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 RGPD3 653489 broad.mit.edu 37 2 107049631 107049631 + Silent SNP C C T TCGA-KS-A41I-01A-11D-A23M-08 TCGA-KS-A41I-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2141ba0-087c-4982-afda-8e955eb1a699 bb0aa13f-91b1-49bb-ab18-78372bf5d8ff g.chr2:107049631C>T ENST00000409886.3 - 16 2403 c.2316G>A c.(2314-2316)gcG>gcA p.A772A RGPD3_ENST00000304514.7_Silent_p.A772A NM_001144013.1 NP_001137485.1 A6NKT7 RGPD3_HUMAN RANBP2-like and GRIP domain containing 3 772 intracellular transport binding p.A772A(4) breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2) 71 TTTCTGAATCCGCATTTCGCA 0.373000 6 304 0 0 1 0 0 OBSCN 84033 broad.mit.edu 37 1 228434397 228434397 + Missense_Mutation SNP C C T TCGA-KS-A41I-01A-11D-A23M-08 TCGA-KS-A41I-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2141ba0-087c-4982-afda-8e955eb1a699 bb0aa13f-91b1-49bb-ab18-78372bf5d8ff g.chr1:228434397C>T ENST00000570156.2 + 14 4276 c.4202C>T c.(4201-4203)gCg>gTg p.A1401V OBSCN_ENST00000422127.1_Missense_Mutation_p.A1309V|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000284548.11_Missense_Mutation_p.A1309V NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 383 Ig-like 14. V -> A (in Ref. 1; CAC85749).|V -> T (in Ref. 1; CAC85746). apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) ATAGAGGCTGCGGGCTGCATG 0.637000 4 158 0 0 1 0 0 NBPF10 100132406 broad.mit.edu 37 1 145367739 145367739 + Silent SNP A A G rs146714035 by1000genomes TCGA-KS-A41I-01A-11D-A23M-08 TCGA-KS-A41I-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2141ba0-087c-4982-afda-8e955eb1a699 bb0aa13f-91b1-49bb-ab18-78372bf5d8ff g.chr1:145367739A>G ENST00000342960.5 + 83 10370 c.10335A>G c.(10333-10335)aaA>aaG p.K3445K NBPF10_ENST00000369339.2_Intron|NBPF10_ENST00000369338.1_Intron NM_001039703.4 NP_001034792.4 A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 3445 p.K3445K(4) NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) ggaaggggaaaaaaagaaggg 0.413000 5 84 0 0 1 0 0 CYP11B1 0 broad.mit.edu 37 8 143957743 143957743 + Missense_Mutation SNP C C T TCGA-KS-A41I-01A-11D-A23M-08 TCGA-KS-A41I-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2141ba0-087c-4982-afda-8e955eb1a699 bb0aa13f-91b1-49bb-ab18-78372bf5d8ff g.chr8:143957743C>T ENST00000292427.4 - 5 900 c.868G>A c.(868-870)Gtg>Atg p.V290M CYP11B1_ENST00000517471.1_Missense_Mutation_p.V290M|CYP11B1_ENST00000377675.3_Missense_Mutation_p.V361M NM_000497.3 NP_000488.3 P15538 C11B1_HUMAN cytochrome P450, family 11, subfamily B, polypeptide 1 290 aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process mitochondrial inner membrane electron carrier activity|steroid 11-beta-monooxygenase activity p.V290M(1) central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2) 67 all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) Mitotane(DB00648) AGCTCCGCCACGATGCTGGTG 0.587000 Familial Hyperaldosteronism type I 13 29 0 0 1 0 0 KIAA1109 84162 broad.mit.edu 37 4 123193497 123193497 + Missense_Mutation SNP C C G TCGA-KS-A41I-01A-11D-A23M-08 TCGA-KS-A41I-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2141ba0-087c-4982-afda-8e955eb1a699 bb0aa13f-91b1-49bb-ab18-78372bf5d8ff g.chr4:123193497C>G ENST00000264501.4 + 48 8756 c.8383C>G c.(8383-8385)Cta>Gta p.L2795V KIAA1109_ENST00000455637.1_Missense_Mutation_p.L2795V|KIAA1109_ENST00000388738.3_Missense_Mutation_p.L2795V Q2LD37 K1109_HUMAN KIAA1109 2795 regulation of cell growth|regulation of epithelial cell differentiation integral to membrane|nucleus breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3) 172 TATTGGTGGACTAACAATGGA 0.388000 24 36 0 0 1 0 0 HECTD4 283450 broad.mit.edu 37 12 112657210 112657210 + Silent SNP A A G TCGA-KS-A41I-01A-11D-A23M-08 TCGA-KS-A41I-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2141ba0-087c-4982-afda-8e955eb1a699 bb0aa13f-91b1-49bb-ab18-78372bf5d8ff g.chr12:112657210A>G ENST00000550722.1 - 45 7011 c.6616T>C c.(6616-6618)Ttg>Ctg p.L2206L HECTD4_ENST00000430131.2_Silent_p.L1930L|HECTD4_ENST00000377560.5_Silent_p.L2180L NM_001109662.3 NP_001103132.3 HECT domain containing E3 ubiquitin protein ligase 4 TCAGCCTGCAAAGGAGGTGGT 0.592000 18 63 0 0 1 0 0 SEC24A 10802 broad.mit.edu 37 5 133996961 133996961 + Nonsense_Mutation SNP C C T TCGA-KS-A41I-01A-11D-A23M-08 TCGA-KS-A41I-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2141ba0-087c-4982-afda-8e955eb1a699 bb0aa13f-91b1-49bb-ab18-78372bf5d8ff g.chr5:133996961C>T ENST00000398844.2 + 2 538 c.250C>T c.(250-252)Cag>Tag p.Q84* SEC24A_ENST00000322887.4_Nonsense_Mutation_p.Q84* NM_021982.2 NP_068817.1 O95486 SC24A_HUMAN SEC24 family member A 84 COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm zinc ion binding NS(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 36 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) GGGATCTGGGCAGACTCTTAA 0.502000 5 179 0 0 1 0 0 NRAS 4893 broad.mit.edu 37 1 115256529 115256529 + Missense_Mutation SNP T T C rs11554290 TCGA-KS-A41I-01A-11D-A23M-08 TCGA-KS-A41I-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2141ba0-087c-4982-afda-8e955eb1a699 bb0aa13f-91b1-49bb-ab18-78372bf5d8ff g.chr1:115256529T>C ENST00000369535.4 - 3 435 c.182A>G c.(181-183)cAa>cGa p.Q61R NM_002524.4 NP_002515.1 P01111 RASN_HUMAN neuroblastoma RAS viral (v-ras) oncogene homolog 61 Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290). activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction Golgi membrane|plasma membrane GTP binding|GTPase activity p.Q61R(817)|p.Q61L(175)|p.Q61P(23)|p.Q61K(1) NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13) 3085 all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211) all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) GTACTCTTCTTGTCCAGCTGT 0.458000 Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID) 50 Mis """melanoma, MM, AML, thyroid""" Noonan syndrome TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6) 62 110 0 0 1 0 0 CEP250 11190 broad.mit.edu 37 20 34059927 34059927 + Missense_Mutation SNP C C T rs116166982 byFrequency TCGA-KS-A41I-01A-11D-A23M-08 TCGA-KS-A41I-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2141ba0-087c-4982-afda-8e955eb1a699 bb0aa13f-91b1-49bb-ab18-78372bf5d8ff g.chr20:34059927C>T ENST00000397527.1 + 11 1721 c.1001C>T c.(1000-1002)gCg>gTg p.A334V CEP250_ENST00000342580.4_Missense_Mutation_p.A334V NM_007186.3 NP_009117.2 Q9BV73 CP250_HUMAN centrosomal protein 250kDa 334 centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex protein C-terminus binding|protein kinase binding NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 Lung NSC(9;0.00156)|all_lung(11;0.00243) BRCA - Breast invasive adenocarcinoma(18;0.0106) AGTAGGAATGCGCAAGAGGAG 0.458000 5 212 0 0 1 0 0 SYNDIG1L 646658 broad.mit.edu 37 14 74874341 74874341 + Missense_Mutation SNP C C T TCGA-KS-A41I-01A-11D-A23M-08 TCGA-KS-A41I-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2141ba0-087c-4982-afda-8e955eb1a699 bb0aa13f-91b1-49bb-ab18-78372bf5d8ff g.chr14:74874341C>T ENST00000331628.3 - 4 861 c.614G>A c.(613-615)cGg>cAg p.R205Q SYNDIG1L_ENST00000554823.1_Missense_Mutation_p.R205Q NM_001105579.1 NP_001099049.1 A6NDD5 SYN1L_HUMAN synapse differentiation inducing 1-like 205 response to biotic stimulus Golgi apparatus|integral to membrane breast(1)|central_nervous_system(1)|endometrium(1)|lung(8)|pancreas(1)|prostate(1)|skin(1) 14 GAAGAGGGCCCGGCGGGAGGT 0.637000 7 145 0 0 1 0 0 DNAH5 1767 broad.mit.edu 37 5 13769625 13769625 + Silent SNP G G A TCGA-KS-A41I-01A-11D-A23M-08 TCGA-KS-A41I-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2141ba0-087c-4982-afda-8e955eb1a699 bb0aa13f-91b1-49bb-ab18-78372bf5d8ff g.chr5:13769625G>A ENST00000265104.4 - 57 9809 c.9705C>T c.(9703-9705)aaC>aaT p.N3235N DNAH5_ENST00000504001.3_5'UTR NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 3235 Stalk (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) CGGCTTTATCGTTGGCCACTT 0.423000 Kartagener syndrome 6 128 0 0 1 0 0 TCTN2 79867 broad.mit.edu 37 12 124181040 124181040 + Missense_Mutation SNP C C T TCGA-KS-A41I-01A-11D-A23M-08 TCGA-KS-A41I-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2141ba0-087c-4982-afda-8e955eb1a699 bb0aa13f-91b1-49bb-ab18-78372bf5d8ff g.chr12:124181040C>T ENST00000303372.5 + 12 1519 c.1391C>T c.(1390-1392)tCg>tTg p.S464L TCTN2_ENST00000426174.2_Missense_Mutation_p.S463L NM_001143850.2|NM_024809.4 NP_001137322.1|NP_079085.2 Q96GX1 TECT2_HUMAN tectonic family member 2 464 cilium assembly|smoothened signaling pathway integral to membrane breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 30 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000163)|Epithelial(86;0.000502)|all cancers(50;0.00451) CTTTGGCAATCGGGTAATCCG 0.368000 18 59 0 0 1 0 0 ABCD1 215 broad.mit.edu 37 X 152991422 152991422 + Missense_Mutation SNP G G A TCGA-KS-A41I-01A-11D-A23M-08 TCGA-KS-A41I-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2141ba0-087c-4982-afda-8e955eb1a699 bb0aa13f-91b1-49bb-ab18-78372bf5d8ff g.chrX:152991422G>A ENST00000218104.3 + 1 1100 c.701G>A c.(700-702)cGc>cAc p.R234H ABCD1_ENST00000370129.4_Missense_Mutation_p.R49H NM_000033.3 NP_000024.2 P33897 ABCD1_HUMAN ATP-binding cassette, sub-family D (ALD), member 1 234 ABC transmembrane type-1. fatty acid beta-oxidation using acyl-CoA oxidase|peroxisomal membrane transport|peroxisome organization cytosol|integral to peroxisomal membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances|identical protein binding|peroxisomal fatty-acyl-CoA transporter activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(2) 18 all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) CGGGCGGCCCGCTCCCGTGGA 0.687000 7 104 0 0 1 0 0 FAM47C 442444 broad.mit.edu 37 X 37028425 37028425 + Missense_Mutation SNP A A G rs145580328 byFrequency TCGA-KS-A41I-01A-11D-A23M-08 TCGA-KS-A41I-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2141ba0-087c-4982-afda-8e955eb1a699 bb0aa13f-91b1-49bb-ab18-78372bf5d8ff g.chrX:37028425A>G ENST00000358047.3 + 1 1994 c.1942A>G c.(1942-1944)Aat>Gat p.N648D NM_001013736.2 NP_001013758.1 Q5HY64 FA47C_HUMAN family with sequence similarity 47, member C 648 p.N648D(7) breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1) 120 GGAGCCTCCCAATACTGGAGT 0.642000 5 211 0 0 1 0 0 ALOX5 240 broad.mit.edu 37 10 45920457 45920457 + Missense_Mutation SNP C C G TCGA-KS-A41I-01A-11D-A23M-08 TCGA-KS-A41I-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2141ba0-087c-4982-afda-8e955eb1a699 bb0aa13f-91b1-49bb-ab18-78372bf5d8ff g.chr10:45920457C>G ENST00000374391.2 + 6 764 c.711C>G c.(709-711)ttC>ttG p.F237L ALOX5_ENST00000542434.1_Missense_Mutation_p.F237L NM_000698.3|NM_001256153.1 NP_000689.1|NP_001243082.1 P09917 LOX5_HUMAN arachidonate 5-lipoxygenase 237 Lipoxygenase. hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process cytosol|nuclear envelope lumen|nuclear matrix|nuclear membrane arachidonate 5-lipoxygenase activity|iron ion binding|lipoxygenase activity|protein binding breast(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 37 Lung SC(717;0.0257) Diethylcarbamazine(DB00711)|Hydrocortisone(DB00741)|Leflunomide(DB01097)|Masoprocol(DB00179)|Meclofenamic acid(DB00939)|Minocycline(DB01017)|Montelukast(DB00471)|Quinacrine(DB01103)|Vitamin E(DB00163)|Zileuton(DB00744) GCTACCAGTTCCTGAATGGCT 0.602000 34 70 0 0 1 0 0 COTL1 23406 broad.mit.edu 37 16 84600451 84600451 + Nonstop_Mutation SNP T T G TCGA-KS-A41I-01A-11D-A23M-08 TCGA-KS-A41I-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2141ba0-087c-4982-afda-8e955eb1a699 bb0aa13f-91b1-49bb-ab18-78372bf5d8ff g.chr16:84600451T>G ENST00000262428.4 - 4 591 c.429A>C c.(427-429)taA>taC p.*143Y COTL1_ENST00000564057.1_Nonstop_Mutation_p.*74Y|COTL1_ENST00000567278.1_5'UTR NM_021149.2 NP_066972.1 Q14019 COTL1_HUMAN coactosin-like 1 (Dictyostelium) 0 cytoplasm|cytoskeleton actin binding|enzyme binding endometrium(1)|large_intestine(1)|liver(1)|lung(2)|skin(1) 6 GGGGCTGGGGTTACTCCGTCT 0.622000 5 35 0 0 1 0 0 PPP2R2B 5521 broad.mit.edu 37 5 146077635 146077635 + Missense_Mutation SNP C C T TCGA-KS-A41I-01A-11D-A23M-08 TCGA-KS-A41I-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2141ba0-087c-4982-afda-8e955eb1a699 bb0aa13f-91b1-49bb-ab18-78372bf5d8ff g.chr5:146077635C>T ENST00000394413.3 - 3 811 c.241G>A c.(241-243)Gat>Aat p.D81N PPP2R2B_ENST00000356826.3_Missense_Mutation_p.D81N|PPP2R2B_ENST00000453001.1_Missense_Mutation_p.D81N|PPP2R2B_ENST00000508545.2_Missense_Mutation_p.D70N|PPP2R2B_ENST00000394411.4_Missense_Mutation_p.D81N|PPP2R2B_ENST00000394409.3_Missense_Mutation_p.D139N|PPP2R2B_ENST00000394414.1_Missense_Mutation_p.D147N|PPP2R2B_ENST00000336640.6_Missense_Mutation_p.D84N|PPP2R2B_ENST00000504198.1_Missense_Mutation_p.D87N|PPP2R2B_ENST00000530902.1_5'UTR|PPP2R2B_ENST00000394410.2_Missense_Mutation_p.D70N Q00005 2ABB_HUMAN protein phosphatase 2, regulatory subunit B, beta 81 apoptosis|signal transduction cytoskeleton|mitochondrial outer membrane|protein phosphatase type 2A complex protein binding|protein phosphatase type 2A regulator activity endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(9)|ovary(1)|prostate(4)|skin(3) 32 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) TTCAGGTAATCGAACTCGGGT 0.383000 43 80 0 0 1 0 0 HOXB3 3213 broad.mit.edu 37 17 46629486 46629486 + Silent SNP G G A TCGA-KS-A41I-01A-11D-A23M-08 TCGA-KS-A41I-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2141ba0-087c-4982-afda-8e955eb1a699 bb0aa13f-91b1-49bb-ab18-78372bf5d8ff g.chr17:46629486G>A ENST00000470495.1 - 1 1798 c.351C>T c.(349-351)tgC>tgT p.C117C HOXB3_ENST00000498678.1_Silent_p.C117C|HOXB3_ENST00000490677.1_Intron|HOXB3_ENST00000476342.1_Silent_p.C117C|HOXB3_ENST00000472863.1_Silent_p.C44C|HOXB-AS3_ENST00000465846.2_RNA|HOXB3_ENST00000460160.1_Intron|HOXB3_ENST00000489475.1_Silent_p.C44C|HOXB3_ENST00000311626.4_Silent_p.C117C|HOXB3_ENST00000485909.2_Intron P14651 HXB3_HUMAN homeobox B3 117 angiogenesis nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(16)|prostate(4)|upper_aerodigestive_tract(1) 30 TGCCGGGACCGCACTTTGGGG 0.617000 6 412 0 0 1 0 0 PLA2G4D 283748 broad.mit.edu 37 15 42379590 42379590 + Missense_Mutation SNP G G T TCGA-KS-A41I-01A-11D-A23M-08 TCGA-KS-A41I-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2141ba0-087c-4982-afda-8e955eb1a699 bb0aa13f-91b1-49bb-ab18-78372bf5d8ff g.chr15:42379590G>T ENST00000290472.3 - 3 257 c.163C>A c.(163-165)Cct>Act p.P55T NM_178034.3 NP_828848.3 Q86XP0 PA24D_HUMAN phospholipase A2, group IVD (cytosolic) 55 C2. phospholipid catabolic process cytoplasmic vesicle membrane|cytosol metal ion binding|phospholipase A2 activity NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|stomach(1) 27 all_cancers(109;6.37e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.019)|Ovarian(310;0.143)|Colorectal(260;0.245) OV - Ovarian serous cystadenocarcinoma(18;4.9e-17)|GBM - Glioblastoma multiforme(94;1.02e-06) TTCATTCCAGGTGCGGTCGAC 0.537000 14 194 0.00244969 0.00244969 1 1 0 PADI6 353238 broad.mit.edu 37 1 17721722 17721723 + RNA DEL GA GA - rs58784721 TCGA-KS-A41I-01A-11D-A23M-08 TCGA-KS-A41I-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2141ba0-087c-4982-afda-8e955eb1a699 bb0aa13f-91b1-49bb-ab18-78372bf5d8ff g.chr1:17721722_17721723delGA ENST00000434762.2 + 0 1545 Q6TGC4 PADI6_HUMAN peptidyl arginine deiminase, type VI peptidyl-citrulline biosynthetic process from peptidyl-arginine cytoplasm|nucleus calcium ion binding|protein-arginine deiminase activity breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(2) 29 Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189) L-Citrulline(DB00155) tttgttttttgagagtcttgct 0.485 3 6 --- --- --- --- ATP6V1C2 245973 broad.mit.edu 37 2 10917819 10917820 + Frame_Shift_Del DEL AG AG - TCGA-KS-A41I-01A-11D-A23M-08 TCGA-KS-A41I-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2141ba0-087c-4982-afda-8e955eb1a699 bb0aa13f-91b1-49bb-ab18-78372bf5d8ff g.chr2:10917819_10917820delAG ENST00000272238.4 + 11 1043_1044 c.934_935delAG c.(934-936)afs p.R312fs ATP6V1C2_ENST00000381661.3_Intron NM_001039362.1 NP_001034451.1 Q8NEY4 VATC2_HUMAN ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C2 312 ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport cytosol|proton-transporting V-type ATPase, V1 domain endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 19 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191) Epithelial(75;0.15)|OV - Ovarian serous cystadenocarcinoma(76;0.152) GCAGACCGACAGAGAGAGAGAG 0.604 7 127 --- --- --- --- ANKRD44 91526 broad.mit.edu 37 2 197943383 197943384 + Frame_Shift_Del DEL TG TG - TCGA-KS-A41I-01A-11D-A23M-08 TCGA-KS-A41I-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2141ba0-087c-4982-afda-8e955eb1a699 bb0aa13f-91b1-49bb-ab18-78372bf5d8ff g.chr2:197943383_197943384delTG ENST00000409153.1 - 16 1875_1876 c.1693_1694delCA c.(1693-1695)tfs p.H565fs ANKRD44_ENST00000539527.1_Frame_Shift_Del_p.H493fs|ANKRD44_ENST00000337207.5_Intron|ANKRD44_ENST00000450567.1_Intron|ANKRD44_ENST00000328737.2_Intron|ANKRD44_ENST00000282272.8_Intron Q8N8A2 ANR44_HUMAN ankyrin repeat domain 44 811 protein binding NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 45 OV - Ovarian serous cystadenocarcinoma(117;0.246) ATTTGGGGTATGTGTGTGTGTG 0.411 4 7 --- --- --- --- MAST4 375449 broad.mit.edu 37 5 66459102 66459121 + Frame_Shift_Del DEL CGGAAGGCGAAAGTCCGCCG CGGAAGGCGAAAGTCCGCCG - TCGA-KS-A41I-01A-11D-A23M-08 TCGA-KS-A41I-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2141ba0-087c-4982-afda-8e955eb1a699 bb0aa13f-91b1-49bb-ab18-78372bf5d8ff g.chr5:66459102_66459121delCGGAAGGCGAAAGTCCGCCG ENST00000404260.3 + 29 4412_4431 c.4104_4123delCGGAAGGCGAAAGTCCGCCG c.(4102-4125)tcgcfs p.SGRRKSAG1368fs MAST4_ENST00000261569.7_Frame_Shift_Del_p.SGRRKSAG1171fs|MAST4_ENST00000405643.1_Frame_Shift_Del_p.SGRRKSAG1186fs|MAST4_ENST00000403625.2_Frame_Shift_Del_p.SGRRKSAG1365fs|MAST4_ENST00000403666.1_Frame_Shift_Del_p.SGRRKSAG1176fs O15021 MAST4_HUMAN microtubule associated serine/threonine kinase family member 4 1368 cytoplasm ATP binding|magnesium ion binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2) 13 Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245) Lung(70;0.011) GGTACCGGTCCGGAAGGCGAAAGTCCGCCGGCAACATCCC 0.677 20 114 --- --- --- --- SFRP1 6422 broad.mit.edu 37 8 41166638 41166640 + In_Frame_Del DEL GCT GCT - rs3055861 TCGA-KS-A41I-01A-11D-A23M-08 TCGA-KS-A41I-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2141ba0-087c-4982-afda-8e955eb1a699 bb0aa13f-91b1-49bb-ab18-78372bf5d8ff g.chr8:41166638_41166640delGCT ENST00000220772.3 - 1 376_378 c.39_41delAGC c.(37-42)gcc>gc p.AA13del NM_003012.4 NP_003003.3 Q8N474 SFRP1_HUMAN secreted frizzled-related protein 1 13 brain development|canonical Wnt receptor signaling pathway|cellular response to BMP stimulus|cellular response to estradiol stimulus|cellular response to fibroblast growth factor stimulus|cellular response to heparin|cellular response to hypoxia|cellular response to interleukin-1|cellular response to prostaglandin E stimulus|cellular response to starvation|cellular response to transforming growth factor beta stimulus|cellular response to tumor necrosis factor|cellular response to vitamin D|DNA fragmentation involved in apoptotic nuclear change|dorsal/ventral axis specification|hemopoietic progenitor cell differentiation|hemopoietic stem cell differentiation|menstrual cycle phase|negative regulation of androgen receptor signaling pathway|negative regulation of B cell differentiation|negative regulation of bone remodeling|negative regulation of canonical Wnt receptor signaling pathway involved in controlling type B pancreatic cell proliferation|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cysteine-type endopeptidase activity|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast apoptosis|negative regulation of fibroblast proliferation|negative regulation of insulin secretion|negative regulation of ossification|negative regulation of osteoblast proliferation|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|osteoblast differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell growth|positive regulation of epithelial cell proliferation|positive regulation of fat cell differentiation|positive regulation of fibroblast apoptosis|positive regulation of focal adhesion assembly|positive regulation of non-canonical Wnt receptor signaling pathway|positive regulation of Rac GTPase activity|positive regulation of smoothened signaling pathway|positive regulation of stress fiber assembly|positive regulation of transcription, DNA-dependent|regulation of angiogenesis|regulation of cell cycle process|response to drug|response to organic cyclic compound|vasculature development cell surface|cytosol|extracellular space|plasma membrane|proteinaceous extracellular matrix cysteine-type endopeptidase activity|drug binding|frizzled binding|heparin binding|identical protein binding|PDZ domain binding|Wnt receptor activity|Wnt-protein binding breast(1)|central_nervous_system(1)|large_intestine(2)|liver(1)|lung(1)|skin(1) 7 Breast(1;9.19e-13)|Ovarian(28;0.00769)|Colorectal(14;0.0305)|Lung SC(25;0.211) all_lung(54;0.0034)|Lung NSC(58;0.0134)|Hepatocellular(245;0.023)|Esophageal squamous(32;0.0559) BRCA - Breast invasive adenocarcinoma(1;1.11e-10)|LUSC - Lung squamous cell carcinoma(45;0.00894)|COAD - Colon adenocarcinoma(11;0.0174) CACGCCCAGGGCTGCCCCGCGGC 0.764 9 3 --- --- --- --- RP11-551L14.1 0 broad.mit.edu 37 12 31269189 31269190 + RNA INS - - ATCAT rs35880498 TCGA-KS-A41I-01A-11D-A23M-08 TCGA-KS-A41I-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2141ba0-087c-4982-afda-8e955eb1a699 bb0aa13f-91b1-49bb-ab18-78372bf5d8ff g.chr12:31269189_31269190insATCAT ENST00000542490.1 - 0 165 central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(25)|prostate(3)|stomach(3)|urinary_tract(1) 41 CATGAGAACTCATTACCATGAT 0.351 3 3 --- --- --- ---