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 SBF1 6305 broad.mit.edu 37 22 50893710 50893710 + Silent SNP G G A TCGA-HC-7742-01A-11D-2114-08 TCGA-HC-7742-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx b134ed52-c6fa-45eb-a4af-1d84cbf013d8 c8565d71-27c7-400a-bd9b-97fd79a7e8e7 g.chr22:50893710G>A ENST00000380817.2 - 33 4680 c.4497C>T c.(4495-4497)gcC>gcT p.A1499A SBF1_ENST00000348911.6_Silent_p.A1474A|SBF1_ENST00000390679.3_Silent_p.A1473A NM_002972.2 NP_002963.2 O95248 MTMR5_HUMAN SET binding factor 1 1473 Myotubularin phosphatase. protein dephosphorylation integral to membrane|nucleus protein tyrosine/serine/threonine phosphatase activity breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1) 43 all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247) TGCTCTGCCCGGCCAGGGTGT 0.667000 4 32 0 0 1 0 0 AC024560.3 0 broad.mit.edu 37 3 197348668 197348668 + RNA SNP C C G rs79940815 by1000genomes TCGA-HC-7742-01A-11D-2114-08 TCGA-HC-7742-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx b134ed52-c6fa-45eb-a4af-1d84cbf013d8 c8565d71-27c7-400a-bd9b-97fd79a7e8e7 g.chr3:197348668C>G ENST00000418868.1 - 0 591 NR_003266.2 ACTTGAGGCTCTGTCCACCAA 0.488000 3 119 0 0 1 0 0 WDR83 84292 broad.mit.edu 37 19 12780860 12780860 + Missense_Mutation SNP C C A TCGA-HC-7742-01A-11D-2114-08 TCGA-HC-7742-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx b134ed52-c6fa-45eb-a4af-1d84cbf013d8 c8565d71-27c7-400a-bd9b-97fd79a7e8e7 g.chr19:12780860C>A ENST00000418543.3 + 4 522 c.173C>A c.(172-174)aCg>aAg p.T58K WDR83OS_ENST00000596731.1_5'UTR|WDR83_ENST00000242796.4_Missense_Mutation_p.T58K NM_001099737.2 NP_001093207.1 Q9BRX9 WDR83_HUMAN WD repeat domain 83 58 nuclear mRNA splicing, via spliceosome catalytic step 2 spliceosome|cytoplasm breast(2)|large_intestine(1)|lung(1) 4 CTTCGGGGGACGCTGCTGCGG 0.677000 3 75 1 1 1 1 0 NBPF10 100132406 broad.mit.edu 37 1 145302714 145302714 + Silent SNP A A G rs9424867 TCGA-HC-7742-01A-11D-2114-08 TCGA-HC-7742-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx b134ed52-c6fa-45eb-a4af-1d84cbf013d8 c8565d71-27c7-400a-bd9b-97fd79a7e8e7 g.chr1:145302714A>G ENST00000342960.5 + 8 1187 c.1152A>G c.(1150-1152)ttA>ttG p.L384L NBPF10_ENST00000369339.2_Silent_p.L113L|RP11-458D21.5_ENST00000468030.1_3'UTR|NBPF10_ENST00000369338.1_Silent_p.L113L NM_001039703.4 NP_001034792.4 A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 384 p.L113L(3)|p.L384L(3) 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) AGGAGAAGTTACGGGAAGGGA 0.527000 3 150 0 0 1 0 0 ELAVL2 1993 broad.mit.edu 37 9 23731123 23731123 + Splice_Site SNP C C G TCGA-HC-7742-01A-11D-2114-08 TCGA-HC-7742-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx b134ed52-c6fa-45eb-a4af-1d84cbf013d8 c8565d71-27c7-400a-bd9b-97fd79a7e8e7 g.chr9:23731123C>G ENST00000397312.2 - 3 504 c.229_splice c.e3-1 p.G77_splice ELAVL2_ENST00000223951.6_Splice_Site_p.G77_splice|ELAVL2_ENST00000380117.1_Splice_Site_p.G77_splice|ELAVL2_ENST00000544538.1_Splice_Site_p.G77_splice|ELAVL2_ENST00000380110.4_Splice_Site_p.G106_splice NM_004432.3 NP_004423.2 Q12926 ELAV2_HUMAN ELAV like neuron-specific RNA binding protein 2 77 RRM 1. regulation of transcription, DNA-dependent mRNA 3'-UTR binding|nucleotide binding|protein binding breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1) 39 GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19) CAAGCTCTGCCCTAATGAAAA 0.393000 17 28 0 0 1 0 0 PACS2 23241 broad.mit.edu 37 14 105849745 105849745 + Missense_Mutation SNP G G A TCGA-HC-7742-01A-11D-2114-08 TCGA-HC-7742-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx b134ed52-c6fa-45eb-a4af-1d84cbf013d8 c8565d71-27c7-400a-bd9b-97fd79a7e8e7 g.chr14:105849745G>A ENST00000447393.1 + 16 1850 c.1675G>A c.(1675-1677)Gga>Aga p.G559R PACS2_ENST00000551743.1_Missense_Mutation_p.G69R|PACS2_ENST00000547217.1_Missense_Mutation_p.G525R|PACS2_ENST00000430725.2_Missense_Mutation_p.G480R|PACS2_ENST00000458164.2_Missense_Mutation_p.G559R|PACS2_ENST00000325438.8_Missense_Mutation_p.G555R NM_015197.3 NP_056012.2 Q86VP3 PACS2_HUMAN phosphofurin acidic cluster sorting protein 2 555 apoptosis|interspecies interaction between organisms endoplasmic reticulum lumen|mitochondrion endometrium(2)|kidney(2)|lung(7)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1) 21 all_cancers(154;0.0351)|all_epithelial(191;0.153)|Melanoma(154;0.155) OV - Ovarian serous cystadenocarcinoma(23;0.0145)|Epithelial(46;0.036) Epithelial(152;0.138) CGCCGTGGCGGGAGCGCAGCA 0.642000 3 111 0 0 1 0 0 DNM1P47 0 broad.mit.edu 37 15 102304772 102304772 + RNA SNP T T C TCGA-HC-7742-01A-11D-2114-08 TCGA-HC-7742-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx b134ed52-c6fa-45eb-a4af-1d84cbf013d8 c8565d71-27c7-400a-bd9b-97fd79a7e8e7 g.chr15:102304772T>C ENST00000561463.1 + 0 12818 CACAGCGGCGTGACGAGACTC 0.587000 3 35 0 0 1 0 0 MECOM 2122 broad.mit.edu 37 3 168819875 168819875 + Missense_Mutation SNP C C T TCGA-HC-7742-01A-11D-2114-08 TCGA-HC-7742-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx b134ed52-c6fa-45eb-a4af-1d84cbf013d8 c8565d71-27c7-400a-bd9b-97fd79a7e8e7 g.chr3:168819875C>T ENST00000464456.1 - 9 3353 c.2153G>A c.(2152-2154)cGg>cAg p.R718Q MECOM_ENST00000468789.1_Missense_Mutation_p.R727Q|MECOM_ENST00000494292.1_Missense_Mutation_p.R906Q|MECOM_ENST00000460814.1_Missense_Mutation_p.R718Q|MECOM_ENST00000433243.2_Missense_Mutation_p.R728Q|MECOM_ENST00000472280.1_Missense_Mutation_p.R728Q|MECOM_ENST00000392736.3_Missense_Mutation_p.R727Q|MECOM_ENST00000264674.3_Missense_Mutation_p.R792Q NM_001164000.1 NP_001157472.1 Q13465 MDS1_HUMAN MDS1 and EVI1 complex locus 0 sequence-specific DNA binding transcription factor activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4) 85 CTTTCCCTTCCGCAGAAGGTT 0.502000 15 41 0 0 1 0 0 C6 729 broad.mit.edu 37 5 41159224 41159224 + Nonsense_Mutation SNP G G A TCGA-HC-7742-01A-11D-2114-08 TCGA-HC-7742-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx b134ed52-c6fa-45eb-a4af-1d84cbf013d8 c8565d71-27c7-400a-bd9b-97fd79a7e8e7 g.chr5:41159224G>A ENST00000263413.3 - 12 2080 c.1816C>T c.(1816-1818)Cga>Tga p.R606* C6_ENST00000337836.5_Nonsense_Mutation_p.R606* NM_001115131.1 NP_001108603.2 P13671 CO6_HUMAN complement component 6 606 TSP type-1 3. complement activation, classical pathway|cytolysis|innate immune response membrane attack complex protein binding central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2) 96 Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157) TCCTCTTGTCGCTTCTCCCCC 0.468000 49 115 0 0 1 0 0 ZNF296 162979 broad.mit.edu 37 19 45579626 45579626 + Silent SNP G G A TCGA-HC-7742-01A-11D-2114-08 TCGA-HC-7742-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx b134ed52-c6fa-45eb-a4af-1d84cbf013d8 c8565d71-27c7-400a-bd9b-97fd79a7e8e7 g.chr19:45579626G>A ENST00000303809.2 - 1 220 c.6C>T c.(4-6)tcC>tcT p.S2S NM_145288.1 NP_660331.1 Q8WUU4 ZN296_HUMAN zinc finger protein 296 2 regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|lung(3)|prostate(1)|urinary_tract(2) 7 CCTTGCGGCGGGACATGAGTC 0.751000 3 41 0 0 1 0 0 CTB-52I2.8 0 broad.mit.edu 37 19 18092575 18092575 + RNA SNP G G A TCGA-HC-7742-01A-11D-2114-08 TCGA-HC-7742-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx b134ed52-c6fa-45eb-a4af-1d84cbf013d8 c8565d71-27c7-400a-bd9b-97fd79a7e8e7 g.chr19:18092575G>A ENST00000601725.1 + 0 191 CTGCGAGCGCGTGTTCCTCAT 0.662000 11 44 0 0 1 0 0 ZNF844 284391 broad.mit.edu 37 19 12187275 12187275 + Missense_Mutation SNP G G C TCGA-HC-7742-01A-11D-2114-08 TCGA-HC-7742-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx b134ed52-c6fa-45eb-a4af-1d84cbf013d8 c8565d71-27c7-400a-bd9b-97fd79a7e8e7 g.chr19:12187275G>C ENST00000439326.3 + 4 1515 c.1340G>C c.(1339-1341)cGt>cCt p.R447P ZNF844_ENST00000441304.2_3'UTR NM_001136501.1 NP_001129973.1 Q08AG5 ZN844_HUMAN zinc finger protein 844 447 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.R447P(1) NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(1)|prostate(1) 10 GAGAGAAACCGTATGAGTGTA 0.433000 3 95 0 0 1 0 0 C9orf172 389813 broad.mit.edu 37 9 139740894 139740894 + Missense_Mutation SNP G G T TCGA-HC-7742-01A-11D-2114-08 TCGA-HC-7742-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx b134ed52-c6fa-45eb-a4af-1d84cbf013d8 c8565d71-27c7-400a-bd9b-97fd79a7e8e7 g.chr9:139740894G>T ENST00000436881.1 + 1 2028 c.2028G>T c.(2026-2028)atG>atT p.M676I NM_001080482.2 NP_001073951.2 C9J069 CI172_HUMAN chromosome 9 open reading frame 172 676 endometrium(2)|large_intestine(1)|lung(6) 9 CCGAGACCATGTTCAACGCCT 0.692000 3 48 1 1 1 1 0 ZNF799 90576 broad.mit.edu 37 19 12501446 12501446 + Missense_Mutation SNP T T C TCGA-HC-7742-01A-11D-2114-08 TCGA-HC-7742-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx b134ed52-c6fa-45eb-a4af-1d84cbf013d8 c8565d71-27c7-400a-bd9b-97fd79a7e8e7 g.chr19:12501446T>C ENST00000419318.1 - 4 2419 c.1670A>G c.(1669-1671)gAa>gGa p.E557G CTD-3105H18.14_ENST00000435033.1_Intron|ZNF799_ENST00000430385.3_Missense_Mutation_p.E589G Q96GE5 ZN799_HUMAN zinc finger protein 799 589 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2) 19 TTCCTTACATTCATACGGGTT 0.413000 4 53 0 0 1 0 0 TRPM5 29850 broad.mit.edu 37 11 2432663 2432663 + Missense_Mutation SNP G G A TCGA-HC-7742-01A-11D-2114-08 TCGA-HC-7742-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx b134ed52-c6fa-45eb-a4af-1d84cbf013d8 c8565d71-27c7-400a-bd9b-97fd79a7e8e7 g.chr11:2432663G>A ENST00000452833.1 - 18 2715 c.2707C>T c.(2707-2709)Cgc>Tgc p.R903C TRPM5_ENST00000155858.6_Missense_Mutation_p.R901C|TRPM5_ENST00000533060.1_Missense_Mutation_p.R901C|TRPM5_ENST00000528453.1_Missense_Mutation_p.R901C Q9NZQ8 TRPM5_HUMAN transient receptor potential cation channel, subfamily M, member 5 901 integral to membrane|plasma membrane receptor activity|voltage-gated ion channel activity breast(1)|central_nervous_system(1)|endometrium(4)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2) 23 Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311) BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191) CACTCCAGGCGGCCGTCATGG 0.617000 19 27 0 0 1 0 0 XCL1 6375 broad.mit.edu 37 1 168549329 168549329 + Missense_Mutation SNP G G C TCGA-HC-7742-01A-11D-2114-08 TCGA-HC-7742-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx b134ed52-c6fa-45eb-a4af-1d84cbf013d8 c8565d71-27c7-400a-bd9b-97fd79a7e8e7 g.chr1:168549329G>C ENST00000367818.3 + 2 255 c.90G>C c.(88-90)agG>agC p.R30S NM_002995.2 NP_002986.1 P47992 XCL1_HUMAN chemokine (C motif) ligand 1 30 CD4-positive, alpha-beta T cell proliferation|CD8-positive, alpha-beta T cell proliferation|cell-cell signaling|cellular response to interleukin-4|cellular response to transforming growth factor beta stimulus|immunoglobulin production in mucosal tissue|lymphocyte chemotaxis|negative regulation of interferon-gamma production|negative regulation of interleukin-2 production|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of T cell cytokine production|negative regulation of T-helper 1 cell activation|negative regulation of transcription, DNA-dependent|neutrophil chemotaxis|positive regulation of activated T cell proliferation|positive regulation of B cell chemotaxis|positive regulation of granzyme A production|positive regulation of granzyme B production|positive regulation of interleukin-10 production|positive regulation of natural killer cell chemotaxis|positive regulation of neutrophil chemotaxis|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of T cell chemotaxis|positive regulation of T cell cytokine production|positive regulation of T cell mediated cytotoxicity|positive regulation of thymocyte migration|positive regulation of transforming growth factor-beta production|regulation of inflammatory response|release of sequestered calcium ion into cytosol|response to virus|T-helper 1 cell cytokine production|T-helper 2 cell cytokine production extracellular space chemokine activity|protein homodimerization activity kidney(2)|lung(7)|upper_aerodigestive_tract(1) 10 all_hematologic(923;0.208) CAGATAAGAGGACCTGTGTGA 0.458000 19 71 0 0 1 0 0 OR2F2 135948 broad.mit.edu 37 7 143632698 143632698 + Missense_Mutation SNP G G A TCGA-HC-7742-01A-11D-2114-08 TCGA-HC-7742-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx b134ed52-c6fa-45eb-a4af-1d84cbf013d8 c8565d71-27c7-400a-bd9b-97fd79a7e8e7 g.chr7:143632698G>A ENST00000408955.2 + 1 440 c.373G>A c.(373-375)Gct>Act p.A125T NM_001004685.1 NP_001004685.1 O95006 OR2F2_HUMAN olfactory receptor, family 2, subfamily F, member 2 125 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(19)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1) 32 Melanoma(164;0.0903) CCGCCATGTGGCTGTGTCTGA 0.557000 35 89 0 0 1 0 0 TSC22D1 8848 broad.mit.edu 37 13 45148696 45148696 + Silent SNP T T C TCGA-HC-7742-01A-11D-2114-08 TCGA-HC-7742-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx b134ed52-c6fa-45eb-a4af-1d84cbf013d8 c8565d71-27c7-400a-bd9b-97fd79a7e8e7 g.chr13:45148696T>C ENST00000458659.2 - 1 2005 c.1515A>G c.(1513-1515)caA>caG p.Q505Q TSC22D1_ENST00000501704.2_Silent_p.Q505Q NM_183422.3 NP_904358.2 Q15714 T22D1_HUMAN TSC22 domain family, member 1 505 Gln-rich. transcription from RNA polymerase II promoter cytoplasm|nucleus protein binding|sequence-specific DNA binding transcription factor activity breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262) GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118) gttgctgttgttgttgttgtt 0.507000 42 80 0 0 1 0 0 IGDCC3 9543 broad.mit.edu 37 15 65667629 65667629 + Missense_Mutation SNP C C T TCGA-HC-7742-01A-11D-2114-08 TCGA-HC-7742-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx b134ed52-c6fa-45eb-a4af-1d84cbf013d8 c8565d71-27c7-400a-bd9b-97fd79a7e8e7 g.chr15:65667629C>T ENST00000327987.4 - 2 466 c.215G>A c.(214-216)cGa>cAa p.R72Q NM_004884.3 NP_004875.2 Q8IVU1 IGDC3_HUMAN immunoglobulin superfamily, DCC subclass, member 3 72 Ig-like C2-type 1. breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 30 CCAGGTGATTCGCACTGGAGG 0.592000 13 32 0 0 1 0 0 RYR2 6262 broad.mit.edu 37 1 237982395 237982395 + Silent SNP C C T TCGA-HC-7742-01A-11D-2114-08 TCGA-HC-7742-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx b134ed52-c6fa-45eb-a4af-1d84cbf013d8 c8565d71-27c7-400a-bd9b-97fd79a7e8e7 g.chr1:237982395C>T ENST00000366574.2 + 101 14810 c.14493C>T c.(14491-14493)atC>atT p.I4831I RYR2_ENST00000360064.6_Silent_p.I4837I|RYR2_ENST00000542537.1_Silent_p.I4815I NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 4831 cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding p.I4829I(2) NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) GGGATGAAATCGAAGACCCAG 0.413000 24 41 0 0 1 0 0 IRAK1 3654 broad.mit.edu 37 X 153278063 153278063 + Missense_Mutation SNP C C T TCGA-HC-7742-01A-11D-2114-08 TCGA-HC-7742-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx b134ed52-c6fa-45eb-a4af-1d84cbf013d8 c8565d71-27c7-400a-bd9b-97fd79a7e8e7 g.chrX:153278063C>T ENST00000369980.3 - 13 2164 c.1997G>A c.(1996-1998)cGa>cAa p.R666Q IRAK1_ENST00000393682.1_Missense_Mutation_p.R647Q|IRAK1_ENST00000429936.2_Missense_Mutation_p.R662Q|IRAK1_ENST00000477274.1_Intron|IRAK1_ENST00000393687.2_Missense_Mutation_p.R636Q|IRAK1_ENST00000369974.2_Missense_Mutation_p.R587Q NM_001025242.1|NM_001569.3 NP_001020413.1|NP_001560.2 P51617 IRAK1_HUMAN interleukin-1 receptor-associated kinase 1 666 activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|anti-apoptosis|innate immune response|interleukin-1-mediated signaling pathway|JNK cascade|lipopolysaccharide-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of NF-kappaB transcription factor activity|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|protein autophosphorylation|protein oligomerization|regulation of cytokine-mediated signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transmembrane receptor protein serine/threonine kinase signaling pathway cytosol|endosome membrane|interleukin-1 receptor complex ATP binding|NF-kappaB-inducing kinase activity|protein binding|protein heterodimerization activity|protein homodimerization activity|ubiquitin-protein ligase activity breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(15)|ovary(2) 25 all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) CATCTTCTGTCGGGCAGGGTT 0.632000 31 30 0 0 1 0 0 KLK6 5653 broad.mit.edu 37 19 51462556 51462556 + Missense_Mutation SNP G G A TCGA-HC-7742-01A-11D-2114-08 TCGA-HC-7742-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx b134ed52-c6fa-45eb-a4af-1d84cbf013d8 c8565d71-27c7-400a-bd9b-97fd79a7e8e7 g.chr19:51462556G>A ENST00000376851.3 - 6 1038 c.599C>T c.(598-600)cCg>cTg p.P200L KLK6_ENST00000456750.2_Missense_Mutation_p.P93L|CTB-147C22.8_ENST00000601506.1_RNA|KLK6_ENST00000310157.2_Missense_Mutation_p.P200L|KLK6_ENST00000391808.1_Missense_Mutation_p.P93L|KLK6_ENST00000594641.1_Missense_Mutation_p.P200L|KLK6_ENST00000376853.4_Missense_Mutation_p.R72C NM_001012964.1 NP_001012982.1 Q92876 KLK6_HUMAN kallikrein-related peptidase 6 200 Peptidase S1. amyloid precursor protein metabolic process|central nervous system development|collagen catabolic process|hormone metabolic process|myelination|positive regulation of G-protein coupled receptor protein signaling pathway|protein autoprocessing|proteolysis|regulation of cell differentiation|tissue regeneration endoplasmic reticulum|extracellular region|microsome|mitochondrion|nucleolus protein binding|serine-type endopeptidase activity p.P200L(1) endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|skin(4) 13 all_neural(266;0.026) OV - Ovarian serous cystadenocarcinoma(262;0.00372)|GBM - Glioblastoma multiforme(134;0.00871) ACATACCAGCGGACCCCCAGA 0.527000 18 37 0 0 1 0 0 APOB 338 broad.mit.edu 37 2 21252827 21252827 + Missense_Mutation SNP C C T TCGA-HC-7742-01A-11D-2114-08 TCGA-HC-7742-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx b134ed52-c6fa-45eb-a4af-1d84cbf013d8 c8565d71-27c7-400a-bd9b-97fd79a7e8e7 g.chr2:21252827C>T ENST00000233242.1 - 11 1540 c.1413G>A c.(1411-1413)atG>atA p.M471I APOB_ENST00000399256.4_Missense_Mutation_p.M471I NM_000384.2 NP_000375.2 P04114 APOB_HUMAN apolipoprotein B 471 Vitellogenin. cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6) 305 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) GAATCTGTTCCATCAGGTAAT 0.428000 11 131 0 0 1 0 0 LRRC61 65999 broad.mit.edu 37 7 150034141 150034141 + Missense_Mutation SNP C C T TCGA-HC-7742-01A-11D-2114-08 TCGA-HC-7742-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx b134ed52-c6fa-45eb-a4af-1d84cbf013d8 c8565d71-27c7-400a-bd9b-97fd79a7e8e7 g.chr7:150034141C>T ENST00000359623.4 + 3 779 c.191C>T c.(190-192)gCg>gTg p.A64V LRRC61_ENST00000323078.7_Missense_Mutation_p.A64V|LRRC61_ENST00000493307.1_Missense_Mutation_p.A64V NM_001142928.1 NP_001136400.1 Q9BV99 LRC61_HUMAN leucine rich repeat containing 61 64 endometrium(2)|large_intestine(1)|skin(1)|upper_aerodigestive_tract(1) 5 OV - Ovarian serous cystadenocarcinoma(82;0.011) TCAGGCAACGCGCTCACCCAC 0.652000 4 114 0 0 1 0 0 USP2 9099 broad.mit.edu 37 11 119227592 119227592 + Missense_Mutation SNP C C T TCGA-HC-7742-01A-11D-2114-08 TCGA-HC-7742-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx b134ed52-c6fa-45eb-a4af-1d84cbf013d8 c8565d71-27c7-400a-bd9b-97fd79a7e8e7 g.chr11:119227592C>T ENST00000260187.2 - 13 2065 c.1771G>A c.(1771-1773)Gcc>Acc p.A591T USP2_ENST00000525735.1_Missense_Mutation_p.A382T|USP2_ENST00000455332.2_Missense_Mutation_p.A348T NM_004205.4 NP_004196.4 O75604 UBP2_HUMAN ubiquitin specific peptidase 2 591 cell cycle|muscle organ development|negative regulation of transcription from RNA polymerase II promoter|positive regulation of mitotic cell cycle|protein deubiquitination|protein stabilization|ubiquitin-dependent protein catabolic process nucleus|perinuclear region of cytoplasm cyclin binding|cysteine-type endopeptidase activity|metal ion binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity breast(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1) 24 all_hematologic(192;4.65e-05)|Breast(348;0.0101)|all_neural(223;0.0218)|Medulloblastoma(222;0.0425)|Renal(330;0.157) BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.000513)|Colorectal(284;0.0116)|Lung(307;0.0853)|LUSC - Lung squamous cell carcinoma(976;0.0889) AGCAGGTAGGCGTCGCTGGTG 0.692000 OREG0021404 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 4 0 0 1 0 0 BNIP1 662 broad.mit.edu 37 5 172590800 172590800 + Missense_Mutation SNP G G A rs148150409 byFrequency TCGA-HC-7742-01A-11D-2114-08 TCGA-HC-7742-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx b134ed52-c6fa-45eb-a4af-1d84cbf013d8 c8565d71-27c7-400a-bd9b-97fd79a7e8e7 g.chr5:172590800G>A ENST00000231668.9 + 7 796 c.692G>A c.(691-693)cGg>cAg p.R231Q BNIP1_ENST00000393770.4_Missense_Mutation_p.R154Q|BNIP1_ENST00000352523.6_Missense_Mutation_p.R197Q|BNIP1_ENST00000351486.5_Missense_Mutation_p.R188Q NM_013979.2 NP_053582.2 Q12981 SEC20_HUMAN BCL2/adenovirus E1B 19kDa interacting protein 1 188 anti-apoptosis|apoptosis|endoplasmic reticulum membrane fusion|endoplasmic reticulum organization|induction of apoptosis|vesicle-mediated transport integral to endoplasmic reticulum membrane|nuclear envelope|SNARE complex protein binding breast(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|skin(1) 11 Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351) Medulloblastoma(196;0.0208)|all_neural(177;0.0416) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183) CAGCTGGGCCGGAAGCTTATC 0.488000 3 86 0 0 1 0 0 DLGAP3 58512 broad.mit.edu 37 1 35370062 35370062 + Missense_Mutation SNP G G A rs147968723 TCGA-HC-7742-01A-11D-2114-08 TCGA-HC-7742-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx b134ed52-c6fa-45eb-a4af-1d84cbf013d8 c8565d71-27c7-400a-bd9b-97fd79a7e8e7 g.chr1:35370062G>A ENST00000373347.1 - 3 1191 c.923C>T c.(922-924)tCg>tTg p.S308L DLGAP3_ENST00000235180.4_Missense_Mutation_p.S308L O95886 DLGP3_HUMAN discs, large (Drosophila) homolog-associated protein 3 308 cell-cell signaling cell junction|postsynaptic density|postsynaptic membrane central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1) 46 Myeloproliferative disorder(586;0.0393) GCGGCCTTCCGACCCGCCCGA 0.667000 25 67 0 0 1 0 0 MRPL54 116541 broad.mit.edu 37 19 3762707 3762707 + Silent SNP C C G TCGA-HC-7742-01A-11D-2114-08 TCGA-HC-7742-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx b134ed52-c6fa-45eb-a4af-1d84cbf013d8 c8565d71-27c7-400a-bd9b-97fd79a7e8e7 g.chr19:3762707C>G ENST00000330133.4 + 1 46 c.9C>G c.(7-9)acC>acG p.T3T NM_172251.2 NP_758455.1 Q6P161 RM54_HUMAN mitochondrial ribosomal protein L54 3 mitochondrion|ribosome breast(1)|endometrium(1)|kidney(1)|lung(1)|ovary(1) 5 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00467)|STAD - Stomach adenocarcinoma(1328;0.18) TCATGGCGACCAAACGCCTTT 0.632000 37 105 0 0 1 0 0 ALDH1L1 10840 broad.mit.edu 37 3 125824675 125824675 + Silent SNP G G A TCGA-HC-7742-01A-11D-2114-08 TCGA-HC-7742-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx b134ed52-c6fa-45eb-a4af-1d84cbf013d8 c8565d71-27c7-400a-bd9b-97fd79a7e8e7 g.chr3:125824675G>A ENST00000393434.2 - 22 2896 c.2547C>T c.(2545-2547)gtC>gtT p.V849V ALDH1L1_ENST00000393431.2_3'UTR|ALDH1L1-AS1_ENST00000512384.1_RNA|ALDH1L1_ENST00000472186.1_Silent_p.V849V|ALDH1L1_ENST00000452905.2_Silent_p.V748V|ALDH1L1_ENST00000273450.3_Silent_p.V859V NM_012190.3 NP_036322.2 O75891 AL1L1_HUMAN aldehyde dehydrogenase 1 family, member L1 849 Aldehyde dehydrogenase. 10-formyltetrahydrofolate catabolic process|biosynthetic process acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 52 GBM - Glioblastoma multiforme(114;0.0462) Tetrahydrofolic acid(DB00116) GCTTGTCACTGACATACAGGG 0.552000 5 177 0 0 1 0 0 AC024560.3 0 broad.mit.edu 37 3 197348674 197348674 + RNA SNP A A G rs144273946 by1000genomes TCGA-HC-7742-01A-11D-2114-08 TCGA-HC-7742-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx b134ed52-c6fa-45eb-a4af-1d84cbf013d8 c8565d71-27c7-400a-bd9b-97fd79a7e8e7 g.chr3:197348674A>G ENST00000418868.1 - 0 585 NR_003266.2 GGCTCTGTCCACCAAATGCAC 0.478000 3 133 0 0 1 0 0 SEC31B 25956 broad.mit.edu 37 10 102248628 102248628 + Missense_Mutation SNP G G T TCGA-HC-7742-01A-11D-2114-08 TCGA-HC-7742-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx b134ed52-c6fa-45eb-a4af-1d84cbf013d8 c8565d71-27c7-400a-bd9b-97fd79a7e8e7 g.chr10:102248628G>T ENST00000370345.3 - 24 3372 c.3275C>A c.(3274-3276)tCt>tAt p.S1092Y NM_015490.3 NP_056305.1 Q9NQW1 SC31B_HUMAN SEC31 homolog B (S. cerevisiae) 1092 protein transport|vesicle-mediated transport endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(3)|lung(17)|ovary(1)|urinary_tract(1) 36 Colorectal(252;0.117) Epithelial(162;2.36e-10)|all cancers(201;2.09e-08) GTCAGTTGCAGACAGGGAGCA 0.577000 35 62 6.04917e-29 6.73399e-29 1 1 0 TBC1D5 9779 broad.mit.edu 37 3 17279892 17279892 + Missense_Mutation SNP G G A TCGA-HC-7742-01A-11D-2114-08 TCGA-HC-7742-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx b134ed52-c6fa-45eb-a4af-1d84cbf013d8 c8565d71-27c7-400a-bd9b-97fd79a7e8e7 g.chr3:17279892G>A ENST00000253692.7 - 17 3015 c.1351C>T c.(1351-1353)Ccc>Tcc p.P451S TBC1D5_ENST00000429383.4_Missense_Mutation_p.P451S|TBC1D5_ENST00000429924.2_Missense_Mutation_p.P403S|TBC1D5_ENST00000414318.2_5'UTR|TBC1D5_ENST00000446818.2_Missense_Mutation_p.P451S NM_014744.2 NP_055559.1 Q92609 TBCD5_HUMAN TBC1 domain family, member 5 451 intracellular protein binding|Rab GTPase activator activity NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 36 ATATTCAGGGGAGCACCTTTG 0.388000 12 46 0 0 1 0 0 TMEM132B 114795 broad.mit.edu 37 12 126138738 126138738 + Missense_Mutation SNP G G A TCGA-HC-7742-01A-11D-2114-08 TCGA-HC-7742-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx b134ed52-c6fa-45eb-a4af-1d84cbf013d8 c8565d71-27c7-400a-bd9b-97fd79a7e8e7 g.chr12:126138738G>A ENST00000299308.3 + 9 2727 c.2719G>A c.(2719-2721)Gtc>Atc p.V907I TMEM132B_ENST00000535886.1_Missense_Mutation_p.V419I NM_052907.2 NP_443139.2 Q14DG7 T132B_HUMAN transmembrane protein 132B 907 integral to membrane NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1) 107 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362) CTTGCTCTGCGTCTTCTGTCT 0.522000 26 57 0 0 1 0 0 MOGAT3 346606 broad.mit.edu 37 7 100839218 100839218 + Missense_Mutation SNP C C T TCGA-HC-7742-01A-11D-2114-08 TCGA-HC-7742-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx b134ed52-c6fa-45eb-a4af-1d84cbf013d8 c8565d71-27c7-400a-bd9b-97fd79a7e8e7 g.chr7:100839218C>T ENST00000379423.3 - 6 892 c.832G>A c.(832-834)Gcg>Acg p.A278T MOGAT3_ENST00000223114.4_3'UTR|MOGAT3_ENST00000440203.2_3'UTR Q86VF5 MOGT3_HUMAN monoacylglycerol O-acyltransferase 3 0 glycerol metabolic process|lipid biosynthetic process endoplasmic reticulum membrane|integral to membrane 2-acylglycerol O-acyltransferase activity|diacylglycerol O-acyltransferase activity breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(3) 22 Lung NSC(181;0.168)|all_lung(186;0.215) CGAAAGGCCGCGGCCAGGCCT 0.627000 32 83 0 0 1 0 0 ACTL7B 10880 broad.mit.edu 37 9 111617150 111617150 + Missense_Mutation SNP C C T TCGA-HC-7742-01A-11D-2114-08 TCGA-HC-7742-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx b134ed52-c6fa-45eb-a4af-1d84cbf013d8 c8565d71-27c7-400a-bd9b-97fd79a7e8e7 g.chr9:111617150C>T ENST00000374667.3 - 1 2089 c.1061G>A c.(1060-1062)cGc>cAc p.R354H NM_006686.3 NP_006677.1 Q9Y614 ACL7B_HUMAN actin-like 7B 354 actin cytoskeleton|cytoplasm structural constituent of cytoskeleton p.R354H(2) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 20 CCTCTGGAAGCGCTCGGGGAA 0.677000 16 40 0 0 1 0 0 UPP1 7378 broad.mit.edu 37 7 48141449 48141449 + Missense_Mutation SNP G G A TCGA-HC-7742-01A-11D-2114-08 TCGA-HC-7742-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx b134ed52-c6fa-45eb-a4af-1d84cbf013d8 c8565d71-27c7-400a-bd9b-97fd79a7e8e7 g.chr7:48141449G>A ENST00000331803.4 + 6 814 c.191G>A c.(190-192)cGg>cAg p.R64Q UPP1_ENST00000395564.4_Missense_Mutation_p.R64Q|UPP1_ENST00000482015.1_3'UTR|UPP1_ENST00000341253.4_Missense_Mutation_p.R64Q|UPP1_ENST00000429491.2_Intron Q16831 UPP1_HUMAN uridine phosphorylase 1 64 nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process|pyrimidine nucleoside salvage cytosol uridine phosphorylase activity breast(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(1)|upper_aerodigestive_tract(1) 18 AGCCCCTCCCGGATGAAAGCC 0.567000 25 73 0 0 1 0 0 RAG1 5896 broad.mit.edu 37 11 36595849 36595849 + Missense_Mutation SNP G G A TCGA-HC-7742-01A-11D-2114-08 TCGA-HC-7742-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx b134ed52-c6fa-45eb-a4af-1d84cbf013d8 c8565d71-27c7-400a-bd9b-97fd79a7e8e7 g.chr11:36595849G>A ENST00000299440.5 + 2 1107 c.995G>A c.(994-996)cGa>cAa p.R332Q NM_000448.2 NP_000439.1 P15918 RAG1_HUMAN recombination activating gene 1 332 histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination nucleus endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1) 65 all_lung(20;0.226) all_hematologic(20;0.107) CCCTCTTGCCGATATCCATGC 0.498000 Familial Hemophagocytic Lymphohistiocytosis 25 43 0 0 1 0 0 LAMC2 3918 broad.mit.edu 37 1 183207488 183207488 + Missense_Mutation SNP C C T TCGA-HC-7742-01A-11D-2114-08 TCGA-HC-7742-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx b134ed52-c6fa-45eb-a4af-1d84cbf013d8 c8565d71-27c7-400a-bd9b-97fd79a7e8e7 g.chr1:183207488C>T ENST00000264144.4 + 19 2866 c.2801C>T c.(2800-2802)gCa>gTa p.A934V LAMC2_ENST00000493293.1_Missense_Mutation_p.A934V NM_005562.2 NP_005553.2 Q13753 LAMC2_HUMAN laminin, gamma 2 934 Domain II and I. cell adhesion|epidermis development|hemidesmosome assembly heparin binding breast(2)|endometrium(6)|kidney(8)|large_intestine(11)|lung(18)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 55 AAAAGCAGAGCACAAGAAGCA 0.418000 37 109 0 0 1 0 0 MCHR2 84539 broad.mit.edu 37 6 100390896 100390896 + Silent SNP C C T rs140465249 byFrequency TCGA-HC-7742-01A-11D-2114-08 TCGA-HC-7742-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx b134ed52-c6fa-45eb-a4af-1d84cbf013d8 c8565d71-27c7-400a-bd9b-97fd79a7e8e7 g.chr6:100390896C>T ENST00000281806.2 - 4 830 c.516G>A c.(514-516)tcG>tcA p.S172S MCHR2_ENST00000369212.1_Silent_p.S172S|MCHR2_ENST00000445970.1_Silent_p.S172S NM_001040179.1 NP_001035269.1 Q969V1 MCHR2_HUMAN melanin-concentrating hormone receptor 2 172 integral to membrane|plasma membrane G-protein coupled receptor activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 39 all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069) BRCA - Breast invasive adenocarcinoma(108;0.0429) TGATGACCTTCGAGTAGACCC 0.448000 34 95 0 0 1 0 0 MYPN 84665 broad.mit.edu 37 10 69881296 69881296 + Missense_Mutation SNP G G T TCGA-HC-7742-01A-11D-2114-08 TCGA-HC-7742-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx b134ed52-c6fa-45eb-a4af-1d84cbf013d8 c8565d71-27c7-400a-bd9b-97fd79a7e8e7 g.chr10:69881296G>T ENST00000358913.5 + 2 589 c.101G>T c.(100-102)cGa>cTa p.R34L MYPN_ENST00000540630.1_Missense_Mutation_p.R34L|MYPN_ENST00000354393.2_Intron|MYPN_ENST00000373675.3_Missense_Mutation_p.R34L NM_001256267.1|NM_032578.3 NP_001243196.1|NP_115967.2 Q86TC9 MYPN_HUMAN myopalladin 34 Interaction with CARP. nucleus|sarcomere actin binding breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5) 94 GAGAGGAGTCGAGCGGAGCCC 0.522000 3 77 0.115264 0.119308 1 1 0 TSPAN4 0 broad.mit.edu 37 11 864455 864455 + Missense_Mutation SNP C C G TCGA-HC-7742-01A-11D-2114-08 TCGA-HC-7742-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx b134ed52-c6fa-45eb-a4af-1d84cbf013d8 c8565d71-27c7-400a-bd9b-97fd79a7e8e7 g.chr11:864455C>G ENST00000397404.1 + 5 533 c.274C>G c.(274-276)Ctg>Gtg p.L92V TSPAN4_ENST00000409531.1_Missense_Mutation_p.L111V|TSPAN4_ENST00000397396.1_Missense_Mutation_p.L28V|TSPAN4_ENST00000397411.2_Missense_Mutation_p.L92V|TSPAN4_ENST00000397406.1_Missense_Mutation_p.L92V|TSPAN4_ENST00000409543.2_Missense_Mutation_p.L92V|TSPAN4_ENST00000525201.1_Missense_Mutation_p.L28V|TSPAN4_ENST00000397397.2_Missense_Mutation_p.L92V|TSPAN4_ENST00000397408.1_Missense_Mutation_p.L92V|TSPAN4_ENST00000346501.4_Missense_Mutation_p.L92V NM_001025237.1 NP_001020408.1 O14817 TSN4_HUMAN tetraspanin 4 92 protein complex assembly integral to plasma membrane breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1) 3 all_cancers(49;2.64e-08)|all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24) all cancers(45;4.32e-25)|Epithelial(43;3.29e-24)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) GCTGCTGCTGCTGGTGTTCCT 0.672000 4 180 0 0 1 0 0 C1orf51 148523 broad.mit.edu 37 1 150259209 150259209 + Missense_Mutation SNP G G A TCGA-HC-7742-01A-11D-2114-08 TCGA-HC-7742-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx b134ed52-c6fa-45eb-a4af-1d84cbf013d8 c8565d71-27c7-400a-bd9b-97fd79a7e8e7 g.chr1:150259209G>A ENST00000290363.5 + 5 1450 c.1001G>A c.(1000-1002)cGt>cAt p.R334H C1orf51_ENST00000369094.1_Missense_Mutation_p.R246H|C1orf51_ENST00000369095.1_Missense_Mutation_p.R334H NM_144697.2 NP_653298.1 Q8N365 CA051_HUMAN chromosome 1 open reading frame 51 334 endometrium(3)|large_intestine(2)|lung(3)|urinary_tract(2) 10 Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.171) GAGGGTCCTCGTTGCTACAGT 0.552000 47 122 0 0 1 0 0 TMEM102 284114 broad.mit.edu 37 17 7340279 7340279 + Missense_Mutation SNP G G T TCGA-HC-7742-01A-11D-2114-08 TCGA-HC-7742-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx b134ed52-c6fa-45eb-a4af-1d84cbf013d8 c8565d71-27c7-400a-bd9b-97fd79a7e8e7 g.chr17:7340279G>T ENST00000323206.1 + 3 1254 c.981G>T c.(979-981)tgG>tgT p.W327C TMEM102_ENST00000396568.1_Missense_Mutation_p.W327C|RP11-104H15.7_ENST00000575310.1_RNA|RP11-104H15.9_ENST00000570444.1_RNA NM_178518.2 NP_848613.1 Q8N9M5 TM102_HUMAN transmembrane protein 102 327 regulation of apoptosis|response to cytokine stimulus|signal transduction cell surface|integral to membrane|intracellular protein binding kidney(1)|lung(3)|skin(1) 5 Prostate(122;0.173) TGGCGGGCTGGCCCGAGGGGG 0.726000 3 18 0.000602214 0.000634476 1 1 0 ATP8B2 57198 broad.mit.edu 37 1 154303605 154303605 + Missense_Mutation SNP G G T TCGA-HC-7742-01A-11D-2114-08 TCGA-HC-7742-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx b134ed52-c6fa-45eb-a4af-1d84cbf013d8 c8565d71-27c7-400a-bd9b-97fd79a7e8e7 g.chr1:154303605G>T ENST00000368489.3 + 5 385 c.385G>T c.(385-387)Gat>Tat p.D129Y ATP8B2_ENST00000341822.2_Missense_Mutation_p.D115Y|ATP8B2_ENST00000368487.3_Missense_Mutation_p.D96Y|ATP8B2_ENST00000426445.1_3'UTR NM_020452.3 NP_065185.1 P98198 AT8B2_HUMAN ATPase, aminophospholipid transporter, class I, type 8B, member 2 115 ATP biosynthetic process plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity IL6R/ATP8B2(2) breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 51 all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877) LUSC - Lung squamous cell carcinoma(543;0.185) AGCTGTTAAAGATGCCACTGA 0.488000 21 40 3.5997e-14 3.933e-14 1 1 0 GAR1 54433 broad.mit.edu 37 4 110737454 110737454 + Missense_Mutation SNP G G A TCGA-HC-7742-01A-11D-2114-08 TCGA-HC-7742-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx b134ed52-c6fa-45eb-a4af-1d84cbf013d8 c8565d71-27c7-400a-bd9b-97fd79a7e8e7 g.chr4:110737454G>A ENST00000226796.6 + 2 398 c.134G>A c.(133-135)gGc>gAc p.G45D GAR1_ENST00000394631.3_Missense_Mutation_p.G45D NM_018983.3 NP_061856.1 Q9NY12 GAR1_HUMAN GAR1 ribonucleoprotein 45 RGG-box 1. rRNA processing|snRNA pseudouridine synthesis box H/ACA snoRNP complex|Cajal body cation channel activity|pseudouridine synthase activity|snoRNA binding kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1) 9 agaggcggcggcaggggaggA 0.607000 4 57 0 0 1 0 0 ENTPD6 0 broad.mit.edu 37 20 25205809 25205809 + Missense_Mutation SNP C C G TCGA-HC-7742-01A-11D-2114-08 TCGA-HC-7742-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx b134ed52-c6fa-45eb-a4af-1d84cbf013d8 c8565d71-27c7-400a-bd9b-97fd79a7e8e7 g.chr20:25205809C>G ENST00000433259.2 + 13 1279 c.1153C>G c.(1153-1155)Ctg>Gtg p.L385V ENTPD6_ENST00000376652.4_Intron|ENTPD6_ENST00000354989.5_Intron|ENTPD6_ENST00000360031.2_Intron|ENTPD6_ENST00000485936.1_Intron O75354 ENTP6_HUMAN ectonucleoside triphosphate diphosphohydrolase 6 (putative) 419 Golgi membrane|integral to membrane nucleoside-diphosphatase activity breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|prostate(1)|skin(1) 27 TGGGAGTCACCTGGAGCGTGA 0.642000 5 7 0 0 1 0 0 COASY 80347 broad.mit.edu 37 17 40717505 40717505 + Silent SNP G G T TCGA-HC-7742-01A-11D-2114-08 TCGA-HC-7742-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx b134ed52-c6fa-45eb-a4af-1d84cbf013d8 c8565d71-27c7-400a-bd9b-97fd79a7e8e7 g.chr17:40717505G>T ENST00000393818.2 + 7 1860 c.1404G>T c.(1402-1404)gtG>gtT p.V468V COASY_ENST00000421097.2_Silent_p.V468V|COASY_ENST00000420359.1_Silent_p.V468V|COASY_ENST00000590958.1_Silent_p.V497V|COASY_ENST00000449624.1_Silent_p.V173V NM_025233.6 NP_079509.5 Q13057 COASY_HUMAN CoA synthase 468 DPCK. coenzyme A biosynthetic process|pantothenate metabolic process mitochondrial outer membrane ATP binding|dephospho-CoA kinase activity|pantetheine-phosphate adenylyltransferase activity NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(1) 21 all_cancers(22;1.06e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344) BRCA - Breast invasive adenocarcinoma(366;0.13) GTGTGTGTGTGATTGATGCCG 0.612000 17 49 1.33834e-09 1.43567e-09 1 1 0 ABCA13 154664 broad.mit.edu 37 7 48352729 48352729 + Silent SNP C C T TCGA-HC-7742-01A-11D-2114-08 TCGA-HC-7742-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx b134ed52-c6fa-45eb-a4af-1d84cbf013d8 c8565d71-27c7-400a-bd9b-97fd79a7e8e7 g.chr7:48352729C>T ENST00000435803.1 + 25 9606 c.9582C>T c.(9580-9582)agC>agT p.S3194S NM_152701.3 NP_689914.2 Q86UQ4 ABCAD_HUMAN ATP-binding cassette, sub-family A (ABC1), member 13 3194 transport integral to membrane ATP binding|ATPase activity p.S3139S(1)|p.S3194S(1) breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 270 CCAGCCTCAGCGCCTTGCTTG 0.433000 10 18 0 0 1 0 0 SBF1 6305 broad.mit.edu 37 22 50893710 50893710 + Silent SNP G G A TCGA-HC-7742-01A-11D-2114-08 TCGA-HC-7742-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx b134ed52-c6fa-45eb-a4af-1d84cbf013d8 6fd7283b-c522-4e98-bfff-740d5d01154b g.chr22:50893710G>A ENST00000380817.2 - 33 4680 c.4497C>T c.(4495-4497)gcC>gcT p.A1499A SBF1_ENST00000390679.3_Silent_p.A1473A|SBF1_ENST00000348911.6_Silent_p.A1474A NM_002972.2 NP_002963.2 O95248 MTMR5_HUMAN SET binding factor 1 1473 Myotubularin phosphatase. protein dephosphorylation integral to membrane|nucleus protein tyrosine/serine/threonine phosphatase activity breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1) 43 all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247) TGCTCTGCCCGGCCAGGGTGT 0.667000 4 32 0 0 1 0 0 HMGB3 3149 broad.mit.edu 37 X 150156360 150156360 + Silent SNP G G A TCGA-HC-7742-01A-11D-2114-08 TCGA-HC-7742-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx b134ed52-c6fa-45eb-a4af-1d84cbf013d8 6fd7283b-c522-4e98-bfff-740d5d01154b g.chrX:150156360G>A ENST00000325307.7 + 5 672 c.576G>A c.(574-576)gaG>gaA p.E192E HMGB3_ENST00000448905.2_Silent_p.E192E NM_005342.2 NP_005333.2 O15347 HMGB3_HUMAN high mobility group box 3 192 Asp/Glu-rich (acidic). DNA recombination|multicellular organismal development chromosome|nucleus DNA bending activity|double-stranded DNA binding p.E192E(1) endometrium(3)|large_intestine(2)|lung(2)|skin(1) 8 Acute lymphoblastic leukemia(192;6.56e-05) aggaagaagaggaggaggagg 0.443000 3 24 0 0 1 0 0 ELAVL2 1993 broad.mit.edu 37 9 23731123 23731123 + Splice_Site SNP C C G TCGA-HC-7742-01A-11D-2114-08 TCGA-HC-7742-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx b134ed52-c6fa-45eb-a4af-1d84cbf013d8 6fd7283b-c522-4e98-bfff-740d5d01154b g.chr9:23731123C>G ENST00000397312.2 - 3 504 c.229_splice c.e3-1 p.G77_splice ELAVL2_ENST00000380117.1_Splice_Site_p.G77_splice|ELAVL2_ENST00000544538.1_Splice_Site_p.G77_splice|ELAVL2_ENST00000380110.4_Splice_Site_p.G106_splice|ELAVL2_ENST00000223951.6_Splice_Site_p.G77_splice NM_004432.3 NP_004423.2 Q12926 ELAV2_HUMAN ELAV like neuron-specific RNA binding protein 2 77 RRM 1. regulation of transcription, DNA-dependent mRNA 3'-UTR binding|nucleotide binding|protein binding breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1) 39 GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19) CAAGCTCTGCCCTAATGAAAA 0.393000 17 28 0 0 1 0 0 PACS2 23241 broad.mit.edu 37 14 105849745 105849745 + Missense_Mutation SNP G G A TCGA-HC-7742-01A-11D-2114-08 TCGA-HC-7742-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx b134ed52-c6fa-45eb-a4af-1d84cbf013d8 6fd7283b-c522-4e98-bfff-740d5d01154b g.chr14:105849745G>A ENST00000447393.1 + 16 1850 c.1675G>A c.(1675-1677)Gga>Aga p.G559R PACS2_ENST00000325438.8_Missense_Mutation_p.G555R|PACS2_ENST00000458164.2_Missense_Mutation_p.G559R|PACS2_ENST00000547217.1_Missense_Mutation_p.G525R|PACS2_ENST00000430725.2_Missense_Mutation_p.G480R|PACS2_ENST00000551743.1_Missense_Mutation_p.G69R NM_015197.3 NP_056012.2 Q86VP3 PACS2_HUMAN phosphofurin acidic cluster sorting protein 2 555 apoptosis|interspecies interaction between organisms endoplasmic reticulum lumen|mitochondrion endometrium(2)|kidney(2)|lung(7)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1) 21 all_cancers(154;0.0351)|all_epithelial(191;0.153)|Melanoma(154;0.155) OV - Ovarian serous cystadenocarcinoma(23;0.0145)|Epithelial(46;0.036) Epithelial(152;0.138) CGCCGTGGCGGGAGCGCAGCA 0.642000 3 111 0 0 1 0 0 MECOM 2122 broad.mit.edu 37 3 168819875 168819875 + Missense_Mutation SNP C C T TCGA-HC-7742-01A-11D-2114-08 TCGA-HC-7742-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx b134ed52-c6fa-45eb-a4af-1d84cbf013d8 6fd7283b-c522-4e98-bfff-740d5d01154b g.chr3:168819875C>T ENST00000464456.1 - 9 3353 c.2153G>A c.(2152-2154)cGg>cAg p.R718Q MECOM_ENST00000468789.1_Missense_Mutation_p.R727Q|MECOM_ENST00000494292.1_Missense_Mutation_p.R906Q|MECOM_ENST00000460814.1_Missense_Mutation_p.R718Q|MECOM_ENST00000472280.1_Missense_Mutation_p.R728Q|MECOM_ENST00000392736.3_Missense_Mutation_p.R727Q|MECOM_ENST00000264674.3_Missense_Mutation_p.R792Q|MECOM_ENST00000433243.2_Missense_Mutation_p.R728Q NM_001164000.1 NP_001157472.1 Q13465 MDS1_HUMAN MDS1 and EVI1 complex locus 0 sequence-specific DNA binding transcription factor activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4) 85 CTTTCCCTTCCGCAGAAGGTT 0.502000 15 41 0 0 1 0 0 C6 729 broad.mit.edu 37 5 41159224 41159224 + Nonsense_Mutation SNP G G A TCGA-HC-7742-01A-11D-2114-08 TCGA-HC-7742-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx b134ed52-c6fa-45eb-a4af-1d84cbf013d8 6fd7283b-c522-4e98-bfff-740d5d01154b g.chr5:41159224G>A ENST00000263413.3 - 12 2080 c.1816C>T c.(1816-1818)Cga>Tga p.R606* C6_ENST00000337836.5_Nonsense_Mutation_p.R606* NM_001115131.1 NP_001108603.2 P13671 CO6_HUMAN complement component 6 606 TSP type-1 3. complement activation, classical pathway|cytolysis|innate immune response membrane attack complex protein binding central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2) 96 Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157) TCCTCTTGTCGCTTCTCCCCC 0.468000 49 115 0 0 1 0 0 ZNF296 162979 broad.mit.edu 37 19 45579626 45579626 + Silent SNP G G A TCGA-HC-7742-01A-11D-2114-08 TCGA-HC-7742-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx b134ed52-c6fa-45eb-a4af-1d84cbf013d8 6fd7283b-c522-4e98-bfff-740d5d01154b g.chr19:45579626G>A ENST00000303809.2 - 1 220 c.6C>T c.(4-6)tcC>tcT p.S2S NM_145288.1 NP_660331.1 Q8WUU4 ZN296_HUMAN zinc finger protein 296 2 regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|lung(3)|prostate(1)|urinary_tract(2) 7 CCTTGCGGCGGGACATGAGTC 0.751000 3 41 0 0 1 0 0 CTB-52I2.8 0 broad.mit.edu 37 19 18092575 18092575 + RNA SNP G G A TCGA-HC-7742-01A-11D-2114-08 TCGA-HC-7742-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx b134ed52-c6fa-45eb-a4af-1d84cbf013d8 6fd7283b-c522-4e98-bfff-740d5d01154b g.chr19:18092575G>A ENST00000601725.1 + 0 191 CTGCGAGCGCGTGTTCCTCAT 0.662000 11 44 0 0 1 0 0 TRPM5 29850 broad.mit.edu 37 11 2432663 2432663 + Missense_Mutation SNP G G A TCGA-HC-7742-01A-11D-2114-08 TCGA-HC-7742-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx b134ed52-c6fa-45eb-a4af-1d84cbf013d8 6fd7283b-c522-4e98-bfff-740d5d01154b g.chr11:2432663G>A ENST00000452833.1 - 18 2715 c.2707C>T c.(2707-2709)Cgc>Tgc p.R903C TRPM5_ENST00000155858.6_Missense_Mutation_p.R901C|TRPM5_ENST00000528453.1_Missense_Mutation_p.R901C|TRPM5_ENST00000533060.1_Missense_Mutation_p.R901C Q9NZQ8 TRPM5_HUMAN transient receptor potential cation channel, subfamily M, member 5 901 integral to membrane|plasma membrane receptor activity|voltage-gated ion channel activity breast(1)|central_nervous_system(1)|endometrium(4)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2) 23 Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311) BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191) CACTCCAGGCGGCCGTCATGG 0.617000 19 27 0 0 1 0 0 XCL1 6375 broad.mit.edu 37 1 168549329 168549329 + Missense_Mutation SNP G G C TCGA-HC-7742-01A-11D-2114-08 TCGA-HC-7742-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx b134ed52-c6fa-45eb-a4af-1d84cbf013d8 6fd7283b-c522-4e98-bfff-740d5d01154b g.chr1:168549329G>C ENST00000367818.3 + 2 255 c.90G>C c.(88-90)agG>agC p.R30S NM_002995.2 NP_002986.1 P47992 XCL1_HUMAN chemokine (C motif) ligand 1 30 CD4-positive, alpha-beta T cell proliferation|CD8-positive, alpha-beta T cell proliferation|cell-cell signaling|cellular response to interleukin-4|cellular response to transforming growth factor beta stimulus|immunoglobulin production in mucosal tissue|lymphocyte chemotaxis|negative regulation of interferon-gamma production|negative regulation of interleukin-2 production|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of T cell cytokine production|negative regulation of T-helper 1 cell activation|negative regulation of transcription, DNA-dependent|neutrophil chemotaxis|positive regulation of activated T cell proliferation|positive regulation of B cell chemotaxis|positive regulation of granzyme A production|positive regulation of granzyme B production|positive regulation of interleukin-10 production|positive regulation of natural killer cell chemotaxis|positive regulation of neutrophil chemotaxis|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of T cell chemotaxis|positive regulation of T cell cytokine production|positive regulation of T cell mediated cytotoxicity|positive regulation of thymocyte migration|positive regulation of transforming growth factor-beta production|regulation of inflammatory response|release of sequestered calcium ion into cytosol|response to virus|T-helper 1 cell cytokine production|T-helper 2 cell cytokine production extracellular space chemokine activity|protein homodimerization activity kidney(2)|lung(7)|upper_aerodigestive_tract(1) 10 all_hematologic(923;0.208) CAGATAAGAGGACCTGTGTGA 0.458000 19 71 0 0 1 0 0 TSC22D1 8848 broad.mit.edu 37 13 45148696 45148696 + Silent SNP T T C TCGA-HC-7742-01A-11D-2114-08 TCGA-HC-7742-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx b134ed52-c6fa-45eb-a4af-1d84cbf013d8 6fd7283b-c522-4e98-bfff-740d5d01154b g.chr13:45148696T>C ENST00000458659.2 - 1 2005 c.1515A>G c.(1513-1515)caA>caG p.Q505Q TSC22D1_ENST00000501704.2_Silent_p.Q505Q NM_183422.3 NP_904358.2 Q15714 T22D1_HUMAN TSC22 domain family, member 1 505 Gln-rich. transcription from RNA polymerase II promoter cytoplasm|nucleus protein binding|sequence-specific DNA binding transcription factor activity breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262) GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118) gttgctgttgttgttgttgtt 0.507000 42 80 0 0 1 0 0 RP11-551L14.1 0 broad.mit.edu 37 12 31269315 31269315 + RNA SNP A A G rs17418189 byFrequency TCGA-HC-7742-01A-11D-2114-08 TCGA-HC-7742-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx b134ed52-c6fa-45eb-a4af-1d84cbf013d8 6fd7283b-c522-4e98-bfff-740d5d01154b g.chr12:31269315A>G ENST00000542490.1 - 0 140 central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(25)|prostate(3)|stomach(3)|urinary_tract(1) 41 GAGGTCAAAAACAGTCAAAGA 0.363000 3 102 0 0 1 0 0 IGDCC3 9543 broad.mit.edu 37 15 65667629 65667629 + Missense_Mutation SNP C C T TCGA-HC-7742-01A-11D-2114-08 TCGA-HC-7742-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx b134ed52-c6fa-45eb-a4af-1d84cbf013d8 6fd7283b-c522-4e98-bfff-740d5d01154b g.chr15:65667629C>T ENST00000327987.4 - 2 466 c.215G>A c.(214-216)cGa>cAa p.R72Q NM_004884.3 NP_004875.2 Q8IVU1 IGDC3_HUMAN immunoglobulin superfamily, DCC subclass, member 3 72 Ig-like C2-type 1. breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 30 CCAGGTGATTCGCACTGGAGG 0.592000 13 32 0 0 1 0 0 RYR2 6262 broad.mit.edu 37 1 237982395 237982395 + Silent SNP C C T TCGA-HC-7742-01A-11D-2114-08 TCGA-HC-7742-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx b134ed52-c6fa-45eb-a4af-1d84cbf013d8 6fd7283b-c522-4e98-bfff-740d5d01154b g.chr1:237982395C>T ENST00000366574.2 + 101 14810 c.14493C>T c.(14491-14493)atC>atT p.I4831I RYR2_ENST00000542537.1_Silent_p.I4815I|RYR2_ENST00000360064.6_Silent_p.I4837I NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 4831 cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding p.I4829I(2) NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) GGGATGAAATCGAAGACCCAG 0.413000 24 41 0 0 1 0 0 HERC2P3 0 broad.mit.edu 37 15 20644645 20644645 + RNA SNP G G A TCGA-HC-7742-01A-11D-2114-08 TCGA-HC-7742-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx b134ed52-c6fa-45eb-a4af-1d84cbf013d8 6fd7283b-c522-4e98-bfff-740d5d01154b g.chr15:20644645G>A ENST00000428453.1 - 0 3187 central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 35 ACCTCTGAGTGATGGCACTAC 0.632000 3 15 0 0 1 0 0 IRAK1 3654 broad.mit.edu 37 X 153278063 153278063 + Missense_Mutation SNP C C T TCGA-HC-7742-01A-11D-2114-08 TCGA-HC-7742-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx b134ed52-c6fa-45eb-a4af-1d84cbf013d8 6fd7283b-c522-4e98-bfff-740d5d01154b g.chrX:153278063C>T ENST00000369980.3 - 13 2164 c.1997G>A c.(1996-1998)cGa>cAa p.R666Q IRAK1_ENST00000393687.2_Missense_Mutation_p.R636Q|IRAK1_ENST00000369974.2_Missense_Mutation_p.R587Q|IRAK1_ENST00000429936.2_Missense_Mutation_p.R662Q|IRAK1_ENST00000393682.1_Missense_Mutation_p.R647Q|IRAK1_ENST00000477274.1_Intron NM_001025242.1|NM_001569.3 NP_001020413.1|NP_001560.2 P51617 IRAK1_HUMAN interleukin-1 receptor-associated kinase 1 666 activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|anti-apoptosis|innate immune response|interleukin-1-mediated signaling pathway|JNK cascade|lipopolysaccharide-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of NF-kappaB transcription factor activity|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|protein autophosphorylation|protein oligomerization|regulation of cytokine-mediated signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transmembrane receptor protein serine/threonine kinase signaling pathway cytosol|endosome membrane|interleukin-1 receptor complex ATP binding|NF-kappaB-inducing kinase activity|protein binding|protein heterodimerization activity|protein homodimerization activity|ubiquitin-protein ligase activity breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(15)|ovary(2) 25 all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) CATCTTCTGTCGGGCAGGGTT 0.632000 31 30 0 0 1 0 0 KLK6 5653 broad.mit.edu 37 19 51462556 51462556 + Missense_Mutation SNP G G A TCGA-HC-7742-01A-11D-2114-08 TCGA-HC-7742-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx b134ed52-c6fa-45eb-a4af-1d84cbf013d8 6fd7283b-c522-4e98-bfff-740d5d01154b g.chr19:51462556G>A ENST00000376851.3 - 6 1038 c.599C>T c.(598-600)cCg>cTg p.P200L KLK6_ENST00000391808.1_Missense_Mutation_p.P93L|KLK6_ENST00000310157.2_Missense_Mutation_p.P200L|KLK6_ENST00000594641.1_Missense_Mutation_p.P200L|KLK6_ENST00000456750.2_Missense_Mutation_p.P93L|CTB-147C22.8_ENST00000601506.1_RNA|KLK6_ENST00000376853.4_Missense_Mutation_p.R72C NM_001012964.1 NP_001012982.1 Q92876 KLK6_HUMAN kallikrein-related peptidase 6 200 Peptidase S1. amyloid precursor protein metabolic process|central nervous system development|collagen catabolic process|hormone metabolic process|myelination|positive regulation of G-protein coupled receptor protein signaling pathway|protein autoprocessing|proteolysis|regulation of cell differentiation|tissue regeneration endoplasmic reticulum|extracellular region|microsome|mitochondrion|nucleolus protein binding|serine-type endopeptidase activity p.P200L(1) endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|skin(4) 13 all_neural(266;0.026) OV - Ovarian serous cystadenocarcinoma(262;0.00372)|GBM - Glioblastoma multiforme(134;0.00871) ACATACCAGCGGACCCCCAGA 0.527000 18 37 0 0 1 0 0 APOB 338 broad.mit.edu 37 2 21252827 21252827 + Missense_Mutation SNP C C T TCGA-HC-7742-01A-11D-2114-08 TCGA-HC-7742-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx b134ed52-c6fa-45eb-a4af-1d84cbf013d8 6fd7283b-c522-4e98-bfff-740d5d01154b g.chr2:21252827C>T ENST00000233242.1 - 11 1540 c.1413G>A c.(1411-1413)atG>atA p.M471I APOB_ENST00000399256.4_Missense_Mutation_p.M471I NM_000384.2 NP_000375.2 P04114 APOB_HUMAN apolipoprotein B 471 Vitellogenin. cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6) 305 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) GAATCTGTTCCATCAGGTAAT 0.428000 11 131 0 0 1 0 0 LRRC61 65999 broad.mit.edu 37 7 150034141 150034141 + Missense_Mutation SNP C C T TCGA-HC-7742-01A-11D-2114-08 TCGA-HC-7742-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx b134ed52-c6fa-45eb-a4af-1d84cbf013d8 6fd7283b-c522-4e98-bfff-740d5d01154b g.chr7:150034141C>T ENST00000359623.4 + 3 779 c.191C>T c.(190-192)gCg>gTg p.A64V LRRC61_ENST00000323078.7_Missense_Mutation_p.A64V|LRRC61_ENST00000493307.1_Missense_Mutation_p.A64V NM_001142928.1 NP_001136400.1 Q9BV99 LRC61_HUMAN leucine rich repeat containing 61 64 endometrium(2)|large_intestine(1)|skin(1)|upper_aerodigestive_tract(1) 5 OV - Ovarian serous cystadenocarcinoma(82;0.011) TCAGGCAACGCGCTCACCCAC 0.652000 4 114 0 0 1 0 0 BNIP1 662 broad.mit.edu 37 5 172590800 172590800 + Missense_Mutation SNP G G A rs148150409 byFrequency TCGA-HC-7742-01A-11D-2114-08 TCGA-HC-7742-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx b134ed52-c6fa-45eb-a4af-1d84cbf013d8 6fd7283b-c522-4e98-bfff-740d5d01154b g.chr5:172590800G>A ENST00000231668.9 + 7 796 c.692G>A c.(691-693)cGg>cAg p.R231Q BNIP1_ENST00000352523.6_Missense_Mutation_p.R197Q|BNIP1_ENST00000393770.4_Missense_Mutation_p.R154Q|BNIP1_ENST00000351486.5_Missense_Mutation_p.R188Q NM_013979.2 NP_053582.2 Q12981 SEC20_HUMAN BCL2/adenovirus E1B 19kDa interacting protein 1 188 anti-apoptosis|apoptosis|endoplasmic reticulum membrane fusion|endoplasmic reticulum organization|induction of apoptosis|vesicle-mediated transport integral to endoplasmic reticulum membrane|nuclear envelope|SNARE complex protein binding breast(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|skin(1) 11 Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351) Medulloblastoma(196;0.0208)|all_neural(177;0.0416) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183) CAGCTGGGCCGGAAGCTTATC 0.488000 3 86 0 0 1 0 0 DLGAP3 58512 broad.mit.edu 37 1 35370062 35370062 + Missense_Mutation SNP G G A rs147968723 TCGA-HC-7742-01A-11D-2114-08 TCGA-HC-7742-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx b134ed52-c6fa-45eb-a4af-1d84cbf013d8 6fd7283b-c522-4e98-bfff-740d5d01154b g.chr1:35370062G>A ENST00000373347.1 - 3 1191 c.923C>T c.(922-924)tCg>tTg p.S308L DLGAP3_ENST00000235180.4_Missense_Mutation_p.S308L O95886 DLGP3_HUMAN discs, large (Drosophila) homolog-associated protein 3 308 cell-cell signaling cell junction|postsynaptic density|postsynaptic membrane central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1) 46 Myeloproliferative disorder(586;0.0393) GCGGCCTTCCGACCCGCCCGA 0.667000 25 67 0 0 1 0 0 MRPL54 116541 broad.mit.edu 37 19 3762707 3762707 + Silent SNP C C G TCGA-HC-7742-01A-11D-2114-08 TCGA-HC-7742-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx b134ed52-c6fa-45eb-a4af-1d84cbf013d8 6fd7283b-c522-4e98-bfff-740d5d01154b g.chr19:3762707C>G ENST00000330133.4 + 1 46 c.9C>G c.(7-9)acC>acG p.T3T NM_172251.2 NP_758455.1 Q6P161 RM54_HUMAN mitochondrial ribosomal protein L54 3 mitochondrion|ribosome breast(1)|endometrium(1)|kidney(1)|lung(1)|ovary(1) 5 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00467)|STAD - Stomach adenocarcinoma(1328;0.18) TCATGGCGACCAAACGCCTTT 0.632000 37 105 0 0 1 0 0 ALDH1L1 10840 broad.mit.edu 37 3 125824675 125824675 + Silent SNP G G A TCGA-HC-7742-01A-11D-2114-08 TCGA-HC-7742-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx b134ed52-c6fa-45eb-a4af-1d84cbf013d8 6fd7283b-c522-4e98-bfff-740d5d01154b g.chr3:125824675G>A ENST00000393434.2 - 22 2896 c.2547C>T c.(2545-2547)gtC>gtT p.V849V ALDH1L1_ENST00000472186.1_Silent_p.V849V|ALDH1L1_ENST00000452905.2_Silent_p.V748V|ALDH1L1_ENST00000273450.3_Silent_p.V859V|ALDH1L1_ENST00000393431.2_3'UTR|ALDH1L1-AS1_ENST00000512384.1_RNA NM_012190.3 NP_036322.2 O75891 AL1L1_HUMAN aldehyde dehydrogenase 1 family, member L1 849 Aldehyde dehydrogenase. 10-formyltetrahydrofolate catabolic process|biosynthetic process acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 52 GBM - Glioblastoma multiforme(114;0.0462) Tetrahydrofolic acid(DB00116) GCTTGTCACTGACATACAGGG 0.552000 5 177 0 0 1 0 0 C9orf172 389813 broad.mit.edu 37 9 139740894 139740894 + Missense_Mutation SNP G G T TCGA-HC-7742-01A-11D-2114-08 TCGA-HC-7742-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx b134ed52-c6fa-45eb-a4af-1d84cbf013d8 6fd7283b-c522-4e98-bfff-740d5d01154b g.chr9:139740894G>T ENST00000436881.1 + 1 2028 c.2028G>T c.(2026-2028)atG>atT p.M676I NM_001080482.2 NP_001073951.2 C9J069 CI172_HUMAN chromosome 9 open reading frame 172 676 endometrium(2)|large_intestine(1)|lung(6) 9 CCGAGACCATGTTCAACGCCT 0.692000 3 48 1 1 1 1 0 WDR83 84292 broad.mit.edu 37 19 12780860 12780860 + Missense_Mutation SNP C C A TCGA-HC-7742-01A-11D-2114-08 TCGA-HC-7742-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx b134ed52-c6fa-45eb-a4af-1d84cbf013d8 6fd7283b-c522-4e98-bfff-740d5d01154b g.chr19:12780860C>A ENST00000418543.3 + 4 522 c.173C>A c.(172-174)aCg>aAg p.T58K WDR83_ENST00000242796.4_Missense_Mutation_p.T58K|WDR83OS_ENST00000596731.1_5'UTR NM_001099737.2 NP_001093207.1 Q9BRX9 WDR83_HUMAN WD repeat domain 83 58 nuclear mRNA splicing, via spliceosome catalytic step 2 spliceosome|cytoplasm breast(2)|large_intestine(1)|lung(1) 4 CTTCGGGGGACGCTGCTGCGG 0.677000 3 75 1 1 1 1 0 SEC31B 25956 broad.mit.edu 37 10 102248628 102248628 + Missense_Mutation SNP G G T TCGA-HC-7742-01A-11D-2114-08 TCGA-HC-7742-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx b134ed52-c6fa-45eb-a4af-1d84cbf013d8 6fd7283b-c522-4e98-bfff-740d5d01154b g.chr10:102248628G>T ENST00000370345.3 - 24 3372 c.3275C>A c.(3274-3276)tCt>tAt p.S1092Y NM_015490.3 NP_056305.1 Q9NQW1 SC31B_HUMAN SEC31 homolog B (S. cerevisiae) 1092 protein transport|vesicle-mediated transport endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(3)|lung(17)|ovary(1)|urinary_tract(1) 36 Colorectal(252;0.117) Epithelial(162;2.36e-10)|all cancers(201;2.09e-08) GTCAGTTGCAGACAGGGAGCA 0.577000 35 62 6.04917e-29 6.82141e-29 1 1 0 TBC1D5 9779 broad.mit.edu 37 3 17279892 17279892 + Missense_Mutation SNP G G A TCGA-HC-7742-01A-11D-2114-08 TCGA-HC-7742-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx b134ed52-c6fa-45eb-a4af-1d84cbf013d8 6fd7283b-c522-4e98-bfff-740d5d01154b g.chr3:17279892G>A ENST00000253692.7 - 17 3015 c.1351C>T c.(1351-1353)Ccc>Tcc p.P451S TBC1D5_ENST00000429924.2_Missense_Mutation_p.P403S|TBC1D5_ENST00000414318.2_5'UTR|TBC1D5_ENST00000446818.2_Missense_Mutation_p.P451S|TBC1D5_ENST00000429383.4_Missense_Mutation_p.P451S NM_014744.2 NP_055559.1 Q92609 TBCD5_HUMAN TBC1 domain family, member 5 451 intracellular protein binding|Rab GTPase activator activity NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 36 ATATTCAGGGGAGCACCTTTG 0.388000 12 46 0 0 1 0 0 TMEM132B 114795 broad.mit.edu 37 12 126138738 126138738 + Missense_Mutation SNP G G A TCGA-HC-7742-01A-11D-2114-08 TCGA-HC-7742-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx b134ed52-c6fa-45eb-a4af-1d84cbf013d8 6fd7283b-c522-4e98-bfff-740d5d01154b g.chr12:126138738G>A ENST00000299308.3 + 9 2727 c.2719G>A c.(2719-2721)Gtc>Atc p.V907I TMEM132B_ENST00000535886.1_Missense_Mutation_p.V419I NM_052907.2 NP_443139.2 Q14DG7 T132B_HUMAN transmembrane protein 132B 907 integral to membrane NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1) 107 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362) CTTGCTCTGCGTCTTCTGTCT 0.522000 26 57 0 0 1 0 0 MOGAT3 346606 broad.mit.edu 37 7 100839218 100839218 + Missense_Mutation SNP C C T TCGA-HC-7742-01A-11D-2114-08 TCGA-HC-7742-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx b134ed52-c6fa-45eb-a4af-1d84cbf013d8 6fd7283b-c522-4e98-bfff-740d5d01154b g.chr7:100839218C>T ENST00000379423.3 - 6 892 c.832G>A c.(832-834)Gcg>Acg p.A278T MOGAT3_ENST00000440203.2_3'UTR|MOGAT3_ENST00000223114.4_3'UTR Q86VF5 MOGT3_HUMAN monoacylglycerol O-acyltransferase 3 0 glycerol metabolic process|lipid biosynthetic process endoplasmic reticulum membrane|integral to membrane 2-acylglycerol O-acyltransferase activity|diacylglycerol O-acyltransferase activity breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(3) 22 Lung NSC(181;0.168)|all_lung(186;0.215) CGAAAGGCCGCGGCCAGGCCT 0.627000 32 83 0 0 1 0 0 ROBO1 6091 broad.mit.edu 37 3 78708861 78708861 + Missense_Mutation SNP T T G TCGA-HC-7742-01A-11D-2114-08 TCGA-HC-7742-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx b134ed52-c6fa-45eb-a4af-1d84cbf013d8 6fd7283b-c522-4e98-bfff-740d5d01154b g.chr3:78708861T>G ENST00000436010.2 - 15 3297 c.2300A>C c.(2299-2301)cAa>cCa p.Q767P ROBO1_ENST00000467549.1_Missense_Mutation_p.Q770P|ROBO1_ENST00000495273.1_Missense_Mutation_p.Q770P|ROBO1_ENST00000464233.1_Missense_Mutation_p.Q806P Q9Y6N7 ROBO1_HUMAN roundabout, axon guidance receptor, homolog 1 (Drosophila) 806 activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway cell surface|cytoplasm|integral to plasma membrane axon guidance receptor activity|identical protein binding|LRR domain binding breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1) 44 Lung SC(41;0.0257)|Lung NSC(201;0.0439) LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274) CATTCCATTTTGAGTGTCTTC 0.433000 6 7 0 0 1 0 0 ACTL7B 10880 broad.mit.edu 37 9 111617150 111617150 + Missense_Mutation SNP C C T TCGA-HC-7742-01A-11D-2114-08 TCGA-HC-7742-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx b134ed52-c6fa-45eb-a4af-1d84cbf013d8 6fd7283b-c522-4e98-bfff-740d5d01154b g.chr9:111617150C>T ENST00000374667.3 - 1 2089 c.1061G>A c.(1060-1062)cGc>cAc p.R354H NM_006686.3 NP_006677.1 Q9Y614 ACL7B_HUMAN actin-like 7B 354 actin cytoskeleton|cytoplasm structural constituent of cytoskeleton p.R354H(2) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 20 CCTCTGGAAGCGCTCGGGGAA 0.677000 16 40 0 0 1 0 0 UPP1 7378 broad.mit.edu 37 7 48141449 48141449 + Missense_Mutation SNP G G A TCGA-HC-7742-01A-11D-2114-08 TCGA-HC-7742-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx b134ed52-c6fa-45eb-a4af-1d84cbf013d8 6fd7283b-c522-4e98-bfff-740d5d01154b g.chr7:48141449G>A ENST00000331803.4 + 6 814 c.191G>A c.(190-192)cGg>cAg p.R64Q UPP1_ENST00000395564.4_Missense_Mutation_p.R64Q|UPP1_ENST00000482015.1_3'UTR|UPP1_ENST00000429491.2_Intron|UPP1_ENST00000341253.4_Missense_Mutation_p.R64Q Q16831 UPP1_HUMAN uridine phosphorylase 1 64 nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process|pyrimidine nucleoside salvage cytosol uridine phosphorylase activity breast(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(1)|upper_aerodigestive_tract(1) 18 AGCCCCTCCCGGATGAAAGCC 0.567000 25 73 0 0 1 0 0 LAMC2 3918 broad.mit.edu 37 1 183207488 183207488 + Missense_Mutation SNP C C T TCGA-HC-7742-01A-11D-2114-08 TCGA-HC-7742-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx b134ed52-c6fa-45eb-a4af-1d84cbf013d8 6fd7283b-c522-4e98-bfff-740d5d01154b g.chr1:183207488C>T ENST00000264144.4 + 19 2866 c.2801C>T c.(2800-2802)gCa>gTa p.A934V LAMC2_ENST00000493293.1_Missense_Mutation_p.A934V NM_005562.2 NP_005553.2 Q13753 LAMC2_HUMAN laminin, gamma 2 934 Domain II and I. cell adhesion|epidermis development|hemidesmosome assembly heparin binding breast(2)|endometrium(6)|kidney(8)|large_intestine(11)|lung(18)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 55 AAAAGCAGAGCACAAGAAGCA 0.418000 37 109 0 0 1 0 0 MYPN 84665 broad.mit.edu 37 10 69881296 69881296 + Missense_Mutation SNP G G T TCGA-HC-7742-01A-11D-2114-08 TCGA-HC-7742-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx b134ed52-c6fa-45eb-a4af-1d84cbf013d8 6fd7283b-c522-4e98-bfff-740d5d01154b g.chr10:69881296G>T ENST00000358913.5 + 2 589 c.101G>T c.(100-102)cGa>cTa p.R34L MYPN_ENST00000540630.1_Missense_Mutation_p.R34L|MYPN_ENST00000354393.2_Intron|MYPN_ENST00000373675.3_Missense_Mutation_p.R34L NM_001256267.1|NM_032578.3 NP_001243196.1|NP_115967.2 Q86TC9 MYPN_HUMAN myopalladin 34 Interaction with CARP. nucleus|sarcomere actin binding breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5) 94 GAGAGGAGTCGAGCGGAGCCC 0.522000 3 77 0.115264 0.119784 1 1 0 TSPAN4 0 broad.mit.edu 37 11 864455 864455 + Missense_Mutation SNP C C G TCGA-HC-7742-01A-11D-2114-08 TCGA-HC-7742-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx b134ed52-c6fa-45eb-a4af-1d84cbf013d8 6fd7283b-c522-4e98-bfff-740d5d01154b g.chr11:864455C>G ENST00000397404.1 + 5 533 c.274C>G c.(274-276)Ctg>Gtg p.L92V TSPAN4_ENST00000346501.4_Missense_Mutation_p.L92V|TSPAN4_ENST00000397408.1_Missense_Mutation_p.L92V|TSPAN4_ENST00000397411.2_Missense_Mutation_p.L92V|TSPAN4_ENST00000525201.1_Missense_Mutation_p.L28V|TSPAN4_ENST00000397397.2_Missense_Mutation_p.L92V|TSPAN4_ENST00000397396.1_Missense_Mutation_p.L28V|TSPAN4_ENST00000409531.1_Missense_Mutation_p.L111V|TSPAN4_ENST00000409543.2_Missense_Mutation_p.L92V|TSPAN4_ENST00000397406.1_Missense_Mutation_p.L92V NM_001025237.1 NP_001020408.1 O14817 TSN4_HUMAN tetraspanin 4 92 protein complex assembly integral to plasma membrane breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1) 3 all_cancers(49;2.64e-08)|all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24) all cancers(45;4.32e-25)|Epithelial(43;3.29e-24)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) GCTGCTGCTGCTGGTGTTCCT 0.672000 4 180 0 0 1 0 0 C1orf51 148523 broad.mit.edu 37 1 150259209 150259209 + Missense_Mutation SNP G G A TCGA-HC-7742-01A-11D-2114-08 TCGA-HC-7742-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx b134ed52-c6fa-45eb-a4af-1d84cbf013d8 6fd7283b-c522-4e98-bfff-740d5d01154b g.chr1:150259209G>A ENST00000290363.5 + 5 1450 c.1001G>A c.(1000-1002)cGt>cAt p.R334H C1orf51_ENST00000369095.1_Missense_Mutation_p.R334H|C1orf51_ENST00000369094.1_Missense_Mutation_p.R246H NM_144697.2 NP_653298.1 Q8N365 CA051_HUMAN chromosome 1 open reading frame 51 334 endometrium(3)|large_intestine(2)|lung(3)|urinary_tract(2) 10 Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.171) GAGGGTCCTCGTTGCTACAGT 0.552000 47 122 0 0 1 0 0 TMEM102 284114 broad.mit.edu 37 17 7340279 7340279 + Missense_Mutation SNP G G T TCGA-HC-7742-01A-11D-2114-08 TCGA-HC-7742-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx b134ed52-c6fa-45eb-a4af-1d84cbf013d8 6fd7283b-c522-4e98-bfff-740d5d01154b g.chr17:7340279G>T ENST00000323206.1 + 3 1254 c.981G>T c.(979-981)tgG>tgT p.W327C RP11-104H15.9_ENST00000570444.1_RNA|TMEM102_ENST00000396568.1_Missense_Mutation_p.W327C|RP11-104H15.7_ENST00000575310.1_RNA NM_178518.2 NP_848613.1 Q8N9M5 TM102_HUMAN transmembrane protein 102 327 regulation of apoptosis|response to cytokine stimulus|signal transduction cell surface|integral to membrane|intracellular protein binding kidney(1)|lung(3)|skin(1) 5 Prostate(122;0.173) TGGCGGGCTGGCCCGAGGGGG 0.726000 3 18 0.000602214 0.000638347 1 1 0 ATP8B2 57198 broad.mit.edu 37 1 154303605 154303605 + Missense_Mutation SNP G G T TCGA-HC-7742-01A-11D-2114-08 TCGA-HC-7742-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx b134ed52-c6fa-45eb-a4af-1d84cbf013d8 6fd7283b-c522-4e98-bfff-740d5d01154b g.chr1:154303605G>T ENST00000368489.3 + 5 385 c.385G>T c.(385-387)Gat>Tat p.D129Y ATP8B2_ENST00000341822.2_Missense_Mutation_p.D115Y|ATP8B2_ENST00000426445.1_3'UTR|ATP8B2_ENST00000368487.3_Missense_Mutation_p.D96Y NM_020452.3 NP_065185.1 P98198 AT8B2_HUMAN ATPase, aminophospholipid transporter, class I, type 8B, member 2 115 ATP biosynthetic process plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity IL6R/ATP8B2(2) breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 51 all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877) LUSC - Lung squamous cell carcinoma(543;0.185) AGCTGTTAAAGATGCCACTGA 0.488000 21 40 3.5997e-14 3.97467e-14 1 1 0 GAR1 54433 broad.mit.edu 37 4 110737454 110737454 + Missense_Mutation SNP G G A TCGA-HC-7742-01A-11D-2114-08 TCGA-HC-7742-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx b134ed52-c6fa-45eb-a4af-1d84cbf013d8 6fd7283b-c522-4e98-bfff-740d5d01154b g.chr4:110737454G>A ENST00000226796.6 + 2 398 c.134G>A c.(133-135)gGc>gAc p.G45D GAR1_ENST00000394631.3_Missense_Mutation_p.G45D NM_018983.3 NP_061856.1 Q9NY12 GAR1_HUMAN GAR1 ribonucleoprotein 45 RGG-box 1. rRNA processing|snRNA pseudouridine synthesis box H/ACA snoRNP complex|Cajal body cation channel activity|pseudouridine synthase activity|snoRNA binding kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1) 9 agaggcggcggcaggggaggA 0.607000 4 57 0 0 1 0 0 NPIPB5 100132247 broad.mit.edu 37 16 22545865 22545865 + Missense_Mutation SNP G G C rs147500263 by1000genomes TCGA-HC-7742-01A-11D-2114-08 TCGA-HC-7742-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx b134ed52-c6fa-45eb-a4af-1d84cbf013d8 6fd7283b-c522-4e98-bfff-740d5d01154b g.chr16:22545865G>C ENST00000424340.1 + 7 1840 c.1561G>C c.(1561-1563)Gcc>Ccc p.A521P NPIPB5_ENST00000415654.1_3'UTR|NPIPB5_ENST00000517539.1_Missense_Mutation_p.A521P NM_001135865.1 NP_001129337.1 nuclear pore complex interacting protein family, member B5 TCAGCTCACTGCCCTTCCACC 0.567000 6 580 0 0 1 0 0 COASY 80347 broad.mit.edu 37 17 40717505 40717505 + Silent SNP G G T TCGA-HC-7742-01A-11D-2114-08 TCGA-HC-7742-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx b134ed52-c6fa-45eb-a4af-1d84cbf013d8 6fd7283b-c522-4e98-bfff-740d5d01154b g.chr17:40717505G>T ENST00000393818.2 + 7 1860 c.1404G>T c.(1402-1404)gtG>gtT p.V468V COASY_ENST00000590958.1_Silent_p.V497V|COASY_ENST00000421097.2_Silent_p.V468V|COASY_ENST00000420359.1_Silent_p.V468V|COASY_ENST00000449624.1_Silent_p.V173V NM_025233.6 NP_079509.5 Q13057 COASY_HUMAN CoA synthase 468 DPCK. coenzyme A biosynthetic process|pantothenate metabolic process mitochondrial outer membrane ATP binding|dephospho-CoA kinase activity|pantetheine-phosphate adenylyltransferase activity NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(1) 21 all_cancers(22;1.06e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344) BRCA - Breast invasive adenocarcinoma(366;0.13) GTGTGTGTGTGATTGATGCCG 0.612000 17 49 1.33834e-09 1.44759e-09 1 1 0 ABCA13 154664 broad.mit.edu 37 7 48352729 48352729 + Silent SNP C C T TCGA-HC-7742-01A-11D-2114-08 TCGA-HC-7742-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx b134ed52-c6fa-45eb-a4af-1d84cbf013d8 6fd7283b-c522-4e98-bfff-740d5d01154b g.chr7:48352729C>T ENST00000435803.1 + 25 9606 c.9582C>T c.(9580-9582)agC>agT p.S3194S NM_152701.3 NP_689914.2 Q86UQ4 ABCAD_HUMAN ATP-binding cassette, sub-family A (ABC1), member 13 3194 transport integral to membrane ATP binding|ATPase activity p.S3139S(1)|p.S3194S(1) breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 270 CCAGCCTCAGCGCCTTGCTTG 0.433000 10 18 0 0 1 0 0 SMG7 9887 broad.mit.edu 37 1 183515266 183515267 + Frame_Shift_Ins INS - - A TCGA-HC-7742-01A-11D-2114-08 TCGA-HC-7742-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx b134ed52-c6fa-45eb-a4af-1d84cbf013d8 c8565d71-27c7-400a-bd9b-97fd79a7e8e7 g.chr1:183515266_183515267insA ENST00000367537.3 + 18 2680_2681 c.2485_2486insA c.(2485-2487)aaafs p.K829fs SMG7_ENST00000515829.2_Frame_Shift_Ins_p.K800fs|SMG7_ENST00000347615.2_Frame_Shift_Ins_p.K846fs|SMG7_ENST00000456731.2_Frame_Shift_Ins_p.K758fs|SMG7_ENST00000507469.1_Frame_Shift_Ins_p.K800fs|SMG7_ENST00000508461.1_Frame_Shift_Ins_p.K804fs Q92540 SMG7_HUMAN SMG7 nonsense mediated mRNA decay factor 846 Gln/Pro-rich. mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation cytoplasm|intermediate filament cytoskeleton|nucleus protein phosphatase 2A binding p.?(1) breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 46 GCAGCCTCTAGAAAAAAAAATG 0.450 7 60 --- --- --- --- ITPKB 3707 broad.mit.edu 37 1 226924876 226924884 + In_Frame_Del DEL CTGCCGCTG CTGCCGCTG - rs11278152 TCGA-HC-7742-01A-11D-2114-08 TCGA-HC-7742-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx b134ed52-c6fa-45eb-a4af-1d84cbf013d8 c8565d71-27c7-400a-bd9b-97fd79a7e8e7 g.chr1:226924876_226924884delCTGCCGCTG ENST00000429204.1 - 2 603_611 c.276_284delCAGCGGCAG c.(274-285)agt>ag p.SSGS92del ITPKB_ENST00000272117.3_In_Frame_Del_p.SSGS92del|ITPKB_ENST00000366784.1_In_Frame_Del_p.SSGS92del NM_002221.3 NP_002212.3 P27987 IP3KB_HUMAN inositol-trisphosphate 3-kinase B 92 ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(1) 30 Prostate(94;0.0773) GCTCACgctactgccgctgctgccgctgc 0.746 3 6 --- --- --- --- ERC2 26059 broad.mit.edu 37 3 55733470 55733472 + In_Frame_Del DEL TGG TGG - TCGA-HC-7742-01A-11D-2114-08 TCGA-HC-7742-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx b134ed52-c6fa-45eb-a4af-1d84cbf013d8 c8565d71-27c7-400a-bd9b-97fd79a7e8e7 g.chr3:55733470_55733472delTGG ENST00000288221.6 - 16 3036_3038 c.2781_2783delCCA c.(2779-2784)cat>ca p.HH931del NM_015576.1 NP_056391.1 O15083 ERC2_HUMAN ELKS/RAB6-interacting/CAST family member 2 931 Poly-His. cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome protein binding breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1) 31 KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219) gtggtggtgatggtggtggtggt 0.502 18 441 --- --- --- --- TNRC18 84629 broad.mit.edu 37 7 5352791 5352793 + In_Frame_Del DEL GCT GCT - TCGA-HC-7742-01A-11D-2114-08 TCGA-HC-7742-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx b134ed52-c6fa-45eb-a4af-1d84cbf013d8 c8565d71-27c7-400a-bd9b-97fd79a7e8e7 g.chr7:5352791_5352793delGCT ENST00000399537.4 - 27 8077_8079 c.7729_7731delAGC c.(7729-7731)del p.S2577del TNRC18_ENST00000430969.1_In_Frame_Del_p.S2577del O15417 TNC18_HUMAN trinucleotide repeat containing 18 2577 Ser-rich. DNA binding central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8) 11 Ovarian(82;0.142) UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15) TCTCCGAgccgctgctgctgctg 0.690 2 4 --- --- --- --- BRAF 673 broad.mit.edu 37 7 140453122 140453133 + In_Frame_Del DEL TCCATCGAGATT TCCATCGAGATT - rs121913365 TCGA-HC-7742-01A-11D-2114-08 TCGA-HC-7742-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx b134ed52-c6fa-45eb-a4af-1d84cbf013d8 c8565d71-27c7-400a-bd9b-97fd79a7e8e7 g.chr7:140453122_140453133delTCCATCGAGATT ENST00000288602.6 - 15 1862_1873 c.1802_1813delAATCTCGATGGA c.(1801-1815)agt>a p.KSRWS601del NM_004333.4 NP_004324.2 P15056 BRAF_HUMAN v-raf murine sarcoma viral oncogene homolog B 601 Protein kinase. K -> E (in colorectal cancer).|K -> Q (in CFC syndrome). 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.K601N(10)|p.R603*(4)|p.S605G(3)|p.T599_R603>I(2)|p.W604del(2)|p.S605F(2)|p.W604G(2)|p.W604R(1)|p.K601I(1)|p.K601K(1)|p.K601del(1)|p.S602S(1)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.W604*(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) TGGGACCCACTCCATCGAGATTTCACTGTAGC 0.382 K601N(U266B1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE) 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 8 93 --- --- --- --- TP53 7157 broad.mit.edu 37 17 7578222 7578223 + Frame_Shift_Del DEL TC TC - TCGA-HC-7742-01A-11D-2114-08 TCGA-HC-7742-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx b134ed52-c6fa-45eb-a4af-1d84cbf013d8 c8565d71-27c7-400a-bd9b-97fd79a7e8e7 g.chr17:7578222_7578223delTC ENST00000420246.2 - 6 758_759 c.626_627delGA c.(625-627)afs p.R209fs TP53_ENST00000574684.1_Intron|TP53_ENST00000269305.4_Frame_Shift_Del_p.R209fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.R209fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.R209fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.R209fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.R209fs NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 209 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. R -> I (in sporadic cancers; somatic mutation).|R -> K (in sporadic cancers; somatic mutation).|R -> S (in a sporadic cancer; somatic mutation).|R -> T (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.R209fs*6(38)|p.0?(8)|p.R209K(7)|p.?(5)|p.R209T(3)|p.R77fs*6(2)|p.R209fs*35(2)|p.D207fs*6(2)|p.R209fs*38(2)|p.R116fs*6(2)|p.R77K(1)|p.R116K(1)|p.E204_N210delEYLDDRN(1)|p.R209fs*36(1)|p.D207_R213delDDRNTFR(1)|p.D208_V216delDRNTFRHSV(1)|p.D208fs*1(1)|p.N210fs*7(1)|p.R209S(1)|p.R209I(1)|p.R209_R213delRNTFR(1)|p.D207_V216del10(1)|p.R209fs*5(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) GAAAAGTGTTTCTGTCATCCAA 0.535 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 40 42 --- --- --- --- RP11-1055B8.7 0 broad.mit.edu 37 17 79428907 79428909 + In_Frame_Del DEL CAG CAG - TCGA-HC-7742-01A-11D-2114-08 TCGA-HC-7742-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx b134ed52-c6fa-45eb-a4af-1d84cbf013d8 c8565d71-27c7-400a-bd9b-97fd79a7e8e7 g.chr17:79428907_79428909delCAG ENST00000307745.7 + 30 7218_7220 c.7218_7220delCAG c.(7216-7221)ccc>cc p.PS2406del RP11-1055B8.8_ENST00000572590.1_RNA GCTCAGGCCCCAGCAGCAGCAGC 0.690 2 4 --- --- --- --- EXTL1 2134 broad.mit.edu 37 1 26349533 26349535 + In_Frame_Del DEL CCT CCT - TCGA-HC-7742-01A-11D-2114-08 TCGA-HC-7742-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx b134ed52-c6fa-45eb-a4af-1d84cbf013d8 6fd7283b-c522-4e98-bfff-740d5d01154b g.chr1:26349533_26349535delCCT ENST00000374280.3 + 1 1263_1265 c.396_398delCCT c.(394-399)tgc>tg p.CL132del NM_004455.2 NP_004446.2 Q92935 EXTL1_HUMAN exostosin-like glycosyltransferase 1 132 skeletal system development integral to membrane|intrinsic to endoplasmic reticulum membrane glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|protein binding central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|stomach(1)|urinary_tract(1) 23 Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00594)|READ - Rectum adenocarcinoma(331;0.0649) CTGGGGCCTGCCTCCTCCTCCTC 0.606 7 75 --- --- --- --- RP5-884C9.2 0 broad.mit.edu 37 1 38562824 38562825 + RNA DEL AG AG - TCGA-HC-7742-01A-11D-2114-08 TCGA-HC-7742-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx b134ed52-c6fa-45eb-a4af-1d84cbf013d8 6fd7283b-c522-4e98-bfff-740d5d01154b g.chr1:38562824_38562825delAG ENST00000432922.1 + 0 301 ccacagaaacagagagagagag 0.500 2 4 --- --- --- --- CRIPAK 285464 broad.mit.edu 37 4 1388467 1388468 + Frame_Shift_Del DEL CA CA - TCGA-HC-7742-01A-11D-2114-08 TCGA-HC-7742-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx b134ed52-c6fa-45eb-a4af-1d84cbf013d8 6fd7283b-c522-4e98-bfff-740d5d01154b g.chr4:1388467_1388468delCA ENST00000324803.4 + 1 3128_3129 c.168_169delCA c.(166-171)ctcafs p.LT56fs NM_175918.3 NP_787114.2 Q8N1N5 CRPAK_HUMAN cysteine-rich PAK1 inhibitor 56 ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus endoplasmic reticulum|nucleus|plasma membrane protein binding NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1) 35 OV - Ovarian serous cystadenocarcinoma(23;0.0106) CCCGCCTGCTCACACGTGCCCA 0.644 8 1017 --- --- --- --- RRN3P1 0 broad.mit.edu 37 16 21817398 21817399 + RNA INS - - A rs144931984 by1000genomes TCGA-HC-7742-01A-11D-2114-08 TCGA-HC-7742-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx b134ed52-c6fa-45eb-a4af-1d84cbf013d8 6fd7283b-c522-4e98-bfff-740d5d01154b g.chr16:21817398_21817399insA ENST00000546471.1 - 0 1607 TAAATGaaaataaaaaaataaa 0.302 2 4 --- --- --- --- RP11-1055B8.7 0 broad.mit.edu 37 17 79428907 79428909 + In_Frame_Del DEL CAG CAG - TCGA-HC-7742-01A-11D-2114-08 TCGA-HC-7742-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx b134ed52-c6fa-45eb-a4af-1d84cbf013d8 6fd7283b-c522-4e98-bfff-740d5d01154b g.chr17:79428907_79428909delCAG ENST00000307745.7 + 30 7218_7220 c.7218_7220delCAG c.(7216-7221)ccc>cc p.PS2406del RP11-1055B8.8_ENST00000572590.1_RNA GCTCAGGCCCCAGCAGCAGCAGC 0.690 2 4 --- --- --- --- RP11-305P22.9 0 broad.mit.edu 37 20 61659432 61659433 + RNA INS - - G rs140131983 by1000genomes TCGA-HC-7742-01A-11D-2114-08 TCGA-HC-7742-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx b134ed52-c6fa-45eb-a4af-1d84cbf013d8 6fd7283b-c522-4e98-bfff-740d5d01154b g.chr20:61659432_61659433insG ENST00000607802.1 + 0 91 NR_033370.1 accggtggggaggggccggtgg 0.723 3 5 --- --- --- ---