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 SHC3 53358 broad.mit.edu 37 9 91727511 91727511 + Missense_Mutation SNP T T C TCGA-TM-A7C5-01A-11D-A32B-08 TCGA-TM-A7C5-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64adb394-e415-4156-929b-da1b13c26af4 474aa4ed-af9d-4973-965e-d1217db30a43 g.chr9:91727511T>C ENST00000375835.4 - 2 811 c.505A>G c.(505-507)Atg>Gtg p.M169V SHC3_ENST00000375830.1_5'UTR NM_016848.5 NP_058544.3 Q92529 SHC3_HUMAN SHC (Src homology 2 domain containing) transforming protein 3 169 PID. central nervous system development|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction cytosol protein binding|signal transducer activity breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|skin(3) 28 AGAGACCTCATTGAGCGCAGA 0.413000 32 61 0 0 1 0 0 MYOM1 8736 broad.mit.edu 37 18 3188882 3188882 + Missense_Mutation SNP C C T TCGA-TM-A7C5-01A-11D-A32B-08 TCGA-TM-A7C5-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64adb394-e415-4156-929b-da1b13c26af4 474aa4ed-af9d-4973-965e-d1217db30a43 g.chr18:3188882C>T ENST00000400569.3 - 4 968 c.635G>A c.(634-636)aGg>aAg p.R212K MYOM1_ENST00000356443.4_Missense_Mutation_p.R212K|MYOM1_ENST00000261606.7_Missense_Mutation_p.R212K P52179 MYOM1_HUMAN myomesin 1 212 6 X 6 AA tandem repeats. striated muscle myosin thick filament structural constituent of muscle p.R212K(1) NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 77 CGTGGACTGCCTGGATGCCGT 0.517000 3 61 0 0 1 0 0 CIB1 10519 broad.mit.edu 37 15 90774627 90774627 + Missense_Mutation SNP G G A rs147405990 byFrequency TCGA-TM-A7C5-01A-11D-A32B-08 TCGA-TM-A7C5-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64adb394-e415-4156-929b-da1b13c26af4 474aa4ed-af9d-4973-965e-d1217db30a43 g.chr15:90774627G>A ENST00000328649.6 - 4 469 c.308C>T c.(307-309)aCg>aTg p.T103M NM_006384.3 NP_006375.2 Q99828 CIB1_HUMAN calcium and integrin binding 1 (calmyrin) 103 EF-hand 1. apoptosis|cell adhesion|double-strand break repair apical plasma membrane|endoplasmic reticulum|filopodium|nucleoplasm calcium ion binding|protein binding lung(1)|prostate(1) 2 Melanoma(11;0.00551)|Lung NSC(78;0.0141)|all_lung(78;0.0303) BRCA - Breast invasive adenocarcinoma(143;0.00269)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.217) GATGTCTGGCGTGGCTGTGTC 0.572000 18 7 0 0 1 0 0 METTL14 57721 broad.mit.edu 37 4 119626790 119626790 + Missense_Mutation SNP G G A TCGA-TM-A7C5-01A-11D-A32B-08 TCGA-TM-A7C5-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64adb394-e415-4156-929b-da1b13c26af4 474aa4ed-af9d-4973-965e-d1217db30a43 g.chr4:119626790G>A ENST00000388822.4 + 10 1047 c.880G>A c.(880-882)Gga>Aga p.G294R METTL14_ENST00000506780.1_Missense_Mutation_p.G256R Q9HCE5 MTL14_HUMAN methyltransferase like 14 294 nucleus mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|stomach(1) 16 GGGGATCAAAGGAACTGTGAA 0.388000 10 56 0 0 1 0 0 LATS2 26524 broad.mit.edu 37 13 21557518 21557518 + Missense_Mutation SNP G G A TCGA-TM-A7C5-01A-11D-A32B-08 TCGA-TM-A7C5-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64adb394-e415-4156-929b-da1b13c26af4 474aa4ed-af9d-4973-965e-d1217db30a43 g.chr13:21557518G>A ENST00000382592.4 - 5 2732 c.2327C>T c.(2326-2328)aCt>aTt p.T776I LATS2_ENST00000542899.1_Missense_Mutation_p.T776I NM_014572.2 NP_055387.2 Q9NRM7 LATS2_HUMAN large tumor suppressor kinase 2 776 Protein kinase. cell division|G1/S transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|intracellular protein kinase cascade|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity microtubule organizing center|nucleus|spindle pole ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity breast(4)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(2) 45 all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244) all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104) AATGGCCAAAGTCAGCTCTGC 0.502000 3 47 0 0 1 0 0 ATRN 8455 broad.mit.edu 37 20 3615007 3615007 + Nonsense_Mutation SNP C C T TCGA-TM-A7C5-01A-11D-A32B-08 TCGA-TM-A7C5-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64adb394-e415-4156-929b-da1b13c26af4 474aa4ed-af9d-4973-965e-d1217db30a43 g.chr20:3615007C>T ENST00000262919.5 + 26 3981 c.3913C>T c.(3913-3915)Caa>Taa p.Q1305* NM_139321.2 NP_647537.1 O75882 ATRN_HUMAN attractin 1305 inflammatory response extracellular space|integral to plasma membrane receptor activity|sugar binding breast(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 59 GAAGATCAAACAAAGTTGTTG 0.443000 17 46 0 0 1 0 0 IGHG4 0 broad.mit.edu 37 14 106091267 106091267 + RNA SNP C C T TCGA-TM-A7C5-01A-11D-A32B-08 TCGA-TM-A7C5-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64adb394-e415-4156-929b-da1b13c26af4 474aa4ed-af9d-4973-965e-d1217db30a43 g.chr14:106091267C>T ENST00000390543.2 - 0 626 CGATGGAGGACGGGAGGCCTT 0.612000 128 362 0 0 1 0 0 NR2F1 7025 broad.mit.edu 37 5 92929289 92929289 + Missense_Mutation SNP C C T TCGA-TM-A7C5-01A-11D-A32B-08 TCGA-TM-A7C5-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64adb394-e415-4156-929b-da1b13c26af4 474aa4ed-af9d-4973-965e-d1217db30a43 g.chr5:92929289C>T ENST00000327111.3 + 3 2700 c.1013C>T c.(1012-1014)gCg>gTg p.A338V NR2F1_ENST00000506162.1_3'UTR NM_005654.4 NP_005645.1 P10589 COT1_HUMAN nuclear receptor subfamily 2, group F, member 1 338 negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding NS(1)|breast(1)|endometrium(4)|large_intestine(6)|lung(2)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2) 21 all_cancers(142;1.62e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19) UCEC - Uterine corpus endometrioid carcinoma (5;0.0416)|all cancers(79;9.57e-18) CTGTCGGATGCGGCCCACATC 0.592000 4 201 0 0 1 0 0 LCT 3938 broad.mit.edu 37 2 136569943 136569943 + Missense_Mutation SNP T T A TCGA-TM-A7C5-01A-11D-A32B-08 TCGA-TM-A7C5-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64adb394-e415-4156-929b-da1b13c26af4 474aa4ed-af9d-4973-965e-d1217db30a43 g.chr2:136569943T>A ENST00000264162.2 - 7 2301 c.2291A>T c.(2290-2292)aAt>aTt p.N764I NM_002299.2 NP_002290.2 P09848 LPH_HUMAN lactase 764 4 X approximate repeats. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|integral to plasma membrane|membrane fraction cation binding|glycosylceramidase activity|lactase activity breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4) 124 BRCA - Breast invasive adenocarcinoma(221;0.169) ATCAAAGAGATTTTCACTTTC 0.433000 19 160 0 0 1 0 0 HOMER1 9456 broad.mit.edu 37 5 78752755 78752755 + Missense_Mutation SNP G G A TCGA-TM-A7C5-01A-11D-A32B-08 TCGA-TM-A7C5-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64adb394-e415-4156-929b-da1b13c26af4 474aa4ed-af9d-4973-965e-d1217db30a43 g.chr5:78752755G>A ENST00000334082.6 - 2 1534 c.92C>T c.(91-93)gCa>gTa p.A31V HOMER1_ENST00000282260.6_Missense_Mutation_p.A31V|HOMER1_ENST00000535690.1_Intron|HOMER1_ENST00000508576.1_Missense_Mutation_p.A31V NM_004272.3 NP_004263.1 Q86YM7 HOME1_HUMAN homer homolog 1 (Drosophila) 31 WH1. activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission cell junction|integral to plasma membrane|postsynaptic density|postsynaptic membrane endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|prostate(2)|skin(1) 14 Lung NSC(167;0.00131)|all_lung(232;0.00151)|Ovarian(174;0.0261)|Prostate(461;0.191) OV - Ovarian serous cystadenocarcinoma(54;1.87e-44)|Epithelial(54;7.07e-41)|all cancers(79;5.5e-36) CACAGTAACTGCATGCTTGCT 0.423000 4 206 0 0 1 0 0 NDUFAF4 29078 broad.mit.edu 37 6 97344686 97344686 + Missense_Mutation SNP A A T TCGA-TM-A7C5-01A-11D-A32B-08 TCGA-TM-A7C5-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64adb394-e415-4156-929b-da1b13c26af4 474aa4ed-af9d-4973-965e-d1217db30a43 g.chr6:97344686A>T ENST00000316149.7 - 2 253 c.174T>A c.(172-174)gaT>gaA p.D58E NDUFAF4_ENST00000489477.1_5'UTR NM_014165.3 NP_054884.1 Q9P032 NDUF4_HUMAN NADH dehydrogenase (ubiquinone) complex I, assembly factor 4 58 mitochondrial respiratory chain complex I assembly mitochondrial membrane calmodulin binding large_intestine(5)|lung(3)|ovary(1)|skin(1) 10 GCAGCTTTTCATCTTTACGAG 0.333000 10 143 0 0 1 0 0 HIST1H2BB 3018 broad.mit.edu 37 6 26043725 26043725 + Missense_Mutation SNP C C T TCGA-TM-A7C5-01A-11D-A32B-08 TCGA-TM-A7C5-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64adb394-e415-4156-929b-da1b13c26af4 474aa4ed-af9d-4973-965e-d1217db30a43 g.chr6:26043725C>T ENST00000357905.2 - 1 160 c.161G>A c.(160-162)gGc>gAc p.G54D NM_021062.2 NP_066406.1 P33778 H2B1B_HUMAN histone cluster 1, H2bb 54 nucleosome assembly nucleosome|nucleus DNA binding endometrium(1)|kidney(1)|large_intestine(2)|lung(3) 7 GGATGAGATGCCGGTGTCGGG 0.547000 5 234 0 0 1 0 0 SLC35A3 23443 broad.mit.edu 37 1 100477024 100477024 + Missense_Mutation SNP G G A TCGA-TM-A7C5-01A-11D-A32B-08 TCGA-TM-A7C5-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64adb394-e415-4156-929b-da1b13c26af4 474aa4ed-af9d-4973-965e-d1217db30a43 g.chr1:100477024G>A ENST00000465289.1 + 5 961 c.569G>A c.(568-570)gGg>gAg p.G190E SLC35A3_ENST00000370153.1_Missense_Mutation_p.G232E|SLC35A3_ENST00000370156.3_3'UTR|SLC35A3_ENST00000370155.3_Missense_Mutation_p.G190E|SLC35A3_ENST00000427993.2_Missense_Mutation_p.G190E NM_001271684.1 NP_001258613.1 Q9Y2D2 S35A3_HUMAN solute carrier family 35 (UDP-N-acetylglucosamine (UDP-GlcNAc) transporter), member A3 190 UDP-N-acetylglucosamine metabolic process Golgi membrane|integral to membrane sugar:hydrogen symporter activity|UDP-N-acetylglucosamine transmembrane transporter activity p.G190E(1) biliary_tract(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1) 11 all_epithelial(167;0.000686)|all_lung(203;0.0154)|Lung NSC(277;0.0155) Epithelial(280;0.124)|all cancers(265;0.198)|Lung(183;0.199) GGCTTTGCTGGGGTTTACTTT 0.338000 12 25 0 0 1 0 0 RTP3 83597 broad.mit.edu 37 3 46542360 46542360 + Missense_Mutation SNP G G A TCGA-TM-A7C5-01A-11D-A32B-08 TCGA-TM-A7C5-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64adb394-e415-4156-929b-da1b13c26af4 474aa4ed-af9d-4973-965e-d1217db30a43 g.chr3:46542360G>A ENST00000296142.3 + 2 1242 c.670G>A c.(670-672)Gtg>Atg p.V224M NM_031440.1 NP_113628.1 Q9BQQ7 RTP3_HUMAN receptor (chemosensory) transporter protein 3 224 detection of chemical stimulus involved in sensory perception of bitter taste|protein targeting to membrane cytoplasm|integral to membrane protein binding endometrium(1)|lung(4)|ovary(3)|prostate(1)|urinary_tract(1) 10 BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0173)|Kidney(197;0.0204) CATTGTTATCGTGGTGATTGT 0.378000 16 54 0 0 1 0 0 XRCC5 7520 broad.mit.edu 37 2 216977761 216977761 + Missense_Mutation SNP A A G TCGA-TM-A7C5-01A-11D-A32B-08 TCGA-TM-A7C5-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64adb394-e415-4156-929b-da1b13c26af4 474aa4ed-af9d-4973-965e-d1217db30a43 g.chr2:216977761A>G ENST00000392133.3 + 4 505 c.44A>G c.(43-45)gAc>gGc p.D15G XRCC5_ENST00000392132.2_Missense_Mutation_p.D15G P13010 XRCC5_HUMAN X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining) 15 MDV -> YSY (in Ref. 10; AA sequence). double-strand break repair via nonhomologous end joining|initiation of viral infection|negative regulation of transcription, DNA-dependent|provirus integration|telomere maintenance|transcription, DNA-dependent Ku70:Ku80 complex|nonhomologous end joining complex|nuclear telomere cap complex|nucleoplasm ATP binding|ATP-dependent DNA helicase activity|double-stranded DNA binding|protein C-terminus binding|telomeric DNA binding|transcription regulatory region DNA binding endometrium(1)|kidney(3)|large_intestine(8)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 24 Renal(323;0.0328) Epithelial(149;9.78e-06)|all cancers(144;0.000632)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.0117) CTGTGTATGGACGTGGGCTTT 0.408000 Non-homologous end-joining 54 70 0 0 1 0 0 IDH1 3417 broad.mit.edu 37 2 209113112 209113112 + Missense_Mutation SNP C C T rs121913500 TCGA-TM-A7C5-01A-11D-A32B-08 TCGA-TM-A7C5-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64adb394-e415-4156-929b-da1b13c26af4 474aa4ed-af9d-4973-965e-d1217db30a43 g.chr2:209113112C>T ENST00000415913.1 - 4 776 c.395G>A c.(394-396)cGt>cAt p.R132H IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H O75874 IDHC_HUMAN isocitrate dehydrogenase 1 (NADP+), soluble 132 R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). 2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle cytosol|peroxisomal matrix isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1) NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1) 4887 Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136) ATAAGCATGACGACCTATGAT 0.393000 Mis gliobastoma 23 32 0 0 1 0 0 COL4A4 1286 broad.mit.edu 37 2 227886828 227886828 + Silent SNP C C T rs75398993 by1000genomes TCGA-TM-A7C5-01A-11D-A32B-08 TCGA-TM-A7C5-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64adb394-e415-4156-929b-da1b13c26af4 474aa4ed-af9d-4973-965e-d1217db30a43 g.chr2:227886828C>T ENST00000396625.3 - 44 4359 c.4152G>A c.(4150-4152)gcG>gcA p.A1384A COL4A4_ENST00000329662.7_Silent_p.A1381A NM_000092.4 NP_000083.3 P53420 CO4A4_HUMAN collagen, type IV, alpha 4 1384 Triple-helical region. axon guidance|glomerular basement membrane development basal lamina|collagen type IV extracellular matrix structural constituent|protein binding breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 98 Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242) Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181) TCATGCCTGGCGCCCCAGGAA 0.567000 79 168 0 0 1 0 0 PALM2-AKAP2 0 broad.mit.edu 37 9 112918685 112918685 + Missense_Mutation SNP G G A TCGA-TM-A7C5-01A-11D-A32B-08 TCGA-TM-A7C5-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64adb394-e415-4156-929b-da1b13c26af4 474aa4ed-af9d-4973-965e-d1217db30a43 g.chr9:112918685G>A ENST00000374530.3 + 9 3262 c.3082G>A c.(3082-3084)Gga>Aga p.G1028R AKAP2_ENST00000482335.1_Intron|AKAP2_ENST00000374525.1_Missense_Mutation_p.G886R|AKAP2_ENST00000510514.5_Missense_Mutation_p.G1028R|PALM2-AKAP2_ENST00000302798.7_Missense_Mutation_p.G1028R|AKAP2_ENST00000434623.2_Missense_Mutation_p.G886R|AKAP2_ENST00000555236.1_Missense_Mutation_p.G1028R|AKAP2_ENST00000259318.7_Missense_Mutation_p.G797R NM_007203.4|NM_147150.2 NP_009134.1|NP_671492.1 Q9Y2D5 AKAP2_HUMAN 797 enzyme binding breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 44 AGAGGCTGCCGGAACCCAGCG 0.507000 13 59 0 0 1 0 0 VWA3A 146177 broad.mit.edu 37 16 22161160 22161160 + Missense_Mutation SNP G G A TCGA-TM-A7C5-01A-11D-A32B-08 TCGA-TM-A7C5-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64adb394-e415-4156-929b-da1b13c26af4 474aa4ed-af9d-4973-965e-d1217db30a43 g.chr16:22161160G>A ENST00000389397.4 + 30 3205 c.343G>A c.(343-345)Gtg>Atg p.V115M VWA3A_ENST00000563755.1_Missense_Mutation_p.V115M|VWA3A_ENST00000389398.5_Missense_Mutation_p.V1013M A6NCI4 VWA3A_HUMAN von Willebrand factor A domain containing 3A 1013 extracellular region haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1) 7 GBM - Glioblastoma multiforme(48;0.0439) GGACACGCTGGTGGAGACCAC 0.557000 5 14 0 0 1 0 0 SLC12A7 10723 broad.mit.edu 37 5 1057736 1057736 + Missense_Mutation SNP G G A TCGA-TM-A7C5-01A-11D-A32B-08 TCGA-TM-A7C5-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64adb394-e415-4156-929b-da1b13c26af4 474aa4ed-af9d-4973-965e-d1217db30a43 g.chr5:1057736G>A ENST00000264930.5 - 22 2919 c.2876C>T c.(2875-2877)gCg>gTg p.A959V NM_006598.2 NP_006589.2 Q9Y666 S12A7_HUMAN solute carrier family 12 (potassium/chloride transporter), member 7 959 potassium ion transport|sodium ion transport integral to plasma membrane potassium:chloride symporter activity breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2) 32 Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09) Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165) Potassium Chloride(DB00761) GGTGTGGGACGCGGTGTTCCT 0.662000 17 175 0 0 1 0 0 CSAG4 0 broad.mit.edu 37 X 151896231 151896231 + RNA SNP A A G TCGA-TM-A7C5-01A-11D-A32B-08 TCGA-TM-A7C5-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64adb394-e415-4156-929b-da1b13c26af4 474aa4ed-af9d-4973-965e-d1217db30a43 g.chrX:151896231A>G ENST00000361201.4 - 0 499 NR_073432.1 endometrium(2)|kidney(2)|lung(1) 5 GAGTGGCTGGATAGTGTTGGC 0.517000 3 12 0 0 1 0 0 ZFP36L1 677 broad.mit.edu 37 14 69256928 69256928 + Silent SNP G G A TCGA-TM-A7C5-01A-11D-A32B-08 TCGA-TM-A7C5-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64adb394-e415-4156-929b-da1b13c26af4 474aa4ed-af9d-4973-965e-d1217db30a43 g.chr14:69256928G>A ENST00000439696.2 - 2 640 c.339C>T c.(337-339)agC>agT p.S113S ZFP36L1_ENST00000336440.3_Silent_p.S113S|ZFP36L1_ENST00000555997.1_3'UTR NM_001244701.1|NM_004926.3 NP_001231630.1|NP_004917.2 Q07352 TISB_HUMAN ZFP36 ring finger protein-like 1 113 regulation of mRNA stability cytosol|nucleus DNA binding|mRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(4)|kidney(1)|large_intestine(1)|liver(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(1) 21 all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401) TCTTGTAGCGGCTGGAGTTGA 0.672000 OREG0022753 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 170 0 0 1 0 0 CRHR2 1395 broad.mit.edu 37 7 30693212 30693212 + Missense_Mutation SNP C C T TCGA-TM-A7C5-01A-11D-A32B-08 TCGA-TM-A7C5-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64adb394-e415-4156-929b-da1b13c26af4 474aa4ed-af9d-4973-965e-d1217db30a43 g.chr7:30693212C>T ENST00000471646.1 - 12 1517 c.1100G>A c.(1099-1101)cGc>cAc p.R367H CRHR2_ENST00000506074.2_3'UTR|CRHR2_ENST00000348438.4_Missense_Mutation_p.R394H|CRHR2_ENST00000341843.4_Missense_Mutation_p.R353H NM_001202482.1|NM_001202483.1|NM_001883.4 NP_001189411.1|NP_001189412.1|NP_001874.2 Q13324 CRFR2_HUMAN corticotropin releasing hormone receptor 2 367 G-protein signaling, coupled to cAMP nucleotide second messenger integral to plasma membrane corticotrophin-releasing factor receptor activity|protein binding p.R367H(1) breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 CACGGCTGAGCGCACCTGTGG 0.642000 11 54 0 0 1 0 0 SVEP1 79987 broad.mit.edu 37 9 113238566 113238566 + Silent SNP G G A TCGA-TM-A7C5-01A-11D-A32B-08 TCGA-TM-A7C5-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64adb394-e415-4156-929b-da1b13c26af4 474aa4ed-af9d-4973-965e-d1217db30a43 g.chr9:113238566G>A ENST00000401783.2 - 14 2853 c.2517C>T c.(2515-2517)gaC>gaT p.D839D SVEP1_ENST00000374461.1_Silent_p.D816D|SVEP1_ENST00000374469.1_Silent_p.D816D|SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000302728.8_Silent_p.D839D NM_153366.3 NP_699197.3 Q4LDE5 SVEP1_HUMAN sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 839 cell adhesion cytoplasm|extracellular region|membrane calcium ion binding NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4) 147 TGCAGTCAATGTCCTCTGCAT 0.373000 20 101 0 0 1 0 0 FAM172A 83989 broad.mit.edu 37 5 93386527 93386527 + Nonsense_Mutation SNP A A C TCGA-TM-A7C5-01A-11D-A32B-08 TCGA-TM-A7C5-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64adb394-e415-4156-929b-da1b13c26af4 474aa4ed-af9d-4973-965e-d1217db30a43 g.chr5:93386527A>C ENST00000395965.3 - 4 360 c.218T>G c.(217-219)tTa>tGa p.L73* FAM172A_ENST00000509739.1_Intron|FAM172A_ENST00000504768.2_5'UTR|FAM172A_ENST00000509163.1_Nonsense_Mutation_p.L27*|FAM172A_ENST00000505869.1_Nonsense_Mutation_p.L27* NM_032042.5 NP_114431.2 Q8WUF8 F172A_HUMAN family with sequence similarity 172, member A 73 endoplasmic reticulum|extracellular region endometrium(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1) 9 TATGTGTCTTAACTGTCCCTC 0.328000 62 72 0 0 1 0 0 CIC 23152 broad.mit.edu 37 19 42791869 42791869 + Missense_Mutation SNP T T C TCGA-TM-A7C5-01A-11D-A32B-08 TCGA-TM-A7C5-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64adb394-e415-4156-929b-da1b13c26af4 474aa4ed-af9d-4973-965e-d1217db30a43 g.chr19:42791869T>C ENST00000572681.2 + 6 3550 c.3482T>C c.(3481-3483)cTg>cCg p.L1161P CIC_ENST00000160740.3_Missense_Mutation_p.L252P|CIC_ENST00000575354.2_Missense_Mutation_p.L252P Q96RK0 CIC_HUMAN capicua transcriptional repressor 252 Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 82 Prostate(69;0.00682) TACCACGACCTGGCCTTCCAG 0.617000 """Mis, F, S""" oligodendroglioma 18 16 0 0 1 0 0 MID2 11043 broad.mit.edu 37 X 107084062 107084062 + Missense_Mutation SNP G G A TCGA-TM-A7C5-01A-11D-A32B-08 TCGA-TM-A7C5-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64adb394-e415-4156-929b-da1b13c26af4 474aa4ed-af9d-4973-965e-d1217db30a43 g.chrX:107084062G>A ENST00000262843.6 + 2 715 c.167G>A c.(166-168)cGc>cAc p.R56H MID2_ENST00000443968.2_Missense_Mutation_p.R56H NM_012216.3|NM_052817.2 NP_036348.2|NP_438112.2 Q9UJV3 TRIM1_HUMAN midline 2 56 centrosome|microtubule ligase activity|zinc ion binding p.R36H(1) breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(2) 19 TGTGCCCATCGCATTTTGGTA 0.517000 77 62 0 0 1 0 0 PCDHGB4 0 broad.mit.edu 37 5 140769051 140769051 + Missense_Mutation SNP G G A TCGA-TM-A7C5-01A-11D-A32B-08 TCGA-TM-A7C5-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64adb394-e415-4156-929b-da1b13c26af4 474aa4ed-af9d-4973-965e-d1217db30a43 g.chr5:140769051G>A ENST00000519479.1 + 1 1600 c.1600G>A c.(1600-1602)Gac>Aac p.D534N PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_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) GCAGGCCCGCGACCAGGGCTC 0.682000 12 31 0 0 1 0 0 TOX 9760 broad.mit.edu 37 8 59750659 59750659 + Nonsense_Mutation SNP A A C TCGA-TM-A7C5-01A-11D-A32B-08 TCGA-TM-A7C5-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64adb394-e415-4156-929b-da1b13c26af4 474aa4ed-af9d-4973-965e-d1217db30a43 g.chr8:59750659A>C ENST00000361421.1 - 5 1125 c.905T>G c.(904-906)tTa>tGa p.L302* NM_014729.2 NP_055544.1 O94900 TOX_HUMAN thymocyte selection-associated high mobility group box 302 nucleus DNA binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(13)|prostate(1)|skin(2)|stomach(1) 33 all_cancers(86;0.165)|Myeloproliferative disorder(644;0.00452)|all_lung(136;0.036)|Lung NSC(129;0.0464)|all_epithelial(80;0.0607) CTCTTCTCCTAAACCGTCCCA 0.483000 43 45 0 0 1 0 0 FMN2 56776 broad.mit.edu 37 1 240371406 240371406 + Silent SNP T T A TCGA-TM-A7C5-01A-11D-A32B-08 TCGA-TM-A7C5-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64adb394-e415-4156-929b-da1b13c26af4 474aa4ed-af9d-4973-965e-d1217db30a43 g.chr1:240371406T>A ENST00000319653.9 + 5 3524 c.3294T>A c.(3292-3294)ccT>ccA p.P1098P NM_020066.4 NP_064450.3 Q9NZ56 FMN2_HUMAN formin 2 1098 FH1.|Pro-rich. actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions actin binding NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2) 178 Ovarian(103;0.127) all_cancers(173;0.013) OV - Ovarian serous cystadenocarcinoma(106;0.0106) GCATACCCCCTCCGCCCCCTC 0.731000 5 19 0 0 1 0 0 MAP1A 4130 broad.mit.edu 37 15 43819305 43819305 + Nonsense_Mutation SNP G G A TCGA-TM-A7C5-01A-11D-A32B-08 TCGA-TM-A7C5-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64adb394-e415-4156-929b-da1b13c26af4 474aa4ed-af9d-4973-965e-d1217db30a43 g.chr15:43819305G>A ENST00000382031.1 + 5 6379 c.6348G>A c.(6346-6348)tgG>tgA p.W2116* MAP1A_ENST00000300231.5_Nonsense_Mutation_p.W1878*|MAP1A_ENST00000399453.1_Nonsense_Mutation_p.W1878* P78559 MAP1A_HUMAN microtubule-associated protein 1A 1878 cytoplasm|microtubule|microtubule associated complex protein binding|structural molecule activity breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 66 all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;3.05e-06) Estramustine(DB01196) CCTTCTCTTGGGGCACAGCCG 0.662000 4 26 0 0 1 0 0 EPHB4 2050 broad.mit.edu 37 7 100421309 100421309 + Missense_Mutation SNP G G T TCGA-TM-A7C5-01A-11D-A32B-08 TCGA-TM-A7C5-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64adb394-e415-4156-929b-da1b13c26af4 474aa4ed-af9d-4973-965e-d1217db30a43 g.chr7:100421309G>T ENST00000358173.3 - 3 836 c.368C>A c.(367-369)gCc>gAc p.A123D EPHB4_ENST00000360620.3_Missense_Mutation_p.A123D|EPHB4_ENST00000477446.1_5'UTR NM_004444.4 NP_004435.3 P54760 EPHB4_HUMAN EPH receptor B4 123 cell proliferation|organ morphogenesis|regulation of angiogenesis cell surface|integral to plasma membrane ATP binding|ephrin receptor activity breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3) 47 Lung NSC(181;0.041)|all_lung(186;0.0581) GAGGGCCGTGGCCGTGTCCGC 0.647000 28 37 2.61193e-14 2.67267e-14 1 1 0 CPAMD8 27151 broad.mit.edu 37 19 17015067 17015067 + Missense_Mutation SNP C C T TCGA-TM-A7C5-01A-11D-A32B-08 TCGA-TM-A7C5-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64adb394-e415-4156-929b-da1b13c26af4 474aa4ed-af9d-4973-965e-d1217db30a43 g.chr19:17015067C>T ENST00000443236.1 - 32 4392 c.4361G>A c.(4360-4362)cGa>cAa p.R1454Q NM_015692.2 NP_056507.2 Q8IZJ3 CPMD8_HUMAN C3 and PZP-like, alpha-2-macroglobulin domain containing 8 1407 extracellular space|plasma membrane serine-type endopeptidase inhibitor activity breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5) 82 AAGTGCATTTCGCTGCTGGGA 0.652000 5 22 0 0 1 0 0 UTRN 7402 broad.mit.edu 37 6 144835835 144835835 + Missense_Mutation SNP G G A rs115466543 by1000genomes TCGA-TM-A7C5-01A-11D-A32B-08 TCGA-TM-A7C5-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64adb394-e415-4156-929b-da1b13c26af4 474aa4ed-af9d-4973-965e-d1217db30a43 g.chr6:144835835G>A ENST00000367545.3 + 36 5123 c.5123G>A c.(5122-5124)cGc>cAc p.R1708H NM_007124.2 NP_009055.2 P46939 UTRO_HUMAN utrophin 1708 Interaction with SYNM. muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane actin binding|calcium ion binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 148 Ovarian(120;0.218) OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213) GAAAATGTCCGCGATCAAGCC 0.413000 29 156 0 0 1 0 0 LINC00969 0 broad.mit.edu 37 3 195400918 195400919 + RNA INS - - T rs55992531 by1000genomes TCGA-TM-A7C5-01A-11D-A32B-08 TCGA-TM-A7C5-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64adb394-e415-4156-929b-da1b13c26af4 474aa4ed-af9d-4973-965e-d1217db30a43 g.chr3:195400918_195400919insT ENST00000445430.1 + 0 1454 AGTCttttttctttttttttga 0.525 6 10 --- --- --- --- HIST1H1E 3008 broad.mit.edu 37 6 26156983 26156984 + Frame_Shift_Del DEL AG AG - TCGA-TM-A7C5-01A-11D-A32B-08 TCGA-TM-A7C5-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64adb394-e415-4156-929b-da1b13c26af4 474aa4ed-af9d-4973-965e-d1217db30a43 g.chr6:26156983_26156984delAG ENST00000304218.3 + 1 425_426 c.365_366delAG c.(364-366)afs p.K122fs NM_005321.2 NP_005312.1 P10412 H14_HUMAN histone cluster 1, H1e 122 nucleosome assembly nucleosome|nucleus DNA binding|protein binding NS(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|liver(1)|lung(9)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 26 AAGGCTAAAAAGGCAGGCGCGG 0.639 7 45 --- --- --- --- SNAPC4 6621 broad.mit.edu 37 9 139277995 139277997 + In_Frame_Del DEL GCT GCT - rs34222232 TCGA-TM-A7C5-01A-11D-A32B-08 TCGA-TM-A7C5-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64adb394-e415-4156-929b-da1b13c26af4 474aa4ed-af9d-4973-965e-d1217db30a43 g.chr9:139277995_139277997delGCT ENST00000298532.2 - 15 1992_1994 c.1624_1626delAGC c.(1624-1626)del p.S542del NM_003086.2 NP_003077.2 Q5SXM2 SNPC4_HUMAN small nuclear RNA activating complex, polypeptide 4, 190kDa 542 snRNA transcription from RNA polymerase II promoter|snRNA transcription from RNA polymerase III promoter snRNA-activating protein complex DNA binding|sequence-specific DNA binding transcription factor activity p.S542delS(2) biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1) 33 Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06) CGTCCTCCTCgctgctgctgctg 0.690 6 7 --- --- --- --- SNX29P2 0 broad.mit.edu 37 16 29337651 29337652 + RNA INS - - CAGAG rs140530121 by1000genomes TCGA-TM-A7C5-01A-11D-A32B-08 TCGA-TM-A7C5-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64adb394-e415-4156-929b-da1b13c26af4 474aa4ed-af9d-4973-965e-d1217db30a43 g.chr16:29337651_29337652insCAGAG ENST00000398878.3 + 0 724 CCCCGTTCACACCTGTTTCCTC 0.599 6 11 --- --- --- --- WWC3 55841 broad.mit.edu 37 X 10085617 10085617 + Frame_Shift_Del DEL G G - TCGA-TM-A7C5-01A-11D-A32B-08 TCGA-TM-A7C5-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64adb394-e415-4156-929b-da1b13c26af4 474aa4ed-af9d-4973-965e-d1217db30a43 g.chrX:10085617delG ENST00000380861.4 + 11 1909 c.1518delG c.(1516-1518)atfs p.M506fs WWC3_ENST00000454666.1_Frame_Shift_Del_p.M506fs NM_015691.3 NP_056506.2 Q9ULE0 WWC3_HUMAN WWC family member 3 506 NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 52 CCTCGGCTATGGGGGACGAAG 0.721 2 4 --- --- --- ---