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 IGFN1 91156 broad.mit.edu 37 1 201184678 201184678 + Missense_Mutation SNP A A G TCGA-FY-A40L-01A-11D-A23M-08 TCGA-FY-A40L-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 382b11e1-7464-4ff6-948b-c377540e1023 4d8e07aa-04c1-4f2c-a849-1ffe44f3fdb0 g.chr1:201184678A>G ENST00000335211.4 + 15 9137 c.9007A>G c.(9007-9009)Att>Gtt p.I3003V IGFN1_ENST00000451870.2_Missense_Mutation_p.I546V|IGFN1_ENST00000295591.8_Missense_Mutation_p.I163V NM_001164586.1 NP_001158058.1 immunoglobulin-like and fibronectin type III domain containing 1 autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 TTCCCCTACCATTGCTCCAGA 0.522000 49 69 0 0 1 0 0 THBS2 7058 broad.mit.edu 37 6 169642009 169642009 + Missense_Mutation SNP C C T TCGA-FY-A40L-01A-11D-A23M-08 TCGA-FY-A40L-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 382b11e1-7464-4ff6-948b-c377540e1023 4d8e07aa-04c1-4f2c-a849-1ffe44f3fdb0 g.chr6:169642009C>T ENST00000366787.3 - 6 988 c.739G>A c.(739-741)Ggt>Agt p.G247S NM_003247.2 NP_003238.2 P35442 TSP2_HUMAN thrombospondin 2 247 cell adhesion extracellular region calcium ion binding|heparin binding|protein binding|structural molecule activity NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 111 Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247) OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379) ACATGCGGACCCAGGCGCAGC 0.642000 11 95 0 0 1 0 0 COQ6 51004 broad.mit.edu 37 14 74429684 74429684 + Missense_Mutation SNP G G A TCGA-FY-A40L-01A-11D-A23M-08 TCGA-FY-A40L-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 382b11e1-7464-4ff6-948b-c377540e1023 4d8e07aa-04c1-4f2c-a849-1ffe44f3fdb0 g.chr14:74429684G>A ENST00000334571.2 + 12 1429 c.1389G>A c.(1387-1389)atG>atA p.M463I ENTPD5_ENST00000557325.1_Intron|COQ6_ENST00000557780.1_3'UTR|ENTPD5_ENST00000334696.6_3'UTR|COQ6_ENST00000238709.4_Missense_Mutation_p.M388I|COQ6_ENST00000394026.4_Missense_Mutation_p.M438I|COQ6_ENST00000554920.1_Missense_Mutation_p.G165S NM_182476.2 NP_872282.1 Q9Y2Z9 COQ6_HUMAN coenzyme Q6 monooxygenase 463 ubiquinone biosynthetic process mitochondrion flavin adenine dinucleotide binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1) 16 BRCA - Breast invasive adenocarcinoma(234;0.00337) AACAGATTATGGCCTTTGCAA 0.338000 18 26 0 0 1 0 0 TNFSF15 9966 broad.mit.edu 37 9 117553051 117553051 + Missense_Mutation SNP T T A TCGA-FY-A40L-01A-11D-A23M-08 TCGA-FY-A40L-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 382b11e1-7464-4ff6-948b-c377540e1023 4d8e07aa-04c1-4f2c-a849-1ffe44f3fdb0 g.chr9:117553051T>A ENST00000374045.4 - 4 550 c.437A>T c.(436-438)gAc>gTc p.D146V TNFSF15_ENST00000374044.1_Missense_Mutation_p.D69V NM_001204344.1|NM_005118.3 NP_001191273.1|NP_005109.2 O95150 TNF15_HUMAN tumor necrosis factor (ligand) superfamily, member 15 146 activation of caspase activity|activation of NF-kappaB-inducing kinase activity|cytokine metabolic process|immune response extracellular space|integral to plasma membrane cytokine activity|tumor necrosis factor receptor binding breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|skin(1) 11 AATGAAGTAGTCTCCCGACTC 0.512000 18 30 0 0 1 0 0 PDZD2 23037 broad.mit.edu 37 5 31983721 31983721 + Missense_Mutation SNP G G T TCGA-FY-A40L-01A-11D-A23M-08 TCGA-FY-A40L-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 382b11e1-7464-4ff6-948b-c377540e1023 4d8e07aa-04c1-4f2c-a849-1ffe44f3fdb0 g.chr5:31983721G>T ENST00000438447.1 + 3 1325 c.937G>T c.(937-939)Ggt>Tgt p.G313C PDZD2_ENST00000282493.3_Missense_Mutation_p.G313C O15018 PDZD2_HUMAN PDZ domain containing 2 313 cell adhesion cell-cell junction|endoplasmic reticulum|extracellular region|nucleus NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 148 CTTCTCAAAAGGTGGGAAGAC 0.458000 56 126 2.73361e-28 2.89929e-28 1 1 0 USP24 23358 broad.mit.edu 37 1 55612684 55612684 + Missense_Mutation SNP G G A TCGA-FY-A40L-01A-11D-A23M-08 TCGA-FY-A40L-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 382b11e1-7464-4ff6-948b-c377540e1023 4d8e07aa-04c1-4f2c-a849-1ffe44f3fdb0 g.chr1:55612684G>A ENST00000294383.6 - 19 2167 c.2168C>T c.(2167-2169)aCt>aTt p.T723I USP24_ENST00000407756.1_Missense_Mutation_p.T563I NM_015306.2 NP_056121.2 Q9UPU5 UBP24_HUMAN ubiquitin specific peptidase 24 723 ubiquitin-dependent protein catabolic process binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 60 CAGATACAGAGTAGCTTCTTG 0.393000 6 55 0 0 1 0 0 TUBB8P7 0 broad.mit.edu 37 16 90161926 90161926 + RNA SNP T T C rs8061283 by1000genomes TCGA-FY-A40L-01A-11D-A23M-08 TCGA-FY-A40L-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 382b11e1-7464-4ff6-948b-c377540e1023 4d8e07aa-04c1-4f2c-a849-1ffe44f3fdb0 g.chr16:90161926T>C ENST00000567960.1 + 0 662 TUBB8P7_ENST00000564451.1_RNA p.I221T(3) CCCACACCCATCTATGGTGAC 0.527000 4 41 0 0 1 0 0 CAD 790 broad.mit.edu 37 2 27458192 27458192 + Missense_Mutation SNP C C T TCGA-FY-A40L-01A-11D-A23M-08 TCGA-FY-A40L-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 382b11e1-7464-4ff6-948b-c377540e1023 4d8e07aa-04c1-4f2c-a849-1ffe44f3fdb0 g.chr2:27458192C>T ENST00000264705.4 + 24 4028 c.3866C>T c.(3865-3867)gCc>gTc p.A1289V CAD_ENST00000403525.1_Missense_Mutation_p.A1226V NM_004341.3 NP_004332.2 P27708 PYR1_HUMAN carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase 1289 CPSase (Carbamoyl-phosphate synthase).|CPSase B. 'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process cytosol|neuronal cell body|nuclear matrix|terminal button aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 92 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) L-Aspartic Acid(DB00128)|L-Glutamine(DB00130) GGGGAGGTGGCCGGCTTTGGG 0.572000 43 68 0 0 1 0 0 ZNF706 51123 broad.mit.edu 37 8 102213962 102213962 + Missense_Mutation SNP C C G TCGA-FY-A40L-01A-11D-A23M-08 TCGA-FY-A40L-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 382b11e1-7464-4ff6-948b-c377540e1023 4d8e07aa-04c1-4f2c-a849-1ffe44f3fdb0 g.chr8:102213962C>G ENST00000520347.1 - 2 2964 c.8G>C c.(7-9)cGt>cCt p.R3P ZNF706_ENST00000518336.1_Missense_Mutation_p.R3P|ZNF706_ENST00000517844.1_Missense_Mutation_p.R3P|ZNF706_ENST00000519882.1_Missense_Mutation_p.R3P|ZNF706_ENST00000521272.1_Missense_Mutation_p.R3P|ZNF706_ENST00000519744.1_Missense_Mutation_p.R3P|ZNF706_ENST00000520984.1_Missense_Mutation_p.R3P|ZNF706_ENST00000311212.4_Missense_Mutation_p.R3P Q9Y5V0 ZN706_HUMAN zinc finger protein 706 3 intracellular zinc ion binding p.R3P(2) large_intestine(1)|ovary(2) 3 all_cancers(14;3.3e-07)|all_epithelial(15;3.47e-09)|Lung NSC(17;3.44e-05)|all_lung(17;0.000117) Epithelial(11;8.57e-11)|all cancers(13;1.43e-08)|OV - Ovarian serous cystadenocarcinoma(57;1.43e-05) CTGCTGTCCACGAGCCATATC 0.398000 6 21 0 0 1 0 0 MN1 4330 broad.mit.edu 37 22 28194930 28194930 + Silent SNP C C T TCGA-FY-A40L-01A-11D-A23M-08 TCGA-FY-A40L-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 382b11e1-7464-4ff6-948b-c377540e1023 4d8e07aa-04c1-4f2c-a849-1ffe44f3fdb0 g.chr22:28194930C>T ENST00000302326.4 - 1 2556 c.1602G>A c.(1600-1602)caG>caA p.Q534Q NM_002430.2 NP_002421.3 Q10571 MN1_HUMAN meningioma (disrupted in balanced translocation) 1 534 Poly-Gln. binding p.Q550_R551insQ(1) NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 45 gctgctgctgctgttgctgct 0.647000 T ETV6 """AML, meningioma""" 5 10 0 0 1 0 0 CEP164 22897 broad.mit.edu 37 11 117261870 117261870 + Missense_Mutation SNP A A G TCGA-FY-A40L-01A-11D-A23M-08 TCGA-FY-A40L-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 382b11e1-7464-4ff6-948b-c377540e1023 4d8e07aa-04c1-4f2c-a849-1ffe44f3fdb0 g.chr11:117261870A>G ENST00000278935.3 + 17 2369 c.2222A>G c.(2221-2223)aAt>aGt p.N741S CEP164_ENST00000533706.1_3'UTR NM_014956.4 NP_055771.4 Q9UPV0 CE164_HUMAN centrosomal protein 164kDa 741 Glu-rich. cell division|DNA repair|G2/M transition of mitotic cell cycle|mitosis centriole|cytosol|nucleus breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3) 47 all_hematologic(175;0.0487) Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008) GCTGCCCTGAATGCTGCAAAG 0.557000 18 32 0 0 1 0 0 PLXNA1 5361 broad.mit.edu 37 3 126707544 126707544 + Silent SNP T T G TCGA-FY-A40L-01A-11D-A23M-08 TCGA-FY-A40L-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 382b11e1-7464-4ff6-948b-c377540e1023 4d8e07aa-04c1-4f2c-a849-1ffe44f3fdb0 g.chr3:126707544T>G ENST00000251772.4 + 1 108 c.39T>G c.(37-39)ggT>ggG p.G13G PLXNA1_ENST00000393409.2_Silent_p.G36G Q9UIW2 PLXA1_HUMAN plexin A1 36 axon guidance integral to membrane|intracellular|plasma membrane semaphorin receptor activity p.G13G(4) breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 67 GBM - Glioblastoma multiforme(114;0.155) CAGGCGGGGGTTCACAGCCCC 0.682000 7 35 0 0 1 0 0 POTEC 388468 broad.mit.edu 37 18 14542734 14542734 + Missense_Mutation SNP C C T TCGA-FY-A40L-01A-11D-A23M-08 TCGA-FY-A40L-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 382b11e1-7464-4ff6-948b-c377540e1023 4d8e07aa-04c1-4f2c-a849-1ffe44f3fdb0 g.chr18:14542734C>T ENST00000358970.5 - 1 411 c.412G>A c.(412-414)Gaa>Aaa p.E138K POTEC_ENST00000389891.4_5'UTR NM_001137671.1 NP_001131143.1 B2RU33 POTEC_HUMAN POTE ankyrin domain family, member C 138 NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3) 52 TCCAGATCTTCTCGACGGACG 0.602000 86 175 0 0 1 0 0 ZNF727 442319 broad.mit.edu 37 7 63538597 63538597 + Silent SNP C C T TCGA-FY-A40L-01A-11D-A23M-08 TCGA-FY-A40L-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 382b11e1-7464-4ff6-948b-c377540e1023 4d8e07aa-04c1-4f2c-a849-1ffe44f3fdb0 g.chr7:63538597C>T ENST00000550760.3 + 4 1349 c.1170C>T c.(1168-1170)caC>caT p.H390H NM_001159522.1 NP_001152994.1 A8MUV8 ZN727_HUMAN zinc finger protein 727 390 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|kidney(2)|skin(1)|stomach(1)|urinary_tract(1) 8 AGAGAATTCACACTGGAGAGA 0.383000 3 20 0 0 1 0 0 ASPDH 554235 broad.mit.edu 37 19 51017835 51017835 + Translation_Start_Site SNP G G A rs889131 by1000genomes TCGA-FY-A40L-01A-11D-A23M-08 TCGA-FY-A40L-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 382b11e1-7464-4ff6-948b-c377540e1023 4d8e07aa-04c1-4f2c-a849-1ffe44f3fdb0 g.chr19:51017835G>A ENST00000376916.3 - 0 112 ASPDH_ENST00000597030.1_5'UTR NM_001024656.2 NP_001019827.2 A6ND91 ASPD_HUMAN aspartate dehydrogenase domain containing NAD biosynthetic process|NADP catabolic process aspartate dehydrogenase activity|NADP binding endometrium(1)|large_intestine(1)|lung(1) 3 CCCAGCTCGCGTCAGCCCAGG 0.637000 7 110 0 0 1 0 0 RCOR2 283248 broad.mit.edu 37 11 63679850 63679850 + Missense_Mutation SNP C C T TCGA-FY-A40L-01A-11D-A23M-08 TCGA-FY-A40L-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 382b11e1-7464-4ff6-948b-c377540e1023 4d8e07aa-04c1-4f2c-a849-1ffe44f3fdb0 g.chr11:63679850C>T ENST00000301459.4 - 11 1571 c.1184G>A c.(1183-1185)gGa>gAa p.G395E NM_173587.3 NP_775858.2 Q8IZ40 RCOR2_HUMAN REST corepressor 2 395 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding kidney(2)|large_intestine(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 17 GACTGGGGCTCCAGGGGCCCC 0.612000 24 172 0 0 1 0 0 ACAD9 28976 broad.mit.edu 37 3 128618263 128618263 + Missense_Mutation SNP A A T TCGA-FY-A40L-01A-11D-A23M-08 TCGA-FY-A40L-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 382b11e1-7464-4ff6-948b-c377540e1023 4d8e07aa-04c1-4f2c-a849-1ffe44f3fdb0 g.chr3:128618263A>T ENST00000308982.7 + 7 848 c.767A>T c.(766-768)aAt>aTt p.N256I ACAD9_ENST00000511526.1_3'UTR NM_014049.4 NP_054768.2 Q9H845 ACAD9_HUMAN acyl-CoA dehydrogenase family, member 9 256 mitochondrion acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 30 GGAGTCACTAATGGGAAACCC 0.473000 53 61 0 0 1 0 0 ATXN1 6310 broad.mit.edu 37 6 16327903 16327903 + Missense_Mutation SNP C C A rs3817753 TCGA-FY-A40L-01A-11D-A23M-08 TCGA-FY-A40L-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 382b11e1-7464-4ff6-948b-c377540e1023 4d8e07aa-04c1-4f2c-a849-1ffe44f3fdb0 g.chr6:16327903C>A ENST00000244769.4 - 8 1575 c.639G>T c.(637-639)caG>caT p.Q213H ATXN1_ENST00000436367.1_Missense_Mutation_p.Q213H NM_000332.3 NP_000323.2 P54253 ATX1_HUMAN ataxin 1 213 Poly-Gln. 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 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) gctgctgctgctgctgatgct 0.667000 4 18 0.000602214 0.000619927 1 1 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-FY-A40L-01A-11D-A23M-08 TCGA-FY-A40L-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 382b11e1-7464-4ff6-948b-c377540e1023 4d8e07aa-04c1-4f2c-a849-1ffe44f3fdb0 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 14 40 0 0 1 0 0 PLK2 10769 broad.mit.edu 37 5 57755770 57755770 + Missense_Mutation SNP G G C TCGA-FY-A40L-01A-11D-A23M-08 TCGA-FY-A40L-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 382b11e1-7464-4ff6-948b-c377540e1023 4d8e07aa-04c1-4f2c-a849-1ffe44f3fdb0 g.chr5:57755770G>C ENST00000274289.3 - 1 317 c.17C>G c.(16-18)aCt>aGt p.T6S NM_001252226.1|NM_006622.3 NP_001239155.1|NP_006613.2 Q9NYY3 PLK2_HUMAN polo-like kinase 2 6 positive regulation of I-kappaB kinase/NF-kappaB cascade ATP binding|protein binding|protein serine/threonine kinase activity|signal transducer activity endometrium(7)|large_intestine(7)|lung(5)|ovary(3)|prostate(2)|skin(2) 26 all_cancers(5;1.76e-12)|all_epithelial(5;2.09e-13)|all_lung(5;6.64e-05)|Lung NSC(5;0.000127)|Prostate(74;0.055)|Breast(144;0.0602)|Ovarian(174;0.182) OV - Ovarian serous cystadenocarcinoma(10;7.03e-37) GTAGGTGATAGTCCGCAAAAG 0.697000 18 31 0 0 1 0 0 CASP7 840 broad.mit.edu 37 10 115485263 115485263 + Silent SNP C C G TCGA-FY-A40L-01A-11D-A23M-08 TCGA-FY-A40L-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 382b11e1-7464-4ff6-948b-c377540e1023 4d8e07aa-04c1-4f2c-a849-1ffe44f3fdb0 g.chr10:115485263C>G ENST00000369321.2 + 6 938 c.618C>G c.(616-618)acC>acG p.T206T CASP7_ENST00000452490.2_Silent_p.T148T|CASP7_ENST00000345633.4_Silent_p.T173T|CASP7_ENST00000369318.3_Silent_p.T173T|CASP7_ENST00000369331.4_Intron|CASP7_ENST00000369315.1_Silent_p.T173T NM_033338.5 NP_203124.1 P55210 CASP7_HUMAN caspase 7, apoptosis-related cysteine peptidase 173 activation of caspase activity by cytochrome c|cellular component disassembly involved in apoptosis|induction of apoptosis by intracellular signals|proteolysis cytosol|endoplasmic reticulum membrane|mitochondrial membrane|nucleoplasm cysteine-type endopeptidase activity|protein binding kidney(1)|large_intestine(1)|lung(5)|ovary(1) 8 Colorectal(252;0.0946)|Breast(234;0.188) Epithelial(162;0.012)|all cancers(201;0.014) GATGCAAAACCCTTTTAGAGA 0.408000 18 41 0 0 1 0 0 CCDC88B 283234 broad.mit.edu 37 11 64108629 64108629 + Silent SNP T T C TCGA-FY-A40L-01A-11D-A23M-08 TCGA-FY-A40L-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 382b11e1-7464-4ff6-948b-c377540e1023 4d8e07aa-04c1-4f2c-a849-1ffe44f3fdb0 g.chr11:64108629T>C ENST00000356786.5 + 4 411 c.367T>C c.(367-369)Ttg>Ctg p.L123L CCDC88B_ENST00000463837.1_3'UTR NM_032251.5 NP_115627.6 A6NC98 CC88B_HUMAN coiled-coil domain containing 88B 123 microtubule cytoskeleton organization cytoplasm microtubule binding endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 CCTCCAGACATTGGGATTTGA 0.627000 26 78 0 0 1 0 0 C11orf45 219833 broad.mit.edu 37 11 128773264 128773264 + Silent SNP C C T TCGA-FY-A40L-01A-11D-A23M-08 TCGA-FY-A40L-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 382b11e1-7464-4ff6-948b-c377540e1023 4d8e07aa-04c1-4f2c-a849-1ffe44f3fdb0 g.chr11:128773264C>T ENST00000310799.3 - 3 472 c.279G>A c.(277-279)gtG>gtA p.V93V KCNJ5_ENST00000529694.1_Intron|C11orf45_ENST00000524878.1_Silent_p.V93V|KCNJ5_ENST00000338350.4_Intron|C11orf45_ENST00000530168.1_5'UTR NM_001256088.1|NM_145013.2 NP_001243017.1|NP_659450.1 Q8TAV5 CK045_HUMAN chromosome 11 open reading frame 45 93 extracellular region endometrium(1)|kidney(1)|lung(2)|pancreas(1)|prostate(2) 7 all_hematologic(175;0.0641) Lung NSC(97;0.00521)|Breast(109;0.00715)|all_lung(97;0.0111)|Medulloblastoma(222;0.0523)|all_neural(223;0.186) OV - Ovarian serous cystadenocarcinoma(99;0.00531)|LUSC - Lung squamous cell carcinoma(976;0.0193)|Lung(977;0.0195) GCACTCACCTCACACAGCCAC 0.502000 20 65 0 0 1 0 0 ADC 113451 broad.mit.edu 37 1 33583674 33583675 + Frame_Shift_Ins INS - - C TCGA-FY-A40L-01A-11D-A23M-08 TCGA-FY-A40L-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 382b11e1-7464-4ff6-948b-c377540e1023 4d8e07aa-04c1-4f2c-a849-1ffe44f3fdb0 g.chr1:33583674_33583675insC ENST00000294517.6 + 11 1788_1789 c.1201_1202insC c.(1201-1203)ccafs p.P401fs ADC_ENST00000484656.1_3'UTR|ADC_ENST00000398167.1_Frame_Shift_Ins_p.P421fs|ADC_ENST00000373443.3_Frame_Shift_Ins_p.P401fs|ADC_ENST00000373441.1_Frame_Shift_Ins_p.P421fs NM_052998.2 NP_443724.1 Q96A70 ADC_HUMAN arginine decarboxylase 401 polyamine biosynthetic process|spermatogenesis cytosol arginine decarboxylase activity NS(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(2) 11 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837) L-Arginine(DB00125)|Pyridoxal Phosphate(DB00114) CTTTTGGGGGACCCAGGCCTGC 0.624 10 125 --- --- --- --- GRIP2 80852 broad.mit.edu 37 3 14555758 14555759 + RNA INS - - AGTT rs10656368 by1000genomes TCGA-FY-A40L-01A-11D-A23M-08 TCGA-FY-A40L-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 382b11e1-7464-4ff6-948b-c377540e1023 4d8e07aa-04c1-4f2c-a849-1ffe44f3fdb0 g.chr3:14555758_14555759insAGTT ENST00000273083.3 - 0 1558 Q9C0E4 GRIP2_HUMAN glutamate receptor interacting protein 2 synaptic transmission cytosol|plasma membrane protein binding endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1) 25 CAGTTTCTCTCAGAGAGTGGCA 0.579 3 3 --- --- --- --- TLR2 7097 broad.mit.edu 37 4 154625331 154625331 + Frame_Shift_Del DEL T T - TCGA-FY-A40L-01A-11D-A23M-08 TCGA-FY-A40L-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 382b11e1-7464-4ff6-948b-c377540e1023 4d8e07aa-04c1-4f2c-a849-1ffe44f3fdb0 g.chr4:154625331delT ENST00000260010.6 + 1 2680 c.1272delT c.(1270-1272)agfs p.S424fs NM_003264.3 NP_003255.2 O60603 TLR2_HUMAN toll-like receptor 2 424 cellular response to diacyl bacterial lipopeptide|cellular response to lipoteichoic acid|cellular response to triacyl bacterial lipopeptide|detection of diacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|I-kappaB phosphorylation|induction of apoptosis|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of interferon-beta production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of Wnt receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway cytoplasm|integral to plasma membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex Gram-positive bacterial cell surface binding|lipopolysaccharide receptor activity|peptidoglycan binding|protein heterodimerization activity|transmembrane receptor activity|triacyl lipopeptide binding breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1) 29 all_hematologic(180;0.093) Renal(120;0.117) GTAAGAATAGTTTTCATTCTA 0.363 35 35 --- --- --- --- ATXN1 6310 broad.mit.edu 37 6 16327913 16327915 + In_Frame_Del DEL TGA TGA - rs11969612 by1000genomes TCGA-FY-A40L-01A-11D-A23M-08 TCGA-FY-A40L-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 382b11e1-7464-4ff6-948b-c377540e1023 4d8e07aa-04c1-4f2c-a849-1ffe44f3fdb0 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 9 19 --- --- --- --- OR4N2 390429 broad.mit.edu 37 14 20296055 20296056 + Frame_Shift_Ins INS - - T rs149523724 by1000genomes TCGA-FY-A40L-01A-11D-A23M-08 TCGA-FY-A40L-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 382b11e1-7464-4ff6-948b-c377540e1023 4d8e07aa-04c1-4f2c-a849-1ffe44f3fdb0 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 23 245 --- --- --- --- DDX28 55794 broad.mit.edu 37 16 68055898 68055898 + Frame_Shift_Del DEL A A - TCGA-FY-A40L-01A-11D-A23M-08 TCGA-FY-A40L-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 382b11e1-7464-4ff6-948b-c377540e1023 4d8e07aa-04c1-4f2c-a849-1ffe44f3fdb0 g.chr16:68055898delA ENST00000332395.5 - 1 1872 c.1208delT c.(1207-1209)tcfs p.F403fs NM_018380.3 NP_060850.2 Q9NUL7 DDX28_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 28 403 Helicase C-terminal. mitochondrial nucleoid|nucleus ATP binding|ATP-dependent helicase activity|RNA binding central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 13 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0116)|Epithelial(162;0.0474)|all cancers(182;0.233) GCTATTACAGAACACCAGAAC 0.517 52 82 --- --- --- --- KRTAP4-1 85285 broad.mit.edu 37 17 39340796 39340852 + In_Frame_Del DEL CGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG CGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG - rs483929 by1000genomes TCGA-FY-A40L-01A-11D-A23M-08 TCGA-FY-A40L-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 382b11e1-7464-4ff6-948b-c377540e1023 4d8e07aa-04c1-4f2c-a849-1ffe44f3fdb0 g.chr17:39340796_39340852delCGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG ENST00000398472.1 - 1 742_798 c.255_311delCCCACTCTGCTGTCAGACCACCTGCCACCCCAGCTGTGGTATGTCCAGCTGCTGCCG c.(253-312)cgt>cg p.RPLCCQTTCHPSCGMSSCCR85del Q9BYQ7 KRA41_HUMAN keratin associated protein 4-1 85 18 X 5 AA repeats of C-C-[GRQC]-[SPT]- [VSTL]. Missing (in allele KAP4.10). keratin filament p.H90_C108delHPSCGMSSCCRPLCCQTTC(2)|p.H94_C112delHPSCGMSSCCRPLCCQTTC(2) kidney(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1) 5 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000449) ACAGAGTGGACGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGGCGGCAGCAGC 0.646 128 57 --- --- --- --- MYBPC2 4606 broad.mit.edu 37 19 50963366 50963367 + Frame_Shift_Ins INS - - G TCGA-FY-A40L-01A-11D-A23M-08 TCGA-FY-A40L-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 382b11e1-7464-4ff6-948b-c377540e1023 4d8e07aa-04c1-4f2c-a849-1ffe44f3fdb0 g.chr19:50963366_50963367insG ENST00000357701.5 + 24 2912_2913 c.2861_2862insG c.(2860-2862)cgcfs p.R954fs NM_004533.3 NP_004524.3 Q14324 MYPC2_HUMAN myosin binding protein C, fast type 954 Fibronectin type-III 3. cell adhesion|muscle filament sliding cytosol|myosin filament actin binding|structural constituent of muscle breast(1) 1 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144) GTGGAGTGGCAGGCCCCCAAAG 0.550 7 17 --- --- --- --- TRIOBP 11078 broad.mit.edu 37 22 38119882 38119884 + In_Frame_Del DEL CCT CCT - TCGA-FY-A40L-01A-11D-A23M-08 TCGA-FY-A40L-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 382b11e1-7464-4ff6-948b-c377540e1023 4d8e07aa-04c1-4f2c-a849-1ffe44f3fdb0 g.chr22:38119882_38119884delCCT ENST00000406386.3 + 7 1574_1576 c.1319_1321delCCT c.(1318-1323)gcc>g p.AS440del RP1-37E16.12_ENST00000455236.1_RNA NM_001039141.2 NP_001034230.1 Q9H2D6 TARA_HUMAN TRIO and F-actin binding protein 440 actin modification|barbed-end actin filament capping actin cytoskeleton|cytoplasm|nucleus actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 12 Melanoma(58;0.0574) AATCCCAGAGCCTCCTCTCCCAG 0.601 9 167 --- --- --- ---