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 KIAA1211 57482 broad.mit.edu 37 4 57182522 57182522 + Missense_Mutation SNP G G A TCGA-DJ-A3UK-01A-11D-A22D-08 TCGA-DJ-A3UK-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx b796fc76-16ca-4659-a0a1-8b6f58ae6493 e5f80f02-e798-4861-bd03-6933647e5d7d g.chr4:57182522G>A uc003hbk.2 + 7 3245 c.2854G>A c.(2854-2856)Gca>Aca p.A952T KIAA1211_uc010iha.2_Missense_Mutation_p.A945T|KIAA1211_uc011bzz.1_Missense_Mutation_p.A862T|KIAA1211_uc003hbm.1_Missense_Mutation_p.A838T NM_020722 NP_065773 Q6ZU35 K1211_HUMAN Homo sapiens KIAA1211 (KIAA1211), mRNA. 952 Pro-rich. endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1) 65 Glioma(25;0.08)|all_neural(26;0.101) CGACAAGGCAGCAAACAAAAT 0.632000 3 63 0 0 1 0 0 BC019672 0 broad.mit.edu 37 17 20320065 20320065 + RNA SNP G G A TCGA-DJ-A3UK-01A-11D-A22D-08 TCGA-DJ-A3UK-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx b796fc76-16ca-4659-a0a1-8b6f58ae6493 e5f80f02-e798-4861-bd03-6933647e5d7d g.chr17:20320065G>A uc002gwx.3 + 0 c.644G>A Homo sapiens, clone IMAGE:4938453, mRNA. GGAACTGGGAGGACTGCACTA 0.547000 3 46 0 0 1 0 0 TBC1D16 125058 broad.mit.edu 37 17 77926572 77926572 + Silent SNP G G A TCGA-DJ-A3UK-01A-11D-A22D-08 TCGA-DJ-A3UK-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx b796fc76-16ca-4659-a0a1-8b6f58ae6493 e5f80f02-e798-4861-bd03-6933647e5d7d g.chr17:77926572G>A uc002jxj.3 - 3 941 c.825C>T c.(823-825)aaC>aaT p.N275N TBC1D16_uc002jxh.3_5'Flank|TBC1D16_uc002jxi.3_5'Flank|TBC1D16_uc002jxk.1_5'Flank NM_019020 NP_061893 Q8TBP0 TBC16_HUMAN Homo sapiens TBC1 domain family, member 16 (TBC1D16), mRNA. 275 intracellular Rab GTPase activator activity NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(3) 28 all_neural(118;0.167) OV - Ovarian serous cystadenocarcinoma(97;0.00739)|BRCA - Breast invasive adenocarcinoma(99;0.0819) GCAGGAGGCCGTTGCTGTCCG 0.682000 4 102 0 0 1 0 0 CHRNE 1145 broad.mit.edu 37 17 4805305 4805305 + Missense_Mutation SNP G G A rs121909512 TCGA-DJ-A3UK-01A-11D-A22D-08 TCGA-DJ-A3UK-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx b796fc76-16ca-4659-a0a1-8b6f58ae6493 e5f80f02-e798-4861-bd03-6933647e5d7d g.chr17:4805305G>A uc002fzk.1 - 4 433 c.422C>T c.(421-423)cCg>cTg p.P141L C17orf107_uc002fzl.3_3'UTR NM_000080 NP_000071 Q04844 ACHE_HUMAN Homo sapiens cholinergic receptor, nicotinic, epsilon (CHRNE), mRNA. 141 P -> L (in FCCMS; marked decrease in rate of AChR channel opening; reduction in frequency of open channel state and resistance to desensitization by ACh). muscle contraction|synaptic transmission, cholinergic cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(3)|prostate(1) 12 GTAGATGGCCGGAGGCAGCCA 0.617000 3 102 0 0 1 0 0 ATP6V1A 523 broad.mit.edu 37 3 113505224 113505224 + Missense_Mutation SNP T T C TCGA-DJ-A3UK-01A-11D-A22D-08 TCGA-DJ-A3UK-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx b796fc76-16ca-4659-a0a1-8b6f58ae6493 e5f80f02-e798-4861-bd03-6933647e5d7d g.chr3:113505224T>C uc003eao.3 + 5 818 c.710T>C c.(709-711)cTt>cCt p.L237P ATP6V1A_uc011bik.2_Missense_Mutation_p.L204P NM_001690 NP_001681 P38606 VATA_HUMAN Homo sapiens ATPase, H+ transporting, lysosomal 70kDa, V1 subunit A (ATP6V1A), mRNA. 237 ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport cytosol|integral to plasma membrane|proton-transporting V-type ATPase, V1 domain ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 CTTGATGCCCTTTTTCCGTAA 0.423000 4 255 0 0 1 0 0 SCPEP1 59342 broad.mit.edu 37 17 55058499 55058499 + Missense_Mutation SNP G G A TCGA-DJ-A3UK-01A-11D-A22D-08 TCGA-DJ-A3UK-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx b796fc76-16ca-4659-a0a1-8b6f58ae6493 e5f80f02-e798-4861-bd03-6933647e5d7d g.chr17:55058499G>A uc002iuv.4 + 1 186 c.133G>A c.(133-135)Gtc>Atc p.V45I SCPEP1_uc010dcl.3_Non-coding_Transcript|SCPEP1_uc010wnk.2_5'UTR NM_021626 NP_067639 Q9HB40 RISC_HUMAN Homo sapiens serine carboxypeptidase 1 (SCPEP1), mRNA. 45 proteolysis extracellular region serine-type carboxypeptidase activity endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|skin(2) 14 Breast(9;2.86e-08) TTATGTGACGGTCCGCAAGGA 0.493000 3 67 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9090831 9090831 + Silent SNP A A G TCGA-DJ-A3UK-01A-11D-A22D-08 TCGA-DJ-A3UK-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx b796fc76-16ca-4659-a0a1-8b6f58ae6493 e5f80f02-e798-4861-bd03-6933647e5d7d g.chr19:9090831A>G uc002mkp.3 - 0 1188 c.984T>C c.(982-984)ccT>ccC p.P328P NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 328 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 TCATGGAAAAAGGGATAGCTG 0.522000 4 92 0 0 1 0 0 BRE 9577 broad.mit.edu 37 2 28152748 28152748 + Missense_Mutation SNP A A T TCGA-DJ-A3UK-01A-11D-A22D-08 TCGA-DJ-A3UK-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx b796fc76-16ca-4659-a0a1-8b6f58ae6493 e5f80f02-e798-4861-bd03-6933647e5d7d g.chr2:28152748A>T uc002rls.3 + 2 430 c.178A>T c.(178-180)Ata>Tta p.I60L BRE_uc002rlp.1_Missense_Mutation_p.I60L|BRE_uc002rlq.3_Missense_Mutation_p.I60L|BRE_uc002rlr.3_Missense_Mutation_p.I60L|BRE_uc002rlt.3_Missense_Mutation_p.I60L|BRE_uc002rlu.3_Missense_Mutation_p.I60L|BRE_uc002rlv.3_5'UTR NM_004899 NP_004890 Q9NXR7 BRE_HUMAN Homo sapiens brain and reproductive organ-expressed (TNFRSF1A modulator) (BRE), transcript variant 1, mRNA. 60 UEV-like 1. G2/M transition DNA damage checkpoint|apoptosis|chromatin modification|double-strand break repair|positive regulation of DNA repair|positive regulation of anti-apoptosis|response to ionizing radiation|signal transduction BRCA1-A complex|BRISC complex|cytoplasm|nuclear ubiquitin ligase complex peroxisome targeting sequence binding|polyubiquitin binding|tumor necrosis factor receptor binding NS(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(2) 23 Acute lymphoblastic leukemia(172;0.155) TAAACTGCACATACCATATGC 0.343000 3 81 0 0 1 0 0 ABI3BP 25890 broad.mit.edu 37 3 100473513 100473513 + Missense_Mutation SNP T T G TCGA-DJ-A3UK-01A-11D-A22D-08 TCGA-DJ-A3UK-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx b796fc76-16ca-4659-a0a1-8b6f58ae6493 e5f80f02-e798-4861-bd03-6933647e5d7d g.chr3:100473513T>G uc003dun.3 - 30 2825 c.2740A>C c.(2740-2742)Aaa>Caa p.K914Q ABI3BP_uc003duj.3_Missense_Mutation_p.K494Q|ABI3BP_uc003duk.3_Missense_Mutation_p.K623Q|ABI3BP_uc003dul.3_Missense_Mutation_p.K744Q|ABI3BP_uc011bhd.2_Missense_Mutation_p.K868Q|ABI3BP_uc003dum.3_Missense_Mutation_p.K325Q NM_015429 NP_056244 Q7Z7G0 TARSH_HUMAN Homo sapiens ABI family, member 3 (NESH) binding protein (ABI3BP), mRNA. 914 Fibronectin type-III 2. extracellular space central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 50 AGCGGGTTTTTGGGTTTCACC 0.413000 2 11 0 0 1 0 0 FOXP3 50943 broad.mit.edu 37 X 49113414 49113414 + Silent SNP G G A TCGA-DJ-A3UK-01A-11D-A22D-08 TCGA-DJ-A3UK-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx b796fc76-16ca-4659-a0a1-8b6f58ae6493 e5f80f02-e798-4861-bd03-6933647e5d7d g.chrX:49113414G>A uc011mnb.2 - 3 532 c.510C>T c.(508-510)acC>acT p.T170T FOXP3_uc011mnc.2_Silent_p.T170T|FOXP3_uc004dnf.4_Silent_p.T170T|FOXP3_uc004dne.4_Silent_p.T135T|FOXP3_uc022bwa.1_Silent_p.T120T NM_014009 NP_054728 Q9BZS1 FOXP3_HUMAN Homo sapiens forkhead box P3 (FOXP3), transcript variant 1, mRNA. 170 B cell homeostasis|T cell homeostasis|T cell receptor signaling pathway|cerebellum development|chromatin remodeling|embryo development|myeloid cell homeostasis|negative regulation of CREB transcription factor activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of T cell cytokine production|negative regulation of activated T cell proliferation|negative regulation of chronic inflammatory response|negative regulation of cytokine secretion|negative regulation of histone acetylation|negative regulation of histone deacetylation|negative regulation of interferon-gamma biosynthetic process|negative regulation of interferon-gamma production|negative regulation of interleukin-10 production|negative regulation of interleukin-2 biosynthetic process|negative regulation of interleukin-2 production|negative regulation of interleukin-4 production|negative regulation of interleukin-5 production|negative regulation of interleukin-6 production|negative regulation of isotype switching to IgE isotypes|negative regulation of tumor necrosis factor production|pattern specification process|positive regulation of CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation|positive regulation of T cell anergy|positive regulation of histone acetylation|positive regulation of immature T cell proliferation in thymus|positive regulation of peripheral T cell tolerance induction|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transforming growth factor-beta1 production|post-embryonic development|regulation of isotype switching to IgG isotypes|response to virus|tolerance induction to self antigen cytoplasm|nucleus|transcription factor complex DNA bending activity|NF-kappaB binding|NFAT protein binding|chromatin binding|double-stranded DNA binding|histone acetyltransferase binding|histone deacetylase 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 corepressor activity|zinc ion binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1) 10 Ovarian(276;0.236) GATTTGGGAAGGTGCAGAGCA 0.652000 3 91 0 0 1 0 0 PHACTR1 221692 broad.mit.edu 37 6 13283734 13283734 + Silent SNP C C T TCGA-DJ-A3UK-01A-11D-A22D-08 TCGA-DJ-A3UK-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx b796fc76-16ca-4659-a0a1-8b6f58ae6493 e5f80f02-e798-4861-bd03-6933647e5d7d g.chr6:13283734C>T uc003nah.2 + 12 1963 c.1590C>T c.(1588-1590)gaC>gaT p.D530D PHACTR1_uc010jpc.3_Silent_p.D530D|TBC1D7_uc003naj.3_Intron|TBC1D7_uc011dis.2_Intron|LOC100130357_uc003nak.1_Intron NM_030948 NP_112210 Q9C0D0 PHAR1_HUMAN Homo sapiens phosphatase and actin regulator 1 (PHACTR1), transcript variant 1, mRNA. 530 cell junction|cytoplasm|synapse actin binding|protein phosphatase inhibitor activity breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3) 26 Breast(50;0.0427)|Ovarian(93;0.12) all_hematologic(90;0.122)|Lung SC(78;0.195) Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239) AGGTGGCTGACGCTCAGGACT 0.597000 9 210 0 0 1 0 0 LDB2 9079 broad.mit.edu 37 4 16900067 16900067 + Silent SNP G G A TCGA-DJ-A3UK-01A-11D-A22D-08 TCGA-DJ-A3UK-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx b796fc76-16ca-4659-a0a1-8b6f58ae6493 e5f80f02-e798-4861-bd03-6933647e5d7d g.chr4:16900067G>A uc003goz.3 - 0 358 c.42C>T c.(40-42)ttC>ttT p.F14F LDB2_uc003gpa.3_Silent_p.F14F|LDB2_uc011bxh.2_Silent_p.F14F|LDB2_uc003gpb.3_Silent_p.F14F|LDB2_uc010iee.3_Silent_p.F14F NM_001290 NP_001281 O43679 LDB2_HUMAN Homo sapiens LIM domain binding 2 (LDB2), transcript variant 1, mRNA. 14 LIM domain binding|transcription cofactor activity breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(23)|urinary_tract(1) 33 AAAATGGGCCGAAAGGAGAAG 0.458000 3 79 0 0 1 0 0 GAS2L2 246176 broad.mit.edu 37 17 34074068 34074068 + Missense_Mutation SNP G G A TCGA-DJ-A3UK-01A-11D-A22D-08 TCGA-DJ-A3UK-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx b796fc76-16ca-4659-a0a1-8b6f58ae6493 e5f80f02-e798-4861-bd03-6933647e5d7d g.chr17:34074068G>A uc002hjv.2 - 4 1080 c.1052C>T c.(1051-1053)aCg>aTg p.T351M NM_139285 NP_644814 Q8NHY3 GA2L2_HUMAN Homo sapiens growth arrest-specific 2 like 2 (GAS2L2), mRNA. 351 cell cycle arrest cytoplasm|cytoskeleton central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 35 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) GGAGGCCCCCGTCCCTGCTCC 0.612000 10 96 0 0 1 0 0 NAA11 84779 broad.mit.edu 37 4 80246702 80246702 + Silent SNP G G A TCGA-DJ-A3UK-01A-11D-A22D-08 TCGA-DJ-A3UK-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx b796fc76-16ca-4659-a0a1-8b6f58ae6493 e5f80f02-e798-4861-bd03-6933647e5d7d g.chr4:80246702G>A uc003hlt.4 - 0 470 c.330C>T c.(328-330)caC>caT p.H110H NAA11_uc021xpl.1_Silent_p.H110H NM_032693 NP_116082 Q9BSU3 NAA11_HUMAN Homo sapiens N(alpha)-acetyltransferase 11, NatA catalytic subunit (NAA11), mRNA. 110 N-acetyltransferase. cytoplasm|nucleus peptide alpha-N-acetyltransferase activity|protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|skin(2) 23 TCTTCCTGACGTGCAGAGACA 0.522000 17 46 0 0 1 0 0 SHMT1 6470 broad.mit.edu 37 17 18232139 18232139 + Silent SNP C C T TCGA-DJ-A3UK-01A-11D-A22D-08 TCGA-DJ-A3UK-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx b796fc76-16ca-4659-a0a1-8b6f58ae6493 e5f80f02-e798-4861-bd03-6933647e5d7d g.chr17:18232139C>T uc002gta.3 - 11 1567 c.1377G>A c.(1375-1377)gcG>gcA p.A459A SHMT1_uc002gsz.3_Silent_p.A234A|SHMT1_uc002gtb.3_Silent_p.A420A|SHMT1_uc010vxt.2_Silent_p.A321A NM_004169 NP_004160 P34896 GLYC_HUMAN Homo sapiens serine hydroxymethyltransferase 1 (soluble) (SHMT1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 459 L-serine catabolic process|carnitine biosynthetic process|folic acid metabolic process|one-carbon metabolic process|purine base biosynthetic process cytosol|nucleus glycine hydroxymethyltransferase activity|protein homodimerization activity|pyridoxal phosphate binding breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1) 13 Glycine(DB00145)|Mimosine(DB01055)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116) CCTGCACGGCCGCCTGGTACT 0.612000 3 43 0 0 1 0 0 TLL2 7093 broad.mit.edu 37 10 98188429 98188429 + Silent SNP C C A rs141217387 TCGA-DJ-A3UK-01A-11D-A22D-08 TCGA-DJ-A3UK-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx b796fc76-16ca-4659-a0a1-8b6f58ae6493 e5f80f02-e798-4861-bd03-6933647e5d7d g.chr10:98188429C>A uc001kml.2 - 4 838 c.597G>T c.(595-597)acG>acT p.T199T TLL2_uc009xvf.2_Silent_p.T147T NM_012465 NP_036597 Q9Y6L7 TLL2_HUMAN Homo sapiens tolloid-like 2 (TLL2), mRNA. 199 Metalloprotease (By similarity). cell differentiation|multicellular organismal development|proteolysis extracellular region calcium ion binding|metalloendopeptidase activity|zinc ion binding NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3) 58 Colorectal(252;0.0846) Epithelial(162;1.51e-07)|all cancers(201;7.59e-06) TTTCCTCATCCGTCCTTTCTA 0.498000 3 86 0 0 1 0 0 FXYD4 53828 broad.mit.edu 37 10 43869919 43869919 + Splice_Site SNP C C G TCGA-DJ-A3UK-01A-11D-A22D-08 TCGA-DJ-A3UK-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx b796fc76-16ca-4659-a0a1-8b6f58ae6493 e5f80f02-e798-4861-bd03-6933647e5d7d g.chr10:43869919C>G uc001jaq.1 + 4 370 c.38_splice c.e4-1 p.G13_splice NM_001184963 NP_001171892 P59646 FXYD4_HUMAN Homo sapiens FXYD domain containing ion transport regulator 4 (FXYD4), transcript variant 2, mRNA. 13 integral to membrane NS(1)|large_intestine(1)|lung(3) 5 CCCACACAGGCCTGACTGCCT 0.587000 95 164 0 0 1 0 0 ADAMDEC1 27299 broad.mit.edu 37 8 24254877 24254877 + Missense_Mutation SNP G G A TCGA-DJ-A3UK-01A-11D-A22D-08 TCGA-DJ-A3UK-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx b796fc76-16ca-4659-a0a1-8b6f58ae6493 e5f80f02-e798-4861-bd03-6933647e5d7d g.chr8:24254877G>A uc003xdz.2 + 5 755 c.535G>A c.(535-537)Gaa>Aaa p.E179K ADAMDEC1_uc010lub.2_Missense_Mutation_p.E100K|ADAMDEC1_uc011lab.1_Missense_Mutation_p.E100K NM_014479 NP_001138744 O15204 ADEC1_HUMAN Homo sapiens ADAM-like, decysin 1 (ADAMDEC1), transcript variant 1, mRNA. 179 integrin-mediated signaling pathway|negative regulation of cell adhesion|proteolysis extracellular region|integral to membrane integrin binding|metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|large_intestine(4)|skin(2)|stomach(1) 9 Prostate(55;0.0181) Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168) TAACCAGGAGGAACAAGACCC 0.458000 6 286 0 0 1 0 0 ANGPT4 51378 broad.mit.edu 37 20 853717 853717 + Silent SNP G G A TCGA-DJ-A3UK-01A-11D-A22D-08 TCGA-DJ-A3UK-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx b796fc76-16ca-4659-a0a1-8b6f58ae6493 e5f80f02-e798-4861-bd03-6933647e5d7d g.chr20:853717G>A uc002wei.3 - 8 1501 c.1398C>T c.(1396-1398)taC>taT p.Y466Y ANGPT4_uc010zpn.2_3'UTR NM_015985 NP_057069 Q9Y264 ANGP4_HUMAN Homo sapiens angiopoietin 4 (ANGPT4), mRNA. 466 Fibrinogen C-terminal. anti-apoptosis|blood coagulation|cellular response to hypoxia|leukocyte migration|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|signal transduction extracellular space receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1) 27 GAGCGTGGTAGTAGACGCCGT 0.612000 3 66 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-DJ-A3UK-01A-11D-A22D-08 TCGA-DJ-A3UK-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx b796fc76-16ca-4659-a0a1-8b6f58ae6493 e5f80f02-e798-4861-bd03-6933647e5d7d g.chr7:140453136A>T uc003vwc.4 - 14 1860 c.1799T>A c.(1798-1800)gTg>gAg p.V600E NM_004333 NP_004324 P15056 BRAF_HUMAN Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA. 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(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(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 41 49 0 0 1 0 0 HCAR1 27198 broad.mit.edu 37 12 123214145 123214145 + Missense_Mutation SNP G G A TCGA-DJ-A3UK-01A-11D-A22D-08 TCGA-DJ-A3UK-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx b796fc76-16ca-4659-a0a1-8b6f58ae6493 e5f80f02-e798-4861-bd03-6933647e5d7d g.chr12:123214145G>A uc001ucz.3 - 0 985 c.742C>T c.(742-744)Ccc>Tcc p.P248S HCAR1_uc001ucw.1_Non-coding_Transcript NM_032554 NP_115943 Q9BXC0 HCAR1_HUMAN Homo sapiens hydroxycarboxylic acid receptor 1 (HCAR1), mRNA. 248 response to estradiol stimulus integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|breast(3)|endometrium(1)|kidney(1)|lung(1)|ovary(1)|pancreas(1)|skin(1) 10 GCACTCGAGGGCACCGTCCAG 0.537000 4 76 0 0 1 0 0 LAMA2 3908 broad.mit.edu 37 6 129649469 129649469 + Missense_Mutation SNP G G A TCGA-DJ-A3UK-01A-11D-A22D-08 TCGA-DJ-A3UK-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx b796fc76-16ca-4659-a0a1-8b6f58ae6493 e5f80f02-e798-4861-bd03-6933647e5d7d g.chr6:129649469G>A uc021zfb.1 + 28 4328 c.4223G>A c.(4222-4224)cGc>cAc p.R1408H LAMA2_uc003qbn.3_Missense_Mutation_p.R1408H|LAMA2_uc003qbo.3_Missense_Mutation_p.R1408H NM_000426 NP_000417 P24043 LAMA2_HUMAN Homo sapiens laminin, alpha 2 (LAMA2), transcript variant 1, mRNA. 1408 Laminin EGF-like 14; second part. cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity p.R1408H(2) NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2) 194 OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245) CCAGGTGGCCGCACCCCTGGA 0.502000 5 131 0 0 1 0 0 B3GNT6 192134 broad.mit.edu 37 11 76751195 76751195 + Silent SNP G G A TCGA-DJ-A3UK-01A-11D-A22D-08 TCGA-DJ-A3UK-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx b796fc76-16ca-4659-a0a1-8b6f58ae6493 e5f80f02-e798-4861-bd03-6933647e5d7d g.chr11:76751195G>A uc021qnp.1 + 1 688 c.600G>A c.(598-600)aaG>aaA p.K200K B3GNT6_uc021qnq.1_Silent_p.K200K NM_138706 NP_619651 Q6ZMB0 B3GN6_HUMAN Homo sapiens UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 6 (core 3 synthase) (B3GNT6), mRNA. 200 O-glycan processing, core 3 Golgi membrane|integral to membrane beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity|galactosyltransferase activity central_nervous_system(1)|kidney(2)|lung(4)|prostate(1) 8 TCACGCTCAAGCACCTGCACT 0.697000 78 88 0 0 1 0 0