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 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 ENST00000412232.2 + 13 1998 c.1985G>A c.(1984-1986)cGc>cAc p.R662H GPR124_ENST00000315215.7_Intron NM_032777.9 NP_116166.9 Q96PE1 GP124_HUMAN G protein-coupled receptor 124 662 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 0.047766 0 0 PRNP 5621 broad.mit.edu 37 20 4680251 4680251 + Missense_Mutation SNP A A G rs1799990 byFrequency 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.chr20:4680251A>G ENST00000379440.4 + 2 672 c.385A>G c.(385-387)Atg>Gtg p.M129V PRNP_ENST00000430350.2_Missense_Mutation_p.M129V NM_000311.3|NM_001080121.1|NM_001080122.1|NM_001080123.1|NM_001271561.1|NM_183079.2 NP_000302.1|NP_001073590.1|NP_001073591.1|NP_001073592.1|NP_001258490.1|NP_898902.1 P04156 PRIO_HUMAN prion protein 129 Interaction with GRB2, ERI3 and SYN1 (By similarity). M -> V (polymorphism; determines the disease phenotype in patients who have a PrP mutation at position 178. Patients with M-129 develop FFI, those with V-129 develop CJD; dbSNP:rs1799990). axon guidance|cell cycle arrest|cellular copper ion homeostasis|metabolic process|negative regulation of activated T cell proliferation|negative regulation of calcineurin-NFAT signaling pathway|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-2 production|negative regulation of protein phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of T cell receptor signaling pathway|protein homooligomerization|response to oxidative stress anchored to membrane|endoplasmic reticulum|extrinsic to membrane|Golgi apparatus|membrane raft|nucleus|plasma membrane copper ion binding|identical protein binding|microtubule binding p.M129V(2) central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1) 14 Tetracycline(DB00759) TGGCGGCTACATGCTGGGAAG 0.547000 4 47 0 0 0.009096 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 ENST00000454349.2 + 23 5674 c.5463A>T c.(5461-5463)ctA>ctT p.L1821L TNRC6B_ENST00000402203.1_Silent_p.L1017L|TNRC6B_ENST00000335727.8_Silent_p.L1711L|TNRC6B_ENST00000301923.9_Silent_p.L1017L NM_001162501.1 NP_001155973.1 Q9UPQ9 TNR6B_HUMAN trinucleotide repeat containing 6B 1821 gene silencing by RNA|regulation of translation cytoplasmic mRNA processing body nucleotide binding|RNA binding breast(1) 1 CTCCTTTACTACCTGGTGACC 0.517000 4 41 0 0 0.014758 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 ENST00000373016.3 - 2 240 c.72C>T c.(70-72)agC>agT p.S24S FHL3_ENST00000485803.1_Intron NM_001243878.1|NM_004468.4 NP_001230807.1|NP_004459.2 Q13643 FHL3_HUMAN four and a half LIM domains 3 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 0.029380 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 ENST00000264220.2 - 1 238 c.101C>T c.(100-102)aCt>aTt p.T34I NM_002703.4 NP_002694.3 Q06203 PUR1_HUMAN phosphoribosyl pyrophosphate amidotransferase 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 0.069288 0 0 NBPF1 55672 broad.mit.edu 37 1 16918653 16918653 + Splice_Site 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.chr1:16918653C>T ENST00000430580.2 - 6 853 c.e6+1 NM_017940.3 NP_060410.2 Q3BBV0 NBPF1_HUMAN neuroblastoma breakpoint family, member 1 cytoplasm UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179) TCTTAACTTACTGTTGTGAAA 0.418000 4 42 0 0 0.021553 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 ENST00000541292.1 + 3 303 c.217G>A c.(217-219)Gtg>Atg p.V73M PEX7_ENST00000318471.4_Missense_Mutation_p.V73M|PEX7_ENST00000367756.4_Missense_Mutation_p.V73M O00628 PEX7_HUMAN peroxisomal biogenesis factor 7 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 0.033300 0 0 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 ENST00000297405.5 - 35 5915 c.5671G>A c.(5671-5673)Ggc>Agc p.G1891S CSMD3_ENST00000352409.3_Missense_Mutation_p.G1821S|CSMD3_ENST00000455883.2_Missense_Mutation_p.G1787S|CSMD3_ENST00000343508.3_Missense_Mutation_p.G1851S NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 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 0.058154 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 ENST00000559228.1 + 5 1253 c.1171G>A c.(1171-1173)Gtg>Atg p.V391M FAM63B_ENST00000450403.2_Missense_Mutation_p.V391M Q8NBR6 FA63B_HUMAN family with sequence similarity 63, member B 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 0.047766 0 0 HSD17B7P2 0 broad.mit.edu 37 10 38654432 38654432 + RNA SNP A A G rs2257765 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.chr10:38654432A>G ENST00000494540.1 + 0 599 NR_003086.1 TCATCTCGCAATGCAAGGAAA 0.453000 3 33 0 0 0.004672 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 ENST00000252826.5 + 21 3409 c.3283C>T c.(3283-3285)Cga>Tga p.R1095* TRPM4_ENST00000355712.5_Nonsense_Mutation_p.R741*|TRPM4_ENST00000427978.2_Nonsense_Mutation_p.R950* NM_017636.3 NP_060106.2 Q8TD43 TRPM4_HUMAN transient receptor potential cation channel, subfamily M, member 4 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 endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane ATP binding|calcium activated cation channel activity|calmodulin binding p.R1095*(1) 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 0.029380 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 ENST00000339296.5 + 5 812 c.360C>G c.(358-360)aaC>aaG p.N120K ZNF621_ENST00000490457.1_Intron|ZNF621_ENST00000431278.1_Missense_Mutation_p.N9K|ZNF621_ENST00000403205.2_Missense_Mutation_p.N120K|ZNF621_ENST00000310898.1_Missense_Mutation_p.N120K NM_198484.3 NP_940886.1 Q6ZSS3 ZN621_HUMAN zinc finger protein 621 120 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 0.058154 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 ENST00000529555.1 + 2 1111 c.323A>T c.(322-324)cAt>cTt p.H108L ZNF345_ENST00000589046.1_Missense_Mutation_p.H108L|ZNF345_ENST00000420450.1_Missense_Mutation_p.H108L|ZNF345_ENST00000526123.1_Intron|ZNF345_ENST00000432005.2_Intron Q14585 ZN345_HUMAN zinc finger protein 345 108 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 0.058154 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 ENST00000307602.4 + 9 895 c.695C>G c.(694-696)tCt>tGt p.S232C NM_032410.3 NP_115786.1 Q86VS8 HOOK3_HUMAN hook microtubule-tethering protein 3 232 cytoplasmic microtubule organization|early endosome to late endosome transport|endosome organization|endosome to lysosome transport|Golgi localization|interkinetic nuclear migration|lysosome organization|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome|protein transport cis-Golgi network|FHF complex|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 0.069456 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 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 33 35 0 0 0.054565 0 0 RP11-798G7.5 0 broad.mit.edu 37 17 43587576 43587576 + RNA SNP A A G rs145439557 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.chr17:43587576A>G ENST00000253803.2 + 0 267 LRRC37A4P_ENST00000579913.1_RNA tctgaaaagaaaagaaaaaaa 0.428000 4 30 0 0 0.009096 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 ENST00000319331.3 + 2 2432 c.1671G>A c.(1669-1671)tcG>tcA p.S557S SUMF1_ENST00000534863.1_Intron NM_020873.5 NP_065924.3 Q6UXK5 LRRN1_HUMAN leucine rich repeat neuronal 1 557 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 0.064281 0 0 RP11-798G7.5 0 broad.mit.edu 37 17 43587569 43587569 + RNA SNP G G C rs149697015 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.chr17:43587569G>C ENST00000253803.2 + 0 267 LRRC37A4P_ENST00000579913.1_RNA aactccgtctgaaaagaaaag 0.443000 4 21 0 0 0.009096 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 ENST00000560626.2 - 4 618 c.143A>G c.(142-144)aAt>aGt p.N48S PEAK1_ENST00000312493.4_Missense_Mutation_p.N48S|PEAK1_ENST00000558305.1_Missense_Mutation_p.N48S Q9H792 PEAK1_HUMAN pseudopodium-enriched atypical kinase 1 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 0.038395 0 0 KMT2C 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 ENST00000355193.2 - 43 10989 c.10771C>T c.(10771-10773)Cag>Tag p.Q3591* KMT2C_ENST00000262189.6_Nonsense_Mutation_p.Q3591* lysine (K)-specific methyltransferase 2C GAATACAACTGAATGAGCGAT 0.433000 5 52 0 0 0.021553 0 0 RP11-343N15.1 0 broad.mit.edu 37 1 121137791 121137793 + RNA DEL CCA CCA - rs28552466 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.chr1:121137791_121137793delCCA ENST00000437515.1 - 0 329 ATTTCGCCCTCCACCGCCGCCGC 0.631 6 11 --- --- --- --- CTD-2509G16.5 0 broad.mit.edu 37 14 65747997 65747997 + RNA 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.chr14:65747997delC ENST00000553754.1 - 0 300 GATTTTCTTTCtttctttttt 0.488 3 3 --- --- --- --- 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 ENST00000305921.3 + 6 1954_1955 c.1722_1723delCT c.(1720-1725)aactfs p.NS574fs NM_003620.3 NP_003611.1 O15297 PPM1D_HUMAN protein phosphatase, Mg2+/Mn2+ dependent, 1D 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) 27 81 --- --- --- --- 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 ENST00000264563.2 - 5 571 c.509delG c.(508-510)gcfs p.G170fs IL11_ENST00000585513.1_Frame_Shift_Del_p.G170fs|IL11_ENST00000590625.1_Frame_Shift_Del_p.G91fs NM_000641.3 NP_000632.1 P20809 IL11_HUMAN interleukin 11 170 B cell differentiation|fat cell differentiation|megakaryocyte differentiation|negative regulation of hormone secretion|platelet activation|positive regulation of cell proliferation|positive regulation of MAPKKK cascade|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 --- --- --- --- RP1-85F18.5 0 broad.mit.edu 37 22 41586192 41586193 + RNA DEL CA CA - rs76554533 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.chr22:41586192_41586193delCA ENST00000420537.1 - 0 223 TCTTCAAAGGCaaaaaaaaaaa 0.411 2 4 --- --- --- ---