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 GNA15 2769 broad.mit.edu 37 19 3151776 3151776 + Missense_Mutation SNP G G A TCGA-EM-A3O8-01A-11D-A21Z-08 TCGA-EM-A3O8-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 273fa499-61f1-44ac-b537-3f6d7fbba63a dfb338fd-ead0-4819-9fb3-5e701e5cf53d g.chr19:3151776G>A ENST00000262958.3 + 4 815 c.557G>A c.(556-558)cGc>cAc p.R186H AC005264.2_ENST00000587587.1_RNA NM_002068.2 NP_002059.2 P30679 GNA15_HUMAN guanine nucleotide binding protein (G protein), alpha 15 (Gq class) 186 activation of phospholipase C activity by dopamine receptor signaling pathway|activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation heterotrimeric G-protein complex G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity p.R186H(1) large_intestine(5)|lung(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;7.04e-05)|OV - Ovarian serous cystadenocarcinoma(105;5.08e-113)|Epithelial(107;6.19e-111)|all cancers(105;6.19e-103)|BRCA - Breast invasive adenocarcinoma(158;0.00145)|STAD - Stomach adenocarcinoma(1328;0.184) CTCCGCAGCCGCATGCCCACC 0.647000 4 166 0 0 1 0 0 ATAD2 29028 broad.mit.edu 37 8 124361593 124361593 + Missense_Mutation SNP T T C TCGA-EM-A3O8-01A-11D-A21Z-08 TCGA-EM-A3O8-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 273fa499-61f1-44ac-b537-3f6d7fbba63a dfb338fd-ead0-4819-9fb3-5e701e5cf53d g.chr8:124361593T>C ENST00000287394.5 - 14 1845 c.1738A>G c.(1738-1740)Ata>Gta p.I580V ATAD2_ENST00000521903.1_5'UTR NM_014109.3 NP_054828.2 Q6PL18 ATAD2_HUMAN ATPase family, AAA domain containing 2 580 regulation of transcription, DNA-dependent|transcription, DNA-dependent mitochondrion|nucleus ATP binding|ATPase activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2) 48 Lung NSC(37;1.25e-09)|Ovarian(258;0.00838) STAD - Stomach adenocarcinoma(47;0.00288) GCAGGATCTATAGAATCTAGC 0.408000 4 156 0 0 1 0 0 TSSC2 0 broad.mit.edu 37 11 3427845 3427845 + RNA SNP C C T TCGA-EM-A3O8-01A-11D-A21Z-08 TCGA-EM-A3O8-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 273fa499-61f1-44ac-b537-3f6d7fbba63a dfb338fd-ead0-4819-9fb3-5e701e5cf53d g.chr11:3427845C>T ENST00000529482.1 + 0 962 CTTCAAGTGGCAGGAGCAGAA 0.587000 4 72 0 0 1 0 0 SNHG14 0 broad.mit.edu 37 15 25425564 25425564 + RNA SNP C C T TCGA-EM-A3O8-01A-11D-A21Z-08 TCGA-EM-A3O8-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 273fa499-61f1-44ac-b537-3f6d7fbba63a dfb338fd-ead0-4819-9fb3-5e701e5cf53d g.chr15:25425564C>T ENST00000441592.2 + 0 552 TTCCTGGCATCCTGGTCTCCT 0.597000 38 60 0 0 1 0 0 MAGEE1 57692 broad.mit.edu 37 X 75648746 75648746 + Silent SNP G G A TCGA-EM-A3O8-01A-11D-A21Z-08 TCGA-EM-A3O8-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 273fa499-61f1-44ac-b537-3f6d7fbba63a dfb338fd-ead0-4819-9fb3-5e701e5cf53d g.chrX:75648746G>A ENST00000361470.2 + 1 701 c.423G>A c.(421-423)ccG>ccA p.P141P NM_020932.2 NP_065983.1 Q9HCI5 MAGE1_HUMAN melanoma antigen family E, 1 141 Pro-rich. dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1) 51 CCTCCAGGCCGCCCACTTCCT 0.677000 3 50 0 0 1 0 0 NCOR1P1 0 broad.mit.edu 37 20 26084295 26084295 + RNA SNP C C T rs76611503 by1000genomes TCGA-EM-A3O8-01A-11D-A21Z-08 TCGA-EM-A3O8-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 273fa499-61f1-44ac-b537-3f6d7fbba63a dfb338fd-ead0-4819-9fb3-5e701e5cf53d g.chr20:26084295C>T ENST00000478176.1 - 0 162 NR_003678.1 p.G41R(1) TGTTTGCCTCCAAATGCTGGA 0.373000 3 66 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453134 140453134 + Missense_Mutation SNP T T C rs121913377 TCGA-EM-A3O8-01A-11D-A21Z-08 TCGA-EM-A3O8-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 273fa499-61f1-44ac-b537-3f6d7fbba63a dfb338fd-ead0-4819-9fb3-5e701e5cf53d g.chr7:140453134T>C ENST00000288602.6 - 15 1861 c.1801A>G c.(1801-1803)Aaa>Gaa p.K601E NM_004333.4 NP_004324.2 P15056 BRAF_HUMAN v-raf murine sarcoma viral oncogene homolog B 601 Protein kinase. K -> E (in colorectal cancer).|K -> Q (in CFC syndrome). 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.K601E(40)|p.V600_K601>E(12)|p.T599_R603>I(2)|p.K601del(1)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(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) CATCGAGATTTCACTGTAGCT 0.368000 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 43 66 0 0 1 0 0 LRP2BP 55805 broad.mit.edu 37 4 186295505 186295505 + Silent SNP T T C TCGA-EM-A3O8-01A-11D-A21Z-08 TCGA-EM-A3O8-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 273fa499-61f1-44ac-b537-3f6d7fbba63a dfb338fd-ead0-4819-9fb3-5e701e5cf53d g.chr4:186295505T>C ENST00000362004.3 - 4 1258 c.447A>G c.(445-447)aaA>aaG p.K149K LRP2BP_ENST00000328559.7_Silent_p.K147K|RP11-714G18.1_ENST00000514884.1_RNA|LRP2BP_ENST00000510776.1_Silent_p.K121K|LRP2BP_ENST00000505916.1_Silent_p.K147K Q9P2M1 LR2BP_HUMAN LRP2 binding protein 147 cytoplasm protein binding breast(1)|endometrium(2)|large_intestine(6)|lung(3)|prostate(1)|skin(2) 15 all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;0.00109)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749) all cancers(43;2.14e-25)|Epithelial(43;1.55e-22)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-11)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.000132)|STAD - Stomach adenocarcinoma(60;0.000766)|Colorectal(24;0.00116)|LUSC - Lung squamous cell carcinoma(40;0.00904)|COAD - Colon adenocarcinoma(29;0.0101)|READ - Rectum adenocarcinoma(43;0.161) GTTTAACACCTTTTCCTTCAT 0.383000 3 132 0 0 1 0 0 LRRC1 55227 broad.mit.edu 37 6 53769225 53769225 + Missense_Mutation SNP G G T TCGA-EM-A3O8-01A-11D-A21Z-08 TCGA-EM-A3O8-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 273fa499-61f1-44ac-b537-3f6d7fbba63a dfb338fd-ead0-4819-9fb3-5e701e5cf53d g.chr6:53769225G>T ENST00000370888.1 + 10 1232 c.955G>T c.(955-957)Gca>Tca p.A319S NM_018214.4 NP_060684.4 Q9BTT6 LRRC1_HUMAN leucine rich repeat containing 1 319 cytoplasm|membrane cervix(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 20 Lung NSC(77;0.0147) BRCA - Breast invasive adenocarcinoma(397;0.0745) CAACTTGAATGCAGACAGAAA 0.289000 3 82 1 1 1 1 0 ZNF169 169841 broad.mit.edu 37 9 97063304 97063304 + Silent SNP C C T TCGA-EM-A3O8-01A-11D-A21Z-08 TCGA-EM-A3O8-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 273fa499-61f1-44ac-b537-3f6d7fbba63a dfb338fd-ead0-4819-9fb3-5e701e5cf53d g.chr9:97063304C>T ENST00000395395.2 + 5 1554 c.1464C>T c.(1462-1464)tgC>tgT p.C488C ZNF169_ENST00000340911.4_3'UTR NM_194320.2 NP_919301.2 Q14929 ZN169_HUMAN zinc finger protein 169 488 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 24 Acute lymphoblastic leukemia(62;0.136) CTTATCTGTGCCCCAAGTGTG 0.562000 34 45 0 0 1 0 0 ZNF844 284391 broad.mit.edu 37 19 12187275 12187275 + Missense_Mutation SNP G G C TCGA-EM-A3O8-01A-11D-A21Z-08 TCGA-EM-A3O8-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 273fa499-61f1-44ac-b537-3f6d7fbba63a dfb338fd-ead0-4819-9fb3-5e701e5cf53d g.chr19:12187275G>C ENST00000439326.3 + 4 1515 c.1340G>C c.(1339-1341)cGt>cCt p.R447P ZNF844_ENST00000441304.2_3'UTR NM_001136501.1 NP_001129973.1 Q08AG5 ZN844_HUMAN zinc finger protein 844 447 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.R447P(1) NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(1)|prostate(1) 10 GAGAGAAACCGTATGAGTGTA 0.433000 4 94 0 0 1 0 0 RPL32P3 0 broad.mit.edu 37 3 129116000 129116000 + RNA SNP A A G TCGA-EM-A3O8-01A-11D-A21Z-08 TCGA-EM-A3O8-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 273fa499-61f1-44ac-b537-3f6d7fbba63a dfb338fd-ead0-4819-9fb3-5e701e5cf53d g.chr3:129116000A>G ENST00000514355.1 - 0 412 lung(1) 1 GGGAAGAAGTAGCCCCAGGTG 0.542000 4 179 0 0 1 0 0 YTHDC1 91746 broad.mit.edu 37 4 69202908 69202908 + Silent SNP C C T TCGA-EM-A3O8-01A-11D-A21Z-08 TCGA-EM-A3O8-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 273fa499-61f1-44ac-b537-3f6d7fbba63a dfb338fd-ead0-4819-9fb3-5e701e5cf53d g.chr4:69202908C>T ENST00000344157.4 - 4 1055 c.720G>A c.(718-720)gaG>gaA p.E240E YTHDC1_ENST00000579690.1_Silent_p.E240E|YTHDC1_ENST00000355665.3_Silent_p.E240E NM_001031732.2 NP_001026902.1 Q96MU7 YTDC1_HUMAN YTH domain containing 1 240 Glu-rich. NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2) 30 cctcctcctcctcttcctcct 0.478000 3 35 0 0 1 0 0 FOXP4 116113 broad.mit.edu 37 6 41557797 41557797 + Missense_Mutation SNP G G A TCGA-EM-A3O8-01A-11D-A21Z-08 TCGA-EM-A3O8-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 273fa499-61f1-44ac-b537-3f6d7fbba63a dfb338fd-ead0-4819-9fb3-5e701e5cf53d g.chr6:41557797G>A ENST00000373060.1 + 11 1704 c.1246G>A c.(1246-1248)Gca>Aca p.A416T FOXP4_ENST00000307972.4_Missense_Mutation_p.A416T|FOXP4_ENST00000373063.3_Missense_Mutation_p.A403T|FOXP4_ENST00000409208.1_Missense_Mutation_p.A404T|FOXP4_ENST00000373057.3_Missense_Mutation_p.A414T NM_001012426.1|NM_001012427.1 NP_001012426.1|NP_001012427.1 Q8IVH2 FOXP4_HUMAN forkhead box P4 416 embryonic foregut morphogenesis|heart development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development cytoplasm|transcription factor complex chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|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|zinc ion binding p.A403T(2) autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1) 16 Ovarian(28;0.0327)|Colorectal(47;0.196) GACCTCGGCCGCAGCCCCTGT 0.672000 3 49 0 0 1 0 0 GFI1 2672 broad.mit.edu 37 1 92941764 92941764 + Splice_Site SNP C C T TCGA-EM-A3O8-01A-11D-A21Z-08 TCGA-EM-A3O8-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 273fa499-61f1-44ac-b537-3f6d7fbba63a dfb338fd-ead0-4819-9fb3-5e701e5cf53d g.chr1:92941764C>T ENST00000370332.1 - 7 1409 c.1090_splice c.e7-1 p.G364_splice GFI1_ENST00000294702.5_Splice_Site_p.G364_splice|GFI1_ENST00000427103.1_Splice_Site_p.G364_splice NM_001127215.1 NP_001120687.1 Q99684 GFI1_HUMAN growth factor independent 1 transcription repressor 364 negative regulation of calcidiol 1-monooxygenase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription involved in G1/S phase of mitotic cell cycle|transcription, DNA-dependent|viral reproduction nucleus protein binding|transcription regulatory region DNA binding|zinc ion binding autonomic_ganglia(1)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1) 15 all_lung(203;0.00292)|Lung NSC(277;0.0115)|all_neural(321;0.185)|Glioma(108;0.203) OV - Ovarian serous cystadenocarcinoma(397;9.04e-07)|Epithelial(280;1.17e-05)|all cancers(265;5.61e-05)|GBM - Glioblastoma multiforme(16;0.0191) AGGCTTCTCACCTGTGGGGAT 0.582000 4 21 0 0 1 0 0 ZMYM1 79830 broad.mit.edu 37 1 35580761 35580761 + Silent SNP C C A TCGA-EM-A3O8-01A-11D-A21Z-08 TCGA-EM-A3O8-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 273fa499-61f1-44ac-b537-3f6d7fbba63a dfb338fd-ead0-4819-9fb3-5e701e5cf53d g.chr1:35580761C>A ENST00000373330.1 + 11 3504 c.3330C>A c.(3328-3330)gcC>gcA p.A1110A ZMYM1_ENST00000373329.1_3'UTR|ZMYM1_ENST00000359858.4_Silent_p.A1110A Q5SVZ6 ZMYM1_HUMAN zinc finger, MYM-type 1 1110 nucleus nucleic acid binding|protein dimerization activity|zinc ion binding NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(8)|prostate(3)|skin(1)|upper_aerodigestive_tract(2) 31 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) CTGGCCCAGCCCTAATGGCTG 0.383000 3 74 0.115264 0.119875 1 1 0 IDO1 3620 broad.mit.edu 37 8 39775722 39775722 + Missense_Mutation SNP G G A TCGA-EM-A3O8-01A-11D-A21Z-08 TCGA-EM-A3O8-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 273fa499-61f1-44ac-b537-3f6d7fbba63a dfb338fd-ead0-4819-9fb3-5e701e5cf53d g.chr8:39775722G>A ENST00000518237.1 + 3 938 c.299G>A c.(298-300)cGt>cAt p.R100H RP11-44K6.4_ENST00000522970.1_RNA|IDO1_ENST00000522495.1_Missense_Mutation_p.R100H|RP11-44K6.3_ENST00000517623.1_RNA NM_002164.5 NP_002155.1 P14902 I23O1_HUMAN indoleamine 2,3-dioxygenase 1 100 female pregnancy|tryptophan catabolic process cytosol electron carrier activity|heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(2) 12 L-Tryptophan(DB00150) GGAGATGTCCGTAAGGTTTGG 0.393000 4 111 0 0 1 0 0 MOV10 4343 broad.mit.edu 37 1 113234306 113234306 + Nonsense_Mutation SNP G G T TCGA-EM-A3O8-01A-11D-A21Z-08 TCGA-EM-A3O8-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 273fa499-61f1-44ac-b537-3f6d7fbba63a dfb338fd-ead0-4819-9fb3-5e701e5cf53d g.chr1:113234306G>T ENST00000369644.1 + 7 1717 c.688G>T c.(688-690)Gag>Tag p.E230* MOV10_ENST00000369645.1_Nonsense_Mutation_p.E286*|MOV10_ENST00000468624.1_3'UTR|MOV10_ENST00000357443.2_Nonsense_Mutation_p.E286*|MOV10_ENST00000413052.2_Nonsense_Mutation_p.E286* Q9HCE1 MOV10_HUMAN Mov10, Moloney leukemia virus 10, homolog (mouse) 286 mRNA cleavage involved in gene silencing by miRNA|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic mRNA processing body ATP binding|helicase activity|protein binding|RNA binding breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(3) 38 Lung SC(450;0.246) all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114) OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24) CTATGACCTGGAGTTAAGTAT 0.557000 66 79 7.05995e-25 7.64828e-25 1 1 0 GBF1 8729 broad.mit.edu 37 10 104139192 104139192 + Splice_Site SNP G G A TCGA-EM-A3O8-01A-11D-A21Z-08 TCGA-EM-A3O8-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 273fa499-61f1-44ac-b537-3f6d7fbba63a dfb338fd-ead0-4819-9fb3-5e701e5cf53d g.chr10:104139192G>A ENST00000369983.3 + 34 4902 c.e34+1 NM_001199378.1|NM_001199379.1|NM_004193.2 NP_001186307.1|NP_001186308.1|NP_004184.1 Q92538 GBF1_HUMAN golgi brefeldin A resistant guanine nucleotide exchange factor 1 COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER Golgi membrane ARF guanyl-nucleotide exchange factor activity|protein binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 71 Colorectal(252;0.0236) Epithelial(162;5.16e-08)|all cancers(201;1.19e-06) TTACTGCAGGGTAAACCAGGA 0.582000 3 55 0 0 1 0 0 XRCC6 2547 broad.mit.edu 37 22 42052945 42052945 + Missense_Mutation SNP A A G TCGA-EM-A3O8-01A-11D-A21Z-08 TCGA-EM-A3O8-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 273fa499-61f1-44ac-b537-3f6d7fbba63a dfb338fd-ead0-4819-9fb3-5e701e5cf53d g.chr22:42052945A>G ENST00000359308.4 + 9 1985 c.1330A>G c.(1330-1332)Agg>Ggg p.R444G XRCC6_ENST00000405506.1_Missense_Mutation_p.R394G|XRCC6_ENST00000402580.3_Missense_Mutation_p.R403G|XRCC6_ENST00000428575.2_Missense_Mutation_p.R311G|XRCC6_ENST00000360079.3_Missense_Mutation_p.R444G|XRCC6_ENST00000405878.1_Missense_Mutation_p.R444G P12956 XRCC6_HUMAN X-ray repair complementing defective repair in Chinese hamster cells 6 444 Ku. DNA ligation|double-strand break repair via nonhomologous end joining|initiation of viral infection|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|provirus integration|telomere maintenance|transcription, DNA-dependent DNA-dependent protein kinase-DNA ligase 4 complex|Ku70:Ku80 complex|membrane fraction|nuclear telomere cap complex|transcription factor complex 5'-deoxyribose-5-phosphate lyase activity|ATP binding|ATP-dependent DNA helicase activity|double-stranded DNA binding|protein C-terminus binding|transcription regulatory region DNA binding central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 31 TGATGATAAAAGGAAGATGCC 0.418000 Non-homologous end-joining 3 69 0 0 1 0 0 CXCL5 6374 broad.mit.edu 37 4 74864215 74864217 + In_Frame_Del DEL CAG CAG - rs139966143 TCGA-EM-A3O8-01A-11D-A21Z-08 TCGA-EM-A3O8-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 273fa499-61f1-44ac-b537-3f6d7fbba63a dfb338fd-ead0-4819-9fb3-5e701e5cf53d g.chr4:74864215_74864217delCAG ENST00000296027.4 - 1 279_281 c.82_84delCTG c.(82-84)del p.L28del NM_002994.3 NP_002985.1 P42830 CXCL5_HUMAN chemokine (C-X-C motif) ligand 5 28 cell-cell signaling|chemotaxis|immune response|positive regulation of cell proliferation|signal transduction extracellular space chemokine activity endometrium(3)|large_intestine(2)|lung(3)|urinary_tract(1) 9 Breast(15;0.00136) all cancers(17;0.00273)|Lung(101;0.196) CTGGCTGCGTCAGCAGCAGCAGC 0.700 2 4 --- --- --- --- TPTE2 93492 broad.mit.edu 37 13 20041394 20041394 + Frame_Shift_Del DEL A A - TCGA-EM-A3O8-01A-11D-A21Z-08 TCGA-EM-A3O8-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 273fa499-61f1-44ac-b537-3f6d7fbba63a dfb338fd-ead0-4819-9fb3-5e701e5cf53d g.chr13:20041394delA ENST00000400230.2 - 7 527 c.483delT c.(481-483)ttfs p.F161fs TPTE2_ENST00000382977.4_Frame_Shift_Del_p.F161fs|TPTE2_ENST00000382978.1_Intron|TPTE2_ENST00000255310.6_Intron|TPTE2_ENST00000457266.2_Intron|TPTE2_ENST00000382975.4_Intron|TPTE2_ENST00000400103.2_Intron|TPTE2_ENST00000390680.2_Intron Q6XPS3 TPTE2_HUMAN transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 161 endoplasmic reticulum membrane|integral to membrane ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089) ACTTAATGTCAAAAAAAATGT 0.303 7 114 --- --- --- --- IGHV1OR21-1 0 broad.mit.edu 37 21 10862646 10862646 + RNA DEL T T - TCGA-EM-A3O8-01A-11D-A21Z-08 TCGA-EM-A3O8-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 273fa499-61f1-44ac-b537-3f6d7fbba63a dfb338fd-ead0-4819-9fb3-5e701e5cf53d g.chr21:10862646delT ENST00000559480.1 + 0 25 breast(1)|endometrium(1)|kidney(3)|lung(20)|urinary_tract(1) 26 GAGGATCCTGTTTTTGGTGGT 0.512 7 719 --- --- --- --- CRYBB2P1 0 broad.mit.edu 37 22 25855683 25855684 + RNA DEL GT GT - rs61433517 TCGA-EM-A3O8-01A-11D-A21Z-08 TCGA-EM-A3O8-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 273fa499-61f1-44ac-b537-3f6d7fbba63a dfb338fd-ead0-4819-9fb3-5e701e5cf53d g.chr22:25855683_25855684delGT ENST00000354451.2 + 0 366 CTGGCAGCTGgtgtgtgtgtgt 0.525 4 3 --- --- --- ---