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 STT3A 3703 broad.mit.edu 37 11 125479386 125479386 + Missense_Mutation SNP A A C TCGA-DJ-A2PZ-01A-21D-A18F-08 TCGA-DJ-A2PZ-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47823436-dc3b-4dc3-ad15-923a6121bd38 84d11fd9-30d2-4915-9f09-f42b4c0f10a3 g.chr11:125479386A>C uc001qcd.2 + 9 1129 c.1019A>C c.(1018-1020)aAg>aCg p.K340T STT3A_uc009zbm.2_Missense_Mutation_p.K340T|STT3A_uc001qce.2_Missense_Mutation_p.K340T|STT3A_uc010sbg.1_Missense_Mutation_p.K248T|STT3A_uc009zbn.2_Intron NM_152713 NP_689926 P46977 STT3A_HUMAN Homo sapiens STT3, subunit of the oligosaccharyltransferase complex, homolog A (S. cerevisiae) (STT3A), mRNA. 340 post-translational protein modification|protein N-linked glycosylation via asparagine integral to membrane|oligosaccharyltransferase complex dolichyl-diphosphooligosaccharide-protein glycotransferase activity NS(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(15)|skin(1) 33 all_hematologic(175;0.228) Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0919)|all_lung(97;0.0994)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0996) TCTTATGCTAAGAACAACATC 0.473000 38 97 0 0 1 0 0 HSPH1 10808 broad.mit.edu 37 13 31725226 31725226 + Missense_Mutation SNP C C A TCGA-DJ-A2PZ-01A-21D-A18F-08 TCGA-DJ-A2PZ-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47823436-dc3b-4dc3-ad15-923a6121bd38 84d11fd9-30d2-4915-9f09-f42b4c0f10a3 g.chr13:31725226C>A uc001utl.3 - 6 1043 c.772G>T c.(772-774)Gca>Tca p.A258S HSPH1_uc001utj.3_Missense_Mutation_p.A256S|HSPH1_uc001utk.3_Missense_Mutation_p.A256S|HSPH1_uc010aaw.3_Missense_Mutation_p.A215S|HSPH1_uc010tds.2_Missense_Mutation_p.A180S|HSPH1_uc010tdt.1_Non-coding_Transcript NM_006644 NP_006635 Q92598 HS105_HUMAN Homo sapiens heat shock 105kDa/110kDa protein 1 (HSPH1), mRNA. 256 positive regulation of MHC class I biosynthetic process|positive regulation of NK T cell activation|response to unfolded protein cytoplasm|extracellular region ATP binding breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 27 Lung SC(185;0.0257) all cancers(112;0.00385)|Epithelial(112;0.0328)|OV - Ovarian serous cystadenocarcinoma(117;0.0375)|GBM - Glioblastoma multiforme(144;0.125) TTGGATTTTGCATCCAACTTG 0.373000 25 48 0 0 1 0 0 SIPA1L2 57568 broad.mit.edu 37 1 232629364 232629364 + Missense_Mutation SNP A A G TCGA-DJ-A2PZ-01A-21D-A18F-08 TCGA-DJ-A2PZ-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47823436-dc3b-4dc3-ad15-923a6121bd38 84d11fd9-30d2-4915-9f09-f42b4c0f10a3 g.chr1:232629364A>G uc001hvg.3 - 1 1684 c.1526T>C c.(1525-1527)gTa>gCa p.V509A NM_020808 NP_065859 Q9P2F8 SI1L2_HUMAN Homo sapiens signal-induced proliferation-associated 1 like 2 (SIPA1L2), mRNA. 509 regulation of small GTPase mediated signal transduction intracellular GTPase activator activity NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 103 all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186) GCTGACTGCTACTGGACCAAG 0.458000 5 304 0 0 1 0 0 CAPNS1 826 broad.mit.edu 37 19 36637183 36637183 + Silent SNP C C A TCGA-DJ-A2PZ-01A-21D-A18F-08 TCGA-DJ-A2PZ-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47823436-dc3b-4dc3-ad15-923a6121bd38 84d11fd9-30d2-4915-9f09-f42b4c0f10a3 g.chr19:36637183C>A uc002odi.1 + 8 847 c.690C>A c.(688-690)atC>atA p.I230I CAPNS1_uc002odk.3_Silent_p.I230I|CAPNS1_uc002odj.3_Silent_p.I230I|CAPNS1_uc002odl.3_Silent_p.I230I NM_001749 NP_001740 P04632 CPNS1_HUMAN Homo sapiens calpain, small subunit 1 (CAPNS1), transcript variant 1, mRNA. 230 EF-hand 4. positive regulation of cell proliferation cytoplasm|plasma membrane calcium ion binding|calcium-dependent cysteine-type endopeptidase activity cervix(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1) 5 Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.06) ACAACTTCATCAGCTGCTTGG 0.493000 91 136 0 0 1 0 0 ZC3H18 124245 broad.mit.edu 37 16 88675418 88675418 + Missense_Mutation SNP A A G TCGA-DJ-A2PZ-01A-21D-A18F-08 TCGA-DJ-A2PZ-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47823436-dc3b-4dc3-ad15-923a6121bd38 84d11fd9-30d2-4915-9f09-f42b4c0f10a3 g.chr16:88675418A>G uc010voz.2 + 7 1437 c.1237A>G c.(1237-1239)Agg>Ggg p.R413G ZC3H18_uc021tmm.1_Missense_Mutation_p.R413G|ZC3H18_uc010voy.1_Missense_Mutation_p.R272G|ZC3H18_uc002fky.3_Missense_Mutation_p.R389G|ZC3H18_uc010chw.3_5'Flank NM_144604 NP_653205 Q86VM9 ZCH18_HUMAN Homo sapiens zinc finger CCCH-type containing 18 (ZC3H18), mRNA. 389 nucleus nucleic acid binding|zinc ion binding endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 42 BRCA - Breast invasive adenocarcinoma(80;0.0542) TGAGAATTTCAGGGTGCAGTA 0.408000 3 91 0 0 1 0 0 HBS1L 10767 broad.mit.edu 37 6 135314952 135314952 + Missense_Mutation SNP T T C TCGA-DJ-A2PZ-01A-21D-A18F-08 TCGA-DJ-A2PZ-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47823436-dc3b-4dc3-ad15-923a6121bd38 84d11fd9-30d2-4915-9f09-f42b4c0f10a3 g.chr6:135314952T>C uc003qez.2 - 7 1234 c.1027A>G c.(1027-1029)Atg>Gtg p.M343V HBS1L_uc003qey.2_Missense_Mutation_p.M179V|HBS1L_uc011ecy.1_Missense_Mutation_p.M67V|HBS1L_uc011ecz.1_Missense_Mutation_p.M179V|HBS1L_uc011eda.1_Missense_Mutation_p.M301V NM_006620 NP_006611 Q9Y450 HBS1L_HUMAN Homo sapiens HBS1-like (S. cerevisiae) (HBS1L), transcript variant 1, mRNA. 343 signal transduction GTP binding|GTPase activity|translation elongation factor activity NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(3) 20 Colorectal(23;0.221) OV - Ovarian serous cystadenocarcinoma(155;0.0046)|GBM - Glioblastoma multiforme(68;0.00702) GGAGCATCCATTAATGTAATA 0.373000 4 34 0 0 1 0 0 DNAJB11 51726 broad.mit.edu 37 3 186299235 186299235 + Missense_Mutation SNP A A G TCGA-DJ-A2PZ-01A-21D-A18F-08 TCGA-DJ-A2PZ-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47823436-dc3b-4dc3-ad15-923a6121bd38 84d11fd9-30d2-4915-9f09-f42b4c0f10a3 g.chr3:186299235A>G uc003fqi.3 + 4 1267 c.532A>G c.(532-534)Acc>Gcc p.T178A NM_016306 NP_057390 Q9UBS4 DJB11_HUMAN Homo sapiens DnaJ (Hsp40) homolog, subfamily B, member 11 (DNAJB11), mRNA. 178 protein folding endoplasmic reticulum lumen heat shock protein binding breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|urinary_tract(2) 15 all_cancers(143;2.84e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;1.44e-20) GBM - Glioblastoma multiforme(93;0.0476) GATGCGGACCACCCAGCTGGG 0.517000 33 65 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-DJ-A2PZ-01A-21D-A18F-08 TCGA-DJ-A2PZ-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47823436-dc3b-4dc3-ad15-923a6121bd38 84d11fd9-30d2-4915-9f09-f42b4c0f10a3 g.chr7:140453136A>T uc003vwc.4 - 14 1860 c.1799T>A c.(1798-1800)gTg>gAg p.V600E NM_004333 NP_004324 P15056 BRAF_HUMAN Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA. 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(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(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 18 47 0 0 1 0 0 GUCA2B 2981 broad.mit.edu 37 1 42620417 42620417 + Missense_Mutation SNP C C A TCGA-DJ-A2PZ-01A-21D-A18F-08 TCGA-DJ-A2PZ-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47823436-dc3b-4dc3-ad15-923a6121bd38 84d11fd9-30d2-4915-9f09-f42b4c0f10a3 g.chr1:42620417C>A uc001chc.1 + 1 187 c.157C>A c.(157-159)Ccc>Acc p.P53T NM_007102 NP_009033 Q16661 GUC2B_HUMAN Homo sapiens guanylate cyclase activator 2B (uroguanylin) (GUCA2B), mRNA. 53 excretion extracellular region calcium sensitive guanylate cyclase activator activity breast(1)|large_intestine(2) 3 Ovarian(52;0.01)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0333) ACAGTGGGCACCCAGCCCCCG 0.647000 16 34 0 0 1 0 0 FCGBP 8857 broad.mit.edu 37 19 40364079 40364079 + Missense_Mutation SNP G G A TCGA-DJ-A2PZ-01A-21D-A18F-08 TCGA-DJ-A2PZ-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47823436-dc3b-4dc3-ad15-923a6121bd38 84d11fd9-30d2-4915-9f09-f42b4c0f10a3 g.chr19:40364079G>A uc002omp.4 - 30 14571 c.14563C>T c.(14563-14565)Cgc>Tgc p.R4855C NM_003890 NP_003881 Q9Y6R7 FCGBP_HUMAN Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA. 4855 VWFD 12. extracellular region protein binding NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3) 165 all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06) Epithelial(26;6.25e-23)|all cancers(26;1.13e-20) GCCAGGCAGCGGCCACAGCCT 0.642000 24 33 0 0 1 0 0 F7 2155 broad.mit.edu 37 13 113768272 113768272 + Missense_Mutation SNP C C T TCGA-DJ-A2PZ-01A-21D-A18F-08 TCGA-DJ-A2PZ-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47823436-dc3b-4dc3-ad15-923a6121bd38 84d11fd9-30d2-4915-9f09-f42b4c0f10a3 g.chr13:113768272C>T uc001vsv.3 + 4 479 c.428C>T c.(427-429)aCg>aTg p.T143M F7_uc010agp.1_Missense_Mutation_p.T136M|F7_uc001vsw.3_Missense_Mutation_p.T121M|F7_uc010tjt.2_Missense_Mutation_p.T74M NM_000131 NP_000122 P08709 FA7_HUMAN Homo sapiens coagulation factor VII (serum prothrombin conversion accelerator) (F7), transcript variant 1, mRNA. 143 anti-apoptosis|blood coagulation, extrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of leukocyte chemotaxis|positive regulation of platelet-derived growth factor receptor signaling pathway|positive regulation of positive chemotaxis|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis Golgi lumen|endoplasmic reticulum lumen|plasma membrane calcium ion binding|glycoprotein binding|serine-type endopeptidase activity large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 16 all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163) all_cancers(25;0.118)|all_lung(25;0.0364)|all_epithelial(44;0.0393)|Lung NSC(25;0.128)|Breast(118;0.188) all cancers(43;0.0737)|Epithelial(84;0.213)|BRCA - Breast invasive adenocarcinoma(86;0.218) Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Menadione(DB00170) AACTGTGAGACGCGTAAGGCC 0.632000 12 44 0 0 1 0 0 NCOA3 8202 broad.mit.edu 37 20 46262900 46262900 + Missense_Mutation SNP A A G TCGA-DJ-A2PZ-01A-21D-A18F-08 TCGA-DJ-A2PZ-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47823436-dc3b-4dc3-ad15-923a6121bd38 84d11fd9-30d2-4915-9f09-f42b4c0f10a3 g.chr20:46262900A>G uc002xtk.3 + 9 1334 c.1073A>G c.(1072-1074)aAt>aGt p.N358S NCOA3_uc002xtl.3_Missense_Mutation_p.N358S|NCOA3_uc002xtn.3_Missense_Mutation_p.N358S|NCOA3_uc010ght.2_Missense_Mutation_p.N368S|NCOA3_uc002xtm.3_Missense_Mutation_p.N358S|NCOA3_uc010zyc.2_Missense_Mutation_p.N153S NM_181659 NP_858045 Q9Y6Q9 NCOA3_HUMAN Homo sapiens nuclear receptor coactivator 3 (NCOA3), transcript variant 1, mRNA. 358 androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleoplasm androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 52 CCTGTAACAAATGATCGACAT 0.398000 23 74 0 0 1 0 0 METTL11A 28989 broad.mit.edu 37 9 132397704 132397704 + Silent SNP C C G rs151072869 TCGA-DJ-A2PZ-01A-21D-A18F-08 TCGA-DJ-A2PZ-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47823436-dc3b-4dc3-ad15-923a6121bd38 84d11fd9-30d2-4915-9f09-f42b4c0f10a3 g.chr9:132397704C>G uc004byd.1 + 3 827 c.633C>G c.(631-633)ccC>ccG p.P211P METTL11A_uc011mbs.1_3'UTR|METTL11A_uc010myw.1_Non-coding_Transcript|ASB6_uc004bye.1_3'UTR|ASB6_uc004byf.2_3'UTR|ASB6_uc010myx.2_3'UTR|ASB6_uc004byg.2_3'UTR|ASB6_uc011mbt.2_3'UTR NM_014064 NP_054783 Q9BV86 NTM1A_HUMAN Homo sapiens methyltransferase like 11A (METTL11A), mRNA. 211 N-terminal peptidyl-proline dimethylation|N-terminal peptidyl-serine dimethylation|N-terminal peptidyl-serine trimethylation|chromosome segregation|spindle organization nucleus protein binding|protein methyltransferase activity breast(2)|endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1) 7 AGAACCTCCCCGATGAGATCT 0.627000 3 107 0 0 1 0 0 CADM1 23705 broad.mit.edu 37 11 115102104 115102104 + Missense_Mutation SNP G G C TCGA-DJ-A2PZ-01A-21D-A18F-08 TCGA-DJ-A2PZ-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47823436-dc3b-4dc3-ad15-923a6121bd38 84d11fd9-30d2-4915-9f09-f42b4c0f10a3 g.chr11:115102104G>C uc001ppj.4 - 3 660 c.531C>G c.(529-531)atC>atG p.I177M CADM1_uc001ppf.4_Missense_Mutation_p.I177M|CADM1_uc001ppi.4_Missense_Mutation_p.I177M|CADM1_uc001ppk.4_Missense_Mutation_p.I177M|CADM1_uc001ppl.3_Missense_Mutation_p.I177M NM_014333 NP_055148 Q9BY67 CADM1_HUMAN Homo sapiens cell adhesion molecule 1 (CADM1), transcript variant 1, mRNA. 177 Ig-like C2-type 1. adherens junction organization|apoptosis|cell differentiation|cell junction assembly|cell recognition|detection of stimulus|heterophilic cell-cell adhesion|homophilic cell adhesion|multicellular organismal development|positive regulation of cytokine secretion|spermatogenesis|susceptibility to natural killer cell mediated cytotoxicity basolateral plasma membrane|cell-cell junction|integral to membrane PDZ domain binding|protein C-terminus binding|protein homodimerization activity|receptor binding p.I177I(2) cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1) 32 all_hematologic(175;0.0628) all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237) BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303) TGAACCACCTGATAGTCGTGG 0.463000 5 81 0 0 1 0 0 SYT11 23208 broad.mit.edu 37 1 155838393 155838393 + Silent SNP C C T TCGA-DJ-A2PZ-01A-21D-A18F-08 TCGA-DJ-A2PZ-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47823436-dc3b-4dc3-ad15-923a6121bd38 84d11fd9-30d2-4915-9f09-f42b4c0f10a3 g.chr1:155838393C>T uc001fmg.3 + 1 965 c.672C>T c.(670-672)gaC>gaT p.D224D SYT11_uc010pgq.2_Intron NM_152280 NP_689493 Q9BT88 SYT11_HUMAN Homo sapiens synaptotagmin XI (SYT11), mRNA. 224 C2 1. cell junction|synaptic vesicle membrane protein binding|transporter activity p.D224H(1) breast(2)|central_nervous_system(1)|endometrium(1)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 20 Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195) OV - Ovarian serous cystadenocarcinoma(3;0.000162) CTGTGTTTGACGAGACCTTCA 0.557000 19 44 0 0 1 0 0 CDK13 8621 broad.mit.edu 37 7 40027812 40027812 + Missense_Mutation SNP C C T TCGA-DJ-A2PZ-01A-21D-A18F-08 TCGA-DJ-A2PZ-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47823436-dc3b-4dc3-ad15-923a6121bd38 84d11fd9-30d2-4915-9f09-f42b4c0f10a3 g.chr7:40027812C>T uc003thh.4 + 1 2108 c.1826C>T c.(1825-1827)cCg>cTg p.P609L CDK13_uc003thi.4_Missense_Mutation_p.P609L|CDK13_uc011kbf.2_5'UTR NM_003718 NP_003709 Q14004 CDK13_HUMAN Homo sapiens cyclin-dependent kinase 13 (CDK13), transcript variant 1, mRNA. 609 alternative nuclear mRNA splicing, via spliceosome|hemopoiesis|interspecies interaction between organisms|phosphorylation of RNA polymerase II C-terminal domain|positive regulation of cell proliferation|regulation of mitosis nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck ATP binding|RNA polymerase II carboxy-terminal domain kinase activity|cyclin-dependent protein kinase activity|protein binding cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(2)|prostate(2)|skin(5)|stomach(2)|urinary_tract(1) 49 ACATTACCACCGTTACCTTTG 0.393000 22 47 0 0 1 0 0 SYNE2 23224 broad.mit.edu 37 14 64560157 64560157 + Missense_Mutation SNP C C A TCGA-DJ-A2PZ-01A-21D-A18F-08 TCGA-DJ-A2PZ-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47823436-dc3b-4dc3-ad15-923a6121bd38 84d11fd9-30d2-4915-9f09-f42b4c0f10a3 g.chr14:64560157C>A uc001xgl.3 + 60 12297 c.12067C>A c.(12067-12069)Cat>Aat p.H4023N SYNE2_uc001xgm.3_Missense_Mutation_p.H4023N|SYNE2_uc021ruh.1_Missense_Mutation_p.H4056N|SYNE2_uc010apy.3_Missense_Mutation_p.H408N|SYNE2_uc010apx.1_Missense_Mutation_p.H415N NM_182914 NP_878918 Q8WXH0 SYNE2_HUMAN Homo sapiens spectrin repeat containing, nuclear envelope 2 (SYNE2), transcript variant 5, mRNA. 4023 centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration SUN-KASH complex|Z disc|cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane actin binding|protein binding NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4) 224 all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681) CTCCCTTGAACATATGTCACC 0.328000 4 94 0 0 1 0 0 ANKS1A 23294 broad.mit.edu 37 6 34985386 34985386 + Silent SNP C C T TCGA-DJ-A2PZ-01A-21D-A18F-08 TCGA-DJ-A2PZ-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47823436-dc3b-4dc3-ad15-923a6121bd38 84d11fd9-30d2-4915-9f09-f42b4c0f10a3 g.chr6:34985386C>T uc003ojx.4 + 10 1702 c.1560C>T c.(1558-1560)ctC>ctT p.L520L ANKS1A_uc011dst.2_Silent_p.L60L|ANKS1A_uc010jvp.2_Intron NM_015245 NP_056060 Q92625 ANS1A_HUMAN Homo sapiens ankyrin repeat and sterile alpha motif domain containing 1A (ANKS1A), mRNA. 520 cytoplasm protein binding cervix(2)|endometrium(3)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 31 TCCAGCTGCTCTGTACCGCTG 0.692000 7 35 0 0 1 0 0 HIST2H2AC 8338 broad.mit.edu 37 1 149858710 149858710 + Frame_Shift_Del DEL G G - TCGA-DJ-A2PZ-01A-21D-A18F-08 TCGA-DJ-A2PZ-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47823436-dc3b-4dc3-ad15-923a6121bd38 84d11fd9-30d2-4915-9f09-f42b4c0f10a3 g.chr1:149858710delG uc001etd.3 + 0 186 c.186delG c.(184-186)gagfs p.E62fs HIST2H2BE_uc001etc.3_5'Flank NM_003517 NP_003508 Q16777 H2A2C_HUMAN Homo sapiens histone cluster 2, H2ac (HIST2H2AC), mRNA. 62 nucleosome assembly nucleosome|nucleus DNA binding NS(1)|breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|ovary(1)|skin(1) 20 Breast(34;0.0124)|all_hematologic(923;0.127) STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221) TGACCGCCGAGATCCTGGAGC 0.672 37 63 --- --- --- --- RBBP6 5930 broad.mit.edu 37 16 24581020 24581021 + Frame_Shift_Ins INS - - AC TCGA-DJ-A2PZ-01A-21D-A18F-08 TCGA-DJ-A2PZ-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47823436-dc3b-4dc3-ad15-923a6121bd38 84d11fd9-30d2-4915-9f09-f42b4c0f10a3 g.chr16:24581020_24581021insAC uc002dmh.3 + 16 4049_4050 c.3009_3010insAC c.(3007-3012)gaaaaafs p.E1003fs RBBP6_uc010vcb.1_Frame_Shift_Ins_p.E870fs|RBBP6_uc002dmi.3_Frame_Shift_Ins_p.E969fs|RBBP6_uc010bxr.3_Intron|RBBP6_uc002dmk.3_Frame_Shift_Ins_p.E836fs NM_006910 NP_008841 Q7Z6E9 RBBP6_HUMAN Homo sapiens retinoblastoma binding protein 6 (RBBP6), transcript variant 1, mRNA. 1003 Interaction with RB1 (By similarity). protein ubiquitination involved in ubiquitin-dependent protein catabolic process chromosome|nucleolus|ubiquitin ligase complex nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1) 46 GBM - Glioblastoma multiforme(48;0.0518) CAGTGTCTGAAAAAGACAAGAG 0.371 45 65 --- --- --- ---