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 SNRNP35 11066 broad.mit.edu 37 12 123950629 123950629 + Missense_Mutation SNP G G A TCGA-DJ-A1QH-01A-21D-A14W-08 TCGA-DJ-A1QH-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41addb07-cde1-4a1c-934e-15aa3627f7e4 54ca3f7a-ee20-494f-8af5-8724334955e3 g.chr12:123950629G>A ENST00000526639.2 + 2 1121 c.542G>A c.(541-543)cGg>cAg p.R181Q SNRNP35_ENST00000350887.5_Missense_Mutation_p.R181Q|SNRNP35_ENST00000527158.2_Intron|SNRNP35_ENST00000412157.2_Missense_Mutation_p.R186Q NM_022717.2 NP_073208.1 Q16560 U1SBP_HUMAN small nuclear ribonucleoprotein 35kDa (U11/U12) 181 Arg-rich. mRNA processing U12-type spliceosomal complex nucleotide binding|RNA binding NS(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1) 8 GAGGGAAAACGGGAAAGGCGG 0.527000 6 56 0 0 0.029380 0 0 HLA-DOA 3111 broad.mit.edu 37 6 32974902 32974902 + Missense_Mutation SNP C C A TCGA-DJ-A1QH-01A-21D-A14W-08 TCGA-DJ-A1QH-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41addb07-cde1-4a1c-934e-15aa3627f7e4 54ca3f7a-ee20-494f-8af5-8724334955e3 g.chr6:32974902C>A ENST00000229829.5 - 4 779 c.704G>T c.(703-705)gGc>gTc p.G235V HLA-DOA_ENST00000450833.2_Intron NM_002119.3 NP_002110.1 P06340 DOA_HUMAN major histocompatibility complex, class II, DO alpha 235 antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway endosome membrane|integral to membrane|lysosomal membrane|MHC class II protein complex MHC class II receptor activity NS(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(1) 9 GAGGACGGTGCCCACGAGGAA 0.627000 4 77 0.00909568 0.00992256 0.009096 1 0 PPEF1 5475 broad.mit.edu 37 X 18748426 18748426 + Splice_Site SNP G G T TCGA-DJ-A1QH-01A-21D-A14W-08 TCGA-DJ-A1QH-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41addb07-cde1-4a1c-934e-15aa3627f7e4 54ca3f7a-ee20-494f-8af5-8724334955e3 g.chrX:18748426G>T ENST00000361511.4 + 5 668 c.174_splice c.e5+1 p.Q58_splice PPEF1_ENST00000471570.1_3'UTR|PPEF1_ENST00000544635.1_Intron|PPEF1_ENST00000349874.5_Splice_Site_p.Q58_splice|PPEF1_ENST00000543630.1_Splice_Site_p.Q58_splice|PPEF1_ENST00000359763.6_Splice_Site_p.Q58_splice NM_006240.2|NM_152224.1 NP_006231.2|NP_689410.1 O14829 PPE1_HUMAN protein phosphatase, EF-hand calcium binding domain 1 58 detection of stimulus involved in sensory perception|protein dephosphorylation calcium ion binding|iron ion binding|manganese ion binding|protein binding|protein serine/threonine phosphatase activity breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 43 Hepatocellular(33;0.183) GCCAAATGCAGGTCTGTTTTG 0.423000 73 110 9.42754e-34 1.13131e-33 0.139131 1 0 NEMF 9147 broad.mit.edu 37 14 50318332 50318332 + Silent SNP T T C TCGA-DJ-A1QH-01A-21D-A14W-08 TCGA-DJ-A1QH-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41addb07-cde1-4a1c-934e-15aa3627f7e4 54ca3f7a-ee20-494f-8af5-8724334955e3 g.chr14:50318332T>C ENST00000298310.5 - 3 629 c.180A>G c.(178-180)acA>acG p.T60T NEMF_ENST00000546046.1_Silent_p.T60T|NEMF_ENST00000545773.1_Silent_p.T60T|NEMF_ENST00000556672.1_Silent_p.T60T O60524 NEMF_HUMAN nuclear export mediator factor 60 cytoplasm|nucleus breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(13)|liver(1)|lung(9)|prostate(1)|skin(1)|urinary_tract(1) 36 CAAATTCTGTTGTATGAATTC 0.358000 3 47 0 0 0.009096 0 0 FLNC 2318 broad.mit.edu 37 7 128478773 128478773 + Missense_Mutation SNP G G A TCGA-DJ-A1QH-01A-21D-A14W-08 TCGA-DJ-A1QH-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41addb07-cde1-4a1c-934e-15aa3627f7e4 54ca3f7a-ee20-494f-8af5-8724334955e3 g.chr7:128478773G>A ENST00000325888.8 + 8 1588 c.1327G>A c.(1327-1329)Gcc>Acc p.A443T FLNC_ENST00000346177.6_Missense_Mutation_p.A443T NM_001458.4 NP_001449.3 Q14315 FLNC_HUMAN filamin C, gamma 443 cell junction assembly cytoskeleton|cytosol|plasma membrane|sarcomere actin binding biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2) 128 ATACAGACCTGCCATGGAGGG 0.632000 38 90 0 0 0.074837 0 0 MYOM1 8736 broad.mit.edu 37 18 3102502 3102502 + Missense_Mutation SNP G G A TCGA-DJ-A1QH-01A-21D-A14W-08 TCGA-DJ-A1QH-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41addb07-cde1-4a1c-934e-15aa3627f7e4 54ca3f7a-ee20-494f-8af5-8724334955e3 g.chr18:3102502G>A ENST00000400569.3 - 23 3878 c.3545C>T c.(3544-3546)cCa>cTa p.P1182L MYOM1_ENST00000356443.4_Missense_Mutation_p.P1182L|MYOM1_ENST00000261606.7_Missense_Mutation_p.P1086L P52179 MYOM1_HUMAN myomesin 1 1182 Ig-like C2-type 3. striated muscle myosin thick filament structural constituent of muscle NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 77 TTCCAATCGTGGAGAGTCCTC 0.433000 25 110 0 0 0.116897 0 0 OR5B3 441608 broad.mit.edu 37 11 58170795 58170795 + Missense_Mutation SNP G G A TCGA-DJ-A1QH-01A-21D-A14W-08 TCGA-DJ-A1QH-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41addb07-cde1-4a1c-934e-15aa3627f7e4 54ca3f7a-ee20-494f-8af5-8724334955e3 g.chr11:58170795G>A ENST00000309403.2 - 1 87 c.88C>T c.(88-90)Ccc>Tcc p.P30S NM_001005469.1 NP_001005469.1 Q8NH48 OR5B3_HUMAN olfactory receptor, family 5, subfamily B, member 3 30 P -> L (in dbSNP:rs17152661). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(1) 34 Esophageal squamous(5;0.0027) Breast(21;0.0778) TAGATGAAGGGGAACGTTATA 0.398000 5 126 0 0 0.029380 0 0 TMPRSS15 5651 broad.mit.edu 37 21 19770630 19770630 + Silent SNP C C T TCGA-DJ-A1QH-01A-21D-A14W-08 TCGA-DJ-A1QH-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41addb07-cde1-4a1c-934e-15aa3627f7e4 54ca3f7a-ee20-494f-8af5-8724334955e3 g.chr21:19770630C>T ENST00000284885.3 - 2 195 c.162G>A c.(160-162)caG>caA p.Q54Q NM_002772.2 NP_002763.2 P98073 ENTK_HUMAN transmembrane protease, serine 15 54 SEA. proteolysis brush border|integral to membrane scavenger receptor activity|serine-type endopeptidase activity NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 85 CTTCATGACTCTGTCCAAGTG 0.343000 4 67 0 0 0.009096 0 0 CYP4A11 1579 broad.mit.edu 37 1 47402453 47402453 + Missense_Mutation SNP C C A rs144085677 byFrequency TCGA-DJ-A1QH-01A-21D-A14W-08 TCGA-DJ-A1QH-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41addb07-cde1-4a1c-934e-15aa3627f7e4 54ca3f7a-ee20-494f-8af5-8724334955e3 g.chr1:47402453C>A ENST00000310638.4 - 4 424 c.393G>T c.(391-393)ttG>ttT p.L131F CYP4A11_ENST00000371904.4_Missense_Mutation_p.L131F|CYP4A11_ENST00000457840.2_Missense_Mutation_p.L27F|CYP4A11_ENST00000475477.1_5'UTR|CYP4A11_ENST00000371905.1_Missense_Mutation_p.L131F NM_000778.3 NP_000769.2 Q02928 CP4AB_HUMAN cytochrome P450, family 4, subfamily A, polypeptide 11 131 Poly-Leu. long-chain fatty acid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding p.L131F(1) endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2) 36 NADH(DB00157) TCAACAGGAGCAAGCCGTACC 0.532000 4 20 2.80697e-09 3.15785e-09 0.080935 1 0 MTHFD1 4522 broad.mit.edu 37 14 64908830 64908830 + Missense_Mutation SNP C C T TCGA-DJ-A1QH-01A-21D-A14W-08 TCGA-DJ-A1QH-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41addb07-cde1-4a1c-934e-15aa3627f7e4 54ca3f7a-ee20-494f-8af5-8724334955e3 g.chr14:64908830C>T ENST00000555709.1 + 20 2330 c.1943C>T c.(1942-1944)tCc>tTc p.S648F CTD-2555O16.2_ENST00000556640.1_RNA|MTHFD1_ENST00000216605.7_Missense_Mutation_p.S704F|MTHFD1_ENST00000545908.1_Missense_Mutation_p.S704F NM_005956.3 NP_005947.3 P11586 C1TC_HUMAN methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase 648 Formyltetrahydrofolate synthetase. folic acid metabolic process|folic acid-containing compound biosynthetic process|histidine biosynthetic process|methionine biosynthetic process|one-carbon metabolic process|purine nucleotide biosynthetic process cytosol|mitochondrion ATP binding|formate-tetrahydrofolate ligase activity|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase|methylenetetrahydrofolate dehydrogenase (NADP+) activity|protein binding endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2) 30 OV - Ovarian serous cystadenocarcinoma(108;8.7e-12)|all cancers(60;3.29e-11)|BRCA - Breast invasive adenocarcinoma(234;0.0488) NADH(DB00157)|Tetrahydrofolic acid(DB00116) GGCAATTCCTCCATCATTGCA 0.498000 4 46 0 0 0.014758 0 0 TYR 7299 broad.mit.edu 37 11 88911586 88911586 + Silent SNP C C A TCGA-DJ-A1QH-01A-21D-A14W-08 TCGA-DJ-A1QH-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41addb07-cde1-4a1c-934e-15aa3627f7e4 54ca3f7a-ee20-494f-8af5-8724334955e3 g.chr11:88911586C>A ENST00000263321.5 + 1 967 c.465C>A c.(463-465)acC>acA p.T155T TYR_ENST00000526139.1_3'UTR NM_000372.4 NP_000363.1 P14679 TYRO_HUMAN tyrosinase 155 T -> S (in OCA1A). eye pigment biosynthetic process|melanin biosynthetic process from tyrosine|visual perception Golgi-associated vesicle|integral to membrane|lysosome|melanosome membrane|perinuclear region of cytoplasm copper ion binding|monophenol monooxygenase activity|protein heterodimerization activity|protein homodimerization activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 48 Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033) Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157) CCATAGGGACCTATGGCCAAA 0.413000 49 74 8.00217e-19 9.29284e-19 0.139131 1 0 PZP 5858 broad.mit.edu 37 12 9352975 9352975 + Missense_Mutation SNP A A C TCGA-DJ-A1QH-01A-21D-A14W-08 TCGA-DJ-A1QH-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41addb07-cde1-4a1c-934e-15aa3627f7e4 54ca3f7a-ee20-494f-8af5-8724334955e3 g.chr12:9352975A>C ENST00000261336.2 - 7 768 c.740T>G c.(739-741)aTa>aGa p.I247R PZP_ENST00000381997.2_Missense_Mutation_p.I116R NM_002864.2 NP_002855.2 pregnancy-zone protein breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5) 102 ACAGACTGTTATGTTCACTTT 0.313000 7 16 0 0 0.029380 0 0 ASUN 55726 broad.mit.edu 37 12 27089676 27089676 + Missense_Mutation SNP C C T TCGA-DJ-A1QH-01A-21D-A14W-08 TCGA-DJ-A1QH-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41addb07-cde1-4a1c-934e-15aa3627f7e4 54ca3f7a-ee20-494f-8af5-8724334955e3 g.chr12:27089676C>T ENST00000261191.7 - 2 597 c.61G>A c.(61-63)Gca>Aca p.A21T ASUN_ENST00000539625.1_Intron NM_018164.2 NP_060634.2 Q9NVM9 M89BB_HUMAN asunder spermatogenesis regulator 21 cell division|mitosis|regulation of mitotic cell cycle protein binding CAAGATTCTGCCATATAAGGG 0.383000 3 63 0 0 0.115264 0 0 WDPCP 51057 broad.mit.edu 37 2 63631601 63631601 + Silent SNP C C T TCGA-DJ-A1QH-01A-21D-A14W-08 TCGA-DJ-A1QH-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41addb07-cde1-4a1c-934e-15aa3627f7e4 54ca3f7a-ee20-494f-8af5-8724334955e3 g.chr2:63631601C>T ENST00000409120.1 - 4 3991 c.441G>A c.(439-441)aaG>aaA p.K147K WDPCP_ENST00000409199.1_Silent_p.K147K|WDPCP_ENST00000272321.7_Silent_p.K339K|WDPCP_ENST00000398544.3_Silent_p.K180K|WDPCP_ENST00000409835.1_5'UTR|WDPCP_ENST00000409562.3_Silent_p.K339K O95876 FRITZ_HUMAN WD repeat containing planar cell polarity effector 339 cilium morphogenesis|regulation of embryonic cell shape|regulation of protein localization|septin cytoskeleton organization cilium axoneme|cytoplasm|cytoskeleton|plasma membrane central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(19)|ovary(1)|skin(1) 35 AGCTGATGGCCTTTGACTTTA 0.433000 3 95 0 0 0.115264 0 0 YBX2 51087 broad.mit.edu 37 17 7193773 7193773 + Missense_Mutation SNP G G A TCGA-DJ-A1QH-01A-21D-A14W-08 TCGA-DJ-A1QH-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41addb07-cde1-4a1c-934e-15aa3627f7e4 54ca3f7a-ee20-494f-8af5-8724334955e3 g.chr17:7193773G>A ENST00000007699.5 - 5 604 c.541C>T c.(541-543)Cgc>Tgc p.R181C YBX2_ENST00000570627.1_5'UTR NM_015982.3 NP_057066.2 Q9Y2T7 YBOX2_HUMAN Y box binding protein 2 181 regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter|translational attenuation cytoplasm|nucleus DNA binding cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|skin(3) 12 ATGAATCGGCGGGACTTACGT 0.647000 3 55 0 0 0.115264 0 0 GBF1 8729 broad.mit.edu 37 10 104119094 104119094 + Missense_Mutation SNP G G A TCGA-DJ-A1QH-01A-21D-A14W-08 TCGA-DJ-A1QH-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41addb07-cde1-4a1c-934e-15aa3627f7e4 54ca3f7a-ee20-494f-8af5-8724334955e3 g.chr10:104119094G>A ENST00000369983.3 + 11 1339 c.1079G>A c.(1078-1080)tGc>tAc p.C360Y GBF1_ENST00000476019.1_3'UTR 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 1 360 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) TTAGAGGAGTGCACGTCCCCT 0.552000 19 37 0 0 0.069288 0 0 STXBP4 252983 broad.mit.edu 37 17 53063607 53063607 + Silent SNP A A G TCGA-DJ-A1QH-01A-21D-A14W-08 TCGA-DJ-A1QH-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41addb07-cde1-4a1c-934e-15aa3627f7e4 54ca3f7a-ee20-494f-8af5-8724334955e3 g.chr17:53063607A>G ENST00000376352.2 + 3 234 c.27A>G c.(25-27)gtA>gtG p.V9V STXBP4_ENST00000398391.2_5'UTR|STXBP4_ENST00000434978.2_Silent_p.V9V|STXBP4_ENST00000299341.4_5'UTR|STXBP4_ENST00000405898.1_Silent_p.V9V NM_178509.5 NP_848604.3 Q6ZWJ1 STXB4_HUMAN syntaxin binding protein 4 9 cytoplasm calcium ion binding breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(4)|ovary(1)|upper_aerodigestive_tract(2) 19 CTACTGTAGTATCACCCAGTC 0.259000 24 35 0 0 0.116897 0 0 SIM1 6492 broad.mit.edu 37 6 100838751 100838751 + Missense_Mutation SNP T T A TCGA-DJ-A1QH-01A-21D-A14W-08 TCGA-DJ-A1QH-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41addb07-cde1-4a1c-934e-15aa3627f7e4 54ca3f7a-ee20-494f-8af5-8724334955e3 g.chr6:100838751T>A ENST00000369208.3 - 12 2569 c.1787A>T c.(1786-1788)aAt>aTt p.N596I SIM1_ENST00000262901.4_Missense_Mutation_p.N596I P81133 SIM1_HUMAN single-minded family bHLH transcription factor 1 596 Single-minded C-terminal. cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5) 79 all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13) BRCA - Breast invasive adenocarcinoma(108;0.0774) CCCAGCCCCATTAATGGAAGC 0.458000 26 32 0 0 0.083992 0 0 CCDC180 100499483 broad.mit.edu 37 9 100085164 100085164 + Missense_Mutation SNP G G C TCGA-DJ-A1QH-01A-21D-A14W-08 TCGA-DJ-A1QH-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41addb07-cde1-4a1c-934e-15aa3627f7e4 54ca3f7a-ee20-494f-8af5-8724334955e3 g.chr9:100085164G>C ENST00000375202.2 + 26 2693 c.1341G>C c.(1339-1341)aaG>aaC p.K447N CCDC180_ENST00000529487.1_Missense_Mutation_p.K447N|RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000395220.1_Missense_Mutation_p.K546N|CCDC180_ENST00000411667.2_Missense_Mutation_p.K444N|CCDC180_ENST00000357054.1_Missense_Mutation_p.K586N|CCDC180_ENST00000460482.2_3'UTR coiled-coil domain containing 180 TGTATGAGAAGACATGGCAGG 0.532000 12 18 0 0 0.132662 0 0 TRIM32 22954 broad.mit.edu 37 9 119460294 119460294 + Silent SNP C C T TCGA-DJ-A1QH-01A-21D-A14W-08 TCGA-DJ-A1QH-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41addb07-cde1-4a1c-934e-15aa3627f7e4 54ca3f7a-ee20-494f-8af5-8724334955e3 g.chr9:119460294C>T ENST00000450136.1 + 2 434 c.273C>T c.(271-273)ctC>ctT p.L91L ASTN2_ENST00000373996.3_Intron|ASTN2_ENST00000361477.3_Intron|ASTN2_ENST00000361209.2_Intron|TRIM32_ENST00000373983.2_Silent_p.L91L|ASTN2_ENST00000313400.4_Intron NM_001099679.1|NM_012210.3 NP_001093149.1|NP_036342.2 Q13049 TRI32_HUMAN tripartite motif containing 32 91 fat cell differentiation|innate immune response|negative regulation of apoptosis|negative regulation of fibroblast proliferation|positive regulation of cell cycle|positive regulation of cell growth|positive regulation of cell migration|positive regulation of neurogenesis|positive regulation of neuron differentiation|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein catabolic process|positive regulation of proteolysis|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to tumor necrosis factor|response to UV nucleus myosin binding|protein self-association|RNA binding|Tat protein binding|transcription coactivator activity|translation initiation factor binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(2)|urinary_tract(1) 26 CAGCTGGGCTCAGCGAGGCTG 0.582000 31 38 0 0 0.059317 0 0 GLRA4 441509 broad.mit.edu 37 X 102977177 102977177 + Silent SNP A A G TCGA-DJ-A1QH-01A-21D-A14W-08 TCGA-DJ-A1QH-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41addb07-cde1-4a1c-934e-15aa3627f7e4 54ca3f7a-ee20-494f-8af5-8724334955e3 g.chrX:102977177A>G ENST00000372617.4 - 6 1041 c.621T>C c.(619-621)gaT>gaC p.D207D NM_001024452.2 NP_001019623.2 Q5JXX5 GLRA4_HUMAN glycine receptor, alpha 4 207 cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity cervix(1)|endometrium(2)|large_intestine(2)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1) 21 CAGCAGGAGCATCTTCCAGCC 0.537000 9 208 0 0 0.058154 0 0 RP11-798G7.5 0 broad.mit.edu 37 17 43587569 43587569 + RNA SNP G G C rs149697015 by1000genomes TCGA-DJ-A1QH-01A-21D-A14W-08 TCGA-DJ-A1QH-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41addb07-cde1-4a1c-934e-15aa3627f7e4 54ca3f7a-ee20-494f-8af5-8724334955e3 g.chr17:43587569G>C ENST00000253803.2 + 0 267 LRRC37A4P_ENST00000579913.1_RNA aactccgtctgaaaagaaaag 0.443000 3 28 0 0 0.115264 0 0 VEGFA 7422 broad.mit.edu 37 6 43742103 43742103 + Missense_Mutation SNP A A G TCGA-DJ-A1QH-01A-21D-A14W-08 TCGA-DJ-A1QH-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41addb07-cde1-4a1c-934e-15aa3627f7e4 54ca3f7a-ee20-494f-8af5-8724334955e3 g.chr6:43742103A>G ENST00000372067.3 + 2 1126 c.632A>G c.(631-633)gAa>gGa p.E211G VEGFA_ENST00000523873.1_Missense_Mutation_p.E31G|VEGFA_ENST00000457104.2_Missense_Mutation_p.E31G|VEGFA_ENST00000230480.6_Missense_Mutation_p.E3G|VEGFA_ENST00000372077.4_Missense_Mutation_p.E31G|VEGFA_ENST00000523125.1_Missense_Mutation_p.E31G|VEGFA_ENST00000372055.4_Missense_Mutation_p.E211G|VEGFA_ENST00000520948.1_Missense_Mutation_p.E31G|VEGFA_ENST00000425836.2_Missense_Mutation_p.E211G|VEGFA_ENST00000413642.3_Missense_Mutation_p.E211G|VEGFA_ENST00000518689.1_Missense_Mutation_p.E31G|VEGFA_ENST00000523950.1_Missense_Mutation_p.E31G|VEGFA_ENST00000324450.6_Missense_Mutation_p.E211G|VEGFA_ENST00000372064.4_Missense_Mutation_p.E211G|VEGFA_ENST00000518824.1_Missense_Mutation_p.E31G|VEGFA_ENST00000482630.2_Missense_Mutation_p.E211G|VEGFA_ENST00000417285.2_Missense_Mutation_p.E211G NM_001025366.2|NM_001025367.2|NM_001025368.2|NM_001025369.2|NM_001033756.2|NM_001171623.1|NM_001171624.1|NM_001171625.1|NM_001171626.1|NM_001171627.1|NM_001171629.1|NM_003376.5 NP_001020537.2|NP_001020538.2|NP_001020539.2|NP_001020540.2|NP_001028928.1|NP_001165094.1|NP_001165095.1|NP_001165096.1|NP_001165097.1|NP_001165098.1|NP_001165100.1|NP_003367.4 P15692 VEGFA_HUMAN vascular endothelial growth factor A 31 basophil chemotaxis|cellular response to hypoxia|induction of positive chemotaxis|platelet activation|platelet degranulation|platelet-derived growth factor receptor signaling pathway|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of cell adhesion|positive regulation of cell division|positive regulation of endothelial cell proliferation|positive regulation of leukocyte migration|positive regulation of mast cell chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|positive regulation of vascular permeability|regulation of cell shape|vascular endothelial growth factor receptor signaling pathway|vasculogenesis cell surface|extracellular space|membrane|platelet alpha granule lumen cell surface binding|chemoattractant activity|cytokine activity|fibronectin binding|growth factor activity|heparin binding|platelet-derived growth factor receptor binding|protein heterodimerization activity|protein homodimerization activity|vascular endothelial growth factor receptor 1 binding|vascular endothelial growth factor receptor 2 binding|vascular endothelial growth factor receptor binding breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1) 9 all_cancers(18;5.46e-07)|all_epithelial(2;5.96e-08)|Lung NSC(15;0.000157)|all_lung(25;0.000486)|Hepatocellular(11;0.00309) all cancers(41;0.000413)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0742)|OV - Ovarian serous cystadenocarcinoma(102;0.196) Atorvastatin(DB01076)|Bevacizumab(DB00112)|Carvedilol(DB01136)|Ginkgo biloba(DB01381)|Gliclazide(DB01120)|Minocycline(DB01017)|Ranibizumab(DB01270)|Simvastatin(DB00641) CCCATGGCAGAAGGAGGAGGG 0.617000 OREG0017458 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 36 0 0 0.021553 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-DJ-A1QH-01A-21D-A14W-08 TCGA-DJ-A1QH-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41addb07-cde1-4a1c-934e-15aa3627f7e4 54ca3f7a-ee20-494f-8af5-8724334955e3 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 30 36 0 0 0.050027 0 0 RP11-798G7.5 0 broad.mit.edu 37 17 43587576 43587576 + RNA SNP A A G rs145439557 by1000genomes TCGA-DJ-A1QH-01A-21D-A14W-08 TCGA-DJ-A1QH-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41addb07-cde1-4a1c-934e-15aa3627f7e4 54ca3f7a-ee20-494f-8af5-8724334955e3 g.chr17:43587576A>G ENST00000253803.2 + 0 267 LRRC37A4P_ENST00000579913.1_RNA tctgaaaagaaaagaaaaaaa 0.428000 4 33 0 0 0.009096 0 0 OPN4 94233 broad.mit.edu 37 10 88419674 88419674 + Missense_Mutation SNP T T C TCGA-DJ-A1QH-01A-21D-A14W-08 TCGA-DJ-A1QH-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41addb07-cde1-4a1c-934e-15aa3627f7e4 54ca3f7a-ee20-494f-8af5-8724334955e3 g.chr10:88419674T>C ENST00000372071.2 + 7 1083 c.856T>C c.(856-858)Tgc>Cgc p.C286R OPN4_ENST00000241891.5_Missense_Mutation_p.C275R NM_001030015.2 NP_001025186.1 Q9UHM6 OPN4_HUMAN opsin 4 275 phototransduction|protein-chromophore linkage|regulation of circadian rhythm|rhythmic process|visual perception integral to membrane|plasma membrane 11-cis retinal binding|G-protein coupled photoreceptor activity breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(5)|ovary(3) 18 CTTCGGGGCCTGCAAGGGCAA 0.637000 3 51 0 0 0.009096 0 0 MAPKBP1 23005 broad.mit.edu 37 15 42115281 42115281 + Silent SNP C C T TCGA-DJ-A1QH-01A-21D-A14W-08 TCGA-DJ-A1QH-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41addb07-cde1-4a1c-934e-15aa3627f7e4 54ca3f7a-ee20-494f-8af5-8724334955e3 g.chr15:42115281C>T ENST00000457542.2 + 28 3745 c.3459C>T c.(3457-3459)agC>agT p.S1153S MAPKBP1_ENST00000260357.7_Silent_p.S992S|MAPKBP1_ENST00000221214.6_Silent_p.S1036S|MAPKBP1_ENST00000456763.2_Silent_p.S1159S|MAPKBP1_ENST00000514566.1_Intron NM_014994.2 NP_055809.2 O60336 MABP1_HUMAN mitogen-activated protein kinase binding protein 1 1159 breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262) OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225) GCAACCCCAGCCCCCAGCAGG 0.657000 22 28 0 0 0.055883 0 0 S1PR1 1901 broad.mit.edu 37 1 101705451 101705451 + Missense_Mutation SNP C C T TCGA-DJ-A1QH-01A-21D-A14W-08 TCGA-DJ-A1QH-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41addb07-cde1-4a1c-934e-15aa3627f7e4 54ca3f7a-ee20-494f-8af5-8724334955e3 g.chr1:101705451C>T ENST00000305352.6 + 2 1286 c.911C>T c.(910-912)tCc>tTc p.S304F NM_001400.4 NP_001391.2 P21453 S1PR1_HUMAN sphingosine-1-phosphate receptor 1 304 cell adhesion integral to membrane lysosphingolipid and lysophosphatidic acid receptor activity NS(1)|autonomic_ganglia(1)|breast(1)|large_intestine(7)|lung(23)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4) 43 GTGCTCAACTCCGGCACCAAC 0.567000 126 205 0 0 0.139131 0 0 LY75-CD302 0 broad.mit.edu 37 2 160637475 160637477 + In_Frame_Del DEL TTC TTC - TCGA-DJ-A1QH-01A-21D-A14W-08 TCGA-DJ-A1QH-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41addb07-cde1-4a1c-934e-15aa3627f7e4 54ca3f7a-ee20-494f-8af5-8724334955e3 g.chr2:160637475_160637477delTTC ENST00000504764.1 - 36 5161_5163 c.5134_5136delGAA c.(5134-5136)del p.E1712del CD302_ENST00000259053.4_In_Frame_Del_p.E71del|CD302_ENST00000429078.2_In_Frame_Del_p.E71del|LY75_ENST00000554112.1_In_Frame_Del_p.E1712del|LY75_ENST00000553424.1_In_Frame_Del_p.E1656del|LY75-CD302_ENST00000505052.1_In_Frame_Del_p.E1656del|CD302_ENST00000480212.1_5'UTR NM_001198759.1 NP_001185688.1 O60449 LY75_HUMAN 1580 endocytosis|immune response|inflammatory response integral to plasma membrane receptor activity|sugar binding p.E71Q(1) TAAAAGCATTTTCTTCTTCATTA 0.335 28 40 --- --- --- --- DND1 373863 broad.mit.edu 37 5 140052285 140052285 + Frame_Shift_Del DEL T T - TCGA-DJ-A1QH-01A-21D-A14W-08 TCGA-DJ-A1QH-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41addb07-cde1-4a1c-934e-15aa3627f7e4 54ca3f7a-ee20-494f-8af5-8724334955e3 g.chr5:140052285delT ENST00000542735.1 - 3 392 c.349delA c.(349-351)cgfs p.T117fs NM_194249.2 NP_919225.1 Q8IYX4 DND1_HUMAN DND microRNA-mediated repression inhibitor 1 117 RRM 1. multicellular organismal development|negative regulation of gene silencing by miRNA cytoplasm|nucleus AU-rich element binding|nucleotide binding p.T117fs*24(1) central_nervous_system(1)|prostate(4) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TTGTGCAGCGTGGCGATGGCG 0.682 2 4 --- --- --- --- ATN1 1822 broad.mit.edu 37 12 7045484 7045484 + Frame_Shift_Del DEL C C - TCGA-DJ-A1QH-01A-21D-A14W-08 TCGA-DJ-A1QH-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41addb07-cde1-4a1c-934e-15aa3627f7e4 54ca3f7a-ee20-494f-8af5-8724334955e3 g.chr12:7045484delC ENST00000356654.4 + 5 1291 c.1054delC c.(1054-1056)tgfs p.L352fs ATN1_ENST00000396684.2_Frame_Shift_Del_p.L352fs NM_001007026.1 NP_001007027.1 P54259 ATN1_HUMAN atrophin 1 352 cell death|central nervous system development cytoplasm|nucleus protein domain specific binding p.L352V(1) breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 40 GGGCCCAACTCTGGCTCCTTC 0.612 61 122 --- --- --- ---