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 TPTE2P6 0 broad.mit.edu 37 13 25168432 25168432 + RNA SNP T T C rs149337771 by1000genomes TCGA-ET-A40Q-01A-11D-A23M-08 TCGA-ET-A40Q-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx dfe288f0-ec44-4a22-8136-fd5ee948f101 bf959b0c-98bf-4bc9-af29-4fed90522963 g.chr13:25168432T>C ENST00000453498.1 + 0 1104 TTGAAACAGCTGGTGTATTAA 0.373000 3 34 0 0 1 0 0 RASA1 5921 broad.mit.edu 37 5 86675610 86675610 + Missense_Mutation SNP T T C TCGA-ET-A40Q-01A-11D-A23M-08 TCGA-ET-A40Q-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx dfe288f0-ec44-4a22-8136-fd5ee948f101 bf959b0c-98bf-4bc9-af29-4fed90522963 g.chr5:86675610T>C ENST00000456692.2 + 19 2130 c.2015T>C c.(2014-2016)tTg>tCg p.L672S RASA1_ENST00000512763.1_Missense_Mutation_p.L682S|RASA1_ENST00000274376.6_Missense_Mutation_p.L849S|RASA1_ENST00000506290.1_Missense_Mutation_p.L683S NM_022650.2 NP_072179.1 P20936 RASA1_HUMAN RAS p21 protein activator (GTPase activating protein) 1 849 C2. cytokinesis|embryo development|intracellular signal transduction|negative regulation of cell-matrix adhesion|negative regulation of neuron apoptosis|negative regulation of Ras protein signal transduction|positive regulation of anti-apoptosis|regulation of actin filament polymerization|regulation of cell shape|regulation of RNA metabolic process|vasculogenesis cytosol|intrinsic to internal side of plasma membrane glycoprotein binding|GTPase binding|potassium channel inhibitor activity|Ras GTPase activator activity|receptor binding NS(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(12)|lung(13)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 48 all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423) OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31) ACACACCTATTGAACATACTT 0.308000 11 56 0 0 1 0 0 TCN2 6948 broad.mit.edu 37 22 31010337 31010337 + Splice_Site SNP G G A TCGA-ET-A40Q-01A-11D-A23M-08 TCGA-ET-A40Q-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx dfe288f0-ec44-4a22-8136-fd5ee948f101 bf959b0c-98bf-4bc9-af29-4fed90522963 g.chr22:31010337G>A ENST00000215838.3 + 4 923 c.427_splice c.e4-1 p.G143_splice TCN2_ENST00000405742.3_Splice_Site_p.G139_splice|TCN2_ENST00000407817.3_Splice_Site_p.W116_splice P20062 TCO2_HUMAN transcobalamin II 143 cobalamin metabolic process|cobalamin transport|cobalt ion transport extracellular space cobalamin binding p.G143G(1) central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|prostate(2)|urinary_tract(1) 22 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) CCCTCTCAGGGCATGATCACA 0.622000 6 37 0 0 1 0 0 SRP14 6727 broad.mit.edu 37 15 40328597 40328597 + Silent SNP T T G TCGA-ET-A40Q-01A-11D-A23M-08 TCGA-ET-A40Q-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx dfe288f0-ec44-4a22-8136-fd5ee948f101 bf959b0c-98bf-4bc9-af29-4fed90522963 g.chr15:40328597T>G ENST00000267884.6 - 5 419 c.348A>C c.(346-348)gcA>gcC p.A116A SRP14_ENST00000560773.1_Silent_p.A36A|SRP14_ENST00000558720.1_Silent_p.A36A|SRP14_ENST00000558527.1_5'UTR NM_003134.4 NP_003125.3 P37108 SRP14_HUMAN signal recognition particle 14kDa (homologous Alu RNA binding protein) 116 Ala/Thr-rich. negative regulation of translational elongation|response to drug|SRP-dependent cotranslational protein targeting to membrane cytosol|signal recognition particle, endoplasmic reticulum targeting 7S RNA binding|endoplasmic reticulum signal peptide binding|protein binding endometrium(1)|skin(1)|upper_aerodigestive_tract(1) 3 all_cancers(109;7.56e-18)|all_epithelial(112;4.02e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;1.84e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0505) ctgcggcaggtgctgctgctg 0.483000 6 61 0 0 1 0 0 HBM 3042 broad.mit.edu 37 16 216306 216306 + Silent SNP G G A TCGA-ET-A40Q-01A-11D-A23M-08 TCGA-ET-A40Q-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx dfe288f0-ec44-4a22-8136-fd5ee948f101 bf959b0c-98bf-4bc9-af29-4fed90522963 g.chr16:216306G>A ENST00000356815.3 + 2 152 c.132G>A c.(130-132)ccG>ccA p.P44P HBM_ENST00000472539.1_3'UTR NM_001003938.3 NP_001003938.1 Q6B0K9 HBM_HUMAN hemoglobin, mu 44 hemoglobin complex heme binding|oxygen binding|oxygen transporter activity all_cancers(16;1.62e-06)|all_epithelial(16;4.01e-06)|Hepatocellular(16;0.000325)|Lung NSC(18;0.0104)|all_lung(18;0.0239) TCTACTTCCCGCACCTGAGCG 0.701000 3 17 0 0 1 0 0 KIAA0907 22889 broad.mit.edu 37 1 155887393 155887393 + Missense_Mutation SNP T T G TCGA-ET-A40Q-01A-11D-A23M-08 TCGA-ET-A40Q-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx dfe288f0-ec44-4a22-8136-fd5ee948f101 bf959b0c-98bf-4bc9-af29-4fed90522963 g.chr1:155887393T>G ENST00000368320.3 - 11 1362 c.1337A>C c.(1336-1338)cAg>cCg p.Q446P KIAA0907_ENST00000368321.3_Missense_Mutation_p.Q446P Q7Z7F0 K0907_HUMAN KIAA0907 446 Pro-rich. breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1) 21 Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195) OV - Ovarian serous cystadenocarcinoma(3;8.82e-06) gggctggggctggggctgggg 0.567000 9 47 0 0 1 0 0 POLL 27343 broad.mit.edu 37 10 103339245 103339245 + Missense_Mutation SNP G G A TCGA-ET-A40Q-01A-11D-A23M-08 TCGA-ET-A40Q-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx dfe288f0-ec44-4a22-8136-fd5ee948f101 bf959b0c-98bf-4bc9-af29-4fed90522963 g.chr10:103339245G>A ENST00000370162.3 - 9 2187 c.1693C>T c.(1693-1695)Ctc>Ttc p.L565F POLL_ENST00000456836.2_Missense_Mutation_p.L302F|POLL_ENST00000299206.4_Missense_Mutation_p.L565F|POLL_ENST00000370168.3_Missense_Mutation_p.L238F|POLL_ENST00000370158.3_Missense_Mutation_p.L290F|DPCD_ENST00000416979.2_Intron|DPCD_ENST00000470165.1_Intron|POLL_ENST00000370172.1_Missense_Mutation_p.L477F|POLL_ENST00000463515.1_5'UTR|POLL_ENST00000370169.1_Missense_Mutation_p.L565F|POLL_ENST00000339310.3_Missense_Mutation_p.L288F NM_001174084.1|NM_001174085.1|NM_013274.3 NP_001167555.1|NP_001167556.1|NP_037406.1 Q9UGP5 DPOLL_HUMAN polymerase (DNA directed), lambda 565 DNA replication|nucleotide-excision repair|somatic hypermutation of immunoglobulin genes nucleus DNA binding|DNA-directed DNA polymerase activity|lyase activity|metal ion binding biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(2) 19 Colorectal(252;0.234) Epithelial(162;1.55e-08)|all cancers(201;6.64e-07) CGGTAGGGGAGGCCTAAGAGC 0.642000 DNA polymerases (catalytic subunits) 20 49 0 0 1 0 0 ARSG 22901 broad.mit.edu 37 17 66347794 66347794 + Missense_Mutation SNP G G A TCGA-ET-A40Q-01A-11D-A23M-08 TCGA-ET-A40Q-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx dfe288f0-ec44-4a22-8136-fd5ee948f101 bf959b0c-98bf-4bc9-af29-4fed90522963 g.chr17:66347794G>A ENST00000448504.2 + 5 1329 c.533G>A c.(532-534)tGt>tAt p.C178Y ARSG_ENST00000582154.1_3'UTR|ARSG_ENST00000452479.2_Missense_Mutation_p.C14Y NM_014960.4 NP_055775.2 Q96EG1 ARSG_HUMAN arylsulfatase G 178 sulfur compound metabolic process endoplasmic reticulum|extracellular space|lysosome arylsulfatase activity|metal ion binding NS(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1) 26 BRCA - Breast invasive adenocarcinoma(8;5.34e-07)|LUSC - Lung squamous cell carcinoma(166;0.24) CACCCTCCTTGTCCAGCGTGT 0.483000 50 87 0 0 1 0 0 ARMC12 221481 broad.mit.edu 37 6 35716418 35716418 + Missense_Mutation SNP C C T TCGA-ET-A40Q-01A-11D-A23M-08 TCGA-ET-A40Q-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx dfe288f0-ec44-4a22-8136-fd5ee948f101 bf959b0c-98bf-4bc9-af29-4fed90522963 g.chr6:35716418C>T ENST00000373866.3 + 6 816 c.794C>T c.(793-795)cCc>cTc p.P265L ARMC12_ENST00000373869.3_Missense_Mutation_p.P255L|ARMC12_ENST00000288065.2_Missense_Mutation_p.P292L Q5T9G4 CF081_HUMAN armadillo repeat containing 12 265 binding CGGAACGCACCCCACTACCAC 0.562000 31 77 0 0 1 0 0 ZNF492 57615 broad.mit.edu 37 19 22847457 22847457 + Missense_Mutation SNP G G C TCGA-ET-A40Q-01A-11D-A23M-08 TCGA-ET-A40Q-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx dfe288f0-ec44-4a22-8136-fd5ee948f101 bf959b0c-98bf-4bc9-af29-4fed90522963 g.chr19:22847457G>C ENST00000456783.2 + 4 1230 c.986G>C c.(985-987)aGa>aCa p.R329T NM_020855.2 NP_065906.1 Q9P255 ZN492_HUMAN zinc finger protein 492 329 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.R329I(1) endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244) ACACATAAGAGAATTCATTCT 0.378000 5 33 0 0 1 0 0 TM7SF2 7108 broad.mit.edu 37 11 64880883 64880883 + Missense_Mutation SNP T T G TCGA-ET-A40Q-01A-11D-A23M-08 TCGA-ET-A40Q-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx dfe288f0-ec44-4a22-8136-fd5ee948f101 bf959b0c-98bf-4bc9-af29-4fed90522963 g.chr11:64880883T>G ENST00000279263.7 + 4 658 c.496T>G c.(496-498)Tca>Gca p.S166A TM7SF2_ENST00000540748.1_Missense_Mutation_p.S50A|TM7SF2_ENST00000531029.1_3'UTR|TM7SF2_ENST00000345348.5_Missense_Mutation_p.S166A NM_003273.2 NP_003264.2 O76062 ERG24_HUMAN transmembrane 7 superfamily member 2 166 cholesterol biosynthetic process endoplasmic reticulum membrane|integral to plasma membrane delta14-sterol reductase activity lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 TGGGGGGAACTCAGGTGAGAG 0.567000 OREG0021072 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 41 145 0 0 1 0 0 PSMC4 5704 broad.mit.edu 37 19 40480666 40480666 + Missense_Mutation SNP G G A TCGA-ET-A40Q-01A-11D-A23M-08 TCGA-ET-A40Q-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx dfe288f0-ec44-4a22-8136-fd5ee948f101 bf959b0c-98bf-4bc9-af29-4fed90522963 g.chr19:40480666G>A ENST00000157812.2 + 6 802 c.604G>A c.(604-606)Gtc>Atc p.V202I PSMC4_ENST00000455878.2_Missense_Mutation_p.V171I NM_006503.3|NM_153001.2 NP_006494.1|NP_694546.1 P43686 PRS6B_HUMAN proteasome (prosome, macropain) 26S subunit, ATPase, 4 202 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction mitochondrion|nucleus|proteasome complex ATP binding|ATPase activity|protein binding autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1) 19 all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925) CCCCCGAGGCGTCCTCATGTA 0.622000 24 54 0 0 1 0 0 TENC1 23371 broad.mit.edu 37 12 53457578 53457578 + Missense_Mutation SNP G G A TCGA-ET-A40Q-01A-11D-A23M-08 TCGA-ET-A40Q-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx dfe288f0-ec44-4a22-8136-fd5ee948f101 bf959b0c-98bf-4bc9-af29-4fed90522963 g.chr12:53457578G>A ENST00000314250.6 + 29 4432 c.4142G>A c.(4141-4143)tGt>tAt p.C1381Y TENC1_ENST00000546602.1_Missense_Mutation_p.C1284Y|TENC1_ENST00000379902.3_Missense_Mutation_p.C1257Y|TENC1_ENST00000314276.3_Missense_Mutation_p.C1391Y|TENC1_ENST00000552570.1_Missense_Mutation_p.C1379Y|TENC1_ENST00000549700.1_Missense_Mutation_p.C1316Y|TENC1_ENST00000451358.1_Missense_Mutation_p.C1371Y NM_170754.2 NP_736610.2 Q63HR2 TENC1_HUMAN tensin like C1 domain containing phosphatase (tensin 2) 1381 intracellular signal transduction|negative regulation of cell proliferation focal adhesion metal ion binding|phosphoprotein phosphatase activity|protein binding central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(19)|ovary(1)|pancreas(1)|stomach(3) 34 GAGAATGTGTGTCACCTCTTT 0.537000 85 139 0 0 1 0 0 CCBL2 56267 broad.mit.edu 37 1 89427829 89427829 + Splice_Site SNP C C T TCGA-ET-A40Q-01A-11D-A23M-08 TCGA-ET-A40Q-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx dfe288f0-ec44-4a22-8136-fd5ee948f101 bf959b0c-98bf-4bc9-af29-4fed90522963 g.chr1:89427829C>T ENST00000260508.4 - 6 791 c.e6-1 CCBL2_ENST00000370485.2_Splice_Site|CCBL2_ENST00000370491.3_Splice_Site|CCBL2_ENST00000446900.2_Splice_Site NM_001008661.2 NP_001008661.1 Q6YP21 KAT3_HUMAN cysteine conjugate-beta lyase 2 biosynthetic process|kynurenine metabolic process|tryptophan catabolic process cysteine-S-conjugate beta-lyase activity|kynurenine-glyoxylate transaminase activity|kynurenine-oxoglutarate transaminase activity|pyridoxal phosphate binding endometrium(3)|kidney(4)|large_intestine(2)|lung(4)|ovary(2)|skin(2)|soft_tissue(1) 18 Lung NSC(277;0.123) all cancers(265;0.0117)|Epithelial(280;0.0341) L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114) TTAGTATGACCTGCAATAAAA 0.403000 24 59 0 0 1 0 0 HSD17B7P2 0 broad.mit.edu 37 10 38654432 38654432 + RNA SNP A A G rs2257765 TCGA-ET-A40Q-01A-11D-A23M-08 TCGA-ET-A40Q-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx dfe288f0-ec44-4a22-8136-fd5ee948f101 bf959b0c-98bf-4bc9-af29-4fed90522963 g.chr10:38654432A>G ENST00000494540.1 + 0 599 NR_003086.1 TCATCTCGCAATGCAAGGAAA 0.453000 5 65 0 0 1 0 0 LL22NC03-80A10.6 0 broad.mit.edu 37 22 22664606 22664606 + RNA SNP A A G TCGA-ET-A40Q-01A-11D-A23M-08 TCGA-ET-A40Q-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx dfe288f0-ec44-4a22-8136-fd5ee948f101 bf959b0c-98bf-4bc9-af29-4fed90522963 g.chr22:22664606A>G ENST00000426066.1 + 0 787 NR_027293.1 GTCTTCATGCAAACTTGGTAT 0.398000 3 25 0 0 1 0 0 CHP1 11261 broad.mit.edu 37 15 41571574 41571574 + Missense_Mutation SNP G G T TCGA-ET-A40Q-01A-11D-A23M-08 TCGA-ET-A40Q-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx dfe288f0-ec44-4a22-8136-fd5ee948f101 bf959b0c-98bf-4bc9-af29-4fed90522963 g.chr15:41571574G>T ENST00000334660.5 + 7 815 c.575G>T c.(574-576)cGa>cTa p.R192L CHP1_ENST00000560397.1_Missense_Mutation_p.R151L|CHP1_ENST00000558351.1_3'UTR NM_007236.4 NP_009167.1 Q99653 CHP1_HUMAN calcineurin-like EF-hand protein 1 192 potassium ion transport|small GTPase mediated signal transduction potassium channel regulator activity ATGAGCATCCGATTTCTTCAC 0.443000 11 49 1.58986e-06 1.76652e-06 1 1 0 CRYAB 1410 broad.mit.edu 37 11 111780950 111780950 + Missense_Mutation SNP G G T TCGA-ET-A40Q-01A-11D-A23M-08 TCGA-ET-A40Q-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx dfe288f0-ec44-4a22-8136-fd5ee948f101 bf959b0c-98bf-4bc9-af29-4fed90522963 g.chr11:111780950G>T ENST00000533971.1 - 2 516 c.425C>A c.(424-426)cCa>cAa p.P142Q CRYAB_ENST00000526180.1_Intron|CRYAB_ENST00000527950.1_Intron|CRYAB_ENST00000227251.3_Intron|CRYAB_ENST00000525823.1_Intron|CRYAB_ENST00000533475.1_Intron|CRYAB_ENST00000533280.1_Intron|CRYAB_ENST00000531198.1_Intron P02511 CRYAB_HUMAN crystallin, alpha B 0 anti-apoptosis|muscle contraction|negative regulation of intracellular transport|protein folding|protein homooligomerization|response to heat cytoplasm|nucleus protein homodimerization activity|structural constituent of eye lens|unfolded protein binding endometrium(1)|large_intestine(1)|lung(2)|skin(4) 8 all_cancers(61;1.26e-15)|all_epithelial(67;9.52e-10)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425) Epithelial(105;3.57e-07)|BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|all cancers(92;6.57e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.051) GTTATGGCTTGGGACTGGAAT 0.418000 5 17 0.000274275 0.000285703 1 1 0 FGD1 2245 broad.mit.edu 37 X 54496615 54496615 + Missense_Mutation SNP G G A rs28935498 TCGA-ET-A40Q-01A-11D-A23M-08 TCGA-ET-A40Q-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx dfe288f0-ec44-4a22-8136-fd5ee948f101 bf959b0c-98bf-4bc9-af29-4fed90522963 g.chrX:54496615G>A ENST00000375135.3 - 4 1668 c.935C>T c.(934-936)cCt>cTt p.P312L NM_004463.2 NP_004454.2 P98174 FGD1_HUMAN FYVE, RhoGEF and PH domain containing 1 312 Pro-rich. P -> L (in non-syndromal X-linked mental retardation; dbSNP:rs28935498). actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|organ morphogenesis|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction cytoskeleton|cytosol|Golgi apparatus|lamellipodium|nucleus|plasma membrane|ruffle metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 39 AGGGGGCCCAGGGCAGAGGCT 0.662000 2 8 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-ET-A40Q-01A-11D-A23M-08 TCGA-ET-A40Q-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx dfe288f0-ec44-4a22-8136-fd5ee948f101 bf959b0c-98bf-4bc9-af29-4fed90522963 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 75 0 0 1 0 0 RP11-417J8.6 0 broad.mit.edu 37 1 142699959 142699960 + RNA INS - - A rs74315780 TCGA-ET-A40Q-01A-11D-A23M-08 TCGA-ET-A40Q-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx dfe288f0-ec44-4a22-8136-fd5ee948f101 bf959b0c-98bf-4bc9-af29-4fed90522963 g.chr1:142699959_142699960insA ENST00000369381.2 - 0 2077 tatatatatatatatatCCAAA 0.257 2 4 --- --- --- --- ETAA1 54465 broad.mit.edu 37 2 67624765 67624766 + Frame_Shift_Ins INS - - T TCGA-ET-A40Q-01A-11D-A23M-08 TCGA-ET-A40Q-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx dfe288f0-ec44-4a22-8136-fd5ee948f101 bf959b0c-98bf-4bc9-af29-4fed90522963 g.chr2:67624765_67624766insT ENST00000272342.5 + 1 315_316 c.185_186insT c.(184-186)cccfs p.P62fs NM_019002.3 NP_061875.2 Q9NY74 ETAA1_HUMAN Ewing tumor-associated antigen 1 62 cytoplasm|nucleus autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1) 33 CGAGAGCAGCCTCCGACCGCCG 0.713 2 4 --- --- --- --- ZNF717 100131827 broad.mit.edu 37 3 75790810 75790811 + Frame_Shift_Ins INS - - T rs76346895 TCGA-ET-A40Q-01A-11D-A23M-08 TCGA-ET-A40Q-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx dfe288f0-ec44-4a22-8136-fd5ee948f101 bf959b0c-98bf-4bc9-af29-4fed90522963 g.chr3:75790810_75790811insT ENST00000422325.1 - 3 456_457 c.134_135insA c.(133-135)actfs p.T45fs ZNF717_ENST00000491507.1_5'UTR|ZNF717_ENST00000477374.1_Frame_Shift_Ins_p.T45fs|ZNF717_ENST00000478296.1_5'UTR|ZNF717_ENST00000400845.3_Frame_Shift_Ins_p.T38fs NM_001128223.1 NP_001121695.1 C9JSV9 C9JSV9_HUMAN zinc finger protein 717 45 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding autonomic_ganglia(6)|endometrium(3)|lung(2)|ovary(1)|stomach(7) 19 CCCTGTACAGGGTCCTCTGAGC 0.510 2 4 --- --- --- --- ATXN1 6310 broad.mit.edu 37 6 16327913 16327915 + In_Frame_Del DEL TGA TGA - rs11969612 by1000genomes TCGA-ET-A40Q-01A-11D-A23M-08 TCGA-ET-A40Q-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx dfe288f0-ec44-4a22-8136-fd5ee948f101 bf959b0c-98bf-4bc9-af29-4fed90522963 g.chr6:16327913_16327915delTGA ENST00000244769.4 - 8 1563_1565 c.627_629delTCA c.(625-630)cag>ca p.HQ211del ATXN1_ENST00000436367.1_In_Frame_Del_p.HQ211del NM_000332.3 NP_000323.2 P54253 ATX1_HUMAN ataxin 1 211 Poly-Gln. H -> HQ (in Ref. 1; CAA55793). cell death|negative regulation of transcription, DNA-dependent|nuclear export|RNA processing cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein binding|protein C-terminus binding|protein self-association p.H209delH(2)|p.H209_H211delHQH(1) NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2) 44 Breast(50;0.063)|Ovarian(93;0.0733) all_hematologic(90;0.000682)|Ovarian(999;0.00973) ctgctgatgctgatgctgctgct 0.665 8 15 --- --- --- --- LINC00271 0 broad.mit.edu 37 6 135853918 135853920 + RNA DEL GAG GAG - TCGA-ET-A40Q-01A-11D-A23M-08 TCGA-ET-A40Q-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx dfe288f0-ec44-4a22-8136-fd5ee948f101 bf959b0c-98bf-4bc9-af29-4fed90522963 g.chr6:135853918_135853920delGAG ENST00000421378.2 + 0 147 NR_026805.1 ggaagaggaagaggaggaggaag 0.478 4 5 --- --- --- --- KRTAP5-2 440021 broad.mit.edu 37 11 1619173 1619202 + In_Frame_Del DEL CCCCCACAGGAGCCACAGCCCCCCTTGGAG CCCCCACAGGAGCCACAGCCCCCCTTGGAG - rs61869706 by1000genomes TCGA-ET-A40Q-01A-11D-A23M-08 TCGA-ET-A40Q-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx dfe288f0-ec44-4a22-8136-fd5ee948f101 bf959b0c-98bf-4bc9-af29-4fed90522963 g.chr11:1619173_1619202delCCCCCACAGGAGCCACAGCCCCCCTTGGAG ENST00000412090.1 - 1 322_351 c.279_308delCTCCAAGGGGGGCTGTGGCTCCTGTGGGGG c.(277-309)ggt>gg p.GSKGGCGSCGG93del KRTAP5-AS1_ENST00000424148.1_RNA NM_001004325.1 NP_001004325.1 Q701N4 KRA52_HUMAN keratin associated protein 5-2 93 6 X 4 AA repeats of C-C-X-P. keratin filament large_intestine(1)|lung(2)|skin(1) 4 all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082) CCCCTTGGAACCCCCACAGGAGCCACAGCCCCCCTTGGAGCCCCCACAGG 0.657 33 267 --- --- --- --- CLIP1 6249 broad.mit.edu 37 12 122812690 122812691 + Frame_Shift_Ins INS - - T TCGA-ET-A40Q-01A-11D-A23M-08 TCGA-ET-A40Q-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx dfe288f0-ec44-4a22-8136-fd5ee948f101 bf959b0c-98bf-4bc9-af29-4fed90522963 g.chr12:122812690_122812691insT ENST00000358808.2 - 16 3173_3174 c.3019_3020insA c.(3019-3021)ccafs p.P1007fs CLIP1_ENST00000361654.4_Frame_Shift_Ins_p.P896fs|CLIP1_ENST00000302528.7_Frame_Shift_Ins_p.P1007fs|CLIP1_ENST00000545889.1_Frame_Shift_Ins_p.P593fs|CLIP1_ENST00000540338.1_Frame_Shift_Ins_p.P1018fs|CLIP1_ENST00000537178.1_Frame_Shift_Ins_p.P972fs NM_001247997.1|NM_002956.2 NP_001234926.1|NP_002947.1 P30622 CLIP1_HUMAN CAP-GLY domain containing linker protein 1 1018 mitotic prometaphase|positive regulation of microtubule polymerization centrosome|cytosol|endosome|intermediate filament|kinetochore nucleic acid binding|protein homodimerization activity|zinc ion binding NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226) CTGGTTGTGGCTTGTTTCCATT 0.505 8 277 --- --- --- --- OR4N2 390429 broad.mit.edu 37 14 20296055 20296056 + Frame_Shift_Ins INS - - T rs149523724 by1000genomes TCGA-ET-A40Q-01A-11D-A23M-08 TCGA-ET-A40Q-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx dfe288f0-ec44-4a22-8136-fd5ee948f101 bf959b0c-98bf-4bc9-af29-4fed90522963 g.chr14:20296055_20296056insT ENST00000315947.1 + 1 448_449 c.448_449insT c.(448-450)tggfs p.W150fs OR4N2_ENST00000568211.1_Frame_Shift_Ins_p.W150fs NM_001004723.1 NP_001004723.1 Q8NGD1 OR4N2_HUMAN olfactory receptor, family 4, subfamily N, member 2 150 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2) 52 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) GGCTCTGTGGCTTGGGGGTTTT 0.530 48 374 --- --- --- --- OR4N4 283694 broad.mit.edu 37 15 22382920 22382921 + Frame_Shift_Ins INS - - T TCGA-ET-A40Q-01A-11D-A23M-08 TCGA-ET-A40Q-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx dfe288f0-ec44-4a22-8136-fd5ee948f101 bf959b0c-98bf-4bc9-af29-4fed90522963 g.chr15:22382920_22382921insT ENST00000328795.4 + 1 539_540 c.448_449insT c.(448-450)tggfs p.W150fs RP11-69H14.6_ENST00000558896.1_RNA NM_001005241.2 NP_001005241.2 Q8N0Y3 OR4N4_HUMAN olfactory receptor, family 4, subfamily N, member 4 150 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 40 all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101) GBM - Glioblastoma multiforme(6;0.124) all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963) GGCTCTGTGGCTTGGGGGTTTT 0.535 59 370 --- --- --- --- FRG1B 0 broad.mit.edu 37 20 29625899 29625900 + Frame_Shift_Ins INS - - AT TCGA-ET-A40Q-01A-11D-A23M-08 TCGA-ET-A40Q-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx dfe288f0-ec44-4a22-8136-fd5ee948f101 bf959b0c-98bf-4bc9-af29-4fed90522963 g.chr20:29625899_29625900insAT ENST00000278882.3 + 5 523_524 c.143_144insAT c.(142-144)atafs p.I48fs FRG1B_ENST00000439954.2_Frame_Shift_Ins_p.I53fs|FRG1B_ENST00000358464.4_Frame_Shift_Ins_p.I48fs endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GGCTATGGAAAATATCTTGGTA 0.342 7 207 --- --- --- --- BAGE2 85319 broad.mit.edu 37 21 11085940 11085942 + RNA DEL CAC CAC - TCGA-ET-A40Q-01A-11D-A23M-08 TCGA-ET-A40Q-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx dfe288f0-ec44-4a22-8136-fd5ee948f101 bf959b0c-98bf-4bc9-af29-4fed90522963 g.chr21:11085940_11085942delCAC ENST00000470054.1 - 0 324 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) ccaccaccatcaccaccaccacc 0.532 5 2 --- --- --- ---