473000 45 109 0 0 1 0 0 ABCG1 9619 broad.mit.edu 37 21 43708163 43708163 + Nonsense_Mutation SNP C C T TCGA-CS-4941-01A-01D-1468-08 TCGA-CS-4941-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 003ed478-ceca-4752-8ae4-4cf12e6844bd 56e3b45b-55fa-4b7e-8998-920c8125aab1 g.chr21:43708163C>T ENST00000398437.1 + 10 1724 c.1576C>T c.(1576-1578)Cga>Tga p.R526* ABCG1_ENST00000340588.4_Nonsense_Mutation_p.R488*|ABCG1_ENST00000398449.3_Intron|ABCG1_ENST00000398457.2_Intron|ABCG1_ENST00000343687.3_Intron|ABCG1_ENST00000361802.2_Nonsense_Mutation_p.R380*|ABCG1_ENST00000462050.1_Intron|ABCG1_ENST00000347800.2_Intron P45844 ABCG1_HUMAN ATP-binding cassette, sub-family G (WHITE), member 1 380 ABC transmembrane type-2. amyloid precursor protein catabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|detection of hormone stimulus|high-density lipoprotein particle remodeling|intracellular cholesterol transport|lipoprotein metabolic process|low-density lipoprotein particle remodeling|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|positive regulation of cholesterol biosynthetic process|regulation of cholesterol esterification|regulation of transcription, DNA-dependent|response to lipid|reverse cholesterol transport endoplasmic reticulum membrane|external side of plasma membrane|Golgi membrane|recycling endosome ADP binding|ATP binding|cholesterol transporter activity|glycoprotein transporter activity|phospholipid transporter activity|protein heterodimerization activity|protein homodimerization activity|sterol-transporting ATPase activity|toxin transporter activity breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(3)|prostate(2)|stomach(1) 29 Adenosine triphosphate(DB00171) GCAGACAAAACGATTAAAGGG 0.562000 22 181 0 0 1 0 0 CCKBR 887 broad.mit.edu 37 11 6292257 6292257 + Silent SNP C C T TCGA-CS-4941-01A-01D-1468-08 TCGA-CS-4941-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 003ed478-ceca-4752-8ae4-4cf12e6844bd 56e3b45b-55fa-4b7e-8998-920c8125aab1 g.chr11:6292257C>T ENST00000525462.1 + 4 1038 c.1035C>T c.(1033-1035)aaC>aaT p.N345N CCKBR_ENST00000334619.2_Silent_p.N276N|CCKBR_ENST00000532715.1_Silent_p.N192N|CCKBR_ENST00000532396.1_3'UTR P32239 GASR_HUMAN cholecystokinin B receptor 276 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cell proliferation|digestion|elevation of cytosolic calcium ion concentration|feeding behavior|positive regulation of cell proliferation|sensory perception 1-phosphatidylinositol-3-kinase regulator activity|gastrin receptor activity|phosphatidylinositol phospholipase C activity|type B gastrin/cholecystokinin receptor binding NS(2)|breast(2)|endometrium(4)|kidney(13)|large_intestine(10)|lung(22)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 61 Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029) Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139) Pentagastrin(DB00183) TTCACCAGAACGGGCGTTGCC 0.662000 4 104 0 0 1 0 0 MYH4 4622 broad.mit.edu 37 17 10368890 10368890 + Missense_Mutation SNP G G C TCGA-CS-4941-01A-01D-1468-08 TCGA-CS-4941-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 003ed478-ceca-4752-8ae4-4cf12e6844bd 56e3b45b-55fa-4b7e-8998-920c8125aab1 g.chr17:10368890G>C ENST00000255381.2 - 5 484 c.374C>G c.(373-375)aCc>aGc p.T125S CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA NM_017533.2 NP_060003.2 Q9Y623 MYH4_HUMAN myosin, heavy chain 4, skeletal muscle 125 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(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 149 GGGGTTGACGGTGACACAGAA 0.542000 3 179 0 0 1 0 0 KRTAP9-3 83900 broad.mit.edu 37 17 39388981 39388981 + Silent SNP T T C rs143261478 byFrequency TCGA-CS-4941-01A-01D-1468-08 TCGA-CS-4941-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 003ed478-ceca-4752-8ae4-4cf12e6844bd 56e3b45b-55fa-4b7e-8998-920c8125aab1 g.chr17:39388981T>C ENST00000411528.2 + 1 267 c.228T>C c.(226-228)tgT>tgC p.C76C NM_031962.2 NP_114168.1 Q9BYQ3 KRA93_HUMAN keratin associated protein 9-3 76 16 X 5 AA repeats of C-C-[RQVSHE]-[SPTN]- [TASPI]. keratin filament protein binding p.C76C(2) breast(1)|endometrium(3)|lung(2)|ovary(1)|prostate(1) 8 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000397) CTTCCTGCTGTAGCACACCCT 0.602000 3 37 0 0 1 0 0 CD82 3732 broad.mit.edu 37 11 44640201 44640201 + Silent SNP G G A TCGA-CS-4941-01A-01D-1468-08 TCGA-CS-4941-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 003ed478-ceca-4752-8ae4-4cf12e6844bd 56e3b45b-55fa-4b7e-8998-920c8125aab1 g.chr11:44640201G>A ENST00000227155.4 + 9 902 c.654G>A c.(652-654)gaG>gaA p.E218E CD82_ENST00000342935.3_Silent_p.E193E|CD82_ENST00000530931.1_3'UTR NM_002231.3 NP_002222.1 P27701 CD82_HUMAN CD82 molecule 218 integral to plasma membrane protein binding large_intestine(1)|ovary(1) 2 GCTGCATGGAGAAGGTGCAGG 0.667000 20 70 0 0 1 0 0 DNHD1 144132 broad.mit.edu 37 11 6588423 6588423 + Missense_Mutation SNP G G A TCGA-CS-4941-01A-01D-1468-08 TCGA-CS-4941-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 003ed478-ceca-4752-8ae4-4cf12e6844bd 56e3b45b-55fa-4b7e-8998-920c8125aab1 g.chr11:6588423G>A ENST00000254579.6 + 36 12248 c.11684G>A c.(11683-11685)cGt>cAt p.R3895H DNHD1_ENST00000527990.2_Missense_Mutation_p.R3895H NM_144666.2 NP_653267.2 Q96M86 DNHD1_HUMAN dynein heavy chain domain 1 3895 microtubule-based movement dynein complex microtubule motor activity NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 55 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171) Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13) ATGAAGCCACGTGAGATTAAT 0.577000 46 116 0 0 1 0 0 CDK5RAP2 55755 broad.mit.edu 37 9 123152041 123152041 + Missense_Mutation SNP C C T TCGA-CS-4941-01A-01D-1468-08 TCGA-CS-4941-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 003ed478-ceca-4752-8ae4-4cf12e6844bd 56e3b45b-55fa-4b7e-8998-920c8125aab1 g.chr9:123152041C>T ENST00000349780.4 - 37 5782 c.5603G>A c.(5602-5604)cGg>cAg p.R1868Q CDK5RAP2_ENST00000480467.1_5'UTR|CDK5RAP2_ENST00000360190.4_Missense_Mutation_p.R1789Q|CDK5RAP2_ENST00000359309.3_Missense_Mutation_p.R1827Q|CDK5RAP2_ENST00000360822.3_Missense_Mutation_p.R1836Q NM_018249.4 NP_060719.4 Q96SN8 CK5P2_HUMAN CDK5 regulatory subunit associated protein 2 1868 Interaction with PCNT and AKAP9.|Required for centrosomal attachment, Golgi localization and CALM1 interaction. brain development|centrosome organization|chromosome segregation|G2/M transition of mitotic cell cycle|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint cytosol|Golgi apparatus|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1) 58 TCTGGCCTTCCGAAGGATTTT 0.517000 6 61 0 0 1 0 0 ANKRD44 91526 broad.mit.edu 37 2 197943464 197943464 + Missense_Mutation SNP T T G TCGA-CS-4941-01A-01D-1468-08 TCGA-CS-4941-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 003ed478-ceca-4752-8ae4-4cf12e6844bd 56e3b45b-55fa-4b7e-8998-920c8125aab1 g.chr2:197943464T>G ENST00000328737.2 - 16 1614 c.1538A>C c.(1537-1539)tAt>tCt p.Y513S ANKRD44_ENST00000539527.1_Missense_Mutation_p.Y466S|ANKRD44_ENST00000282272.8_Missense_Mutation_p.Y530S|ANKRD44_ENST00000337207.5_Missense_Mutation_p.Y513S|ANKRD44_ENST00000409153.1_Missense_Mutation_p.Y538S|ANKRD44_ENST00000450567.1_Missense_Mutation_p.Y513S Q8N8A2 ANR44_HUMAN ankyrin repeat domain 44 538 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) GGCGGCAGCATAATGTATGCT 0.413000 11 37 0 0 1 0 0 EGFLAM 133584 broad.mit.edu 37 5 38427311 38427311 + Missense_Mutation SNP G G A rs147520523 byFrequency TCGA-CS-4941-01A-01D-1468-08 TCGA-CS-4941-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 003ed478-ceca-4752-8ae4-4cf12e6844bd 56e3b45b-55fa-4b7e-8998-920c8125aab1 g.chr5:38427311G>A ENST00000322350.5 + 14 2357 c.2011G>A c.(2011-2013)Gtg>Atg p.V671M EGFLAM-AS1_ENST00000508986.1_RNA|EGFLAM_ENST00000397202.2_Missense_Mutation_p.V37M|EGFLAM_ENST00000354891.3_Missense_Mutation_p.V671M|EGFLAM_ENST00000336740.6_Missense_Mutation_p.V437M NM_152403.3 NP_689616.2 Q63HQ2 EGFLA_HUMAN EGF-like, fibronectin type III and laminin G domains 671 Laminin G-like 2. cell junction|proteinaceous extracellular matrix|synapse NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 85 all_lung(31;0.000385) AGGGGGCCACGTGGAGTTCCG 0.522000 6 222 0 0 1 0 0 DNAH11 8701 broad.mit.edu 37 7 21742356 21742356 + Missense_Mutation SNP T T C TCGA-CS-4941-01A-01D-1468-08 TCGA-CS-4941-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 003ed478-ceca-4752-8ae4-4cf12e6844bd 56e3b45b-55fa-4b7e-8998-920c8125aab1 g.chr7:21742356T>C ENST00000328843.6 + 38 6261 c.6230T>C c.(6229-6231)aTt>aCt p.I2077T DNAH11_ENST00000409508.3_Missense_Mutation_p.I2070T Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 2077 AAA 1 (By similarity). microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 230 CTTCGTGCTATTAAGTCTGTC 0.388000 Kartagener syndrome 10 39 0 0 1 0 0 RPGRIP1L 23322 broad.mit.edu 37 16 53679916 53679916 + Splice_Site SNP C C T TCGA-CS-4941-01A-01D-1468-08 TCGA-CS-4941-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 003ed478-ceca-4752-8ae4-4cf12e6844bd 56e3b45b-55fa-4b7e-8998-920c8125aab1 g.chr16:53679916C>T ENST00000262135.4 - 17 2398 c.e17-1 RPGRIP1L_ENST00000564374.1_Splice_Site|RPGRIP1L_ENST00000379925.3_Splice_Site|RPGRIP1L_ENST00000563746.1_Splice_Site NM_001127897.1 NP_001121369.1 Q68CZ1 FTM_HUMAN RPGRIP1-like negative regulation of G-protein coupled receptor protein signaling pathway cell-cell junction|centrosome|cilium axoneme|microtubule basal body thromboxane A2 receptor binding endometrium(6)|kidney(3)|large_intestine(9)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(2) 46 all_cancers(37;0.0973) GCTGACTTAACTGGAAAAACA 0.358000 21 47 0 0 1 0 0 POLR2A 5430 broad.mit.edu 37 17 7414879 7414879 + Missense_Mutation SNP C C T TCGA-CS-4941-01A-01D-1468-08 TCGA-CS-4941-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 003ed478-ceca-4752-8ae4-4cf12e6844bd 56e3b45b-55fa-4b7e-8998-920c8125aab1 g.chr17:7414879C>T ENST00000322644.6 + 24 4472 c.4073C>T c.(4072-4074)aCg>aTg p.T1358M NM_000937.4 NP_000928.1 P24928 RPB1_HUMAN polymerase (RNA) II (DNA directed) polypeptide A, 220kDa 1358 mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction DNA-directed RNA polymerase II, core complex DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 50 Prostate(122;0.173) GTACGCACCACGTCCAATGAC 0.597000 8 29 0 0 1 0 0 RGAG1 57529 broad.mit.edu 37 X 109695334 109695334 + Missense_Mutation SNP A A T TCGA-CS-4941-01A-01D-1468-08 TCGA-CS-4941-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 003ed478-ceca-4752-8ae4-4cf12e6844bd 56e3b45b-55fa-4b7e-8998-920c8125aab1 g.chrX:109695334A>T ENST00000465301.2 + 3 1735 c.1489A>T c.(1489-1491)Atg>Ttg p.M497L RGAG1_ENST00000540313.1_Missense_Mutation_p.M497L NM_020769.2 NP_065820.1 Q8NET4 RGAG1_HUMAN retrotransposon gag domain containing 1 497 NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 73 CTCTGGAAAGATGTCCACGCC 0.507000 66 62 0 0 1 0 0 ADAMTSL1 92949 broad.mit.edu 37 9 18777565 18777565 + Missense_Mutation SNP T T A TCGA-CS-4941-01A-01D-1468-08 TCGA-CS-4941-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 003ed478-ceca-4752-8ae4-4cf12e6844bd 56e3b45b-55fa-4b7e-8998-920c8125aab1 g.chr9:18777565T>A ENST00000380548.4 + 19 3677 c.3338T>A c.(3337-3339)cTg>cAg p.L1113Q NM_001040272.5 NP_001035362.3 Q8N6G6 ATL1_HUMAN ADAMTS-like 1 1113 proteinaceous extracellular matrix metallopeptidase activity|zinc ion binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 42 GBM - Glioblastoma multiforme(50;1.29e-17) CGCAGCCACCTGGAGCACCAG 0.647000 5 13 0 0 1 0 0 CROCCP2 0 broad.mit.edu 37 1 16960908 16960913 + RNA DEL GTGTGC GTGTGC - rs71703041 by1000genomes TCGA-CS-4941-01A-01D-1468-08 TCGA-CS-4941-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 003ed478-ceca-4752-8ae4-4cf12e6844bd 56e3b45b-55fa-4b7e-8998-920c8125aab1 g.chr1:16960908_16960913delGTGTGC ENST00000412962.1 - 0 16 gtgtgtgtgtgtgtgcgcgtgtgtgA 0.437 4 2 --- --- --- --- HLA-DRB6 0 broad.mit.edu 37 6 32521545 32521546 + RNA INS - - AAGG rs144810212 by1000genomes TCGA-CS-4941-01A-01D-1468-08 TCGA-CS-4941-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 003ed478-ceca-4752-8ae4-4cf12e6844bd 56e3b45b-55fa-4b7e-8998-920c8125aab1 g.chr6:32521545_32521546insAAGG ENST00000411500.1 - 0 851 NR_001298.1 TTGGGGAAAGACTTTATCCAGG 0.436 3 3 --- --- --- --- HLA-DRB6 0 broad.mit.edu 37 6 32521843 32521844 + RNA DEL CT CT - rs67101368 TCGA-CS-4941-01A-01D-1468-08 TCGA-CS-4941-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 003ed478-ceca-4752-8ae4-4cf12e6844bd 56e3b45b-55fa-4b7e-8998-920c8125aab1 g.chr6:32521843_32521844delCT ENST00000411500.1 - 0 740 NR_001298.1 AGAAGGCTACCTCCTGTAAGAA 0.356 3 3 --- --- --- --- MRVI1-AS1 0 broad.mit.edu 37 11 10578247 10578248 + RNA INS - - CCTT rs71034772 byFrequency TCGA-CS-4941-01A-01D-1468-08 TCGA-CS-4941-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 003ed478-ceca-4752-8ae4-4cf12e6844bd 56e3b45b-55fa-4b7e-8998-920c8125aab1 g.chr11:10578247_10578248insCCTT ENST00000529979.1 + 0 246 MRVI1-AS1_ENST00000529829.1_RNA NR_046374.1 AGCCAGCCCACccttccttcct 0.411 2 4 --- --- --- --- DAOA-AS1 0 broad.mit.edu 37 13 106148111 106148114 + RNA DEL CTTC CTTC - TCGA-CS-4941-01A-01D-1468-08 TCGA-CS-4941-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 003ed478-ceca-4752-8ae4-4cf12e6844bd 56e3b45b-55fa-4b7e-8998-920c8125aab1 g.chr13:106148111_106148114delCTTC ENST00000448407.1 - 0 100 NR_040247.1 GGATCTTTCTcttccttccttcct 0.353 3 5 --- --- --- --- DNM1P47 0 broad.mit.edu 37 15 102299886 102299887 + RNA INS - - G TCGA-CS-4941-01A-01D-1468-08 TCGA-CS-4941-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 003ed478-ceca-4752-8ae4-4cf12e6844bd 56e3b45b-55fa-4b7e-8998-920c8125aab1 g.chr15:102299886_102299887insG ENST00000561463.1 + 0 7932_7933 AACCTGTACTCGCGTCGGAACC 0.589 3 5 --- --- --- --- PGAP3 93210 broad.mit.edu 37 17 37844245 37844245 + Frame_Shift_Del DEL A A - TCGA-CS-4941-01A-01D-1468-08 TCGA-CS-4941-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 003ed478-ceca-4752-8ae4-4cf12e6844bd 56e3b45b-55fa-4b7e-8998-920c8125aab1 g.chr17:37844245delA ENST00000300658.4 - 1 115 c.23delT c.(22-24)tgfs p.L8fs PGAP3_ENST00000579146.1_Frame_Shift_Del_p.L8fs|ERBB2_ENST00000584601.1_5'UTR|PGAP3_ENST00000429199.2_Frame_Shift_Del_p.L8fs|PGAP3_ENST00000378011.4_Frame_Shift_Del_p.L8fs NM_033419.3 NP_219487.3 Q96FM1 PGAP3_HUMAN post-GPI attachment to proteins 3 8 GPI anchor biosynthetic process Golgi membrane|integral to membrane|intrinsic to endoplasmic reticulum membrane hydrolase activity, acting on ester bonds breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 12 TAGCAGGACCAACCGCGCCGC 0.672 2 4 --- --- --- ---