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 CSMD3 114788 broad.mit.edu 37 8 113418891 113418891 + Missense_Mutation SNP C C T TCGA-DJ-A2PW-01A-11D-A19J-08 TCGA-DJ-A2PW-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6409f4a-e1fb-4831-8fe7-0a67450f615e d33d4bc0-93b1-46ba-af93-21ad6af330f7 g.chr8:113418891C>T uc003ynu.3 - 34 5830 c.5671G>A c.(5671-5673)Ggc>Agc p.G1891S CSMD3_uc003yns.3_Missense_Mutation_p.G1093S|CSMD3_uc003ynt.3_Missense_Mutation_p.G1851S|CSMD3_uc011lhx.2_Missense_Mutation_p.G1787S NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA. 1891 Sushi 10. integral to membrane|plasma membrane breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 AATTCATTGCCAATTCTTCTT 0.358000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 9 79 0 0 1 0 0 GPR124 25960 broad.mit.edu 37 8 37693223 37693223 + Missense_Mutation SNP G G A rs142661492 by1000genomes TCGA-DJ-A2PW-01A-11D-A19J-08 TCGA-DJ-A2PW-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6409f4a-e1fb-4831-8fe7-0a67450f615e d33d4bc0-93b1-46ba-af93-21ad6af330f7 g.chr8:37693223G>A uc003xkj.3 + 12 2371 c.1985G>A c.(1984-1986)cGc>cAc p.R662H GPR124_uc010lvy.3_Intron NM_032777 NP_116166 Q96PE1 GP124_HUMAN Homo sapiens G protein-coupled receptor 124 (GPR124), mRNA. 662 central nervous system development|endothelial cell migration|neuropeptide signaling pathway|regulation of angiogenesis|regulation of chemotaxis|sprouting angiogenesis integral to membrane|plasma membrane G-protein coupled receptor activity central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 37 BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10) AACACCTCCCGCCCTGGAGCT 0.682000 9 82 0 0 1 0 0 ZNF621 285268 broad.mit.edu 37 3 40573621 40573621 + Missense_Mutation SNP C C G TCGA-DJ-A2PW-01A-11D-A19J-08 TCGA-DJ-A2PW-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6409f4a-e1fb-4831-8fe7-0a67450f615e d33d4bc0-93b1-46ba-af93-21ad6af330f7 g.chr3:40573621C>G uc003ckm.2 + 4 576 c.360C>G c.(358-360)aaC>aaG p.N120K ZNF621_uc003ckn.2_Missense_Mutation_p.N120K|ZNF621_uc003cko.2_Missense_Mutation_p.N85K|ZNF621_uc011aze.1_Missense_Mutation_p.N112K NM_001098414 NP_940886 Q6ZSS3 ZN621_HUMAN Homo sapiens zinc finger protein 621 (ZNF621), transcript variant 2, mRNA. 120 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2) 21 KIRC - Kidney renal clear cell carcinoma(284;0.0515)|Kidney(284;0.0648) TTCTCAGGAACGTTTCTCAGC 0.413000 9 74 0 0 1 0 0 FAM63B 54629 broad.mit.edu 37 15 59113964 59113964 + Missense_Mutation SNP G G A TCGA-DJ-A2PW-01A-11D-A19J-08 TCGA-DJ-A2PW-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6409f4a-e1fb-4831-8fe7-0a67450f615e d33d4bc0-93b1-46ba-af93-21ad6af330f7 g.chr15:59113964G>A uc002afj.3 + 4 1373 c.1171G>A c.(1171-1173)Gtg>Atg p.V391M FAM63B_uc002afi.3_Missense_Mutation_p.V391M|FAM63B_uc002afk.3_Non-coding_Transcript|FAM63B_uc002afl.3_Non-coding_Transcript NM_001040450 NP_001035540 Q8NBR6 FA63B_HUMAN Homo sapiens family with sequence similarity 63, member B (FAM63B), transcript variant 1, mRNA. 391 central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 15 CAACCAACTAGTGGAGAAGAT 0.388000 7 46 0 0 1 0 0 TNRC6B 23112 broad.mit.edu 37 22 40719206 40719206 + Silent SNP A A T TCGA-DJ-A2PW-01A-11D-A19J-08 TCGA-DJ-A2PW-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6409f4a-e1fb-4831-8fe7-0a67450f615e d33d4bc0-93b1-46ba-af93-21ad6af330f7 g.chr22:40719206A>T uc011aor.2 + 22 5674 c.5463A>T c.(5461-5463)ctA>ctT p.L1821L TNRC6B_uc003aym.3_Silent_p.L1017L|TNRC6B_uc003ayn.4_Silent_p.L1711L NM_001162501 NP_001155973 Q9UPQ9 TNR6B_HUMAN Homo sapiens trinucleotide repeat containing 6B (TNRC6B), transcript variant 1, mRNA. 1821 gene silencing by RNA|regulation of translation cytoplasmic mRNA processing body RNA binding|nucleotide binding breast(1) 1 CTCCTTTACTACCTGGTGACC 0.517000 4 41 0 0 1 0 0 ZNF345 25850 broad.mit.edu 37 19 37368055 37368055 + Missense_Mutation SNP A A T TCGA-DJ-A2PW-01A-11D-A19J-08 TCGA-DJ-A2PW-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6409f4a-e1fb-4831-8fe7-0a67450f615e d33d4bc0-93b1-46ba-af93-21ad6af330f7 g.chr19:37368055A>T uc002oex.3 + 2 704 c.323A>T c.(322-324)cAt>cTt p.H108L ZNF345_uc021utn.1_Missense_Mutation_p.H108L|ZNF345_uc002oey.4_Missense_Mutation_p.H108L|ZNF345_uc002oez.2_Intron|ZNF345_uc021uto.1_Missense_Mutation_p.H108L|ZNF345_uc021utp.1_Missense_Mutation_p.H108L|ZNF345_uc021utq.1_Missense_Mutation_p.H108L NM_003419 NP_003410 Q14585 ZN345_HUMAN Homo sapiens zinc finger protein 345 (ZNF345), transcript variant 1, mRNA. 108 negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter nucleus DNA binding|zinc ion binding breast(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(5)|ovary(2)|prostate(1) 24 Esophageal squamous(110;0.183) COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) CTTGCTTACCATCAAAGAATT 0.423000 10 36 0 0 1 0 0 PPAT 5471 broad.mit.edu 37 4 57301543 57301543 + Missense_Mutation SNP G G A TCGA-DJ-A2PW-01A-11D-A19J-08 TCGA-DJ-A2PW-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6409f4a-e1fb-4831-8fe7-0a67450f615e d33d4bc0-93b1-46ba-af93-21ad6af330f7 g.chr4:57301543G>A uc003hbr.3 - 0 260 c.101C>T c.(100-102)aCt>aTt p.T34I PAICS_uc003hbs.1_5'Flank|PAICS_uc011cac.1_5'Flank|PAICS_uc003hbt.1_5'Flank|PAICS_uc003hbu.1_5'Flank|PAICS_uc010ihd.1_5'Flank NM_002703 NP_002694 Q06203 PUR1_HUMAN Homo sapiens phosphoribosyl pyrophosphate amidotransferase (PPAT), mRNA. 34 Glutamine amidotransferase type-2. glutamine metabolic process|nucleoside metabolic process|purine base biosynthetic process|purine ribonucleoside monophosphate biosynthetic process cytosol 4 iron, 4 sulfur cluster binding|amidophosphoribosyltransferase activity|metal ion binding cervix(1)|endometrium(2)|large_intestine(6)|lung(8)|prostate(2)|upper_aerodigestive_tract(1) 20 Glioma(25;0.08)|all_neural(26;0.101) L-Glutamine(DB00130)|Thioguanine(DB00352) GAGTCCCAGAGTGATCACATG 0.652000 18 83 0 0 1 0 0 AKR1A1 10327 broad.mit.edu 37 1 46032687 46032687 + Silent SNP C C G TCGA-DJ-A2PW-01A-11D-A19J-08 TCGA-DJ-A2PW-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6409f4a-e1fb-4831-8fe7-0a67450f615e d33d4bc0-93b1-46ba-af93-21ad6af330f7 g.chr1:46032687C>G uc021omx.1 + 5 769 c.351C>G c.(349-351)gcC>gcG p.A117A AKR1A1_uc009vxw.3_Silent_p.A117A|AKR1A1_uc021omy.1_Silent_p.A117A|AKR1A1_uc001cod.3_Silent_p.A117A|AKR1A1_uc001coe.3_Silent_p.A117A|AKR1A1_uc001cof.3_5'Flank NM_001202414 NP_001189343 P14550 AK1A1_HUMAN Homo sapiens aldo-keto reductase family 1, member A1 (aldehyde reductase) (AKR1A1), transcript variant 3, mRNA. 117 glucose metabolic process alditol:NADP+ 1-oxidoreductase activity|electron carrier activity|protein binding lung(3)|prostate(1)|urinary_tract(1) 5 Acute lymphoblastic leukemia(166;0.155) GGCCTTATGCCTTTGAGTGAG 0.557000 3 50 0 0 1 0 0 HOOK3 84376 broad.mit.edu 37 8 42819533 42819533 + Missense_Mutation SNP C C G TCGA-DJ-A2PW-01A-11D-A19J-08 TCGA-DJ-A2PW-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6409f4a-e1fb-4831-8fe7-0a67450f615e d33d4bc0-93b1-46ba-af93-21ad6af330f7 g.chr8:42819533C>G uc003xpr.3 + 8 937 c.695C>G c.(694-696)tCt>tGt p.S232C HOOK3_uc010lxq.1_Missense_Mutation_p.S232C NM_032410 NP_115786 Q86VS8 HOOK3_HUMAN Homo sapiens hook homolog 3 (Drosophila) (HOOK3), mRNA. 232 Golgi localization|cytoplasmic microtubule organization|early endosome to late endosome transport|endosome organization|endosome to lysosome transport|interkinetic nuclear migration|lysosome organization|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome|protein transport FHF complex|cis-Golgi network|microtubule|pericentriolar material identical protein binding|microtubule binding NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 31 Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184) all_lung(54;0.000105)|Lung NSC(58;0.000419)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129) Lung(22;0.048)|LUSC - Lung squamous cell carcinoma(45;0.114) CAATCTGATTCTATAGAAGAC 0.413000 T RET papillary thyroid 34 34 0 0 1 0 0 TRPM4 54795 broad.mit.edu 37 19 49713617 49713617 + Nonsense_Mutation SNP C C T TCGA-DJ-A2PW-01A-11D-A19J-08 TCGA-DJ-A2PW-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6409f4a-e1fb-4831-8fe7-0a67450f615e d33d4bc0-93b1-46ba-af93-21ad6af330f7 g.chr19:49713617C>T uc002pmw.3 + 20 3391 c.3283C>T c.(3283-3285)Cga>Tga p.R1095* TRPM4_uc010emu.3_Nonsense_Mutation_p.R950*|TRPM4_uc010yak.2_Nonsense_Mutation_p.R559*|TRPM4_uc002pmx.3_Nonsense_Mutation_p.R921*|TRPM4_uc010emv.3_Nonsense_Mutation_p.R980*|TRPM4_uc010yal.2_Nonsense_Mutation_p.R741*|TRPM4_uc002pmy.3_Nonsense_Mutation_p.R437* NM_017636 NP_060106 Q8TD43 TRPM4_HUMAN Homo sapiens transient receptor potential cation channel, subfamily M, member 4 (TRPM4), transcript variant 1, mRNA. 1095 Calmodulin-binding. dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production Golgi apparatus|endoplasmic reticulum|integral to membrane|plasma membrane ATP binding|calcium activated cation channel activity|calmodulin binding p.R1095*(2) breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 49 all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15) all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751) ATTGTGCAGGCGACCCCGGAG 0.622000 7 48 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-DJ-A2PW-01A-11D-A19J-08 TCGA-DJ-A2PW-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6409f4a-e1fb-4831-8fe7-0a67450f615e d33d4bc0-93b1-46ba-af93-21ad6af330f7 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 33 35 0 0 1 0 0 ANP32C 23520 broad.mit.edu 37 4 165118482 165118482 + Missense_Mutation SNP C C G TCGA-DJ-A2PW-01A-11D-A19J-08 TCGA-DJ-A2PW-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6409f4a-e1fb-4831-8fe7-0a67450f615e d33d4bc0-93b1-46ba-af93-21ad6af330f7 g.chr4:165118482C>G uc011cjk.2 - 0 382 c.382G>C c.(382-384)Gga>Cga p.G128R MARCH1_uc003iqs.2_Intron NM_012403 NP_036535 O43423 AN32C_HUMAN Homo sapiens acidic (leucine-rich) nuclear phosphoprotein 32 family, member C (ANP32C), mRNA. 128 p.G128*(2)|p.G128E(1) NS(2)|breast(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(3)|skin(4) 35 all_hematologic(180;0.203) Prostate(90;0.0138)|Melanoma(52;0.18)|all_neural(102;0.223) KIRC - Kidney renal clear cell carcinoma(143;0.242) ACGTTTTCTCCGTAGTCGTTC 0.458000 30 103 0 0 1 0 0 LRRN1 57633 broad.mit.edu 37 3 3887996 3887996 + Silent SNP G G A TCGA-DJ-A2PW-01A-11D-A19J-08 TCGA-DJ-A2PW-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6409f4a-e1fb-4831-8fe7-0a67450f615e d33d4bc0-93b1-46ba-af93-21ad6af330f7 g.chr3:3887996G>A uc003bpt.4 + 1 2432 c.1671G>A c.(1669-1671)tcG>tcA p.S557S SUMF1_uc003bps.2_Intron|LRRN1_uc021wsh.1_Silent_p.S557S NM_020873 NP_065924 Q6UXK5 LRRN1_HUMAN Homo sapiens leucine rich repeat neuronal 1 (LRRN1), mRNA. 557 Fibronectin type-III. integral to membrane NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2) 26 Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617) TAAAATGGTCGTCTGCCACCA 0.443000 32 163 0 0 1 0 0 FHL3 2275 broad.mit.edu 37 1 38465013 38465013 + Silent SNP G G A TCGA-DJ-A2PW-01A-11D-A19J-08 TCGA-DJ-A2PW-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6409f4a-e1fb-4831-8fe7-0a67450f615e d33d4bc0-93b1-46ba-af93-21ad6af330f7 g.chr1:38465013G>A uc001cck.3 - 1 251 c.72C>T c.(70-72)agC>agT p.S24S FHL3_uc001ccm.3_Intron|FHL3_uc009vvl.2_Silent_p.S24S NM_004468 NP_004459 Q13643 FHL3_HUMAN Homo sapiens four and a half LIM domains 3 (FHL3), transcript variant 1, mRNA. 24 muscle organ development zinc ion binding endometrium(1)|kidney(1)|large_intestine(1)|lung(2) 5 Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197) Myeloproliferative disorder(586;0.0255) AGTAGGGGCCGCTGTCTGTCT 0.547000 7 49 0 0 1 0 0 PEX7 5191 broad.mit.edu 37 6 137147485 137147485 + Missense_Mutation SNP G G A TCGA-DJ-A2PW-01A-11D-A19J-08 TCGA-DJ-A2PW-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6409f4a-e1fb-4831-8fe7-0a67450f615e d33d4bc0-93b1-46ba-af93-21ad6af330f7 g.chr6:137147485G>A uc003qhd.3 + 2 319 c.217G>A c.(217-219)Gtg>Atg p.V73M PEX7_uc010kgx.3_Non-coding_Transcript NM_000288 NP_000279 O00628 PEX7_HUMAN Homo sapiens peroxisomal biogenesis factor 7 (PEX7), mRNA. 73 ether lipid biosynthetic process|protein import into peroxisome matrix peroxisome peroxisome matrix targeting signal-2 binding lung(7)|prostate(1) 8 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.000257)|OV - Ovarian serous cystadenocarcinoma(155;0.00492) TTTGTTTGATGTGACTTGGAG 0.438000 17 149 0 0 1 0 0 OCLN 100506658 broad.mit.edu 37 5 70378643 70378643 + Missense_Mutation SNP C C A TCGA-DJ-A2PW-01A-11D-A19J-08 TCGA-DJ-A2PW-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6409f4a-e1fb-4831-8fe7-0a67450f615e d33d4bc0-93b1-46ba-af93-21ad6af330f7 g.chr5:70378643C>A uc011cru.1 - 1 201 c.133G>T c.(133-135)Gtg>Ttg p.V45L NAIP_uc003kat.1_Intron NM_001205255 NP_001192184 Q16625 OCLN_HUMAN Homo sapiens occludin (OCLN), transcript variant 3, mRNA. 0 cellular component disassembly involved in apoptosis|protein complex assembly integral to membrane|tight junction protein binding|structural molecule activity endometrium(2)|large_intestine(1)|liver(1)|prostate(1)|skin(1) 6 Lung NSC(167;4.15e-05)|Prostate(74;0.00996)|Ovarian(174;0.0448)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;3.04e-60)|Epithelial(20;7.09e-58)|all cancers(19;1.13e-53)|Lung(70;0.0174) GGACTCGCCACCAGTTGTGTA 0.498000 7 24 0 0 1 0 0 PEAK1 79834 broad.mit.edu 37 15 77474126 77474126 + Missense_Mutation SNP T T C TCGA-DJ-A2PW-01A-11D-A19J-08 TCGA-DJ-A2PW-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6409f4a-e1fb-4831-8fe7-0a67450f615e d33d4bc0-93b1-46ba-af93-21ad6af330f7 g.chr15:77474126T>C uc021sqy.1 - 4 719 c.143A>G c.(142-144)aAt>aGt p.N48S PEAK1_uc002bcn.2_Missense_Mutation_p.N48S|PEAK1_uc021sqz.1_5'Flank NM_024776 NP_079052 Q9H792 PEAK1_HUMAN Homo sapiens NKF3 kinase family member (PEAK1), mRNA. 48 cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading actin cytoskeleton|cytoplasm|focal adhesion ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding GTTACTGTGATTGGCATTAGT 0.483000 16 124 0 0 1 0 0 MLL3 58508 broad.mit.edu 37 7 151859891 151859891 + Nonsense_Mutation SNP G G A TCGA-DJ-A2PW-01A-11D-A19J-08 TCGA-DJ-A2PW-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6409f4a-e1fb-4831-8fe7-0a67450f615e d33d4bc0-93b1-46ba-af93-21ad6af330f7 g.chr7:151859891G>A uc003wla.3 - 42 10990 c.10771C>T c.(10771-10773)Cag>Tag p.Q3591* MLL3_uc003wkz.3_Nonsense_Mutation_p.Q2652*|MLL3_uc003wky.3_Nonsense_Mutation_p.Q1100* NM_170606 NP_733751 Q8NEZ4 MLL3_HUMAN Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA. 3591 intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent DNA binding|protein binding|zinc ion binding NS(6)|biliary_tract(9)|breast(24)|central_nervous_system(18)|cervix(6)|endometrium(31)|haematopoietic_and_lymphoid_tissue(1)|kidney(26)|large_intestine(52)|liver(1)|lung(102)|ovary(10)|pancreas(17)|prostate(15)|skin(20)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(8)|urinary_tract(15) 365 all_neural(206;0.187) all_hematologic(28;0.0592)|Prostate(32;0.0906) OV - Ovarian serous cystadenocarcinoma(82;0.00715) UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462) GAATACAACTGAATGAGCGAT 0.433000 N medulloblastoma 5 52 0 0 1 0 0 PPM1D 8493 broad.mit.edu 37 17 58740817 58740818 + Frame_Shift_Del DEL CT CT - TCGA-DJ-A2PW-01A-11D-A19J-08 TCGA-DJ-A2PW-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6409f4a-e1fb-4831-8fe7-0a67450f615e d33d4bc0-93b1-46ba-af93-21ad6af330f7 g.chr17:58740817_58740818delCT uc002iyt.2 + 5 1954_1955 c.1722_1723delCT c.(1720-1725)aactctfs p.N574fs PPM1D_uc010ddm.2_Non-coding_Transcript NM_003620 NP_003611 O15297 PPM1D_HUMAN Homo sapiens protein phosphatase, Mg2+/Mn2+ dependent, 1D (PPM1D), mRNA. 574 negative regulation of cell proliferation|protein dephosphorylation|response to radiation nucleus|protein serine/threonine phosphatase complex metal ion binding|protein binding|protein serine/threonine phosphatase activity haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 15 all_neural(34;0.0878)|Medulloblastoma(34;0.0922) Epithelial(12;6.75e-12)|all cancers(12;1.96e-10) AGCGAAAGAACTCTGTTAAACT 0.465 OREG0031485 type=REGULATORY REGION|TFbs=ESR1|Dataset=Estrogen Receptor Alpha Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS) 22 75 --- --- --- --- IL11 3589 broad.mit.edu 37 19 55877466 55877466 + Frame_Shift_Del DEL C C - TCGA-DJ-A2PW-01A-11D-A19J-08 TCGA-DJ-A2PW-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6409f4a-e1fb-4831-8fe7-0a67450f615e d33d4bc0-93b1-46ba-af93-21ad6af330f7 g.chr19:55877466delC uc002qks.1 - 4 645 c.509delG c.(508-510)ggcfs p.G170fs FAM71E2_uc002qkr.2_5'Flank|FAM71E2_uc002qkq.2_5'Flank|IL11_uc010yfx.1_Frame_Shift_Del_p.G91fs NM_000641 NP_000632 P20809 IL11_HUMAN Homo sapiens interleukin 11 (IL11), mRNA. 170 B cell differentiation|fat cell differentiation|megakaryocyte differentiation|negative regulation of hormone secretion|platelet activation|positive regulation of MAPKKK cascade|positive regulation of cell proliferation|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of transcription from RNA polymerase II promoter extracellular space cytokine activity|growth factor activity|interleukin-11 receptor binding large_intestine(1)|skin(1) 2 Breast(117;0.191) Renal(1328;0.245) BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.044) Oprelvekin(DB00038) GGCCCTGATGCCCCCCCAGGC 0.746 2 4 --- --- --- ---