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 NRXN3 9369 broad.mit.edu 37 14 79933743 79933743 + Missense_Mutation SNP A A T TCGA-EL-A3GY-01A-21D-A202-08 TCGA-EL-A3GY-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx c7977f37-60b9-4d9e-b928-0ac02f1a17e8 a35c71ab-41c7-4fe3-b279-71cbd8449992 g.chr14:79933743A>T ENST00000281127.7 + 2 1306 c.427A>T c.(427-429)Ata>Tta p.I143L NRXN3_ENST00000335750.5_Missense_Mutation_p.I775L|NRXN3_ENST00000557594.1_Missense_Mutation_p.I143L|NRXN3_ENST00000556003.1_3'UTR|NRXN3_ENST00000428277.2_Missense_Mutation_p.I143L|NRXN3_ENST00000554719.1_Missense_Mutation_p.I775L NM_138970.3 NP_620426.2 Q9HDB5 NRX3B_HUMAN neurexin 3 143 Laminin G-like. angiogenesis|cell adhesion integral to membrane NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1) 104 Renal(4;0.00876) BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223) CCAGCTTCACATAGTGAGTAC 0.512000 20 93 0 0 0.007413 0 0 UBBP4 0 broad.mit.edu 37 17 21731144 21731144 + Missense_Mutation SNP T T G rs149119138 by1000genomes TCGA-EL-A3GY-01A-21D-A202-08 TCGA-EL-A3GY-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx c7977f37-60b9-4d9e-b928-0ac02f1a17e8 a35c71ab-41c7-4fe3-b279-71cbd8449992 g.chr17:21731144T>G ENST00000584755.1 + 2 843 c.446T>G c.(445-447)cTg>cGg p.L149R UBBP4_ENST00000583708.1_3'UTR|UBBP4_ENST00000584398.1_3'UTR|UBBP4_ENST00000578713.1_Missense_Mutation_p.L149R p.L149R(18) endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4) 24 GTCCTGCGTCTGAGAGGTGGT 0.542000 6 116 0 0 0.001168 0 0 UBBP4 0 broad.mit.edu 37 17 21731270 21731270 + Missense_Mutation SNP T T C TCGA-EL-A3GY-01A-21D-A202-08 TCGA-EL-A3GY-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx c7977f37-60b9-4d9e-b928-0ac02f1a17e8 a35c71ab-41c7-4fe3-b279-71cbd8449992 g.chr17:21731270T>C ENST00000584755.1 + 2 969 c.572T>C c.(571-573)aTc>aCc p.I191T UBBP4_ENST00000583708.1_3'UTR|UBBP4_ENST00000578713.1_Intron p.I191T(3) endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4) 24 ATCCCCCCGATCAGCAGAGGC 0.547000 3 114 0 0 0.004672 0 0 CSGALNACT1 55790 broad.mit.edu 37 8 19316053 19316053 + Silent SNP G G A rs142456632 byFrequency TCGA-EL-A3GY-01A-21D-A202-08 TCGA-EL-A3GY-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx c7977f37-60b9-4d9e-b928-0ac02f1a17e8 a35c71ab-41c7-4fe3-b279-71cbd8449992 g.chr8:19316053G>A ENST00000454498.2 - 5 1748 c.735C>T c.(733-735)ttC>ttT p.F245F CSGALNACT1_ENST00000311540.4_Silent_p.F245F|CSGALNACT1_ENST00000518542.1_5'UTR|CSGALNACT1_ENST00000332246.6_Silent_p.F245F|CSGALNACT1_ENST00000522854.1_Silent_p.F245F|CSGALNACT1_ENST00000544602.1_Silent_p.F245F NM_001130518.1 NP_001123990.1 Q8TDX6 CGAT1_HUMAN chondroitin sulfate N-acetylgalactosaminyltransferase 1 245 anatomical structure morphogenesis|cell proliferation|cell recognition|chondroitin sulfate biosynthetic process|chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process|extracellular matrix organization|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|heparin biosynthetic process|nervous system development|UDP-glucuronate metabolic process|UDP-N-acetylgalactosamine metabolic process Golgi cisterna membrane|integral to Golgi membrane|soluble fraction glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|glucuronosyltransferase activity|glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|peptidoglycan glycosyltransferase activity NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 Colorectal(111;0.182) TGATGGGGCCGAATGGTCGAA 0.458000 6 354 0 0 0.001984 0 0 PCDHA10 0 broad.mit.edu 37 5 140237249 140237249 + Missense_Mutation SNP G G C TCGA-EL-A3GY-01A-21D-A202-08 TCGA-EL-A3GY-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx c7977f37-60b9-4d9e-b928-0ac02f1a17e8 a35c71ab-41c7-4fe3-b279-71cbd8449992 g.chr5:140237249G>C ENST00000307360.5 + 1 1616 c.1616G>C c.(1615-1617)gGg>gCg p.G539A PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron NM_018901.2|NM_031859.1 NP_061724.1|NP_114065.1 p.G539A(2) NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2) 79 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCGCGCGATGGGGGCGTGCCG 0.687000 5 173 0 0 0.001984 0 0 AGO2 27161 broad.mit.edu 37 8 141549494 141549494 + Silent SNP G G A TCGA-EL-A3GY-01A-21D-A202-08 TCGA-EL-A3GY-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx c7977f37-60b9-4d9e-b928-0ac02f1a17e8 a35c71ab-41c7-4fe3-b279-71cbd8449992 g.chr8:141549494G>A ENST00000220592.5 - 16 2206 c.2094C>T c.(2092-2094)taC>taT p.Y698Y AGO2_ENST00000519980.1_Silent_p.Y698Y NM_012154.3 NP_036286.2 argonaute RISC catalytic component 2 TCCCGGGCTGGTAGTCTTTTT 0.557000 11 105 0 0 0.008291 0 0 ITGB1 3688 broad.mit.edu 37 10 33215004 33215004 + Missense_Mutation SNP G G C TCGA-EL-A3GY-01A-21D-A202-08 TCGA-EL-A3GY-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx c7977f37-60b9-4d9e-b928-0ac02f1a17e8 a35c71ab-41c7-4fe3-b279-71cbd8449992 g.chr10:33215004G>C ENST00000396033.2 - 6 716 c.581C>G c.(580-582)cCt>cGt p.P194R ITGB1_ENST00000302278.3_Missense_Mutation_p.P194R|ITGB1_ENST00000374956.4_Missense_Mutation_p.P194R|ITGB1_ENST00000484088.1_5'UTR|ITGB1_ENST00000423113.1_Missense_Mutation_p.P194R NM_133376.2 NP_596867.1 P05556 ITB1_HUMAN integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12) 194 VWFA. axon guidance|blood coagulation|cell-cell adhesion mediated by integrin|cell-matrix adhesion|cellular defense response|homophilic cell adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|leukocyte migration|positive regulation of apoptosis|regulation of immune response cell surface|cleavage furrow|focal adhesion|melanosome|neuromuscular junction|ruffle|sarcolemma identical protein binding|protein heterodimerization activity|receptor activity autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 Ovarian(717;1.34e-05)|Breast(68;0.0634) GCTAATGTAAGGCATCACAGT 0.403000 6 108 0 0 0.001984 0 0 BTN2A1 11120 broad.mit.edu 37 6 26465519 26465519 + Missense_Mutation SNP A A T TCGA-EL-A3GY-01A-21D-A202-08 TCGA-EL-A3GY-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx c7977f37-60b9-4d9e-b928-0ac02f1a17e8 a35c71ab-41c7-4fe3-b279-71cbd8449992 g.chr6:26465519A>T ENST00000429381.1 + 5 1031 c.819A>T c.(817-819)caA>caT p.Q273H BTN2A1_ENST00000469185.1_Missense_Mutation_p.Q273H|BTN2A1_ENST00000312541.5_Missense_Mutation_p.Q273H|BTN2A1_ENST00000541522.1_Missense_Mutation_p.Q212H Q7KYR7 BT2A1_HUMAN butyrophilin, subfamily 2, member A1 273 lipid metabolic process integral to plasma membrane breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(3) 27 ACAAACTCCAAAAGGAAAAAA 0.433000 11 166 0 0 0.008291 0 0 MYO18A 399687 broad.mit.edu 37 17 27425124 27425124 + Splice_Site SNP T T G TCGA-EL-A3GY-01A-21D-A202-08 TCGA-EL-A3GY-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx c7977f37-60b9-4d9e-b928-0ac02f1a17e8 a35c71ab-41c7-4fe3-b279-71cbd8449992 g.chr17:27425124T>G ENST00000527372.1 - 25 4169 c.3990_splice c.e25+1 p.Q1330_splice MYO18A_ENST00000354329.4_Splice_Site_p.Q1330_splice|MYO18A_ENST00000533112.1_Splice_Site_p.Q1330_splice|MYO18A_ENST00000531253.1_Splice_Site_p.Q1330_splice NM_078471.3 NP_510880.2 Q92614 MY18A_HUMAN myosin XVIIIA 1330 anti-apoptosis|DNA metabolic process ER-Golgi intermediate compartment|myosin complex ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2) 36 Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031) TGCCCTCACCTGCAGTTCCTT 0.612000 10 249 0 0 0.006214 0 0 ZNRF4 148066 broad.mit.edu 37 19 5455622 5455622 + Silent SNP G G A TCGA-EL-A3GY-01A-21D-A202-08 TCGA-EL-A3GY-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx c7977f37-60b9-4d9e-b928-0ac02f1a17e8 a35c71ab-41c7-4fe3-b279-71cbd8449992 g.chr19:5455622G>A ENST00000222033.4 + 1 197 c.120G>A c.(118-120)agG>agA p.R40R NM_181710.3 NP_859061.3 Q8WWF5 ZNRF4_HUMAN zinc and ring finger 4 40 integral to membrane zinc ion binding NS(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 16 UCEC - Uterine corpus endometrioid carcinoma (162;0.0002) CTGGCCACAGGCCCCCTGGGA 0.657000 4 79 0 0 0.000248 0 0 PM20D1 148811 broad.mit.edu 37 1 205814502 205814502 + Missense_Mutation SNP T T C TCGA-EL-A3GY-01A-21D-A202-08 TCGA-EL-A3GY-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx c7977f37-60b9-4d9e-b928-0ac02f1a17e8 a35c71ab-41c7-4fe3-b279-71cbd8449992 g.chr1:205814502T>C ENST00000367136.4 - 3 484 c.440A>G c.(439-441)gAt>gGt p.D147G PM20D1_ENST00000460624.1_5'UTR NM_152491.4 NP_689704.4 Q6GTS8 P20D1_HUMAN peptidase M20 domain containing 1 147 extracellular region metal ion binding|peptidase activity breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1) 28 Breast(84;0.201) BRCA - Breast invasive adenocarcinoma(75;0.0252) GATGATGCCATCACGCTCCAA 0.567000 4 172 0 0 0.001168 0 0 TRIP10 9322 broad.mit.edu 37 19 6741105 6741105 + Missense_Mutation SNP G G A TCGA-EL-A3GY-01A-21D-A202-08 TCGA-EL-A3GY-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx c7977f37-60b9-4d9e-b928-0ac02f1a17e8 a35c71ab-41c7-4fe3-b279-71cbd8449992 g.chr19:6741105G>A ENST00000313244.9 + 2 144 c.109G>A c.(109-111)Gaa>Aaa p.E37K TRIP10_ENST00000596758.1_Missense_Mutation_p.E37K|TRIP10_ENST00000596543.1_3'UTR|TRIP10_ENST00000313285.8_Missense_Mutation_p.E37K|TRIP10_ENST00000600428.1_5'UTR Q15642 CIP4_HUMAN thyroid hormone receptor interactor 10 37 FCH.|Induction of membrane tubulation.|Required for podosome formation and interaction with AKAP9 and microtubules.|Required for translocation to the plasma membrane in response to insulin (By similarity). actin cytoskeleton organization|cell communication|endocytosis|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cell cortex|cell projection|cytoskeleton|cytosol|Golgi apparatus|lysosome|perinuclear region of cytoplasm|phagocytic cup GTPase activator activity|identical protein binding|lipid binding NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1) 16 AGAACGCACCGAAGTGGAACA 0.627000 4 100 0 0 0.000248 0 0 ATP13A4 84239 broad.mit.edu 37 3 193120598 193120598 + Missense_Mutation SNP T T C TCGA-EL-A3GY-01A-21D-A202-08 TCGA-EL-A3GY-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx c7977f37-60b9-4d9e-b928-0ac02f1a17e8 a35c71ab-41c7-4fe3-b279-71cbd8449992 g.chr3:193120598T>C ENST00000342695.4 - 30 3756 c.3434A>G c.(3433-3435)tAt>tGt p.Y1145C ATP13A4_ENST00000400270.2_Missense_Mutation_p.Y161C|ATP13A4_ENST00000482964.1_5'UTR|ATP13A4_ENST00000392443.3_Missense_Mutation_p.Y1126C NM_032279.2 NP_115655.2 Q4VNC1 AT134_HUMAN ATPase type 13A4 1145 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2) 71 all_cancers(143;1.76e-08)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;0.000109) TTTTGACTGATAGCCGAAACA 0.443000 3 71 0 0 0.004672 0 0 CD48 962 broad.mit.edu 37 1 160651146 160651146 + Silent SNP A A G TCGA-EL-A3GY-01A-21D-A202-08 TCGA-EL-A3GY-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx c7977f37-60b9-4d9e-b928-0ac02f1a17e8 a35c71ab-41c7-4fe3-b279-71cbd8449992 g.chr1:160651146A>G ENST00000368046.3 - 3 585 c.498T>C c.(496-498)taT>taC p.Y166Y RP11-404F10.2_ENST00000443928.2_RNA|RP11-404F10.2_ENST00000588034.1_RNA NM_001778.3 NP_001769.2 P09326 CD48_HUMAN CD48 molecule 166 Ig-like C2-type 2. blood coagulation|defense response|leukocyte migration integral to plasma membrane|membrane raft protein binding breast(2)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|stomach(1) 10 all_cancers(52;2.18e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.0175) TTTTGTCCCCATACCAGGTGT 0.448000 4 230 0 0 0.001168 0 0 NADK 65220 broad.mit.edu 37 1 1686902 1686902 + Missense_Mutation SNP G G A TCGA-EL-A3GY-01A-21D-A202-08 TCGA-EL-A3GY-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx c7977f37-60b9-4d9e-b928-0ac02f1a17e8 a35c71ab-41c7-4fe3-b279-71cbd8449992 g.chr1:1686902G>A ENST00000344463.4 - 9 1255 c.1034C>T c.(1033-1035)cCg>cTg p.P345L NADK_ENST00000342348.5_Missense_Mutation_p.P168L|NADK_ENST00000341991.3_Missense_Mutation_p.P200L|NADK_ENST00000341426.5_Missense_Mutation_p.P200L|NADK_ENST00000378625.1_Missense_Mutation_p.P345L O95544 NADK_HUMAN NAD kinase 200 ATP metabolic process|NAD metabolic process|water-soluble vitamin metabolic process cytosol ATP binding|metal ion binding|NAD+ kinase activity|protein binding NS(1)|autonomic_ganglia(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|stomach(1)|urinary_tract(1) 17 all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;5.61e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128) Epithelial(90;8.75e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.33e-23)|GBM - Glioblastoma multiforme(42;1.35e-07)|Colorectal(212;0.000203)|COAD - Colon adenocarcinoma(227;0.000225)|Kidney(185;0.00265)|STAD - Stomach adenocarcinoma(132;0.00655)|BRCA - Breast invasive adenocarcinoma(365;0.00855)|KIRC - Kidney renal clear cell carcinoma(229;0.0382)|Lung(427;0.207) GGCCATGACCGGAGGGACGCT 0.617000 4 195 0 0 0.000248 0 0 PCDHGA5 0 broad.mit.edu 37 5 140745315 140745315 + Missense_Mutation SNP C C G TCGA-EL-A3GY-01A-21D-A202-08 TCGA-EL-A3GY-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx c7977f37-60b9-4d9e-b928-0ac02f1a17e8 a35c71ab-41c7-4fe3-b279-71cbd8449992 g.chr5:140745315C>G ENST00000518069.1 + 1 1418 c.1418C>G c.(1417-1419)tCt>tGt p.S473C PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron NM_018918.2|NM_032054.1 NP_061741.1|NP_114443.1 endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3) 18 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TCTATCTTCTCTGTGACAGCC 0.532000 16 275 0 0 0.004007 0 0 MAP1A 4130 broad.mit.edu 37 15 43816306 43816306 + Missense_Mutation SNP C C A TCGA-EL-A3GY-01A-21D-A202-08 TCGA-EL-A3GY-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx c7977f37-60b9-4d9e-b928-0ac02f1a17e8 a35c71ab-41c7-4fe3-b279-71cbd8449992 g.chr15:43816306C>A ENST00000382031.1 + 5 3380 c.3349C>A c.(3349-3351)Cgt>Agt p.R1117S MAP1A_ENST00000300231.5_Missense_Mutation_p.R879S|MAP1A_ENST00000399453.1_Missense_Mutation_p.R879S P78559 MAP1A_HUMAN microtubule-associated protein 1A 879 cytoplasm|microtubule|microtubule associated complex protein binding|structural molecule activity breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 66 all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;3.05e-06) Estramustine(DB01196) CCCTTCCTCCCGTACTGAAGC 0.562000 5 109 0.000602214 0.00101803 0.000602 1 0 STX4 6810 broad.mit.edu 37 16 31050875 31050875 + Missense_Mutation SNP A A G TCGA-EL-A3GY-01A-21D-A202-08 TCGA-EL-A3GY-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx c7977f37-60b9-4d9e-b928-0ac02f1a17e8 a35c71ab-41c7-4fe3-b279-71cbd8449992 g.chr16:31050875A>G ENST00000394998.1 + 10 1053 c.710A>G c.(709-711)aAt>aGt p.N237S STX4_ENST00000493902.1_3'UTR|STX4_ENST00000313843.3_Missense_Mutation_p.N239S NM_001272096.1 NP_001259025.1 Q12846 STX4_HUMAN syntaxin 4 239 Interaction with CENPF (By similarity).|t-SNARE coiled-coil homology. intracellular protein transport|platelet activation|post-Golgi vesicle-mediated transport basolateral plasma membrane|cell surface|cytosol|integral to membrane|plasma membrane enriched fraction|specific granule|vacuole SNAP receptor activity NS(2)|breast(1)|large_intestine(3)|lung(3) 9 GAGATGATCAATCGGATTGAG 0.567000 7 145 0 0 0.003080 0 0 NBPF10 100132406 broad.mit.edu 37 1 145367767 145367767 + Missense_Mutation SNP G G A rs77484671 TCGA-EL-A3GY-01A-21D-A202-08 TCGA-EL-A3GY-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx c7977f37-60b9-4d9e-b928-0ac02f1a17e8 a35c71ab-41c7-4fe3-b279-71cbd8449992 g.chr1:145367767G>A ENST00000342960.5 + 83 10398 c.10363G>A c.(10363-10365)Gaa>Aaa p.E3455K NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron NM_001039703.4 NP_001034792.4 A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 3455 p.E3455K(5) 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) atcaaagaaggaaagaagaag 0.423000 5 63 0 0 0.000602 0 0 NBN 4683 broad.mit.edu 37 8 90958472 90958472 + Silent SNP A A G TCGA-EL-A3GY-01A-21D-A202-08 TCGA-EL-A3GY-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx c7977f37-60b9-4d9e-b928-0ac02f1a17e8 a35c71ab-41c7-4fe3-b279-71cbd8449992 g.chr8:90958472A>G ENST00000265433.3 - 13 2120 c.1966T>C c.(1966-1968)Ttg>Ctg p.L656L NBN_ENST00000409330.1_Silent_p.L574L NM_002485.4 NP_002476.2 O60934 NBN_HUMAN nibrin 656 cell cycle arrest|DNA damage response, signal transduction by p53 class mediator|DNA duplex unwinding|double-strand break repair via homologous recombination|meiosis|mitotic cell cycle G1/S transition checkpoint|mitotic cell cycle G2/M transition DNA damage checkpoint|positive regulation of kinase activity|positive regulation of protein autophosphorylation|regulation of DNA-dependent DNA replication initiation|telomere maintenance Mre11 complex|nuclear chromosome, telomeric region|nuclear inclusion body|nucleolus|nucleoplasm protein N-terminus binding|transcription factor binding autonomic_ganglia(1)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 27 BRCA - Breast invasive adenocarcinoma(11;0.0344) AATTCAGTCAATAACAGCTTT 0.318000 Homologous recombination 4 146 0 0 0.000248 0 0 ETV1 2115 broad.mit.edu 37 7 13971268 13971268 + Missense_Mutation SNP G G C TCGA-EL-A3GY-01A-21D-A202-08 TCGA-EL-A3GY-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx c7977f37-60b9-4d9e-b928-0ac02f1a17e8 a35c71ab-41c7-4fe3-b279-71cbd8449992 g.chr7:13971268G>C ENST00000343495.5 - 8 1345 c.607C>G c.(607-609)Ccc>Gcc p.P203A ETV1_ENST00000476720.2_5'UTR|ETV1_ENST00000405218.2_Missense_Mutation_p.P221A|ETV1_ENST00000405358.4_Missense_Mutation_p.P235A|ETV1_ENST00000403685.1_Missense_Mutation_p.P203A|ETV1_ENST00000405192.2_Missense_Mutation_p.P221A|ETV1_ENST00000430479.1_Missense_Mutation_p.P221A|ETV1_ENST00000242066.5_Missense_Mutation_p.P203A|ETV1_ENST00000403527.1_Missense_Mutation_p.P181A|ETV1_ENST00000420159.2_Missense_Mutation_p.P163A|ETV1_ENST00000399357.3_Missense_Mutation_p.P118A P50549 ETV1_HUMAN ets variant 1 221 transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity TMPRSS2/ETV1(34)|ACSL3_ENST00000357430/ETV1(2)|EWSR1/ETV1(7)|KLK2/ETV1(3)|SLC45A3/ETV1(3)|HNRNPA2B1/ETV1(8) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 31 GGTGGGAAGGGGATGTTTGGC 0.552000 T """EWSR1, TMPRSS2, SLC45A3, C15orf21, HNRNPA2B1. ACSL3""" """Ewing sarcoma, prostate""" 5 58 0 0 0.001984 0 0 MBOAT2 129642 broad.mit.edu 37 2 9083336 9083336 + Missense_Mutation SNP T T C TCGA-EL-A3GY-01A-21D-A202-08 TCGA-EL-A3GY-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx c7977f37-60b9-4d9e-b928-0ac02f1a17e8 a35c71ab-41c7-4fe3-b279-71cbd8449992 g.chr2:9083336T>C ENST00000305997.3 - 3 477 c.279A>G c.(277-279)atA>atG p.I93M MBOAT2_ENST00000486484.1_5'UTR NM_138799.2 NP_620154.2 Q6ZWT7 MBOA2_HUMAN membrane bound O-acyltransferase domain containing 2 93 phospholipid biosynthetic process integral to membrane 1-acylglycerol-3-phosphate O-acyltransferase activity MBOAT2/PRKCE(2) endometrium(2)|kidney(1)|large_intestine(9)|lung(2)|skin(1) 15 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) TCTCCACTCCTATGATGATCA 0.318000 3 105 0 0 0.000248 0 0 UGT2A2 0 broad.mit.edu 37 4 70505149 70505149 + Silent SNP G G A TCGA-EL-A3GY-01A-21D-A202-08 TCGA-EL-A3GY-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx c7977f37-60b9-4d9e-b928-0ac02f1a17e8 a35c71ab-41c7-4fe3-b279-71cbd8449992 g.chr4:70505149G>A ENST00000457664.2 - 1 209 c.210C>T c.(208-210)atC>atT p.I70I UGT2A1_ENST00000503640.1_Intron|UGT2A1_ENST00000514019.1_Silent_p.I271I|UGT2A1_ENST00000286604.4_Intron|UGT2A1_ENST00000512704.1_Intron NM_001105677.2 NP_001099147.2 GATTGGAGTTGATGAATAGAG 0.358000 8 133 0 0 0.003080 0 0 HSD17B7P2 0 broad.mit.edu 37 10 38654432 38654432 + RNA SNP A A G rs2257765 TCGA-EL-A3GY-01A-21D-A202-08 TCGA-EL-A3GY-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx c7977f37-60b9-4d9e-b928-0ac02f1a17e8 a35c71ab-41c7-4fe3-b279-71cbd8449992 g.chr10:38654432A>G ENST00000494540.1 + 0 599 NR_003086.1 TCATCTCGCAATGCAAGGAAA 0.453000 3 64 0 0 0.004672 0 0 CYP11A1 1583 broad.mit.edu 37 15 74659919 74659919 + Missense_Mutation SNP G G C TCGA-EL-A3GY-01A-21D-A202-08 TCGA-EL-A3GY-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx c7977f37-60b9-4d9e-b928-0ac02f1a17e8 a35c71ab-41c7-4fe3-b279-71cbd8449992 g.chr15:74659919G>C ENST00000268053.6 - 1 162 c.8C>G c.(7-9)gCc>gGc p.A3G CYP11A1_ENST00000541301.1_Missense_Mutation_p.A3G|CYP11A1_ENST00000467407.1_5'UTR NM_000781.2 NP_000772.2 P05108 CP11A_HUMAN cytochrome P450, family 11, subfamily A, polypeptide 1 3 C21-steroid hormone biosynthetic process|cholesterol metabolic process|vitamin D metabolic process|xenobiotic metabolic process mitochondrial matrix cholesterol monooxygenase (side-chain-cleaving) activity|electron carrier activity|heme binding breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 20 Aminoglutethimide(DB00357)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Clotrimazole(DB00257)|Digitoxin(DB01396)|Digoxin(DB00390)|Medroxyprogesterone(DB00603)|Ouabain(DB01092)|Progesterone(DB00396)|Testosterone(DB00624)|Trilostane(DB01108) AAGACCCTTGGCCAGCATGCT 0.627000 9 38 0 0 0.004482 0 0 USP34 9736 broad.mit.edu 37 2 61417450 61417450 + Missense_Mutation SNP A A G TCGA-EL-A3GY-01A-21D-A202-08 TCGA-EL-A3GY-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx c7977f37-60b9-4d9e-b928-0ac02f1a17e8 a35c71ab-41c7-4fe3-b279-71cbd8449992 g.chr2:61417450A>G ENST00000398571.2 - 78 9905 c.9829T>C c.(9829-9831)Tcc>Ccc p.S3277P NM_014709.3 NP_055524.3 Q70CQ2 UBP34_HUMAN ubiquitin specific peptidase 34 3277 positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2) 138 Epithelial(17;0.229) ACTCGGTTGGAGAAATCAGAC 0.408000 3 148 0 0 0.000248 0 0 DLAT 1737 broad.mit.edu 37 11 111933176 111933176 + Missense_Mutation SNP C C T TCGA-EL-A3GY-01A-21D-A202-08 TCGA-EL-A3GY-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx c7977f37-60b9-4d9e-b928-0ac02f1a17e8 a35c71ab-41c7-4fe3-b279-71cbd8449992 g.chr11:111933176C>T ENST00000280346.6 + 14 2520 c.1861C>T c.(1861-1863)Cgg>Tgg p.R621W DLAT_ENST00000537636.1_Missense_Mutation_p.R392W|DLAT_ENST00000393051.1_Missense_Mutation_p.R516W NM_001931.4 NP_001922.2 P10515 ODP2_HUMAN dihydrolipoamide S-acetyltransferase 621 Catalytic (By similarity). glycolysis|regulation of acetyl-CoA biosynthetic process from pyruvate mitochondrial pyruvate dehydrogenase complex dihydrolipoyllysine-residue acetyltransferase activity|protein binding breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1) 22 all_cancers(61;4.53e-11)|all_epithelial(67;2.76e-06)|Melanoma(852;9.42e-06)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0512)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663) Epithelial(105;4.87e-07)|BRCA - Breast invasive adenocarcinoma(274;6.83e-07)|all cancers(92;9.63e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0557) NADH(DB00157) TTGTGATCACCGGGTGGTGGA 0.388000 4 212 0 0 0.000602 0 0 ABL1 25 broad.mit.edu 37 9 133753888 133753888 + Missense_Mutation SNP G G A TCGA-EL-A3GY-01A-21D-A202-08 TCGA-EL-A3GY-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx c7977f37-60b9-4d9e-b928-0ac02f1a17e8 a35c71ab-41c7-4fe3-b279-71cbd8449992 g.chr9:133753888G>A ENST00000318560.5 + 8 1738 c.1357G>A c.(1357-1359)Gag>Aag p.E453K NM_005157.4 NP_005148.2 P00519 ABL1_HUMAN c-abl oncogene 1, non-receptor tyrosine kinase 453 Protein kinase. actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm ATP binding|DNA binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding p.E453Q(1) breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 1195 all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;5.4e-05) Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619) TGAGCTGCTAGAGAAGGACTA 0.507000 """T, Mis""" """BCR, ETV6, NUP214""" """CML, ALL, T-ALL""" 5 303 0 0 0.001168 0 0 GPATCH8 23131 broad.mit.edu 37 17 42478100 42478100 + Missense_Mutation SNP C C T TCGA-EL-A3GY-01A-21D-A202-08 TCGA-EL-A3GY-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx c7977f37-60b9-4d9e-b928-0ac02f1a17e8 a35c71ab-41c7-4fe3-b279-71cbd8449992 g.chr17:42478100C>T ENST00000434000.1 - 9 1393 c.1111G>A c.(1111-1113)Gca>Aca p.A371T GPATCH8_ENST00000591680.1_Missense_Mutation_p.A449T Q9UKJ3 GPTC8_HUMAN G patch domain containing 8 449 intracellular nucleic acid binding|zinc ion binding breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 50 Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.206) TGGCTTGCTGCCGCCTTGATG 0.502000 OREG0024461 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 296 0 0 0.000602 0 0 DNM1P47 0 broad.mit.edu 37 15 102304772 102304772 + RNA SNP T T C TCGA-EL-A3GY-01A-21D-A202-08 TCGA-EL-A3GY-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx c7977f37-60b9-4d9e-b928-0ac02f1a17e8 a35c71ab-41c7-4fe3-b279-71cbd8449992 g.chr15:102304772T>C ENST00000561463.1 + 0 12818 CACAGCGGCGTGACGAGACTC 0.587000 6 18 0 0 0.008291 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-EL-A3GY-01A-21D-A202-08 TCGA-EL-A3GY-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx c7977f37-60b9-4d9e-b928-0ac02f1a17e8 a35c71ab-41c7-4fe3-b279-71cbd8449992 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 32 63 0 0 0.003271 0 0 AC008103.5 0 broad.mit.edu 37 22 18844766 18844766 + RNA SNP G G A TCGA-EL-A3GY-01A-21D-A202-08 TCGA-EL-A3GY-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx c7977f37-60b9-4d9e-b928-0ac02f1a17e8 a35c71ab-41c7-4fe3-b279-71cbd8449992 g.chr22:18844766G>A ENST00000412938.1 + 0 3016 CAGCCTCTGAGGGCAGCAGTG 0.557000 4 24 0 0 0.000248 0 0 TM2D3 80213 broad.mit.edu 37 15 102182710 102182710 + Missense_Mutation SNP C C T TCGA-EL-A3GY-01A-21D-A202-08 TCGA-EL-A3GY-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx c7977f37-60b9-4d9e-b928-0ac02f1a17e8 a35c71ab-41c7-4fe3-b279-71cbd8449992 g.chr15:102182710C>T ENST00000561373.1 - 4 1077 c.521G>A c.(520-522)gGa>gAa p.G174E TM2D3_ENST00000347970.3_Missense_Mutation_p.G213E|TM2D3_ENST00000333202.3_Missense_Mutation_p.G239E|TM2D3_ENST00000559107.1_Intron|TM2D3_ENST00000428002.2_Intron Q9BRN9 TM2D3_HUMAN TM2 domain containing 3 239 integral to membrane central_nervous_system(1)|endometrium(2)|lung(6)|ovary(1) 10 Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505) OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23) ATCTGCTGGTCCAACATAGCC 0.537000 8 178 0 0 0.006214 0 0 LRRC42 115353 broad.mit.edu 37 1 54426067 54426067 + Missense_Mutation SNP A A T TCGA-EL-A3GY-01A-21D-A202-08 TCGA-EL-A3GY-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx c7977f37-60b9-4d9e-b928-0ac02f1a17e8 a35c71ab-41c7-4fe3-b279-71cbd8449992 g.chr1:54426067A>T ENST00000371370.3 + 5 1165 c.644A>T c.(643-645)gAt>gTt p.D215V LRRC42_ENST00000319223.4_Missense_Mutation_p.D215V NM_001256409.1 NP_001243338.1 Q9Y546 LRC42_HUMAN leucine rich repeat containing 42 215 breast(2)|kidney(1)|large_intestine(1)|lung(5) 9 TGTTTATCTGATGCTGGGGTG 0.368000 22 140 0 0 0.003954 0 0 AC074391.1 0 broad.mit.edu 37 2 65738863 65738863 + RNA DEL G G - TCGA-EL-A3GY-01A-21D-A202-08 TCGA-EL-A3GY-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx c7977f37-60b9-4d9e-b928-0ac02f1a17e8 a35c71ab-41c7-4fe3-b279-71cbd8449992 g.chr2:65738863delG ENST00000377977.3 + 0 862 TTTTTTTTTTGTCCAGGAGGC 0.303 5 4 --- --- --- --- RP11-615J4.3 0 broad.mit.edu 37 3 111197863 111197868 + RNA DEL CACACA CACACA - rs71968470 TCGA-EL-A3GY-01A-21D-A202-08 TCGA-EL-A3GY-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx c7977f37-60b9-4d9e-b928-0ac02f1a17e8 a35c71ab-41c7-4fe3-b279-71cbd8449992 g.chr3:111197863_111197868delCACACA ENST00000497896.1 - 0 208 CGAACAGCCTcacacacacacacaca 0.544 3 3 --- --- --- --- RP11-649A16.1 0 broad.mit.edu 37 3 146995077 146995077 + RNA DEL A A - TCGA-EL-A3GY-01A-21D-A202-08 TCGA-EL-A3GY-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx c7977f37-60b9-4d9e-b928-0ac02f1a17e8 a35c71ab-41c7-4fe3-b279-71cbd8449992 g.chr3:146995077delA ENST00000473299.1 - 0 132 TCTGGACTGtaaaaaaaaaaa 0.294 3 5 --- --- --- --- TG 7038 broad.mit.edu 37 8 133980057 133980058 + Frame_Shift_Ins INS - - TT TCGA-EL-A3GY-01A-21D-A202-08 TCGA-EL-A3GY-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx c7977f37-60b9-4d9e-b928-0ac02f1a17e8 a35c71ab-41c7-4fe3-b279-71cbd8449992 g.chr8:133980057_133980058insTT ENST00000220616.4 + 31 5745_5746 c.5705_5706insTT c.(5704-5706)tttfs p.F1902fs TG_ENST00000542445.1_Frame_Shift_Ins_p.F272fs|TG_ENST00000519543.1_Frame_Shift_Ins_p.F56fs|TG_ENST00000377869.1_Frame_Shift_Ins_p.F1845fs NM_003235.4 NP_003226.4 P01266 THYG_HUMAN thyroglobulin 1902 hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation extracellular space hormone activity NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8) 168 Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735) BRCA - Breast invasive adenocarcinoma(115;0.000701) KIRC - Kidney renal clear cell carcinoma(542;0.0546) CAGGAGCACTCTTTCTGTCAGC 0.495 7 58 --- --- --- --- HMGB1 3146 broad.mit.edu 37 13 31035567 31035569 + In_Frame_Del DEL TCC TCC - TCGA-EL-A3GY-01A-21D-A202-08 TCGA-EL-A3GY-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx c7977f37-60b9-4d9e-b928-0ac02f1a17e8 a35c71ab-41c7-4fe3-b279-71cbd8449992 g.chr13:31035567_31035569delTCC ENST00000405805.1 - 5 1513_1515 c.573_575delGGA c.(571-576)gaa>ga p.EE191del HMGB1_ENST00000399489.1_3'UTR|HMGB1_ENST00000399494.1_In_Frame_Del_p.EE191del|HMGB1_ENST00000341423.5_In_Frame_Del_p.EE191del|HMGB1_ENST00000339872.4_In_Frame_Del_p.EE191del P09429 HMGB1_HUMAN high mobility group box 1 191 Asp/Glu-rich (acidic). base-excision repair, DNA ligation|dendritic cell chemotaxis|DNA fragmentation involved in apoptotic nuclear change|DNA topological change|inflammatory response to antigenic stimulus|innate immune response|myeloid dendritic cell activation|negative regulation of RNA polymerase II transcriptional preinitiation complex assembly|neuron projection development|positive regulation of apoptosis|positive regulation of caspase activity|positive regulation of DNA binding|positive regulation of transcription from RNA polymerase II promoter|V(D)J recombination cell surface|condensed chromosome|extracellular space|nucleolus|nucleoplasm chemoattractant activity|cytokine activity|damaged DNA binding|DNA bending activity|double-stranded DNA binding|RAGE receptor binding|repressing transcription factor binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(1)|ovary(1) 8 Lung SC(185;0.0257) all cancers(112;0.072)|OV - Ovarian serous cystadenocarcinoma(117;0.177)|Lung(94;0.216)|GBM - Glioblastoma multiforme(144;0.232) ctcttcatcttcctcatcttcct 0.399 4 4 --- --- --- ---