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 FBXO47 494188 broad.mit.edu 37 17 37101328 37101328 + Missense_Mutation SNP A A C TCGA-E3-A3E3-01A-11D-A20C-08 TCGA-E3-A3E3-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42777e66-8bee-408a-b462-e72f09904209 0e05f7f5-f01b-479b-9dde-821a7ed463dd g.chr17:37101328A>C ENST00000378079.2 - 7 877 c.678T>G c.(676-678)caT>caG p.H226Q NM_001008777.2 NP_001008777.2 Q5MNV8 FBX47_HUMAN F-box protein 47 226 NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1) 20 GATGTGTCCAATGATCAAGGA 0.388000 28 45 0 0 0.760397 0 0 MT-CO1 4512 broad.mit.edu 37 MT 6180 6180 + Missense_Mutation SNP G G C TCGA-E3-A3E3-01A-11D-A20C-08 TCGA-E3-A3E3-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42777e66-8bee-408a-b462-e72f09904209 0e05f7f5-f01b-479b-9dde-821a7ed463dd g.chrM:6180G>C ENST00000361624.2 + 1 277 c.277G>C c.(277-279)Gcg>Ccg p.93_93insP mitochondrially encoded cytochrome c oxidase I breast(4)|endometrium(25)|kidney(19)|lung(3)|prostate(3) 54 CCCCCGATATGGCGTTTCCCC 0.483000 10 345 0 0 0.500413 0 0 NFATC4 4776 broad.mit.edu 37 14 24845682 24845682 + Missense_Mutation SNP C C G TCGA-E3-A3E3-01A-11D-A20C-08 TCGA-E3-A3E3-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42777e66-8bee-408a-b462-e72f09904209 0e05f7f5-f01b-479b-9dde-821a7ed463dd g.chr14:24845682C>G ENST00000413692.2 + 10 2572 c.2428C>G c.(2428-2430)Cct>Gct p.P810A NFATC4_ENST00000556759.1_Missense_Mutation_p.P282A|NFATC4_ENST00000556279.1_Missense_Mutation_p.P779A|NFATC4_ENST00000556169.1_Missense_Mutation_p.P735A|NFATC4_ENST00000553708.1_Missense_Mutation_p.P747A|NFATC4_ENST00000555802.1_Missense_Mutation_p.P35A|NFATC4_ENST00000553879.1_Missense_Mutation_p.P677A|NFATC4_ENST00000555590.1_Missense_Mutation_p.P760A|NFATC4_ENST00000553469.1_Missense_Mutation_p.P779A|NFATC4_ENST00000557451.1_Missense_Mutation_p.P677A|NFATC4_ENST00000555453.1_Missense_Mutation_p.P735A|NFATC4_ENST00000554050.1_Missense_Mutation_p.P747A|NFATC4_ENST00000554966.1_Missense_Mutation_p.P760A|NFATC4_ENST00000539237.2_Missense_Mutation_p.P779A|NFATC4_ENST00000557767.1_Missense_Mutation_p.P35A|NFATC4_ENST00000554473.1_Missense_Mutation_p.P282A|NFATC4_ENST00000422617.3_Missense_Mutation_p.P735A|NFATC4_ENST00000555393.1_Missense_Mutation_p.P35A|NFATC4_ENST00000554591.1_Missense_Mutation_p.P810A|NFATC4_ENST00000250373.4_Missense_Mutation_p.P747A|NFATC4_ENST00000554661.1_Missense_Mutation_p.P677A|NFATC4_ENST00000554344.1_Missense_Mutation_p.P677A|NFATC4_ENST00000555167.1_Missense_Mutation_p.P282A|NFATC4_ENST00000424781.2_Missense_Mutation_p.P760A NM_001136022.1|NM_001198967.1 NP_001129494.1|NP_001185896.1 Q14934 NFAC4_HUMAN nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4 747 Pro-rich. cell differentiation|inflammatory response|transcription from RNA polymerase II promoter cytoplasm|intermediate filament cytoskeleton|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(7)|liver(4)|lung(12)|ovary(1)|skin(2) 34 GBM - Glioblastoma multiforme(265;0.018) TGGCATGCCCCCTCTGTACCC 0.617000 16 33 0 0 0.624587 0 0 MCM9 254394 broad.mit.edu 37 6 119245206 119245206 + Missense_Mutation SNP T T A TCGA-E3-A3E3-01A-11D-A20C-08 TCGA-E3-A3E3-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42777e66-8bee-408a-b462-e72f09904209 0e05f7f5-f01b-479b-9dde-821a7ed463dd g.chr6:119245206T>A ENST00000316316.6 - 3 677 c.391A>T c.(391-393)Att>Ttt p.I131F MCM9_ENST00000316068.3_Missense_Mutation_p.I131F NM_017696.2 NP_060166.2 Q9NXL9 MCM9_HUMAN minichromosome maintenance complex component 9 131 DNA replication ATP binding|DNA binding|nucleoside-triphosphatase activity cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 all_cancers(87;0.122)|all_epithelial(87;0.179) GBM - Glioblastoma multiforme(226;0.0676)|OV - Ovarian serous cystadenocarcinoma(136;0.194) CTTGTTCGAATCACTGTCCCA 0.448000 6 285 0 0 0.307466 0 0 NBPF10 100132406 broad.mit.edu 37 1 145293269 145293269 + Splice_Site SNP G G A rs61350760 by1000genomes TCGA-E3-A3E3-01A-11D-A20C-08 TCGA-E3-A3E3-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42777e66-8bee-408a-b462-e72f09904209 0e05f7f5-f01b-479b-9dde-821a7ed463dd g.chr1:145293269G>A ENST00000369338.1 + 1 155 c.e1+1 NBPF10_ENST00000369339.2_Intron|RP11-458D21.5_ENST00000468030.1_Splice_Site A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) TTTCACAACAGTAAGTTAAGA 0.423000 5 34 0 0 0.217242 0 0 SH2D6 284948 broad.mit.edu 37 2 85663670 85663670 + Missense_Mutation SNP G G C TCGA-E3-A3E3-01A-11D-A20C-08 TCGA-E3-A3E3-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42777e66-8bee-408a-b462-e72f09904209 0e05f7f5-f01b-479b-9dde-821a7ed463dd g.chr2:85663670G>C ENST00000389938.2 + 20 1711 c.397G>C c.(397-399)Gaa>Caa p.E133Q SH2D6_ENST00000481426.2_3'UTR|SH2D6_ENST00000340326.2_Missense_Mutation_p.E165Q Q7Z4S9 SH2D6_HUMAN SH2 domain containing 6 165 SH2. central_nervous_system(1)|lung(2) 3 CGGCAGCCGGGAACTCACCTG 0.647000 14 61 0 0 0.539581 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-E3-A3E3-01A-11D-A20C-08 TCGA-E3-A3E3-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42777e66-8bee-408a-b462-e72f09904209 0e05f7f5-f01b-479b-9dde-821a7ed463dd g.chr7:140453136A>T ENST00000288602.6 - 15 1859 c.1799T>A c.(1798-1800)gTg>gAg p.V600E NM_004333.4 NP_004324.2 P15056 BRAF_HUMAN v-raf murine sarcoma viral oncogene homolog B 600 Protein kinase. V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis). activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1) SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2) NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3) 27380 Melanoma(164;0.00956) Sorafenib(DB00398) TCGAGATTTCACTGTAGCTAG 0.368000 V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN) 61 """Mis, T, O""" """AKAP9, KIAA1549""" """melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma""" Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 24 40 0 0 0.729181 0 0 COL5A3 50509 broad.mit.edu 37 19 10114384 10114384 + Missense_Mutation SNP G G C TCGA-E3-A3E3-01A-11D-A20C-08 TCGA-E3-A3E3-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42777e66-8bee-408a-b462-e72f09904209 0e05f7f5-f01b-479b-9dde-821a7ed463dd g.chr19:10114384G>C ENST00000264828.3 - 6 791 c.706C>G c.(706-708)Cag>Gag p.Q236E NM_015719.3 NP_056534.2 P25940 CO5A3_HUMAN collagen, type V, alpha 3 236 Nonhelical region. collagen fibril organization|skin development collagen type V collagen binding|extracellular matrix structural constituent NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 116 Epithelial(33;7.11e-05) GGTTCACCCTGGGGAGCCTGG 0.607000 4 42 0 0 0.217242 0 0 STXBP5L 9515 broad.mit.edu 37 3 120941872 120941872 + Missense_Mutation SNP G G C TCGA-E3-A3E3-01A-11D-A20C-08 TCGA-E3-A3E3-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42777e66-8bee-408a-b462-e72f09904209 0e05f7f5-f01b-479b-9dde-821a7ed463dd g.chr3:120941872G>C ENST00000273666.6 + 11 1250 c.979G>C c.(979-981)Ggt>Cgt p.G327R STXBP5L_ENST00000492541.1_Missense_Mutation_p.G327R|STXBP5L_ENST00000497029.1_Missense_Mutation_p.G327R|STXBP5L_ENST00000472879.1_Missense_Mutation_p.G327R|STXBP5L_ENST00000471454.1_Missense_Mutation_p.G327R NM_014980.2 NP_055795.1 Q9Y2K9 STB5L_HUMAN syntaxin binding protein 5-like 327 exocytosis|protein transport cytoplasm|integral to membrane|plasma membrane NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 68 GBM - Glioblastoma multiforme(114;0.0694) AATATTCTCTGGTGGGCTGTC 0.363000 7 84 0 0 0.361761 0 0 AQP12B 653437 broad.mit.edu 37 2 241621918 241621918 + Silent SNP G G A TCGA-E3-A3E3-01A-11D-A20C-08 TCGA-E3-A3E3-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42777e66-8bee-408a-b462-e72f09904209 0e05f7f5-f01b-479b-9dde-821a7ed463dd g.chr2:241621918G>A ENST00000407834.3 - 1 399 c.337C>T c.(337-339)Ctg>Ttg p.L113L NM_001102467.1 NP_001095937.1 A6NM10 AQ12B_HUMAN aquaporin 12B 101 integral to membrane transporter activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|lung(8)|ovary(1) 13 all_epithelial(40;1.71e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;2.2e-31)|all cancers(36;1.08e-28)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.52e-06)|Lung(119;0.00163)|LUSC - Lung squamous cell carcinoma(224;0.008)|Colorectal(34;0.0124)|COAD - Colon adenocarcinoma(134;0.0757) GCCAGCTTCAGCAGCGTGCCA 0.697000 4 39 0 0 0.150653 0 0 MT-CYB 4519 broad.mit.edu 37 MT 15170 15170 + Missense_Mutation SNP G G A TCGA-E3-A3E3-01A-11D-A20C-08 TCGA-E3-A3E3-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42777e66-8bee-408a-b462-e72f09904209 0e05f7f5-f01b-479b-9dde-821a7ed463dd g.chrM:15170G>A ENST00000361789.2 + 1 424 c.424G>A c.(424-426)Ggg>Agg p.142_142insR mitochondrially encoded cytochrome b breast(6)|endometrium(25)|kidney(33)|prostate(1) 65 TATCATTCTGAGGGGCCACAG 0.473000 OREG0007583 type=REGULATORY REGION|TFbs=ESR1|Dataset=Estrogen Receptor Alpha Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS) 108 654 0 0 0.870114 0 0 CSMD2 114784 broad.mit.edu 37 1 34037304 34037304 + Silent SNP A A G TCGA-E3-A3E3-01A-11D-A20C-08 TCGA-E3-A3E3-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42777e66-8bee-408a-b462-e72f09904209 0e05f7f5-f01b-479b-9dde-821a7ed463dd g.chr1:34037304A>G ENST00000373381.4 - 51 7961 c.7785T>C c.(7783-7785)agT>agC p.S2595S NM_052896.3 NP_443128.2 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 2597 Sushi 16. integral to membrane|plasma membrane protein binding NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1) 246 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) CGCTGATGCTACTGACATCAG 0.473000 18 45 0 0 0.624587 0 0 KDM6A 7403 broad.mit.edu 37 X 44929202 44929202 + Missense_Mutation SNP A A G TCGA-E3-A3E3-01A-11D-A20C-08 TCGA-E3-A3E3-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42777e66-8bee-408a-b462-e72f09904209 0e05f7f5-f01b-479b-9dde-821a7ed463dd g.chrX:44929202A>G ENST00000377967.4 + 17 2343 c.2302A>G c.(2302-2304)Aag>Gag p.K768E KDM6A_ENST00000382899.4_Missense_Mutation_p.K775E|KDM6A_ENST00000543216.1_Missense_Mutation_p.K689E|KDM6A_ENST00000536777.1_Missense_Mutation_p.K723E NM_021140.2 NP_066963.2 O15550 KDM6A_HUMAN lysine (K)-specific demethylase 6A 768 histone H3-K4 methylation metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen p.0?(6) NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29) 170 TGGAGATTCTAAGTCACCAGG 0.473000 """D, N, F, S""" """renal, oesophageal SCC, MM""" 26 21 0 0 0.750413 0 0 CCDC15 80071 broad.mit.edu 37 11 124857495 124857495 + Missense_Mutation SNP A A C rs113451248 TCGA-E3-A3E3-01A-11D-A20C-08 TCGA-E3-A3E3-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42777e66-8bee-408a-b462-e72f09904209 0e05f7f5-f01b-479b-9dde-821a7ed463dd g.chr11:124857495A>C ENST00000529051.1 + 8 1632 c.1373A>C c.(1372-1374)cAc>cCc p.H458P CCDC15_ENST00000344762.5_Missense_Mutation_p.H458P Q0P6D6 CCD15_HUMAN coiled-coil domain containing 15 458 centrosome central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(1) 23 all_hematologic(175;0.215) Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.68e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0413) CATGTTCTCCACAAAGACCAA 0.418000 3 54 0 0 0.115264 0 0 PHKA2 5256 broad.mit.edu 37 X 18969292 18969292 + Missense_Mutation SNP G G T TCGA-E3-A3E3-01A-11D-A20C-08 TCGA-E3-A3E3-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42777e66-8bee-408a-b462-e72f09904209 0e05f7f5-f01b-479b-9dde-821a7ed463dd g.chrX:18969292G>T ENST00000379942.4 - 4 1049 c.384C>A c.(382-384)gaC>gaA p.D128E NM_000292.2 NP_000283.1 P46019 KPB2_HUMAN phosphorylase kinase, alpha 2 (liver) 128 glucose metabolic process|glycogen catabolic process cytosol|phosphorylase kinase complex|plasma membrane calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 61 Hepatocellular(33;0.183) GGCCCCACTGGTCGTCGCCCA 0.607000 5 83 0.00116845 0.00129827 0.217242 1 0 RP11-262H14.1 0 broad.mit.edu 37 9 66457980 66457980 + RNA SNP A A G TCGA-E3-A3E3-01A-11D-A20C-08 TCGA-E3-A3E3-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42777e66-8bee-408a-b462-e72f09904209 0e05f7f5-f01b-479b-9dde-821a7ed463dd g.chr9:66457980A>G ENST00000424345.1 + 0 67 GCGAGTCGGAAGAGGTGGGAT 0.726000 3 10 0 0 0.184627 0 0 OVCH2 341277 broad.mit.edu 37 11 7716913 7716913 + RNA SNP T T A TCGA-E3-A3E3-01A-11D-A20C-08 TCGA-E3-A3E3-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42777e66-8bee-408a-b462-e72f09904209 0e05f7f5-f01b-479b-9dde-821a7ed463dd g.chr11:7716913T>A ENST00000454689.1 - 0 1171 OVCH2_ENST00000534193.1_RNA NM_198185.3 NP_937828.3 ovochymase 2 (gene/pseudogene) cervix(1)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(2) 15 Epithelial(150;7.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.197) TAAGAATGGATGAggccgggc 0.517000 3 5 0 0 0.115264 0 0 MT-ND6 4541 broad.mit.edu 37 MT 14249 14249 + Missense_Mutation SNP G G A TCGA-E3-A3E3-01A-11D-A20C-08 TCGA-E3-A3E3-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42777e66-8bee-408a-b462-e72f09904209 0e05f7f5-f01b-479b-9dde-821a7ed463dd g.chrM:14249G>A ENST00000361681.2 - 1 424 c.425C>T c.(424-426)gCg>gTg p.A142V mitochondrially encoded NADH dehydrogenase 6 breast(1)|endometrium(10)|kidney(17)|urinary_tract(1) 29 ACAAAGCCCCCGCACCAATAG 0.428000 19 457 0 0 0.681144 0 0 MYH6 4624 broad.mit.edu 37 14 23866789 23866789 + Missense_Mutation SNP T T C TCGA-E3-A3E3-01A-11D-A20C-08 TCGA-E3-A3E3-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42777e66-8bee-408a-b462-e72f09904209 0e05f7f5-f01b-479b-9dde-821a7ed463dd g.chr14:23866789T>C ENST00000405093.3 - 16 1995 c.1925A>G c.(1924-1926)aAg>aGg p.K642R MYH6_ENST00000356287.3_Missense_Mutation_p.K642R NM_002471.3 NP_002462.2 P13533 MYH6_HUMAN myosin, heavy chain 6, cardiac muscle, alpha 642 Myosin head-like. adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 119 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441) GGATGAGCCCTTTTTCTTGCC 0.557000 3 44 0 0 0.150653 0 0 FOXR2 139628 broad.mit.edu 37 X 55650462 55650462 + Silent SNP C C T TCGA-E3-A3E3-01A-11D-A20C-08 TCGA-E3-A3E3-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42777e66-8bee-408a-b462-e72f09904209 0e05f7f5-f01b-479b-9dde-821a7ed463dd g.chrX:55650462C>T ENST00000339140.3 + 1 630 c.318C>T c.(316-318)aaC>aaT p.N106N NM_198451.3 NP_940853.1 Q6PJQ5 FOXR2_HUMAN forkhead box R2 106 embryo development|organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(8)|prostate(1)|skin(1)|urinary_tract(1) 19 ATCTGACAAACATTTCTCCTT 0.542000 9 13 0 0 0.307466 0 0 MT-RNR2 0 broad.mit.edu 37 MT 3132 3132 + RNA SNP G G A TCGA-E3-A3E3-01A-11D-A20C-08 TCGA-E3-A3E3-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42777e66-8bee-408a-b462-e72f09904209 0e05f7f5-f01b-479b-9dde-821a7ed463dd g.chrM:3132G>A ENST00000387347.2 + 0 1462 NR_039705.1 CTGTACGAAAGGACAAGAGAA 0.438000 349 75 0 0 0.870114 0 0 ZNF860 344787 broad.mit.edu 37 3 32032046 32032046 + Missense_Mutation SNP G G A rs143925165 by1000genomes TCGA-E3-A3E3-01A-11D-A20C-08 TCGA-E3-A3E3-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42777e66-8bee-408a-b462-e72f09904209 0e05f7f5-f01b-479b-9dde-821a7ed463dd g.chr3:32032046G>A ENST00000360311.4 + 2 2024 c.1475G>A c.(1474-1476)cGt>cAt p.R492H NM_001137674.2 NP_001131146.2 A6NHJ4 ZN860_HUMAN zinc finger protein 860 492 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|lung(4)|ovary(1) 8 AAGACCTTCCGTCACAATTCA 0.403000 4 103 0 0 0.248553 0 0 RP5-1180C18.1 0 broad.mit.edu 37 1 37772032 37772033 + RNA DEL GA GA - TCGA-E3-A3E3-01A-11D-A20C-08 TCGA-E3-A3E3-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42777e66-8bee-408a-b462-e72f09904209 0e05f7f5-f01b-479b-9dde-821a7ed463dd g.chr1:37772032_37772033delGA ENST00000413901.1 - 0 111 GGCCCAGAGTGAGAGAGAGGAG 0.525 2 4 --- --- --- --- NFXL1 152518 broad.mit.edu 37 4 47916171 47916171 + Frame_Shift_Del DEL C C - TCGA-E3-A3E3-01A-11D-A20C-08 TCGA-E3-A3E3-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42777e66-8bee-408a-b462-e72f09904209 0e05f7f5-f01b-479b-9dde-821a7ed463dd g.chr4:47916171delC ENST00000507489.1 - 2 226 c.50delG c.(49-51)gafs p.G17fs NFXL1_ENST00000329043.3_Frame_Shift_Del_p.G17fs|NFXL1_ENST00000381538.3_Frame_Shift_Del_p.G17fs NM_001278624.1 NP_001265553.1 Q6ZNB6 NFXL1_HUMAN nuclear transcription factor, X-box binding-like 1 17 integral to membrane|nucleus sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(4) 27 AGTGGCCCGTCCCCGGGATCG 0.647 2 4 --- --- --- --- SP4 6671 broad.mit.edu 37 7 21468304 21468306 + In_Frame_Del DEL AGG AGG - TCGA-E3-A3E3-01A-11D-A20C-08 TCGA-E3-A3E3-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42777e66-8bee-408a-b462-e72f09904209 0e05f7f5-f01b-479b-9dde-821a7ed463dd g.chr7:21468304_21468306delAGG ENST00000222584.3 + 2 235_237 c.17_19delAGG c.(16-21)aag>a p.KE6del NM_003112.3 NP_003103.2 Q02446 SP4_HUMAN Sp4 transcription factor 6 regulation of transcription from RNA polymerase II promoter nucleus DNA binding|transcription coactivator activity|zinc ion binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 35 GATCAGAAGAAGGAGGAGGAGGA 0.517 2 4 --- --- --- --- DLX6 1750 broad.mit.edu 37 7 96635421 96635423 + In_Frame_Del DEL GCC GCC - TCGA-E3-A3E3-01A-11D-A20C-08 TCGA-E3-A3E3-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42777e66-8bee-408a-b462-e72f09904209 0e05f7f5-f01b-479b-9dde-821a7ed463dd g.chr7:96635421_96635423delGCC ENST00000518156.2 + 1 562_564 c.132_134delGCC c.(130-135)cag>ca p.QP44del DLX6-AS1_ENST00000458352.2_RNA|DLX6_ENST00000007660.5_Intron|DLX6-AS1_ENST00000430404.2_RNA|DLX6-AS1_ENST00000437331.2_RNA|DLX6-AS1_ENST00000605417.1_RNA|DLX6-AS1_ENST00000452769.2_RNA|DLX6-AS1_ENST00000437541.1_RNA|DLX6-AS1_ENST00000430027.2_RNA P56179 DLX6_HUMAN distal-less homeobox 6 0 nervous system development|skeletal system development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(2)|lung(4)|ovary(2)|urinary_tract(1) 12 all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858) aacagcaacagccgccgccgccg 0.704 3 4 --- --- --- --- RP11-897M7.1 0 broad.mit.edu 37 12 131962224 131962225 + RNA INS - - ATA rs67902503 TCGA-E3-A3E3-01A-11D-A20C-08 TCGA-E3-A3E3-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42777e66-8bee-408a-b462-e72f09904209 0e05f7f5-f01b-479b-9dde-821a7ed463dd g.chr12:131962224_131962225insATA ENST00000535133.1 - 0 195 tggtaatggtggtgatgatggt 0.396 6 9 --- --- --- --- RP11-519G16.3 0 broad.mit.edu 37 15 45756158 45756158 + RNA DEL T T - rs143709087 TCGA-E3-A3E3-01A-11D-A20C-08 TCGA-E3-A3E3-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42777e66-8bee-408a-b462-e72f09904209 0e05f7f5-f01b-479b-9dde-821a7ed463dd g.chr15:45756158delT ENST00000560077.1 + 0 41 RP11-519G16.3_ENST00000558536.1_RNA|RP11-519G16.3_ENST00000560647.1_RNA accaccaccatcaccatcacc 0.567 4 6 --- --- --- --- CHD2 1106 broad.mit.edu 37 15 93552546 93552547 + Frame_Shift_Ins INS - - G TCGA-E3-A3E3-01A-11D-A20C-08 TCGA-E3-A3E3-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42777e66-8bee-408a-b462-e72f09904209 0e05f7f5-f01b-479b-9dde-821a7ed463dd g.chr15:93552546_93552547insG ENST00000394196.4 + 35 5653_5654 c.4585_4586insG c.(4585-4587)gagfs p.E1529fs CHD2_ENST00000557381.1_Frame_Shift_Ins_p.E1529fs NM_001271.3 NP_001262.3 O14647 CHD2_HUMAN chromodomain helicase DNA binding protein 2 1529 regulation of transcription from RNA polymerase II promoter nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2) 47 Lung NSC(78;0.00976)|all_lung(78;0.016) BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814) CATCAAACTCTGGAGGAGGTAA 0.495 19 40 --- --- --- --- CAPN15 6650 broad.mit.edu 37 16 597239 597241 + In_Frame_Del DEL AGG AGG - TCGA-E3-A3E3-01A-11D-A20C-08 TCGA-E3-A3E3-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42777e66-8bee-408a-b462-e72f09904209 0e05f7f5-f01b-479b-9dde-821a7ed463dd g.chr16:597239_597241delAGG ENST00000219611.2 + 4 764_766 c.401_403delAGG c.(400-405)cag>c p.QE134del LA16c-366D1.3_ENST00000565879.1_RNA NM_005632.2 NP_005623.1 calpain 15 aaggaggagcaggaggaggagga 0.714 2 4 --- --- --- --- RP13-329D4.3 0 broad.mit.edu 37 20 26113543 26113543 + RNA DEL A A - TCGA-E3-A3E3-01A-11D-A20C-08 TCGA-E3-A3E3-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42777e66-8bee-408a-b462-e72f09904209 0e05f7f5-f01b-479b-9dde-821a7ed463dd g.chr20:26113543delA ENST00000416563.1 - 0 250 TCTTTGCCTTAACAACATTAT 0.363 2 4 --- --- --- --- PANX2 56666 broad.mit.edu 37 22 50616616 50616617 + Frame_Shift_Ins INS - - C TCGA-E3-A3E3-01A-11D-A20C-08 TCGA-E3-A3E3-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42777e66-8bee-408a-b462-e72f09904209 0e05f7f5-f01b-479b-9dde-821a7ed463dd g.chr22:50616616_50616617insC ENST00000395842.2 + 2 1475_1476 c.1475_1476insC c.(1474-1476)gccfs p.A492fs PANX2_ENST00000159647.5_Frame_Shift_Ins_p.A492fs NM_052839.3 NP_443071.2 Q96RD6 PANX2_HUMAN pannexin 2 492 protein hexamerization|synaptic transmission gap junction|integral to membrane gap junction hemi-channel activity|ion channel activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(1)|skin(1) 7 all_cancers(38;1.14e-10)|all_epithelial(38;2.12e-09)|all_lung(38;7.01e-05)|Breast(42;0.000523)|Lung NSC(38;0.0018)|Ovarian(80;0.0365)|Lung SC(80;0.113) LUAD - Lung adenocarcinoma(64;0.105) GGCGACCCGGGccccggccccg 0.748 4 3 --- --- --- --- RP11-308D16.4 0 broad.mit.edu 37 X 135999124 135999129 + RNA DEL TCTTCT TCTTCT - TCGA-E3-A3E3-01A-11D-A20C-08 TCGA-E3-A3E3-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42777e66-8bee-408a-b462-e72f09904209 0e05f7f5-f01b-479b-9dde-821a7ed463dd g.chrX:135999124_135999129delTCTTCT ENST00000424306.1 + 0 386 ctcctcttcctcttcttcctcttcct 0.505 4 4 --- --- --- ---