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 CYBB 1536 broad.mit.edu 37 X 37660587 37660587 + Missense_Mutation SNP G G C TCGA-DU-6403-01A-11D-1705-08 TCGA-DU-6403-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d48a626-5f15-4f2d-8ca9-947b7d39146a 1ae82b76-b781-4d6e-a0da-ba341056fe11 g.chrX:37660587G>C ENST00000378588.4 + 8 950 c.883G>C c.(883-885)Gtg>Ctg p.V295L CYBB_ENST00000536160.1_Missense_Mutation_p.V28L|TM4SF2_ENST00000465127.1_Intron|CYBB_ENST00000545017.1_Missense_Mutation_p.V263L|CYBB_ENST00000492288.1_3'UTR NM_000397.3 NP_000388.2 P04839 CY24B_HUMAN cytochrome b-245, beta polypeptide 295 FAD-binding FR-type. electron transport chain|inflammatory response|innate immune response|respiratory burst|superoxide anion generation NADPH oxidase complex electron carrier activity|flavin adenine dinucleotide binding|heme binding|protein heterodimerization activity|superoxide-generating NADPH oxidase activity|voltage-gated ion channel activity central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|prostate(2)|skin(2) 32 TCAACAGAAGGTGGTCATCAC 0.418000 81 149 0 0 1 0 0 DVL2 1856 broad.mit.edu 37 17 7130442 7130442 + Missense_Mutation SNP C C T TCGA-DU-6403-01A-11D-1705-08 TCGA-DU-6403-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d48a626-5f15-4f2d-8ca9-947b7d39146a 1ae82b76-b781-4d6e-a0da-ba341056fe11 g.chr17:7130442C>T ENST00000005340.5 - 13 1792 c.1510G>A c.(1510-1512)Gtc>Atc p.V504I DVL2_ENST00000575458.1_Missense_Mutation_p.V498I NM_004422.2 NP_004413.1 O14641 DVL2_HUMAN dishevelled segment polarity protein 2 504 DEP. canonical Wnt receptor signaling pathway involved in regulation of cell proliferation|intracellular signal transduction|neural tube closure|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|segment specification|transcription from RNA polymerase II promoter cytosol|nucleus|plasma membrane frizzled binding|identical protein binding|signal transducer activity breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(7)|skin(1) 25 TCTCCGAAGACGTAATAGCAC 0.587000 37 67 0 0 1 0 0 OR5AP2 338675 broad.mit.edu 37 11 56409492 56409492 + Missense_Mutation SNP C C T TCGA-DU-6403-01A-11D-1705-08 TCGA-DU-6403-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d48a626-5f15-4f2d-8ca9-947b7d39146a 1ae82b76-b781-4d6e-a0da-ba341056fe11 g.chr11:56409492C>T ENST00000544374.1 - 1 455 c.427G>A c.(427-429)Gtg>Atg p.V143M OR5AP2_ENST00000302981.1_Missense_Mutation_p.V142M Q8NGF4 O5AP2_HUMAN olfactory receptor, family 5, subfamily AP, member 2 142 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.V142M(1) breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 29 CTCCCAGACACGAGAACTGGG 0.488000 12 33 0 0 1 0 0 TFDP3 51270 broad.mit.edu 37 X 132351926 132351926 + Missense_Mutation SNP G G A TCGA-DU-6403-01A-11D-1705-08 TCGA-DU-6403-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d48a626-5f15-4f2d-8ca9-947b7d39146a 1ae82b76-b781-4d6e-a0da-ba341056fe11 g.chrX:132351926G>A ENST00000310125.4 - 1 450 c.362C>T c.(361-363)aCg>aTg p.T121M NM_016521.2 NP_057605.3 Q5H9I0 TFDP3_HUMAN transcription factor Dp family, member 3 121 Critical for repression of E2F activity. transcription factor complex DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(2)|kidney(4)|large_intestine(1)|lung(8)|ovary(1)|prostate(2) 19 Acute lymphoblastic leukemia(192;0.000127) CCTCTGCACCGTCTCCCAGAC 0.592000 35 81 0 0 1 0 0 ATP8B3 148229 broad.mit.edu 37 19 1785228 1785228 + Silent SNP G G A TCGA-DU-6403-01A-11D-1705-08 TCGA-DU-6403-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d48a626-5f15-4f2d-8ca9-947b7d39146a 1ae82b76-b781-4d6e-a0da-ba341056fe11 g.chr19:1785228G>A ENST00000539485.1 - 27 3725 c.3492C>T c.(3490-3492)taC>taT p.Y1164Y ATP8B3_ENST00000525591.1_Silent_p.Y1117Y|ATP8B3_ENST00000310127.6_Silent_p.Y1154Y O60423 AT8B3_HUMAN ATPase, aminophospholipid transporter, class I, type 8B, member 3 1154 ATP biosynthetic process ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 23 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) TCATGATGGCGTAGAAACCAA 0.597000 5 8 0 0 1 0 0 BCOR 54880 broad.mit.edu 37 X 39933843 39933843 + Nonsense_Mutation SNP G G T TCGA-DU-6403-01A-11D-1705-08 TCGA-DU-6403-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d48a626-5f15-4f2d-8ca9-947b7d39146a 1ae82b76-b781-4d6e-a0da-ba341056fe11 g.chrX:39933843G>T ENST00000342274.4 - 4 1118 c.756C>A c.(754-756)taC>taA p.Y252* BCOR_ENST00000378455.4_Nonsense_Mutation_p.Y252*|BCOR_ENST00000378444.4_Nonsense_Mutation_p.Y252*|BCOR_ENST00000397354.3_Nonsense_Mutation_p.Y252* NM_001123383.1 NP_001116855.1 Q6W2J9 BCOR_HUMAN BCL6 corepressor 252 heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent nucleus heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 126 GGGGACCGACGTAGTGAGGTG 0.607000 """F, N, S, T""" RARA """retinoblastoma, AML, APL(translocation)""" oculo-facio-cardio-dental genetic 7 20 0.00198382 0.00200744 1 1 0 TLR6 10333 broad.mit.edu 37 4 38830190 38830190 + Missense_Mutation SNP G G A TCGA-DU-6403-01A-11D-1705-08 TCGA-DU-6403-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d48a626-5f15-4f2d-8ca9-947b7d39146a 1ae82b76-b781-4d6e-a0da-ba341056fe11 g.chr4:38830190G>A ENST00000436693.2 - 2 1024 c.905C>T c.(904-906)aCg>aTg p.T302M TLR6_ENST00000381950.1_Missense_Mutation_p.T302M NM_006068.4 NP_006059.2 Q9Y2C9 TLR6_HUMAN toll-like receptor 6 302 activation of NF-kappaB-inducing kinase activity|cellular response to diacyl bacterial lipopeptide|defense response to bacterium|detection of diacyl bacterial lipopeptide|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-6 biosynthetic process|positive regulation of JUN kinase activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway integral to plasma membrane|phagocytic vesicle membrane lipopeptide binding|transmembrane receptor activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 TTTCAATGTCGTTTTAGAATA 0.323000 11 24 0 0 1 0 0 GRHL2 79977 broad.mit.edu 37 8 102585973 102585973 + Missense_Mutation SNP A A G TCGA-DU-6403-01A-11D-1705-08 TCGA-DU-6403-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d48a626-5f15-4f2d-8ca9-947b7d39146a 1ae82b76-b781-4d6e-a0da-ba341056fe11 g.chr8:102585973A>G ENST00000251808.3 + 6 1150 c.812A>G c.(811-813)aAc>aGc p.N271S GRHL2_ENST00000395927.1_Missense_Mutation_p.N255S NM_024915.3 NP_079191.2 Q6ISB3 GRHL2_HUMAN grainyhead-like 2 (Drosophila) 271 cytoplasm|nucleus DNA binding breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 all_cancers(14;4.39e-08)|all_epithelial(15;4.09e-10)|Lung NSC(17;7.11e-06)|all_lung(17;1.44e-05) Epithelial(11;5.81e-09)|all cancers(13;3.81e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000213) ACCTACCTCAACAAAGGACAG 0.522000 16 28 0 0 1 0 0 WDR63 126820 broad.mit.edu 37 1 85546977 85546977 + Missense_Mutation SNP G G T TCGA-DU-6403-01A-11D-1705-08 TCGA-DU-6403-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d48a626-5f15-4f2d-8ca9-947b7d39146a 1ae82b76-b781-4d6e-a0da-ba341056fe11 g.chr1:85546977G>T ENST00000294664.6 + 4 344 c.164G>T c.(163-165)cGa>cTa p.R55L WDR63_ENST00000370596.1_Missense_Mutation_p.R55L|WDR63_ENST00000326813.8_Missense_Mutation_p.R55L NM_145172.3 NP_660155.2 Q8IWG1 WDR63_HUMAN WD repeat domain 63 55 NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(3) 36 all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166) TTTAACTGCCGAATAGATGAA 0.368000 42 66 4.32679e-17 4.9037e-17 1 1 0 NPC1 4864 broad.mit.edu 37 18 21115459 21115459 + Missense_Mutation SNP C C T TCGA-DU-6403-01A-11D-1705-08 TCGA-DU-6403-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d48a626-5f15-4f2d-8ca9-947b7d39146a 1ae82b76-b781-4d6e-a0da-ba341056fe11 g.chr18:21115459C>T ENST00000269228.5 - 22 4005 c.3451G>A c.(3451-3453)Gct>Act p.A1151T NPC1_ENST00000412552.2_Missense_Mutation_p.A833T NM_000271.4 NP_000262.2 O15118 NPC1_HUMAN Niemann-Pick disease, type C1 1151 autophagy|bile acid metabolic process|cholesterol efflux|cholesterol homeostasis|lysosomal transport endoplasmic reticulum|integral to plasma membrane|late endosome membrane|lysosomal membrane|nuclear envelope|perinuclear region of cytoplasm hedgehog receptor activity|protein binding|sterol transporter activity breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(10)|lung(13)|ovary(2)|stomach(1) 38 all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127) AAGGATACAGCGTTCAGACTG 0.512000 3 11 0 0 1 0 0 HRNR 388697 broad.mit.edu 37 1 152192866 152192866 + Silent SNP G G A TCGA-DU-6403-01A-11D-1705-08 TCGA-DU-6403-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d48a626-5f15-4f2d-8ca9-947b7d39146a 1ae82b76-b781-4d6e-a0da-ba341056fe11 g.chr1:152192866G>A ENST00000368801.2 - 3 1314 c.1239C>T c.(1237-1239)cgC>cgT p.R413R FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA NM_001009931.1 NP_001009931.1 Q86YZ3 HORN_HUMAN hornerin 413 keratinization calcium ion binding|protein binding autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6) 192 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TGTGTTGGCCGCGGCCTGAAG 0.632000 6 20 0 0 1 0 0 COL6A3 1293 broad.mit.edu 37 2 238277603 238277603 + Silent SNP G G A rs115551245 by1000genomes TCGA-DU-6403-01A-11D-1705-08 TCGA-DU-6403-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d48a626-5f15-4f2d-8ca9-947b7d39146a 1ae82b76-b781-4d6e-a0da-ba341056fe11 g.chr2:238277603G>A ENST00000295550.4 - 10 4955 c.4503C>T c.(4501-4503)gaC>gaT p.D1501D COL6A3_ENST00000347401.3_Silent_p.D1300D|COL6A3_ENST00000472056.1_Silent_p.D894D|COL6A3_ENST00000409809.1_Silent_p.D1295D|COL6A3_ENST00000346358.4_Silent_p.D1301D|COL6A3_ENST00000353578.4_Silent_p.D1295D NM_004369.3 NP_004360.2 P12111 CO6A3_HUMAN collagen, type VI, alpha 3 1501 Nonhelical region.|VWFA 8. axon guidance|cell adhesion|muscle organ development collagen type VI|extracellular space serine-type endopeptidase inhibitor activity breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4) 217 Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203) Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034) GCCGTATGGCGTCCAGCACCG 0.557000 17 24 0 0 1 0 0 MUC4 4585 broad.mit.edu 37 3 195505836 195505836 + Missense_Mutation SNP G G C TCGA-DU-6403-01A-11D-1705-08 TCGA-DU-6403-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d48a626-5f15-4f2d-8ca9-947b7d39146a 1ae82b76-b781-4d6e-a0da-ba341056fe11 g.chr3:195505836G>C ENST00000463781.3 - 2 13074 c.12615C>G c.(12613-12615)caC>caG p.H4205Q MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.H4205Q NM_018406.6 NP_060876.5 Q99102 MUC4_HUMAN mucin 4, cell surface associated 968 cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity p.H4205Q(10) NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) GAGGGGTGGCGTGACCTGTGG 0.597000 2 2 0 0 1 0 0 KRT31 3881 broad.mit.edu 37 17 39553754 39553754 + Missense_Mutation SNP C C T TCGA-DU-6403-01A-11D-1705-08 TCGA-DU-6403-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d48a626-5f15-4f2d-8ca9-947b7d39146a 1ae82b76-b781-4d6e-a0da-ba341056fe11 g.chr17:39553754C>T ENST00000251645.2 - 1 90 c.38G>A c.(37-39)cGc>cAc p.R13H NM_002277.2 NP_002268.2 Q15323 K1H1_HUMAN keratin 31 13 Head. epidermis development intermediate filament protein binding|structural constituent of cytoskeleton breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1) 31 Breast(137;0.000496) GCAGCTGGTGCGGCAGCTCAG 0.647000 8 21 0 0 1 0 0 EPHB6 0 broad.mit.edu 37 7 142563850 142563850 + Missense_Mutation SNP G G T TCGA-DU-6403-01A-11D-1705-08 TCGA-DU-6403-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d48a626-5f15-4f2d-8ca9-947b7d39146a 1ae82b76-b781-4d6e-a0da-ba341056fe11 g.chr7:142563850G>T ENST00000392957.2 + 9 2025 c.1238G>T c.(1237-1239)cGc>cTc p.R413L EPHB6_ENST00000411471.2_Missense_Mutation_p.R136L|EPHB6_ENST00000442129.1_Missense_Mutation_p.R413L NM_004445.3 NP_004436.2 O15197 EPHB6_HUMAN EPH receptor B6 413 Fibronectin type-III 1. extracellular region|integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1) 87 Melanoma(164;0.059) TGTGAAGGCCGCCAGGAACCT 0.637000 7 6 8.12818e-05 8.32404e-05 1 1 0 MYOCD 93649 broad.mit.edu 37 17 12620681 12620681 + Missense_Mutation SNP C C T TCGA-DU-6403-01A-11D-1705-08 TCGA-DU-6403-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d48a626-5f15-4f2d-8ca9-947b7d39146a 1ae82b76-b781-4d6e-a0da-ba341056fe11 g.chr17:12620681C>T ENST00000425538.1 + 4 396 c.196C>T c.(196-198)Cgc>Tgc p.R66C MYOCD_ENST00000343344.4_Missense_Mutation_p.R66C|RP11-746E8.1_ENST00000578952.1_lincRNA NM_001146312.1|NM_153604.2 NP_001139784.1|NP_705832.1 Q8IZQ8 MYCD_HUMAN myocardin 66 cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation nucleus nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 70 UCEC - Uterine corpus endometrioid carcinoma (92;0.0969) TTCCCTGAAGCGCAAAGCCAG 0.398000 6 14 0 0 1 0 0 MAP3K19 80122 broad.mit.edu 37 2 135744115 135744115 + Missense_Mutation SNP A A T TCGA-DU-6403-01A-11D-1705-08 TCGA-DU-6403-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d48a626-5f15-4f2d-8ca9-947b7d39146a 1ae82b76-b781-4d6e-a0da-ba341056fe11 g.chr2:135744115A>T ENST00000375845.3 - 7 2357 c.2327T>A c.(2326-2328)tTt>tAt p.F776Y MAP3K19_ENST00000375844.3_Intron|MAP3K19_ENST00000392915.1_Missense_Mutation_p.F793Y|MAP3K19_ENST00000392917.3_Intron|MAP3K19_ENST00000358371.4_Missense_Mutation_p.F663Y|MAP3K19_ENST00000315513.3_5'UTR|MAP3K19_ENST00000392918.3_Intron NM_025052.3 NP_079328.3 mitogen-activated protein kinase kinase kinase 19 GGAAGATAGAAACTCATTTCC 0.403000 4 80 0 0 1 0 0 SPATA8 145946 broad.mit.edu 37 15 97328356 97328356 + Nonstop_Mutation SNP T T A TCGA-DU-6403-01A-11D-1705-08 TCGA-DU-6403-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d48a626-5f15-4f2d-8ca9-947b7d39146a 1ae82b76-b781-4d6e-a0da-ba341056fe11 g.chr15:97328356T>A ENST00000558553.1 + 3 354 c.205T>A c.(205-207)Tag>Aag p.*69K SPATA8_ENST00000328504.3_3'UTR Q6RVD6 SPAT8_HUMAN spermatogenesis associated 8 0 large_intestine(4)|lung(8)|ovary(1)|skin(3) 16 Melanoma(26;0.0142)|Lung NSC(78;0.041)|all_lung(78;0.0468) OV - Ovarian serous cystadenocarcinoma(32;0.0718) GATTTTTCAATAGTGTCCCTA 0.483000 24 64 0 0 1 0 0 PSD4 23550 broad.mit.edu 37 2 113950108 113950108 + Missense_Mutation SNP C C T rs117870995 by1000genomes TCGA-DU-6403-01A-11D-1705-08 TCGA-DU-6403-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d48a626-5f15-4f2d-8ca9-947b7d39146a 1ae82b76-b781-4d6e-a0da-ba341056fe11 g.chr2:113950108C>T ENST00000245796.6 + 6 1975 c.1780C>T c.(1780-1782)Cgc>Tgc p.R594C PSD4_ENST00000441564.2_Missense_Mutation_p.R566C NM_012455.2 NP_036587.2 Q8NDX1 PSD4_HUMAN pleckstrin and Sec7 domain containing 4 594 SEC7. regulation of ARF protein signal transduction cytoplasm|plasma membrane ARF guanyl-nucleotide exchange factor activity p.R594C(1) cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 CTTGGCCTCACGCCTCTATCG 0.597000 23 47 0 0 1 0 0 AFF2 2334 broad.mit.edu 37 X 148069037 148069037 + Missense_Mutation SNP G G T TCGA-DU-6403-01A-11D-1705-08 TCGA-DU-6403-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d48a626-5f15-4f2d-8ca9-947b7d39146a 1ae82b76-b781-4d6e-a0da-ba341056fe11 g.chrX:148069037G>T ENST00000370460.2 + 20 4243 c.3764G>T c.(3763-3765)cGg>cTg p.R1255L AFF2_ENST00000342251.3_Missense_Mutation_p.R1222L|AFF2_ENST00000370457.5_Missense_Mutation_p.R1220L|AFF2_ENST00000286437.5_Missense_Mutation_p.R896L NM_001169123.1|NM_002025.3 NP_001162594.1|NP_002016.2 P51816 AFF2_HUMAN AF4/FMR2 family, member 2 1255 brain development|mRNA processing|regulation of RNA splicing|RNA splicing nuclear speck G-quadruplex RNA binding|protein binding breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 109 Acute lymphoblastic leukemia(192;6.56e-05) AATGTGTTACGGGGCTATGAA 0.483000 38 87 4.17593e-13 4.5507e-13 1 1 0 OR2A5 393046 broad.mit.edu 37 7 143747664 143747664 + Missense_Mutation SNP C C A TCGA-DU-6403-01A-11D-1705-08 TCGA-DU-6403-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d48a626-5f15-4f2d-8ca9-947b7d39146a 1ae82b76-b781-4d6e-a0da-ba341056fe11 g.chr7:143747664C>A ENST00000408906.2 + 1 204 c.170C>A c.(169-171)cCc>cAc p.P57H NM_012365.1 NP_036497.1 Q96R48 OR2A5_HUMAN olfactory receptor, family 2, subfamily A, member 5 57 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(3)|large_intestine(5)|lung(23)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 38 Melanoma(164;0.0783) CTGCACACCCCCATGTACTTC 0.502000 42 73 7.63091e-17 8.53457e-17 1 1 0 SI 6476 broad.mit.edu 37 3 164730794 164730794 + Missense_Mutation SNP T T C TCGA-DU-6403-01A-11D-1705-08 TCGA-DU-6403-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d48a626-5f15-4f2d-8ca9-947b7d39146a 1ae82b76-b781-4d6e-a0da-ba341056fe11 g.chr3:164730794T>C ENST00000264382.3 - 34 4098 c.4036A>G c.(4036-4038)Act>Gct p.T1346A NM_001041.3 NP_001032.2 P14410 SUIS_HUMAN sucrase-isomaltase (alpha-glucosidase) 1346 Sucrase. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|brush border|Golgi apparatus|integral to membrane carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1) 218 Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199) Acarbose(DB00284) TCCGTTAGAGTTTTATCTATT 0.328000 HNSCC(35;0.089) 23 68 0 0 1 0 0 PCDHGB4 0 broad.mit.edu 37 5 140769049 140769049 + Missense_Mutation SNP G G A TCGA-DU-6403-01A-11D-1705-08 TCGA-DU-6403-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d48a626-5f15-4f2d-8ca9-947b7d39146a 1ae82b76-b781-4d6e-a0da-ba341056fe11 g.chr5:140769049G>A ENST00000519479.1 + 1 1598 c.1598G>A c.(1597-1599)cGc>cAc p.R533H PCDHGB3_ENST00000576222.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron NM_003736.2|NM_018925.2|NM_032098.1 NP_003727.1|NP_061748.1|NP_115269.1 endometrium(9)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(2) 37 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTGCAGGCCCGCGACCAGGGC 0.677000 20 15 0 0 1 0 0 PCDH19 57526 broad.mit.edu 37 X 99662058 99662058 + Missense_Mutation SNP C C A TCGA-DU-6403-01A-11D-1705-08 TCGA-DU-6403-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d48a626-5f15-4f2d-8ca9-947b7d39146a 1ae82b76-b781-4d6e-a0da-ba341056fe11 g.chrX:99662058C>A ENST00000373034.4 - 1 3213 c.1538G>T c.(1537-1539)gGc>gTc p.G513V PCDH19_ENST00000255531.7_Missense_Mutation_p.G513V|PCDH19_ENST00000420881.2_Missense_Mutation_p.G513V NM_001184880.1 NP_001171809.1 Q8TAB3 PCD19_HUMAN protocadherin 19 513 Cadherin 5. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 68 GTAGATGTCGCCTGAGTTGGG 0.587000 39 60 8.73648e-17 9.64417e-17 1 1 0 ESAM 90952 broad.mit.edu 37 11 124624651 124624651 + Missense_Mutation SNP G G A TCGA-DU-6403-01A-11D-1705-08 TCGA-DU-6403-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d48a626-5f15-4f2d-8ca9-947b7d39146a 1ae82b76-b781-4d6e-a0da-ba341056fe11 g.chr11:124624651G>A ENST00000278927.5 - 5 745 c.616C>T c.(616-618)Cgt>Tgt p.R206C ESAM_ENST00000442070.2_Missense_Mutation_p.R27C NM_138961.2 NP_620411.2 Q96AP7 ESAM_HUMAN endothelial cell adhesion molecule 206 Ig-like C2-type. blood coagulation|leukocyte migration adherens junction|integral to membrane|tight junction endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 16 all_hematologic(175;0.215) Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.022) AAAGACCCACGGATGACATCT 0.478000 30 63 0 0 1 0 0 CYP4F3 4051 broad.mit.edu 37 19 15770103 15770103 + Missense_Mutation SNP G G A TCGA-DU-6403-01A-11D-1705-08 TCGA-DU-6403-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d48a626-5f15-4f2d-8ca9-947b7d39146a 1ae82b76-b781-4d6e-a0da-ba341056fe11 g.chr19:15770103G>A ENST00000221307.7 + 13 1519 c.1471G>A c.(1471-1473)Gtc>Atc p.V491I CYP4F3_ENST00000585846.1_Missense_Mutation_p.V491I|CYP4F3_ENST00000586182.1_Missense_Mutation_p.V491I|CYP4F3_ENST00000591058.1_Missense_Mutation_p.V491I NM_000896.2 NP_000887.2 Q08477 CP4F3_HUMAN cytochrome P450, family 4, subfamily F, polypeptide 3 491 leukotriene metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding p.V491L(1) endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1) 34 GCGCTTCCGCGTCCTGCCTGA 0.672000 9 19 0 0 1 0 0 SENP5 205564 broad.mit.edu 37 3 196654715 196654715 + Missense_Mutation SNP G G A TCGA-DU-6403-01A-11D-1705-08 TCGA-DU-6403-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d48a626-5f15-4f2d-8ca9-947b7d39146a 1ae82b76-b781-4d6e-a0da-ba341056fe11 g.chr3:196654715G>A ENST00000323460.5 + 8 2320 c.2071G>A c.(2071-2073)Gaa>Aaa p.E691K SENP5_ENST00000445299.2_Missense_Mutation_p.E645K|SENP5_ENST00000419026.1_Missense_Mutation_p.E181K NM_152699.4 NP_689912.2 Q96HI0 SENP5_HUMAN SUMO1/sentrin specific peptidase 5 691 Protease. cell cycle|cell division|proteolysis nucleolus cysteine-type peptidase activity NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(14)|skin(1) 32 all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135) Epithelial(36;3.14e-24)|all cancers(36;2.1e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.004) AAATAGACCTGAATTTCTTCA 0.413000 23 22 0 0 1 0 0 TSC1 0 broad.mit.edu 37 9 135798758 135798758 + Missense_Mutation SNP G G A TCGA-DU-6403-01A-11D-1705-08 TCGA-DU-6403-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d48a626-5f15-4f2d-8ca9-947b7d39146a 1ae82b76-b781-4d6e-a0da-ba341056fe11 g.chr9:135798758G>A ENST00000298552.3 - 6 706 c.485C>T c.(484-486)tCa>tTa p.S162L TSC1_ENST00000403810.1_Missense_Mutation_p.S162L|TSC1_ENST00000440111.2_Missense_Mutation_p.S162L|TSC1_ENST00000475903.1_5'UTR|TSC1_ENST00000545250.1_Missense_Mutation_p.S111L NM_000368.4|NM_001162426.1|NM_001162427.1 NP_000359.1|NP_001155898.1|NP_001155899.1 Q92574 TSC1_HUMAN tuberous sclerosis 1 162 activation of Rho GTPase activity|cell cycle arrest|cell-matrix adhesion|insulin receptor signaling pathway|negative regulation of cell proliferation|negative regulation of protein ubiquitination|negative regulation of TOR signaling cascade|negative regulation of translation|positive regulation of focal adhesion assembly|regulation of phosphoprotein phosphatase activity|regulation of stress fiber assembly|rRNA export from nucleus cell cortex|lamellipodium|membrane|TSC1-TSC2 complex chaperone binding|protein N-terminus binding NS(1)|bone(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(9)|lung(20)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 65 OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06) GCACCATGATGACAGACGGCC 0.433000 """D, Mis, N, F, S""" """hamartoma, renal cell""" Tuberous Sclerosis 15 33 0 0 1 0 0 COL17A1 1308 broad.mit.edu 37 10 105793848 105793848 + Silent SNP A A G rs147001132 byFrequency TCGA-DU-6403-01A-11D-1705-08 TCGA-DU-6403-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d48a626-5f15-4f2d-8ca9-947b7d39146a 1ae82b76-b781-4d6e-a0da-ba341056fe11 g.chr10:105793848A>G ENST00000353479.5 - 52 4301 c.4011T>C c.(4009-4011)taT>taC p.Y1337Y COL17A1_ENST00000369733.3_Silent_p.Y1255Y NM_000494.3 NP_000485.3 Q9UMD9 COHA1_HUMAN collagen, type XVII, alpha 1 1337 Triple-helical region. cell-matrix adhesion|epidermis development|hemidesmosome assembly basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane protein binding NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1) 62 Colorectal(252;0.103)|Breast(234;0.122) Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165) TGTCAGTGCCATAGGGACCCC 0.617000 4 5 0 0 1 0 0 WBSCR17 64409 broad.mit.edu 37 7 70597851 70597851 + Silent SNP C C T TCGA-DU-6403-01A-11D-1705-08 TCGA-DU-6403-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d48a626-5f15-4f2d-8ca9-947b7d39146a 1ae82b76-b781-4d6e-a0da-ba341056fe11 g.chr7:70597851C>T ENST00000333538.5 + 1 697 c.63C>T c.(61-63)ttC>ttT p.F21F NM_022479.1 NP_071924.1 Q6IS24 GLTL3_HUMAN Williams-Beuren syndrome chromosome region 17 21 Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 100 all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125) TAGCCGGCTTCGTGCTCTTCC 0.672000 3 19 0 0 1 0 0 FLG 2312 broad.mit.edu 37 1 152279767 152279767 + Missense_Mutation SNP G G A TCGA-DU-6403-01A-11D-1705-08 TCGA-DU-6403-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d48a626-5f15-4f2d-8ca9-947b7d39146a 1ae82b76-b781-4d6e-a0da-ba341056fe11 g.chr1:152279767G>A ENST00000368799.1 - 3 7630 c.7595C>T c.(7594-7596)tCg>tTg p.S2532L FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 2532 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) ATGGTGACGCGACCCTGAGTG 0.597000 Ichthyosis 103 219 0 0 1 0 0 PDE11A 50940 broad.mit.edu 37 2 178936632 178936632 + Missense_Mutation SNP G G A TCGA-DU-6403-01A-11D-1705-08 TCGA-DU-6403-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d48a626-5f15-4f2d-8ca9-947b7d39146a 1ae82b76-b781-4d6e-a0da-ba341056fe11 g.chr2:178936632G>A ENST00000286063.5 - 1 850 c.533C>T c.(532-534)tCg>tTg p.S178L PDE11A_ENST00000358450.4_Intron NM_016953.3 NP_058649.3 Q9HCR9 PDE11_HUMAN phosphodiesterase 11A 178 platelet activation|signal transduction cytosol 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3) 58 OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02) ATTCACTCTCGATTCCAGCAG 0.537000 Primary Pigmented Nodular Adrenocortical Disease, Familial 35 63 0 0 1 0 0 RAPGEF6 51735 broad.mit.edu 37 5 130766884 130766884 + Missense_Mutation SNP C C T TCGA-DU-6403-01A-11D-1705-08 TCGA-DU-6403-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d48a626-5f15-4f2d-8ca9-947b7d39146a 1ae82b76-b781-4d6e-a0da-ba341056fe11 g.chr5:130766884C>T ENST00000509018.1 - 26 4338 c.4133G>A c.(4132-4134)aGc>aAc p.S1378N RAPGEF6_ENST00000296859.6_Missense_Mutation_p.S1386N|FNIP1_ENST00000514667.1_Missense_Mutation_p.S1428N|RAPGEF6_ENST00000507093.1_Missense_Mutation_p.S1386N|RAPGEF6_ENST00000307984.5_Missense_Mutation_p.S1391N NM_001164386.1|NM_016340.5 NP_001157858.1|NP_057424.3 Q8TEU7 RPGF6_HUMAN Rap guanine nucleotide exchange factor (GEF) 6 1378 Ser-rich. Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction cytoplasm|plasma membrane GTP-dependent protein binding|guanyl-nucleotide exchange factor activity|Ras GTPase binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1) 31 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) Lung(113;0.0721) GTTTGGAAGGCTTTGGAAGTT 0.443000 21 63 0 0 1 0 0 NOBOX 135935 broad.mit.edu 37 7 144096876 144096876 + Silent SNP G G A TCGA-DU-6403-01A-11D-1705-08 TCGA-DU-6403-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d48a626-5f15-4f2d-8ca9-947b7d39146a 1ae82b76-b781-4d6e-a0da-ba341056fe11 g.chr7:144096876G>A ENST00000467773.1 - 6 1127 c.1128C>T c.(1126-1128)gcC>gcT p.A376A NOBOX_ENST00000483238.1_Silent_p.A344A|NOBOX_ENST00000223140.5_Silent_p.A259A NM_001080413.3 NP_001073882.3 O60393 NOBOX_HUMAN NOBOX oogenesis homeobox 376 cell differentiation|oogenesis nucleus sequence-specific DNA binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1) 26 Melanoma(164;0.14) CAGGGCCAGGGGCTGCAGGAT 0.537000 3 17 0 0 1 0 0 LBH 81606 broad.mit.edu 37 2 30457270 30457270 + Splice_Site SNP G G T TCGA-DU-6403-01A-11D-1705-08 TCGA-DU-6403-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d48a626-5f15-4f2d-8ca9-947b7d39146a 1ae82b76-b781-4d6e-a0da-ba341056fe11 g.chr2:30457270G>T ENST00000395323.3 + 2 234 c.e2-1 LBH_ENST00000407930.2_Splice_Site|LBH_ENST00000404397.1_Splice_Site|LBH_ENST00000401506.1_Splice_Site|LBH_ENST00000406087.1_Splice_Site|LBH_ENST00000467242.1_Splice_Site NM_030915.3 NP_112177.2 Q53QV2 LBH_HUMAN limb bud and heart development multicellular organismal development|transcription, DNA-dependent cytoplasm|nucleolus endometrium(2)|large_intestine(1)|lung(2) 5 Acute lymphoblastic leukemia(172;0.155) TTTCTTGGCAGCCCCGACTAT 0.542000 21 42 2.21704e-12 2.38542e-12 1 1 0 KRTAP4-8 728224 broad.mit.edu 37 17 39254054 39254054 + Missense_Mutation SNP A A T rs76270529 by1000genomes TCGA-DU-6403-01A-11D-1705-08 TCGA-DU-6403-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d48a626-5f15-4f2d-8ca9-947b7d39146a 1ae82b76-b781-4d6e-a0da-ba341056fe11 g.chr17:39254054A>T ENST00000333822.4 - 1 339 c.283T>A c.(283-285)Tgc>Agc p.C95S NM_031960.2 NP_114166.1 Q9BYQ9 KRA48_HUMAN keratin associated protein 4-8 95 25 X 5 AA repeats of C-C-[IKRQVHEC]- [SPRT]-[STCVQPR]. keratin filament p.C95S(4) endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1) 11 ctggagatgcagcagcTAGGG 0.677000 5 26 0 0 1 0 0 PHKA2 5256 broad.mit.edu 37 X 18912471 18912471 + Missense_Mutation SNP G G C TCGA-DU-6403-01A-11D-1705-08 TCGA-DU-6403-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d48a626-5f15-4f2d-8ca9-947b7d39146a 1ae82b76-b781-4d6e-a0da-ba341056fe11 g.chrX:18912471G>C ENST00000379942.4 - 32 4053 c.3388C>G c.(3388-3390)Cgc>Ggc p.R1130G PHKA2-AS1_ENST00000439295.1_RNA|PHKA2_ENST00000481718.1_5'UTR NM_000292.2 NP_000283.1 P46019 KPB2_HUMAN phosphorylase kinase, alpha 2 (liver) 1130 glucose metabolic process|glycogen catabolic process cytosol|phosphorylase kinase complex|plasma membrane calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity p.R1130C(1) NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 61 Hepatocellular(33;0.183) TGCGGCACGCGGTTCAGCACC 0.602000 18 34 0 0 1 0 0 PKHD1 5314 broad.mit.edu 37 6 51889804 51889804 + Missense_Mutation SNP T T G TCGA-DU-6403-01A-11D-1705-08 TCGA-DU-6403-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d48a626-5f15-4f2d-8ca9-947b7d39146a 1ae82b76-b781-4d6e-a0da-ba341056fe11 g.chr6:51889804T>G ENST00000371117.3 - 32 5079 c.4804A>C c.(4804-4806)Aac>Cac p.N1602H PKHD1_ENST00000340994.4_Missense_Mutation_p.N1602H NM_138694.3 NP_619639.3 P08F94 PKHD1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive) 1602 IPT/TIG 11. cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body protein binding|receptor activity NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5) 304 Lung NSC(77;0.0605) GACGTGGTGTTCTGTCCTCTC 0.498000 28 65 0 0 1 0 0 BCOR 54880 broad.mit.edu 37 X 39933842 39933842 + Missense_Mutation SNP C C T TCGA-DU-6403-01A-11D-1705-08 TCGA-DU-6403-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d48a626-5f15-4f2d-8ca9-947b7d39146a 1ae82b76-b781-4d6e-a0da-ba341056fe11 g.chrX:39933842C>T ENST00000342274.4 - 4 1119 c.757G>A c.(757-759)Gtc>Atc p.V253I BCOR_ENST00000378455.4_Missense_Mutation_p.V253I|BCOR_ENST00000378444.4_Missense_Mutation_p.V253I|BCOR_ENST00000397354.3_Missense_Mutation_p.V253I NM_001123383.1 NP_001116855.1 Q6W2J9 BCOR_HUMAN BCL6 corepressor 253 heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent nucleus heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 126 TGGGGACCGACGTAGTGAGGT 0.612000 """F, N, S, T""" RARA """retinoblastoma, AML, APL(translocation)""" oculo-facio-cardio-dental genetic 7 20 0 0 1 0 0 PCLO 27445 broad.mit.edu 37 7 82785657 82785657 + Silent SNP C C T TCGA-DU-6403-01A-11D-1705-08 TCGA-DU-6403-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d48a626-5f15-4f2d-8ca9-947b7d39146a 1ae82b76-b781-4d6e-a0da-ba341056fe11 g.chr7:82785657C>T ENST00000423517.2 - 2 637 c.300G>A c.(298-300)ccG>ccA p.P100P PCLO_ENST00000333891.8_Silent_p.P100P NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 100 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 GCCCAGGGTCCGGGGGTCTTC 0.418000 15 36 0 0 1 0 0 HGF 3082 broad.mit.edu 37 7 81339500 81339500 + Nonsense_Mutation SNP G G A TCGA-DU-6403-01A-11D-1705-08 TCGA-DU-6403-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d48a626-5f15-4f2d-8ca9-947b7d39146a 1ae82b76-b781-4d6e-a0da-ba341056fe11 g.chr7:81339500G>A ENST00000222390.5 - 13 1730 c.1504C>T c.(1504-1506)Cga>Tga p.R502* HGF_ENST00000457544.2_Nonsense_Mutation_p.R497* NM_000601.4 NP_000592.3 P14210 HGF_HUMAN hepatocyte growth factor (hepapoietin A; scatter factor) 502 Peptidase S1. epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling platelet alpha granule lumen growth factor activity|serine-type endopeptidase activity NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1) 75 ATGTTTGTTCGTGTTGGAATC 0.348000 15 74 0 0 1 0 0 CHN2 1124 broad.mit.edu 37 7 29535576 29535576 + Silent SNP G G A TCGA-DU-6403-01A-11D-1705-08 TCGA-DU-6403-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d48a626-5f15-4f2d-8ca9-947b7d39146a 1ae82b76-b781-4d6e-a0da-ba341056fe11 g.chr7:29535576G>A ENST00000222792.6 + 8 1193 c.663G>A c.(661-663)acG>acA p.T221T CHN2_ENST00000439711.2_Silent_p.T85T|CHN2_ENST00000546235.1_Silent_p.T206T|CHN2_ENST00000539406.1_Silent_p.T296T|CHN2_ENST00000409041.4_Silent_p.T85T|CHN2_ENST00000410098.1_3'UTR|CHN2_ENST00000495789.2_Silent_p.T234T|CHN2_ENST00000435288.2_Intron|CHN2_ENST00000539389.1_Silent_p.T77T|CHN2_ENST00000421775.2_Silent_p.T85T|CHN2_ENST00000424025.2_Silent_p.T40T NM_004067.2 NP_004058.1 P52757 CHIO_HUMAN chimerin 2 221 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|membrane GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity breast(2)|endometrium(3)|large_intestine(2)|lung(12)|ovary(2)|urinary_tract(2) 23 AGGTCCACACGTTCCGAGGCC 0.483000 28 47 0 0 1 0 0 NDST3 9348 broad.mit.edu 37 4 119064828 119064828 + Missense_Mutation SNP G G A TCGA-DU-6403-01A-11D-1705-08 TCGA-DU-6403-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d48a626-5f15-4f2d-8ca9-947b7d39146a 1ae82b76-b781-4d6e-a0da-ba341056fe11 g.chr4:119064828G>A ENST00000296499.5 + 6 1931 c.1528G>A c.(1528-1530)Gtc>Atc p.V510I NDST3_ENST00000433996.2_Missense_Mutation_p.V429I NM_004784.2 NP_004775.1 O95803 NDST3_HUMAN N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3 510 Heparan sulfate N-deacetylase 3. Golgi membrane|integral to membrane [heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 54 CTTCACTGTCGTCCTCAACCC 0.428000 15 32 0 0 1 0 0 PRCP 5547 broad.mit.edu 37 11 82571020 82571020 + Splice_Site SNP G G A TCGA-DU-6403-01A-11D-1705-08 TCGA-DU-6403-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d48a626-5f15-4f2d-8ca9-947b7d39146a 1ae82b76-b781-4d6e-a0da-ba341056fe11 g.chr11:82571020G>A ENST00000313010.3 - 2 502 c.309_splice c.e2+1 p.T103_splice PRCP_ENST00000535099.1_Intron|PRCP_ENST00000393399.2_Splice_Site_p.T124_splice NM_005040.2 NP_005031.1 P42785 PCP_HUMAN prolylcarboxypeptidase (angiotensinase C) 103 blood coagulation, intrinsic pathway|proteolysis lysosome|plasma membrane protein binding|serine-type carboxypeptidase activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)|urinary_tract(1) 17 TGCACATACCGTGTTATTACA 0.353000 8 31 0 0 1 0 0 PRSS12 8492 broad.mit.edu 37 4 119216148 119216148 + Missense_Mutation SNP C C T TCGA-DU-6403-01A-11D-1705-08 TCGA-DU-6403-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d48a626-5f15-4f2d-8ca9-947b7d39146a 1ae82b76-b781-4d6e-a0da-ba341056fe11 g.chr4:119216148C>T ENST00000296498.3 - 11 2267 c.1985G>A c.(1984-1986)gGg>gAg p.G662E PRSS12_ENST00000510903.1_Intron NM_003619.3 NP_003610.2 P56730 NETR_HUMAN protease, serine, 12 (neurotrypsin, motopsin) 662 Peptidase S1. membrane scavenger receptor activity endometrium(3)|kidney(1)|large_intestine(9)|lung(11)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1) 29 GAGCGTAGCCCCGCAGAGGAG 0.532000 12 17 0 0 1 0 0 L1CAM 3897 broad.mit.edu 37 X 153133300 153133300 + Missense_Mutation SNP G G A TCGA-DU-6403-01A-11D-1705-08 TCGA-DU-6403-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d48a626-5f15-4f2d-8ca9-947b7d39146a 1ae82b76-b781-4d6e-a0da-ba341056fe11 g.chrX:153133300G>A ENST00000370060.1 - 16 2083 c.1894C>T c.(1894-1896)Cgc>Tgc p.R632C L1CAM_ENST00000543994.1_Missense_Mutation_p.R634C|L1CAM_ENST00000538883.1_Missense_Mutation_p.R634C|L1CAM_ENST00000361981.3_Missense_Mutation_p.R627C|L1CAM_ENST00000361699.4_Missense_Mutation_p.R632C|L1CAM_ENST00000370057.3_Missense_Mutation_p.R632C|L1CAM_ENST00000370055.1_Missense_Mutation_p.R627C NM_001278116.1 NP_001265045.1 P32004 L1CAM_HUMAN L1 cell adhesion molecule 632 Fibronectin type-III 1. R -> P (in MASA). axon guidance|blood coagulation|cell death|leukocyte migration integral to membrane p.R632S(1) NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 81 all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05) CAGGACACGCGCACCTGGCTC 0.667000 25 62 0 0 1 0 0 ABCF2 10061 broad.mit.edu 37 7 150921894 150921894 + Missense_Mutation SNP C C T TCGA-DU-6403-01A-11D-1705-08 TCGA-DU-6403-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d48a626-5f15-4f2d-8ca9-947b7d39146a 1ae82b76-b781-4d6e-a0da-ba341056fe11 g.chr7:150921894C>T ENST00000287844.2 - 3 444 c.335G>A c.(334-336)cGt>cAt p.R112H ABCF2_ENST00000222388.2_Missense_Mutation_p.R112H NM_007189.1 NP_009120.1 Q9UG63 ABCF2_HUMAN ATP-binding cassette, sub-family F (GCN20), member 2 112 ABC transporter 1. ATP-binding cassette (ABC) transporter complex|mitochondrial envelope ATP binding|ATPase activity|transporter activity breast(1)|central_nervous_system(1)|large_intestine(4)|lung(15)|ovary(1)|skin(2) 24 OV - Ovarian serous cystadenocarcinoma(82;0.00448) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) GCCATAACGACGGCCTGAGTT 0.463000 13 38 0 0 1 0 0 SNCA 0 broad.mit.edu 37 4 90743488 90743488 + Missense_Mutation SNP G G A TCGA-DU-6403-01A-11D-1705-08 TCGA-DU-6403-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d48a626-5f15-4f2d-8ca9-947b7d39146a 1ae82b76-b781-4d6e-a0da-ba341056fe11 g.chr4:90743488G>A ENST00000394989.2 - 3 435 c.173C>T c.(172-174)aCg>aTg p.T58M SNCA_ENST00000420646.2_Missense_Mutation_p.T72M|SNCA_ENST00000345009.4_Missense_Mutation_p.T72M|SNCA_ENST00000394986.1_Missense_Mutation_p.T72M|SNCA_ENST00000336904.3_Missense_Mutation_p.T72M|SNCA_ENST00000505199.1_Missense_Mutation_p.T58M|SNCA_ENST00000394991.3_Missense_Mutation_p.T72M|SNCA_ENST00000508895.1_Missense_Mutation_p.T72M|SNCA_ENST00000502987.1_Missense_Mutation_p.T72M|SNCA_ENST00000506244.1_Missense_Mutation_p.T72M P37840 SYUA_HUMAN synuclein, alpha (non A4 component of amyloid precursor) 72 4 X 11 AA tandem repeats of [EGS]-K-T-K- [EQ]-[GQ]-V-X(4). activation of caspase activity|anti-apoptosis|negative regulation of dopamine uptake|negative regulation of exocytosis|negative regulation of histone acetylation|negative regulation of microtubule polymerization|negative regulation of monooxygenase activity|negative regulation of norepinephrine uptake|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of serotonin uptake|negative regulation of thrombin receptor signaling pathway|negative regulation of transporter activity|positive regulation of endocytosis|positive regulation of inositol phosphate biosynthetic process|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein serine/threonine kinase activity|positive regulation of receptor recycling|positive regulation of release of sequestered calcium ion into cytosol|receptor internalization|regulation of phospholipase activity|response to interferon-gamma|response to interleukin-1|response to iron(II) ion|response to lipopolysaccharide|response to magnesium ion|synaptic vesicle endocytosis actin cytoskeleton|axon|cell cortex|cell junction|cytosol|fibril|growth cone|nucleus|synapse alpha-tubulin binding|calcium ion binding|caspase inhibitor activity|dynein binding|ferrous iron binding|histone binding|Hsp70 protein binding|kinesin binding|magnesium ion binding|phosphoprotein binding|tau protein binding|zinc ion binding kidney(1)|large_intestine(2)|lung(4)|ovary(1) 8 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;7.42e-05) Melatonin(DB01065) TGTCACACCCGTCACCACTGC 0.502000 15 25 0 0 1 0 0 OR6K3 391114 broad.mit.edu 37 1 158687191 158687191 + Missense_Mutation SNP T T G TCGA-DU-6403-01A-11D-1705-08 TCGA-DU-6403-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d48a626-5f15-4f2d-8ca9-947b7d39146a 1ae82b76-b781-4d6e-a0da-ba341056fe11 g.chr1:158687191T>G ENST00000368146.1 - 1 762 c.763A>C c.(763-765)Acc>Ccc p.T255P OR6K3_ENST00000368145.1_Missense_Mutation_p.T239P Q8NGY3 OR6K3_HUMAN olfactory receptor, family 6, subfamily K, member 3 255 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1) 41 all_hematologic(112;0.0378) CCTGCACAGGTAGAAAAAGCC 0.453000 26 33 0 0 1 0 0 TDRD3 81550 broad.mit.edu 37 13 61103049 61103049 + Missense_Mutation SNP A A G TCGA-DU-6403-01A-11D-1705-08 TCGA-DU-6403-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d48a626-5f15-4f2d-8ca9-947b7d39146a 1ae82b76-b781-4d6e-a0da-ba341056fe11 g.chr13:61103049A>G ENST00000196169.3 + 11 2199 c.1411A>G c.(1411-1413)Att>Gtt p.I471V TDRD3_ENST00000377894.2_Missense_Mutation_p.I471V|TDRD3_ENST00000377881.2_Missense_Mutation_p.I471V|TDRD3_ENST00000535286.1_Missense_Mutation_p.I564V NM_001146071.1|NM_030794.2 NP_001139543.1|NP_110421.1 Q9H7E2 TDRD3_HUMAN tudor domain containing 3 471 chromatin modification cytoplasm|nucleus chromatin binding|methylated histone residue binding|nucleic acid binding|transcription coactivator activity breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 40 Prostate(109;0.173)|Breast(118;0.174) GBM - Glioblastoma multiforme(99;0.000291) TGGTATAAAAATTGAAAAACA 0.303000 3 30 0 0 1 0 0 TUBGCP5 114791 broad.mit.edu 37 15 22835954 22835954 + Missense_Mutation SNP A A G TCGA-DU-6403-01A-11D-1705-08 TCGA-DU-6403-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d48a626-5f15-4f2d-8ca9-947b7d39146a 1ae82b76-b781-4d6e-a0da-ba341056fe11 g.chr15:22835954A>G ENST00000283645.4 + 2 315 c.185A>G c.(184-186)gAa>gGa p.E62G TUBGCP5_ENST00000453949.2_Missense_Mutation_p.E62G NM_052903.4 NP_443135.3 Q96RT8 GCP5_HUMAN tubulin, gamma complex associated protein 5 62 G2/M transition of mitotic cell cycle|microtubule nucleation centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole microtubule binding breast(5)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(23)|prostate(1)|skin(2)|urinary_tract(1) 46 all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488) all cancers(64;2.86e-06)|Epithelial(43;2.63e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000949) CACAAAATAGAAAAAACAATC 0.313000 52 85 0 0 1 0 0 DUOX2 50506 broad.mit.edu 37 15 45401122 45401122 + Silent SNP G G A TCGA-DU-6403-01A-11D-1705-08 TCGA-DU-6403-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d48a626-5f15-4f2d-8ca9-947b7d39146a 1ae82b76-b781-4d6e-a0da-ba341056fe11 g.chr15:45401122G>A ENST00000389039.6 - 12 1648 c.1263C>T c.(1261-1263)tcC>tcT p.S421S DUOX2_ENST00000603300.1_Silent_p.S421S Q9NRD8 DUOX2_HUMAN dual oxidase 2 421 Peroxidase-like; mediates peroxidase activity (By similarity). cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus apical plasma membrane|integral to membrane calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1) 63 all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027) all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068) AGTCTGTACGGGAGAATTTGC 0.557000 12 41 0 0 1 0 0 HECW1 23072 broad.mit.edu 37 7 43581598 43581598 + Splice_Site SNP G G C TCGA-DU-6403-01A-11D-1705-08 TCGA-DU-6403-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d48a626-5f15-4f2d-8ca9-947b7d39146a 1ae82b76-b781-4d6e-a0da-ba341056fe11 g.chr7:43581598G>C ENST00000395891.1 + 26 4853 c.e26+1 HECW1_ENST00000453890.1_Splice_Site NM_015052.3 NP_055867.3 Q76N89 HECW1_HUMAN HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus ubiquitin-protein ligase activity NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3) 125 TTTTGGACAGGTTTGTGTGAC 0.368000 26 126 0 0 1 0 0 MT1HL1 645745 broad.mit.edu 37 1 237167625 237167625 + Silent SNP G G A TCGA-DU-6403-01A-11D-1705-08 TCGA-DU-6403-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d48a626-5f15-4f2d-8ca9-947b7d39146a 1ae82b76-b781-4d6e-a0da-ba341056fe11 g.chr1:237167625G>A ENST00000464121.2 - 1 93 c.48C>T c.(46-48)gcC>gcT p.A16A NM_001276687.1 NP_001263616.1 metallothionein 1H-like 1 TGCAGGAGCCGGCGCAGGCGT 0.627000 8 18 0 0 1 0 0 AGBL5 60509 broad.mit.edu 37 2 27278054 27278054 + Missense_Mutation SNP C C T TCGA-DU-6403-01A-11D-1705-08 TCGA-DU-6403-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d48a626-5f15-4f2d-8ca9-947b7d39146a 1ae82b76-b781-4d6e-a0da-ba341056fe11 g.chr2:27278054C>T ENST00000360131.4 + 6 1000 c.841C>T c.(841-843)Cgt>Tgt p.R281C AGBL5_ENST00000323064.8_Missense_Mutation_p.R281C NM_021831.5 NP_068603.4 Q8NDL9 CBPC5_HUMAN ATP/GTP binding protein-like 5 281 protein branching point deglutamylation|proteolysis cytosol|nucleus metallocarboxypeptidase activity|tubulin binding|zinc ion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1) 28 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CCAAACCCTCCGTCGCCTCTT 0.557000 41 71 0 0 1 0 0 MYH11 4629 broad.mit.edu 37 16 15839063 15839063 + Missense_Mutation SNP C C T TCGA-DU-6403-01A-11D-1705-08 TCGA-DU-6403-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d48a626-5f15-4f2d-8ca9-947b7d39146a 1ae82b76-b781-4d6e-a0da-ba341056fe11 g.chr16:15839063C>T ENST00000338282.6 - 20 2549 c.2443G>A c.(2443-2445)Gcc>Acc p.A815T MYH11_ENST00000300036.5_Missense_Mutation_p.A815T|MYH11_ENST00000576790.1_Missense_Mutation_p.A815T|MYH11_ENST00000452625.2_Missense_Mutation_p.A822T|MYH11_ENST00000396324.3_Missense_Mutation_p.A822T NM_022844.2 NP_074035.1 P35749 MYH11_HUMAN myosin, heavy chain 11, smooth muscle 815 IQ. axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction cytosol|melanosome|muscle myosin complex|myosin filament actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1) 123 ACCTTCATGGCGGTCAGCTGC 0.617000 T CBFB AML 22 42 0 0 1 0 0 DLG5 9231 broad.mit.edu 37 10 79571808 79571808 + Missense_Mutation SNP C C T TCGA-DU-6403-01A-11D-1705-08 TCGA-DU-6403-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d48a626-5f15-4f2d-8ca9-947b7d39146a 1ae82b76-b781-4d6e-a0da-ba341056fe11 g.chr10:79571808C>T ENST00000372391.2 - 22 4201 c.4196G>A c.(4195-4197)gGc>gAc p.G1399D DLG5_ENST00000459739.1_5'UTR|DLG5_ENST00000372388.2_Missense_Mutation_p.G1059D NM_004747.3 NP_004738.3 Q8TDM6 DLG5_HUMAN discs, large homolog 5 (Drosophila) 1399 PDZ 3. cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis cell junction|cytoplasm beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 60 all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146) Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446) CAGGTTTATGCCGTTGAACTG 0.642000 3 37 0 0 1 0 0 SLC35F3 148641 broad.mit.edu 37 1 234041399 234041399 + Missense_Mutation SNP G G A TCGA-DU-6403-01A-11D-1705-08 TCGA-DU-6403-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d48a626-5f15-4f2d-8ca9-947b7d39146a 1ae82b76-b781-4d6e-a0da-ba341056fe11 g.chr1:234041399G>A ENST00000366618.3 + 2 323 c.178G>A c.(178-180)Gtg>Atg p.V60M NM_173508.2 NP_775779.1 Q8IY50 S35F3_HUMAN solute carrier family 35, member F3 0 transport integral to membrane p.V60L(1) breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|urinary_tract(1) 32 Ovarian(103;0.0454) all_cancers(173;0.145)|Prostate(94;0.0885) OV - Ovarian serous cystadenocarcinoma(106;0.00531) GTCGCGCTCCGTGGAGGATCT 0.642000 23 39 0 0 1 0 0 DLGAP5 9787 broad.mit.edu 37 14 55619340 55619340 + Missense_Mutation SNP G G T TCGA-DU-6403-01A-11D-1705-08 TCGA-DU-6403-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d48a626-5f15-4f2d-8ca9-947b7d39146a 1ae82b76-b781-4d6e-a0da-ba341056fe11 g.chr14:55619340G>T ENST00000247191.2 - 16 2305 c.2089C>A c.(2089-2091)Cct>Act p.P697T DLGAP5_ENST00000395425.2_Missense_Mutation_p.P697T NM_014750.4 NP_055565.3 Q15398 DLGP5_HUMAN discs, large (Drosophila) homolog-associated protein 5 697 cell proliferation|cell-cell signaling|mitotic chromosome movement towards spindle pole|positive regulation of mitotic metaphase/anaphase transition nucleus|spindle pole centrosome phosphoprotein phosphatase activity|protein binding biliary_tract(1)|breast(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 44 GGTAATCCAGGACACTGAGCA 0.323000 5 16 1.23904e-05 1.30023e-05 1 1 0 SPAG17 200162 broad.mit.edu 37 1 118558706 118558706 + Missense_Mutation SNP A A C TCGA-DU-6403-01A-11D-1705-08 TCGA-DU-6403-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d48a626-5f15-4f2d-8ca9-947b7d39146a 1ae82b76-b781-4d6e-a0da-ba341056fe11 g.chr1:118558706A>C ENST00000336338.5 - 29 4234 c.4169T>G c.(4168-4170)aTa>aGa p.I1390R NM_206996.2 NP_996879.1 Q6Q759 SPG17_HUMAN sperm associated antigen 17 1390 cilium|flagellar axoneme|microtubule NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1) 123 Esophageal squamous(2;0.0106) all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01) Lung(183;0.0858) CCAGGTGCCTATGTGAACCTC 0.468000 26 53 0 0 1 0 0 SLC25A53 401612 broad.mit.edu 37 X 103349186 103349186 + Missense_Mutation SNP C C A TCGA-DU-6403-01A-11D-1705-08 TCGA-DU-6403-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d48a626-5f15-4f2d-8ca9-947b7d39146a 1ae82b76-b781-4d6e-a0da-ba341056fe11 g.chrX:103349186C>A ENST00000357421.4 - 2 935 c.755G>T c.(754-756)tGg>tTg p.W252L NM_001012755.3 NP_001012773.2 Q5H9E4 MCAR6_HUMAN solute carrier family 25, member 53 252 transport integral to membrane|mitochondrial inner membrane GGCAGAGGCCCACAGGCTTGG 0.532000 16 28 3.45872e-05 3.58526e-05 1 1 0 FAM71B 153745 broad.mit.edu 37 5 156589604 156589604 + Missense_Mutation SNP C C T TCGA-DU-6403-01A-11D-1705-08 TCGA-DU-6403-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d48a626-5f15-4f2d-8ca9-947b7d39146a 1ae82b76-b781-4d6e-a0da-ba341056fe11 g.chr5:156589604C>T ENST00000302938.4 - 2 1767 c.1672G>A c.(1672-1674)Gta>Ata p.V558I NM_130899.2 NP_570969.2 Q8TC56 FA71B_HUMAN family with sequence similarity 71, member B 558 nucleus NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 68 Renal(175;0.00212) Medulloblastoma(196;0.0523)|all_neural(177;0.21) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) ACGATATCTACCTCTCTGTCA 0.483000 61 145 0 0 1 0 0 MIR548I2 0 broad.mit.edu 37 4 9557805 9557805 + RNA SNP C C T TCGA-DU-6403-01A-11D-1705-08 TCGA-DU-6403-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d48a626-5f15-4f2d-8ca9-947b7d39146a 1ae82b76-b781-4d6e-a0da-ba341056fe11 g.chr4:9557805C>T ENST00000408348.1 - 0 132 NR_031688.1 GGATCAGGGACGAACTTTGTT 0.383000 58 121 0 0 1 0 0 GRIA1 0 broad.mit.edu 37 5 153174271 153174271 + Silent SNP C C T TCGA-DU-6403-01A-11D-1705-08 TCGA-DU-6403-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d48a626-5f15-4f2d-8ca9-947b7d39146a 1ae82b76-b781-4d6e-a0da-ba341056fe11 g.chr5:153174271C>T ENST00000285900.5 + 14 2704 c.2361C>T c.(2359-2361)tgC>tgT p.C787C GRIA1_ENST00000518783.1_Silent_p.C797C|GRIA1_ENST00000521843.2_Silent_p.C718C|GRIA1_ENST00000340592.5_Intron|GRIA1_ENST00000518142.1_Silent_p.C707C|GRIA1_ENST00000448073.4_Intron NM_000827.3|NM_001258019.1 NP_000818.2|NP_001244948.1 P42261 GRIA1_HUMAN glutamate receptor, ionotropic, AMPA 1 787 synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 81 Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21) Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785) Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236) AGGGCGAGTGCGGCAGCGGGG 0.458000 9 23 0 0 1 0 0 MPPED1 758 broad.mit.edu 37 22 43870690 43870690 + Missense_Mutation SNP G G A TCGA-DU-6403-01A-11D-1705-08 TCGA-DU-6403-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d48a626-5f15-4f2d-8ca9-947b7d39146a 1ae82b76-b781-4d6e-a0da-ba341056fe11 g.chr22:43870690G>A ENST00000417669.1 + 4 925 c.481G>A c.(481-483)Gac>Aac p.D161N MPPED1_ENST00000414469.2_Missense_Mutation_p.D55N|MPPED1_ENST00000439548.1_Missense_Mutation_p.D3N|MPPED1_ENST00000542779.1_Missense_Mutation_p.D161N|MPPED1_ENST00000443721.1_Missense_Mutation_p.D161N|MPPED1_ENST00000538182.1_Missense_Mutation_p.D194N O15442 MPPD1_HUMAN metallophosphoesterase domain containing 1 161 hydrolase activity endometrium(3)|large_intestine(3)|lung(4)|prostate(2)|skin(1) 13 all_neural(38;0.0244)|Ovarian(80;0.0694) GTTCATGGCCGACCTCATCAA 0.542000 32 77 0 0 1 0 0 ROBO2 6092 broad.mit.edu 37 3 77614192 77614192 + Silent SNP C C T TCGA-DU-6403-01A-11D-1705-08 TCGA-DU-6403-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d48a626-5f15-4f2d-8ca9-947b7d39146a 1ae82b76-b781-4d6e-a0da-ba341056fe11 g.chr3:77614192C>T ENST00000461745.1 + 12 2670 c.1770C>T c.(1768-1770)atC>atT p.I590I ROBO2_ENST00000332191.8_Silent_p.I590I|ROBO2_ENST00000487694.3_Silent_p.I606I NM_002942.4 NP_002933.1 Q9HCK4 ROBO2_HUMAN roundabout, axon guidance receptor, homolog 2 (Drosophila) 590 Fibronectin type-III 1. apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development axolemma|cell surface|integral to membrane axon guidance receptor activity|identical protein binding NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1) 117 Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103) CCAATACAATCTACTTATTCA 0.507000 13 41 0 0 1 0 0 ASTN1 460 broad.mit.edu 37 1 176863937 176863937 + Missense_Mutation SNP G G A TCGA-DU-6403-01A-11D-1705-08 TCGA-DU-6403-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d48a626-5f15-4f2d-8ca9-947b7d39146a 1ae82b76-b781-4d6e-a0da-ba341056fe11 g.chr1:176863937G>A ENST00000367654.2 - 17 2738 c.2725C>T c.(2725-2727)Cgg>Tgg p.R909W ASTN1_ENST00000361833.2_Missense_Mutation_p.R901W|ASTN1_ENST00000367657.3_Missense_Mutation_p.R901W|ASTN1_ENST00000424564.2_Missense_Mutation_p.R901W O14525 ASTN1_HUMAN astrotactin 1 909 cell migration|neuron cell-cell adhesion integral to membrane NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3) 153 TCTCTTTCCCGCTCCTCAGAC 0.532000 55 95 0 0 1 0 0 ST14 6768 broad.mit.edu 37 11 130079588 130079588 + Missense_Mutation SNP A A G TCGA-DU-6403-01A-11D-1705-08 TCGA-DU-6403-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d48a626-5f15-4f2d-8ca9-947b7d39146a 1ae82b76-b781-4d6e-a0da-ba341056fe11 g.chr11:130079588A>G ENST00000278742.5 + 19 2856 c.2438A>G c.(2437-2439)gAg>gGg p.E813G NM_021978.3 NP_068813.1 Q9Y5Y6 ST14_HUMAN suppression of tumorigenicity 14 (colon carcinoma) 813 Peptidase S1. proteolysis integral to plasma membrane serine-type endopeptidase activity central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|pancreas(2)|prostate(1)|skin(3) 32 all_hematologic(175;0.0429) Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228) Urokinase(DB00013) TCCAGCGTGGAGGCGGATGGG 0.692000 3 26 0 0 1 0 0 CXXC11 285093 broad.mit.edu 37 2 242814228 242814228 + Missense_Mutation SNP C C T TCGA-DU-6403-01A-11D-1705-08 TCGA-DU-6403-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d48a626-5f15-4f2d-8ca9-947b7d39146a 1ae82b76-b781-4d6e-a0da-ba341056fe11 g.chr2:242814228C>T ENST00000343216.3 + 2 549 c.521C>T c.(520-522)aCg>aTg p.T174M NM_173821.2 NP_776182.2 Q14D33 CB085_HUMAN CXXC finger protein 11 174 integral to membrane TTCCCCGCCACGGCCTGGGGT 0.677000 5 5 0 0 1 0 0 ADAMTS4 9507 broad.mit.edu 37 1 161168155 161168156 + Frame_Shift_Ins INS - - AG TCGA-DU-6403-01A-11D-1705-08 TCGA-DU-6403-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d48a626-5f15-4f2d-8ca9-947b7d39146a 1ae82b76-b781-4d6e-a0da-ba341056fe11 g.chr1:161168155_161168156insAG ENST00000367996.4 - 1 690_691 c.262_263insCT c.(262-264)tggfs p.W88fs ADAMTS4_ENST00000367995.3_Frame_Shift_Ins_p.W88fs NM_005099.4 NP_005090.3 O75173 ATS4_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 4 88 proteolysis|skeletal system development extracellular space|proteinaceous extracellular matrix metalloendopeptidase activity|protease binding|zinc ion binding central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(20)|ovary(4)|prostate(3)|skin(1)|urinary_tract(1) 43 all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00275) CGTCTCCCCAAAGGCCTGCAAG 0.668 9 16 --- --- --- --- PSME4 23198 broad.mit.edu 37 2 54123990 54123990 + Frame_Shift_Del DEL T T - TCGA-DU-6403-01A-11D-1705-08 TCGA-DU-6403-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d48a626-5f15-4f2d-8ca9-947b7d39146a 1ae82b76-b781-4d6e-a0da-ba341056fe11 g.chr2:54123990delT ENST00000404125.1 - 32 3694 c.3639delA c.(3637-3639)aafs p.K1213fs PSME4_ENST00000421748.2_Frame_Shift_Del_p.K357fs NM_014614.2 NP_055429.2 Q14997 PSME4_HUMAN proteasome (prosome, macropain) activator subunit 4 1213 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|spermatogenesis|viral reproduction nuclear speck|proteasome complex binding breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2) 60 Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181) TTTTTAGCTGTTTAAGGATAC 0.348 74 174 --- --- --- --- KTN1-AS1 0 broad.mit.edu 37 14 56014174 56014174 + RNA DEL G G - rs72015246 TCGA-DU-6403-01A-11D-1705-08 TCGA-DU-6403-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d48a626-5f15-4f2d-8ca9-947b7d39146a 1ae82b76-b781-4d6e-a0da-ba341056fe11 g.chr14:56014174delG ENST00000554558.1 - 0 364 aaaaaaaaaagaaTTGGCACA 0.443 3 4 --- --- --- --- LA16c-306E5.3 0 broad.mit.edu 37 16 3546141 3546141 + RNA DEL A A - rs74546027 TCGA-DU-6403-01A-11D-1705-08 TCGA-DU-6403-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d48a626-5f15-4f2d-8ca9-947b7d39146a 1ae82b76-b781-4d6e-a0da-ba341056fe11 g.chr16:3546141delA ENST00000574423.2 + 0 111 actccgtctcaaaaaaaaaaa 0.557 3 5 --- --- --- --- TSPAN10 83882 broad.mit.edu 37 17 79614933 79614936 + RNA DEL TAAC TAAC - rs137956393 TCGA-DU-6403-01A-11D-1705-08 TCGA-DU-6403-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d48a626-5f15-4f2d-8ca9-947b7d39146a 1ae82b76-b781-4d6e-a0da-ba341056fe11 g.chr17:79614933_79614936delTAAC ENST00000328585.4 + 0 771 TSPAN10_ENST00000572675.1_RNA NM_031945.3 NP_114151.3 Q9H1Z9 TSN10_HUMAN tetraspanin 10 integral to membrane ovary(1) 1 all_neural(118;0.0878)|all_lung(278;0.175)|Lung NSC(278;0.192)|Melanoma(429;0.242) BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739) GCAGGTACTTTAACTAACTGCAGC 0.637 12 5 --- --- --- --- TEX33 339669 broad.mit.edu 37 22 37387528 37387528 + Frame_Shift_Del DEL C C - TCGA-DU-6403-01A-11D-1705-08 TCGA-DU-6403-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d48a626-5f15-4f2d-8ca9-947b7d39146a 1ae82b76-b781-4d6e-a0da-ba341056fe11 g.chr22:37387528delC ENST00000405091.2 - 6 990 c.739delG c.(739-741)atfs p.D247fs TEX33_ENST00000402860.3_Frame_Shift_Del_p.D162fs|TEX33_ENST00000381821.1_Frame_Shift_Del_p.D247fs O43247 EAN57_HUMAN testis expressed 33 247 TTACCCAGATCATCCGTCTTC 0.542 38 86 --- --- --- ---