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 APBB1 322 broad.mit.edu 37 11 6422254 6422254 + Missense_Mutation SNP T T C TCGA-DJ-A1QE-01A-21D-A14W-08 TCGA-DJ-A1QE-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94f45d79-f4d0-4652-8cb5-08e2bbac043d 7f5fa0d9-7c50-432d-852e-de290831bc52 g.chr11:6422254T>C uc001mdb.1 - 10 1731 c.1631A>G c.(1630-1632)tAt>tGt p.Y544C APBB1_uc001mdd.3_Missense_Mutation_p.Y324C|APBB1_uc001mdc.1_Missense_Mutation_p.Y544C|APBB1_uc010rab.2_Missense_Mutation_p.Y71C NM_001164 NP_001155 O00213 APBB1_HUMAN Homo sapiens amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65) (APBB1), transcript variant 1, mRNA. 546 PID 2. apoptosis|axonogenesis|cell cycle arrest|histone H4 acetylation|negative regulation of S phase of mitotic cell cycle|negative regulation of cell growth|negative regulation of thymidylate synthase biosynthetic process|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|signal transduction|transcription, DNA-dependent cytoplasm|growth cone|lamellipodium|nucleus|plasma membrane|synapse beta-amyloid binding|chromatin binding|histone binding|proline-rich region binding|transcription factor binding breast(4)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|prostate(2)|skin(1)|urinary_tract(1) 24 Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029) Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194) CCCCAGGTAATAGACTTGGAA 0.498000 156 177 0 0 1 0 0 PLA1A 51365 broad.mit.edu 37 3 119336952 119336952 + Missense_Mutation SNP C C T TCGA-DJ-A1QE-01A-21D-A14W-08 TCGA-DJ-A1QE-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94f45d79-f4d0-4652-8cb5-08e2bbac043d 7f5fa0d9-7c50-432d-852e-de290831bc52 g.chr3:119336952C>T uc003ecu.3 + 6 907 c.841C>T c.(841-843)Ccc>Tcc p.P281S PLA1A_uc003ecv.3_Missense_Mutation_p.P265S|PLA1A_uc011bjc.2_Missense_Mutation_p.P108S|PLA1A_uc003ecw.3_Non-coding_Transcript NM_015900 NP_001193890 Q53H76 PLA1A_HUMAN Homo sapiens phospholipase A1 member A (PLA1A), transcript variant 1, mRNA. 281 lipid catabolic process|phosphatidylserine metabolic process extracellular region phospholipase A1 activity NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 30 GATGGCCTTTCCCTGTGCCAG 0.498000 26 318 0 0 1 0 0 KIAA0146 23514 broad.mit.edu 37 8 48625364 48625364 + Silent SNP T T C TCGA-DJ-A1QE-01A-21D-A14W-08 TCGA-DJ-A1QE-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94f45d79-f4d0-4652-8cb5-08e2bbac043d 7f5fa0d9-7c50-432d-852e-de290831bc52 g.chr8:48625364T>C uc003xqd.3 + 14 2180 c.2118T>C c.(2116-2118)tcT>tcC p.S706S KIAA0146_uc011ldb.2_Silent_p.S706S|KIAA0146_uc010lxs.3_Silent_p.S181S|KIAA0146_uc011ldc.2_Silent_p.S636S|KIAA0146_uc011ldd.2_Silent_p.S646S|KIAA0146_uc003xqe.3_Silent_p.S181S|KIAA0146_uc003xqf.3_Non-coding_Transcript|KIAA0146_uc011lde.1_Silent_p.S395S|KIAA0146_uc010lxt.3_Silent_p.S395S|KIAA0146_uc011ldf.2_Silent_p.S211S|KIAA0146_uc011ldg.2_Silent_p.S196S|KIAA0146_uc003xqg.1_5'Flank NM_001080394 NP_001073863 Q14159 K0146_HUMAN Homo sapiens KIAA0146 (KIAA0146), mRNA. 706 central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 31 Lung NSC(58;0.175) TGCTGGGCTCTGAAGTCCTGG 0.597000 3 101 0 0 1 0 0 PHF7 51533 broad.mit.edu 37 3 52454958 52454958 + Silent SNP A A G TCGA-DJ-A1QE-01A-21D-A14W-08 TCGA-DJ-A1QE-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94f45d79-f4d0-4652-8cb5-08e2bbac043d 7f5fa0d9-7c50-432d-852e-de290831bc52 g.chr3:52454958A>G uc003ddy.3 + 6 1259 c.453A>G c.(451-453)caA>caG p.Q151Q PHF7_uc003ddz.3_Silent_p.Q151Q NM_016483 NP_057567 Q9BWX1 PHF7_HUMAN Homo sapiens PHD finger protein 7 (PHF7), transcript variant 1, mRNA. 151 nucleus zinc ion binding breast(2)|large_intestine(4)|lung(3) 9 BRCA - Breast invasive adenocarcinoma(193;1.71e-05)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)|OV - Ovarian serous cystadenocarcinoma(275;0.0275) AGAACATCCAACATGGGCATG 0.468000 44 61 0 0 1 0 0 SPAM1 6677 broad.mit.edu 37 7 123599696 123599696 + Missense_Mutation SNP C C G TCGA-DJ-A1QE-01A-21D-A14W-08 TCGA-DJ-A1QE-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94f45d79-f4d0-4652-8cb5-08e2bbac043d 7f5fa0d9-7c50-432d-852e-de290831bc52 g.chr7:123599696C>G uc003vle.3 + 4 1642 c.1203C>G c.(1201-1203)aaC>aaG p.N401K SPAM1_uc011koa.1_Missense_Mutation_p.N57K|SPAM1_uc003vld.3_Missense_Mutation_p.N401K|SPAM1_uc022aks.1_Missense_Mutation_p.N401K|SPAM1_uc003vlf.4_Missense_Mutation_p.N401K|SPAM1_uc010lku.3_Missense_Mutation_p.N401K NM_003117 NP_003108 P38567 HYALP_HUMAN Homo sapiens sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding) (SPAM1), transcript variant 1, mRNA. 401 binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane anchored to membrane|plasma membrane hyalurononglucosaminidase activity p.L400F(1) breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 Hyaluronidase(DB00070) TTCACCTCAACCCAGATAATT 0.403000 9 69 0 0 1 0 0 ZNF700 90592 broad.mit.edu 37 19 12059975 12059975 + Missense_Mutation SNP C C A TCGA-DJ-A1QE-01A-21D-A14W-08 TCGA-DJ-A1QE-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94f45d79-f4d0-4652-8cb5-08e2bbac043d 7f5fa0d9-7c50-432d-852e-de290831bc52 g.chr19:12059975C>A uc010xme.2 + 4 1381 c.1190C>A c.(1189-1191)aCa>aAa p.T397K ZNF700_uc002msu.3_Missense_Mutation_p.T379K|ZNF700_uc010xmf.2_Intron Q9H0M5 ZN700_HUMAN Homo sapiens zinc finger protein 700 (ZNF700), mRNA. 379 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ZNF700/MAST1_ENST00000251472(2) breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1) 33 TCATTTCAAACACATGAAAAA 0.353000 3 64 0 0 1 0 0 FAM179B 23116 broad.mit.edu 37 14 45542645 45542645 + Missense_Mutation SNP T T C TCGA-DJ-A1QE-01A-21D-A14W-08 TCGA-DJ-A1QE-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94f45d79-f4d0-4652-8cb5-08e2bbac043d 7f5fa0d9-7c50-432d-852e-de290831bc52 g.chr14:45542645T>C uc001wvw.3 + 19 5412 c.5203T>C c.(5203-5205)Tca>Cca p.S1735P FAM179B_uc001wvv.3_Missense_Mutation_p.S1682P|FAM179B_uc010anc.3_Non-coding_Transcript NM_015091 NP_055906 Q9Y4F4 F179B_HUMAN Homo sapiens family with sequence similarity 179, member B (FAM179B), mRNA. 1682 binding endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 45 AGCTAAATTATCAAAAGCACT 0.408000 9 44 0 0 1 0 0 EXT1 2131 broad.mit.edu 37 8 118817027 118817027 + Silent SNP A A G TCGA-DJ-A1QE-01A-21D-A14W-08 TCGA-DJ-A1QE-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94f45d79-f4d0-4652-8cb5-08e2bbac043d 7f5fa0d9-7c50-432d-852e-de290831bc52 g.chr8:118817027A>G uc003yok.1 - 9 2762 c.1989T>C c.(1987-1989)gcT>gcC p.A663A NM_000127 NP_000118 Q16394 EXT1_HUMAN Homo sapiens exostosin 1 (EXT1), mRNA. 663 glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction|skeletal system development Golgi membrane|integral to endoplasmic reticulum membrane N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|protein heterodimerization activity|protein homodimerization activity breast(1)|endometrium(7)|kidney(1)|large_intestine(12)|lung(10)|ovary(3)|prostate(1)|stomach(1)|urinary_tract(2) 38 all_cancers(13;2.36e-26)|Lung NSC(37;5.02e-07)|Ovarian(258;0.0173) STAD - Stomach adenocarcinoma(47;0.012) ATTTTGTCACAGCAGACACCA 0.468000 """Mis, N, F, S""" """exostoses, osteosarcoma""" Langer-Giedion syndrome;Hereditary Multiple Exostoses 17 69 0 0 1 0 0 USP51 158880 broad.mit.edu 37 X 55514742 55514742 + Missense_Mutation SNP G G C TCGA-DJ-A1QE-01A-21D-A14W-08 TCGA-DJ-A1QE-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94f45d79-f4d0-4652-8cb5-08e2bbac043d 7f5fa0d9-7c50-432d-852e-de290831bc52 g.chrX:55514742G>C uc004dun.2 - 1 710 c.631C>G c.(631-633)Ctg>Gtg p.L211V USP51_uc022bxu.1_Missense_Mutation_p.L211V NM_201286 NP_958443 Q70EK9 UBP51_HUMAN Homo sapiens ubiquitin specific peptidase 51 (USP51), mRNA. 211 ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(2) 30 ATCAACCTCAGGTTCTTCTGC 0.502000 6 36 0 0 1 0 0 RPL22L1 200916 broad.mit.edu 37 3 170586127 170586127 + Missense_Mutation SNP G G T TCGA-DJ-A1QE-01A-21D-A14W-08 TCGA-DJ-A1QE-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94f45d79-f4d0-4652-8cb5-08e2bbac043d 7f5fa0d9-7c50-432d-852e-de290831bc52 g.chr3:170586127G>T uc003fhc.4 - 1 151 c.62C>A c.(61-63)aCt>aAt p.T21N RPL22L1_uc003fhb.4_Non-coding_Transcript NM_001099645 NP_001093115 Q6P5R6 RL22L_HUMAN Homo sapiens ribosomal protein L22-like 1 (RPL22L1), mRNA. 21 translation ribosome structural constituent of ribosome kidney(2)|large_intestine(1)|upper_aerodigestive_tract(1) 4 all_cancers(22;1.96e-19)|all_lung(20;1.59e-15)|Lung NSC(18;7.08e-15)|Ovarian(172;0.00197)|Breast(254;0.137) LUSC - Lung squamous cell carcinoma(14;1.1e-14)|Lung(28;2.99e-14) TACTGGATGAGTAAGGTCCAA 0.313000 19 25 0 0 1 0 0 PIK3C2A 5286 broad.mit.edu 37 11 17190952 17190952 + Missense_Mutation SNP T T G TCGA-DJ-A1QE-01A-21D-A14W-08 TCGA-DJ-A1QE-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94f45d79-f4d0-4652-8cb5-08e2bbac043d 7f5fa0d9-7c50-432d-852e-de290831bc52 g.chr11:17190952T>G uc001mmq.4 - 0 402 c.337A>C c.(337-339)Aaa>Caa p.K113Q PIK3C2A_uc009ygu.1_Intron|PIK3C2A_uc010rcw.2_Intron|PIK3C2A_uc001mmr.3_Non-coding_Transcript|PIK3C2A_uc010rcx.1_Missense_Mutation_p.K113Q|PIK3C2A_uc009ygv.1_Missense_Mutation_p.K113Q NM_002645 NP_002636 O00443 P3C2A_HUMAN Homo sapiens phosphoinositide-3-kinase, class 2, alpha polypeptide (PIK3C2A), mRNA. 113 Interaction with clathrin. cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling Golgi apparatus|clathrin-coated vesicle|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 58 Phosphatidylserine(DB00144) ACAGGTGTTTTTTTAGTCTCG 0.403000 12 133 0 0 1 0 0 PLD5 200150 broad.mit.edu 37 1 242428743 242428743 + Missense_Mutation SNP C C T TCGA-DJ-A1QE-01A-21D-A14W-08 TCGA-DJ-A1QE-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94f45d79-f4d0-4652-8cb5-08e2bbac043d 7f5fa0d9-7c50-432d-852e-de290831bc52 g.chr1:242428743C>T uc001hzn.2 - 4 730 c.503G>A c.(502-504)cGt>cAt p.R168H PLD5_uc021pll.1_Missense_Mutation_p.R76H|PLD5_uc001hzl.4_Missense_Mutation_p.R106H|PLD5_uc001hzm.4_5'UTR|PLD5_uc001hzo.2_Missense_Mutation_p.R76H NM_152666 NP_001182741 Q8N7P1 PLD5_HUMAN Homo sapiens phospholipase D family, member 5 (PLD5), transcript variant 1, mRNA. 168 integral to membrane catalytic activity breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(22)|ovary(6)|skin(3)|urinary_tract(1) 55 Melanoma(84;0.242) OV - Ovarian serous cystadenocarcinoma(106;0.0329) TTCAAAAAGACGTTGACCCTG 0.313000 19 33 0 0 1 0 0 NBR1 4077 broad.mit.edu 37 17 41342634 41342634 + Missense_Mutation SNP C C T TCGA-DJ-A1QE-01A-21D-A14W-08 TCGA-DJ-A1QE-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94f45d79-f4d0-4652-8cb5-08e2bbac043d 7f5fa0d9-7c50-432d-852e-de290831bc52 g.chr17:41342634C>T uc010czd.3 + 8 844 c.704C>T c.(703-705)cCa>cTa p.P235L NBR1_uc010diz.3_Missense_Mutation_p.P235L|NBR1_uc010whu.2_Missense_Mutation_p.P235L|NBR1_uc010whv.2_Missense_Mutation_p.P235L|NBR1_uc010whw.2_Missense_Mutation_p.P214L|NBR1_uc010whx.1_Missense_Mutation_p.P44L NM_031862 NP_114068 Q14596 NBR1_HUMAN Homo sapiens neighbor of BRCA1 gene 1 (NBR1), transcript variant 3, mRNA. 235 macroautophagy|protein oligomerization autophagic vacuole|cytoplasmic vesicle|cytosol|late endosome|lysosome|sarcomere ubiquitin binding|zinc ion binding NS(1)|breast(1)|cervix(1)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 24 Breast(137;0.00086) BRCA - Breast invasive adenocarcinoma(366;0.0934) AGCCTATGCCCATCCTACAAT 0.483000 4 10 0 0 1 0 0 PPP1R13B 23368 broad.mit.edu 37 14 104224043 104224043 + Missense_Mutation SNP T T C TCGA-DJ-A1QE-01A-21D-A14W-08 TCGA-DJ-A1QE-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94f45d79-f4d0-4652-8cb5-08e2bbac043d 7f5fa0d9-7c50-432d-852e-de290831bc52 g.chr14:104224043T>C uc001yof.1 - 4 683 c.400A>G c.(400-402)Atg>Gtg p.M134V PPP1R13B_uc001yog.1_Missense_Mutation_p.M1V NM_015316 NP_056131 Q96KQ4 ASPP1_HUMAN Homo sapiens protein phosphatase 1, regulatory subunit 13B (PPP1R13B), mRNA. 134 Gln-rich. apoptosis|induction of apoptosis|negative regulation of cell cycle cytoplasm|nucleus|plasma membrane protein binding endometrium(6)|kidney(2)|large_intestine(7)|lung(16)|ovary(1)|upper_aerodigestive_tract(1) 33 all_cancers(154;0.173)|all_epithelial(191;0.131)|Melanoma(154;0.155) CTAGCTGCCATATCTTGGAGC 0.388000 4 90 0 0 1 0 0 LOX 4015 broad.mit.edu 37 5 121409788 121409788 + Missense_Mutation SNP G G A TCGA-DJ-A1QE-01A-21D-A14W-08 TCGA-DJ-A1QE-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94f45d79-f4d0-4652-8cb5-08e2bbac043d 7f5fa0d9-7c50-432d-852e-de290831bc52 g.chr5:121409788G>A uc003ksu.3 - 3 1330 c.955C>T c.(955-957)Cac>Tac p.H319Y LOX_uc010jcp.3_Missense_Mutation_p.H22Y|LOX_uc010jcq.3_Missense_Mutation_p.H22Y|LOX_uc010jcr.3_Missense_Mutation_p.H22Y|LOX_uc011cwk.2_Missense_Mutation_p.H89Y NM_002317 NP_002308 P28300 LYOX_HUMAN Homo sapiens lysyl oxidase (LOX), transcript variant 1, mRNA. 319 Lysyl-oxidase like. protein modification process extracellular space copper ion binding|protein-lysine 6-oxidase activity endometrium(1)|lung(6)|prostate(1) 8 all_cancers(142;0.0124)|Prostate(80;0.0322)|Ovarian(225;0.0814)|Breast(839;0.143) KIRC - Kidney renal clear cell carcinoma(527;0.206) Epithelial(69;2.14e-11)|OV - Ovarian serous cystadenocarcinoma(64;7.87e-10)|all cancers(49;2.49e-09)|COAD - Colon adenocarcinoma(49;0.02) CTTGCTTTGTGGCCTTCAGCC 0.468000 4 123 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-DJ-A1QE-01A-21D-A14W-08 TCGA-DJ-A1QE-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94f45d79-f4d0-4652-8cb5-08e2bbac043d 7f5fa0d9-7c50-432d-852e-de290831bc52 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 32 29 0 0 1 0 0 PRPF8 10594 broad.mit.edu 37 17 1564570 1564570 + Missense_Mutation SNP A A C TCGA-DJ-A1QE-01A-21D-A14W-08 TCGA-DJ-A1QE-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94f45d79-f4d0-4652-8cb5-08e2bbac043d 7f5fa0d9-7c50-432d-852e-de290831bc52 g.chr17:1564570A>C uc002fte.3 - 26 4447 c.4333T>G c.(4333-4335)Tat>Gat p.Y1445D NM_006445 NP_006436 Q6P2Q9 PRP8_HUMAN Homo sapiens PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae) (PRPF8), mRNA. 1445 U5 snRNP|catalytic step 2 spliceosome|nuclear speck RNA binding|protein binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3) 77 UCEC - Uterine corpus endometrioid carcinoma (25;0.0855) CATACCTGATACTGCTTAAAG 0.512000 23 100 0 0 1 0 0 MED16 10025 broad.mit.edu 37 19 889754 889754 + Missense_Mutation SNP C C T TCGA-DJ-A1QE-01A-21D-A14W-08 TCGA-DJ-A1QE-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94f45d79-f4d0-4652-8cb5-08e2bbac043d 7f5fa0d9-7c50-432d-852e-de290831bc52 g.chr19:889754C>T uc002lqd.1 - 3 482 c.331G>A c.(331-333)Gcg>Acg p.A111T MED16_uc002lqe.3_Missense_Mutation_p.A100T|MED16_uc002lqf.3_Missense_Mutation_p.A100T|MED16_uc010xfv.1_Intron|MED16_uc010xfw.1_Missense_Mutation_p.A100T|MED16_uc010xfx.1_Missense_Mutation_p.A100T|MED16_uc010xfy.1_Missense_Mutation_p.A100T NM_005481 NP_005472 Q9Y2X0 MED16_HUMAN Homo sapiens mediator complex subunit 16 (MED16), mRNA. 111 androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex receptor activity|thyroid hormone receptor binding|thyroid hormone receptor coactivator activity|vitamin D receptor binding NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 21 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) AGGTGGTCCGCCATGCTCCAG 0.617000 5 12 0 0 1 0 0 TTC40 54777 broad.mit.edu 37 10 134743170 134743170 + Silent SNP C C T TCGA-DJ-A1QE-01A-21D-A14W-08 TCGA-DJ-A1QE-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94f45d79-f4d0-4652-8cb5-08e2bbac043d 7f5fa0d9-7c50-432d-852e-de290831bc52 g.chr10:134743170C>T uc001llt.2 - 8 1106 c.1005G>A c.(1003-1005)gcG>gcA p.A335A TTC40_uc021qbc.1_Intron NM_173572 NP_775843 Q8IYW2 CJ092_HUMAN RecName: Full=TPR repeat-containing protein C10orf93; 0 breast(1)|endometrium(5)|lung(19)|urinary_tract(3) 28 CGGTGAGCAGCGCCTCATCCC 0.557000 12 85 0 0 1 0 0 ARSE 415 broad.mit.edu 37 X 2864076 2864076 + Silent SNP C C A TCGA-DJ-A1QE-01A-21D-A14W-08 TCGA-DJ-A1QE-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94f45d79-f4d0-4652-8cb5-08e2bbac043d 7f5fa0d9-7c50-432d-852e-de290831bc52 g.chrX:2864076C>A uc011mhh.2 - 7 1490 c.1029G>T c.(1027-1029)ctG>ctT p.L343L ARSE_uc011mhi.2_Silent_p.L264L|ARSE_uc004crc.4_Silent_p.L318L P51690 ARSE_HUMAN Homo sapiens arylsulfatase E (chondrodysplasia punctata 1) (ARSE), mRNA. 318 skeletal system development Golgi stack arylsulfatase activity|metal ion binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) TGTCCCCATACAGCCCGTGGA 0.498000 44 63 0 0 1 0 0 MMP17 4326 broad.mit.edu 37 12 132334395 132334395 + Missense_Mutation SNP C C T TCGA-DJ-A1QE-01A-21D-A14W-08 TCGA-DJ-A1QE-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94f45d79-f4d0-4652-8cb5-08e2bbac043d 7f5fa0d9-7c50-432d-852e-de290831bc52 g.chr12:132334395C>T uc001ujc.1 + 8 1352 c.1253C>T c.(1252-1254)cCg>cTg p.P418L MMP17_uc001ujd.1_Missense_Mutation_p.P334L NM_016155 NP_057239 Q9ULZ9 MMP17_HUMAN Homo sapiens matrix metallopeptidase 17 (membrane-inserted) (MMP17), mRNA. 418 Hemopexin-like 2. proteolysis anchored to membrane|integral to plasma membrane|proteinaceous extracellular matrix calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding endometrium(1)|large_intestine(3)|lung(1) 5 all_neural(191;0.0982)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.82e-07)|Epithelial(86;1.51e-06)|all cancers(50;2.35e-05) GAAGGATACCCGCGCCCCGTC 0.617000 5 80 0 0 1 0 0 ITGA3 3675 broad.mit.edu 37 17 48156258 48156258 + Missense_Mutation SNP G G A TCGA-DJ-A1QE-01A-21D-A14W-08 TCGA-DJ-A1QE-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94f45d79-f4d0-4652-8cb5-08e2bbac043d 7f5fa0d9-7c50-432d-852e-de290831bc52 g.chr17:48156258G>A uc010dbm.3 + 18 2832 c.2368G>A c.(2368-2370)Gat>Aat p.D790N ITGA3_uc010dbl.3_Missense_Mutation_p.D790N NM_005501 NP_005492 P26006 ITA3_HUMAN Homo sapiens integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor) (ITGA3), transcript variant b, mRNA. 790 blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|leukocyte migration cell surface|integrin complex protein binding|receptor activity endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2) 31 AACTGTGGAGGATGTAGGAAG 0.517000 42 71 0 0 1 0 0