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 VCX3B 0 broad.mit.edu 37 X 8434346 8434346 + Silent SNP G G A rs808146 TCGA-HW-8322-01A-11D-2395-08 TCGA-HW-8322-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbb7361c-879c-4964-b6c8-07b5d8d4da46 088c5f2e-ee43-4263-9962-ef89954380a7 g.chrX:8434346G>A ENST00000381032.1 + 3 970 c.663G>A c.(661-663)gaG>gaA p.E221E VCX3B_ENST00000440654.2_Silent_p.E171E|VCX3B_ENST00000444481.1_Silent_p.E191E|VCX3B_ENST00000381029.4_Silent_p.E189E|VCX3B_ENST00000453306.1_Intron NM_001001888.3 NP_001001888.3 Q9H321 VCX3B_HUMAN variable charge, X-linked 3B 0 nucleolus NS(1)|large_intestine(1)|lung(2)|prostate(1)|skin(3)|urinary_tract(3) 11 GCCAGGTGGAGGAACCACTGA 0.557000 6 90 0 0 1 0 0 BCR 613 broad.mit.edu 37 22 23523557 23523557 + Missense_Mutation SNP C C T TCGA-HW-8322-01A-11D-2395-08 TCGA-HW-8322-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbb7361c-879c-4964-b6c8-07b5d8d4da46 088c5f2e-ee43-4263-9962-ef89954380a7 g.chr22:23523557C>T ENST00000305877.8 + 1 1161 c.410C>T c.(409-411)gCc>gTc p.A137V BCR_ENST00000398512.5_Missense_Mutation_p.A137V|BCR_ENST00000359540.3_Missense_Mutation_p.A137V NM_004327.3 NP_004318.3 P11274 BCR_HUMAN breakpoint cluster region 137 Kinase. regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol ATP binding|GTPase activator activity|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity BCR/JAK2(6) central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1) 35 CCCGGGGCAGCCGCGTCGGGG 0.801000 T """ABL1, FGFR1, JAK2 """ """CML, ALL, AML""" 3 37 0 0 1 0 0 ROBO1 6091 broad.mit.edu 37 3 78685111 78685111 + Missense_Mutation SNP C C T TCGA-HW-8322-01A-11D-2395-08 TCGA-HW-8322-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbb7361c-879c-4964-b6c8-07b5d8d4da46 088c5f2e-ee43-4263-9962-ef89954380a7 g.chr3:78685111C>T ENST00000436010.2 - 21 4065 c.3068G>A c.(3067-3069)cGt>cAt p.R1023H ROBO1_ENST00000495273.1_Missense_Mutation_p.R1017H|ROBO1_ENST00000467549.1_Intron|ROBO1_ENST00000464233.1_Missense_Mutation_p.R1062H Q9Y6N7 ROBO1_HUMAN roundabout, axon guidance receptor, homolog 1 (Drosophila) 1062 activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway cell surface|cytoplasm|integral to plasma membrane axon guidance receptor activity|identical protein binding|LRR domain binding p.R1039H(1) breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1) 44 Lung SC(41;0.0257)|Lung NSC(201;0.0439) LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274) ATTGACAAAACGCCCATCCTT 0.473000 60 70 0 0 1 0 0 ADSSL1 122622 broad.mit.edu 37 14 105209429 105209429 + Missense_Mutation SNP G G A TCGA-HW-8322-01A-11D-2395-08 TCGA-HW-8322-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbb7361c-879c-4964-b6c8-07b5d8d4da46 088c5f2e-ee43-4263-9962-ef89954380a7 g.chr14:105209429G>A ENST00000332972.5 + 10 1262 c.1103G>A c.(1102-1104)cGc>cAc p.R368H ADSSL1_ENST00000330877.2_Missense_Mutation_p.R325H NM_199165.1 NP_954634.1 Q8N142 PURA1_HUMAN adenylosuccinate synthase like 1 325 AMP biosynthetic process|immune system process|purine base metabolic process cytosol adenylosuccinate synthase activity|GTP binding|magnesium ion binding|phosphate binding central_nervous_system(1)|cervix(1)|kidney(1)|lung(5)|ovary(2)|prostate(1) 11 all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172) all cancers(16;0.00153)|OV - Ovarian serous cystadenocarcinoma(23;0.0148)|Epithelial(46;0.0396)|GBM - Glioblastoma multiforme(11;0.116) Epithelial(152;0.18) L-Aspartic Acid(DB00128) CTGCAGACCCGCGGCCACGAG 0.612000 44 66 0 0 1 0 0 METTL16 79066 broad.mit.edu 37 17 2371168 2371168 + Missense_Mutation SNP C C T TCGA-HW-8322-01A-11D-2395-08 TCGA-HW-8322-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbb7361c-879c-4964-b6c8-07b5d8d4da46 088c5f2e-ee43-4263-9962-ef89954380a7 g.chr17:2371168C>T ENST00000263092.5 - 5 599 c.472G>A c.(472-474)Gtg>Atg p.V158M METTL16_ENST00000538844.1_Intron|METTL16_ENST00000571669.1_5'UTR NM_024086.3 NP_076991.3 Q86W50 MET16_HUMAN methyltransferase like 16 158 methyltransferase activity kidney(2)|large_intestine(9)|lung(4)|ovary(2)|skin(1)|urinary_tract(1) 19 GGCACTTTCACCACTAGGAGA 0.398000 12 68 0 0 1 0 0 RAD17 5884 broad.mit.edu 37 5 68689027 68689027 + Missense_Mutation SNP T T C TCGA-HW-8322-01A-11D-2395-08 TCGA-HW-8322-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbb7361c-879c-4964-b6c8-07b5d8d4da46 088c5f2e-ee43-4263-9962-ef89954380a7 g.chr5:68689027T>C ENST00000509734.1 + 13 1946 c.1268T>C c.(1267-1269)tTa>tCa p.L423S RAD17_ENST00000358030.2_Missense_Mutation_p.L247S|RAD17_ENST00000354312.3_Missense_Mutation_p.L412S|RAD17_ENST00000521422.1_Missense_Mutation_p.L247S|RAD17_ENST00000305138.4_Missense_Mutation_p.L412S|RAD17_ENST00000282891.6_Missense_Mutation_p.L326S|RAD17_ENST00000345306.6_Missense_Mutation_p.L412S|RAD17_ENST00000361732.2_Missense_Mutation_p.L412S|RAD17_ENST00000354868.5_Missense_Mutation_p.L412S|RAD17_ENST00000504177.1_Intron|RAD17_ENST00000380774.3_Missense_Mutation_p.L423S O75943 RAD17_HUMAN RAD17 homolog (S. pombe) 423 cell cycle|DNA damage checkpoint|DNA repair|DNA replication|DNA replication checkpoint|mitotic cell cycle checkpoint|negative regulation of DNA replication|regulation of phosphorylation nucleoplasm ATP binding|nucleoside-triphosphatase activity|protein binding Lung NSC(167;5.19e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;9.36e-57)|Epithelial(20;1.21e-52)|all cancers(19;3.34e-48)|Lung(70;0.0183) CCCTCTCATTTATCAGAATAT 0.313000 Other conserved DNA damage response genes 13 20 0 0 1 0 0 APOL1 8542 broad.mit.edu 37 22 36661324 36661324 + Missense_Mutation SNP A A G TCGA-HW-8322-01A-11D-2395-08 TCGA-HW-8322-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbb7361c-879c-4964-b6c8-07b5d8d4da46 088c5f2e-ee43-4263-9962-ef89954380a7 g.chr22:36661324A>G ENST00000319136.4 + 7 757 c.490A>G c.(490-492)Aaa>Gaa p.K164E APOL1_ENST00000397278.3_Missense_Mutation_p.K148E|APOL1_ENST00000422706.1_Missense_Mutation_p.K148E|APOL1_ENST00000426053.1_Missense_Mutation_p.K130E|APOL1_ENST00000347595.7_Missense_Mutation_p.K27E|APOL1_ENST00000440669.2_3'UTR|APOL1_ENST00000397279.4_Missense_Mutation_p.K148E NM_145343.2 NP_663318.1 O14791 APOL1_HUMAN apolipoprotein L, 1 148 cholesterol metabolic process|cytolysis|innate immune response|killing of cells of other organism|lipid transport|lipoprotein metabolic process high-density lipoprotein particle|very-low-density lipoprotein particle chloride channel activity|lipid binding|protein binding breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2) 14 TCCTCGGTTGAAAAGTGAGCT 0.478000 62 93 0 0 1 0 0 REC8 9985 broad.mit.edu 37 14 24642224 24642224 + Missense_Mutation SNP A A G TCGA-HW-8322-01A-11D-2395-08 TCGA-HW-8322-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbb7361c-879c-4964-b6c8-07b5d8d4da46 088c5f2e-ee43-4263-9962-ef89954380a7 g.chr14:24642224A>G ENST00000311457.3 + 4 841 c.242A>G c.(241-243)tAt>tGt p.Y81C REC8_ENST00000559919.1_Missense_Mutation_p.Y81C O95072 REC8_HUMAN REC8 meiotic recombination protein 81 mitotic metaphase/anaphase transition|mitotic prometaphase|reciprocal meiotic recombination|sister chromatid cohesion nucleoplasm breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 15 GBM - Glioblastoma multiforme(265;0.00839) ATCCGCGTCTATTCTCAACAA 0.617000 52 78 0 0 1 0 0 C8B 732 broad.mit.edu 37 1 57417781 57417781 + Silent SNP C C T rs34438223 byFrequency TCGA-HW-8322-01A-11D-2395-08 TCGA-HW-8322-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbb7361c-879c-4964-b6c8-07b5d8d4da46 088c5f2e-ee43-4263-9962-ef89954380a7 g.chr1:57417781C>T ENST00000543257.1 - 6 1016 c.450G>A c.(448-450)ccG>ccA p.P150P C8B_ENST00000371237.4_Silent_p.P202P|C8B_ENST00000535057.1_Silent_p.P140P NM_001278543.1 NP_001265472.1 P07358 CO8B_HUMAN complement component 8, beta polypeptide 202 LDL-receptor class A. complement activation, alternative pathway|complement activation, classical pathway|cytolysis membrane attack complex p.P202P(1) breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1) 52 GGATGTAATGCGGGGAGCATC 0.507000 5 104 0 0 1 0 0 AC003958.2 0 broad.mit.edu 37 17 39580816 39580816 + RNA SNP G G C rs72485487 by1000genomes TCGA-HW-8322-01A-11D-2395-08 TCGA-HW-8322-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbb7361c-879c-4964-b6c8-07b5d8d4da46 088c5f2e-ee43-4263-9962-ef89954380a7 g.chr17:39580816G>C ENST00000432258.1 + 0 3405 AGATCAGCTGGGAAGGCTGAG 0.587000 4 71 0 0 1 0 0 BRAP 8315 broad.mit.edu 37 12 112110475 112110475 + Missense_Mutation SNP T T C rs150096881 TCGA-HW-8322-01A-11D-2395-08 TCGA-HW-8322-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbb7361c-879c-4964-b6c8-07b5d8d4da46 088c5f2e-ee43-4263-9962-ef89954380a7 g.chr12:112110475T>C ENST00000419234.4 - 5 930 c.737A>G c.(736-738)aAa>aGa p.K246R BRAP_ENST00000539060.1_Intron|BRAP_ENST00000327551.6_Missense_Mutation_p.K216R NM_006768.3 NP_006759.3 Q7Z569 BRAP_HUMAN BRCA1 associated protein 246 MAPKKK cascade|negative regulation of signal transduction|Ras protein signal transduction cytoplasm|ubiquitin ligase complex identical protein binding|nuclear localization sequence binding|nucleotide binding|ubiquitin-protein ligase activity|zinc ion binding cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1) 20 ATCTTCAGATTTGAGCACTTC 0.363000 27 46 0 0 1 0 0 IDH1 3417 broad.mit.edu 37 2 209113112 209113112 + Missense_Mutation SNP C C T rs121913500 TCGA-HW-8322-01A-11D-2395-08 TCGA-HW-8322-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbb7361c-879c-4964-b6c8-07b5d8d4da46 088c5f2e-ee43-4263-9962-ef89954380a7 g.chr2:209113112C>T ENST00000415913.1 - 4 776 c.395G>A c.(394-396)cGt>cAt p.R132H IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H O75874 IDHC_HUMAN isocitrate dehydrogenase 1 (NADP+), soluble 132 R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). 2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle cytosol|peroxisomal matrix isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1) NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1) 4887 Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136) ATAAGCATGACGACCTATGAT 0.393000 Mis gliobastoma 28 47 0 0 1 0 0 TBRG4 9238 broad.mit.edu 37 7 45144244 45144244 + Missense_Mutation SNP G G A rs146485929 byFrequency TCGA-HW-8322-01A-11D-2395-08 TCGA-HW-8322-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbb7361c-879c-4964-b6c8-07b5d8d4da46 088c5f2e-ee43-4263-9962-ef89954380a7 g.chr7:45144244G>A ENST00000258770.3 - 4 921 c.800C>T c.(799-801)gCt>gTt p.A267V TBRG4_ENST00000494076.1_Missense_Mutation_p.A267V|TBRG4_ENST00000395655.4_Intron|TBRG4_ENST00000361278.3_Intron NM_004749.3 NP_004740.2 Q969Z0 TBRG4_HUMAN transforming growth factor beta regulator 4 267 apoptosis|cell cycle arrest|cellular respiration|G1 phase of mitotic cell cycle|positive regulation of cell proliferation mitochondrion ATP binding|protein binding|protein kinase activity cervix(1)|endometrium(3)|large_intestine(2)|lung(8)|skin(1)|stomach(2) 17 CCGGCTCTGAGCTGCCAGCAT 0.612000 4 68 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29628283 29628283 + Silent SNP G G C TCGA-HW-8322-01A-11D-2395-08 TCGA-HW-8322-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbb7361c-879c-4964-b6c8-07b5d8d4da46 088c5f2e-ee43-4263-9962-ef89954380a7 g.chr20:29628283G>C ENST00000278882.3 + 6 665 c.285G>C c.(283-285)ggG>ggC p.G95G FRG1B_ENST00000358464.4_Silent_p.G95G|FRG1B_ENST00000439954.2_Silent_p.G100G p.G95G(4) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 ATGAAGCAGGGGACATAGAAG 0.378000 6 103 0 0 1 0 0 HUNK 30811 broad.mit.edu 37 21 33371363 33371363 + Missense_Mutation SNP A A C TCGA-HW-8322-01A-11D-2395-08 TCGA-HW-8322-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbb7361c-879c-4964-b6c8-07b5d8d4da46 088c5f2e-ee43-4263-9962-ef89954380a7 g.chr21:33371363A>C ENST00000270112.2 + 11 2371 c.2011A>C c.(2011-2013)Atg>Ctg p.M671L NM_014586.1 NP_055401.1 P57058 HUNK_HUMAN hormonally up-regulated Neu-associated kinase 671 multicellular organismal development|signal transduction ATP binding|protein serine/threonine kinase activity breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(2)|stomach(1) 30 CATCGGACAGATGTTAAGGAA 0.617000 5 122 0 0 1 0 0 SMARCA4 6597 broad.mit.edu 37 19 11143994 11143994 + Missense_Mutation SNP G G A TCGA-HW-8322-01A-11D-2395-08 TCGA-HW-8322-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbb7361c-879c-4964-b6c8-07b5d8d4da46 088c5f2e-ee43-4263-9962-ef89954380a7 g.chr19:11143994G>A ENST00000358026.2 + 26 3859 c.3575G>A c.(3574-3576)cGc>cAc p.R1192H SMARCA4_ENST00000344626.4_Missense_Mutation_p.R1192H|SMARCA4_ENST00000589677.1_Missense_Mutation_p.R1192H|SMARCA4_ENST00000444061.3_Missense_Mutation_p.R1192H|SMARCA4_ENST00000450717.3_Missense_Mutation_p.R1192H|SMARCA4_ENST00000541122.2_Missense_Mutation_p.R1192H|SMARCA4_ENST00000413806.3_Missense_Mutation_p.R1192H|SMARCA4_ENST00000590574.1_Missense_Mutation_p.R1192H|SMARCA4_ENST00000429416.3_Missense_Mutation_p.R1192H NM_001128849.1 NP_001122321.1 P51532 SMCA4_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 1192 Helicase C-terminal. chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity p.?(1) adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 163 all_lung(6;0.0512)|Lung NSC(9;0.0568) CGAGCCCACCGCATCGGGCAG 0.612000 """F, N, Mis""" NSCLC 33 70 0 0 1 0 0 GIPC1 10755 broad.mit.edu 37 19 14591417 14591417 + Silent SNP G G A TCGA-HW-8322-01A-11D-2395-08 TCGA-HW-8322-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbb7361c-879c-4964-b6c8-07b5d8d4da46 088c5f2e-ee43-4263-9962-ef89954380a7 g.chr19:14591417G>A ENST00000393033.4 - 5 731 c.462C>T c.(460-462)taC>taT p.Y154Y GIPC1_ENST00000345425.2_Silent_p.Y154Y|GIPC1_ENST00000393028.1_Silent_p.Y57Y|GIPC1_ENST00000586027.1_Silent_p.Y154Y|GIPC1_ENST00000393029.3_Silent_p.Y57Y|GIPC1_ENST00000591349.1_Silent_p.Y57Y NM_005716.3 NP_005707.1 O14908 GIPC1_HUMAN GIPC PDZ domain containing family, member 1 154 PDZ. endothelial cell migration|G-protein coupled receptor protein signaling pathway|glutamate secretion|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|protein targeting|regulation of protein stability|regulation of synaptic plasticity|synaptic transmission cell cortex|dendritic shaft|dendritic spine|membrane fraction|soluble fraction|synaptic vesicle|vesicle membrane actin binding|myosin binding|protein homodimerization activity|receptor binding endometrium(1)|lung(4)|upper_aerodigestive_tract(1) 6 TGATGAAGGCGTAGCCAGCCC 0.657000 OREG0025316 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 53 60 0 0 1 0 0 KCNN2 3781 broad.mit.edu 37 5 113698887 113698887 + Missense_Mutation SNP C C T TCGA-HW-8322-01A-11D-2395-08 TCGA-HW-8322-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbb7361c-879c-4964-b6c8-07b5d8d4da46 088c5f2e-ee43-4263-9962-ef89954380a7 g.chr5:113698887C>T ENST00000512097.3 + 2 1433 c.415C>T c.(415-417)Ctc>Ttc p.L139F KCNN2_ENST00000264773.3_Missense_Mutation_p.L139F|KCNN2_ENST00000507750.1_3'UTR Q9H2S1 KCNN2_HUMAN potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2 139 integral to membrane calmodulin binding|small conductance calcium-activated potassium channel activity breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206) OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195) CGACTACGCGCTCATCTTCGG 0.597000 17 51 0 0 1 0 0 EML5 161436 broad.mit.edu 37 14 89160703 89160703 + Silent SNP A A T TCGA-HW-8322-01A-11D-2395-08 TCGA-HW-8322-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbb7361c-879c-4964-b6c8-07b5d8d4da46 088c5f2e-ee43-4263-9962-ef89954380a7 g.chr14:89160703A>T ENST00000554922.1 - 17 2735 c.2487T>A c.(2485-2487)ccT>ccA p.P829P EML5_ENST00000380664.5_Silent_p.P829P|EML5_ENST00000352093.5_Silent_p.P829P NM_183387.2 NP_899243.1 Q05BV3 EMAL5_HUMAN echinoderm microtubule associated protein like 5 829 cytoplasm|microtubule breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 50 TTAGTTTATCAGGCACATAGG 0.308000 2 4 0 0 1 0 0 RBFOX1 54715 broad.mit.edu 37 16 7629894 7629894 + Missense_Mutation SNP G G T TCGA-HW-8322-01A-11D-2395-08 TCGA-HW-8322-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbb7361c-879c-4964-b6c8-07b5d8d4da46 088c5f2e-ee43-4263-9962-ef89954380a7 g.chr16:7629894G>T ENST00000340209.4 + 3 698 c.401G>T c.(400-402)cGg>cTg p.R134L RBFOX1_ENST00000547372.1_Missense_Mutation_p.R172L|RBFOX1_ENST00000535565.2_Intron|RBFOX1_ENST00000552089.1_Missense_Mutation_p.R164L|RBFOX1_ENST00000422070.4_Missense_Mutation_p.R172L|RBFOX1_ENST00000550418.1_Missense_Mutation_p.R129L|RBFOX1_ENST00000355637.4_Missense_Mutation_p.R149L|RBFOX1_ENST00000436368.2_Missense_Mutation_p.R149L|RBFOX1_ENST00000547338.1_Missense_Mutation_p.R129L|RBFOX1_ENST00000311745.5_Missense_Mutation_p.R149L|RBFOX1_ENST00000553186.1_Missense_Mutation_p.R129L Q9NWB1 RFOX1_HUMAN RNA binding protein, fox-1 homolog (C. elegans) 1 129 RRM. mRNA processing|RNA splicing|RNA transport nucleus|trans-Golgi network nucleotide binding|protein C-terminus binding|RNA binding breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2) 55 TTCAGGTTCCGGGATCCGGAC 0.542000 21 45 3.08376e-08 3.30403e-08 1 1 0 C1orf186 440712 broad.mit.edu 37 1 206243208 206243208 + Silent SNP G G A TCGA-HW-8322-01A-11D-2395-08 TCGA-HW-8322-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbb7361c-879c-4964-b6c8-07b5d8d4da46 088c5f2e-ee43-4263-9962-ef89954380a7 g.chr1:206243208G>A ENST00000331555.5 - 3 692 c.54C>T c.(52-54)tcC>tcT p.S18S NM_001007544.1 NP_001007545.1 Q6ZWK4 CA186_HUMAN chromosome 1 open reading frame 186 18 integral to membrane breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1) 9 BRCA - Breast invasive adenocarcinoma(75;0.0754) GCAGGAAGAGGGACACCACCG 0.527000 31 47 0 0 1 0 0 SERPINE1 5054 broad.mit.edu 37 7 100779018 100779018 + Silent SNP G G A TCGA-HW-8322-01A-11D-2395-08 TCGA-HW-8322-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbb7361c-879c-4964-b6c8-07b5d8d4da46 088c5f2e-ee43-4263-9962-ef89954380a7 g.chr7:100779018G>A ENST00000223095.4 + 7 1180 c.1023G>A c.(1021-1023)gcG>gcA p.A341A SERPINE1_ENST00000445463.2_Silent_p.A326A NM_000602.4 NP_000593.1 P05121 PAI1_HUMAN serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1 341 angiogenesis|cellular response to chemical stimulus|cellular response to lipopolysaccharide|chronological cell aging|defense response to Gram-negative bacterium|fibrinolysis|negative regulation of apoptosis|negative regulation of cell adhesion mediated by integrin|negative regulation of fibrinolysis|negative regulation of plasminogen activation|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell-matrix adhesion|negative regulation of vascular wound healing|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of interleukin-8 production|positive regulation of leukotriene production involved in inflammatory response|positive regulation of monocyte chemotaxis|positive regulation of receptor-mediated endocytosis|regulation of receptor activity extracellular matrix|extracellular space|plasma membrane|platelet alpha granule lumen protease binding|serine-type endopeptidase inhibitor activity central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(3) 20 Lung NSC(181;0.136)|all_lung(186;0.182) Atorvastatin(DB01076)|Dimethyl sulfoxide(DB01093)|Drotrecogin alfa(DB00055)|Simvastatin(DB00641)|Tenecteplase(DB00031)|Troglitazone(DB00197)|Urokinase(DB00013) TCCACGTCGCGCAGGCGCTGC 0.587000 33 95 0 0 1 0 0 GPR6 0 broad.mit.edu 37 6 110301179 110301179 + Silent SNP C C T TCGA-HW-8322-01A-11D-2395-08 TCGA-HW-8322-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbb7361c-879c-4964-b6c8-07b5d8d4da46 088c5f2e-ee43-4263-9962-ef89954380a7 g.chr6:110301179C>T ENST00000414000.2 + 3 1148 c.909C>T c.(907-909)ttC>ttT p.F303F GPR6_ENST00000275169.3_Silent_p.F288F P46095 GPR6_HUMAN G protein-coupled receptor 6 288 integral to plasma membrane breast(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1) 18 all_cancers(87;1.64e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;2.83e-05)|all_lung(197;0.00016)|Lung NSC(302;0.000318)|Colorectal(196;0.0488) BRCA - Breast invasive adenocarcinoma(108;8.01e-05)|Epithelial(106;8.76e-05)|all cancers(137;0.000197)|OV - Ovarian serous cystadenocarcinoma(136;0.0307) TGGGCACTTTCGGCGCCAGCT 0.657000 4 77 0 0 1 0 0 ARL6 84100 broad.mit.edu 37 3 97487028 97487028 + Missense_Mutation SNP A A G TCGA-HW-8322-01A-11D-2395-08 TCGA-HW-8322-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbb7361c-879c-4964-b6c8-07b5d8d4da46 088c5f2e-ee43-4263-9962-ef89954380a7 g.chr3:97487028A>G ENST00000463745.1 + 2 554 c.77A>G c.(76-78)gAt>gGt p.D26G ARL6_ENST00000496713.1_3'UTR|ARL6_ENST00000335979.2_Missense_Mutation_p.D26G|ARL6_ENST00000394206.1_Missense_Mutation_p.D26G NM_001278293.1 NP_001265222.1 Q9H0F7 ARL6_HUMAN ADP-ribosylation factor-like 6 26 cilium assembly|determination of left/right symmetry|melanosome transport|protein polymerization|protein targeting to membrane|small GTPase mediated signal transduction|visual perception|Wnt receptor signaling pathway axonemal microtubule|cilium axoneme|cilium membrane|membrane coat|microtubule basal body GTP binding|metal ion binding|phospholipid binding|protein binding large_intestine(1)|lung(4) 5 Lung NSC(201;0.0193)|Prostate(884;0.174) LUSC - Lung squamous cell carcinoma(29;0.0118)|Lung(72;0.0189) CTTGGGCTAGATAATAGTGGC 0.338000 9 47 0 0 1 0 0 MIA3 375056 broad.mit.edu 37 1 222805521 222805521 + Missense_Mutation SNP C C T TCGA-HW-8322-01A-11D-2395-08 TCGA-HW-8322-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbb7361c-879c-4964-b6c8-07b5d8d4da46 088c5f2e-ee43-4263-9962-ef89954380a7 g.chr1:222805521C>T ENST00000344922.5 + 5 3209 c.3184C>T c.(3184-3186)Cat>Tat p.H1062Y MIA3_ENST00000344441.6_Missense_Mutation_p.H1062Y|MIA3_ENST00000470521.1_3'UTR|MIA3_ENST00000344507.1_Intron NM_198551.2 NP_940953.2 Q5JRA6 MIA3_HUMAN melanoma inhibitory activity family, member 3 1062 exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing endoplasmic reticulum membrane|integral to membrane protein binding breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1) 80 GBM - Glioblastoma multiforme(131;0.0199) GCAACCACTGCATGAAGATAA 0.498000 16 99 0 0 1 0 0 KCNT2 343450 broad.mit.edu 37 1 196250118 196250118 + Splice_Site SNP T T C TCGA-HW-8322-01A-11D-2395-08 TCGA-HW-8322-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbb7361c-879c-4964-b6c8-07b5d8d4da46 088c5f2e-ee43-4263-9962-ef89954380a7 g.chr1:196250118T>C ENST00000367433.5 - 24 2811 c.2709_splice c.e24-1 p.M904_splice KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000367431.4_Splice_Site_p.M854_splice|KCNT2_ENST00000451324.2_3'UTR|KCNT2_ENST00000294725.8_Splice_Site_p.M928_splice Q6UVM3 KCNT2_HUMAN potassium channel, subfamily T, member 2 928 voltage-gated potassium channel complex ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1) 97 GTGATTTTCATCTATAACACA 0.348000 9 16 0 0 1 0 0 IPO13 9670 broad.mit.edu 37 1 44423086 44423086 + Missense_Mutation SNP C C A TCGA-HW-8322-01A-11D-2395-08 TCGA-HW-8322-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbb7361c-879c-4964-b6c8-07b5d8d4da46 088c5f2e-ee43-4263-9962-ef89954380a7 g.chr1:44423086C>A ENST00000372343.3 + 7 2067 c.1405C>A c.(1405-1407)Ctc>Atc p.L469I IPO13_ENST00000492152.1_3'UTR NM_014652.3 NP_055467.3 O94829 IPO13_HUMAN importin 13 469 protein import into nucleus cytoplasm|nucleus protein binding|protein transporter activity NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 40 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0821) CACAGAGGCCCTCCTCTACGG 0.572000 4 84 0.150653 0.150653 1 1 0 NOTCH1 4851 broad.mit.edu 37 9 139395301 139395301 + Splice_Site SNP T T G TCGA-HW-8322-01A-11D-2395-08 TCGA-HW-8322-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbb7361c-879c-4964-b6c8-07b5d8d4da46 088c5f2e-ee43-4263-9962-ef89954380a7 g.chr9:139395301T>G ENST00000277541.6 - 31 5714 c.e31-2 NM_017617.3 NP_060087.3 P46531 NOTC1_HUMAN notch 1 aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3) 1359 all_cancers(76;0.223) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06) TGAAGCCATCTGCAGAGGCAG 0.701000 """T, Mis, O""" TRB@ T-ALL HNSCC(8;0.001) 3 30 0 0 1 0 0 MYH3 4621 broad.mit.edu 37 17 10536939 10536939 + Missense_Mutation SNP G G C TCGA-HW-8322-01A-11D-2395-08 TCGA-HW-8322-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbb7361c-879c-4964-b6c8-07b5d8d4da46 088c5f2e-ee43-4263-9962-ef89954380a7 g.chr17:10536939G>C ENST00000583535.1 - 33 4703 c.4616C>G c.(4615-4617)gCt>gGt p.A1539G MYH3_ENST00000226209.7_Missense_Mutation_p.A1539G NM_002470.3 NP_002461.2 P11055 MYH3_HUMAN myosin, heavy chain 3, skeletal muscle, embryonic 1539 muscle filament sliding|muscle organ development cytosol|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 83 CTGGATATCAGCCTTTTCCAG 0.527000 5 94 0 0 1 0 0 TFPT 29844 broad.mit.edu 37 19 54611508 54611508 + Missense_Mutation SNP G G A TCGA-HW-8322-01A-11D-2395-08 TCGA-HW-8322-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbb7361c-879c-4964-b6c8-07b5d8d4da46 088c5f2e-ee43-4263-9962-ef89954380a7 g.chr19:54611508G>A ENST00000391759.1 - 5 872 c.467C>T c.(466-468)gCg>gTg p.A156V TFPT_ENST00000391758.1_Missense_Mutation_p.A147V|NDUFA3_ENST00000391764.3_Intron|TFPT_ENST00000391757.1_Missense_Mutation_p.R144W NM_013342.3 NP_037474.1 P0C1Z6 TFPT_HUMAN TCF3 (E2A) fusion partner (in childhood Leukemia) 156 apoptosis|DNA recombination|DNA repair|induction of apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|Ino80 complex DNA binding|protein binding large_intestine(2)|lung(2) 4 all_cancers(19;0.004)|all_epithelial(19;0.00195)|all_lung(19;0.0193)|Lung NSC(19;0.0358)|Breast(117;0.137)|Ovarian(34;0.19) CTCATTCTCCGCATTGCCTGG 0.677000 T TCF3 pre-B ALL 10 9 0 0 1 0 0 TAS1R3 83756 broad.mit.edu 37 1 1267913 1267913 + Frame_Shift_Del DEL C C - TCGA-HW-8322-01A-11D-2395-08 TCGA-HW-8322-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbb7361c-879c-4964-b6c8-07b5d8d4da46 088c5f2e-ee43-4263-9962-ef89954380a7 g.chr1:1267913delC ENST00000339381.5 + 3 1034 c.1002delC c.(1000-1002)ttfs p.F334fs NM_152228.1 NP_689414.1 Q7RTX0 TS1R3_HUMAN taste receptor, type 1, member 3 334 detection of chemical stimulus involved in sensory perception of sweet taste|sensory perception of umami taste plasma membrane protein heterodimerization activity|taste receptor activity kidney(2)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1) 12 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217) Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.88e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.146) Aspartame(DB00168) TGCACGAGTTCCCCCAGTACG 0.692 15 29 --- --- --- --- SPR 6697 broad.mit.edu 37 2 73114723 73114723 + Frame_Shift_Del DEL G G - TCGA-HW-8322-01A-11D-2395-08 TCGA-HW-8322-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbb7361c-879c-4964-b6c8-07b5d8d4da46 088c5f2e-ee43-4263-9962-ef89954380a7 g.chr2:73114723delG ENST00000234454.5 + 1 235 c.162delG c.(160-162)ctfs p.L54fs SPR_ENST00000498749.1_3'UTR NM_003124.4 NP_003115.1 P35270 SPRE_HUMAN sepiapterin reductase (7,8-dihydrobiopterin:NADP+ oxidoreductase) 54 nitric oxide biosynthetic process|tetrahydrobiopterin biosynthetic process cytoplasm aldo-keto reductase (NADP) activity|NADP binding|sepiapterin reductase activity lung(4)|ovary(2) 6 AGGCCGAGCTGGGCGCCGAGC 0.771 2 4 --- --- --- --- NEU2 4759 broad.mit.edu 37 2 233898908 233898909 + Frame_Shift_Ins INS - - G TCGA-HW-8322-01A-11D-2395-08 TCGA-HW-8322-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbb7361c-879c-4964-b6c8-07b5d8d4da46 088c5f2e-ee43-4263-9962-ef89954380a7 g.chr2:233898908_233898909insG ENST00000233840.3 + 2 284_285 c.284_285insG c.(283-285)aggfs p.R95fs NM_005383.2 NP_005374.2 Q9Y3R4 NEUR2_HUMAN sialidase 2 (cytosolic sialidase) 95 exo-alpha-sialidase activity endometrium(3)|large_intestine(2)|lung(10)|skin(2)|urinary_tract(1) 18 Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0271)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0839) Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0488) GACGCGCAGACGGGGACCCTCT 0.619 32 157 --- --- --- --- NOTCH1 4851 broad.mit.edu 37 9 139399848 139399848 + Frame_Shift_Del DEL G G - TCGA-HW-8322-01A-11D-2395-08 TCGA-HW-8322-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbb7361c-879c-4964-b6c8-07b5d8d4da46 088c5f2e-ee43-4263-9962-ef89954380a7 g.chr9:139399848delG ENST00000277541.6 - 25 4575 c.4500delC c.(4498-4500)ttfs p.F1500fs NM_017617.3 NP_060087.3 P46531 NOTC1_HUMAN notch 1 1500 aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3) 1359 all_cancers(76;0.223) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06) GGCCGTCACTGAAGTACTTCC 0.617 """T, Mis, O""" TRB@ T-ALL HNSCC(8;0.001) 18 21 --- --- --- --- PIP4K2B 8396 broad.mit.edu 37 17 36936783 36936783 + Frame_Shift_Del DEL G G - TCGA-HW-8322-01A-11D-2395-08 TCGA-HW-8322-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbb7361c-879c-4964-b6c8-07b5d8d4da46 088c5f2e-ee43-4263-9962-ef89954380a7 g.chr17:36936783delG ENST00000269554.3 - 4 909 c.429delC c.(427-429)tafs p.Y143fs PIP4K2B_ENST00000311500.6_5'UTR NM_003559.4 NP_003550.1 P78356 PI42B_HUMAN phosphatidylinositol-5-phosphate 4-kinase, type II, beta 143 PIPK. cell surface receptor linked signaling pathway endoplasmic reticulum membrane|plasma membrane 1-phosphatidylinositol-4-phosphate 5-kinase activity|1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding|receptor signaling protein activity endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1) 19 AGCGCCGGTCGTAGGTGGTGA 0.552 10 166 --- --- --- --- BAGE2 85319 broad.mit.edu 37 21 11085863 11085864 + RNA INS - - C TCGA-HW-8322-01A-11D-2395-08 TCGA-HW-8322-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbb7361c-879c-4964-b6c8-07b5d8d4da46 088c5f2e-ee43-4263-9962-ef89954380a7 g.chr21:11085863_11085864insC ENST00000470054.1 - 0 324 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) catcaccaccaccaccatcacc 0.579 2 4 --- --- --- --- TTC3 7267 broad.mit.edu 37 21 38568034 38568035 + Frame_Shift_Ins INS - - T TCGA-HW-8322-01A-11D-2395-08 TCGA-HW-8322-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbb7361c-879c-4964-b6c8-07b5d8d4da46 088c5f2e-ee43-4263-9962-ef89954380a7 g.chr21:38568034_38568035insT ENST00000399017.2 + 42 8023_8024 c.5276_5277insT c.(5275-5277)tgcfs p.C1759fs TTC3_ENST00000479930.1_3'UTR|TTC3_ENST00000355666.1_Frame_Shift_Ins_p.C1759fs|TTC3_ENST00000354749.2_Frame_Shift_Ins_p.C1759fs NM_003316.3 NP_003307.3 P53804 TTC3_HUMAN tetratricopeptide repeat domain 3 1759 protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process nucleus protein binding|ubiquitin-protein ligase activity|zinc ion binding breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5) 75 Myeloproliferative disorder(46;0.0412) CTTGTGACTTCTGCAAGCGACG 0.569 7 344 --- --- --- --- NUDT11 0 broad.mit.edu 37 X 51239296 51239309 + Translation_Start_Site DEL TCCTCGAGGCAGCC TCCTCGAGGCAGCC - rs78182391 TCGA-HW-8322-01A-11D-2395-08 TCGA-HW-8322-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbb7361c-879c-4964-b6c8-07b5d8d4da46 088c5f2e-ee43-4263-9962-ef89954380a7 g.chrX:51239296_51239309delTCCTCGAGGCAGCC ENST00000375992.3 - 0 139_152 NM_018159.3 NP_060629.2 Q96G61 NUD11_HUMAN nudix (nucleoside diphosphate linked moiety X)-type motif 11 cytoplasm diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding p.?(5) breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2) 9 Ovarian(276;0.236) TTGCACTTCATCCTCGAGGCAGCCTCCTCGAGGC 0.692 HNSCC(48;0.14) 3 5 --- --- --- ---