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 RBP3 5949 broad.mit.edu 37 10 48390723 48390723 + Missense_Mutation SNP A A G TCGA-HT-7603-01A-21D-2086-08 TCGA-HT-7603-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75dc5918-1fa5-4dba-bb41-e8057e228931 09b29d7c-9b2a-4808-9b8d-1fd650cc4fad g.chr10:48390723A>G ENST00000224600.4 - 1 268 c.155T>C c.(154-156)aTc>aCc p.I52T NM_002900.2 NP_002891.1 P10745 RET3_HUMAN retinol binding protein 3, interstitial 52 4 X approximate tandem repeats. lipid metabolic process|proteolysis|transport|visual perception interphotoreceptor matrix retinal binding|serine-type peptidase activity central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 59 Vitamin A(DB00162) GGCCTGCTGGATGGCTTCCTG 0.597000 9 37 0 0 1 0 0 DAGLA 747 broad.mit.edu 37 11 61504739 61504739 + Missense_Mutation SNP G G A TCGA-HT-7603-01A-21D-2086-08 TCGA-HT-7603-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75dc5918-1fa5-4dba-bb41-e8057e228931 09b29d7c-9b2a-4808-9b8d-1fd650cc4fad g.chr11:61504739G>A ENST00000257215.5 + 14 1573 c.1457G>A c.(1456-1458)cGc>cAc p.R486H NM_006133.2 NP_006124.1 Q9Y4D2 DGLA_HUMAN diacylglycerol lipase, alpha 486 cell death|lipid catabolic process|platelet activation integral to membrane|plasma membrane acylglycerol lipase activity|metal ion binding|triglyceride lipase activity p.R486H(1) breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4) 43 READ - Rectum adenocarcinoma(4;0.219) TTCCTTCTGCGCCCACAGTAT 0.647000 16 253 0 0 1 0 0 RCBTB2 1102 broad.mit.edu 37 13 49070412 49070412 + Missense_Mutation SNP T T C TCGA-HT-7603-01A-21D-2086-08 TCGA-HT-7603-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75dc5918-1fa5-4dba-bb41-e8057e228931 09b29d7c-9b2a-4808-9b8d-1fd650cc4fad g.chr13:49070412T>C ENST00000344532.3 - 14 1853 c.1430A>G c.(1429-1431)aAg>aGg p.K477R RCBTB2_ENST00000544492.1_Missense_Mutation_p.K203R|RCBTB2_ENST00000430805.2_Missense_Mutation_p.K482R NM_001268.2 NP_001259.1 O95199 RCBT2_HUMAN regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 2 477 Ran guanyl-nucleotide exchange factor activity breast(5)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(3) 31 all_cancers(8;4.86e-71)|all_epithelial(8;2.11e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;2.3e-10)|Lung NSC(96;1.07e-07)|Breast(56;1.53e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.00826)|Myeloproliferative disorder(33;0.0179)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301) GBM - Glioblastoma multiforme(99;1.8e-09)|LUSC - Lung squamous cell carcinoma(3;0.116) TTGGCAGAGCTTTTTCAAACG 0.463000 8 46 0 0 1 0 0 CLSTN3 9746 broad.mit.edu 37 12 7302188 7302188 + Missense_Mutation SNP A A G TCGA-HT-7603-01A-21D-2086-08 TCGA-HT-7603-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75dc5918-1fa5-4dba-bb41-e8057e228931 09b29d7c-9b2a-4808-9b8d-1fd650cc4fad g.chr12:7302188A>G ENST00000537408.1 + 13 2718 c.2180A>G c.(2179-2181)gAt>gGt p.D727G CLSTN3_ENST00000266546.6_Missense_Mutation_p.D715G Q9BQT9 CSTN3_HUMAN calsyntenin 3 715 homophilic cell adhesion endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane calcium ion binding p.D715V(1) NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1) 33 CTGGTGGGGGATGACCTGGAT 0.567000 4 36 0 0 1 0 0 UTY 7404 broad.mit.edu 37 Y 15410959 15410959 + Missense_Mutation SNP A A G TCGA-HT-7603-01A-21D-2086-08 TCGA-HT-7603-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75dc5918-1fa5-4dba-bb41-e8057e228931 09b29d7c-9b2a-4808-9b8d-1fd650cc4fad g.chrY:15410959A>G ENST00000331397.4 - 24 4462 c.3455T>C c.(3454-3456)gTc>gCc p.V1152A UTY_ENST00000537580.1_Missense_Mutation_p.V1073A|UTY_ENST00000382896.4_Missense_Mutation_p.V1197A|UTY_ENST00000362096.4_Missense_Mutation_p.V1152A NM_001258267.1|NM_007125.4 NP_001245196.1|NP_009056.3 O14607 UTY_HUMAN ubiquitously transcribed tetratricopeptide repeat containing, Y-linked 1152 JmjC. chromatin modification nucleus metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen kidney(1)|lung(6) 7 ATACACAGGGACATTTGCTTC 0.383000 15 7 0 0 1 0 0 TNRC6A 27327 broad.mit.edu 37 16 24788379 24788379 + Nonsense_Mutation SNP C C T TCGA-HT-7603-01A-21D-2086-08 TCGA-HT-7603-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75dc5918-1fa5-4dba-bb41-e8057e228931 09b29d7c-9b2a-4808-9b8d-1fd650cc4fad g.chr16:24788379C>T ENST00000395799.3 + 5 418 c.289C>T c.(289-291)Cag>Tag p.Q97* TNRC6A_ENST00000315183.7_Nonsense_Mutation_p.Q97* NM_014494.2 NP_055309.2 Q8NDV7 TNR6A_HUMAN trinucleotide repeat containing 6A 97 Gln-rich. negative regulation of translation involved in gene silencing by miRNA cytoplasmic mRNA processing body|micro-ribonucleoprotein complex nucleotide binding|RNA binding breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 64 GBM - Glioblastoma multiforme(48;0.0394) gcagccacagcagcagcagca 0.602000 11 22 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7577548 7577548 + Missense_Mutation SNP C C T rs28934575 TCGA-HT-7603-01A-21D-2086-08 TCGA-HT-7603-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75dc5918-1fa5-4dba-bb41-e8057e228931 09b29d7c-9b2a-4808-9b8d-1fd650cc4fad g.chr17:7577548C>T ENST00000420246.2 - 7 865 c.733G>A c.(733-735)Ggc>Agc p.G245S TP53_ENST00000413465.2_Missense_Mutation_p.G245S|TP53_ENST00000455263.2_Missense_Mutation_p.G245S|TP53_ENST00000269305.4_Missense_Mutation_p.G245S|TP53_ENST00000445888.2_Missense_Mutation_p.G245S|TP53_ENST00000359597.4_Missense_Mutation_p.G245S NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 245 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain. G -> A (in sporadic cancers; somatic mutation).|G -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> D (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> E (in a sporadic cancer; somatic mutation).|G -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|G -> L (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> N (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> R (in sporadic cancers; somatic mutation).|G -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934575).|G -> V (in LFS; germline mutation and 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.G245S(304)|p.G245C(59)|p.G245R(10)|p.G152S(8)|p.0?(8)|p.?(5)|p.G152C(4)|p.G244_M246>V(3)|p.G245N(2)|p.G245fs*2(2)|p.G245H(1)|p.G245L(1)|p.G244fs*17(1)|p.G245F(1)|p.C242_M246>L(1)|p.C238_M246delCNSSCMGGM(1)|p.G245fs*22(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.M243fs*18(1)|p.G151_M153>V(1)|p.G245del(1)|p.G245fs*14(1)|p.G245fs*17(1)|p.G245fs*16(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) CGGTTCATGCCGCCCATGCAG 0.577000 G245S(LS1034_LARGE_INTESTINE)|G245S(NUGC2_STOMACH)|G245S(PANC0403_PANCREAS)|G245S(SKLMS1_SOFT_TISSUE)|G245S(SKMEL2_SKIN) 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) 27 18 0 0 1 0 0 FNBP1 23048 broad.mit.edu 37 9 132757223 132757223 + Missense_Mutation SNP G G C TCGA-HT-7603-01A-21D-2086-08 TCGA-HT-7603-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75dc5918-1fa5-4dba-bb41-e8057e228931 09b29d7c-9b2a-4808-9b8d-1fd650cc4fad g.chr9:132757223G>C ENST00000420781.1 - 2 257 c.39C>G c.(37-39)aaC>aaG p.N13K FNBP1_ENST00000446176.2_Missense_Mutation_p.N13K|FNBP1_ENST00000355681.3_Missense_Mutation_p.N13K Q96RU3 FNBP1_HUMAN formin binding protein 1 13 FCH.|Interaction with microtubules (By similarity).|Required for self-association and induction of membrane tubulation.|Self-association, lipid-binding and induction of membrane tubulation. endocytosis cell cortex|cytoplasmic membrane-bounded vesicle|cytoskeleton|lysosome|plasma membrane identical protein binding|lipid binding Ovarian(14;0.000536) GBM - Glioblastoma multiforme(294;0.0378) GTTTTTCTAAGTTGTCAAACT 0.333000 T MLL AML 23 82 0 0 1 0 0 ESPN 83715 broad.mit.edu 37 1 6488429 6488429 + Silent SNP C C T rs142425048 by1000genomes TCGA-HT-7603-01A-21D-2086-08 TCGA-HT-7603-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75dc5918-1fa5-4dba-bb41-e8057e228931 09b29d7c-9b2a-4808-9b8d-1fd650cc4fad g.chr1:6488429C>T ENST00000377828.1 + 2 606 c.438C>T c.(436-438)gcC>gcT p.A146A NM_031475.2 NP_113663.2 B1AK53 ESPN_HUMAN espin 146 sensory perception of sound brush border|cytoplasm|filamentous actin|stereocilium actin filament binding|SH3 domain binding NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1) 17 Ovarian(185;0.0386)|all_lung(157;0.154) all_cancers(23;3.6e-37)|all_epithelial(116;2.56e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|all_hematologic(16;6.92e-06)|Colorectal(325;4.47e-05)|Acute lymphoblastic leukemia(12;4.92e-05)|Breast(487;7.61e-05)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392) Epithelial(90;1.82e-35)|GBM - Glioblastoma multiforme(13;3e-28)|Kidney(185;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(229;5.63e-08)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;1.41e-05)|BRCA - Breast invasive adenocarcinoma(365;0.000109)|STAD - Stomach adenocarcinoma(132;0.00167)|Lung(427;0.0108)|LUSC - Lung squamous cell carcinoma(448;0.0253)|READ - Rectum adenocarcinoma(331;0.0419) ACTACGCTGCCGCCAAAGGAG 0.647000 3 36 0 0 1 0 0 EMR2 30817 broad.mit.edu 37 19 14876167 14876167 + Missense_Mutation SNP C C G TCGA-HT-7603-01A-21D-2086-08 TCGA-HT-7603-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75dc5918-1fa5-4dba-bb41-e8057e228931 09b29d7c-9b2a-4808-9b8d-1fd650cc4fad g.chr19:14876167C>G ENST00000315576.3 - 10 1322 c.871G>C c.(871-873)Gac>Cac p.D291H EMR2_ENST00000601345.1_Missense_Mutation_p.D291H|EMR2_ENST00000594294.1_Missense_Mutation_p.D242H|EMR2_ENST00000595839.1_Missense_Mutation_p.D149H|EMR2_ENST00000392967.2_Missense_Mutation_p.D291H|EMR2_ENST00000392964.3_Missense_Mutation_p.D30H|EMR2_ENST00000594076.1_Missense_Mutation_p.D198H|EMR2_ENST00000346057.1_Missense_Mutation_p.D242H|EMR2_ENST00000353005.1_Missense_Mutation_p.D149H|EMR2_ENST00000596991.2_Missense_Mutation_p.D291H|EMR2_ENST00000392965.3_Missense_Mutation_p.D291H|EMR2_ENST00000353876.1_Missense_Mutation_p.D198H NM_013447.2 NP_038475.2 Q9UHX3 EMR2_HUMAN egf-like module containing, mucin-like, hormone receptor-like 2 291 cell adhesion|neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1) 48 GGCTTGTAGTCTCTGCCCAGG 0.602000 5 91 0 0 1 0 0 CLUH 23277 broad.mit.edu 37 17 2605307 2605307 + Nonsense_Mutation SNP G G A TCGA-HT-7603-01A-21D-2086-08 TCGA-HT-7603-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75dc5918-1fa5-4dba-bb41-e8057e228931 09b29d7c-9b2a-4808-9b8d-1fd650cc4fad g.chr17:2605307G>A ENST00000570628.1 - 4 511 c.406C>T c.(406-408)Cga>Tga p.R136* CLUH_ENST00000575014.1_Nonsense_Mutation_p.R68*|CLUH_ENST00000538975.1_Nonsense_Mutation_p.R136*|CLUH_ENST00000435359.1_Nonsense_Mutation_p.R136* clustered mitochondria (cluA/CLU1) homolog AGCAGGTCTCGGACATGGCGC 0.627000 11 16 0 0 1 0 0 CEP95 90799 broad.mit.edu 37 17 62518886 62518886 + Missense_Mutation SNP T T G TCGA-HT-7603-01A-21D-2086-08 TCGA-HT-7603-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75dc5918-1fa5-4dba-bb41-e8057e228931 09b29d7c-9b2a-4808-9b8d-1fd650cc4fad g.chr17:62518886T>G ENST00000556440.2 + 8 1292 c.782T>G c.(781-783)aTt>aGt p.I261S CEP95_ENST00000553412.1_Missense_Mutation_p.I97S NM_138363.1 NP_612372.1 Q96GE4 CEP95_HUMAN centrosomal protein 95kDa 261 centrosome|spindle pole protein binding endometrium(1)|kidney(3)|large_intestine(5)|lung(3)|ovary(1) 13 CGAGCAGCTATTCCTTTACAT 0.483000 4 40 0 0 1 0 0 DPY19L2P2 0 broad.mit.edu 37 7 102825947 102825947 + RNA SNP A A G TCGA-HT-7603-01A-21D-2086-08 TCGA-HT-7603-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75dc5918-1fa5-4dba-bb41-e8057e228931 09b29d7c-9b2a-4808-9b8d-1fd650cc4fad g.chr7:102825947A>G ENST00000312132.4 - 0 3750 ACAGCTTGACACTTGCCATTG 0.373000 3 45 0 0 1 0 0 ACD 65057 broad.mit.edu 37 16 67694142 67694142 + Silent SNP C C T TCGA-HT-7603-01A-21D-2086-08 TCGA-HT-7603-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75dc5918-1fa5-4dba-bb41-e8057e228931 09b29d7c-9b2a-4808-9b8d-1fd650cc4fad g.chr16:67694142C>T ENST00000219251.8 - 1 571 c.240G>A c.(238-240)ccG>ccA p.P80P ACD_ENST00000393919.4_Silent_p.P80P NM_001082486.1|NM_001082487.1|NM_022914.2 NP_001075955.1|NP_001075956.1|NP_075065.2 Q96AP0 ACD_HUMAN adrenocortical dysplasia homolog (mouse) 80 intracellular protein transport|negative regulation of telomere maintenance via telomerase|positive regulation of single-stranded telomeric DNA binding|positive regulation of telomerase activity|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|telomere assembly nuclear telomere cap complex|nucleoplasm DNA binding|DNA polymerase binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 17 Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228) CTACACCCAGCGGATGCAACG 0.706000 3 44 0 0 1 0 0 TAOK3 51347 broad.mit.edu 37 12 118693346 118693346 + Silent SNP T T C TCGA-HT-7603-01A-21D-2086-08 TCGA-HT-7603-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75dc5918-1fa5-4dba-bb41-e8057e228931 09b29d7c-9b2a-4808-9b8d-1fd650cc4fad g.chr12:118693346T>C ENST00000392533.3 - 3 517 c.27A>G c.(25-27)ccA>ccG p.P9P TAOK3_ENST00000419821.2_Silent_p.P9P NM_016281.3 NP_057365.3 Q9H2K8 TAOK3_HUMAN TAO kinase 3 9 MAPKKK cascade|negative regulation of JNK cascade|positive regulation of JNK cascade|protein autophosphorylation mitochondrion|plasma membrane ATP binding|protein kinase inhibitor activity|protein serine/threonine kinase activity central_nervous_system(1)|lung(5)|skin(1) 7 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) CGGCAATCTCTGGGTCCTTCA 0.398000 10 97 0 0 1 0 0 IDH1 3417 broad.mit.edu 37 2 209113112 209113112 + Missense_Mutation SNP C C T rs121913500 TCGA-HT-7603-01A-21D-2086-08 TCGA-HT-7603-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75dc5918-1fa5-4dba-bb41-e8057e228931 09b29d7c-9b2a-4808-9b8d-1fd650cc4fad g.chr2:209113112C>T ENST00000415913.1 - 4 776 c.395G>A c.(394-396)cGt>cAt p.R132H IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H 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 10 31 0 0 1 0 0 GGT3P 0 broad.mit.edu 37 22 18769145 18769145 + RNA SNP G G A TCGA-HT-7603-01A-21D-2086-08 TCGA-HT-7603-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75dc5918-1fa5-4dba-bb41-e8057e228931 09b29d7c-9b2a-4808-9b8d-1fd650cc4fad g.chr22:18769145G>A ENST00000412448.1 - 0 1141 TGAGGCTGCCGTTGTAGAAGG 0.612000 3 41 0 0 1 0 0 SLC29A3 55315 broad.mit.edu 37 10 73122070 73122070 + Missense_Mutation SNP C C T TCGA-HT-7603-01A-21D-2086-08 TCGA-HT-7603-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75dc5918-1fa5-4dba-bb41-e8057e228931 09b29d7c-9b2a-4808-9b8d-1fd650cc4fad g.chr10:73122070C>T ENST00000373189.5 + 6 1185 c.1133C>T c.(1132-1134)gCg>gTg p.A378V SLC29A3_ENST00000469204.1_3'UTR NM_001174098.1|NM_018344.5 NP_001167569.1|NP_060814.4 Q9BZD2 S29A3_HUMAN solute carrier family 29 (equilibrative nucleoside transporter), member 3 378 nucleobase, nucleoside and nucleotide metabolic process integral to membrane|late endosome membrane|lysosomal membrane nucleoside transmembrane transporter activity endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|urinary_tract(1) 15 AATAGCAAGGCGCTCCCAGGG 0.602000 30 52 0 0 1 0 0 MARC2 54996 broad.mit.edu 37 1 220936309 220936309 + Silent SNP T T C TCGA-HT-7603-01A-21D-2086-08 TCGA-HT-7603-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75dc5918-1fa5-4dba-bb41-e8057e228931 09b29d7c-9b2a-4808-9b8d-1fd650cc4fad g.chr1:220936309T>C ENST00000366913.3 + 4 865 c.667T>C c.(667-669)Ttg>Ctg p.L223L MARC2_ENST00000359316.2_Silent_p.L223L NM_017898.3 NP_060368.2 Q969Z3 MOSC2_HUMAN mitochondrial amidoxime reducing component 2 223 MOSC. mitochondrial outer membrane|peroxisome molybdenum ion binding|oxidoreductase activity|pyridoxal phosphate binding CCTGGTAGATTTGAATACCAG 0.502000 8 38 0 0 1 0 0 ATRX 546 broad.mit.edu 37 X 76909629 76909629 + Nonsense_Mutation SNP G G A TCGA-HT-7603-01A-21D-2086-08 TCGA-HT-7603-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75dc5918-1fa5-4dba-bb41-e8057e228931 09b29d7c-9b2a-4808-9b8d-1fd650cc4fad g.chrX:76909629G>A ENST00000373344.5 - 14 4490 c.4276C>T c.(4276-4278)Cga>Tga p.R1426* ATRX_ENST00000395603.3_Nonsense_Mutation_p.R1388*|ATRX_ENST00000480283.1_5'UTR NM_000489.3 NP_000480.2 P46100 ATRX_HUMAN alpha thalassemia/mental retardation syndrome X-linked 1426 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.R1426*(1)|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) TTAATACGTCGCCTTTTCTTT 0.328000 """Mis, F, N""" """Pancreatic neuroendocrine tumors, paediatric GBM""" ATR-X (alpha thalassemia/mental retardation) syndrome 22 20 0 0 1 0 0 TENM4 26011 broad.mit.edu 37 11 78380316 78380316 + Missense_Mutation SNP T T C TCGA-HT-7603-01A-21D-2086-08 TCGA-HT-7603-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75dc5918-1fa5-4dba-bb41-e8057e228931 09b29d7c-9b2a-4808-9b8d-1fd650cc4fad g.chr11:78380316T>C ENST00000278550.7 - 32 7536 c.7074A>G c.(7072-7074)atA>atG p.I2358M NM_001098816.2 NP_001092286.2 teneurin transmembrane protein 4 TGTCACAAGCTATGTAAAACT 0.483000 4 85 0 0 1 0 0 OR5P3 120066 broad.mit.edu 37 11 7847281 7847281 + Missense_Mutation SNP A A G TCGA-HT-7603-01A-21D-2086-08 TCGA-HT-7603-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75dc5918-1fa5-4dba-bb41-e8057e228931 09b29d7c-9b2a-4808-9b8d-1fd650cc4fad g.chr11:7847281A>G ENST00000328375.1 - 1 238 c.239T>C c.(238-240)gTc>gCc p.V80A RP11-35J10.5_ENST00000527565.1_lincRNA NM_153445.1 NP_703146.1 Q8WZ94 OR5P3_HUMAN olfactory receptor, family 5, subfamily P, member 3 80 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1) 15 Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189) CATGAGCATGACAGGTGTGAC 0.478000 10 33 0 0 1 0 0 CIRH1A 84916 broad.mit.edu 37 16 69199373 69199373 + Missense_Mutation SNP C C G TCGA-HT-7603-01A-21D-2086-08 TCGA-HT-7603-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75dc5918-1fa5-4dba-bb41-e8057e228931 09b29d7c-9b2a-4808-9b8d-1fd650cc4fad g.chr16:69199373C>G ENST00000563094.1 + 15 1811 c.1777C>G c.(1777-1779)Ccg>Gcg p.P593A CIRH1A_ENST00000352319.4_Missense_Mutation_p.P478A|CIRH1A_ENST00000314423.7_Missense_Mutation_p.P593A Q969X6 CIR1A_HUMAN cirrhosis, autosomal recessive 1A (cirhin) 593 nucleolus protein binding breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1) 16 OV - Ovarian serous cystadenocarcinoma(108;0.125) TCCCAAGAGACCGATGCACAT 0.463000 11 37 0 0 1 0 0 TMEM79 84283 broad.mit.edu 37 1 156255699 156255699 + Missense_Mutation SNP C C T TCGA-HT-7603-01A-21D-2086-08 TCGA-HT-7603-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75dc5918-1fa5-4dba-bb41-e8057e228931 09b29d7c-9b2a-4808-9b8d-1fd650cc4fad g.chr1:156255699C>T ENST00000405535.2 + 2 853 c.682C>T c.(682-684)Cgg>Tgg p.R228W TMEM79_ENST00000295694.5_Missense_Mutation_p.R228W|TMEM79_ENST00000495881.1_3'UTR|TMEM79_ENST00000357501.2_Intron NM_032323.2 NP_115699.1 Q9BSE2 TMM79_HUMAN transmembrane protein 79 228 integral to membrane breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|urinary_tract(1) 21 Hepatocellular(266;0.158) TGATGTCCCACGGCTGCCCAC 0.607000 45 112 0 0 1 0 0 FAM124A 220108 broad.mit.edu 37 13 51825995 51825995 + Silent SNP C C T TCGA-HT-7603-01A-21D-2086-08 TCGA-HT-7603-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75dc5918-1fa5-4dba-bb41-e8057e228931 09b29d7c-9b2a-4808-9b8d-1fd650cc4fad g.chr13:51825995C>T ENST00000322475.8 + 3 627 c.492C>T c.(490-492)ccC>ccT p.P164P FAM124A_ENST00000280057.6_Silent_p.P200P NM_001242312.1 NP_001229241.1 Q86V42 F124A_HUMAN family with sequence similarity 124A 164 breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|skin(1) 26 Acute lymphoblastic leukemia(7;0.000334)|Breast(56;0.00156)|Prostate(109;0.00538)|Lung NSC(96;0.0216)|Hepatocellular(98;0.152)|Glioma(44;0.236) GBM - Glioblastoma multiforme(99;4.25e-07) CCATCCGGCCCGTGCACTACG 0.632000 4 6 0 0 1 0 0 TNRC6A 27327 broad.mit.edu 37 16 24788378 24788378 + Missense_Mutation SNP G G T TCGA-HT-7603-01A-21D-2086-08 TCGA-HT-7603-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75dc5918-1fa5-4dba-bb41-e8057e228931 09b29d7c-9b2a-4808-9b8d-1fd650cc4fad g.chr16:24788378G>T ENST00000395799.3 + 5 417 c.288G>T c.(286-288)caG>caT p.Q96H TNRC6A_ENST00000315183.7_Missense_Mutation_p.Q96H NM_014494.2 NP_055309.2 Q8NDV7 TNR6A_HUMAN trinucleotide repeat containing 6A 96 Gln-rich. negative regulation of translation involved in gene silencing by miRNA cytoplasmic mRNA processing body|micro-ribonucleoprotein complex nucleotide binding|RNA binding breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 64 GBM - Glioblastoma multiforme(48;0.0394) agcagccacagcagcagcagc 0.597000 11 23 5.50884e-06 5.89317e-06 1 1 0 FOXP2 93986 broad.mit.edu 37 7 114270018 114270018 + Silent SNP G G A TCGA-HT-7603-01A-21D-2086-08 TCGA-HT-7603-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75dc5918-1fa5-4dba-bb41-e8057e228931 09b29d7c-9b2a-4808-9b8d-1fd650cc4fad g.chr7:114270018G>A ENST00000393500.3 + 11 1150 c.330G>A c.(328-330)caG>caA p.Q110Q FOXP2_ENST00000393498.2_Silent_p.Q165Q|FOXP2_ENST00000393494.2_Silent_p.Q185Q|FOXP2_ENST00000390668.3_Silent_p.Q209Q|FOXP2_ENST00000378237.3_Silent_p.Q185Q|FOXP2_ENST00000393489.3_Silent_p.Q93Q|FOXP2_ENST00000360232.4_Silent_p.Q185Q|FOXP2_ENST00000408937.3_Silent_p.Q210Q|FOXP2_ENST00000350908.4_Silent_p.Q185Q|FOXP2_ENST00000393491.3_Silent_p.Q93Q|FOXP2_ENST00000403559.4_Silent_p.Q202Q O15409 FOXP2_HUMAN forkhead box P2 185 Gln-rich. camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning cytoplasm|transcription factor complex chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|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|zinc ion binding p.Q210Q(2) breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 52 agcagcaacagcagcagcagc 0.502000 5 31 0 0 1 0 0 CHRNA6 8973 broad.mit.edu 37 8 42620342 42620342 + Missense_Mutation SNP C C T TCGA-HT-7603-01A-21D-2086-08 TCGA-HT-7603-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75dc5918-1fa5-4dba-bb41-e8057e228931 09b29d7c-9b2a-4808-9b8d-1fd650cc4fad g.chr8:42620342C>T ENST00000276410.2 - 2 440 c.85G>A c.(85-87)Gtg>Atg p.V29M CHRNA6_ENST00000530869.1_5'UTR|CHRNA6_ENST00000534622.1_Missense_Mutation_p.V29M NM_004198.3 NP_004189.1 Q15825 ACHA6_HUMAN cholinergic receptor, nicotinic, alpha 6 (neuronal) 29 cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity endometrium(2)|large_intestine(3)|liver(1)|lung(15)|ovary(1) 22 all_lung(13;3.33e-12)|Lung NSC(13;9.17e-11)|Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184) all_lung(54;0.00439)|Lung NSC(58;0.0124)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151) Lung(22;0.0252)|LUSC - Lung squamous cell carcinoma(45;0.0869) GCACAGCCCACACAGCCTGTG 0.562000 25 66 0 0 1 0 0 DSG2 1829 broad.mit.edu 37 18 29126613 29126613 + Silent SNP T T C TCGA-HT-7603-01A-21D-2086-08 TCGA-HT-7603-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75dc5918-1fa5-4dba-bb41-e8057e228931 09b29d7c-9b2a-4808-9b8d-1fd650cc4fad g.chr18:29126613T>C ENST00000261590.8 + 15 3473 c.3264T>C c.(3262-3264)ttT>ttC p.F1088F RP11-75N4.2_ENST00000583706.1_RNA NM_001943.3 NP_001934.2 Q14126 DSG2_HUMAN desmoglein 2 1088 cellular component disassembly involved in apoptosis|homophilic cell adhesion desmosome|integral to membrane calcium ion binding breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1) 49 OV - Ovarian serous cystadenocarcinoma(10;0.0068) TGCCAGATTTTGGTTTAGAGG 0.473000 6 49 0 0 1 0 0 RIMBP2 23504 broad.mit.edu 37 12 130898840 130898840 + Nonsense_Mutation SNP G G A TCGA-HT-7603-01A-21D-2086-08 TCGA-HT-7603-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75dc5918-1fa5-4dba-bb41-e8057e228931 09b29d7c-9b2a-4808-9b8d-1fd650cc4fad g.chr12:130898840G>A ENST00000261655.4 - 14 2645 c.2482C>T c.(2482-2484)Cga>Tga p.R828* NM_015347.4 NP_056162.4 O15034 RIMB2_HUMAN RIMS binding protein 2 828 cell junction|synapse NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1) 96 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.213) OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05) AGGCGGTCTCGCCCGTAATCG 0.567000 18 27 0 0 1 0 0 ZNF860 344787 broad.mit.edu 37 3 32031226 32031226 + Missense_Mutation SNP C C G TCGA-HT-7603-01A-21D-2086-08 TCGA-HT-7603-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75dc5918-1fa5-4dba-bb41-e8057e228931 09b29d7c-9b2a-4808-9b8d-1fd650cc4fad g.chr3:32031226C>G ENST00000360311.4 + 2 1204 c.655C>G c.(655-657)Cta>Gta p.L219V NM_001137674.2 NP_001131146.2 A6NHJ4 ZN860_HUMAN zinc finger protein 860 219 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|lung(4)|ovary(1) 8 ATTACTCACACTAAAACAGGA 0.333000 7 34 0 0 1 0 0 UBA2 10054 broad.mit.edu 37 19 34929585 34929585 + Silent SNP G G A TCGA-HT-7603-01A-21D-2086-08 TCGA-HT-7603-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75dc5918-1fa5-4dba-bb41-e8057e228931 09b29d7c-9b2a-4808-9b8d-1fd650cc4fad g.chr19:34929585G>A ENST00000439527.2 + 6 705 c.207G>A c.(205-207)ccG>ccA p.P69P UBA2_ENST00000246548.4_Silent_p.P165P Q9UBT2 SAE2_HUMAN ubiquitin-like modifier activating enzyme 2 165 protein sumoylation nucleus ATP binding|enzyme activator activity|ligase activity|metal ion binding|protein heterodimerization activity|SUMO activating enzyme activity breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|upper_aerodigestive_tract(1) 20 Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.211) ATCCTAAGCCGACCCAGAGAA 0.403000 27 83 0 0 1 0 0 C11orf82 220042 broad.mit.edu 37 11 82644345 82644345 + Silent SNP A A G TCGA-HT-7603-01A-21D-2086-08 TCGA-HT-7603-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75dc5918-1fa5-4dba-bb41-e8057e228931 09b29d7c-9b2a-4808-9b8d-1fd650cc4fad g.chr11:82644345A>G ENST00000533655.1 + 6 2177 c.1965A>G c.(1963-1965)ggA>ggG p.G655G C11orf82_ENST00000528759.1_3'UTR|C11orf82_ENST00000525361.1_Intron|C11orf82_ENST00000430323.2_Silent_p.G655G|C11orf82_ENST00000329143.3_Silent_p.G354G NM_145018.3 NP_659455.3 Q8IXT1 NOXIN_HUMAN chromosome 11 open reading frame 82 655 apoptosis|cell cycle arrest cytoplasm|nucleus haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1) 33 TGCCTTGGGGACATATCAATA 0.343000 8 128 0 0 1 0 0 RAP2C 57826 broad.mit.edu 37 X 131351245 131351245 + Missense_Mutation SNP C C T TCGA-HT-7603-01A-21D-2086-08 TCGA-HT-7603-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75dc5918-1fa5-4dba-bb41-e8057e228931 09b29d7c-9b2a-4808-9b8d-1fd650cc4fad g.chrX:131351245C>T ENST00000342983.2 - 2 798 c.52G>A c.(52-54)Gcc>Acc p.A18T RAP2C_ENST00000460462.1_Intron|RP5-842K24.2_ENST00000421483.1_RNA|RAP2C_ENST00000370874.1_Missense_Mutation_p.A18T NM_001271186.1|NM_001271187.1|NM_021183.3 NP_001258115.1|NP_001258116.1|NP_067006.3 Q9Y3L5 RAP2C_HUMAN RAP2C, member of RAS oncogene family 18 negative regulation of cell migration|positive regulation of protein autophosphorylation|Rap protein signal transduction|regulation of protein tyrosine kinase activity recycling endosome membrane GTP binding|GTPase activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|ovary(1)|upper_aerodigestive_tract(2) 8 Acute lymphoblastic leukemia(192;0.000127) ACAGTAAGGGCAGATTTGCCA 0.507000 6 147 0 0 1 0 0 SALL1 6299 broad.mit.edu 37 16 51171049 51171049 + Missense_Mutation SNP C C A TCGA-HT-7603-01A-21D-2086-08 TCGA-HT-7603-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75dc5918-1fa5-4dba-bb41-e8057e228931 09b29d7c-9b2a-4808-9b8d-1fd650cc4fad g.chr16:51171049C>A ENST00000440970.1 - 3 4089 c.3658G>T c.(3658-3660)Gac>Tac p.D1220Y SALL1_ENST00000566102.1_3'UTR|SALL1_ENST00000541611.1_Missense_Mutation_p.D140Y|SALL1_ENST00000251020.4_Missense_Mutation_p.D1317Y NM_001127892.1 NP_001121364.1 Q9NSC2 SALL1_HUMAN spalt-like transcription factor 1 1317 adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development chromocenter|cytoplasm|heterochromatin|nucleus beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3) 126 all_cancers(37;0.0322) COAD - Colon adenocarcinoma(2;0.24) TCCTTGCTGTCCTCCACGAAG 0.567000 14 35 3.45872e-05 3.61593e-05 1 1 0 SFTPD 6441 broad.mit.edu 37 10 81706233 81706233 + Silent SNP G G A rs148973610 TCGA-HT-7603-01A-21D-2086-08 TCGA-HT-7603-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75dc5918-1fa5-4dba-bb41-e8057e228931 09b29d7c-9b2a-4808-9b8d-1fd650cc4fad g.chr10:81706233G>A ENST00000372292.3 - 2 223 c.183C>T c.(181-183)ggC>ggT p.G61G NM_003019.4 NP_003010.4 P35247 SFTPD_HUMAN surfactant protein D 61 Collagen-like. cell junction assembly|innate immune response|lung alveolus development|macrophage chemotaxis|negative regulation of interleukin-2 biosynthetic process|negative regulation of T cell proliferation|positive regulation of phagocytosis|reactive oxygen species metabolic process|receptor-mediated endocytosis|respiratory gaseous exchange|surfactant homeostasis collagen|endocytic vesicle|extracellular space|lysosome bacterial cell surface binding|protein binding|sugar binding endometrium(1)|kidney(3)|large_intestine(5)|lung(3)|skin(4)|urinary_tract(1) 17 Breast(12;0.000615)|Prostate(51;0.0095)|all_epithelial(25;0.027) Epithelial(14;0.0244)|all cancers(16;0.0558)|Colorectal(32;0.109) CCCCCTTCTCGCCCCGAGGGC 0.602000 3 43 0 0 1 0 0 KIF3B 9371 broad.mit.edu 37 20 30897692 30897692 + Missense_Mutation SNP C C A TCGA-HT-7603-01A-21D-2086-08 TCGA-HT-7603-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75dc5918-1fa5-4dba-bb41-e8057e228931 09b29d7c-9b2a-4808-9b8d-1fd650cc4fad g.chr20:30897692C>A ENST00000375712.3 + 2 279 c.112C>A c.(112-114)Ctg>Atg p.L38M NM_004798.3 NP_004789.1 O15066 KIF3B_HUMAN kinesin family member 3B 38 Kinesin-motor. anterograde axon cargo transport|blood coagulation|determination of left/right symmetry|mitotic centrosome separation|plus-end-directed vesicle transport along microtubule|spindle assembly involved in mitosis centrosome|cytosol|kinesin II complex|plus-end kinesin complex|spindle microtubule ATP binding|plus-end-directed microtubule motor activity|Rho GTPase binding NS(2)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 36 UCEC - Uterine corpus endometrioid carcinoma (5;0.0241) GGATGTTAAGCTGGGGCAGGT 0.522000 3 36 1 1 1 1 0 GADD45GIP1 90480 broad.mit.edu 37 19 13065170 13065170 + Missense_Mutation SNP C C T TCGA-HT-7603-01A-21D-2086-08 TCGA-HT-7603-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75dc5918-1fa5-4dba-bb41-e8057e228931 09b29d7c-9b2a-4808-9b8d-1fd650cc4fad g.chr19:13065170C>T ENST00000316939.1 - 2 544 c.521G>A c.(520-522)cGc>cAc p.R174H NM_052850.2 NP_443082.2 Q8TAE8 G45IP_HUMAN growth arrest and DNA-damage-inducible, gamma interacting protein 1 174 cell cycle|interspecies interaction between organisms nucleus protein binding ovary(2)|prostate(1)|skin(1) 4 CTCCTGGAAGCGGGCACTCCT 0.622000 17 31 0 0 1 0 0 EEF1D 1936 broad.mit.edu 37 8 144668979 144668979 + Missense_Mutation SNP A A C TCGA-HT-7603-01A-21D-2086-08 TCGA-HT-7603-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75dc5918-1fa5-4dba-bb41-e8057e228931 09b29d7c-9b2a-4808-9b8d-1fd650cc4fad g.chr8:144668979A>C ENST00000532741.1 - 2 1513 c.1285T>G c.(1285-1287)Ttc>Gtc p.F429V EEF1D_ENST00000528610.1_Missense_Mutation_p.F13V|EEF1D_ENST00000532400.1_Missense_Mutation_p.F13V|EEF1D_ENST00000317198.6_Missense_Mutation_p.F13V|EEF1D_ENST00000526838.1_Missense_Mutation_p.F13V|EEF1D_ENST00000423316.2_Missense_Mutation_p.F379V|EEF1D_ENST00000442189.2_Missense_Mutation_p.F379V|EEF1D_ENST00000531621.1_Missense_Mutation_p.F13V|EEF1D_ENST00000524624.1_Missense_Mutation_p.F13V|EEF1D_ENST00000529272.1_Missense_Mutation_p.F13V|EEF1D_ENST00000419152.2_Missense_Mutation_p.F13V|EEF1D_ENST00000395119.3_Missense_Mutation_p.F13V P29692 EF1D_HUMAN eukaryotic translation elongation factor 1 delta (guanine nucleotide exchange protein) 13 positive regulation of I-kappaB kinase/NF-kappaB cascade cytosol|eukaryotic translation elongation factor 1 complex protein binding|signal transducer activity|translation elongation factor activity breast(2)|cervix(1)|endometrium(1)|kidney(4)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 14 all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239) AACTTGTCGAACCAGATCTTC 0.552000 4 94 0 0 1 0 0 OR5P3 120066 broad.mit.edu 37 11 7847305 7847305 + Missense_Mutation SNP C C G TCGA-HT-7603-01A-21D-2086-08 TCGA-HT-7603-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75dc5918-1fa5-4dba-bb41-e8057e228931 09b29d7c-9b2a-4808-9b8d-1fd650cc4fad g.chr11:7847305C>G ENST00000328375.1 - 1 214 c.215G>C c.(214-216)gGg>gCg p.G72A RP11-35J10.5_ENST00000527565.1_lincRNA NM_153445.1 NP_703146.1 Q8WZ94 OR5P3_HUMAN olfactory receptor, family 5, subfamily P, member 3 72 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1) 15 Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189) TGAGGAGTACCCAATGTCTAC 0.438000 11 37 0 0 1 0 0 CDV3 55573 broad.mit.edu 37 3 133292940 133292942 + In_Frame_Del DEL AAG AAG - TCGA-HT-7603-01A-21D-2086-08 TCGA-HT-7603-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75dc5918-1fa5-4dba-bb41-e8057e228931 09b29d7c-9b2a-4808-9b8d-1fd650cc4fad g.chr3:133292940_133292942delAAG ENST00000264993.3 + 1 367_369 c.52_54delAAG c.(52-54)del p.K22del CDV3_ENST00000431519.2_In_Frame_Del_p.K22del NM_001134422.1|NM_017548.4 NP_001127894.1|NP_060018.1 Q9UKY7 CDV3_HUMAN CDV3 homolog (mouse) 22 Poly-Lys. cell proliferation cytoplasm kidney(3)|lung(1)|prostate(1) 5 CAAGAGGGACAAGAAGAAGAAGA 0.744 2 4 --- --- --- --- CCDC144B 0 broad.mit.edu 37 17 18498497 18498498 + RNA INS - - A rs72195768 TCGA-HT-7603-01A-21D-2086-08 TCGA-HT-7603-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75dc5918-1fa5-4dba-bb41-e8057e228931 09b29d7c-9b2a-4808-9b8d-1fd650cc4fad g.chr17:18498497_18498498insA ENST00000442583.1 - 0 749 NS(3)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(6)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2) 36 CTGCAGGCCTGAAAAAAAAAAA 0.243 2 4 --- --- --- --- RP13-516M14.2 0 broad.mit.edu 37 17 80173535 80173535 + RNA DEL C C - rs112012232 TCGA-HT-7603-01A-21D-2086-08 TCGA-HT-7603-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75dc5918-1fa5-4dba-bb41-e8057e228931 09b29d7c-9b2a-4808-9b8d-1fd650cc4fad g.chr17:80173535delC ENST00000581303.1 + 0 1371 tccttccctgccccccacact 0.701 5 2 --- --- --- --- BAGE2 85319 broad.mit.edu 37 21 11085940 11085942 + RNA DEL CAC CAC - TCGA-HT-7603-01A-21D-2086-08 TCGA-HT-7603-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75dc5918-1fa5-4dba-bb41-e8057e228931 09b29d7c-9b2a-4808-9b8d-1fd650cc4fad g.chr21:11085940_11085942delCAC ENST00000470054.1 - 0 324 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) ccaccaccatcaccaccaccacc 0.532 4 9 --- --- --- ---