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 KMT2D 8085 broad.mit.edu 37 12 49445334 49445334 + Missense_Mutation SNP G G A TCGA-E8-A432-01A-11D-A23M-08 TCGA-E8-A432-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx d434e375-e0a6-4f04-b106-ab3c84590b36 2a2116f3-bd77-4060-91f8-11f3d1af5327 g.chr12:49445334G>A ENST00000301067.7 - 10 2131 c.2132C>T c.(2131-2133)cCg>cTg p.P711L NM_003482.3 NP_003473.3 lysine (K)-specific methyltransferase 2D CGAGTCCTCCGGTGGTGGGGA 0.672000 16 81 0 0 1 0 0 DOCK7 85440 broad.mit.edu 37 1 63044512 63044512 + Missense_Mutation SNP G G A TCGA-E8-A432-01A-11D-A23M-08 TCGA-E8-A432-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx d434e375-e0a6-4f04-b106-ab3c84590b36 2a2116f3-bd77-4060-91f8-11f3d1af5327 g.chr1:63044512G>A ENST00000251157.5 - 17 2030 c.1997C>T c.(1996-1998)cCa>cTa p.P666L DOCK7_ENST00000340370.5_Missense_Mutation_p.P666L NM_001271999.1 NP_001258928.1 Q96N67 DOCK7_HUMAN dedicator of cytokinesis 7 666 DHR-1. activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation axon|basal part of cell|growth cone GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 92 ATATCCAACTGGTGTTTCAAG 0.313000 5 29 0 0 1 0 0 PLCH1 23007 broad.mit.edu 37 3 155311968 155311968 + Missense_Mutation SNP T T A TCGA-E8-A432-01A-11D-A23M-08 TCGA-E8-A432-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx d434e375-e0a6-4f04-b106-ab3c84590b36 2a2116f3-bd77-4060-91f8-11f3d1af5327 g.chr3:155311968T>A ENST00000460012.1 - 4 499 c.142A>T c.(142-144)Att>Ttt p.I48F PLCH1_ENST00000447496.2_Missense_Mutation_p.I66F|PLCH1_ENST00000414191.1_Missense_Mutation_p.I48F|PLCH1_ENST00000334686.6_Missense_Mutation_p.I48F|PLCH1_ENST00000340059.7_Missense_Mutation_p.I66F|PLCH1_ENST00000494598.1_Missense_Mutation_p.I66F Q4KWH8 PLCH1_HUMAN phospholipase C, eta 1 66 PH. lipid catabolic process|phosphatidylinositol-mediated signaling membrane calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4) 107 Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114) ATGGAATCAATAAGTACTGTG 0.403000 18 32 0 0 1 0 0 SLC22A6 9356 broad.mit.edu 37 11 62744805 62744805 + Missense_Mutation SNP G G C TCGA-E8-A432-01A-11D-A23M-08 TCGA-E8-A432-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx d434e375-e0a6-4f04-b106-ab3c84590b36 2a2116f3-bd77-4060-91f8-11f3d1af5327 g.chr11:62744805G>C ENST00000377871.3 - 9 1682 c.1416C>G c.(1414-1416)agC>agG p.S472R SLC22A6_ENST00000421062.2_Intron|SLC22A6_ENST00000360421.4_Missense_Mutation_p.S472R|SLC22A6_ENST00000458333.2_Intron NM_004790.4|NM_153278.2 NP_004781.2|NP_695010.1 Q4U2R8 S22A6_HUMAN solute carrier family 22 (organic anion transporter), member 6 472 alpha-ketoglutarate transport basolateral plasma membrane|integral to plasma membrane|membrane fraction inorganic anion exchanger activity|protein binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(18)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 36 TCACCAGTGGGCTCACGATGC 0.622000 7 36 0 0 1 0 0 BTN3A3 10384 broad.mit.edu 37 6 26452015 26452015 + Missense_Mutation SNP A A T TCGA-E8-A432-01A-11D-A23M-08 TCGA-E8-A432-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx d434e375-e0a6-4f04-b106-ab3c84590b36 2a2116f3-bd77-4060-91f8-11f3d1af5327 g.chr6:26452015A>T ENST00000244519.2 + 11 1374 c.1131A>T c.(1129-1131)agA>agT p.R377S BTN3A3_ENST00000361232.3_Missense_Mutation_p.R328S|BTN3A3_ENST00000339789.4_Missense_Mutation_p.R335S NM_006994.4 NP_008925.1 O00478 BT3A3_HUMAN butyrophilin, subfamily 3, member A3 377 B30.2/SPRY. integral to membrane cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 30 ACCCTGAGAGATTTGAATGGC 0.537000 12 55 0 0 1 0 0 VTRNA2-1 0 broad.mit.edu 37 5 135416184 135416184 + RNA SNP A A G TCGA-E8-A432-01A-11D-A23M-08 TCGA-E8-A432-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx d434e375-e0a6-4f04-b106-ab3c84590b36 2a2116f3-bd77-4060-91f8-11f3d1af5327 g.chr5:135416184A>G ENST00000602301.1 - 0 102 NR_030583.2 AATTTATTGCATAAAAGGGTC 0.433000 20 43 0 0 1 0 0 MALAT1 0 broad.mit.edu 37 11 65272954 65272954 + RNA SNP C C T TCGA-E8-A432-01A-11D-A23M-08 TCGA-E8-A432-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx d434e375-e0a6-4f04-b106-ab3c84590b36 2a2116f3-bd77-4060-91f8-11f3d1af5327 g.chr11:65272954C>T ENST00000534336.1 + 0 7722 NR_002819.2 AGGGGGAAAGCGGGCAACCAC 0.478000 14 69 0 0 1 0 0 EP400 57634 broad.mit.edu 37 12 132547087 132547087 + Silent SNP G G A rs12366766 TCGA-E8-A432-01A-11D-A23M-08 TCGA-E8-A432-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx d434e375-e0a6-4f04-b106-ab3c84590b36 2a2116f3-bd77-4060-91f8-11f3d1af5327 g.chr12:132547087G>A ENST00000333577.4 + 48 8392 c.8283G>A c.(8281-8283)caG>caA p.Q2761Q EP400_ENST00000330386.6_Silent_p.Q2644Q|EP400_ENST00000389561.2_Silent_p.Q2725Q|EP400_ENST00000332482.4_Silent_p.Q2688Q|EP400_ENST00000389562.2_Silent_p.Q2724Q Q96L91 EP400_HUMAN E1A binding protein p400 2761 Interaction with ZNF42 (By similarity).|Poly-Gln. histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity p.Q2724Q(16)|p.Q2725Q(1) NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 161 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) agcagcagcagcaacaacagc 0.562000 4 59 0 0 1 0 0 POU2AF1 5450 broad.mit.edu 37 11 111228203 111228203 + Silent SNP G G A TCGA-E8-A432-01A-11D-A23M-08 TCGA-E8-A432-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx d434e375-e0a6-4f04-b106-ab3c84590b36 2a2116f3-bd77-4060-91f8-11f3d1af5327 g.chr11:111228203G>A ENST00000393067.3 - 4 937 c.423C>T c.(421-423)acC>acT p.T141T NM_006235.2 NP_006226.2 Q16633 OBF1_HUMAN POU class 2 associating factor 1 141 T -> A (in dbSNP:rs1042750). humoral immune response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nucleus protein binding|transcription coactivator activity breast(1)|kidney(2)|lung(2) 5 all_cancers(61;1.36e-12)|all_epithelial(67;1.87e-07)|Melanoma(852;1.46e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|all_neural(223;0.0146)|Medulloblastoma(222;0.0245)|Breast(348;0.0389) Epithelial(105;1.01e-06)|BRCA - Breast invasive adenocarcinoma(274;3.12e-06)|all cancers(92;1.8e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0364) GAGAGGCATAGGTCAACACTG 0.577000 T BCL6 NHL 11 49 0 0 1 0 0 OR5D13 390142 broad.mit.edu 37 11 55541674 55541674 + Missense_Mutation SNP A A G TCGA-E8-A432-01A-11D-A23M-08 TCGA-E8-A432-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx d434e375-e0a6-4f04-b106-ab3c84590b36 2a2116f3-bd77-4060-91f8-11f3d1af5327 g.chr11:55541674A>G ENST00000361760.1 + 1 761 c.761A>G c.(760-762)cAt>cGt p.H254R NM_001001967.1 NP_001001967.1 Q8NGL4 OR5DD_HUMAN olfactory receptor, family 5, subfamily D, member 13 254 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1) 40 all_epithelial(135;0.196) ACTATCTTCCATGGAACTATC 0.443000 22 50 0 0 1 0 0 NPAP1 23742 broad.mit.edu 37 15 24921341 24921341 + Silent SNP A A G TCGA-E8-A432-01A-11D-A23M-08 TCGA-E8-A432-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx d434e375-e0a6-4f04-b106-ab3c84590b36 2a2116f3-bd77-4060-91f8-11f3d1af5327 g.chr15:24921341A>G ENST00000329468.2 + 1 801 c.327A>G c.(325-327)ggA>ggG p.G109G NM_018958.2 NP_061831.2 nuclear pore associated protein 1 CGAGGTTTGGACACCCCAGTT 0.677000 9 56 0 0 1 0 0 LNPEP 4012 broad.mit.edu 37 5 96358148 96358148 + Missense_Mutation SNP A A G TCGA-E8-A432-01A-11D-A23M-08 TCGA-E8-A432-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx d434e375-e0a6-4f04-b106-ab3c84590b36 2a2116f3-bd77-4060-91f8-11f3d1af5327 g.chr5:96358148A>G ENST00000231368.5 + 14 3213 c.2521A>G c.(2521-2523)Aaa>Gaa p.K841E LNPEP_ENST00000395770.3_Missense_Mutation_p.K827E NM_005575.2 NP_005566.2 Q9UIQ6 LCAP_HUMAN leucyl/cystinyl aminopeptidase 841 cell-cell signaling|female pregnancy|proteolysis extracellular region|integral to plasma membrane aminopeptidase activity|metallopeptidase activity|zinc ion binding breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|skin(1)|urinary_tract(1) 34 all_cancers(142;7e-07)|all_epithelial(76;9.52e-10)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0269)|Breast(839;0.244) COAD - Colon adenocarcinoma(37;0.072) TACTGCCATGAAACTGTTTGA 0.443000 12 22 0 0 1 0 0 ARSK 153642 broad.mit.edu 37 5 94891099 94891099 + Silent SNP C C T TCGA-E8-A432-01A-11D-A23M-08 TCGA-E8-A432-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx d434e375-e0a6-4f04-b106-ab3c84590b36 2a2116f3-bd77-4060-91f8-11f3d1af5327 g.chr5:94891099C>T ENST00000380009.4 + 1 322 c.117C>T c.(115-117)agC>agT p.S39S ARSK_ENST00000504763.1_Silent_p.S39S NM_198150.2 NP_937793.1 Q6UWY0 ARSK_HUMAN arylsulfatase family, member K 39 extracellular region arylsulfatase activity|metal ion binding endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(1) 16 all_cancers(142;3.38e-06)|all_epithelial(76;6.57e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.00473) all cancers(79;6.5e-16) TGGTCGTGAGCGACTCCTTCG 0.701000 5 22 0 0 1 0 0 NCOA6 23054 broad.mit.edu 37 20 33345744 33345744 + Silent SNP C C T TCGA-E8-A432-01A-11D-A23M-08 TCGA-E8-A432-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx d434e375-e0a6-4f04-b106-ab3c84590b36 2a2116f3-bd77-4060-91f8-11f3d1af5327 g.chr20:33345744C>T ENST00000374796.2 - 8 3377 c.807G>A c.(805-807)caG>caA p.Q269Q NCOA6_ENST00000359003.2_Silent_p.Q269Q Q14686 NCOA6_HUMAN nuclear receptor coactivator 6 269 CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region. brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter transcription factor complex chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding p.Q269Q(15) NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1) 107 gctgctgctgctgttgttgtt 0.537000 4 50 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179399347 179399347 + Missense_Mutation SNP A A T TCGA-E8-A432-01A-11D-A23M-08 TCGA-E8-A432-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx d434e375-e0a6-4f04-b106-ab3c84590b36 2a2116f3-bd77-4060-91f8-11f3d1af5327 g.chr2:179399347A>T ENST00000589042.1 - 358 102219 c.101995T>A c.(101995-101997)Tgg>Agg p.W33999R TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.W25059R|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.W24934R|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.W25126R|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.W32358R|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.W31431R NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 32358 Ig-like 150. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CCAAGTGACCACATGTCTGTG 0.453000 16 56 0 0 1 0 0 HCFC1 3054 broad.mit.edu 37 X 153219825 153219825 + Missense_Mutation SNP G G A TCGA-E8-A432-01A-11D-A23M-08 TCGA-E8-A432-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx d434e375-e0a6-4f04-b106-ab3c84590b36 2a2116f3-bd77-4060-91f8-11f3d1af5327 g.chrX:153219825G>A ENST00000310441.7 - 17 4991 c.4025C>T c.(4024-4026)aCg>aTg p.T1342M HCFC1_ENST00000369984.4_Missense_Mutation_p.T1342M|HCFC1_ENST00000354233.3_Missense_Mutation_p.T1273M NM_005334.2 NP_005325.2 P51610 HCFC1_HUMAN host cell factor C1 (VP16-accessory protein) 1342 cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) GGGCTGGCCCGTGCCCCCGTT 0.687000 5 189 0 0 1 0 0 ZC3H13 23091 broad.mit.edu 37 13 46549950 46549950 + Nonsense_Mutation SNP G G A TCGA-E8-A432-01A-11D-A23M-08 TCGA-E8-A432-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx d434e375-e0a6-4f04-b106-ab3c84590b36 2a2116f3-bd77-4060-91f8-11f3d1af5327 g.chr13:46549950G>A ENST00000242848.4 - 12 2284 c.1936C>T c.(1936-1938)Cga>Tga p.R646* ZC3H13_ENST00000282007.3_Nonsense_Mutation_p.R646* Q5T200 ZC3HD_HUMAN zinc finger CCCH-type containing 13 646 Arg/Ser-rich. nucleic acid binding|zinc ion binding p.R646*(1) cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 79 Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;4.18e-05) CCCTGATGTCGAATTGGTGAG 0.403000 12 27 0 0 1 0 0 ZNF76 7629 broad.mit.edu 37 6 35255551 35255551 + Missense_Mutation SNP G G T TCGA-E8-A432-01A-11D-A23M-08 TCGA-E8-A432-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx d434e375-e0a6-4f04-b106-ab3c84590b36 2a2116f3-bd77-4060-91f8-11f3d1af5327 g.chr6:35255551G>T ENST00000373953.3 + 5 627 c.361G>T c.(361-363)Gac>Tac p.D121Y ZNF76_ENST00000440666.2_Missense_Mutation_p.D95Y|ZNF76_ENST00000339411.5_Missense_Mutation_p.D121Y NM_003427.3 NP_003418.2 P36508 ZNF76_HUMAN zinc finger protein 76 121 regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1) 16 GGGCTTGGAGGACCTGGCAGC 0.607000 7 25 0.00198382 0.00204581 1 1 0 ALPK3 57538 broad.mit.edu 37 15 85383174 85383174 + Nonsense_Mutation SNP C C T TCGA-E8-A432-01A-11D-A23M-08 TCGA-E8-A432-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx d434e375-e0a6-4f04-b106-ab3c84590b36 2a2116f3-bd77-4060-91f8-11f3d1af5327 g.chr15:85383174C>T ENST00000258888.5 + 5 1437 c.1270C>T c.(1270-1272)Cag>Tag p.Q424* NM_020778.4 NP_065829.3 Q96L96 ALPK3_HUMAN alpha-kinase 3 424 heart development nucleus ATP binding|protein serine/threonine kinase activity NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 81 BRCA - Breast invasive adenocarcinoma(143;0.0587) CGACCGCTTCCAGCGAAAGCG 0.692000 6 25 0 0 1 0 0 ZNF761 388561 broad.mit.edu 37 19 53945837 53945837 + RNA SNP T T C rs17855120 by1000genomes TCGA-E8-A432-01A-11D-A23M-08 TCGA-E8-A432-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx d434e375-e0a6-4f04-b106-ab3c84590b36 2a2116f3-bd77-4060-91f8-11f3d1af5327 g.chr19:53945837T>C ENST00000454407.1 + 0 55 TPM3P9_ENST00000424846.3_RNA Q86XN6 ZN761_HUMAN zinc finger protein 761 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 30 GBM - Glioblastoma multiforme(134;0.00786) GGACCAGACTTTGCTTGACCT 0.512000 4 32 0 0 1 0 0 PDZD2 23037 broad.mit.edu 37 5 31983589 31983589 + Missense_Mutation SNP G G A TCGA-E8-A432-01A-11D-A23M-08 TCGA-E8-A432-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx d434e375-e0a6-4f04-b106-ab3c84590b36 2a2116f3-bd77-4060-91f8-11f3d1af5327 g.chr5:31983589G>A ENST00000438447.1 + 3 1193 c.805G>A c.(805-807)Ggc>Agc p.G269S PDZD2_ENST00000282493.3_Missense_Mutation_p.G269S O15018 PDZD2_HUMAN PDZ domain containing 2 269 cell adhesion cell-cell junction|endoplasmic reticulum|extracellular region|nucleus p.G269S(1) NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 148 GCTAGAAAATGGCCCAGATTC 0.557000 21 56 0 0 1 0 0 MTERF 7978 broad.mit.edu 37 7 91503312 91503312 + Missense_Mutation SNP T T C TCGA-E8-A432-01A-11D-A23M-08 TCGA-E8-A432-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx d434e375-e0a6-4f04-b106-ab3c84590b36 2a2116f3-bd77-4060-91f8-11f3d1af5327 g.chr7:91503312T>C ENST00000419292.1 - 2 812 c.736A>G c.(736-738)Aac>Gac p.N246D CTB-104F4.2_ENST00000454222.1_RNA|MTERF_ENST00000351870.3_Missense_Mutation_p.N266D|MTERF_ENST00000406735.2_Missense_Mutation_p.N246D Q99551 MTERF_HUMAN mitochondrial transcription termination factor 266 DNA geometric change|regulation of transcription, DNA-dependent|termination of mitochondrial transcription mitochondrial nucleoid double-stranded DNA binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|skin(1) 14 all_cancers(62;2.28e-09)|all_epithelial(64;1.07e-07)|Breast(17;0.00371)|all_hematologic(106;0.091)|all_lung(186;0.178)|Lung NSC(181;0.235) STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.0993)|Kidney(17;0.118)|Epithelial(20;0.136)|LUSC - Lung squamous cell carcinoma(200;0.176) TCCTCACTGTTCAAATTGAAA 0.383000 5 39 0 0 1 0 0 PIK3R5 23533 broad.mit.edu 37 17 8790952 8790952 + Missense_Mutation SNP C C A TCGA-E8-A432-01A-11D-A23M-08 TCGA-E8-A432-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx d434e375-e0a6-4f04-b106-ab3c84590b36 2a2116f3-bd77-4060-91f8-11f3d1af5327 g.chr17:8790952C>A ENST00000447110.1 - 11 1789 c.1665G>T c.(1663-1665)caG>caT p.Q555H PIK3R5_ENST00000584803.1_Missense_Mutation_p.Q555H|PIK3R5_ENST00000581552.1_Missense_Mutation_p.Q555H NM_001142633.2|NM_001251851.1|NM_001251852.1|NM_001251853.1|NM_001251855.1 NP_001136105.1|NP_001238780.1|NP_001238781.1|NP_001238782.1|NP_001238784.1 Q8WYR1 PI3R5_HUMAN phosphoinositide-3-kinase, regulatory subunit 5 555 platelet activation cytosol|membrane|nucleus breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1) 34 CGTAGAAGAACTGAAGTTTGA 0.607000 3 11 0.115264 0.115264 1 1 0 ZNF763 284390 broad.mit.edu 37 19 12087920 12087920 + Missense_Mutation SNP C C T TCGA-E8-A432-01A-11D-A23M-08 TCGA-E8-A432-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx d434e375-e0a6-4f04-b106-ab3c84590b36 2a2116f3-bd77-4060-91f8-11f3d1af5327 g.chr19:12087920C>T ENST00000343949.5 + 2 235 c.80C>T c.(79-81)tCg>tTg p.S27L ZNF763_ENST00000538752.1_Missense_Mutation_p.S44L|ZNF763_ENST00000592625.1_Missense_Mutation_p.S24L|ZNF763_ENST00000358987.3_Missense_Mutation_p.S24L|ZNF763_ENST00000591944.1_Missense_Mutation_p.S93L|ZNF763_ENST00000545530.1_Intron|ZNF763_ENST00000590798.1_Missense_Mutation_p.S44L NM_001012753.1 NP_001012771.1 zinc finger protein 763 p.S26L(1) central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9) 15 CTGGATATTTCGCAGAGGAAA 0.493000 45 91 0 0 1 0 0 C1orf53 388722 broad.mit.edu 37 1 197871974 197871974 + Silent SNP G G A TCGA-E8-A432-01A-11D-A23M-08 TCGA-E8-A432-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx d434e375-e0a6-4f04-b106-ab3c84590b36 2a2116f3-bd77-4060-91f8-11f3d1af5327 g.chr1:197871974G>A ENST00000367393.3 + 1 198 c.195G>A c.(193-195)agG>agA p.R65R NM_001024594.2 NP_001019765.1 Q5VUE5 CA053_HUMAN chromosome 1 open reading frame 53 65 endometrium(1)|lung(1) 2 GAGCGGCGAGGCCTTCGGTGA 0.711000 6 9 0 0 1 0 0 TMEM63A 9725 broad.mit.edu 37 1 226034840 226034842 + In_Frame_Del DEL CTG CTG - TCGA-E8-A432-01A-11D-A23M-08 TCGA-E8-A432-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx d434e375-e0a6-4f04-b106-ab3c84590b36 2a2116f3-bd77-4060-91f8-11f3d1af5327 g.chr1:226034840_226034842delCTG ENST00000366835.3 - 24 2593_2595 c.2323_2325delCAG c.(2323-2325)del p.Q775del NM_014698.2 NP_055513.2 O94886 TM63A_HUMAN transmembrane protein 63A 775 integral to membrane|lysosomal membrane nucleotide binding p.Q775delQ(1) breast(2)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 24 Breast(184;0.197) CACCATAGGTCTGCTGCTGCTGC 0.626 9 145 --- --- --- --- SLC35G2 80723 broad.mit.edu 37 3 136574141 136574143 + In_Frame_Del DEL AGA AGA - TCGA-E8-A432-01A-11D-A23M-08 TCGA-E8-A432-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx d434e375-e0a6-4f04-b106-ab3c84590b36 2a2116f3-bd77-4060-91f8-11f3d1af5327 g.chr3:136574141_136574143delAGA ENST00000446465.2 + 2 1467_1469 c.839_841delAGA c.(838-843)gag>g p.EK280del SLC35G2_ENST00000393079.3_In_Frame_Del_p.EK280del|RP11-85F14.5_ENST00000470236.1_RNA|RP11-85F14.5_ENST00000474250.1_RNA|RP11-85F14.5_ENST00000461864.1_RNA NM_025246.2 NP_079522.2 Q8TBE7 TMM22_HUMAN solute carrier family 35, member G2 280 DUF6 2. Golgi apparatus|integral to membrane TCCATCAAGGAGAAGATCAGCAT 0.424 30 118 --- --- --- --- BAI3 577 broad.mit.edu 37 6 69666603 69666603 + Frame_Shift_Del DEL A A - TCGA-E8-A432-01A-11D-A23M-08 TCGA-E8-A432-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx d434e375-e0a6-4f04-b106-ab3c84590b36 2a2116f3-bd77-4060-91f8-11f3d1af5327 g.chr6:69666603delA ENST00000370598.1 + 8 2248 c.1427delA c.(1426-1428)gafs p.E476fs NM_001704.2 NP_001695.1 O60242 BAI3_HUMAN brain-specific angiogenesis inhibitor 3 476 TSP type-1 4. negative regulation of angiogenesis|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 210 all_lung(197;0.212) GGCGGCTGGGAAAGGCGAATA 0.502 23 101 --- --- --- --- KAT5 10524 broad.mit.edu 37 11 65484145 65484145 + Frame_Shift_Del DEL C C - TCGA-E8-A432-01A-11D-A23M-08 TCGA-E8-A432-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx d434e375-e0a6-4f04-b106-ab3c84590b36 2a2116f3-bd77-4060-91f8-11f3d1af5327 g.chr11:65484145delC ENST00000341318.4 + 9 1271 c.1037delC c.(1036-1038)tcfs p.S346fs KAT5_ENST00000530446.1_Frame_Shift_Del_p.S294fs|KAT5_ENST00000534650.1_Frame_Shift_Del_p.S102fs|KAT5_ENST00000377046.3_Frame_Shift_Del_p.S313fs|KAT5_ENST00000352980.4_Frame_Shift_Del_p.S261fs NM_182710.2 NP_874369.1 Q92993 KAT5_HUMAN K(lysine) acetyltransferase 5 313 androgen receptor signaling pathway|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|double-strand break repair|interspecies interaction between organisms|negative regulation of interleukin-2 production|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of growth|transcription, DNA-dependent NuA4 histone acetyltransferase complex|nucleolus|perinuclear region of cytoplasm|Piccolo NuA4 histone acetyltransferase complex androgen receptor binding|histone acetyltransferase activity|metal ion binding|repressing transcription factor binding|transcription coactivator activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9) 21 CAGAGTTATTCCCAGAACCTG 0.493 22 61 --- --- --- --- MAP3K9 4293 broad.mit.edu 37 14 71275774 71275776 + In_Frame_Del DEL CCT CCT - rs3832971 TCGA-E8-A432-01A-11D-A23M-08 TCGA-E8-A432-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx d434e375-e0a6-4f04-b106-ab3c84590b36 2a2116f3-bd77-4060-91f8-11f3d1af5327 g.chr14:71275774_71275776delCCT ENST00000554752.2 - 1 112_114 c.113_115delAGG c.(112-117)gcg>g p.EA38del MAP3K9_ENST00000381250.4_In_Frame_Del_p.EA38del|MAP3K9_ENST00000555993.2_In_Frame_Del_p.EA38del P80192 M3K9_HUMAN mitogen-activated protein kinase kinase kinase 9 38 Ala-rich.|Poly-Glu. activation of JUN kinase activity|protein autophosphorylation ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity p.E38delE(1) breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2) 46 all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08) GCCGCCGCCGcctcctcctcctc 0.773 3 4 --- --- --- --- PIK3R6 146850 broad.mit.edu 37 17 8742936 8742936 + Frame_Shift_Del DEL T T - TCGA-E8-A432-01A-11D-A23M-08 TCGA-E8-A432-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx d434e375-e0a6-4f04-b106-ab3c84590b36 2a2116f3-bd77-4060-91f8-11f3d1af5327 g.chr17:8742936delT ENST00000311434.9 - 3 331 c.92delA c.(91-93)acfs p.N31fs PIK3R6_ENST00000434064.2_5'UTR NM_001010855.2 NP_001010855.1 Q5UE93 PI3R6_HUMAN phosphoinositide-3-kinase, regulatory subunit 6 31 platelet activation cytosol CTTACCTTGGTTGCTCTGCAG 0.647 2 4 --- --- --- --- GATA5 140628 broad.mit.edu 37 20 61041598 61041598 + Frame_Shift_Del DEL G G - TCGA-E8-A432-01A-11D-A23M-08 TCGA-E8-A432-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx d434e375-e0a6-4f04-b106-ab3c84590b36 2a2116f3-bd77-4060-91f8-11f3d1af5327 g.chr20:61041598delG ENST00000252997.2 - 4 770 c.709delC c.(709-711)gcfs p.R238fs NM_080473.4 NP_536721.1 Q9BWX5 GATA5_HUMAN GATA binding protein 5 238 blood coagulation|intestinal epithelial cell differentiation|positive regulation of transcription from RNA polymerase II promoter nucleoplasm sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding kidney(1)|lung(3)|ovary(1)|stomach(1) 6 Breast(26;2.05e-08) BRCA - Breast invasive adenocarcinoma(19;3.08e-06) CCGGCGCGGCGGGACGAGGAC 0.721 2 4 --- --- --- --- RP11-1007I13.4 0 broad.mit.edu 37 X 151296337 151296337 + RNA DEL A A - rs5904334 TCGA-E8-A432-01A-11D-A23M-08 TCGA-E8-A432-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx d434e375-e0a6-4f04-b106-ab3c84590b36 2a2116f3-bd77-4060-91f8-11f3d1af5327 g.chrX:151296337delA ENST00000509345.2 - 0 172 GGAATTCCAGAAAAAAAAAAA 0.448 3 3 --- --- --- ---