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 KIAA1614 57710 broad.mit.edu 37 1 180904874 180904874 + Missense_Mutation SNP C C G TCGA-KK-A7B3-01A-11D-A33T-08 TCGA-KK-A7B3-11A-21D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22aff19c-f5e8-4648-b758-b92784cd8cdf 3b8bec14-e3b8-4447-a11a-96144843d4c1 g.chr1:180904874C>G ENST00000367588.4 + 5 1884 c.1829C>G c.(1828-1830)tCt>tGt p.S610C KIAA1614_ENST00000367587.1_Missense_Mutation_p.S231C NM_020950.1 NP_066001.1 Q5VZ46 K1614_HUMAN KIAA1614 610 NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1) 33 GAGGTGGACTCTGCCCTGGAC 0.652 11 21 --- --- --- --- KIAA1614 57710 broad.mit.edu 37 1 180905490 180905490 + Missense_Mutation SNP A A C TCGA-KK-A7B3-01A-11D-A33T-08 TCGA-KK-A7B3-11A-21D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22aff19c-f5e8-4648-b758-b92784cd8cdf 3b8bec14-e3b8-4447-a11a-96144843d4c1 g.chr1:180905490A>C ENST00000367588.4 + 5 2500 c.2445A>C c.(2443-2445)aaA>aaC p.K815N KIAA1614_ENST00000367587.1_Missense_Mutation_p.K436N NM_020950.1 NP_066001.1 Q5VZ46 K1614_HUMAN KIAA1614 815 NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1) 33 CTTCGAGGAAAACCACCTCGC 0.617 14 28 --- --- --- --- SULT1C3 442038 broad.mit.edu 37 2 108869816 108869816 + Missense_Mutation SNP T T C TCGA-KK-A7B3-01A-11D-A33T-08 TCGA-KK-A7B3-11A-21D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22aff19c-f5e8-4648-b758-b92784cd8cdf 3b8bec14-e3b8-4447-a11a-96144843d4c1 g.chr2:108869816T>C ENST00000329106.2 + 3 317 c.317T>C c.(316-318)cTt>cCt p.L106P SULT1C3_ENST00000376700.1_Missense_Mutation_p.L106P NM_001008743.1 NP_001008743.1 Q6IMI6 ST1C3_HUMAN sulfotransferase family, cytosolic, 1C, member 3 106 cytoplasm alcohol sulfotransferase activity breast(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(4) 16 GAGTTCGTTCTTGAAATGTCC 0.363 12 45 --- --- --- --- HS6ST1 9394 broad.mit.edu 37 2 129075918 129075918 + Missense_Mutation SNP C C T TCGA-KK-A7B3-01A-11D-A33T-08 TCGA-KK-A7B3-11A-21D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22aff19c-f5e8-4648-b758-b92784cd8cdf 3b8bec14-e3b8-4447-a11a-96144843d4c1 g.chr2:129075918C>T ENST00000259241.6 - 1 233 c.220G>A c.(220-222)Gag>Aag p.E74K HS6ST1_ENST00000494089.1_5'UTR NM_004807.2 NP_004798.3 O60243 H6ST1_HUMAN heparan sulfate 6-O-sulfotransferase 1 74 heparan sulfate proteoglycan biosynthetic process, enzymatic modification integral to plasma membrane sulfotransferase activity endometrium(3)|liver(1)|lung(7)|pancreas(1)|prostate(2)|skin(1) 15 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.117) CGCTCCAGCTCGCGGACCGGG 0.692 5 22 --- --- --- --- PIKFYVE 200576 broad.mit.edu 37 2 209190015 209190015 + Missense_Mutation SNP T T G TCGA-KK-A7B3-01A-11D-A33T-08 TCGA-KK-A7B3-11A-21D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22aff19c-f5e8-4648-b758-b92784cd8cdf 3b8bec14-e3b8-4447-a11a-96144843d4c1 g.chr2:209190015T>G ENST00000264380.4 + 20 2638 c.2480T>G c.(2479-2481)tTt>tGt p.F827C NM_015040.3 NP_055855.2 Q9Y2I7 FYV1_HUMAN phosphoinositide kinase, FYVE finger containing 827 cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi early endosome membrane|membrane raft 1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 107 ACACTGATGTTTTTTGAAGGT 0.388 12 27 --- --- --- --- QRICH1 54870 broad.mit.edu 37 3 49069649 49069649 + Missense_Mutation SNP G G C TCGA-KK-A7B3-01A-11D-A33T-08 TCGA-KK-A7B3-11A-21D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22aff19c-f5e8-4648-b758-b92784cd8cdf 3b8bec14-e3b8-4447-a11a-96144843d4c1 g.chr3:49069649G>C ENST00000395443.2 - 9 2577 c.2105C>G c.(2104-2106)cCc>cGc p.P702R QRICH1_ENST00000424300.1_Missense_Mutation_p.P702R|QRICH1_ENST00000357496.2_Missense_Mutation_p.P702R NM_198880.1 NP_942581.1 Q2TAL8 QRIC1_HUMAN glutamine-rich 1 702 p.P702L(1) breast(2)|endometrium(5)|large_intestine(8)|lung(8)|ovary(1)|skin(1) 25 BRCA - Breast invasive adenocarcinoma(193;8.88e-05)|Kidney(197;0.00239)|KIRC - Kidney renal clear cell carcinoma(197;0.00258) GAGCTTGATGGGACATCTCAA 0.453 9 62 --- --- --- --- ANKRD50 57182 broad.mit.edu 37 4 125631656 125631656 + Missense_Mutation SNP G G T rs140120480 TCGA-KK-A7B3-01A-11D-A33T-08 TCGA-KK-A7B3-11A-21D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22aff19c-f5e8-4648-b758-b92784cd8cdf 3b8bec14-e3b8-4447-a11a-96144843d4c1 g.chr4:125631656G>T ENST00000504087.1 - 2 1048 c.11C>A c.(10-12)cCt>cAt p.P4H ANKRD50_ENST00000515641.1_Intron NM_020337.2 NP_065070.1 Q9ULJ7 ANR50_HUMAN ankyrin repeat domain 50 4 NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1) 55 CTCTTCCCAAGGATTAGTCAT 0.403 4 168 --- --- --- --- UGT3A1 133688 broad.mit.edu 37 5 35968133 35968133 + Missense_Mutation SNP G G T TCGA-KK-A7B3-01A-11D-A33T-08 TCGA-KK-A7B3-11A-21D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22aff19c-f5e8-4648-b758-b92784cd8cdf 3b8bec14-e3b8-4447-a11a-96144843d4c1 g.chr5:35968133G>T ENST00000274278.3 - 3 656 c.299C>A c.(298-300)gCa>gAa p.A100E UGT3A1_ENST00000513233.1_Intron|UGT3A1_ENST00000503189.1_Missense_Mutation_p.A100E|UGT3A1_ENST00000507113.1_Missense_Mutation_p.A66E|UGT3A1_ENST00000333811.4_Missense_Mutation_p.A46E NM_152404.3 NP_689617.3 Q6NUS8 UD3A1_HUMAN UDP glycosyltransferase 3 family, polypeptide A1 100 integral to membrane glucuronosyltransferase activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4) 46 all_lung(31;0.000197) Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) GCCATCCAATGCTGTTTCTAT 0.328 10 21 --- --- --- --- SLIT3 6586 broad.mit.edu 37 5 168176626 168176626 + Missense_Mutation SNP T T C TCGA-KK-A7B3-01A-11D-A33T-08 TCGA-KK-A7B3-11A-21D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22aff19c-f5e8-4648-b758-b92784cd8cdf 3b8bec14-e3b8-4447-a11a-96144843d4c1 g.chr5:168176626T>C ENST00000519560.1 - 19 2407 c.1988A>G c.(1987-1989)aAc>aGc p.N663S SLIT3_ENST00000404867.3_Missense_Mutation_p.N663S|SLIT3_ENST00000332966.8_Missense_Mutation_p.N663S NM_001271946.1|NM_003062.2 NP_001258875.1|NP_003053 O75094 SLIT3_HUMAN slit homolog 3 (Drosophila) 663 LRRCT 3. apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway extracellular space|mitochondrion calcium ion binding|Roundabout binding endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) GTTGAAGGGGTTGGACAGGAG 0.587 28 62 --- --- --- --- MGAM 8972 broad.mit.edu 37 7 141758013 141758013 + Missense_Mutation SNP G G A TCGA-KK-A7B3-01A-11D-A33T-08 TCGA-KK-A7B3-11A-21D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22aff19c-f5e8-4648-b758-b92784cd8cdf 3b8bec14-e3b8-4447-a11a-96144843d4c1 g.chr7:141758013G>A ENST00000475668.2 + 31 3758 c.3704G>A c.(3703-3705)cGg>cAg p.R1235Q MGAM_ENST00000549489.2_Missense_Mutation_p.R1235Q O43451 MGA_HUMAN maltase-glucoamylase (alpha-glucosidase) 1235 Glucoamylase. polysaccharide digestion|starch catabolic process apical plasma membrane|integral to membrane carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2) 13 Melanoma(164;0.0272) Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878) TTGATTGGCCGGCCTGTGATG 0.438 4 262 --- --- --- --- ADAMTSL1 92949 broad.mit.edu 37 9 18474243 18474243 + Missense_Mutation SNP C C G TCGA-KK-A7B3-01A-11D-A33T-08 TCGA-KK-A7B3-11A-21D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22aff19c-f5e8-4648-b758-b92784cd8cdf 3b8bec14-e3b8-4447-a11a-96144843d4c1 g.chr9:18474243C>G ENST00000380548.4 + 1 352 c.13C>G c.(13-15)Cgt>Ggt p.R5G ADAMTSL1_ENST00000327883.7_Missense_Mutation_p.R5G|ADAMTSL1_ENST00000380566.4_Missense_Mutation_p.R5G|ADAMTSL1_ENST00000431052.2_Missense_Mutation_p.R5G|ADAMTSL1_ENST00000276935.6_Missense_Mutation_p.R5G|ADAMTSL1_ENST00000380570.4_Missense_Mutation_p.R5G NM_001040272.5 NP_001035362.3 Q8N6G6 ATL1_HUMAN ADAMTS-like 1 5 proteinaceous extracellular matrix metallopeptidase activity|zinc ion binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 42 GBM - Glioblastoma multiforme(50;1.29e-17) GGAATGCTGCCGTCGGGCAAC 0.507 39 52 --- --- --- --- MUSK 4593 broad.mit.edu 37 9 113431241 113431241 + Missense_Mutation SNP C C A TCGA-KK-A7B3-01A-11D-A33T-08 TCGA-KK-A7B3-11A-21D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22aff19c-f5e8-4648-b758-b92784cd8cdf 3b8bec14-e3b8-4447-a11a-96144843d4c1 g.chr9:113431241C>A ENST00000416899.2 + 1 183 c.57C>A c.(55-57)agC>agA p.S19R MUSK_ENST00000374440.3_5'UTR|MUSK_ENST00000189978.5_Missense_Mutation_p.S19R|MUSK_ENST00000374448.4_Missense_Mutation_p.S19R O15146 MUSK_HUMAN muscle, skeletal, receptor tyrosine kinase 19 transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3) 49 TTGCCTTCAGCGGAACTGAGA 0.443 46 147 --- --- --- --- DKK1 22943 broad.mit.edu 37 10 54074801 54074801 + Missense_Mutation SNP G G A TCGA-KK-A7B3-01A-11D-A33T-08 TCGA-KK-A7B3-11A-21D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22aff19c-f5e8-4648-b758-b92784cd8cdf 3b8bec14-e3b8-4447-a11a-96144843d4c1 g.chr10:54074801G>A ENST00000373970.3 + 2 501 c.362G>A c.(361-363)tGc>tAc p.C121Y DKK1_ENST00000467359.1_3'UTR NM_012242.2 NP_036374.1 O94907 DKK1_HUMAN dickkopf WNT signaling pathway inhibitor 1 121 DKK-type Cys-1. negative regulation of peptidyl-serine phosphorylation|negative regulation of protein complex assembly|negative regulation of transcription from RNA polymerase II promoter|positive regulation of heart induction by negative regulation of canonical Wnt receptor signaling pathway|regulation of receptor internalization extracellular space|plasma membrane growth factor activity|low-density lipoprotein particle receptor binding|receptor antagonist activity|signal transducer activity kidney(2)|large_intestine(4)|lung(7)|ovary(1)|upper_aerodigestive_tract(2) 16 CGAAAACGCTGCATGCGTCAC 0.572 OREG0020191 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 6 34 --- --- --- --- KL 9365 broad.mit.edu 37 13 33635172 33635172 + Silent SNP C C A TCGA-KK-A7B3-01A-11D-A33T-08 TCGA-KK-A7B3-11A-21D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22aff19c-f5e8-4648-b758-b92784cd8cdf 3b8bec14-e3b8-4447-a11a-96144843d4c1 g.chr13:33635172C>A ENST00000380099.3 + 4 1964 c.1956C>A c.(1954-1956)gcC>gcA p.A652A KL_ENST00000487852.1_3'UTR|KL_ENST00000426690.2_3'UTR NM_004795.3 NP_004786.2 Q9UEF7 KLOT_HUMAN klotho 652 Glycosyl hydrolase-1 2. aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5) 41 all_epithelial(80;0.133) Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262) GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05) GCCTCCTGGCCAGGCAGGGCG 0.622 10 48 --- --- --- --- CHAMP1 283489 broad.mit.edu 37 13 115089515 115089515 + Missense_Mutation SNP A A T TCGA-KK-A7B3-01A-11D-A33T-08 TCGA-KK-A7B3-11A-21D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22aff19c-f5e8-4648-b758-b92784cd8cdf 3b8bec14-e3b8-4447-a11a-96144843d4c1 g.chr13:115089515A>T ENST00000361283.1 + 3 507 c.198A>T c.(196-198)aaA>aaT p.K66N NM_001164144.1|NM_001164145.1|NM_032436.2 NP_001157616.1|NP_001157617.1|NP_115812.1 Q96JM3 ZN828_HUMAN chromosome alignment maintaining phosphoprotein 1 66 attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|protein localization to kinetochore|protein localization to microtubule|sister chromatid biorientation condensed chromosome kinetochore|cytoplasm|nucleus|spindle nucleic acid binding|protein binding|zinc ion binding ACTGCCATAAATGCTTCTTCA 0.378 12 21 --- --- --- --- PDZD9 255762 broad.mit.edu 37 16 21995951 21995951 + Missense_Mutation SNP A A T TCGA-KK-A7B3-01A-11D-A33T-08 TCGA-KK-A7B3-11A-21D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22aff19c-f5e8-4648-b758-b92784cd8cdf 3b8bec14-e3b8-4447-a11a-96144843d4c1 g.chr16:21995951A>T ENST00000286143.6 - 5 567 c.246T>A c.(244-246)gaT>gaA p.D82E PDZD9_ENST00000537222.2_Missense_Mutation_p.D84E|PDZD9_ENST00000424898.2_Missense_Mutation_p.D144E Q8IXQ8 PDZD9_HUMAN PDZ domain containing 9 144 PDZ. breast(3)|endometrium(2)|lung(3)|pancreas(1) 9 TGAAAGATTCATCTTTTGCCA 0.338 7 36 --- --- --- --- DEF8 54849 broad.mit.edu 37 16 90027430 90027430 + Silent SNP G G C TCGA-KK-A7B3-01A-11D-A33T-08 TCGA-KK-A7B3-11A-21D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22aff19c-f5e8-4648-b758-b92784cd8cdf 3b8bec14-e3b8-4447-a11a-96144843d4c1 g.chr16:90027430G>C ENST00000563594.1 + 7 1603 c.606G>C c.(604-606)ctG>ctC p.L202L DEF8_ENST00000567874.1_Silent_p.L142L|DEF8_ENST00000563848.1_3'UTR|DEF8_ENST00000563795.1_Silent_p.L202L|DEF8_ENST00000268676.7_Silent_p.L263L|DEF8_ENST00000570182.1_Silent_p.L192L|DEF8_ENST00000569453.1_Silent_p.L202L NM_001242818.1|NM_001242819.1 NP_001229747.1|NP_001229748.1 Q6ZN54 DEFI8_HUMAN differentially expressed in FDCP 8 homolog (mouse) 263 intracellular signal transduction zinc ion binding central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1) 12 all_cancers(9;7.59e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.0019)|all_hematologic(23;0.0194) BRCA - Breast invasive adenocarcinoma(80;0.0274) AATACGAACTGAACATCTGCC 0.577 43 104 --- --- --- --- C17orf85 55421 broad.mit.edu 37 17 3716470 3716470 + Silent SNP C C T TCGA-KK-A7B3-01A-11D-A33T-08 TCGA-KK-A7B3-11A-21D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22aff19c-f5e8-4648-b758-b92784cd8cdf 3b8bec14-e3b8-4447-a11a-96144843d4c1 g.chr17:3716470C>T ENST00000158149.3 - 14 1786 c.891G>A c.(889-891)ctG>ctA p.L297L C17orf85_ENST00000389005.4_Silent_p.L577L Q53F19 CQ085_HUMAN chromosome 17 open reading frame 85 577 nucleotide binding endometrium(2)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(1) 10 UCEC - Uterine corpus endometrioid carcinoma (3;0.0725) ATGCCCTTTGCAGCTCAGAGT 0.502 4 126 --- --- --- --- TMEM132E 124842 broad.mit.edu 37 17 32961959 32961959 + Missense_Mutation SNP C C G TCGA-KK-A7B3-01A-11D-A33T-08 TCGA-KK-A7B3-11A-21D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22aff19c-f5e8-4648-b758-b92784cd8cdf 3b8bec14-e3b8-4447-a11a-96144843d4c1 g.chr17:32961959C>G ENST00000321639.5 + 8 1888 c.1560C>G c.(1558-1560)gaC>gaG p.D520E NM_207313.1 NP_997196.1 Q6IEE7 T132E_HUMAN transmembrane protein 132E 520 integral to membrane breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 57 BRCA - Breast invasive adenocarcinoma(366;0.231) AGGGCACTGACCAGGTGGTCA 0.632 15 47 --- --- --- --- MPO 4353 broad.mit.edu 37 17 56348167 56348167 + Missense_Mutation SNP C C A TCGA-KK-A7B3-01A-11D-A33T-08 TCGA-KK-A7B3-11A-21D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22aff19c-f5e8-4648-b758-b92784cd8cdf 3b8bec14-e3b8-4447-a11a-96144843d4c1 g.chr17:56348167C>A ENST00000340482.3 - 11 2360 c.2184G>T c.(2182-2184)caG>caT p.Q728H MPO_ENST00000225275.3_Missense_Mutation_p.Q696H P05164 PERM_HUMAN myeloperoxidase 696 anti-apoptosis|hydrogen peroxide catabolic process|low-density lipoprotein particle remodeling extracellular space|lysosome|nucleus|stored secretory granule chromatin binding|heme binding|heparin binding|peroxidase activity breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(13)|ovary(2)|pancreas(1)|skin(4)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4) 46 Cefdinir(DB00535) GCAATGAGATCTGGGCCAGGG 0.537 14 44 --- --- --- --- BRWD1 54014 broad.mit.edu 37 21 40596364 40596364 + Missense_Mutation SNP G G A TCGA-KK-A7B3-01A-11D-A33T-08 TCGA-KK-A7B3-11A-21D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22aff19c-f5e8-4648-b758-b92784cd8cdf 3b8bec14-e3b8-4447-a11a-96144843d4c1 g.chr21:40596364G>A ENST00000342449.3 - 29 3430 c.3352C>T c.(3352-3354)Cca>Tca p.P1118S BRWD1_ENST00000380800.3_Missense_Mutation_p.P1118S|BRWD1_ENST00000333229.2_Missense_Mutation_p.P1118S NM_033656.3 NP_387505.1 Q9NSI6 BRWD1_HUMAN bromodomain and WD repeat domain containing 1 1118 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2) 58 Prostate(19;8.44e-08)|all_epithelial(19;0.223) ATGTCCCATGGGCTAAGTTTT 0.294 33 53 --- --- --- --- TCEAL6 158931 broad.mit.edu 37 X 101396002 101396002 + Missense_Mutation SNP G G A TCGA-KK-A7B3-01A-11D-A33T-08 TCGA-KK-A7B3-11A-21D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22aff19c-f5e8-4648-b758-b92784cd8cdf 3b8bec14-e3b8-4447-a11a-96144843d4c1 g.chrX:101396002G>A ENST00000372774.3 - 3 551 c.302C>T c.(301-303)cCg>cTg p.P101L TCEAL6_ENST00000372773.1_Missense_Mutation_p.P101L NM_001006938.2 NP_001006939.2 Q6IPX3 TCAL6_HUMAN transcription elongation factor A (SII)-like 6 101 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus p.P101L(1) central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2) 14 ATCTCCAGCCGGGCGCTTTTC 0.612 16 79 --- --- --- --- MBNL3 55796 broad.mit.edu 37 X 131516262 131516262 + Missense_Mutation SNP C C A TCGA-KK-A7B3-01A-11D-A33T-08 TCGA-KK-A7B3-11A-21D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22aff19c-f5e8-4648-b758-b92784cd8cdf 3b8bec14-e3b8-4447-a11a-96144843d4c1 g.chrX:131516262C>A ENST00000538204.1 - 6 876 c.811G>T c.(811-813)Gca>Tca p.A271S RAP2C-AS1_ENST00000441399.2_RNA|RAP2C-AS1_ENST00000421483.2_RNA|MBNL3_ENST00000370849.3_Missense_Mutation_p.A283S|MBNL3_ENST00000370857.3_Missense_Mutation_p.A321S|MBNL3_ENST00000370839.3_Missense_Mutation_p.A298S|MBNL3_ENST00000370844.1_Missense_Mutation_p.A237S|MBNL3_ENST00000370853.3_Missense_Mutation_p.A333S|MBNL3_ENST00000394311.2_Missense_Mutation_p.A237S NM_001170702.1 NP_001164173.1 Q9NUK0 MBNL3_HUMAN muscleblind-like splicing regulator 3 333 mRNA processing|multicellular organismal development|regulation of RNA splicing|RNA splicing Golgi apparatus|nucleus nucleic acid binding|zinc ion binding NS(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|prostate(2) 16 Acute lymphoblastic leukemia(192;0.000127) GTTGTTGCTGCAGACACAGTG 0.468 44 30 --- --- --- --- NTRK1 4914 broad.mit.edu 37 1 156849931 156849936 + In_Frame_Del DEL CCAGCT CCAGCT - TCGA-KK-A7B3-01A-11D-A33T-08 TCGA-KK-A7B3-11A-21D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22aff19c-f5e8-4648-b758-b92784cd8cdf 3b8bec14-e3b8-4447-a11a-96144843d4c1 g.chr1:156849931_156849936delCCAGCT ENST00000368196.3 + 15 2289_2294 c.2169_2174delCCAGCT c.(2167-2175)taccagctc>tac p.QL724del NTRK1_ENST00000531606.1_3'UTR|NTRK1_ENST00000524377.1_In_Frame_Del_p.QL730del|NTRK1_ENST00000392302.2_In_Frame_Del_p.QL694del|NTRK1_ENST00000358660.3_In_Frame_Del_p.QL727del NM_001012331.1 NP_001012331.1 P04629 NTRK1_HUMAN neurotrophic tyrosine kinase, receptor, type 1 730 Protein kinase. activation of adenylate cyclase activity|activation of MAPKK activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling|Ras protein signal transduction endosome|integral to plasma membrane ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 74 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) Imatinib(DB00619) AGCCCTGGTACCAGCTCTCCAACACG 0.621 T """TPM3, TPR, TFG""" papillary thyroid TSP Lung(10;0.080) 14 82 --- --- --- --- MBD1 4152 broad.mit.edu 37 18 47806261 47806262 + Frame_Shift_Del DEL AT AT - TCGA-KK-A7B3-01A-11D-A33T-08 TCGA-KK-A7B3-11A-21D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22aff19c-f5e8-4648-b758-b92784cd8cdf 3b8bec14-e3b8-4447-a11a-96144843d4c1 g.chr18:47806261_47806262delAT ENST00000591416.1 - 2 532_533 c.101_102delAT c.(100-102)tatfs p.Y35fs MBD1_ENST00000398495.2_Frame_Shift_Del_p.Y35fs|MBD1_ENST00000424334.2_Frame_Shift_Del_p.Y61fs|MBD1_ENST00000436910.1_Frame_Shift_Del_p.Y35fs|MBD1_ENST00000269468.5_Frame_Shift_Del_p.Y35fs|MBD1_ENST00000398493.1_Frame_Shift_Del_p.Y35fs|MBD1_ENST00000588937.1_Frame_Shift_Del_p.Y35fs|MBD1_ENST00000590208.1_Frame_Shift_Del_p.Y35fs|MBD1_ENST00000587605.1_Frame_Shift_Del_p.Y35fs|MBD1_ENST00000585672.1_Frame_Shift_Del_p.Y35fs|MBD1_ENST00000591535.1_Frame_Shift_Del_p.Y35fs|MBD1_ENST00000349085.2_Frame_Shift_Del_p.Y35fs|MBD1_ENST00000382948.5_Frame_Shift_Del_p.Y35fs|MBD1_ENST00000457839.2_Frame_Shift_Del_p.Y35fs|MBD1_ENST00000339998.6_Frame_Shift_Del_p.Y35fs|MBD1_ENST00000269471.5_Frame_Shift_Del_p.Y35fs|MBD1_ENST00000585595.1_Frame_Shift_Del_p.Y35fs|MBD1_ENST00000347968.3_Frame_Shift_Del_p.Y35fs|MBD1_ENST00000398488.1_Frame_Shift_Del_p.Y35fs|MBD1_ENST00000353909.3_Frame_Shift_Del_p.Y35fs Q9UIS9 MBD1_HUMAN methyl-CpG binding domain protein 1 35 MBD. negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter chromosome|nuclear speck methyl-CpG binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 36 ACCTCTGGTAATAGGTGTCTGA 0.554 26 32 --- --- --- ---