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 POU2F1 5451 broad.mit.edu 37 1 167334776 167334776 + Missense_Mutation SNP C C A TCGA-DJ-A13V-01A-11D-A10S-08 TCGA-DJ-A13V-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 72d889ce-0e2a-4d0e-8109-e3c9f7983e84 0105ad75-3d9f-4651-8e51-7d405c2acd2f g.chr1:167334776C>A ENST00000367862.5 + 3 402 c.167C>A c.(166-168)gCg>gAg p.A56E POU2F1_ENST00000541643.3_Missense_Mutation_p.A44E|POU2F1_ENST00000420254.3_Missense_Mutation_p.A44E|POU2F1_ENST00000367866.2_Missense_Mutation_p.A67E|POU2F1_ENST00000452019.1_Missense_Mutation_p.A44E|POU2F1_ENST00000429375.2_Missense_Mutation_p.A67E|POU2F1_ENST00000367865.1_3'UTR NM_001198783.1 NP_001185712.1 P14859 PO2F1_HUMAN POU class 2 homeobox 1 44 negative regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter nucleoplasm protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1) 30 ACAGCCCAGGCGCAGGCTTTC 0.483000 3 93 0.00909568 0.0113696 0.009096 1 0 FEZF2 55079 broad.mit.edu 37 3 62355986 62355986 + Silent SNP G G A TCGA-DJ-A13V-01A-11D-A10S-08 TCGA-DJ-A13V-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 72d889ce-0e2a-4d0e-8109-e3c9f7983e84 0105ad75-3d9f-4651-8e51-7d405c2acd2f g.chr3:62355986G>A ENST00000283268.3 - 5 1446 c.1152C>T c.(1150-1152)agC>agT p.S384S FEZF2_ENST00000486811.1_Silent_p.S384S|FEZF2_ENST00000475839.1_Silent_p.S384S NM_018008.3 NP_060478.3 Q8TBJ5 FEZF2_HUMAN FEZ family zinc finger 2 384 transcription, DNA-dependent nucleus zinc ion binding breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|lung(8)|skin(1) 20 Lung SC(41;0.0262) BRCA - Breast invasive adenocarcinoma(55;0.000221)|KIRC - Kidney renal clear cell carcinoma(15;0.00834)|Kidney(15;0.00957) GCTTCTCGCCGCTGTGGGTCA 0.507000 4 175 0 0 0.009096 0 0 LINC00969 0 broad.mit.edu 37 3 195395402 195395402 + RNA SNP C C A rs149044725 by1000genomes TCGA-DJ-A13V-01A-11D-A10S-08 TCGA-DJ-A13V-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 72d889ce-0e2a-4d0e-8109-e3c9f7983e84 0105ad75-3d9f-4651-8e51-7d405c2acd2f g.chr3:195395402C>A ENST00000445430.1 + 0 809 TACGGGCGCACCTACTTGAGC 0.597000 4 43 0.00307968 0.00397378 0.003080 1 0 FRG1B 0 broad.mit.edu 37 20 29625892 29625892 + Missense_Mutation SNP T T C TCGA-DJ-A13V-01A-11D-A10S-08 TCGA-DJ-A13V-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 72d889ce-0e2a-4d0e-8109-e3c9f7983e84 0105ad75-3d9f-4651-8e51-7d405c2acd2f g.chr20:29625892T>C ENST00000278882.3 + 5 516 c.136T>C c.(136-138)Tat>Cat p.Y46H FRG1B_ENST00000439954.2_Missense_Mutation_p.Y51H|FRG1B_ENST00000358464.4_Missense_Mutation_p.Y46H endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GAAATCTGGCTATGGAAAATA 0.348000 3 134 0 0 0.003080 0 0 AC008103.5 0 broad.mit.edu 37 22 18844888 18844888 + RNA SNP A A G TCGA-DJ-A13V-01A-11D-A10S-08 TCGA-DJ-A13V-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 72d889ce-0e2a-4d0e-8109-e3c9f7983e84 0105ad75-3d9f-4651-8e51-7d405c2acd2f g.chr22:18844888A>G ENST00000412938.1 + 0 3138 GCTCACGGAAATACAGCTTCA 0.587000 5 168 0 0 0.014758 0 0 CWF19L1 55280 broad.mit.edu 37 10 101992995 101992995 + Missense_Mutation SNP G G C TCGA-DJ-A13V-01A-11D-A10S-08 TCGA-DJ-A13V-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 72d889ce-0e2a-4d0e-8109-e3c9f7983e84 0105ad75-3d9f-4651-8e51-7d405c2acd2f g.chr10:101992995G>C ENST00000354105.4 - 14 1692 c.1606C>G c.(1606-1608)Ctg>Gtg p.L536V CWF19L1_ENST00000370379.1_Missense_Mutation_p.L251V|CWF19L1_ENST00000478047.1_5'UTR|RP11-316M21.6_ENST00000444359.1_RNA NM_018294.4 NP_060764.3 Q69YN2 C19L1_HUMAN CWF19-like 1, cell cycle control (S. pombe) 536 catalytic activity cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|stomach(2) 17 Colorectal(252;0.117) Epithelial(162;3.78e-10)|all cancers(201;3.1e-08) TAGTCATCCAGAGTAAAGTCA 0.398000 3 150 0 0 0.004672 0 0 SLC18A2 6571 broad.mit.edu 37 10 119003687 119003687 + Silent SNP C C T rs150696989 by1000genomes TCGA-DJ-A13V-01A-11D-A10S-08 TCGA-DJ-A13V-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 72d889ce-0e2a-4d0e-8109-e3c9f7983e84 0105ad75-3d9f-4651-8e51-7d405c2acd2f g.chr10:119003687C>T ENST00000298472.5 + 3 470 c.327C>T c.(325-327)aaC>aaT p.N109N SLC18A2_ENST00000497497.1_3'UTR NM_003054.4 NP_003045.2 Q05940 VMAT2_HUMAN solute carrier family 18 (vesicular monoamine transporter), member 2 109 neurotransmitter secretion clathrin sculpted monoamine transport vesicle membrane|integral to plasma membrane|membrane fraction monoamine transmembrane transporter activity NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16) 29 Colorectal(252;0.19) all cancers(201;0.029) Alseroxylon(DB00386)|Reserpine(DB00206)|Tetrabenazine(DB04844) TGGTGACCAACGCGTCCGCTG 0.517000 4 150 0 0 0.014758 0 0 DNAJC13 23317 broad.mit.edu 37 3 132196865 132196865 + Missense_Mutation SNP A A C TCGA-DJ-A13V-01A-11D-A10S-08 TCGA-DJ-A13V-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 72d889ce-0e2a-4d0e-8109-e3c9f7983e84 0105ad75-3d9f-4651-8e51-7d405c2acd2f g.chr3:132196865A>C ENST00000260818.6 + 24 2838 c.2590A>C c.(2590-2592)Acc>Ccc p.T864P NM_015268.3 NP_056083.3 O75165 DJC13_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 13 864 heat shock protein binding breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1) 34 CTTCTTGCTCACCCCAAAAGT 0.328000 67 69 0 0 0.014410 0 0 EPPK1 83481 broad.mit.edu 37 8 144945212 144945212 + Missense_Mutation SNP C C T TCGA-DJ-A13V-01A-11D-A10S-08 TCGA-DJ-A13V-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 72d889ce-0e2a-4d0e-8109-e3c9f7983e84 0105ad75-3d9f-4651-8e51-7d405c2acd2f g.chr8:144945212C>T ENST00000525985.1 - 2 2281 c.2210G>A c.(2209-2211)cGc>cAc p.R737H P58107 EPIPL_HUMAN epiplakin 1 737 cytoplasm|cytoskeleton protein binding|structural molecule activity NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) CACGGGCACGCGGTGGCTGTG 0.662000 4 159 0 0 0.009096 0 0 SPTAN1 6709 broad.mit.edu 37 9 131339474 131339474 + Silent SNP C C T TCGA-DJ-A13V-01A-11D-A10S-08 TCGA-DJ-A13V-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 72d889ce-0e2a-4d0e-8109-e3c9f7983e84 0105ad75-3d9f-4651-8e51-7d405c2acd2f g.chr9:131339474C>T ENST00000372739.3 + 7 962 c.852C>T c.(850-852)ggC>ggT p.G284G SPTAN1_ENST00000372731.4_Silent_p.G284G|SPTAN1_ENST00000358161.5_Silent_p.G284G NM_001130438.2 NP_001123910.1 Q13813 SPTA2_HUMAN spectrin, alpha, non-erythrocytic 1 284 actin filament capping|axon guidance|cellular component disassembly involved in apoptosis cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton p.G284G(1) NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 87 ATGATTTTGGCCGAGACCTGG 0.483000 4 236 0 0 0.014758 0 0 CDKL2 8999 broad.mit.edu 37 4 76522210 76522210 + Missense_Mutation SNP C C T TCGA-DJ-A13V-01A-11D-A10S-08 TCGA-DJ-A13V-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 72d889ce-0e2a-4d0e-8109-e3c9f7983e84 0105ad75-3d9f-4651-8e51-7d405c2acd2f g.chr4:76522210C>T ENST00000429927.2 - 9 1934 c.1231G>A c.(1231-1233)Gca>Aca p.A411T CDKL2_ENST00000307465.4_Missense_Mutation_p.A411T NM_003948.3 NP_003939.1 Q92772 CDKL2_HUMAN cyclin-dependent kinase-like 2 (CDC2-related kinase) 411 A -> V (in dbSNP:rs56231363). sex differentiation|signal transduction cytoplasm|nucleus ATP binding|cyclin-dependent protein kinase activity breast(3)|endometrium(1)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(2)|stomach(2) 22 Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122) GGGGGAATTGCCACGCTTGGA 0.463000 5 222 0 0 0.014758 0 0 ALOXE3 59344 broad.mit.edu 37 17 8012504 8012504 + Missense_Mutation SNP G G A TCGA-DJ-A13V-01A-11D-A10S-08 TCGA-DJ-A13V-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 72d889ce-0e2a-4d0e-8109-e3c9f7983e84 0105ad75-3d9f-4651-8e51-7d405c2acd2f g.chr17:8012504G>A ENST00000380149.1 - 11 2048 c.2018C>T c.(2017-2019)gCg>gTg p.A673V ALOXE3_ENST00000318227.3_Missense_Mutation_p.A649V|ALOXE3_ENST00000448843.2_Missense_Mutation_p.A517V Q9BYJ1 LOXE3_HUMAN arachidonate lipoxygenase 3 517 Lipoxygenase. leukotriene biosynthetic process iron ion binding|lipoxygenase activity breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4) 31 CTCAATGGCCGCCCAGATCTT 0.652000 38 38 0 0 0.036044 0 0 PITPNA 5306 broad.mit.edu 37 17 1437423 1437423 + Missense_Mutation SNP C C T TCGA-DJ-A13V-01A-11D-A10S-08 TCGA-DJ-A13V-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 72d889ce-0e2a-4d0e-8109-e3c9f7983e84 0105ad75-3d9f-4651-8e51-7d405c2acd2f g.chr17:1437423C>T ENST00000313486.7 - 10 993 c.738G>A c.(736-738)atG>atA p.M246I PITPNA_ENST00000539476.1_Missense_Mutation_p.M246I NM_006224.3 NP_006215.1 Q00169 PIPNA_HUMAN phosphatidylinositol transfer protein, alpha 246 axon guidance|lipid metabolic process|visual perception cytoplasm phosphatidylcholine transmembrane transporter activity|phosphatidylinositol transporter activity|protein binding central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1) 7 UCEC - Uterine corpus endometrioid carcinoma (25;0.0845) TCTCTTCTTCCATCCTTCGAA 0.483000 5 349 0 0 0.021553 0 0 APBA3 9546 broad.mit.edu 37 19 3760113 3760113 + Missense_Mutation SNP C C A TCGA-DJ-A13V-01A-11D-A10S-08 TCGA-DJ-A13V-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 72d889ce-0e2a-4d0e-8109-e3c9f7983e84 0105ad75-3d9f-4651-8e51-7d405c2acd2f g.chr19:3760113C>A ENST00000316757.3 - 2 350 c.150G>T c.(148-150)atG>atT p.M50I NM_004886.3 NP_004877.1 O96018 APBA3_HUMAN amyloid beta (A4) precursor protein-binding, family A, member 3 50 intracellular signal transduction|protein transport intracellular|membrane protein binding endometrium(1)|large_intestine(1)|skin(1) 3 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00467)|STAD - Stomach adenocarcinoma(1328;0.18) CATCAAGTTCCATCCGACTGA 0.632000 4 132 0.014758 0.0178885 0.014758 1 0 IGHV3-43 0 broad.mit.edu 37 14 106926482 106926482 + RNA SNP T T C TCGA-DJ-A13V-01A-11D-A10S-08 TCGA-DJ-A13V-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 72d889ce-0e2a-4d0e-8109-e3c9f7983e84 0105ad75-3d9f-4651-8e51-7d405c2acd2f g.chr14:106926482T>C ENST00000434710.1 - 0 139 CCAGCTGCACTTCACACTGGA 0.527000 3 178 0 0 0.004672 0 0 OR4K5 79317 broad.mit.edu 37 14 20388874 20388874 + Missense_Mutation SNP G G A TCGA-DJ-A13V-01A-11D-A10S-08 TCGA-DJ-A13V-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 72d889ce-0e2a-4d0e-8109-e3c9f7983e84 0105ad75-3d9f-4651-8e51-7d405c2acd2f g.chr14:20388874G>A ENST00000315915.4 + 1 134 c.109G>A c.(109-111)Gtc>Atc p.V37I NM_001005483.1 NP_001005483.1 Q8NGD3 OR4K5_HUMAN olfactory receptor, family 4, subfamily K, member 5 37 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1) 47 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) GTTGTATACAGTCATTGTGCT 0.408000 5 227 0 0 0.029380 0 0 MUC16 94025 broad.mit.edu 37 19 8987282 8987282 + Silent SNP C C T rs150582315 by1000genomes TCGA-DJ-A13V-01A-11D-A10S-08 TCGA-DJ-A13V-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 72d889ce-0e2a-4d0e-8109-e3c9f7983e84 0105ad75-3d9f-4651-8e51-7d405c2acd2f g.chr19:8987282C>T ENST00000397910.4 - 68 42008 c.41805G>A c.(41803-41805)ctG>ctA p.L13935L MUC16_ENST00000380951.5_Silent_p.L576L NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 13960 Missing (in Ref. 3; AAK74120). 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 CCATGTAGCGCAGGTTGTTGA 0.597000 13 47 0 0 0.016723 0 0 CDH8 1006 broad.mit.edu 37 16 62055204 62055204 + Missense_Mutation SNP G G C TCGA-DJ-A13V-01A-11D-A10S-08 TCGA-DJ-A13V-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 72d889ce-0e2a-4d0e-8109-e3c9f7983e84 0105ad75-3d9f-4651-8e51-7d405c2acd2f g.chr16:62055204G>C ENST00000577390.1 - 2 1058 c.104C>G c.(103-105)tCt>tGt p.S35C CDH8_ENST00000299345.6_Missense_Mutation_p.S35C|CDH8_ENST00000584337.1_Missense_Mutation_p.S35C|CDH8_ENST00000577730.1_Missense_Mutation_p.S35C NM_001796.4 NP_001787.2 P55286 CADH8_HUMAN cadherin 8, type 2 35 adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4) 112 Ovarian(137;0.0799)|Melanoma(118;0.16) UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249) TAAAACTTGAGACTGATTCAT 0.438000 4 85 0 0 0.009096 0 0 KRTAP10-1 386677 broad.mit.edu 37 21 45959307 45959307 + Missense_Mutation SNP C C T TCGA-DJ-A13V-01A-11D-A10S-08 TCGA-DJ-A13V-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 72d889ce-0e2a-4d0e-8109-e3c9f7983e84 0105ad75-3d9f-4651-8e51-7d405c2acd2f g.chr21:45959307C>T ENST00000400375.1 - 1 771 c.727G>A c.(727-729)Gcc>Acc p.A243T TSPEAR_ENST00000397916.1_Intron|TSPEAR_ENST00000323084.4_Intron NM_198691.2 NP_941964.2 P60331 KR101_HUMAN keratin associated protein 10-1 243 24 X 5 AA repeats of C-C-X(3). keratin filament breast(1)|central_nervous_system(1)|endometrium(1)|lung(3)|prostate(4)|skin(1) 11 ATACAGCAGGCGGGCCGGCAT 0.706000 33 72 0 0 0.010818 0 0 NUP214 8021 broad.mit.edu 37 9 134019854 134019854 + Silent SNP G G A rs147598578 byFrequency TCGA-DJ-A13V-01A-11D-A10S-08 TCGA-DJ-A13V-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 72d889ce-0e2a-4d0e-8109-e3c9f7983e84 0105ad75-3d9f-4651-8e51-7d405c2acd2f g.chr9:134019854G>A ENST00000359428.5 + 12 1626 c.1482G>A c.(1480-1482)acG>acA p.T494T RP11-544A12.4_ENST00000589540.1_RNA|NUP214_ENST00000411637.2_Silent_p.T494T|RP11-544A12.4_ENST00000415391.2_RNA|RP11-544A12.4_ENST00000588378.1_RNA|RP11-544A12.4_ENST00000587408.1_RNA|RP11-544A12.4_ENST00000587264.1_RNA|NUP214_ENST00000451030.1_Silent_p.T494T|RP11-544A12.4_ENST00000589667.1_RNA|RP11-544A12.4_ENST00000586290.1_RNA|RP11-544A12.4_ENST00000590461.1_RNA P35658 NU214_HUMAN nucleoporin 214kDa 494 11 X 5 AA approximate repeats. carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore|nucleoplasm protein binding NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 86 all_hematologic(7;0.0028) Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256) CATCTGCTACGGTCACTGGGG 0.542000 T """DEK, SET, ABL1""" """AML, T-ALL""" 7 332 0 0 0.003080 0 0 RUSC1 23623 broad.mit.edu 37 1 155296548 155296548 + Missense_Mutation SNP C C T TCGA-DJ-A13V-01A-11D-A10S-08 TCGA-DJ-A13V-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 72d889ce-0e2a-4d0e-8109-e3c9f7983e84 0105ad75-3d9f-4651-8e51-7d405c2acd2f g.chr1:155296548C>T ENST00000368352.5 + 8 2190 c.2039C>T c.(2038-2040)gCc>gTc p.A680V RUSC1_ENST00000368347.4_Missense_Mutation_p.A270V|RUSC1_ENST00000462780.1_3'UTR|RUSC1_ENST00000368349.4_Missense_Mutation_p.A211V|RUSC1_ENST00000292254.4_Missense_Mutation_p.A211V|RUSC1_ENST00000368354.3_Intron NM_001105203.1 NP_001098673.1 Q9BVN2 RUSC1_HUMAN RUN and SH3 domain containing 1 680 cytoplasm|nucleolus SH3/SH2 adaptor activity breast(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(2)|skin(1)|urinary_tract(1) 21 Hepatocellular(266;0.0877)|all_hematologic(923;0.145) Epithelial(20;1.55e-10)|all cancers(21;4.15e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127) CAGGCCCCTGCCCCTCCAGGC 0.652000 4 119 0 0 0.014758 0 0 MCF2L2 23101 broad.mit.edu 37 3 182937644 182937644 + Splice_Site SNP C C T TCGA-DJ-A13V-01A-11D-A10S-08 TCGA-DJ-A13V-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 72d889ce-0e2a-4d0e-8109-e3c9f7983e84 0105ad75-3d9f-4651-8e51-7d405c2acd2f g.chr3:182937644C>T ENST00000328913.3 - 21 2667 c.2370_splice c.e21+1 p.K790_splice MCF2L2_ENST00000473233.1_Splice_Site_p.K790_splice NM_015078.2 NP_055893.2 Q86YR7 MF2L2_HUMAN MCF.2 cell line derived transforming sequence-like 2 790 DH. regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 72 all_cancers(143;1.26e-12)|Ovarian(172;0.0355) all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21) TATTGAGTACCTTAGCCGAGC 0.363000 36 74 0 0 0.019004 0 0 LINC00969 0 broad.mit.edu 37 3 195395399 195395399 + RNA SNP G G A rs62287990 by1000genomes TCGA-DJ-A13V-01A-11D-A10S-08 TCGA-DJ-A13V-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 72d889ce-0e2a-4d0e-8109-e3c9f7983e84 0105ad75-3d9f-4651-8e51-7d405c2acd2f g.chr3:195395399G>A ENST00000445430.1 + 0 806 GGCTACGGGCGCACCTACTTG 0.607000 3 40 0 0 0.004482 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-DJ-A13V-01A-11D-A10S-08 TCGA-DJ-A13V-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 72d889ce-0e2a-4d0e-8109-e3c9f7983e84 0105ad75-3d9f-4651-8e51-7d405c2acd2f 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 33 76 0 0 0.013726 0 0 FAM133A 286499 broad.mit.edu 37 X 92964801 92964801 + Missense_Mutation SNP G G T TCGA-DJ-A13V-01A-11D-A10S-08 TCGA-DJ-A13V-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 72d889ce-0e2a-4d0e-8109-e3c9f7983e84 0105ad75-3d9f-4651-8e51-7d405c2acd2f g.chrX:92964801G>T ENST00000538690.1 + 5 944 c.383G>T c.(382-384)gGa>gTa p.G128V FAM133A_ENST00000355813.5_Missense_Mutation_p.G128V|FAM133A_ENST00000322139.4_Missense_Mutation_p.G128V|FAM133A_ENST00000332647.4_Missense_Mutation_p.G128V NM_001171110.1 NP_001164581.1 Q8N9E0 F133A_HUMAN family with sequence similarity 133, member A 128 Lys-rich.|Ser-rich. breast(2)|endometrium(2)|large_intestine(8)|lung(7)|upper_aerodigestive_tract(1) 20 AAGAAACAAGGAAAAAGGAGA 0.368000 6 19 0.0215528 0.0253562 0.021553 1 0 PLCH1 23007 broad.mit.edu 37 3 155314069 155314069 + Missense_Mutation SNP G G A TCGA-DJ-A13V-01A-11D-A10S-08 TCGA-DJ-A13V-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 72d889ce-0e2a-4d0e-8109-e3c9f7983e84 0105ad75-3d9f-4651-8e51-7d405c2acd2f g.chr3:155314069G>A ENST00000460012.1 - 3 445 c.88C>T c.(88-90)Cgg>Tgg p.R30W PLCH1_ENST00000494598.1_Missense_Mutation_p.R48W|PLCH1_ENST00000414191.1_Missense_Mutation_p.R30W|PLCH1_ENST00000334686.6_Missense_Mutation_p.R30W|PLCH1_ENST00000340059.7_Missense_Mutation_p.R48W|PLCH1_ENST00000447496.2_Missense_Mutation_p.R48W Q4KWH8 PLCH1_HUMAN phospholipase C, eta 1 48 PH. lipid catabolic process|phosphatidylinositol-mediated signaling membrane calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4) 107 Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114) AGGCGTGTCCGGTGCTCATCC 0.488000 4 245 0 0 0.009096 0 0 NRIP1 8204 broad.mit.edu 37 21 16338129 16338129 + Silent SNP T T C TCGA-DJ-A13V-01A-11D-A10S-08 TCGA-DJ-A13V-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 72d889ce-0e2a-4d0e-8109-e3c9f7983e84 0105ad75-3d9f-4651-8e51-7d405c2acd2f g.chr21:16338129T>C ENST00000400202.1 - 3 3097 c.2385A>G c.(2383-2385)ttA>ttG p.L795L NRIP1_ENST00000400199.1_Silent_p.L795L|NRIP1_ENST00000318948.4_Silent_p.L795L P48552 NRIP1_HUMAN nuclear receptor interacting protein 1 795 Repression domain 3. androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent androgen receptor binding|estrogen receptor binding|glucocorticoid receptor binding|transcription coactivator activity|transcription corepressor activity cervix(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(13)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 39 Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24) CGGACACTGGTAAGGCAGGTG 0.448000 5 91 0 0 0.029380 0 0 TECTA 7007 broad.mit.edu 37 11 120989075 120989075 + Missense_Mutation SNP G G A TCGA-DJ-A13V-01A-11D-A10S-08 TCGA-DJ-A13V-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 72d889ce-0e2a-4d0e-8109-e3c9f7983e84 0105ad75-3d9f-4651-8e51-7d405c2acd2f g.chr11:120989075G>A ENST00000392793.1 + 7 1122 c.851G>A c.(850-852)cGc>cAc p.R284H TECTA_ENST00000264037.2_Missense_Mutation_p.R284H O75443 TECTA_HUMAN tectorin alpha 284 VWFC. R -> H (in a breast cancer sample; somatic mutation). cell-matrix adhesion|sensory perception of sound anchored to membrane|plasma membrane|proteinaceous extracellular matrix p.R284H(1) TECTA/TBCEL(2) NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 135 all_hematologic(175;0.208) Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166) GTCAAGTGCCGCTGTCTGGAT 0.507000 8 77 0 0 0.003080 0 0 RRN3P1 0 broad.mit.edu 37 16 21809170 21809170 + RNA SNP T T C TCGA-DJ-A13V-01A-11D-A10S-08 TCGA-DJ-A13V-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 72d889ce-0e2a-4d0e-8109-e3c9f7983e84 0105ad75-3d9f-4651-8e51-7d405c2acd2f g.chr16:21809170T>C ENST00000546471.1 - 0 2025 ACTCTGAGGATACTGCAAACC 0.338000 35 44 0 0 0.015359 0 0 ANKRD36BP2 0 broad.mit.edu 37 2 89083951 89083951 + RNA DEL A A - rs111608027 TCGA-DJ-A13V-01A-11D-A10S-08 TCGA-DJ-A13V-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 72d889ce-0e2a-4d0e-8109-e3c9f7983e84 0105ad75-3d9f-4651-8e51-7d405c2acd2f g.chr2:89083951delA ENST00000393525.3 + 0 576 CTTTTTTTTCAGTGTATTTCT 0.348 2 4 --- --- --- --- OTOP1 133060 broad.mit.edu 37 4 4228274 4228282 + In_Frame_Del DEL CCACAGCAG CCACAGCAG - rs111245977 TCGA-DJ-A13V-01A-11D-A10S-08 TCGA-DJ-A13V-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 72d889ce-0e2a-4d0e-8109-e3c9f7983e84 0105ad75-3d9f-4651-8e51-7d405c2acd2f g.chr4:4228274_4228282delCCACAGCAG ENST00000296358.4 - 1 334_342 c.310_318delCTGCTGTGG c.(310-318)del p.LLW104del NM_177998.1 NP_819056.1 Q7RTM1 OTOP1_HUMAN otopetrin 1 104 biomineral tissue development extracellular space|integral to membrane p.L104_W106delLLW(1) NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 34 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) ACCACAGCATCCACAGCAGCTGCAGCAGC 0.727 7 22 --- --- --- --- TBC1D3P2 0 broad.mit.edu 37 17 60347260 60347260 + RNA DEL T T - rs71816198 TCGA-DJ-A13V-01A-11D-A10S-08 TCGA-DJ-A13V-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 72d889ce-0e2a-4d0e-8109-e3c9f7983e84 0105ad75-3d9f-4651-8e51-7d405c2acd2f g.chr17:60347260delT ENST00000581291.1 - 0 581 breast(2)|kidney(1)|lung(2) 5 CTCTGAATGATTTTTTTTTTT 0.448 3 3 --- --- --- ---