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 DNAH11 8701 broad.mit.edu 37 7 21824082 21824082 + Missense_Mutation SNP G G C TCGA-DH-A66B-01A-11D-A29Q-08 TCGA-DH-A66B-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx d02d1ca6-f972-4084-be98-3b722f923bc3 622c34d2-eb7d-4cf0-b262-4ce463976d18 g.chr7:21824082G>C ENST00000328843.6 + 59 9573 c.9542G>C c.(9541-9543)aGa>aCa p.R3181T DNAH11_ENST00000409508.3_Missense_Mutation_p.R3174T Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 3181 Stalk (By similarity). microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 230 CAGAAACAGAGAGAATGTGAA 0.413000 Kartagener syndrome 3 28 0 0 1 0 0 CHAF1B 8208 broad.mit.edu 37 21 37775114 37775114 + Missense_Mutation SNP G G C TCGA-DH-A66B-01A-11D-A29Q-08 TCGA-DH-A66B-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx d02d1ca6-f972-4084-be98-3b722f923bc3 622c34d2-eb7d-4cf0-b262-4ce463976d18 g.chr21:37775114G>C ENST00000314103.4 + 8 873 c.722G>C c.(721-723)aGt>aCt p.S241T NM_005441.2 NP_005432.1 Q13112 CAF1B_HUMAN chromatin assembly factor 1, subunit B (p60) 241 cell cycle|DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent CAF-1 complex|cytoplasm chromatin binding|histone binding|unfolded protein binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(2) 20 CGTAGACTGAGTTTCACTCCC 0.443000 46 227 0 0 1 0 0 SPRY2 10253 broad.mit.edu 37 13 80911693 80911693 + Nonsense_Mutation SNP G G A TCGA-DH-A66B-01A-11D-A29Q-08 TCGA-DH-A66B-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx d02d1ca6-f972-4084-be98-3b722f923bc3 622c34d2-eb7d-4cf0-b262-4ce463976d18 g.chr13:80911693G>A ENST00000377102.1 - 2 1125 c.148C>T c.(148-150)Cga>Tga p.R50* SPRY2_ENST00000540649.1_Nonsense_Mutation_p.R50*|SPRY2_ENST00000377104.3_Nonsense_Mutation_p.R50* O43597 SPY2_HUMAN sprouty homolog 2 (Drosophila) 50 epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of ERK1 and ERK2 cascade|positive regulation of gene expression|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein kinase B signaling cascade cytosol|microtubule|ruffle membrane protein serine/threonine kinase activator activity central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1) 12 Medulloblastoma(90;0.18) Acute lymphoblastic leukemia(28;0.218)|Breast(118;0.244) GBM - Glioblastoma multiforme(99;0.0318) TTGGTGTTTCGGATGGCTCTG 0.612000 4 145 0 0 1 0 0 RHOT1 55288 broad.mit.edu 37 17 30520157 30520157 + Missense_Mutation SNP G G T TCGA-DH-A66B-01A-11D-A29Q-08 TCGA-DH-A66B-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx d02d1ca6-f972-4084-be98-3b722f923bc3 622c34d2-eb7d-4cf0-b262-4ce463976d18 g.chr17:30520157G>T ENST00000358365.3 + 10 869 c.642G>T c.(640-642)agG>agT p.R214S RHOT1_ENST00000581094.1_Missense_Mutation_p.R214S|RHOT1_ENST00000545287.2_Missense_Mutation_p.R214S|RHOT1_ENST00000580976.1_3'UTR|RHOT1_ENST00000394692.2_Missense_Mutation_p.R214S|RHOT1_ENST00000354266.3_Missense_Mutation_p.R193S|RHOT1_ENST00000333942.6_Missense_Mutation_p.R214S|RHOT1_ENST00000583994.1_Missense_Mutation_p.R87S NM_001033568.1 NP_001028740.1 Q8IXI2 MIRO1_HUMAN ras homolog family member T1 214 EF-hand 1. apoptosis|cellular homeostasis|mitochondrion transport along microtubule|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|integral to mitochondrial outer membrane|plasma membrane calcium ion binding|GTP binding|GTPase activity|protein binding NS(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 28 Myeloproliferative disorder(56;0.0255)|Breast(31;0.116)|Ovarian(249;0.182) TTTGCTAGAGGATTTGTTTCA 0.333000 11 47 1.58986e-06 1.63955e-06 1 1 0 IFIH1 64135 broad.mit.edu 37 2 163133214 163133214 + Missense_Mutation SNP A A C TCGA-DH-A66B-01A-11D-A29Q-08 TCGA-DH-A66B-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx d02d1ca6-f972-4084-be98-3b722f923bc3 622c34d2-eb7d-4cf0-b262-4ce463976d18 g.chr2:163133214A>C ENST00000263642.2 - 11 2682 c.2287T>G c.(2287-2289)Ttc>Gtc p.F763V NM_022168.3 NP_071451.2 Q9BYX4 IFIH1_HUMAN interferon induced with helicase C domain 1 763 Helicase C-terminal. detection of virus|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|regulation of apoptosis cytosol|nucleus ATP binding|DNA binding|double-stranded RNA binding|helicase activity|protein binding|ribonucleoprotein binding|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1) 39 ATGGGTTTGAACTCACTGCTG 0.398000 12 62 0 0 1 0 0 INSRR 3645 broad.mit.edu 37 1 156815851 156815851 + Missense_Mutation SNP C C T TCGA-DH-A66B-01A-11D-A29Q-08 TCGA-DH-A66B-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx d02d1ca6-f972-4084-be98-3b722f923bc3 622c34d2-eb7d-4cf0-b262-4ce463976d18 g.chr1:156815851C>T ENST00000368195.3 - 9 2267 c.1871G>A c.(1870-1872)cGc>cAc p.R624H NTRK1_ENST00000392302.2_Intron NM_014215.2 NP_055030.1 P14616 INSRR_HUMAN insulin receptor-related receptor 624 Fibronectin type-III 2. protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2) 42 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) TGGCTTCCAGCGCACCAGGAG 0.622000 16 69 0 0 1 0 0 SLC26A9 115019 broad.mit.edu 37 1 205896383 205896383 + Missense_Mutation SNP T T G TCGA-DH-A66B-01A-11D-A29Q-08 TCGA-DH-A66B-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx d02d1ca6-f972-4084-be98-3b722f923bc3 622c34d2-eb7d-4cf0-b262-4ce463976d18 g.chr1:205896383T>G ENST00000367135.3 - 11 1362 c.1249A>C c.(1249-1251)Atc>Ctc p.I417L SLC26A9_ENST00000367134.2_Missense_Mutation_p.I417L|SLC26A9_ENST00000340781.4_Missense_Mutation_p.I417L NM_052934.3 NP_443166.1 Q7LBE3 S26A9_HUMAN solute carrier family 26 (anion exchanger), member 9 417 integral to membrane chloride channel activity|secondary active sulfate transmembrane transporter activity NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5) 52 Breast(84;0.201) BRCA - Breast invasive adenocarcinoma(75;0.0458) AGCATGGTGATCATCACCACC 0.483000 5 139 0 0 1 0 0 WDR24 84219 broad.mit.edu 37 16 739166 739166 + Missense_Mutation SNP A A T TCGA-DH-A66B-01A-11D-A29Q-08 TCGA-DH-A66B-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx d02d1ca6-f972-4084-be98-3b722f923bc3 622c34d2-eb7d-4cf0-b262-4ce463976d18 g.chr16:739166A>T ENST00000293883.4 - 1 1234 c.475T>A c.(475-477)Ttc>Atc p.F159I WDR24_ENST00000248142.6_Missense_Mutation_p.F221I NM_032259.2 NP_115635.1 Q96S15 WDR24_HUMAN WD repeat domain 24 221 breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(3) 19 Hepatocellular(780;0.0218) TCACCCGAGAAGGTGCTGACA 0.632000 40 84 0 0 1 0 0 MUC4 4585 broad.mit.edu 37 3 195511870 195511870 + Missense_Mutation SNP G G A TCGA-DH-A66B-01A-11D-A29Q-08 TCGA-DH-A66B-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx d02d1ca6-f972-4084-be98-3b722f923bc3 622c34d2-eb7d-4cf0-b262-4ce463976d18 g.chr3:195511870G>A ENST00000463781.3 - 2 7040 c.6581C>T c.(6580-6582)cCt>cTt p.P2194L MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.P2194L|MUC4_ENST00000349607.4_Intron NM_018406.6 NP_060876.5 Q99102 MUC4_HUMAN mucin 4, cell surface associated 983 cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) GTCGGTGACAGGAAGAGGGGT 0.592000 4 13 0 0 1 0 0 CYP4F12 66002 broad.mit.edu 37 19 15807863 15807863 + Missense_Mutation SNP C C T TCGA-DH-A66B-01A-11D-A29Q-08 TCGA-DH-A66B-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx d02d1ca6-f972-4084-be98-3b722f923bc3 622c34d2-eb7d-4cf0-b262-4ce463976d18 g.chr19:15807863C>T ENST00000550308.1 + 13 1923 c.1543C>T c.(1543-1545)Cgg>Tgg p.R515W CYP4F12_ENST00000324632.9_Missense_Mutation_p.R515W NM_023944.3 NP_076433.3 cytochrome P450, family 4, subfamily F, polypeptide 12 NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 41 Acute lymphoblastic leukemia(2;0.0367) GCTTTGGCTGCGGGTGGAGCC 0.567000 24 101 0 0 1 0 0 TNS3 64759 broad.mit.edu 37 7 47407972 47407972 + Silent SNP G G A TCGA-DH-A66B-01A-11D-A29Q-08 TCGA-DH-A66B-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx d02d1ca6-f972-4084-be98-3b722f923bc3 622c34d2-eb7d-4cf0-b262-4ce463976d18 g.chr7:47407972G>A ENST00000398879.1 - 17 2637 c.2271C>T c.(2269-2271)acC>acT p.T757T TNS3_ENST00000311160.9_Silent_p.T757T|TNS3_ENST00000355730.3_Silent_p.T517T Q68CZ2 TENS3_HUMAN tensin 3 757 focal adhesion protein binding NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 64 CTTGCCGCCCGGTGGCCCTGC 0.632000 61 219 0 0 1 0 0 ITPR3 3710 broad.mit.edu 37 6 33632727 33632727 + Missense_Mutation SNP A A G TCGA-DH-A66B-01A-11D-A29Q-08 TCGA-DH-A66B-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx d02d1ca6-f972-4084-be98-3b722f923bc3 622c34d2-eb7d-4cf0-b262-4ce463976d18 g.chr6:33632727A>G ENST00000374316.5 + 13 2289 c.1229A>G c.(1228-1230)gAg>gGg p.E410G ITPR3_ENST00000605930.1_Missense_Mutation_p.E410G Q14573 ITPR3_HUMAN inositol 1,4,5-trisphosphate receptor, type 3 410 MIR 5. activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 85 ATCGAGGAGGAGCGGCCCATC 0.667000 25 45 0 0 1 0 0 ABL2 27 broad.mit.edu 37 1 179084144 179084144 + Missense_Mutation SNP T T A TCGA-DH-A66B-01A-11D-A29Q-08 TCGA-DH-A66B-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx d02d1ca6-f972-4084-be98-3b722f923bc3 622c34d2-eb7d-4cf0-b262-4ce463976d18 g.chr1:179084144T>A ENST00000502732.1 - 9 1633 c.1430A>T c.(1429-1431)gAa>gTa p.E477V ABL2_ENST00000367623.4_Missense_Mutation_p.E456V|ABL2_ENST00000344730.3_Missense_Mutation_p.E462V|ABL2_ENST00000512653.1_Missense_Mutation_p.E462V|ABL2_ENST00000392043.3_Missense_Mutation_p.E456V|ABL2_ENST00000511413.1_Missense_Mutation_p.E477V|ABL2_ENST00000507173.1_Missense_Mutation_p.E456V|ABL2_ENST00000408940.3_Missense_Mutation_p.E441V|ABL2_ENST00000504405.1_Missense_Mutation_p.E441V NM_001168236.1|NM_001168237.1|NM_001168238.1|NM_007314.3 NP_001161708.1|NP_001161709.1|NP_001161710.1|NP_009298.1 P42684 ABL2_HUMAN c-abl oncogene 2, non-receptor tyrosine kinase 477 Protein kinase. axon guidance|cell adhesion|peptidyl-tyrosine phosphorylation|positive regulation of oxidoreductase activity|signal transduction cytoskeleton|cytosol ATP binding|magnesium ion binding|manganese ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 65 Adenosine triphosphate(DB00171)|Dasatinib(DB01254) GGTAGCAATTTCCCACAACAA 0.378000 T ETV6 AML 18 96 0 0 1 0 0 KIF2B 84643 broad.mit.edu 37 17 51902246 51902246 + Missense_Mutation SNP C C A TCGA-DH-A66B-01A-11D-A29Q-08 TCGA-DH-A66B-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx d02d1ca6-f972-4084-be98-3b722f923bc3 622c34d2-eb7d-4cf0-b262-4ce463976d18 g.chr17:51902246C>A ENST00000268919.4 + 1 2008 c.1852C>A c.(1852-1854)Caa>Aaa p.Q618K NM_032559.4 NP_115948.4 Q8N4N8 KIF2B_HUMAN kinesin family member 2B 618 blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle ATP binding|microtubule motor activity NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 104 GGGATCTAGCCAATGGCTGGA 0.443000 22 105 3.7963e-18 4.24671e-18 1 1 0 MORC2 22880 broad.mit.edu 37 22 31330834 31330834 + Silent SNP A A C TCGA-DH-A66B-01A-11D-A29Q-08 TCGA-DH-A66B-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx d02d1ca6-f972-4084-be98-3b722f923bc3 622c34d2-eb7d-4cf0-b262-4ce463976d18 g.chr22:31330834A>C ENST00000215862.4 - 20 3304 c.1941T>G c.(1939-1941)gtT>gtG p.V647V MORC2_ENST00000397641.2_Silent_p.V709V NM_014941.1 NP_055756.1 Q9Y6X9 MORC2_HUMAN MORC family CW-type zinc finger 2 709 ATP binding|zinc ion binding breast(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1) 21 TGGGAGAAGGAACCTCCCGAG 0.552000 69 214 0 0 1 0 0 MAP2K5 5607 broad.mit.edu 37 15 67878228 67878228 + Splice_Site SNP C C T TCGA-DH-A66B-01A-11D-A29Q-08 TCGA-DH-A66B-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx d02d1ca6-f972-4084-be98-3b722f923bc3 622c34d2-eb7d-4cf0-b262-4ce463976d18 g.chr15:67878228C>T ENST00000178640.5 + 5 950 c.322_splice c.e5-1 p.A108_splice MAP2K5_ENST00000395476.2_Splice_Site_p.A108_splice|MAP2K5_ENST00000560591.1_3'UTR|MAP2K5_ENST00000354498.5_Splice_Site_p.A72_splice NM_145160.2 NP_660143.1 Q13163 MP2K5_HUMAN mitogen-activated protein kinase kinase 5 108 nerve growth factor receptor signaling pathway ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|skin(1) 16 ACTGTTTCAGCCTGCAAGCCT 0.373000 8 71 0 0 1 0 0 PTPRZ1 5803 broad.mit.edu 37 7 121693973 121693973 + Nonsense_Mutation SNP C C T TCGA-DH-A66B-01A-11D-A29Q-08 TCGA-DH-A66B-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx d02d1ca6-f972-4084-be98-3b722f923bc3 622c34d2-eb7d-4cf0-b262-4ce463976d18 g.chr7:121693973C>T ENST00000393386.2 + 26 6673 c.6262C>T c.(6262-6264)Cag>Tag p.Q2088* PTPRZ1_ENST00000449182.1_Nonsense_Mutation_p.Q1221* NM_001206838.1|NM_002851.2 NP_001193767.1|NP_002842.2 P23471 PTPRZ_HUMAN protein tyrosine phosphatase, receptor-type, Z polypeptide 1 2088 Tyrosine-protein phosphatase 2. central nervous system development integral to plasma membrane protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2) 106 GGGCTATTACCAGAGCAATGA 0.403000 47 71 0 0 1 0 0 APIP 51074 broad.mit.edu 37 11 34909891 34909891 + Missense_Mutation SNP T T C TCGA-DH-A66B-01A-11D-A29Q-08 TCGA-DH-A66B-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx d02d1ca6-f972-4084-be98-3b722f923bc3 622c34d2-eb7d-4cf0-b262-4ce463976d18 g.chr11:34909891T>C ENST00000395787.3 - 5 624 c.410A>G c.(409-411)cAt>cGt p.H137R APIP_ENST00000527830.1_5'UTR|APIP_ENST00000278359.5_Missense_Mutation_p.H154R NM_015957.2 NP_057041.2 Q96GX9 MTNB_HUMAN APAF1 interacting protein 137 apoptosis|L-methionine salvage cytoplasm identical protein binding|metal ion binding|methylthioribulose 1-phosphate dehydratase activity kidney(2)|lung(1)|skin(1) 4 all_epithelial(35;0.161) all_hematologic(20;0.107) STAD - Stomach adenocarcinoma(6;0.000425) CATCTCTTGATGTGTAATTTT 0.373000 22 73 0 0 1 0 0 CRISPLD1 83690 broad.mit.edu 37 8 75932115 75932115 + Missense_Mutation SNP T T C TCGA-DH-A66B-01A-11D-A29Q-08 TCGA-DH-A66B-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx d02d1ca6-f972-4084-be98-3b722f923bc3 622c34d2-eb7d-4cf0-b262-4ce463976d18 g.chr8:75932115T>C ENST00000262207.4 + 11 1606 c.1138T>C c.(1138-1140)Tct>Cct p.S380P CRISPLD1_ENST00000523524.1_Missense_Mutation_p.S192P|CRISPLD1_ENST00000517786.1_Missense_Mutation_p.S194P NM_031461.5 NP_113649.1 Q9H336 CRLD1_HUMAN cysteine-rich secretory protein LCCL domain containing 1 380 LCCL 1. extracellular region biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(7)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 Breast(64;0.0799) Epithelial(68;0.155)|BRCA - Breast invasive adenocarcinoma(89;0.161) CAAATATCAGTCTGCTAATTC 0.333000 22 22 0 0 1 0 0 TRAIP 10293 broad.mit.edu 37 3 49867117 49867117 + Missense_Mutation SNP C C T TCGA-DH-A66B-01A-11D-A29Q-08 TCGA-DH-A66B-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx d02d1ca6-f972-4084-be98-3b722f923bc3 622c34d2-eb7d-4cf0-b262-4ce463976d18 g.chr3:49867117C>T ENST00000331456.2 - 13 1282 c.1169G>A c.(1168-1170)cGg>cAg p.R390Q TRAIP_ENST00000469027.1_Missense_Mutation_p.R235Q NM_005879.2 NP_005870.2 Q9BWF2 TRAIP_HUMAN TRAF interacting protein 390 Interaction with CYLD. cell proliferation|induction of apoptosis perinuclear region of cytoplasm protein binding|zinc ion binding breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 24 BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) GATGGCATTCCGGACAAAAAT 0.587000 27 49 0 0 1 0 0 SUZ12P 0 broad.mit.edu 37 17 29061941 29061941 + RNA SNP T T C rs112064181 by1000genomes TCGA-DH-A66B-01A-11D-A29Q-08 TCGA-DH-A66B-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx d02d1ca6-f972-4084-be98-3b722f923bc3 622c34d2-eb7d-4cf0-b262-4ce463976d18 g.chr17:29061941T>C ENST00000582557.1 + 0 861 TAGATTTCTTTGAACTCGGAA 0.303000 4 37 0 0 1 0 0 RP11-844P9.2 0 broad.mit.edu 37 5 175574052 175574052 + RNA SNP G G A rs73332206 by1000genomes TCGA-DH-A66B-01A-11D-A29Q-08 TCGA-DH-A66B-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx d02d1ca6-f972-4084-be98-3b722f923bc3 622c34d2-eb7d-4cf0-b262-4ce463976d18 g.chr5:175574052G>A ENST00000515403.1 - 0 2716 RP11-826N14.4_ENST00000510029.1_lincRNA NR_036494.1 GTGGGGTTTGGGCTGTCAACT 0.463000 4 16 0 0 1 0 0 IDH1 3417 broad.mit.edu 37 2 209113112 209113112 + Missense_Mutation SNP C C T rs121913500 TCGA-DH-A66B-01A-11D-A29Q-08 TCGA-DH-A66B-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx d02d1ca6-f972-4084-be98-3b722f923bc3 622c34d2-eb7d-4cf0-b262-4ce463976d18 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 22 22 0 0 1 0 0 RGS3 5998 broad.mit.edu 37 9 116224037 116224037 + Missense_Mutation SNP G G A TCGA-DH-A66B-01A-11D-A29Q-08 TCGA-DH-A66B-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx d02d1ca6-f972-4084-be98-3b722f923bc3 622c34d2-eb7d-4cf0-b262-4ce463976d18 g.chr9:116224037G>A ENST00000374140.2 + 3 340 c.131G>A c.(130-132)cGt>cAt p.R44H RGS3_ENST00000350696.5_Missense_Mutation_p.R44H NM_144488.4 NP_652759.3 P49796 RGS3_HUMAN regulator of G-protein signaling 3 44 inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway cytosol|nucleus|plasma membrane GTPase activator activity|signal transducer activity cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 48 GGATCTCACCGTCCTGAGTGT 0.537000 24 112 0 0 1 0 0 MYH11 4629 broad.mit.edu 37 16 15835445 15835445 + Missense_Mutation SNP G G A TCGA-DH-A66B-01A-11D-A29Q-08 TCGA-DH-A66B-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx d02d1ca6-f972-4084-be98-3b722f923bc3 622c34d2-eb7d-4cf0-b262-4ce463976d18 g.chr16:15835445G>A ENST00000338282.6 - 22 2840 c.2734C>T c.(2734-2736)Cgg>Tgg p.R912W MYH11_ENST00000396324.3_Missense_Mutation_p.R919W|MYH11_ENST00000300036.5_Missense_Mutation_p.R912W|AF001548.6_ENST00000577048.1_RNA|MYH11_ENST00000576790.1_Missense_Mutation_p.R912W|MYH11_ENST00000452625.2_Missense_Mutation_p.R919W NM_022844.2 NP_074035.1 P35749 MYH11_HUMAN myosin, heavy chain 11, smooth muscle 912 axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction cytosol|melanosome|muscle myosin complex|myosin filament actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1) 123 GCCGCCAGCCGCACCCGCATC 0.622000 T CBFB AML 5 254 0 0 1 0 0 PCDHB4 0 broad.mit.edu 37 5 140502918 140502918 + Silent SNP C C T TCGA-DH-A66B-01A-11D-A29Q-08 TCGA-DH-A66B-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx d02d1ca6-f972-4084-be98-3b722f923bc3 622c34d2-eb7d-4cf0-b262-4ce463976d18 g.chr5:140502918C>T ENST00000194152.1 + 1 1338 c.1338C>T c.(1336-1338)aaC>aaT p.N446N NM_018938.2 NP_061761.1 Q9Y5E5 PCDB4_HUMAN 446 Cadherin 4. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton calcium ion binding autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 67 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TCAATGACAACGCCCCCGCCT 0.602000 111 112 0 0 1 0 0 WDR17 116966 broad.mit.edu 37 4 177032847 177032847 + Missense_Mutation SNP T T C TCGA-DH-A66B-01A-11D-A29Q-08 TCGA-DH-A66B-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx d02d1ca6-f972-4084-be98-3b722f923bc3 622c34d2-eb7d-4cf0-b262-4ce463976d18 g.chr4:177032847T>C ENST00000393643.2 + 2 368 c.116T>C c.(115-117)aTt>aCt p.I39T WDR17_ENST00000508596.1_Missense_Mutation_p.I39T|WDR17_ENST00000280190.4_Missense_Mutation_p.I63T|WDR17_ENST00000507824.2_Missense_Mutation_p.I63T NM_170710.4 NP_733828.2 Q8IZU2 WDR17_HUMAN WD repeat domain 17 63 breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 92 Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232) GCTATCTATATTTATCAGGTA 0.343000 15 37 0 0 1 0 0 CHRM3 1131 broad.mit.edu 37 1 240071128 240071128 + Missense_Mutation SNP C C T TCGA-DH-A66B-01A-11D-A29Q-08 TCGA-DH-A66B-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx d02d1ca6-f972-4084-be98-3b722f923bc3 622c34d2-eb7d-4cf0-b262-4ce463976d18 g.chr1:240071128C>T ENST00000255380.4 + 5 1156 c.377C>T c.(376-378)aCg>aTg p.T126M NM_000740.2 NP_000731.1 P20309 ACM3_HUMAN cholinergic receptor, muscarinic 3 126 cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity p.T126M(1) breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1) 51 Ovarian(103;0.127) all_cancers(173;0.00567)|all_neural(198;0.203) OV - Ovarian serous cystadenocarcinoma(106;0.00989) Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505) AATCTGTTTACGACCTACATC 0.468000 20 37 0 0 1 0 0 COBL 23242 broad.mit.edu 37 7 51093066 51093066 + Missense_Mutation SNP C C T TCGA-DH-A66B-01A-11D-A29Q-08 TCGA-DH-A66B-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx d02d1ca6-f972-4084-be98-3b722f923bc3 622c34d2-eb7d-4cf0-b262-4ce463976d18 g.chr7:51093066C>T ENST00000395542.2 - 14 3938 c.3754G>A c.(3754-3756)Gca>Aca p.A1252T COBL_ENST00000265136.7_Missense_Mutation_p.A1170T O75128 COBL_HUMAN cordon-bleu WH2 repeat protein 1170 WH2 3. NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 65 Glioma(55;0.08) GCAGAGGATGCCACCTGGCAA 0.517000 13 60 0 0 1 0 0 AC024560.3 0 broad.mit.edu 37 3 197348674 197348674 + RNA SNP A A G rs144273946 by1000genomes TCGA-DH-A66B-01A-11D-A29Q-08 TCGA-DH-A66B-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx d02d1ca6-f972-4084-be98-3b722f923bc3 622c34d2-eb7d-4cf0-b262-4ce463976d18 g.chr3:197348674A>G ENST00000418868.1 - 0 585 NR_003266.2 GGCTCTGTCCACCAAATGCAC 0.478000 4 147 0 0 1 0 0 PKHD1 5314 broad.mit.edu 37 6 51768522 51768522 + Missense_Mutation SNP C C G TCGA-DH-A66B-01A-11D-A29Q-08 TCGA-DH-A66B-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx d02d1ca6-f972-4084-be98-3b722f923bc3 622c34d2-eb7d-4cf0-b262-4ce463976d18 g.chr6:51768522C>G ENST00000371117.3 - 43 7144 c.6869G>C c.(6868-6870)tGg>tCg p.W2290S PKHD1_ENST00000340994.4_Missense_Mutation_p.W2290S NM_138694.3 NP_619639.3 P08F94 PKHD1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive) 2290 cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body protein binding|receptor activity NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5) 304 Lung NSC(77;0.0605) ATGTCCTGACCAGTCTAATGT 0.393000 16 41 0 0 1 0 0 PCDH15 65217 broad.mit.edu 37 10 55581631 55581631 + Missense_Mutation SNP G G C TCGA-DH-A66B-01A-11D-A29Q-08 TCGA-DH-A66B-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx d02d1ca6-f972-4084-be98-3b722f923bc3 622c34d2-eb7d-4cf0-b262-4ce463976d18 g.chr10:55581631G>C ENST00000361849.3 - 34 6255 c.5861C>G c.(5860-5862)tCt>tGt p.S1954C PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000395445.1_Intron|PCDH15_ENST00000437009.1_Missense_Mutation_p.S1883C|PCDH15_ENST00000395438.1_Intron|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395432.2_Missense_Mutation_p.S1912C|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395430.1_Missense_Mutation_p.S1949C|PCDH15_ENST00000373957.3_Missense_Mutation_p.S806C|PCDH15_ENST00000320301.6_Missense_Mutation_p.S1952C|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000395433.1_Missense_Mutation_p.S1929C|PCDH15_ENST00000463095.1_5'UTR NM_001142763.1|NM_001142764.1|NM_001142765.1|NM_001142768.1 NP_001136235.1|NP_001136236.1|NP_001136237.1|NP_001136240.1 Q96QU1 PCD15_HUMAN protocadherin-related 15 1952 equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1) 237 Melanoma(3;0.117)|Lung SC(717;0.238) CAGTGAAGTAGATTGACTGTG 0.363000 HNSCC(58;0.16) 21 115 0 0 1 0 0 CCDC13 152206 broad.mit.edu 37 3 42750573 42750573 + Missense_Mutation SNP G G A TCGA-DH-A66B-01A-11D-A29Q-08 TCGA-DH-A66B-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx d02d1ca6-f972-4084-be98-3b722f923bc3 622c34d2-eb7d-4cf0-b262-4ce463976d18 g.chr3:42750573G>A ENST00000310232.6 - 16 2130 c.2047C>T c.(2047-2049)Cgg>Tgg p.R683W NM_144719.3 NP_653320.3 Q8IYE1 CCD13_HUMAN coiled-coil domain containing 13 683 endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1) 25 TCCTTTCCCCGCAGGGCACTG 0.592000 20 76 0 0 1 0 0 PLIN1 5346 broad.mit.edu 37 15 90212791 90212791 + Missense_Mutation SNP C C T TCGA-DH-A66B-01A-11D-A29Q-08 TCGA-DH-A66B-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx d02d1ca6-f972-4084-be98-3b722f923bc3 622c34d2-eb7d-4cf0-b262-4ce463976d18 g.chr15:90212791C>T ENST00000300055.5 - 6 876 c.711G>A c.(709-711)atG>atA p.M237I PLIN1_ENST00000430628.2_Missense_Mutation_p.M237I NM_002666.4 NP_002657.3 O60240 PLIN1_HUMAN perilipin 1 237 triglyceride catabolic process lipid particle lipid binding NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|skin(2) 13 GGGCCCGGGCCATGGTCTGCA 0.642000 23 69 0 0 1 0 0 RD3 343035 broad.mit.edu 37 1 211652456 211652456 + Silent SNP G G A TCGA-DH-A66B-01A-11D-A29Q-08 TCGA-DH-A66B-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx d02d1ca6-f972-4084-be98-3b722f923bc3 622c34d2-eb7d-4cf0-b262-4ce463976d18 g.chr1:211652456G>A ENST00000367002.4 - 3 1673 c.510C>T c.(508-510)tcC>tcT p.S170S RD3_ENST00000484910.1_5'UTR NM_001164688.1|NM_183059.2 NP_001158160.1|NP_898882.1 Q7Z3Z2 RD3_HUMAN retinal degeneration 3 170 response to stimulus|visual perception central_nervous_system(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1) 10 OV - Ovarian serous cystadenocarcinoma(81;0.00284)|all cancers(67;0.0279)|Epithelial(68;0.0689) CCACGTCCTCGGAGATGGTCC 0.716000 6 26 0 0 1 0 0 OR6Q1 219952 broad.mit.edu 37 11 57798711 57798711 + Missense_Mutation SNP T T C TCGA-DH-A66B-01A-11D-A29Q-08 TCGA-DH-A66B-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx d02d1ca6-f972-4084-be98-3b722f923bc3 622c34d2-eb7d-4cf0-b262-4ce463976d18 g.chr11:57798711T>C ENST00000302622.3 + 1 310 c.287T>C c.(286-288)aTc>aCc p.I96T OR9Q1_ENST00000335397.3_Intron NM_001005186.2 NP_001005186.2 Q8NGQ2 OR6Q1_HUMAN olfactory receptor, family 6, subfamily Q, member 1 96 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity biliary_tract(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 Breast(21;0.0707)|all_epithelial(135;0.142) GGCAAGAATATCTCTTATGCT 0.483000 10 139 0 0 1 0 0 ZNF676 163223 broad.mit.edu 37 19 22363763 22363763 + Silent SNP G G A TCGA-DH-A66B-01A-11D-A29Q-08 TCGA-DH-A66B-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx d02d1ca6-f972-4084-be98-3b722f923bc3 622c34d2-eb7d-4cf0-b262-4ce463976d18 g.chr19:22363763G>A ENST00000397121.2 - 3 1073 c.756C>T c.(754-756)ccC>ccT p.P252P NM_001001411.2 NP_001001411.2 Q8N7Q3 ZN676_HUMAN zinc finger protein 676 252 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2) 67 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114) CACATTTGTAGGGTTTCTCTC 0.373000 30 66 0 0 1 0 0 CYP4Z2P 0 broad.mit.edu 37 1 47325287 47325287 + RNA SNP T T C TCGA-DH-A66B-01A-11D-A29Q-08 TCGA-DH-A66B-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx d02d1ca6-f972-4084-be98-3b722f923bc3 622c34d2-eb7d-4cf0-b262-4ce463976d18 g.chr1:47325287T>C ENST00000505841.1 - 0 1204 NR_002788.2 AATCCAAACATAGCTGCATTG 0.388000 4 41 0 0 1 0 0 ZNF644 84146 broad.mit.edu 37 1 91405999 91405999 + Silent SNP G G T rs144274015 byFrequency TCGA-DH-A66B-01A-11D-A29Q-08 TCGA-DH-A66B-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx d02d1ca6-f972-4084-be98-3b722f923bc3 622c34d2-eb7d-4cf0-b262-4ce463976d18 g.chr1:91405999G>T ENST00000370440.1 - 3 1129 c.912C>A c.(910-912)acC>acA p.T304T ZNF644_ENST00000467231.1_Intron|ZNF644_ENST00000361321.5_Intron|ZNF644_ENST00000337393.5_Silent_p.T304T|ZNF644_ENST00000347275.5_Intron Q9H582 ZN644_HUMAN zinc finger protein 644 304 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(4)|endometrium(2)|large_intestine(10)|lung(21)|ovary(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 47 all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101) all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173) AGCAATCCTCGGTATAACGAG 0.343000 9 28 2.17888e-05 2.2124e-05 1 1 0 NOTCH1 4851 broad.mit.edu 37 9 139412302 139412302 + Missense_Mutation SNP C C A TCGA-DH-A66B-01A-11D-A29Q-08 TCGA-DH-A66B-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx d02d1ca6-f972-4084-be98-3b722f923bc3 622c34d2-eb7d-4cf0-b262-4ce463976d18 g.chr9:139412302C>A ENST00000277541.6 - 8 1418 c.1343G>T c.(1342-1344)cGa>cTa p.R448L NM_017617.3 NP_060087.3 P46531 NOTC1_HUMAN notch 1 448 EGF-like 11; calcium-binding (Potential). 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) GATCTCGCATCGGGGGCCCGT 0.647000 """T, Mis, O""" TRB@ T-ALL HNSCC(8;0.001) 24 80 4.26978e-12 4.69675e-12 1 1 0 FCRL2 79368 broad.mit.edu 37 1 157738222 157738222 + Missense_Mutation SNP C C T TCGA-DH-A66B-01A-11D-A29Q-08 TCGA-DH-A66B-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx d02d1ca6-f972-4084-be98-3b722f923bc3 622c34d2-eb7d-4cf0-b262-4ce463976d18 g.chr1:157738222C>T ENST00000361516.3 - 5 913 c.865G>A c.(865-867)Gtg>Atg p.V289M FCRL2_ENST00000392274.3_Missense_Mutation_p.V289M|FCRL2_ENST00000368181.4_Intron NM_030764.3 NP_110391.2 Q96LA5 FCRL2_HUMAN Fc receptor-like 2 289 Ig-like C2-type 3. cell-cell signaling integral to membrane|plasma membrane|soluble fraction receptor activity|SH3/SH2 adaptor activity central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|skin(2) 51 all_hematologic(112;0.0378) LUSC - Lung squamous cell carcinoma(543;0.24) GGGATATTCACCACCTTGCTC 0.478000 19 95 0 0 1 0 0 NLRC4 58484 broad.mit.edu 37 2 32449596 32449596 + Silent SNP A A G TCGA-DH-A66B-01A-11D-A29Q-08 TCGA-DH-A66B-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx d02d1ca6-f972-4084-be98-3b722f923bc3 622c34d2-eb7d-4cf0-b262-4ce463976d18 g.chr2:32449596A>G ENST00000404025.2 - 10 3509 c.3021T>C c.(3019-3021)ttT>ttC p.F1007F NLRC4_ENST00000402280.1_Silent_p.F1007F|NLRC4_ENST00000360906.5_Silent_p.F1007F|NLRC4_ENST00000342905.6_Silent_p.F342F Q9NPP4 NLRC4_HUMAN NLR family, CARD domain containing 4 1007 activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis cytoplasm ATP binding|magnesium ion binding|protein homodimerization activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2) 16 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208) CATCATCATCAAATTGCCACC 0.378000 45 65 0 0 1 0 0 OR52M1 119772 broad.mit.edu 37 11 4567331 4567331 + Missense_Mutation SNP A A G TCGA-DH-A66B-01A-11D-A29Q-08 TCGA-DH-A66B-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx d02d1ca6-f972-4084-be98-3b722f923bc3 622c34d2-eb7d-4cf0-b262-4ce463976d18 g.chr11:4567331A>G ENST00000360213.1 + 1 911 c.911A>G c.(910-912)gAg>gGg p.E304G NM_001004137.1 NP_001004137.1 Q8NGK5 O52M1_HUMAN olfactory receptor, family 52, subfamily M, member 1 304 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(2)|lung(9)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 18 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19) CAGATCCGAGAGAGCCTTCTC 0.438000 4 75 0 0 1 0 0 COQ5 84274 broad.mit.edu 37 12 120947837 120947837 + Missense_Mutation SNP C C T TCGA-DH-A66B-01A-11D-A29Q-08 TCGA-DH-A66B-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx d02d1ca6-f972-4084-be98-3b722f923bc3 622c34d2-eb7d-4cf0-b262-4ce463976d18 g.chr12:120947837C>T ENST00000288532.6 - 4 704 c.664G>A c.(664-666)Gtc>Atc p.V222I COQ5_ENST00000445328.2_Missense_Mutation_p.V148I NM_032314.3 NP_115690.3 Q5HYK3 COQ5_HUMAN coenzyme Q5 homolog, methyltransferase (S. cerevisiae) 222 ubiquinone biosynthetic process mitochondrion methyltransferase activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(1)|prostate(1)|urinary_tract(3) 20 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) ATGTGTGTGACATTCCGGATC 0.433000 14 38 0 0 1 0 0 MLLT3 4300 broad.mit.edu 37 9 20414340 20414340 + Silent SNP G G A TCGA-DH-A66B-01A-11D-A29Q-08 TCGA-DH-A66B-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx d02d1ca6-f972-4084-be98-3b722f923bc3 622c34d2-eb7d-4cf0-b262-4ce463976d18 g.chr9:20414340G>A ENST00000380338.4 - 5 790 c.504C>T c.(502-504)agC>agT p.S168S MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S165S|MLLT3_ENST00000355930.6_5'UTR NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 168 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.S168S(5) central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7) 66 GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05) tgctgctgctgctactgctgc 0.537000 T MLL ALL 4 69 0 0 1 0 0 ADAM28 10863 broad.mit.edu 37 8 24181517 24181517 + Splice_Site SNP G G A rs138768775 TCGA-DH-A66B-01A-11D-A29Q-08 TCGA-DH-A66B-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx d02d1ca6-f972-4084-be98-3b722f923bc3 622c34d2-eb7d-4cf0-b262-4ce463976d18 g.chr8:24181517G>A ENST00000265769.4 + 9 1000 c.e9+1 ADAM28_ENST00000397649.3_Splice_Site|RP11-624C23.1_ENST00000523578.1_RNA|ADAM28_ENST00000540823.1_Splice_Site|ADAM28_ENST00000518516.1_Splice_Site|RP11-624C23.1_ENST00000523700.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA|RP11-624C23.1_ENST00000518988.1_RNA|ADAM28_ENST00000437154.2_Splice_Site NM_014265.4 NP_055080.2 Q9UKQ2 ADA28_HUMAN ADAM metallopeptidase domain 28 proteolysis|spermatogenesis extracellular region|integral to membrane|plasma membrane metalloendopeptidase activity|zinc ion binding central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 Prostate(55;0.0959) Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175) AGTTAATCACGTATGTACAGA 0.423000 8 25 0 0 1 0 0 SPATA31C1 0 broad.mit.edu 37 9 90535986 90535986 + RNA SNP G G A TCGA-DH-A66B-01A-11D-A29Q-08 TCGA-DH-A66B-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx d02d1ca6-f972-4084-be98-3b722f923bc3 622c34d2-eb7d-4cf0-b262-4ce463976d18 g.chr9:90535986G>A ENST00000602681.1 + 0 1890 GCCCTGCGTCGCAGAATAAAG 0.517000 60 316 0 0 1 0 0 OTX2 5015 broad.mit.edu 37 14 57268721 57268721 + Missense_Mutation SNP C C A TCGA-DH-A66B-01A-11D-A29Q-08 TCGA-DH-A66B-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx d02d1ca6-f972-4084-be98-3b722f923bc3 622c34d2-eb7d-4cf0-b262-4ce463976d18 g.chr14:57268721C>A ENST00000339475.5 - 5 902 c.626G>T c.(625-627)tGt>tTt p.C209F OTX2_ENST00000408990.3_Missense_Mutation_p.C201F|OTX2_ENST00000554788.1_3'UTR|OTX2_ENST00000555006.1_Missense_Mutation_p.C201F NM_001270523.1|NM_001270524.1|NM_001270525.1|NM_021728.3 NP_001257452.1|NP_001257453.1|NP_001257454.1|NP_068374.1 P32243 OTX2_HUMAN orthodenticle homeobox 2 201 axon guidance|forebrain development|midbrain development|positive regulation of embryonic development|positive regulation of gastrulation|primitive streak formation|protein complex assembly|regulation of fibroblast growth factor receptor signaling pathway|regulation of smoothened signaling pathway growth cone|nucleus|protein complex eukaryotic initiation factor 4E binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1) 19 Medulloblastoma(1;0.00184)|all_neural(1;0.00414) ATATGATCCACAGTCCATGCC 0.522000 20 79 1.50039e-11 1.62337e-11 1 1 0 CEBPE 1053 broad.mit.edu 37 14 23588124 23588124 + Silent SNP G G A rs141320203 TCGA-DH-A66B-01A-11D-A29Q-08 TCGA-DH-A66B-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx d02d1ca6-f972-4084-be98-3b722f923bc3 622c34d2-eb7d-4cf0-b262-4ce463976d18 g.chr14:23588124G>A ENST00000206513.5 - 1 701 c.177C>T c.(175-177)gcC>gcT p.A59A NM_001805.3 NP_001796.2 Q15744 CEBPE_HUMAN CCAAT/enhancer binding protein (C/EBP), epsilon 59 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1) 9 all_cancers(95;4.6e-05) GBM - Glioblastoma multiforme(265;0.0064) CTGGCTTCACGGCAAAGAGAT 0.647000 27 147 0 0 1 0 0 CYP3A4 1576 broad.mit.edu 37 7 99364768 99364768 + Missense_Mutation SNP C C T TCGA-DH-A66B-01A-11D-A29Q-08 TCGA-DH-A66B-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx d02d1ca6-f972-4084-be98-3b722f923bc3 622c34d2-eb7d-4cf0-b262-4ce463976d18 g.chr7:99364768C>T ENST00000354593.2 - 3 437 c.334G>A c.(334-336)Gaa>Aaa p.E112K CYP3A4_ENST00000336411.2_Missense_Mutation_p.E262K P08684 CP3A4_HUMAN cytochrome P450, family 3, subfamily A, polypeptide 4 262 alkaloid catabolic process|androgen metabolic process|exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid catabolic process|xenobiotic metabolic process cell surface|endoplasmic reticulum membrane|integral to membrane|microsome albendazole monooxygenase activity|caffeine oxidase activity|electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding|quinine 3-monooxygenase activity|steroid binding|taurochenodeoxycholate 6alpha-hydroxylase activity|testosterone 6-beta-hydroxylase activity|vitamin D 24-hydroxylase activity|vitamin D3 25-hydroxylase activity breast(3)|central_nervous_system(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|skin(2) 18 Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228) Albendazole(DB00518)|Alclometasone(DB00240)|Alfentanil(DB00802)|Alfuzosin(DB00346)|Aliskiren(DB01258)|Almotriptan(DB00918)|Alosetron(DB00969)|Alprazolam(DB00404)|Amlodipine(DB00381)|Amprenavir(DB00701)|Aprepitant(DB00673)|Aripiprazole(DB01238)|Astemizole(DB00637)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Benazepril(DB00542)|Bepridil(DB01244)|Betamethasone(DB00443)|Bexarotene(DB00307)|Bortezomib(DB00188)|Bosentan(DB00559)|Bromocriptine(DB01200)|Budesonide(DB01222)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Buspirone(DB00490)|Busulfan(DB01008)|Carbamazepine(DB00564)|Cevimeline(DB00185)|Chlorpheniramine(DB01114)|Ciclesonide(DB01410)|Cilostazol(DB01166)|Cinacalcet(DB01012)|Cisapride(DB00604)|Clarithromycin(DB01211)|Clindamycin(DB01190)|Clofibrate(DB00636)|Clonazepam(DB01068)|Clopidogrel(DB00758)|Cocaine(DB00907)|Conivaptan(DB00872)|Conjugated Estrogens(DB00286)|Cyproterone(DB04839)|Darifenacin(DB00496)|Darunavir(DB01264)|Dasatinib(DB01254)|Delavirdine(DB00705)|Desogestrel(DB00304)|Dexamethasone(DB01234)|Diazepam(DB00829)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Diphenhydramine(DB01075)|Disopyramide(DB00280)|Dofetilide(DB00204)|Dolasetron(DB00757)|Domperidone(DB01184)|Donepezil(DB00843)|Doxorubicin(DB00997)|Drospirenone(DB01395)|Dutasteride(DB01126)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enalapril(DB00584)|Epirubicin(DB00445)|Eplerenone(DB00700)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Escitalopram(DB01175)|Esomeprazole(DB00736)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethinyl Estradiol(DB00977)|Ethosuximide(DB00593)|Etonogestrel(DB00294)|Etoposide(DB00773)|Etoricoxib(DB01628)|Exemestane(DB00990)|Felodipine(DB01023)|Fentanyl(DB00813)|Fexofenadine(DB00950)|Finasteride(DB01216)|Fluconazole(DB00196)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Fosamprenavir(DB01319)|Fulvestrant(DB00947)|Galantamine(DB00674)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Granisetron(DB00889)|Grepafloxacin(DB00365)|Halofantrine(DB01218)|Hydrocodone(DB00956)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Hydromorphone(DB00327)|Imatinib(DB00619)|Indinavir(DB00224)|Ipratropium(DB00332)|Irinotecan(DB00762)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Isradipine(DB00270)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lercanidipine(DB00528)|Letrozole(DB01006)|Levobupivacaine(DB01002)|Levomethadyl Acetate(DB01227)|Levothyroxine(DB00451)|Lomustine(DB01206)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Maraviroc(DB04835)|Marinol(DB00470)|Mebendazole(DB00643)|Medroxyprogesterone(DB00603)|Methadone(DB00333)|Methylprednisolone(DB00959)|Metyrapone(DB01011)|Mibefradil(DB01388)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirtazapine(DB00370)|Modafinil(DB00745)|Mometasone(DB00764)|Montelukast(DB00471)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Norethindrone(DB00717)|Norgestrel(DB00506)|Nystatin(DB00646)|Ondansetron(DB00904)|Oxybutynin(DB01062)|Paclitaxel(DB01229)|Paliperidone(DB01267)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Paricalcitol(DB00910)|Phenmetrazine(DB00830)|Pimecrolimus(DB00337)|Pimozide(DB01100)|Pioglitazone(DB01132)|Posaconazole(DB01263)|Pranlukast(DB01411)|Prednisolone(DB00860)|Prednisone(DB00635)|Prochlorperazine(DB00433)|Quetiapine(DB01224)|Quinapril(DB00881)|Quinine(DB00468)|Rabeprazole(DB01129)|Ranolazine(DB00243)|Reboxetine(DB00234)|Retapamulin(DB01256)|Rifabutin(DB00615)|Rifampin(DB01045)|Rimonabant(DB06155)|Ritonavir(DB00503)|Rofecoxib(DB00533)|Roxithromycin(DB00778)|Salmeterol(DB00938)|Saquinavir(DB01232)|Sertindole(DB06144)|Sibutramine(DB01105)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|Solifenacin(DB01591)|Sorafenib(DB00398)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tadalafil(DB00820)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Terconazole(DB00251)|Terfenadine(DB00342)|Testosterone(DB00624)|Tiagabine(DB00906)|Ticlopidine(DB00208)|Tinidazole(DB00911)|Tiotropium(DB01409)|Tipranavir(DB00932)|Toremifene(DB00539)|Triazolam(DB00897)|Trimetrexate(DB01157)|Troglitazone(DB00197)|Valdecoxib(DB00580)|Vardenafil(DB00862)|Vinblastine(DB00570)|Vincristine(DB00541)|Vindesine(DB00309)|Vinorelbine(DB00361)|Voriconazole(DB00582)|Zaleplon(DB00962)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolpidem(DB00425)|Zonisamide(DB00909) TGTGTATCTTCGAGGCGACTT 0.308000 14 45 0 0 1 0 0 EIF4G3 8672 broad.mit.edu 37 1 21183987 21183987 + Frame_Shift_Del DEL A A - TCGA-DH-A66B-01A-11D-A29Q-08 TCGA-DH-A66B-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx d02d1ca6-f972-4084-be98-3b722f923bc3 622c34d2-eb7d-4cf0-b262-4ce463976d18 g.chr1:21183987delA ENST00000602326.1 - 23 3681 c.3098delT c.(3097-3099)gcfs p.V1033fs EIF4G3_ENST00000537738.1_Frame_Shift_Del_p.V517fs|EIF4G3_ENST00000374935.3_Frame_Shift_Del_p.V747fs|EIF4G3_ENST00000264211.8_Frame_Shift_Del_p.V1027fs|EIF4G3_ENST00000374937.3_Frame_Shift_Del_p.V1033fs|EIF4G3_ENST00000536266.1_Frame_Shift_Del_p.V631fs|EIF4G3_ENST00000400422.1_Frame_Shift_Del_p.V1027fs NM_001198802.1 NP_001185731.1 O43432 IF4G3_HUMAN eukaryotic translation initiation factor 4 gamma, 3 1027 interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process eukaryotic translation initiation factor 4F complex protein binding|RNA cap binding|translation initiation factor activity endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3) 70 all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256) UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191) CACTCTCTGGACACCTGCAGG 0.463 51 225 --- --- --- --- RP11-69E11.4 0 broad.mit.edu 37 1 39991730 39991731 + RNA INS - - GAGT rs142640325 by1000genomes TCGA-DH-A66B-01A-11D-A29Q-08 TCGA-DH-A66B-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx d02d1ca6-f972-4084-be98-3b722f923bc3 622c34d2-eb7d-4cf0-b262-4ce463976d18 g.chr1:39991730_39991731insGAGT ENST00000458207.1 - 0 241 RP11-69E11.4_ENST00000417869.1_RNA|RP11-69E11.4_ENST00000440190.1_RNA|RP11-69E11.4_ENST00000431553.1_RNA|RP11-69E11.4_ENST00000450157.1_RNA TGCACTGTCTGGAGTCAGCACA 0.589 6 5 --- --- --- --- ATF2 1386 broad.mit.edu 37 2 175957831 175957833 + In_Frame_Del DEL CTC CTC - TCGA-DH-A66B-01A-11D-A29Q-08 TCGA-DH-A66B-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx d02d1ca6-f972-4084-be98-3b722f923bc3 622c34d2-eb7d-4cf0-b262-4ce463976d18 g.chr2:175957831_175957833delCTC ENST00000264110.2 - 12 1439_1441 c.1141_1143delGAG c.(1141-1143)del p.E381del ATF2_ENST00000392544.1_In_Frame_Del_p.E381del|ATF2_ENST00000538946.1_In_Frame_Del_p.E363del|ATF2_ENST00000487334.2_3'UTR|ATF2_ENST00000409499.1_Intron|ATF2_ENST00000409635.1_In_Frame_Del_p.E323del|ATF2_ENST00000392543.2_Intron|ATF2_ENST00000345739.5_In_Frame_Del_p.E323del|ATF2_ENST00000426833.3_In_Frame_Del_p.E363del|ATF2_ENST00000409437.1_In_Frame_Del_p.E265del NM_001256090.1|NM_001256091.1|NM_001880.3 NP_001243019.1|NP_001243020.1|NP_001871.2 P15336 ATF2_HUMAN activating transcription factor 2 381 Leucine-zipper. innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway nucleoplasm protein dimerization activity|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|pancreas(1)|skin(1) 17 OV - Ovarian serous cystadenocarcinoma(117;0.125) CAGCTTTCTTCTCTAAAGACTGA 0.350 38 95 --- --- --- --- RGL2 5863 broad.mit.edu 37 6 33261741 33261741 + Frame_Shift_Del DEL G G - TCGA-DH-A66B-01A-11D-A29Q-08 TCGA-DH-A66B-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx d02d1ca6-f972-4084-be98-3b722f923bc3 622c34d2-eb7d-4cf0-b262-4ce463976d18 g.chr6:33261741delG ENST00000444031.2 - 11 1354 c.1210delC c.(1210-1212)agfs p.Q404fs PFDN6_ENST00000463584.1_Intron|RGL2_ENST00000497454.1_Intron|RGL2_ENST00000437840.2_Intron O15211 RGL2_HUMAN ral guanine nucleotide dissociation stimulator-like 2 462 Ras-GEF. Ras protein signal transduction|regulation of small GTPase mediated signal transduction intracellular Ras guanyl-nucleotide exchange factor activity breast(2)|cervix(2)|endometrium(7)|kidney(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1) 34 AGGGACCCCTGACTTTTCCCC 0.542 76 304 --- --- --- --- TMEM243 79161 broad.mit.edu 37 7 86827232 86827235 + Frame_Shift_Del DEL TGTT TGTT - TCGA-DH-A66B-01A-11D-A29Q-08 TCGA-DH-A66B-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx d02d1ca6-f972-4084-be98-3b722f923bc3 622c34d2-eb7d-4cf0-b262-4ce463976d18 g.chr7:86827232_86827235delTGTT ENST00000423734.1 - 3 382_385 c.256_259delAACA c.(256-261)gtfs p.NS86fs TMEM243_ENST00000257637.3_Intron|TMEM243_ENST00000433078.1_Intron|TMEM243_ENST00000481425.1_Intron transmembrane protein 243, mitochondrial TCAAGAACACTGTTTAAATTCTCA 0.387 19 41 --- --- --- --- XKR5 389610 broad.mit.edu 37 8 6673270 6673270 + RNA DEL A A - TCGA-DH-A66B-01A-11D-A29Q-08 TCGA-DH-A66B-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx d02d1ca6-f972-4084-be98-3b722f923bc3 622c34d2-eb7d-4cf0-b262-4ce463976d18 g.chr8:6673270delA ENST00000518724.1 - 0 1071 Q6UX68 XKR5_HUMAN XK, Kell blood group complex subunit-related family, member 5 integral to membrane endometrium(1)|large_intestine(1)|lung(1) 3 STAD - Stomach adenocarcinoma(24;0.0984) READ - Rectum adenocarcinoma(644;0.137)|COAD - Colon adenocarcinoma(149;0.166) AGCCCATTGTAAAAAAAAAAA 0.502 OREG0018511 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 2 4 --- --- --- --- SCRIB 23513 broad.mit.edu 37 8 144886879 144886882 + Frame_Shift_Del DEL GGGA GGGA - TCGA-DH-A66B-01A-11D-A29Q-08 TCGA-DH-A66B-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx d02d1ca6-f972-4084-be98-3b722f923bc3 622c34d2-eb7d-4cf0-b262-4ce463976d18 g.chr8:144886879_144886882delGGGA ENST00000356994.2 - 21 2871_2874 c.2865_2868delTCCC c.(2863-2868)ccfs p.PP955fs SCRIB_ENST00000320476.3_Frame_Shift_Del_p.PP955fs|SCRIB_ENST00000377533.3_Frame_Shift_Del_p.PP874fs NM_182706.4 NP_874365.3 Q14160 SCRIB_HUMAN scribbled planar cell polarity protein 955 Interaction with ARHGEF7. activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction cell-cell adherens junction|Scrib-APC-beta-catenin complex protein binding NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 42 all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18) GCAGAGGGCTGGGAGGAAGAGGGC 0.696 10 31 --- --- --- --- RGS3 5998 broad.mit.edu 37 9 116246504 116246506 + In_Frame_Del DEL CTT CTT - TCGA-DH-A66B-01A-11D-A29Q-08 TCGA-DH-A66B-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx d02d1ca6-f972-4084-be98-3b722f923bc3 622c34d2-eb7d-4cf0-b262-4ce463976d18 g.chr9:116246504_116246506delCTT ENST00000374140.2 + 7 821_823 c.612_614delCTT c.(610-615)cac>ca p.HF204del RGS3_ENST00000350696.5_In_Frame_Del_p.HF204del|RGS3_ENST00000317613.6_In_Frame_Del_p.HF92del NM_144488.4 NP_652759.3 P49796 RGS3_HUMAN regulator of G-protein signaling 3 204 C2. inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway cytosol|nucleus|plasma membrane GTPase activator activity|signal transducer activity cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 48 TCCACGAGCACTTCTTCTTGTAA 0.473 13 88 --- --- --- --- MALAT1 0 broad.mit.edu 37 11 65270886 65270887 + RNA INS - - TA TCGA-DH-A66B-01A-11D-A29Q-08 TCGA-DH-A66B-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx d02d1ca6-f972-4084-be98-3b722f923bc3 622c34d2-eb7d-4cf0-b262-4ce463976d18 g.chr11:65270886_65270887insTA ENST00000534336.1 + 0 5654_5655 NR_002819.2 ATTTGCATCTTTAAATAATTTC 0.371 12 55 --- --- --- --- KMT2A 4297 broad.mit.edu 37 11 118343733 118343735 + In_Frame_Del DEL CTT CTT - TCGA-DH-A66B-01A-11D-A29Q-08 TCGA-DH-A66B-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx d02d1ca6-f972-4084-be98-3b722f923bc3 622c34d2-eb7d-4cf0-b262-4ce463976d18 g.chr11:118343733_118343735delCTT ENST00000534358.1 + 3 1882_1884 c.1859_1861delCTT c.(1858-1863)act>a p.TS620del KMT2A_ENST00000389506.5_In_Frame_Del_p.TS620del|KMT2A_ENST00000354520.4_In_Frame_Del_p.TS620del NM_001197104.1|NM_005933.3 NP_001184033.1|NP_005924.2 lysine (K)-specific methyltransferase 2A TTTAGGTGGACTTCTTTAAAGCA 0.433 13 78 --- --- --- --- RXFP2 122042 broad.mit.edu 37 13 32371470 32371471 + Frame_Shift_Del DEL TC TC - TCGA-DH-A66B-01A-11D-A29Q-08 TCGA-DH-A66B-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx d02d1ca6-f972-4084-be98-3b722f923bc3 622c34d2-eb7d-4cf0-b262-4ce463976d18 g.chr13:32371470_32371471delTC ENST00000298386.2 + 17 1990_1991 c.1919_1920delTC c.(1918-1920)tfs p.F642fs RXFP2_ENST00000380314.1_Frame_Shift_Del_p.F618fs NM_130806.3 NP_570718.1 Q8WXD0 RXFP2_HUMAN relaxin/insulin-like family peptide receptor 2 642 integral to membrane|plasma membrane cervix(1)|endometrium(2)|large_intestine(15)|lung(13)|prostate(1)|stomach(1) 33 Lung SC(185;0.0262) all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535) GCAAATCGTTTCTTTTTTATAG 0.396 45 53 --- --- --- --- ADCY9 115 broad.mit.edu 37 16 4165289 4165291 + In_Frame_Del DEL GAG GAG - TCGA-DH-A66B-01A-11D-A29Q-08 TCGA-DH-A66B-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx d02d1ca6-f972-4084-be98-3b722f923bc3 622c34d2-eb7d-4cf0-b262-4ce463976d18 g.chr16:4165289_4165291delGAG ENST00000294016.3 - 2 691_693 c.153_155delCTC c.(151-156)tct>tc p.SS51del NM_001116.3 NP_001107.2 O60503 ADCY9_HUMAN adenylate cyclase 9 51 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to plasma membrane adenylate cyclase activity|ATP binding|metal ion binding p.S52C(1) breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 GCTGCAGCTAGAGGAGATGCTGT 0.665 9 57 --- --- --- --- PPL 5493 broad.mit.edu 37 16 4935140 4935142 + In_Frame_Del DEL CTC CTC - TCGA-DH-A66B-01A-11D-A29Q-08 TCGA-DH-A66B-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx d02d1ca6-f972-4084-be98-3b722f923bc3 622c34d2-eb7d-4cf0-b262-4ce463976d18 g.chr16:4935140_4935142delCTC ENST00000345988.2 - 22 3603_3605 c.3514_3516delGAG c.(3514-3516)del p.E1172del PPL_ENST00000590782.2_In_Frame_Del_p.E1170del NM_002705.4 NP_002696.3 O60437 PEPL_HUMAN periplakin 1172 keratinization cytoskeleton|desmosome|mitochondrion|nucleus protein binding|structural constituent of cytoskeleton breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2) 62 CCCGCACCTTCTCCTGCACCACC 0.635 25 230 --- --- --- --- DNAJA2 10294 broad.mit.edu 37 16 46991039 46991040 + Frame_Shift_Del DEL CT CT - TCGA-DH-A66B-01A-11D-A29Q-08 TCGA-DH-A66B-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx d02d1ca6-f972-4084-be98-3b722f923bc3 622c34d2-eb7d-4cf0-b262-4ce463976d18 g.chr16:46991039_46991040delCT ENST00000317089.5 - 9 1355_1356 c.1140_1141delAG c.(1138-1143)cggcfs p.RG380fs NM_005880.3 NP_005871.1 O60884 DNJA2_HUMAN DnaJ (Hsp40) homolog, subfamily A, member 2 380 positive regulation of cell proliferation|protein folding|response to heat membrane ATP binding|heat shock protein binding|metal ion binding|unfolded protein binding p.R380R(1) endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|upper_aerodigestive_tract(1) 14 all_cancers(37;0.00125)|all_lung(18;0.00338)|all_epithelial(9;0.00358)|Lung NSC(13;0.0309)|Breast(268;0.116) CCTCCTGAGCCTCGAGTGCTAT 0.465 156 305 --- --- --- --- TP53 7157 broad.mit.edu 37 17 7576886 7576887 + Frame_Shift_Ins INS - - T TCGA-DH-A66B-01A-11D-A29Q-08 TCGA-DH-A66B-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx d02d1ca6-f972-4084-be98-3b722f923bc3 622c34d2-eb7d-4cf0-b262-4ce463976d18 g.chr17:7576886_7576887insT ENST00000420246.2 - 9 1091_1092 c.959_960insA c.(958-960)aaafs p.K320fs TP53_ENST00000269305.4_Frame_Shift_Ins_p.K320fs|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Frame_Shift_Ins_p.K320fs|TP53_ENST00000455263.2_Frame_Shift_Ins_p.K320fs|TP53_ENST00000445888.2_Frame_Shift_Ins_p.K320fs NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 320 Interaction with CARM1.|Interaction with HIPK1 (By similarity).|Interaction with HIPK2. K -> N (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.0?(8)|p.K320N(3)|p.K320fs*26(2)|p.P318fs*15(2)|p.P318fs*21(1)|p.S315fs*22(1)|p.?(1)|p.K320fs*25(1)|p.L308fs*15(1)|p.K320K(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) CCAGTGGTTTCTTCTTTGGCTG 0.460 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 83 21 --- --- --- --- RP11-434D2.3 0 broad.mit.edu 37 17 20452860 20452861 + RNA INS - - AGA TCGA-DH-A66B-01A-11D-A29Q-08 TCGA-DH-A66B-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx d02d1ca6-f972-4084-be98-3b722f923bc3 622c34d2-eb7d-4cf0-b262-4ce463976d18 g.chr17:20452860_20452861insAGA ENST00000591705.1 + 0 4177_4178 CAGGACCTGGGAGAAGGAGTGC 0.653 3 4 --- --- --- --- CACNA1A 773 broad.mit.edu 37 19 13318673 13318678 + In_Frame_Del DEL CTGCTG CTGCTG - rs36208091 TCGA-DH-A66B-01A-11D-A29Q-08 TCGA-DH-A66B-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx d02d1ca6-f972-4084-be98-3b722f923bc3 622c34d2-eb7d-4cf0-b262-4ce463976d18 g.chr19:13318673_13318678delCTGCTG ENST00000360228.5 - 47 6969_6974 c.6970_6975delCAGCAG c.(6970-6975)del p.QQ2324del CACNA1A_ENST00000573710.2_3'UTR NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2 NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2 O00555 CAC1A_HUMAN calcium channel, voltage-dependent, P/Q type, alpha 1A subunit 2323 Poly-Gln. cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion cytoplasm|nucleus syntaxin binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1) 42 OV - Ovarian serous cystadenocarcinoma(19;5.07e-21) Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230) TGGCCACCGCctgctgctgctgctgc 0.767 2 4 --- --- --- --- LMTK3 114783 broad.mit.edu 37 19 49003052 49003052 + Frame_Shift_Del DEL G G - TCGA-DH-A66B-01A-11D-A29Q-08 TCGA-DH-A66B-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx d02d1ca6-f972-4084-be98-3b722f923bc3 622c34d2-eb7d-4cf0-b262-4ce463976d18 g.chr19:49003052delG ENST00000600059.1 - 11 1501 c.1274delC c.(1273-1275)cafs p.P426fs LMTK3_ENST00000270238.3_Frame_Shift_Del_p.P455fs lemur tyrosine kinase 3 breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(9)|prostate(1) 16 all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231) GTCTCGGGGTGGGGGTGGCGG 0.716 2 4 --- --- --- --- ATRX 546 broad.mit.edu 37 X 76938097 76938100 + Frame_Shift_Del DEL TCTT TCTT - TCGA-DH-A66B-01A-11D-A29Q-08 TCGA-DH-A66B-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx d02d1ca6-f972-4084-be98-3b722f923bc3 622c34d2-eb7d-4cf0-b262-4ce463976d18 g.chrX:76938097_76938100delTCTT ENST00000373344.5 - 9 2862_2865 c.2648_2651delAAGA c.(2647-2652)cgfs p.QE883fs ATRX_ENST00000395603.3_Frame_Shift_Del_p.QE845fs|ATRX_ENST00000480283.1_5'UTR NM_000489.3 NP_000480.2 P46100 ATRX_HUMAN alpha thalassemia/mental retardation syndrome X-linked 883 DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent nuclear heterochromatin ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding p.?(1) bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 145 Phosphatidylserine(DB00144) AGTCTCTCTCTCTTGTTTTCTTTC 0.407 """Mis, F, N""" """Pancreatic neuroendocrine tumors, paediatric GBM""" ATR-X (alpha thalassemia/mental retardation) syndrome 79 28 --- --- --- ---