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 USP9X 8239 broad.mit.edu 37 X 41077680 41077680 + Missense_Mutation SNP G G T TCGA-69-7763-01A-11D-2167-08 TCGA-69-7763-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8dbe8f2d-38c0-4d35-bb53-d43e759784ee da990b8c-9ccd-4a64-811b-5a6a6177ac99 g.chrX:41077680G>T ENST00000324545.7 + 37 6898 c.6265G>T c.(6265-6267)Gct>Tct p.A2089S USP9X_ENST00000378308.2_Missense_Mutation_p.A2089S NM_001039590.2|NM_001039591.2 NP_001034679.2|NP_001034680.2 Q93008 USP9X_HUMAN ubiquitin specific peptidase 9, X-linked 2089 BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process cytoplasm co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 87 TTTTTGGTTTGCTCATAACGT 0.373000 11 32 6.42651e-13 8.03314e-13 1 1 0 CENPJ 55835 broad.mit.edu 37 13 25487104 25487104 + Missense_Mutation SNP C C G TCGA-69-7763-01A-11D-2167-08 TCGA-69-7763-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8dbe8f2d-38c0-4d35-bb53-d43e759784ee da990b8c-9ccd-4a64-811b-5a6a6177ac99 g.chr13:25487104C>G ENST00000381884.4 - 2 245 c.60G>C c.(58-60)tgG>tgC p.W20C CENPJ_ENST00000545981.1_Missense_Mutation_p.W20C NM_018451.4 NP_060921.3 Q9HC77 CENPJ_HUMAN centromere protein J 20 cell division|centriole replication|G2/M transition of mitotic cell cycle|microtubule nucleation|microtubule polymerization centriole|cytosol|gamma-tubulin small complex|microtubule protein domain specific binding|tubulin binding endometrium(5)|kidney(4)|large_intestine(14)|lung(13)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 Lung SC(185;0.0225)|Breast(139;0.0602) all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139) GATTGGTCATCCACTGGGTTA 0.438000 6 45 0 0 1 0 0 ATP2B1 490 broad.mit.edu 37 12 89992384 89992384 + Missense_Mutation SNP G G A TCGA-69-7763-01A-11D-2167-08 TCGA-69-7763-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8dbe8f2d-38c0-4d35-bb53-d43e759784ee da990b8c-9ccd-4a64-811b-5a6a6177ac99 g.chr12:89992384G>A ENST00000359142.3 - 20 3712 c.3488C>T c.(3487-3489)gCt>gTt p.A1163V ATP2B1_ENST00000261173.2_Intron|ATP2B1_ENST00000393164.2_Intron|ATP2B1_ENST00000348959.3_Intron|ATP2B1_ENST00000428670.3_Intron NM_001001323.1 NP_001001323.1 P20020 AT2B1_HUMAN ATPase, Ca++ transporting, plasma membrane 1 0 ATP biosynthetic process|platelet activation integral to plasma membrane ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1) 45 AGTAGTAGAAGCAGTAGAAGA 0.433000 19 91 0 0 1 0 0 ECD 11319 broad.mit.edu 37 10 74899220 74899220 + Missense_Mutation SNP A A G TCGA-69-7763-01A-11D-2167-08 TCGA-69-7763-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8dbe8f2d-38c0-4d35-bb53-d43e759784ee da990b8c-9ccd-4a64-811b-5a6a6177ac99 g.chr10:74899220A>G ENST00000372979.4 - 11 1474 c.1268T>C c.(1267-1269)cTg>cCg p.L423P ECD_ENST00000454759.1_Missense_Mutation_p.L380P|ECD_ENST00000430082.1_Missense_Mutation_p.L456P NM_007265.2 NP_009196.1 O95905 SGT1_HUMAN ecdysoneless homolog (Drosophila) 423 regulation of glycolysis|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter cytoplasm|nucleus transcription coactivator activity breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 Prostate(51;0.0119) CAGCTGGTCCAGCTGATCTGG 0.453000 15 56 0 0 1 0 0 ZNF91 7644 broad.mit.edu 37 19 23545333 23545333 + Nonsense_Mutation SNP G G A TCGA-69-7763-01A-11D-2167-08 TCGA-69-7763-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8dbe8f2d-38c0-4d35-bb53-d43e759784ee da990b8c-9ccd-4a64-811b-5a6a6177ac99 g.chr19:23545333G>A ENST00000300619.7 - 4 653 c.448C>T c.(448-450)Cag>Tag p.Q150* ZNF91_ENST00000397082.2_Nonsense_Mutation_p.Q118*|ZNF91_ENST00000599743.1_Intron NM_003430.2 NP_003421.2 Q05481 ZNF91_HUMAN zinc finger protein 91 150 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611) ACTTTGCTCTGGGCAGTTGTG 0.323000 13 37 0 0 1 0 0 NBEAP1 606 broad.mit.edu 37 15 20876539 20876539 + RNA SNP T T A rs146180697 by1000genomes TCGA-69-7763-01A-11D-2167-08 TCGA-69-7763-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8dbe8f2d-38c0-4d35-bb53-d43e759784ee da990b8c-9ccd-4a64-811b-5a6a6177ac99 g.chr15:20876539T>A ENST00000556948.1 - 0 61 ACCATCAAGGTATTTTGCAAA 0.348000 4 45 0 0 1 0 0 PBX3 5090 broad.mit.edu 37 9 128724493 128724493 + Splice_Site SNP G G A TCGA-69-7763-01A-11D-2167-08 TCGA-69-7763-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8dbe8f2d-38c0-4d35-bb53-d43e759784ee da990b8c-9ccd-4a64-811b-5a6a6177ac99 g.chr9:128724493G>A ENST00000373487.4 + 8 1265 c.1185_splice c.e8+1 p.Q395_splice PBX3_ENST00000342287.5_Intron|PBX3_ENST00000373489.5_Splice_Site_p.Q374_splice|PBX3_ENST00000538998.1_Intron|PBX3_ENST00000373483.2_Splice_Site_p.Q193_splice|PBX3_ENST00000447726.2_Splice_Site_p.Q299_splice P40426 PBX3_HUMAN pre-B-cell leukemia homeobox 3 374 anterior compartment pattern formation|posterior compartment specification sequence-specific DNA binding transcription factor activity biliary_tract(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2) 24 TGCAATCACAGGTAGGAGAAA 0.507000 4 22 0 0 1 0 0 PPP1R3A 5506 broad.mit.edu 37 7 113558434 113558434 + Missense_Mutation SNP C C A TCGA-69-7763-01A-11D-2167-08 TCGA-69-7763-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8dbe8f2d-38c0-4d35-bb53-d43e759784ee da990b8c-9ccd-4a64-811b-5a6a6177ac99 g.chr7:113558434C>A ENST00000284601.3 - 1 686 c.618G>T c.(616-618)gaG>gaT p.E206D NM_002711.3 NP_002702.2 Q16821 PPR3A_HUMAN protein phosphatase 1, regulatory subunit 3A 206 CBM21. glycogen metabolic process integral to membrane NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2) 121 GTATACAAAACTCAACTTTAC 0.343000 4 19 0.00024832 0.00027197 1 1 0 STYXL1 51657 broad.mit.edu 37 7 75634594 75634594 + Silent SNP G G A TCGA-69-7763-01A-11D-2167-08 TCGA-69-7763-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8dbe8f2d-38c0-4d35-bb53-d43e759784ee da990b8c-9ccd-4a64-811b-5a6a6177ac99 g.chr7:75634594G>A ENST00000451157.1 - 6 751 c.582C>T c.(580-582)tcC>tcT p.S194S STYXL1_ENST00000431581.1_Silent_p.S194S|STYXL1_ENST00000248600.1_Silent_p.S194S|STYXL1_ENST00000340062.5_Silent_p.S98S|STYXL1_ENST00000360591.3_3'UTR|STYXL1_ENST00000359697.3_Silent_p.S194S Q9Y6J8 STYL1_HUMAN serine/threonine/tyrosine interacting-like 1 194 Tyrosine-protein phosphatase. intracellular signal transduction|protein dephosphorylation intracellular protein binding|protein tyrosine/serine/threonine phosphatase activity endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(1) 10 CTGTATCCATGGAGACATTGA 0.318000 6 23 0 0 1 0 0 PRAM1 84106 broad.mit.edu 37 19 8564620 8564620 + Silent SNP G G C TCGA-69-7763-01A-11D-2167-08 TCGA-69-7763-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8dbe8f2d-38c0-4d35-bb53-d43e759784ee da990b8c-9ccd-4a64-811b-5a6a6177ac99 g.chr19:8564620G>C ENST00000423345.4 - 2 592 c.72C>G c.(70-72)gcC>gcG p.A24A PRAM1_ENST00000255612.3_Silent_p.A24A Q96QH2 PRAM_HUMAN PML-RARA regulated adaptor molecule 1 24 lipid binding|protein binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1) 19 CCGGCTGAGAGGCCTGGAACT 0.562000 5 13 0 0 1 0 0 CLUL1 27098 broad.mit.edu 37 18 641426 641426 + Missense_Mutation SNP G G A TCGA-69-7763-01A-11D-2167-08 TCGA-69-7763-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8dbe8f2d-38c0-4d35-bb53-d43e759784ee da990b8c-9ccd-4a64-811b-5a6a6177ac99 g.chr18:641426G>A ENST00000581619.1 + 7 2016 c.1169G>A c.(1168-1170)cGg>cAg p.R390Q CLUL1_ENST00000540035.1_Missense_Mutation_p.R417Q|CLUL1_ENST00000579494.1_Missense_Mutation_p.R365Q|CLUL1_ENST00000400606.2_Missense_Mutation_p.R365Q|CLUL1_ENST00000338387.7_Missense_Mutation_p.R365Q|C18orf56_ENST00000585033.1_3'UTR Q15846 CLUL1_HUMAN clusterin-like 1 (retinal) 365 cell death extracellular region NS(1)|breast(1)|endometrium(5)|large_intestine(5)|liver(2)|lung(7)|ovary(2)|skin(1) 24 CAGATGACCCGGAAGCACTTG 0.522000 15 110 0 0 1 0 0 MYH7 4625 broad.mit.edu 37 14 23902380 23902380 + Missense_Mutation SNP T T A TCGA-69-7763-01A-11D-2167-08 TCGA-69-7763-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8dbe8f2d-38c0-4d35-bb53-d43e759784ee da990b8c-9ccd-4a64-811b-5a6a6177ac99 g.chr14:23902380T>A ENST00000355349.3 - 4 420 c.258A>T c.(256-258)aaA>aaT p.K86N NM_000257.2 NP_000248.2 P12883 MYH7_HUMAN myosin, heavy chain 7, cardiac muscle, beta 86 Myosin head-like. adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 137 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00725) TGTCCTCGATTTTGTCGAACT 0.587000 23 99 0 0 1 0 0 FAT4 79633 broad.mit.edu 37 4 126372162 126372162 + Missense_Mutation SNP G G T TCGA-69-7763-01A-11D-2167-08 TCGA-69-7763-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8dbe8f2d-38c0-4d35-bb53-d43e759784ee da990b8c-9ccd-4a64-811b-5a6a6177ac99 g.chr4:126372162G>T ENST00000394329.3 + 9 10004 c.9991G>T c.(9991-9993)Ggg>Tgg p.G3331W FAT4_ENST00000335110.5_Missense_Mutation_p.G1629W NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 3331 Cadherin 32. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 GGGCACTGATGGGGAGGTACA 0.383000 8 57 3.09899e-07 3.71233e-07 1 1 0 ZBTB9 221504 broad.mit.edu 37 6 33424182 33424182 + Silent SNP A A T TCGA-69-7763-01A-11D-2167-08 TCGA-69-7763-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8dbe8f2d-38c0-4d35-bb53-d43e759784ee da990b8c-9ccd-4a64-811b-5a6a6177ac99 g.chr6:33424182A>T ENST00000395064.2 + 2 1573 c.1305A>T c.(1303-1305)ggA>ggT p.G435G NM_152735.3 NP_689948.1 Q96C00 ZBTB9_HUMAN zinc finger and BTB domain containing 9 435 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|skin(1)|upper_aerodigestive_tract(2) 11 CCCATGCTGGAGCCCTGCATG 0.607000 14 100 0 0 1 0 0 MSL3 10943 broad.mit.edu 37 X 11793130 11793130 + Missense_Mutation SNP C C T TCGA-69-7763-01A-11D-2167-08 TCGA-69-7763-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8dbe8f2d-38c0-4d35-bb53-d43e759784ee da990b8c-9ccd-4a64-811b-5a6a6177ac99 g.chrX:11793130C>T ENST00000380693.3 + 12 1637 c.1000C>T c.(1000-1002)Cca>Tca p.P334S MSL3_ENST00000312196.4_Missense_Mutation_p.P500S|MSL3_ENST00000361672.2_Missense_Mutation_p.P351S|MSL3_ENST00000398527.2_Missense_Mutation_p.P488S NM_006800.3 NP_006791.2 Q8N5Y2 MS3L1_HUMAN male-specific lethal 3 homolog (Drosophila) 500 histone H4-K16 acetylation|multicellular organismal development|transcription from RNA polymerase II promoter MSL complex DNA binding|methylated histone residue binding|sequence-specific DNA binding transcription factor activity breast(1)|central_nervous_system(3)|cervix(1)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|urinary_tract(1) 19 TGACTTCTTCCCAGAGTCGGC 0.423000 3 38 0 0 1 0 0 ATXN1 6310 broad.mit.edu 37 6 16328069 16328069 + Missense_Mutation SNP G G T TCGA-69-7763-01A-11D-2167-08 TCGA-69-7763-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8dbe8f2d-38c0-4d35-bb53-d43e759784ee da990b8c-9ccd-4a64-811b-5a6a6177ac99 g.chr6:16328069G>T ENST00000244769.4 - 8 1409 c.473C>A c.(472-474)gCa>gAa p.A158E ATXN1_ENST00000436367.1_Missense_Mutation_p.A158E NM_000332.3 NP_000323.2 P54253 ATX1_HUMAN ataxin 1 158 cell death|negative regulation of transcription, DNA-dependent|nuclear export|RNA processing cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein binding|protein C-terminus binding|protein self-association NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2) 44 Breast(50;0.063)|Ovarian(93;0.0733) all_hematologic(90;0.000682)|Ovarian(999;0.00973) CGAGGCCACTGCACTGGTGAC 0.627000 34 115 1.90571e-15 2.43507e-15 1 1 0 KCNC1 3746 broad.mit.edu 37 11 17757663 17757663 + Silent SNP G G A TCGA-69-7763-01A-11D-2167-08 TCGA-69-7763-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8dbe8f2d-38c0-4d35-bb53-d43e759784ee da990b8c-9ccd-4a64-811b-5a6a6177ac99 g.chr11:17757663G>A ENST00000379472.3 + 1 144 c.114G>A c.(112-114)gcG>gcA p.A38A KCNC1_ENST00000265969.6_Silent_p.A38A NM_004976.4 NP_004967.1 P48547 KCNC1_HUMAN potassium voltage-gated channel, Shaw-related subfamily, member 1 38 voltage-gated potassium channel complex voltage-gated potassium channel activity breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(7)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 33 CCTGGCTGGCGGAGCCCGACG 0.682000 4 18 0 0 1 0 0 KDR 3791 broad.mit.edu 37 4 55981109 55981109 + Missense_Mutation SNP A A T TCGA-69-7763-01A-11D-2167-08 TCGA-69-7763-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8dbe8f2d-38c0-4d35-bb53-d43e759784ee da990b8c-9ccd-4a64-811b-5a6a6177ac99 g.chr4:55981109A>T ENST00000263923.4 - 5 885 c.590T>A c.(589-591)aTg>aAg p.M197K NM_002253.2 NP_002244.1 P35968 VGFR2_HUMAN kinase insert domain receptor (a type III receptor tyrosine kinase) 197 Ig-like C2-type 2. angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape integral to plasma membrane ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 135 all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101) Epithelial(7;0.189) Sorafenib(DB00398)|Sunitinib(DB01268) ACAGAAGACCATGCCAGCATA 0.383000 Mis """NSCLC, angiosarcoma""" TSP Lung(20;0.16) 3 24 0 0 1 0 0 EYS 346007 broad.mit.edu 37 6 66205100 66205100 + Silent SNP A A T TCGA-69-7763-01A-11D-2167-08 TCGA-69-7763-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8dbe8f2d-38c0-4d35-bb53-d43e759784ee da990b8c-9ccd-4a64-811b-5a6a6177ac99 g.chr6:66205100A>T ENST00000503581.1 - 4 741 c.204T>A c.(202-204)acT>acA p.T68T EYS_ENST00000393380.2_Silent_p.T68T|EYS_ENST00000370618.3_Silent_p.T68T|EYS_ENST00000342421.5_Silent_p.T68T|EYS_ENST00000370616.2_Silent_p.T68T|EYS_ENST00000370621.3_Silent_p.T68T NM_001142800.1 NP_001136272.1 Q5T1H1 EYS_HUMAN eyes shut homolog (Drosophila) 68 response to stimulus|visual perception extracellular region calcium ion binding breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3) 69 GATTGCCTGAAGTATCTATTT 0.368000 8 80 0 0 1 0 0 GNA12 2768 broad.mit.edu 37 7 2834581 2834581 + Missense_Mutation SNP C C T TCGA-69-7763-01A-11D-2167-08 TCGA-69-7763-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8dbe8f2d-38c0-4d35-bb53-d43e759784ee da990b8c-9ccd-4a64-811b-5a6a6177ac99 g.chr7:2834581C>T ENST00000275364.3 - 2 668 c.506G>A c.(505-507)cGg>cAg p.R169Q GNA12_ENST00000407904.3_Missense_Mutation_p.R110Q|GNA12_ENST00000544127.1_Missense_Mutation_p.R93Q NM_007353.2 NP_031379.2 Q03113 GNA12_HUMAN guanine nucleotide binding protein (G protein) alpha 12 169 G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|Rho protein signal transduction brush border membrane|heterotrimeric G-protein complex D5 dopamine receptor binding|G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|signal transducer activity endometrium(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 13 Ovarian(82;0.0112) OV - Ovarian serous cystadenocarcinoma(56;1.02e-13) CTCGCTTCTCCGGCTGAAAGC 0.552000 4 99 0 0 1 0 0 VEGFA 7422 broad.mit.edu 37 6 43745332 43745332 + Missense_Mutation SNP G G T TCGA-69-7763-01A-11D-2167-08 TCGA-69-7763-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8dbe8f2d-38c0-4d35-bb53-d43e759784ee da990b8c-9ccd-4a64-811b-5a6a6177ac99 g.chr6:43745332G>T ENST00000372067.3 + 3 1279 c.785G>T c.(784-786)cGa>cTa p.R262L VEGFA_ENST00000520948.1_Missense_Mutation_p.R82L|VEGFA_ENST00000523125.1_Missense_Mutation_p.R82L|VEGFA_ENST00000324450.6_Missense_Mutation_p.R262L|VEGFA_ENST00000518824.1_Missense_Mutation_p.R82L|VEGFA_ENST00000457104.2_Missense_Mutation_p.R82L|VEGFA_ENST00000230480.6_Missense_Mutation_p.R54L|VEGFA_ENST00000518689.1_Missense_Mutation_p.R82L|VEGFA_ENST00000523873.1_Missense_Mutation_p.R82L|VEGFA_ENST00000413642.3_Missense_Mutation_p.R262L|VEGFA_ENST00000523950.1_Missense_Mutation_p.R82L|VEGFA_ENST00000417285.2_Missense_Mutation_p.R262L|VEGFA_ENST00000482630.2_Missense_Mutation_p.R262L|VEGFA_ENST00000372064.4_Missense_Mutation_p.R262L|VEGFA_ENST00000425836.2_Missense_Mutation_p.R262L|VEGFA_ENST00000372077.4_Missense_Mutation_p.R82L|VEGFA_ENST00000372055.4_Missense_Mutation_p.R262L NM_001025366.2|NM_001025367.2|NM_001025368.2|NM_001025369.2|NM_001033756.2|NM_001171623.1|NM_001171624.1|NM_001171625.1|NM_001171626.1|NM_001171627.1|NM_001171629.1|NM_003376.5 NP_001020537.2|NP_001020538.2|NP_001020539.2|NP_001020540.2|NP_001028928.1|NP_001165094.1|NP_001165095.1|NP_001165096.1|NP_001165097.1|NP_001165098.1|NP_001165100.1|NP_003367.4 P15692 VEGFA_HUMAN vascular endothelial growth factor A 82 basophil chemotaxis|cellular response to hypoxia|induction of positive chemotaxis|platelet activation|platelet degranulation|platelet-derived growth factor receptor signaling pathway|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of cell adhesion|positive regulation of cell division|positive regulation of endothelial cell proliferation|positive regulation of leukocyte migration|positive regulation of mast cell chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|positive regulation of vascular permeability|regulation of cell shape|vascular endothelial growth factor receptor signaling pathway|vasculogenesis cell surface|extracellular space|membrane|platelet alpha granule lumen cell surface binding|chemoattractant activity|cytokine activity|fibronectin binding|growth factor activity|heparin binding|platelet-derived growth factor receptor binding|protein heterodimerization activity|protein homodimerization activity|vascular endothelial growth factor receptor 1 binding|vascular endothelial growth factor receptor 2 binding|vascular endothelial growth factor receptor binding breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1) 9 all_cancers(18;5.46e-07)|all_epithelial(2;5.96e-08)|Lung NSC(15;0.000157)|all_lung(25;0.000486)|Hepatocellular(11;0.00309) all cancers(41;0.000413)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0742)|OV - Ovarian serous cystadenocarcinoma(102;0.196) Atorvastatin(DB01076)|Bevacizumab(DB00112)|Carvedilol(DB01136)|Ginkgo biloba(DB01381)|Gliclazide(DB01120)|Minocycline(DB01017)|Ranibizumab(DB01270)|Simvastatin(DB00641) CCCCTGATGCGATGCGGGGGC 0.587000 18 59 1.33834e-09 1.65493e-09 1 1 0 ANKFN1 162282 broad.mit.edu 37 17 54428148 54428148 + Silent SNP G G A TCGA-69-7763-01A-11D-2167-08 TCGA-69-7763-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8dbe8f2d-38c0-4d35-bb53-d43e759784ee da990b8c-9ccd-4a64-811b-5a6a6177ac99 g.chr17:54428148G>A ENST00000566473.2 + 4 219 c.219G>A c.(217-219)acG>acA p.T73T ANKFN1_ENST00000318698.2_Silent_p.T73T Q8N957 ANKF1_HUMAN ankyrin-repeat and fibronectin type III domain containing 1 73 p.T73T(1) NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1) 53 TGAAAATGACGCAACAAATGC 0.388000 10 44 0 0 1 0 0 ERCC5 2073 broad.mit.edu 37 13 103528149 103528149 + Missense_Mutation SNP G G A TCGA-69-7763-01A-11D-2167-08 TCGA-69-7763-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8dbe8f2d-38c0-4d35-bb53-d43e759784ee da990b8c-9ccd-4a64-811b-5a6a6177ac99 g.chr13:103528149G>A ENST00000355739.4 + 15 4880 c.3457G>A c.(3457-3459)Gac>Aac p.D1153N ERCC5_ENST00000472247.1_3'UTR|ERCC5_ENST00000375954.1_Missense_Mutation_p.D386N NM_000123.3 NP_000114.2 excision repair cross-complementing rodent repair deficiency, complementation group 5 breast(3)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 51 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211) TGATAGTGATGACGATGGAGG 0.493000 """Mis, N, F""" """skin basal cell, skin squamous cell, melanoma""" Nucleotide excision repair (NER) Xeroderma Pigmentosum 13 21 0 0 1 0 0 RAB15 376267 broad.mit.edu 37 14 65417809 65417809 + Missense_Mutation SNP C C A TCGA-69-7763-01A-11D-2167-08 TCGA-69-7763-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8dbe8f2d-38c0-4d35-bb53-d43e759784ee da990b8c-9ccd-4a64-811b-5a6a6177ac99 g.chr14:65417809C>A ENST00000533601.2 - 4 644 c.307G>T c.(307-309)Gtc>Ttc p.V103F RAB15_ENST00000426039.3_Missense_Mutation_p.V57F|RAB15_ENST00000267512.5_Missense_Mutation_p.V103F|CHURC1-FNTB_ENST00000447296.2_Intron|RAB15_ENST00000436278.2_Missense_Mutation_p.V57F|CHURC1-FNTB_ENST00000542227.1_Intron P59190 RAB15_HUMAN RAB15, member RAS oncogene family 103 protein transport|small GTPase mediated signal transduction plasma membrane GTP binding endometrium(1)|large_intestine(2)|lung(4)|ovary(1) 8 all cancers(60;0.00136)|OV - Ovarian serous cystadenocarcinoma(108;0.00593)|BRCA - Breast invasive adenocarcinoma(234;0.0102) ACGTCACTGACCCACTTCATG 0.542000 4 72 0.014758 0.0155704 1 1 0 TMC5 79838 broad.mit.edu 37 16 19485537 19485537 + Missense_Mutation SNP A A T TCGA-69-7763-01A-11D-2167-08 TCGA-69-7763-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8dbe8f2d-38c0-4d35-bb53-d43e759784ee da990b8c-9ccd-4a64-811b-5a6a6177ac99 g.chr16:19485537A>T ENST00000396229.2 + 12 2778 c.2029A>T c.(2029-2031)Atg>Ttg p.M677L TMC5_ENST00000561503.1_Missense_Mutation_p.M318L|TMC5_ENST00000541464.1_Missense_Mutation_p.M625L|TMC5_ENST00000219821.5_Missense_Mutation_p.M431L|TMC5_ENST00000564959.1_Missense_Mutation_p.M360L|TMC5_ENST00000542583.2_Missense_Mutation_p.M677L|TMC5_ENST00000381414.4_Missense_Mutation_p.M677L NM_001105248.1 NP_001098718.1 Q6UXY8 TMC5_HUMAN transmembrane channel-like 5 677 integral to membrane NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 31 CATCTACTCCATGTTCAGGCT 0.552000 5 157 0 0 1 0 0 TLR4 7099 broad.mit.edu 37 9 120475991 120475991 + Missense_Mutation SNP C C A TCGA-69-7763-01A-11D-2167-08 TCGA-69-7763-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8dbe8f2d-38c0-4d35-bb53-d43e759784ee da990b8c-9ccd-4a64-811b-5a6a6177ac99 g.chr9:120475991C>A ENST00000355622.6 + 3 1686 c.1585C>A c.(1585-1587)Cac>Aac p.H529N TLR4_ENST00000394487.4_Missense_Mutation_p.H489N|TLR4_ENST00000472304.1_3'UTR NM_138554.4|NM_138557.2 NP_612564.1|NP_612567.1 O00206 TLR4_HUMAN toll-like receptor 4 529 activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm lipopolysaccharide receptor activity|transmembrane receptor activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1) 103 AAATATGAGCCACAACAACTT 0.413000 4 19 0.184627 0.184627 1 1 0 HIST1H2AK 8330 broad.mit.edu 37 6 27806013 27806013 + Silent SNP G G A TCGA-69-7763-01A-11D-2167-08 TCGA-69-7763-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8dbe8f2d-38c0-4d35-bb53-d43e759784ee da990b8c-9ccd-4a64-811b-5a6a6177ac99 g.chr6:27806013G>A ENST00000330180.2 - 1 104 c.105C>T c.(103-105)ctC>ctT p.L35L NM_003510.2 NP_003501.1 P0C0S8 H2A1_HUMAN histone cluster 1, H2ak 35 nucleosome assembly nucleosome|nucleus DNA binding|enzyme binding breast(2)|endometrium(2)|kidney(1)|lung(3)|upper_aerodigestive_tract(2) 10 TGCCCTTGCGGAGCAGTCGGT 0.662000 6 60 0 0 1 0 0 C5orf54 63920 broad.mit.edu 37 5 159822295 159822295 + Missense_Mutation SNP T T A TCGA-69-7763-01A-11D-2167-08 TCGA-69-7763-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8dbe8f2d-38c0-4d35-bb53-d43e759784ee da990b8c-9ccd-4a64-811b-5a6a6177ac99 g.chr5:159822295T>A ENST00000408953.3 - 2 710 c.203A>T c.(202-204)cAt>cTt p.H68L C5orf54_ENST00000523213.1_Missense_Mutation_p.H68L NM_022090.3 NP_071373.2 Q8IZ13 CE054_HUMAN chromosome 5 open reading frame 54 68 breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 12 tgctggcatatgcttcaggct 0.408000 16 99 0 0 1 0 0 ZNF613 79898 broad.mit.edu 37 19 52447726 52447726 + Missense_Mutation SNP C C A TCGA-69-7763-01A-11D-2167-08 TCGA-69-7763-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8dbe8f2d-38c0-4d35-bb53-d43e759784ee da990b8c-9ccd-4a64-811b-5a6a6177ac99 g.chr19:52447726C>A ENST00000293471.6 + 6 1269 c.590C>A c.(589-591)aCt>aAt p.T197N ZNF613_ENST00000391794.4_Missense_Mutation_p.T161N NM_001031721.3 NP_001026891.2 Q6PF04 ZN613_HUMAN zinc finger protein 613 197 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1) 19 all_neural(266;0.117) GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.0183) CATCAGCGAACTCAAAACATA 0.408000 52 193 3.4597e-24 4.57317e-24 1 1 0 PCDHB15 56121 broad.mit.edu 37 5 140627195 140627195 + Silent SNP C C T TCGA-69-7763-01A-11D-2167-08 TCGA-69-7763-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8dbe8f2d-38c0-4d35-bb53-d43e759784ee da990b8c-9ccd-4a64-811b-5a6a6177ac99 g.chr5:140627195C>T ENST00000231173.3 + 1 2049 c.2049C>T c.(2047-2049)gcC>gcT p.A683A NM_018935.2 NP_061758.1 Q9Y5E8 PCDBF_HUMAN 683 homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding p.A683A(1) NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2) 61 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) AAGCCCAGGCCGACTCGCTTA 0.672000 46 132 0 0 1 0 0 SPCS2 9789 broad.mit.edu 37 11 74676882 74676882 + Silent SNP C C T TCGA-69-7763-01A-11D-2167-08 TCGA-69-7763-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8dbe8f2d-38c0-4d35-bb53-d43e759784ee da990b8c-9ccd-4a64-811b-5a6a6177ac99 g.chr11:74676882C>T ENST00000263672.6 + 3 312 c.273C>T c.(271-273)tcC>tcT p.S91S SPCS2_ENST00000530257.1_Intron|SPCS2_ENST00000526361.1_Intron|SPCS2_ENST00000528265.1_Intron NM_014752.2 NP_055567.2 Q15005 SPCS2_HUMAN signal peptidase complex subunit 2 homolog (S. cerevisiae) 91 energy reserve metabolic process|regulation of insulin secretion|signal peptide processing integral to membrane|microsome|signal peptidase complex peptidase activity breast(1) 1 GTACAATCTCCTGTTTCTTTG 0.393000 9 52 0 0 1 0 0 FAM49B 51571 broad.mit.edu 37 8 130883703 130883703 + Missense_Mutation SNP T T C TCGA-69-7763-01A-11D-2167-08 TCGA-69-7763-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8dbe8f2d-38c0-4d35-bb53-d43e759784ee da990b8c-9ccd-4a64-811b-5a6a6177ac99 g.chr8:130883703T>C ENST00000519824.2 - 4 386 c.113A>G c.(112-114)cAg>cGg p.Q38R FAM49B_ENST00000522250.1_5'UTR|FAM49B_ENST00000519540.1_Missense_Mutation_p.Q38R|FAM49B_ENST00000518879.1_Intron|FAM49B_ENST00000517654.1_Missense_Mutation_p.Q38R|FAM49B_ENST00000519110.1_Missense_Mutation_p.Q38R|FAM49B_ENST00000522941.1_5'UTR|FAM49B_ENST00000522746.1_Missense_Mutation_p.Q38R|FAM49B_ENST00000401979.2_Missense_Mutation_p.Q38R|FAM49B_ENST00000523509.1_Missense_Mutation_p.Q38R NM_016623.4 NP_057707.3 Q9NUQ9 FA49B_HUMAN family with sequence similarity 49, member B 38 kidney(1)|large_intestine(6)|lung(4)|prostate(1) 12 Ovarian(5;0.000567)|Esophageal squamous(12;0.00693)|Acute lymphoblastic leukemia(118;0.155) LUAD - Lung adenocarcinoma(14;0.0989) TACATTCACCTGATTATAAAT 0.388000 4 45 0 0 1 0 0 DHX8 1659 broad.mit.edu 37 17 41569551 41569551 + Splice_Site SNP A A T TCGA-69-7763-01A-11D-2167-08 TCGA-69-7763-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8dbe8f2d-38c0-4d35-bb53-d43e759784ee da990b8c-9ccd-4a64-811b-5a6a6177ac99 g.chr17:41569551A>T ENST00000262415.3 + 5 466 c.393_splice c.e5-1 p.T132_splice DHX8_ENST00000540306.1_Splice_Site_p.T132_splice NM_004941.1 NP_004932.1 Q14562 DHX8_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 8 132 catalytic step 2 spliceosome ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1) 42 Breast(137;0.00908) BRCA - Breast invasive adenocarcinoma(366;0.08) ACCTCTGCAGACCATGTTGGA 0.443000 8 26 0 0 1 0 0 RYR1 6261 broad.mit.edu 37 19 38979989 38979989 + Missense_Mutation SNP A A G TCGA-69-7763-01A-11D-2167-08 TCGA-69-7763-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8dbe8f2d-38c0-4d35-bb53-d43e759784ee da990b8c-9ccd-4a64-811b-5a6a6177ac99 g.chr19:38979989A>G ENST00000355481.4 + 35 5851 c.5720A>G c.(5719-5721)gAa>gGa p.E1907G RYR1_ENST00000359596.3_Missense_Mutation_p.E1907G|RYR1_ENST00000360985.3_Missense_Mutation_p.E1907G NM_000540.2|NM_001042723.1 NP_000531.2|NP_001036188.1 P21817 RYR1_HUMAN ryanodine receptor 1 (skeletal) 1907 6 X approximate repeats.|Glu-rich (acidic). muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7) 285 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) gaagatgaggaaaaagaggaa 0.527000 13 33 0 0 1 0 0 CAMK2B 816 broad.mit.edu 37 7 44268445 44268445 + Missense_Mutation SNP C C G TCGA-69-7763-01A-11D-2167-08 TCGA-69-7763-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8dbe8f2d-38c0-4d35-bb53-d43e759784ee da990b8c-9ccd-4a64-811b-5a6a6177ac99 g.chr7:44268445C>G ENST00000395749.2 - 19 1494 c.1418G>C c.(1417-1419)gGg>gCg p.G473A CAMK2B_ENST00000440254.2_Intron|CAMK2B_ENST00000353625.4_Intron|CAMK2B_ENST00000502837.2_Intron|CAMK2B_ENST00000457475.1_Intron|CAMK2B_ENST00000489429.1_5'UTR|CAMK2B_ENST00000395747.2_Intron|CAMK2B_ENST00000358707.3_Intron|CAMK2B_ENST00000350811.3_Intron|CAMK2B_ENST00000347193.4_Intron|CAMK2B_ENST00000346990.4_Intron|CAMK2B_ENST00000258682.6_Intron NM_001220.4 NP_001211.3 Q13554 KCC2B_HUMAN calcium/calmodulin-dependent protein kinase II beta 473 interferon-gamma-mediated signaling pathway|synaptic transmission cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1) 18 GGGCGGGGGCCCCGCTGAGAG 0.677000 5 0 0 0 1 0 0 ATP7B 540 broad.mit.edu 37 13 52509127 52509127 + Missense_Mutation SNP G G A TCGA-69-7763-01A-11D-2167-08 TCGA-69-7763-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8dbe8f2d-38c0-4d35-bb53-d43e759784ee da990b8c-9ccd-4a64-811b-5a6a6177ac99 g.chr13:52509127G>A ENST00000242839.4 - 21 4319 c.4163C>T c.(4162-4164)gCg>gTg p.A1388V ATP7B_ENST00000417240.2_Missense_Mutation_p.A599V|ATP7B_ENST00000448424.2_Missense_Mutation_p.A1310V|ATP7B_ENST00000400366.3_Missense_Mutation_p.A1277V|ATP7B_ENST00000400370.3_Missense_Mutation_p.A958V|ATP7B_ENST00000344297.5_Missense_Mutation_p.A1181V|ATP7B_ENST00000418097.2_Missense_Mutation_p.A1323V NM_000053.3 NP_000044.2 P35670 ATP7B_HUMAN ATPase, Cu++ transporting, beta polypeptide 1388 ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion Golgi membrane|integral to plasma membrane|late endosome|mitochondrion ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2) 55 Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19) GBM - Glioblastoma multiforme(99;5.25e-08) GTGGCCATGCGCCTGTGCCTC 0.547000 Wilson disease 11 45 0 0 1 0 0 TLE4 7091 broad.mit.edu 37 9 82323092 82323092 + Silent SNP G G T TCGA-69-7763-01A-11D-2167-08 TCGA-69-7763-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8dbe8f2d-38c0-4d35-bb53-d43e759784ee da990b8c-9ccd-4a64-811b-5a6a6177ac99 g.chr9:82323092G>T ENST00000376520.4 + 13 1920 c.1092G>T c.(1090-1092)gcG>gcT p.A364A TLE4_ENST00000376537.4_Silent_p.A364A|TLE4_ENST00000376534.4_5'UTR|TLE4_ENST00000376552.2_Silent_p.A332A|TLE4_ENST00000265284.6_Silent_p.A307A|TLE4_ENST00000376544.3_Silent_p.A263A O60756 BCE1_HUMAN transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila) 0 breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 39 GAACTGATGCGCCCACCCCAG 0.438000 12 75 5.50884e-06 6.46445e-06 1 1 0 CCDC90B 60492 broad.mit.edu 37 11 82972966 82972966 + Missense_Mutation SNP C C G TCGA-69-7763-01A-11D-2167-08 TCGA-69-7763-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8dbe8f2d-38c0-4d35-bb53-d43e759784ee da990b8c-9ccd-4a64-811b-5a6a6177ac99 g.chr11:82972966C>G ENST00000529689.1 - 9 1186 c.752G>C c.(751-753)aGa>aCa p.R251T CCDC90B_ENST00000525504.1_5'UTR|CCDC90B_ENST00000529611.1_Missense_Mutation_p.R150T|CCDC90B_ENST00000525503.1_Missense_Mutation_p.R150T|CCDC90B_ENST00000455220.2_Missense_Mutation_p.R242T Q9GZT6 CC90B_HUMAN coiled-coil domain containing 90B 251 integral to membrane|mitochondrion kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1) 10 Acute lymphoblastic leukemia(157;0.103) CTTCCAGAATCTATAAAATCC 0.388000 5 99 0 0 1 0 0 SRD5A2 6716 broad.mit.edu 37 2 31805965 31805965 + RNA SNP T T A TCGA-69-7763-01A-11D-2167-08 TCGA-69-7763-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8dbe8f2d-38c0-4d35-bb53-d43e759784ee da990b8c-9ccd-4a64-811b-5a6a6177ac99 g.chr2:31805965T>A ENST00000405650.1 - 0 171 P31213 S5A2_HUMAN steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2) androgen biosynthetic process|cell differentiation|cell-cell signaling|male gonad development endoplasmic reticulum membrane|integral to membrane|microsome 3-oxo-5-alpha-steroid 4-dehydrogenase activity|sterol 5-alpha reductase activity Acute lymphoblastic leukemia(172;0.155) Azelaic Acid(DB00548)|Dutasteride(DB01126) GCACTGAACCTGCATCGCGCC 0.697000 6 35 0 0 1 0 0 SCN5A 6331 broad.mit.edu 37 3 38591931 38591931 + Missense_Mutation SNP C C G TCGA-69-7763-01A-11D-2167-08 TCGA-69-7763-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8dbe8f2d-38c0-4d35-bb53-d43e759784ee da990b8c-9ccd-4a64-811b-5a6a6177ac99 g.chr3:38591931C>G ENST00000413689.1 - 28 6125 c.5932G>C c.(5932-5934)Gac>Cac p.D1978H SCN5A_ENST00000423572.2_Missense_Mutation_p.D1977H|SCN5A_ENST00000450102.2_Missense_Mutation_p.D1924H|SCN5A_ENST00000443581.1_Missense_Mutation_p.D1977H|SCN5A_ENST00000451551.2_Missense_Mutation_p.D1924H|SCN5A_ENST00000414099.2_Missense_Mutation_p.D1960H|SCN5A_ENST00000449557.2_Missense_Mutation_p.D1924H|SCN5A_ENST00000455624.2_Missense_Mutation_p.D1945H|SCN5A_ENST00000333535.4_Missense_Mutation_p.D1978H|SCN5A_ENST00000425664.1_Missense_Mutation_p.D1960H NM_001099404.1|NM_001160160.1 NP_001092874.1|NP_001153632.1 Q14524 SCN5A_HUMAN sodium channel, voltage-gated, type V, alpha subunit 1978 blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction sarcolemma|voltage-gated sodium channel complex protein binding|voltage-gated sodium channel activity NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4) 107 Medulloblastoma(35;0.163) KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1) Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661) GTGACACTGTCATAGGAGGGT 0.602000 3 44 0 0 1 0 0 ZNF285 26974 broad.mit.edu 37 19 44891618 44891618 + Silent SNP G G A TCGA-69-7763-01A-11D-2167-08 TCGA-69-7763-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8dbe8f2d-38c0-4d35-bb53-d43e759784ee da990b8c-9ccd-4a64-811b-5a6a6177ac99 g.chr19:44891618G>A ENST00000330997.4 - 4 853 c.789C>T c.(787-789)gaC>gaT p.D263D ZNF285_ENST00000544719.2_Silent_p.D263D|CTC-512J12.6_ENST00000588212.1_Intron|ZNF285_ENST00000591679.1_Silent_p.D270D NM_152354.3 NP_689567.3 zinc finger protein 285 breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|prostate(5)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 44 TTCCATACTGGTCACATTTAT 0.433000 35 81 0 0 1 0 0 WASH3P 374666 broad.mit.edu 37 15 102516424 102516424 + RNA SNP G G T TCGA-69-7763-01A-11D-2167-08 TCGA-69-7763-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8dbe8f2d-38c0-4d35-bb53-d43e759784ee da990b8c-9ccd-4a64-811b-5a6a6177ac99 g.chr15:102516424G>T ENST00000557932.1 + 0 1372 p.P449P(4) central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1) 25 TGCCGCCACCGCAGCAGCCAC 0.647000 7 68 0.000157383 0.00017403 1 1 0 LRP1B 53353 broad.mit.edu 37 2 141291668 141291668 + Missense_Mutation SNP G G T rs151047433 TCGA-69-7763-01A-11D-2167-08 TCGA-69-7763-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8dbe8f2d-38c0-4d35-bb53-d43e759784ee da990b8c-9ccd-4a64-811b-5a6a6177ac99 g.chr2:141291668G>T ENST00000389484.3 - 47 8655 c.7684C>A c.(7684-7686)Cgc>Agc p.R2562S NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 2562 LDL-receptor class A 12. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding p.R2562C(1) NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) ATGCAGCGGCGATTATAGCAT 0.363000 TSP Lung(27;0.18) 5 31 1.23904e-05 1.43929e-05 1 1 0 LRCH3 84859 broad.mit.edu 37 3 197518157 197518157 + Missense_Mutation SNP C C T TCGA-69-7763-01A-11D-2167-08 TCGA-69-7763-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8dbe8f2d-38c0-4d35-bb53-d43e759784ee da990b8c-9ccd-4a64-811b-5a6a6177ac99 g.chr3:197518157C>T ENST00000438796.2 + 1 52 c.8C>T c.(7-9)gCc>gTc p.A3V LRCH3_ENST00000334859.4_Missense_Mutation_p.A3V|LRCH3_ENST00000441090.2_Missense_Mutation_p.A3V|LRCH3_ENST00000414675.2_Missense_Mutation_p.A3V|LRCH3_ENST00000425562.2_Missense_Mutation_p.A3V Q96II8 LRCH3_HUMAN leucine-rich repeats and calponin homology (CH) domain containing 3 3 extracellular region breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976) Epithelial(36;4.82e-24)|all cancers(36;3.61e-22)|OV - Ovarian serous cystadenocarcinoma(49;7.08e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07) GBM - Glioblastoma multiforme(93;0.119) GAAATGGCGGCCGCGGGCTTG 0.716000 6 9 0 0 1 0 0 ZNF521 25925 broad.mit.edu 37 18 22807567 22807567 + Silent SNP G G A rs145068263 TCGA-69-7763-01A-11D-2167-08 TCGA-69-7763-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8dbe8f2d-38c0-4d35-bb53-d43e759784ee da990b8c-9ccd-4a64-811b-5a6a6177ac99 g.chr18:22807567G>A ENST00000361524.3 - 4 463 c.315C>T c.(313-315)tgC>tgT p.C105C ZNF521_ENST00000538137.2_Silent_p.C105C|ZNF521_ENST00000584787.1_5'UTR NM_015461.2 NP_056276.1 Q96K83 ZN521_HUMAN zinc finger protein 521 105 cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein domain specific binding|zinc ion binding NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 149 all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991) CTCCAAAATCGCAACCTTCTC 0.517000 T PAX5 ALL 4 59 0 0 1 0 0 ZMYND8 23613 broad.mit.edu 37 20 45875019 45875019 + Missense_Mutation SNP G G C TCGA-69-7763-01A-11D-2167-08 TCGA-69-7763-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8dbe8f2d-38c0-4d35-bb53-d43e759784ee da990b8c-9ccd-4a64-811b-5a6a6177ac99 g.chr20:45875019G>C ENST00000311275.7 - 14 2210 c.1957C>G c.(1957-1959)Cca>Gca p.P653A ZMYND8_ENST00000352431.2_Missense_Mutation_p.P673A|ZMYND8_ENST00000355972.4_Missense_Mutation_p.P653A|ZMYND8_ENST00000262975.4_Missense_Mutation_p.P653A|ZMYND8_ENST00000540497.1_Missense_Mutation_p.P601A|ZMYND8_ENST00000468376.2_5'UTR|ZMYND8_ENST00000536340.1_Missense_Mutation_p.P680A|ZMYND8_ENST00000396281.4_Missense_Mutation_p.P653A|ZMYND8_ENST00000458360.2_Missense_Mutation_p.P648A|ZMYND8_ENST00000446994.2_Missense_Mutation_p.P590A|ZMYND8_ENST00000461685.1_Missense_Mutation_p.P673A|ZMYND8_ENST00000471951.2_Missense_Mutation_p.P673A|ZMYND8_ENST00000360911.3_Missense_Mutation_p.P648A|ZMYND8_ENST00000372023.3_Missense_Mutation_p.P648A Q9ULU4 PKCB1_HUMAN zinc finger, MYND-type containing 8 653 protein binding|zinc ion binding NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8) 62 Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154) TCGCTGGCTGGTGACGTGCTT 0.507000 24 83 0 0 1 0 0 ZNF488 118738 broad.mit.edu 37 10 48371096 48371096 + Silent SNP C C T TCGA-69-7763-01A-11D-2167-08 TCGA-69-7763-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8dbe8f2d-38c0-4d35-bb53-d43e759784ee da990b8c-9ccd-4a64-811b-5a6a6177ac99 g.chr10:48371096C>T ENST00000395702.2 + 2 791 c.564C>T c.(562-564)gcC>gcT p.A188A ZNF488_ENST00000586537.1_Silent_p.A81A|ZNF488_ENST00000494156.1_3'UTR Q96MN9 ZN488_HUMAN zinc finger protein 488 188 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|ovary(2) 14 CTGCAGATGCCCTGGGGGAGC 0.537000 8 58 0 0 1 0 0 PDE3B 5140 broad.mit.edu 37 11 14666460 14666460 + Missense_Mutation SNP G G A TCGA-69-7763-01A-11D-2167-08 TCGA-69-7763-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8dbe8f2d-38c0-4d35-bb53-d43e759784ee da990b8c-9ccd-4a64-811b-5a6a6177ac99 g.chr11:14666460G>A ENST00000282096.4 + 1 1192 c.839G>A c.(838-840)aGt>aAt p.S280N PDE3B_ENST00000534317.1_3'UTR|PDE3B_ENST00000455098.2_Missense_Mutation_p.S280N NM_000922.3 NP_000913.2 Q13370 PDE3B_HUMAN phosphodiesterase 3B, cGMP-inhibited 280 cAMP catabolic process|insulin receptor signaling pathway|negative regulation of lipid catabolic process|platelet activation cytosol|endoplasmic reticulum|Golgi apparatus|guanyl-nucleotide exchange factor complex|integral to membrane|microsome 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding|protein kinase B binding NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 CGACTGTCCAGTGCCGCCGAA 0.587000 17 56 0 0 1 0 0 LIN9 286826 broad.mit.edu 37 1 226421197 226421197 + Missense_Mutation SNP C C T TCGA-69-7763-01A-11D-2167-08 TCGA-69-7763-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8dbe8f2d-38c0-4d35-bb53-d43e759784ee da990b8c-9ccd-4a64-811b-5a6a6177ac99 g.chr1:226421197C>T ENST00000328205.5 - 13 1866 c.1321G>A c.(1321-1323)Gca>Aca p.A441T LIN9_ENST00000366801.1_Missense_Mutation_p.A390T|LIN9_ENST00000481685.1_Missense_Mutation_p.A406T NM_173083.3 NP_775106.2 Q5TKA1 LIN9_HUMAN lin-9 homolog (C. elegans) 425 cell cycle|DNA replication nucleoplasm breast(3)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 28 Breast(184;0.158) GBM - Glioblastoma multiforme(131;0.131) GGCTGATCTGCAGGCTGGAGC 0.483000 16 97 0 0 1 0 0 INSRR 3645 broad.mit.edu 37 1 156816537 156816537 + Silent SNP G G A TCGA-69-7763-01A-11D-2167-08 TCGA-69-7763-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8dbe8f2d-38c0-4d35-bb53-d43e759784ee da990b8c-9ccd-4a64-811b-5a6a6177ac99 g.chr1:156816537G>A ENST00000368195.3 - 8 1980 c.1584C>T c.(1582-1584)aaC>aaT p.N528N NTRK1_ENST00000392302.2_Intron NM_014215.2 NP_055030.1 P14616 INSRR_HUMAN insulin receptor-related receptor 528 Fibronectin type-III 1. protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2) 42 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) GCTCTGTGGCGTTCTGGAATG 0.617000 6 41 0 0 1 0 0 OPN5 221391 broad.mit.edu 37 6 47749807 47749807 + Missense_Mutation SNP C C T TCGA-69-7763-01A-11D-2167-08 TCGA-69-7763-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8dbe8f2d-38c0-4d35-bb53-d43e759784ee da990b8c-9ccd-4a64-811b-5a6a6177ac99 g.chr6:47749807C>T ENST00000489301.2 + 1 90 c.5C>T c.(4-6)gCg>gTg p.A2V OPN5_ENST00000371211.2_Missense_Mutation_p.A2V|OPN5_ENST00000393699.2_Missense_Mutation_p.A2V Q6U736 OPN5_HUMAN opsin 5 2 phototransduction|protein-chromophore linkage|visual perception integral to membrane G-protein coupled receptor activity|photoreceptor activity endometrium(1)|large_intestine(3)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2) 29 AACAGAATGGCGTTAAATCAC 0.498000 11 71 0 0 1 0 0 LOC101927079 101927079 broad.mit.edu 37 15 22332492 22332492 + RNA SNP A A C TCGA-69-7763-01A-11D-2167-08 TCGA-69-7763-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8dbe8f2d-38c0-4d35-bb53-d43e759784ee da990b8c-9ccd-4a64-811b-5a6a6177ac99 g.chr15:22332492A>C ENST00000558896.1 + 0 299 TATTTCTCTTATTACTATTTT 0.383000 4 163 0 0 1 0 0 OXA1L 5018 broad.mit.edu 37 14 23235884 23235884 + Missense_Mutation SNP G G A TCGA-69-7763-01A-11D-2167-08 TCGA-69-7763-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8dbe8f2d-38c0-4d35-bb53-d43e759784ee da990b8c-9ccd-4a64-811b-5a6a6177ac99 g.chr14:23235884G>A ENST00000285848.5 + 1 154 c.154G>A c.(154-156)Gca>Aca p.A52T NM_005015.3 NP_005006.3 Q15070 OXA1L_HUMAN oxidase (cytochrome c) assembly 1-like 0 aerobic respiration|mitochondrial proton-transporting ATP synthase complex assembly|mitochondrial respiratory chain complex I assembly|negative regulation of ATPase activity|negative regulation of oxidoreductase activity|protein insertion into membrane|protein tetramerization integral to mitochondrial membrane|mitochondrial respiratory chain|protein complex protein homodimerization activity|ribosome binding central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(5)|skin(2) 19 all_cancers(95;8.44e-05) GBM - Glioblastoma multiforme(265;0.0096) CTGCGCAGGCGCAAAAGCAAG 0.582000 14 124 0 0 1 0 0 MT-ND4 4538 broad.mit.edu 37 MT 11711 11711 + Missense_Mutation SNP G G A TCGA-69-7763-01A-11D-2167-08 TCGA-69-7763-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8dbe8f2d-38c0-4d35-bb53-d43e759784ee da990b8c-9ccd-4a64-811b-5a6a6177ac99 g.chrM:11711G>A ENST00000361381.2 + 1 952 c.952G>A c.(952-954)Gcc>Acc p.318_318insT mitochondrially encoded NADH dehydrogenase 4 breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|prostate(1) 13 TTCTCATAATCGCCCACGGAC 0.483000 9 4 0 0 1 0 0 CPE 1363 broad.mit.edu 37 4 166408697 166408697 + Missense_Mutation SNP A A T TCGA-69-7763-01A-11D-2167-08 TCGA-69-7763-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8dbe8f2d-38c0-4d35-bb53-d43e759784ee da990b8c-9ccd-4a64-811b-5a6a6177ac99 g.chr4:166408697A>T ENST00000402744.4 + 6 1361 c.1081A>T c.(1081-1083)Aac>Tac p.N361Y NM_001873.2 NP_001864.1 P16870 CBPE_HUMAN carboxypeptidase E 361 cardiac left ventricle morphogenesis|neuropeptide signaling pathway|protein modification process extracellular region|nucleus|plasma membrane metallocarboxypeptidase activity|protein binding|zinc ion binding endometrium(2)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 26 all_hematologic(180;0.221) Prostate(90;0.0962)|Melanoma(52;0.18) GBM - Glioblastoma multiforme(119;0.137) Glucagon recombinant(DB00040)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) CTGGGAGGATAACAAAAACTC 0.443000 3 32 0 0 1 0 0 ZNF619 285267 broad.mit.edu 37 3 40528959 40528959 + Nonsense_Mutation SNP G G T TCGA-69-7763-01A-11D-2167-08 TCGA-69-7763-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8dbe8f2d-38c0-4d35-bb53-d43e759784ee da990b8c-9ccd-4a64-811b-5a6a6177ac99 g.chr3:40528959G>T ENST00000447116.2 + 6 1385 c.1078G>T c.(1078-1080)Gaa>Taa p.E360* ZNF619_ENST00000522736.1_Nonsense_Mutation_p.E311*|ZNF619_ENST00000456778.1_Nonsense_Mutation_p.E276*|ZNF619_ENST00000520737.1_3'UTR|ZNF619_ENST00000432264.2_Nonsense_Mutation_p.E320*|ZNF619_ENST00000429348.2_Nonsense_Mutation_p.E320*|ZNF619_ENST00000521353.1_Nonsense_Mutation_p.E360*|ZNF619_ENST00000314686.5_Nonsense_Mutation_p.E304* NM_001145082.2 NP_001138554.1 E9PCD9 E9PCD9_HUMAN zinc finger protein 619 360 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding breast(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 21 KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661) TAAATGTAAGGAATGTGGGAA 0.423000 16 33 5.01169e-05 5.70638e-05 1 1 0 OR4N4 283694 broad.mit.edu 37 15 22383265 22383265 + Missense_Mutation SNP T T A TCGA-69-7763-01A-11D-2167-08 TCGA-69-7763-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8dbe8f2d-38c0-4d35-bb53-d43e759784ee da990b8c-9ccd-4a64-811b-5a6a6177ac99 g.chr15:22383265T>A ENST00000328795.4 + 1 884 c.793T>A c.(793-795)Tta>Ata p.L265I RP11-69H14.6_ENST00000558896.1_RNA NM_001005241.2 NP_001005241.2 Q8N0Y3 OR4N4_HUMAN olfactory receptor, family 4, subfamily N, member 4 265 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 40 all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101) GBM - Glioblastoma multiforme(6;0.124) all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963) TTTCAGGGCCTTACCAGCTGA 0.433000 21 255 0 0 1 0 0 CSRNP2 81566 broad.mit.edu 37 12 51457744 51457744 + Missense_Mutation SNP A A C TCGA-69-7763-01A-11D-2167-08 TCGA-69-7763-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8dbe8f2d-38c0-4d35-bb53-d43e759784ee da990b8c-9ccd-4a64-811b-5a6a6177ac99 g.chr12:51457744A>C ENST00000228515.1 - 5 1714 c.1417T>G c.(1417-1419)Tca>Gca p.S473A NM_030809.2 NP_110436.1 Q9H175 CSRN2_HUMAN cysteine-serine-rich nuclear protein 2 473 apoptosis|positive regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1) 14 CCCACCTCTGATTTACAGAGG 0.527000 23 73 0 0 1 0 0 GPR45 11250 broad.mit.edu 37 2 105858611 105858611 + Missense_Mutation SNP G G A TCGA-69-7763-01A-11D-2167-08 TCGA-69-7763-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8dbe8f2d-38c0-4d35-bb53-d43e759784ee da990b8c-9ccd-4a64-811b-5a6a6177ac99 g.chr2:105858611G>A ENST00000258456.1 + 1 412 c.296G>A c.(295-297)cGc>cAc p.R99H NM_007227.3 NP_009158.3 Q9Y5Y3 GPR45_HUMAN G protein-coupled receptor 45 99 integral to membrane|plasma membrane G-protein coupled receptor activity|protein binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1) 28 ATCACCGTGCGCTGGCACTTT 0.632000 35 138 0 0 1 0 0 DHX57 90957 broad.mit.edu 37 2 39085937 39085937 + Missense_Mutation SNP C C A TCGA-69-7763-01A-11D-2167-08 TCGA-69-7763-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8dbe8f2d-38c0-4d35-bb53-d43e759784ee da990b8c-9ccd-4a64-811b-5a6a6177ac99 g.chr2:39085937C>A ENST00000295373.6 - 6 1579 c.1453G>T c.(1453-1455)Ggt>Tgt p.G485C DHX57_ENST00000479345.2_5'UTR NM_198963.1 NP_945314.1 Q6P158 DHX57_HUMAN DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57 485 ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 62 all_hematologic(82;0.248) GGTGCAGGACCGTCATCCTCA 0.378000 12 31 2.27111e-07 2.74924e-07 1 1 0 LRP2 4036 broad.mit.edu 37 2 170101363 170101363 + Silent SNP G G A TCGA-69-7763-01A-11D-2167-08 TCGA-69-7763-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8dbe8f2d-38c0-4d35-bb53-d43e759784ee da990b8c-9ccd-4a64-811b-5a6a6177ac99 g.chr2:170101363G>A ENST00000263816.3 - 22 3555 c.3270C>T c.(3268-3270)aaC>aaT p.N1090N LRP2_ENST00000443831.1_Silent_p.N953N NM_004525.2 NP_004516.2 P98164 LRP2_HUMAN low density lipoprotein receptor-related protein 2 1090 LDL-receptor class A 9. hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome calcium ion binding|receptor activity|SH3 domain binding biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13) 315 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) CCACACAGTCGTTGCGTTTGT 0.512000 31 134 0 0 1 0 0 MUC5B 727897 broad.mit.edu 37 11 1272788 1272788 + Missense_Mutation SNP C C T TCGA-69-7763-01A-11D-2167-08 TCGA-69-7763-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8dbe8f2d-38c0-4d35-bb53-d43e759784ee da990b8c-9ccd-4a64-811b-5a6a6177ac99 g.chr11:1272788C>T ENST00000447027.1 + 31 14745 c.14687C>T c.(14686-14688)aCg>aTg p.T4896M MUC5B_ENST00000529681.1_Missense_Mutation_p.T4893M Q9HC84 MUC5B_HUMAN mucin 5B, oligomeric mucus/gel-forming 4893 Thr-rich. cell adhesion extracellular region extracellular matrix structural constituent|protein binding cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1) 137 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) ACTGCCTCCACGGTTCCCAGC 0.662000 4 27 0 0 1 0 0 FREM1 158326 broad.mit.edu 37 9 14848737 14848737 + Missense_Mutation SNP C C A TCGA-69-7763-01A-11D-2167-08 TCGA-69-7763-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8dbe8f2d-38c0-4d35-bb53-d43e759784ee da990b8c-9ccd-4a64-811b-5a6a6177ac99 g.chr9:14848737C>A ENST00000380881.4 - 8 2005 c.1190G>T c.(1189-1191)aGg>aTg p.R397M FREM1_ENST00000422223.2_Missense_Mutation_p.R396M|FREM1_ENST00000380880.3_Missense_Mutation_p.R396M Q5H8C1 FREM1_HUMAN FRAS1 related extracellular matrix 1 396 cell communication|multicellular organismal development basement membrane|integral to membrane metal ion binding|sugar binding breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 GBM - Glioblastoma multiforme(50;3.53e-06) AGGTGCACTCCTTTCAAAGAA 0.438000 6 29 8.12818e-05 9.07516e-05 1 1 0 DPF3 8110 broad.mit.edu 37 14 73138002 73138002 + Missense_Mutation SNP C C T TCGA-69-7763-01A-11D-2167-08 TCGA-69-7763-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8dbe8f2d-38c0-4d35-bb53-d43e759784ee da990b8c-9ccd-4a64-811b-5a6a6177ac99 g.chr14:73138002C>T ENST00000541685.1 - 9 928 c.916G>A c.(916-918)Gca>Aca p.A306T DPF3_ENST00000546183.1_Missense_Mutation_p.A316T|DPF3_ENST00000557704.1_5'UTR|DPF3_ENST00000556509.1_Intron NM_012074.3 NP_036206.3 Q92784 DPF3_HUMAN D4, zinc and double PHD fingers, family 3 135 chromatin modification|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nBAF complex nucleic acid binding|zinc ion binding central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1) 22 BRCA - Breast invasive adenocarcinoma(234;0.00649)|OV - Ovarian serous cystadenocarcinoma(108;0.0654) GTACGTGCTGCGGCCGCTGCC 0.502000 6 59 0 0 1 0 0 TMEM123 114908 broad.mit.edu 37 11 102272284 102272284 + Silent SNP A A T TCGA-69-7763-01A-11D-2167-08 TCGA-69-7763-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8dbe8f2d-38c0-4d35-bb53-d43e759784ee da990b8c-9ccd-4a64-811b-5a6a6177ac99 g.chr11:102272284A>T ENST00000398136.2 - 4 1008 c.588T>A c.(586-588)atT>atA p.I196I TMEM123_ENST00000361236.3_Silent_p.I177I|TMEM123_ENST00000532161.1_Silent_p.I108I NM_052932.2 NP_443164.2 Q8N131 PORIM_HUMAN transmembrane protein 123 196 oncosis external side of plasma membrane|integral to membrane receptor activity breast(3)|kidney(1)|large_intestine(1)|lung(3)|urinary_tract(1) 9 all_cancers(8;0.00027)|all_epithelial(12;0.0021)|Lung NSC(15;0.227) Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033) Epithelial(9;0.0314)|Lung(13;0.109)|all cancers(10;0.12)|LUSC - Lung squamous cell carcinoma(19;0.151) BRCA - Breast invasive adenocarcinoma(274;0.0149) TTCGATACCGAATGCCTCTTC 0.348000 3 33 0 0 1 0 0 KCNU1 157855 broad.mit.edu 37 8 36663852 36663852 + Silent SNP C C A TCGA-69-7763-01A-11D-2167-08 TCGA-69-7763-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8dbe8f2d-38c0-4d35-bb53-d43e759784ee da990b8c-9ccd-4a64-811b-5a6a6177ac99 g.chr8:36663852C>A ENST00000399881.3 + 5 571 c.534C>A c.(532-534)acC>acA p.T178T NM_001031836.2 NP_001027006.2 A8MYU2 KCNU1_HUMAN potassium channel, subfamily U, member 1 178 voltage-gated potassium channel complex binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1) 57 KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634) ACATCTTTACCATCCCACCAA 0.353000 3 7 0.115264 0.118351 1 1 0 GLRB 2743 broad.mit.edu 37 4 158060005 158060005 + Missense_Mutation SNP G G T TCGA-69-7763-01A-11D-2167-08 TCGA-69-7763-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8dbe8f2d-38c0-4d35-bb53-d43e759784ee da990b8c-9ccd-4a64-811b-5a6a6177ac99 g.chr4:158060005G>T ENST00000264428.4 + 7 925 c.655G>T c.(655-657)Gat>Tat p.D219Y GLRB_ENST00000541722.1_Missense_Mutation_p.D219Y|GLRB_ENST00000509282.1_Missense_Mutation_p.D219Y|GLRB_ENST00000512619.1_Intron NM_000824.4 NP_000815.1 P48167 GLRB_HUMAN glycine receptor, beta 219 nervous system development|neuropeptide signaling pathway|startle response cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane extracellular-glycine-gated chloride channel activity|protein binding|receptor activity central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(6)|skin(5)|upper_aerodigestive_tract(1) 27 all_hematologic(180;0.24) Renal(120;0.0458) KIRC - Kidney renal clear cell carcinoma(143;0.0564)|COAD - Colon adenocarcinoma(41;0.0642)|Kidney(143;0.0707) Glycine(DB00145) GCAGTCAGGAGATCCTGTGCA 0.284000 8 37 1.58986e-06 1.88489e-06 1 1 0 CPE 1363 broad.mit.edu 37 4 166408698 166408698 + Missense_Mutation SNP A A T TCGA-69-7763-01A-11D-2167-08 TCGA-69-7763-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8dbe8f2d-38c0-4d35-bb53-d43e759784ee da990b8c-9ccd-4a64-811b-5a6a6177ac99 g.chr4:166408698A>T ENST00000402744.4 + 6 1362 c.1082A>T c.(1081-1083)aAc>aTc p.N361I NM_001873.2 NP_001864.1 P16870 CBPE_HUMAN carboxypeptidase E 361 cardiac left ventricle morphogenesis|neuropeptide signaling pathway|protein modification process extracellular region|nucleus|plasma membrane metallocarboxypeptidase activity|protein binding|zinc ion binding endometrium(2)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 26 all_hematologic(180;0.221) Prostate(90;0.0962)|Melanoma(52;0.18) GBM - Glioblastoma multiforme(119;0.137) Glucagon recombinant(DB00040)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) TGGGAGGATAACAAAAACTCC 0.443000 3 31 0 0 1 0 0 INPPL1 3636 broad.mit.edu 37 11 71949338 71949338 + Missense_Mutation SNP G G T TCGA-69-7763-01A-11D-2167-08 TCGA-69-7763-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8dbe8f2d-38c0-4d35-bb53-d43e759784ee da990b8c-9ccd-4a64-811b-5a6a6177ac99 g.chr11:71949338G>T ENST00000541756.1 + 28 3922 c.2992G>T c.(2992-2994)Ggg>Tgg p.G998W INPPL1_ENST00000538751.1_Missense_Mutation_p.G998W|INPPL1_ENST00000298229.2_Missense_Mutation_p.G1240W O15357 SHIP2_HUMAN inositol polyphosphate phosphatase-like 1 1240 Pro-rich. actin filament organization|cell adhesion|endocytosis actin cortical patch|cytosol actin binding|SH2 domain binding|SH3 domain binding breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 44 GGAGGAGGCTGGGGTGCAGGA 0.637000 OREG0021191 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 10 46 2.27111e-07 2.74924e-07 1 1 0 SYNE1 23345 broad.mit.edu 37 6 152623099 152623099 + Silent SNP G G A TCGA-69-7763-01A-11D-2167-08 TCGA-69-7763-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8dbe8f2d-38c0-4d35-bb53-d43e759784ee da990b8c-9ccd-4a64-811b-5a6a6177ac99 g.chr6:152623099G>A ENST00000367255.5 - 92 18047 c.17446C>T c.(17446-17448)Ctg>Ttg p.L5816L SYNE1_ENST00000423061.1_Silent_p.L5745L|SYNE1_ENST00000448038.1_Silent_p.L5745L|SYNE1_ENST00000341594.5_Silent_p.L5428L|SYNE1_ENST00000356820.4_Silent_p.L340L|SYNE1_ENST00000265368.4_Silent_p.L5816L NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 5816 cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) GTCACCGTCAGCAGCATGGTG 0.597000 HNSCC(10;0.0054) 15 28 0 0 1 0 0 CXCR6 10663 broad.mit.edu 37 3 45988860 45988860 + Missense_Mutation SNP G G A rs141955108 TCGA-69-7763-01A-11D-2167-08 TCGA-69-7763-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8dbe8f2d-38c0-4d35-bb53-d43e759784ee da990b8c-9ccd-4a64-811b-5a6a6177ac99 g.chr3:45988860G>A ENST00000458629.1 + 1 2350 c.887G>A c.(886-888)cGa>cAa p.R296Q CXCR6_ENST00000304552.4_Missense_Mutation_p.R296Q|FYCO1_ENST00000296137.2_Intron|CXCR6_ENST00000457814.1_Missense_Mutation_p.R296Q|CXCR6_ENST00000438735.1_Missense_Mutation_p.R296Q|FYCO1_ENST00000438446.1_Intron|FYCO1_ENST00000535325.1_Intron O00574 CXCR6_HUMAN chemokine (C-X-C motif) receptor 6 296 viral genome replication integral to plasma membrane coreceptor activity central_nervous_system(1)|endometrium(1)|kidney(3)|lung(1)|prostate(1)|skin(1) 8 BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203) CTGAAGTTTCGAAAGAACTTC 0.473000 5 39 0 0 1 0 0 SCARF1 8578 broad.mit.edu 37 17 1538814 1538814 + Missense_Mutation SNP C C T TCGA-69-7763-01A-11D-2167-08 TCGA-69-7763-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8dbe8f2d-38c0-4d35-bb53-d43e759784ee da990b8c-9ccd-4a64-811b-5a6a6177ac99 g.chr17:1538814C>T ENST00000571272.1 - 11 1740 c.1694G>A c.(1693-1695)cGc>cAc p.R565H SCARF1_ENST00000263071.4_Silent_p.P577P|SCARF1_ENST00000348987.3_Silent_p.P491P Q14162 SREC_HUMAN scavenger receptor class F, member 1 0 Pro/Ser-rich. cell adhesion|neuron remodeling|positive regulation of axon regeneration|receptor-mediated endocytosis integral to membrane low-density lipoprotein particle binding|scavenger receptor activity cervix(1)|endometrium(3)|kidney(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 UCEC - Uterine corpus endometrioid carcinoma (25;0.0822) TGGAGGTGCGCGGGATGGCGA 0.672000 18 74 0 0 1 0 0 KDR 3791 broad.mit.edu 37 4 55981108 55981108 + Missense_Mutation SNP C C A TCGA-69-7763-01A-11D-2167-08 TCGA-69-7763-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8dbe8f2d-38c0-4d35-bb53-d43e759784ee da990b8c-9ccd-4a64-811b-5a6a6177ac99 g.chr4:55981108C>A ENST00000263923.4 - 5 886 c.591G>T c.(589-591)atG>atT p.M197I NM_002253.2 NP_002244.1 P35968 VGFR2_HUMAN kinase insert domain receptor (a type III receptor tyrosine kinase) 197 Ig-like C2-type 2. angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape integral to plasma membrane ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 135 all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101) Epithelial(7;0.189) Sorafenib(DB00398)|Sunitinib(DB01268) CACAGAAGACCATGCCAGCAT 0.383000 Mis """NSCLC, angiosarcoma""" TSP Lung(20;0.16) 3 27 0.004672 0.00506868 1 1 0 SCAND3 114821 broad.mit.edu 37 6 28542473 28542473 + Missense_Mutation SNP T T G TCGA-69-7763-01A-11D-2167-08 TCGA-69-7763-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8dbe8f2d-38c0-4d35-bb53-d43e759784ee da990b8c-9ccd-4a64-811b-5a6a6177ac99 g.chr6:28542473T>G ENST00000452236.2 - 3 2626 c.2009A>C c.(2008-2010)aAa>aCa p.K670T NM_052923.1 NP_443155.1 Q6R2W3 SCND3_HUMAN SCAN domain containing 3 670 DNA integration|viral reproduction nucleus DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3) 71 CTTTAGCATTTTGGAAGGTTT 0.423000 17 121 0 0 1 0 0 ELP2 55250 broad.mit.edu 37 18 33734899 33734899 + Silent SNP C C T TCGA-69-7763-01A-11D-2167-08 TCGA-69-7763-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8dbe8f2d-38c0-4d35-bb53-d43e759784ee da990b8c-9ccd-4a64-811b-5a6a6177ac99 g.chr18:33734899C>T ENST00000358232.6 + 12 1275 c.1212C>T c.(1210-1212)atC>atT p.I404I ELP2_ENST00000423854.2_Silent_p.I334I|ELP2_ENST00000351393.6_Silent_p.I378I|ELP2_ENST00000542824.1_Silent_p.I334I|ELP2_ENST00000442325.2_Silent_p.I469I|ELP2_ENST00000350494.6_Silent_p.I399I|ELP2_ENST00000542050.1_3'UTR NM_018255.2 NP_060725.1 Q6IA86 ELP2_HUMAN elongator acetyltransferase complex subunit 2 404 regulation of transcription from RNA polymerase II promoter Golgi apparatus|transcription elongation factor complex NS(1)|breast(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|urinary_tract(2) 30 AATTTATTATCACTGTTGGTA 0.388000 7 42 0 0 1 0 0 SPRY3 10251 broad.mit.edu 37 X 155003947 155003947 + Silent SNP G G C TCGA-69-7763-01A-11D-2167-08 TCGA-69-7763-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8dbe8f2d-38c0-4d35-bb53-d43e759784ee da990b8c-9ccd-4a64-811b-5a6a6177ac99 g.chrX:155003947G>C ENST00000302805.2 + 2 845 c.414G>C c.(412-414)ggG>ggC p.G138G NM_005840.1 NP_005831.1 O43610 SPY3_HUMAN sprouty homolog 3 (Drosophila) 138 multicellular organismal development|regulation of signal transduction cytoplasm|membrane p.G138G(1) all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) AATCTGCAGGGCACCCTAGTG 0.607000 17 67 0 0 1 0 0 ZFP82 284406 broad.mit.edu 37 19 36884215 36884215 + Missense_Mutation SNP A A G TCGA-69-7763-01A-11D-2167-08 TCGA-69-7763-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8dbe8f2d-38c0-4d35-bb53-d43e759784ee da990b8c-9ccd-4a64-811b-5a6a6177ac99 g.chr19:36884215A>G ENST00000392161.3 - 5 1269 c.1027T>C c.(1027-1029)Tgc>Cgc p.C343R ZFP82_ENST00000392171.1_Missense_Mutation_p.C343R NM_133466.2 NP_597723.1 Q8N141 ZFP82_HUMAN ZFP82 zinc finger protein 343 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 GCCTTCCCGCATTCCTTACAT 0.423000 9 90 0 0 1 0 0 RP11-344E13.3 0 broad.mit.edu 37 17 20805603 20805603 + RNA SNP G G A TCGA-69-7763-01A-11D-2167-08 TCGA-69-7763-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8dbe8f2d-38c0-4d35-bb53-d43e759784ee da990b8c-9ccd-4a64-811b-5a6a6177ac99 g.chr17:20805603G>A ENST00000577537.1 + 0 787 RP11-344E13.3_ENST00000583962.1_RNA|RP11-344E13.3_ENST00000417232.2_RNA|RP11-344E13.3_ENST00000577860.1_RNA|RP11-344E13.3_ENST00000439794.2_RNA GGCCTTCTACGCCCATTACTG 0.567000 8 69 0 0 1 0 0 EXT2 2132 broad.mit.edu 37 11 44165857 44165857 + Missense_Mutation SNP C C G TCGA-69-7763-01A-11D-2167-08 TCGA-69-7763-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8dbe8f2d-38c0-4d35-bb53-d43e759784ee da990b8c-9ccd-4a64-811b-5a6a6177ac99 g.chr11:44165857C>G ENST00000358681.4 + 8 1400 c.1234C>G c.(1234-1236)Ctg>Gtg p.L412V EXT2_ENST00000533608.1_Intron|EXT2_ENST00000395673.3_Intron|EXT2_ENST00000343631.3_Intron NM_001178083.1 NP_001171554.1 Q93063 EXT2_HUMAN exostosin glycosyltransferase 2 406 glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction Golgi membrane|integral to membrane|intrinsic to endoplasmic reticulum membrane glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|lung(17)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 32 AATGAACTCCCTGATCTGGCC 0.473000 """Mis, N, F, S""" """exostoses, osteosarcoma""" Hereditary Multiple Exostoses 28 98 0 0 1 0 0 UNC5B 219699 broad.mit.edu 37 10 73051404 73051404 + Missense_Mutation SNP G G T TCGA-69-7763-01A-11D-2167-08 TCGA-69-7763-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8dbe8f2d-38c0-4d35-bb53-d43e759784ee da990b8c-9ccd-4a64-811b-5a6a6177ac99 g.chr10:73051404G>T ENST00000335350.6 + 10 1926 c.1510G>T c.(1510-1512)Ggg>Tgg p.G504W UNC5B_ENST00000373192.4_Missense_Mutation_p.G493W NM_170744.4 NP_734465.2 Q8IZJ1 UNC5B_HUMAN unc-5 homolog B (C. elegans) 504 apoptosis|axon guidance|regulation of apoptosis integral to membrane breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4) 49 TGACCTGCTGGGGGTCTTGCC 0.657000 28 85 1.2476e-16 1.63038e-16 1 1 0 ARPC1B 10095 broad.mit.edu 37 7 98984357 98984357 + Silent SNP C C T rs144704984 TCGA-69-7763-01A-11D-2167-08 TCGA-69-7763-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8dbe8f2d-38c0-4d35-bb53-d43e759784ee da990b8c-9ccd-4a64-811b-5a6a6177ac99 g.chr7:98984357C>T ENST00000451682.1 + 5 423 c.114C>T c.(112-114)agC>agT p.S38S ARPC1B_ENST00000252725.5_Silent_p.S38S|ARPC1B_ENST00000474880.1_3'UTR|ARPC1A_ENST00000432884.2_3'UTR O15143 ARC1B_HUMAN actin related protein 2/3 complex, subunit 1B, 41kDa 38 cellular component movement|regulation of actin filament polymerization Arp2/3 protein complex|cytoplasm actin binding|structural constituent of cytoskeleton central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(2)|lung(1) 11 all_cancers(62;3.49e-09)|all_epithelial(64;2.57e-10)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166) STAD - Stomach adenocarcinoma(171;0.215) ATGAAAAGAGCGGTGCCAAAT 0.572000 19 146 0 0 1 0 0 SACS 26278 broad.mit.edu 37 13 23909353 23909353 + Missense_Mutation SNP C C T TCGA-69-7763-01A-11D-2167-08 TCGA-69-7763-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8dbe8f2d-38c0-4d35-bb53-d43e759784ee da990b8c-9ccd-4a64-811b-5a6a6177ac99 g.chr13:23909353C>T ENST00000382298.3 - 10 9250 c.8662G>A c.(8662-8664)Gca>Aca p.A2888T SACS_ENST00000402364.1_Missense_Mutation_p.A2138T|SACS_ENST00000382292.3_Missense_Mutation_p.A2888T NM_014363.4 NP_055178.3 Q9NZJ4 SACS_HUMAN spastic ataxia of Charlevoix-Saguenay (sacsin) 2888 cell death|negative regulation of inclusion body assembly|protein folding axon|cell body fiber|dendrite|mitochondrion|nucleus ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11) 189 all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128) all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189) GAATCCAGTGCAAAGTGGCCA 0.448000 5 22 0 0 1 0 0 ALDH1L1 10840 broad.mit.edu 37 3 125828895 125828895 + Missense_Mutation SNP C C T TCGA-69-7763-01A-11D-2167-08 TCGA-69-7763-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8dbe8f2d-38c0-4d35-bb53-d43e759784ee da990b8c-9ccd-4a64-811b-5a6a6177ac99 g.chr3:125828895C>T ENST00000393434.2 - 20 2588 c.2239G>A c.(2239-2241)Ggg>Agg p.G747R ALDH1L1_ENST00000472186.1_Missense_Mutation_p.G747R|ALDH1L1_ENST00000452905.2_Missense_Mutation_p.G646R|ALDH1L1_ENST00000393431.2_3'UTR|ALDH1L1_ENST00000273450.3_Missense_Mutation_p.G757R NM_012190.3 NP_036322.2 O75891 AL1L1_HUMAN aldehyde dehydrogenase 1 family, member L1 747 Aldehyde dehydrogenase. 10-formyltetrahydrofolate catabolic process|biosynthetic process acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity p.G747R(1) 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) TTCTGCGGCCCGTGGTCGGTG 0.607000 25 45 0 0 1 0 0 ADAMTSL2 9719 broad.mit.edu 37 9 136406041 136406041 + Silent SNP G G T TCGA-69-7763-01A-11D-2167-08 TCGA-69-7763-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8dbe8f2d-38c0-4d35-bb53-d43e759784ee da990b8c-9ccd-4a64-811b-5a6a6177ac99 g.chr9:136406041G>T ENST00000393061.3 + 7 1359 c.927G>T c.(925-927)ctG>ctT p.L309L ADAMTSL2_ENST00000354484.4_Silent_p.L200L|ADAMTSL2_ENST00000393060.1_Silent_p.L200L Q86TH1 ATL2_HUMAN ADAMTS-like 2 200 negative regulation of transforming growth factor beta receptor signaling pathway proteinaceous extracellular matrix metalloendopeptidase activity|protein binding|zinc ion binding kidney(2)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1) 14 OV - Ovarian serous cystadenocarcinoma(145;9.31e-08)|Epithelial(140;6.62e-07)|all cancers(34;7.74e-06) CCCACACACTGGACAAGTGTG 0.672000 6 38 0.0293803 0.0307158 1 1 0 IL18RAP 8807 broad.mit.edu 37 2 103040348 103040348 + Nonsense_Mutation SNP G G T TCGA-69-7763-01A-11D-2167-08 TCGA-69-7763-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8dbe8f2d-38c0-4d35-bb53-d43e759784ee da990b8c-9ccd-4a64-811b-5a6a6177ac99 g.chr2:103040348G>T ENST00000264260.2 + 4 737 c.148G>T c.(148-150)Gag>Tag p.E50* IL18RAP_ENST00000409369.1_Intron NM_003853.2 NP_003844.1 O95256 I18RA_HUMAN interleukin 18 receptor accessory protein 50 cell surface receptor linked signaling pathway|inflammatory response|innate immune response integral to membrane transmembrane receptor activity autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4) 37 TGATTTACCAGAGCCACAGAA 0.403000 4 22 0.150653 0.151975 1 1 0 ZNF354B 117608 broad.mit.edu 37 5 178310482 178310482 + Silent SNP A A G TCGA-69-7763-01A-11D-2167-08 TCGA-69-7763-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8dbe8f2d-38c0-4d35-bb53-d43e759784ee da990b8c-9ccd-4a64-811b-5a6a6177ac99 g.chr5:178310482A>G ENST00000322434.3 + 5 1255 c.1029A>G c.(1027-1029)ggA>ggG p.G343G NM_058230.2 NP_478137.1 Q96LW1 Z354B_HUMAN zinc finger protein 354B 343 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|kidney(2)|large_intestine(7)|liver(2)|lung(2)|ovary(2)|stomach(3)|urinary_tract(1) 21 all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351) all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) CCCTTTCTGGAAGTCAGAAAA 0.398000 11 38 0 0 1 0 0 SCN11A 11280 broad.mit.edu 37 3 38988324 38988324 + Silent SNP A A G TCGA-69-7763-01A-11D-2167-08 TCGA-69-7763-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8dbe8f2d-38c0-4d35-bb53-d43e759784ee da990b8c-9ccd-4a64-811b-5a6a6177ac99 g.chr3:38988324A>G ENST00000302328.3 - 2 540 c.342T>C c.(340-342)ccT>ccC p.P114P SCN11A_ENST00000444237.2_Silent_p.P114P|SCN11A_ENST00000450244.1_Silent_p.P114P|SCN11A_ENST00000456224.3_Silent_p.P114P NM_014139.2 NP_054858.2 Q9UI33 SCNBA_HUMAN sodium channel, voltage-gated, type XI, alpha subunit 114 response to drug voltage-gated sodium channel complex voltage-gated sodium channel activity NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3) 119 Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226) Cocaine(DB00907) TTGAATTGAAAGGCCCAAAAA 0.383000 4 65 0 0 1 0 0 GPATCH8 23131 broad.mit.edu 37 17 42476905 42476905 + Missense_Mutation SNP C C A TCGA-69-7763-01A-11D-2167-08 TCGA-69-7763-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8dbe8f2d-38c0-4d35-bb53-d43e759784ee da990b8c-9ccd-4a64-811b-5a6a6177ac99 g.chr17:42476905C>A ENST00000434000.1 - 9 2588 c.2306G>T c.(2305-2307)aGt>aTt p.S769I GPATCH8_ENST00000591680.1_Missense_Mutation_p.S847I Q9UKJ3 GPTC8_HUMAN G patch domain containing 8 847 intracellular nucleic acid binding|zinc ion binding breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 50 Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.206) GGAATGCTCACTGCCTGAATC 0.552000 31 65 5.45727e-16 7.05153e-16 1 1 0 CLCN4 1183 broad.mit.edu 37 X 10182101 10182101 + Nonsense_Mutation SNP G G T TCGA-69-7763-01A-11D-2167-08 TCGA-69-7763-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8dbe8f2d-38c0-4d35-bb53-d43e759784ee da990b8c-9ccd-4a64-811b-5a6a6177ac99 g.chrX:10182101G>T ENST00000380833.4 + 11 2348 c.1957G>T c.(1957-1959)Gaa>Taa p.E653* CLCN4_ENST00000380829.1_Nonsense_Mutation_p.E622*|CLCN4_ENST00000421085.2_Nonsense_Mutation_p.E559* NM_001256944.1|NM_001830.3 NP_001243873.1|NP_001821.2 P51793 CLCN4_HUMAN chloride channel, voltage-sensitive 4 653 CBS 1. early endosome membrane|integral to membrane|late endosome membrane antiporter activity|ATP binding|voltage-gated chloride channel activity breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 CCAGAGGAGGGAACTGATTCT 0.507000 3 5 0.150653 0.151975 1 1 0 C1orf127 148345 broad.mit.edu 37 1 11008207 11008207 + Missense_Mutation SNP G G A TCGA-69-7763-01A-11D-2167-08 TCGA-69-7763-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8dbe8f2d-38c0-4d35-bb53-d43e759784ee da990b8c-9ccd-4a64-811b-5a6a6177ac99 g.chr1:11008207G>A ENST00000377004.4 - 12 1984 c.1985C>T c.(1984-1986)gCg>gTg p.A662V C1orf127_ENST00000377008.4_Missense_Mutation_p.A495V NM_001170754.1 NP_001164225.1 B7ZLG7 B7ZLG7_HUMAN chromosome 1 open reading frame 127 513 NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(5) 32 Ovarian(185;0.249) Lung NSC(185;0.000226)|all_lung(284;0.000302)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731) STAD - Stomach adenocarcinoma(5;0.0224) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.71e-07)|COAD - Colon adenocarcinoma(227;7.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000305)|Kidney(185;0.000785)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|READ - Rectum adenocarcinoma(331;0.0509) GGCATCCCTCGCTGGCAGGAT 0.647000 13 58 0 0 1 0 0 LAMA1 284217 broad.mit.edu 37 18 6956680 6956680 + Silent SNP G G A rs145856205 TCGA-69-7763-01A-11D-2167-08 TCGA-69-7763-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8dbe8f2d-38c0-4d35-bb53-d43e759784ee da990b8c-9ccd-4a64-811b-5a6a6177ac99 g.chr18:6956680G>A ENST00000389658.3 - 56 8142 c.8049C>T c.(8047-8049)ccC>ccT p.P2683P RP11-781P6.1_ENST00000584722.1_RNA NM_005559.3 NP_005550.2 P25391 LAMA1_HUMAN laminin, alpha 1 2683 axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development extracellular space|laminin-1 complex|laminin-3 complex extracellular matrix structural constituent|receptor binding NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3) 205 Colorectal(10;0.172) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) CCTCTGCATCGGGAGCCAGCT 0.542000 6 48 0 0 1 0 0 ATOH1 474 broad.mit.edu 37 4 94750524 94750524 + Silent SNP C C A rs34477680 TCGA-69-7763-01A-11D-2167-08 TCGA-69-7763-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8dbe8f2d-38c0-4d35-bb53-d43e759784ee da990b8c-9ccd-4a64-811b-5a6a6177ac99 g.chr4:94750524C>A ENST00000306011.3 + 1 483 c.447C>A c.(445-447)tcC>tcA p.S149S NM_005172.1 NP_005163.1 Q92858 ATOH1_HUMAN atonal homolog 1 (Drosophila) 149 transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding transcription factor activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(2)|skin(1)|upper_aerodigestive_tract(1) 11 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;3.57e-07) GGGCCCCTTCCAGCAAACAGG 0.657000 5 34 0.014758 0.0155704 1 1 0 LRP1 4035 broad.mit.edu 37 12 57605790 57605790 + Nonsense_Mutation SNP C C T TCGA-69-7763-01A-11D-2167-08 TCGA-69-7763-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8dbe8f2d-38c0-4d35-bb53-d43e759784ee da990b8c-9ccd-4a64-811b-5a6a6177ac99 g.chr12:57605790C>T ENST00000243077.3 + 87 13805 c.13339C>T c.(13339-13341)Cga>Tga p.R4447* NM_002332.2 NP_002323.2 Q07954 LRP1_HUMAN low density lipoprotein receptor-related protein 1 4447 Interaction with MAFB (By similarity). aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity coated pit|integral to plasma membrane|nucleus apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 184 BRCA - Breast invasive adenocarcinoma(357;0.0103) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031) GTATAAGCGGCGAGTCCAAGG 0.527000 8 84 0 0 1 0 0 SIGLEC12 89858 broad.mit.edu 37 19 51994907 51994907 + Silent SNP G G A TCGA-69-7763-01A-11D-2167-08 TCGA-69-7763-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8dbe8f2d-38c0-4d35-bb53-d43e759784ee da990b8c-9ccd-4a64-811b-5a6a6177ac99 g.chr19:51994907G>A ENST00000291707.3 - 8 1831 c.1776C>T c.(1774-1776)aaC>aaT p.N592N SIGLEC12_ENST00000598614.1_Silent_p.N474N NM_053003.2 NP_443729.1 Q96PQ1 SIG12_HUMAN sialic acid binding Ig-like lectin 12 (gene/pseudogene) 592 cell adhesion integral to membrane sugar binding NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2) 61 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102) ACTTGGGGATGTTGATCTCGG 0.532000 33 116 0 0 1 0 0 ADCY4 196883 broad.mit.edu 37 14 24798353 24798353 + Missense_Mutation SNP G G A TCGA-69-7763-01A-11D-2167-08 TCGA-69-7763-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8dbe8f2d-38c0-4d35-bb53-d43e759784ee da990b8c-9ccd-4a64-811b-5a6a6177ac99 g.chr14:24798353G>A ENST00000310677.4 - 11 1551 c.1438C>T c.(1438-1440)Cgt>Tgt p.R480C ADCY4_ENST00000396747.3_Missense_Mutation_p.R173C|ADCY4_ENST00000554068.2_Missense_Mutation_p.R480C|ADCY4_ENST00000418030.2_Missense_Mutation_p.R480C NM_001198568.1|NM_001198592.1|NM_139247.3 NP_001185497.1|NP_001185521.1|NP_640340.2 Q8NFM4 ADCY4_HUMAN adenylate cyclase 4 480 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport cytoplasm|integral to membrane|plasma membrane adenylate cyclase activity|ATP binding|metal ion binding|protein binding cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 GBM - Glioblastoma multiforme(265;0.0192) TCCAGGTAACGGGTCATCAGC 0.617000 9 55 0 0 1 0 0 LINGO1 84894 broad.mit.edu 37 15 77907402 77907402 + Missense_Mutation SNP C C T TCGA-69-7763-01A-11D-2167-08 TCGA-69-7763-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8dbe8f2d-38c0-4d35-bb53-d43e759784ee da990b8c-9ccd-4a64-811b-5a6a6177ac99 g.chr15:77907402C>T ENST00000355300.6 - 2 1021 c.847G>A c.(847-849)Gtc>Atc p.V283I LINGO1_ENST00000561030.1_Missense_Mutation_p.V277I NM_032808.5 NP_116197.4 Q96FE5 LIGO1_HUMAN leucine rich repeat and Ig domain containing 1 283 negative regulation of axonogenesis|nerve growth factor receptor signaling pathway integral to membrane|plasma membrane breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 31 AGGTGGCGGACGGCCAGGTAG 0.587000 3 57 0 0 1 0 0 ARHGAP25 9938 broad.mit.edu 37 2 69043356 69043356 + Missense_Mutation SNP C C A TCGA-69-7763-01A-11D-2167-08 TCGA-69-7763-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8dbe8f2d-38c0-4d35-bb53-d43e759784ee da990b8c-9ccd-4a64-811b-5a6a6177ac99 g.chr2:69043356C>A ENST00000544262.1 + 7 1014 c.800C>A c.(799-801)tCc>tAc p.S267Y ARHGAP25_ENST00000295381.3_Intron|ARHGAP25_ENST00000409030.3_Intron|ARHGAP25_ENST00000497079.1_Intron|ARHGAP25_ENST00000467265.1_Intron|ARHGAP25_ENST00000409202.3_Intron|ARHGAP25_ENST00000409220.1_Intron P42331 RHG25_HUMAN Rho GTPase activating protein 25 0 Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1) 52 CCCAGGGTCTCCTTGCTGGCA 0.438000 4 20 0.00909568 0.00977573 1 1 0 AQP7 364 broad.mit.edu 37 9 33385614 33385614 + Missense_Mutation SNP A A T rs140995428 by1000genomes TCGA-69-7763-01A-11D-2167-08 TCGA-69-7763-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8dbe8f2d-38c0-4d35-bb53-d43e759784ee da990b8c-9ccd-4a64-811b-5a6a6177ac99 g.chr9:33385614A>T ENST00000541274.1 - 5 830 c.381T>A c.(379-381)agT>agA p.S127R AQP7_ENST00000537089.1_3'UTR|AQP7_ENST00000539936.1_3'UTR|AQP7_ENST00000377425.4_Intron O14520 AQP7_HUMAN aquaporin 7 0 excretion|generation of precursor metabolites and energy cell-cell junction|cytoplasm|integral to plasma membrane glycerol channel activity|water channel activity NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1) 17 LUSC - Lung squamous cell carcinoma(29;0.00788) GBM - Glioblastoma multiforme(74;0.191) CCACAGAAAAACTCAAAGGAA 0.632000 4 79 0 0 1 0 0 TRGV8 6982 broad.mit.edu 37 7 38370493 38370493 + RNA SNP G G T TCGA-69-7763-01A-11D-2167-08 TCGA-69-7763-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8dbe8f2d-38c0-4d35-bb53-d43e759784ee da990b8c-9ccd-4a64-811b-5a6a6177ac99 g.chr7:38370493G>T ENST00000390343.2 - 0 43 CAAAACTCAGGTCCCACTCAA 0.502000 7 11 8.12818e-05 9.07516e-05 1 1 0 PI4K2A 55361 broad.mit.edu 37 10 99400513 99400513 + Missense_Mutation SNP G G A TCGA-69-7763-01A-11D-2167-08 TCGA-69-7763-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8dbe8f2d-38c0-4d35-bb53-d43e759784ee da990b8c-9ccd-4a64-811b-5a6a6177ac99 g.chr10:99400513G>A ENST00000370631.3 + 1 71 c.14G>A c.(13-15)aGc>aAc p.S5N PI4K2A_ENST00000370649.3_Intron|PI4K2A_ENST00000555577.1_Intron NM_018425.2 NP_060895.1 Q9BTU6 P4K2A_HUMAN phosphatidylinositol 4-kinase type 2 alpha 5 phosphatidylinositol biosynthetic process cytoplasm|integral to plasma membrane|membrane raft 1-phosphatidylinositol 4-kinase activity|ATP binding|magnesium ion binding endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(1) 12 Colorectal(252;0.162) Epithelial(162;1.24e-10)|all cancers(201;1.2e-08) GACGAGACGAGCCCACTAGTG 0.736000 6 42 0 0 1 0 0 SLITRK1 114798 broad.mit.edu 37 13 84454780 84454780 + Missense_Mutation SNP G G T TCGA-69-7763-01A-11D-2167-08 TCGA-69-7763-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8dbe8f2d-38c0-4d35-bb53-d43e759784ee da990b8c-9ccd-4a64-811b-5a6a6177ac99 g.chr13:84454780G>T ENST00000377084.2 - 1 1748 c.863C>A c.(862-864)aCt>aAt p.T288N NM_052910.1 NP_443142.1 Q96PX8 SLIK1_HUMAN SLIT and NTRK-like family, member 1 288 integral to membrane NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 80 Medulloblastoma(90;0.18) Breast(118;0.212) GBM - Glioblastoma multiforme(99;0.07) CTTGAAAGGAGTTGGCAGGGG 0.542000 11 43 4.84862e-15 6.12737e-15 1 1 0 TMEM52 339456 broad.mit.edu 37 1 1850628 1850636 + In_Frame_Del DEL AGCGGCAGG AGCGGCAGG - TCGA-69-7763-01A-11D-2167-08 TCGA-69-7763-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8dbe8f2d-38c0-4d35-bb53-d43e759784ee da990b8c-9ccd-4a64-811b-5a6a6177ac99 g.chr1:1850628_1850636delAGCGGCAGG ENST00000310991.3 - 1 76_84 c.69_77delCCTGCCGCT c.(67-78)ctg>ct p.LLPL23del NM_178545.3 NP_848640.1 Q8NDY8 TMM52_HUMAN transmembrane protein 52 23 integral to membrane NS(1)|prostate(1)|stomach(1) 3 all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217) Epithelial(90;1.82e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.75e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199) CACCTgcggcagcggcaggagcggcagga 0.766 4 2 --- --- --- --- ODF2L 57489 broad.mit.edu 37 1 86841994 86841995 + Frame_Shift_Ins INS - - T rs36121011 TCGA-69-7763-01A-11D-2167-08 TCGA-69-7763-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8dbe8f2d-38c0-4d35-bb53-d43e759784ee da990b8c-9ccd-4a64-811b-5a6a6177ac99 g.chr1:86841994_86841995insT ENST00000359242.3 - 8 1012_1013 c.731_732insA c.(730-732)agcfs p.S244fs ODF2L_ENST00000370566.3_Frame_Shift_Ins_p.S244fs|ODF2L_ENST00000294678.2_Frame_Shift_Ins_p.S244fs|ODF2L_ENST00000317336.7_Frame_Shift_Ins_p.S244fs|ODF2L_ENST00000394731.1_Frame_Shift_Ins_p.S113fs|ODF2L_ENST00000370567.1_Frame_Shift_Ins_p.S244fs NM_001007022.2 NP_001007023.2 Q9ULJ1 ODF2L_HUMAN outer dense fiber of sperm tails 2-like 244 centrosome endometrium(2)|kidney(2)|large_intestine(10)|lung(6)|ovary(1)|pancreas(1)|skin(1)|stomach(1) 24 all cancers(265;0.0313)|Epithelial(280;0.0611) CTTTAGATGCCTTTTTTAAAGC 0.347 2 4 --- --- --- --- RBMXL1 494115 broad.mit.edu 37 1 89448604 89448605 + Frame_Shift_Ins INS - - GG TCGA-69-7763-01A-11D-2167-08 TCGA-69-7763-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8dbe8f2d-38c0-4d35-bb53-d43e759784ee da990b8c-9ccd-4a64-811b-5a6a6177ac99 g.chr1:89448604_89448605insGG ENST00000399794.2 - 3 1620_1621 c.905_906insCC c.(904-906)ctcfs p.L302fs CCBL2_ENST00000260508.4_Intron|CCBL2_ENST00000370491.3_Intron|CCBL2_ENST00000370485.2_Intron|CCBL2_ENST00000446900.2_Intron|RBMXL1_ENST00000321792.5_Frame_Shift_Ins_p.L302fs NM_001162536.2 NP_001156008.1 Q96E39 RBMXL_HUMAN RNA binding motif protein, X-linked-like 1 302 Ser-rich. nucleotide binding|RNA binding CACCATAAGATGGCGGGGGCCC 0.475 7 160 --- --- --- --- CCDC13 152206 broad.mit.edu 37 3 42774410 42774410 + Frame_Shift_Del DEL A A - TCGA-69-7763-01A-11D-2167-08 TCGA-69-7763-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8dbe8f2d-38c0-4d35-bb53-d43e759784ee da990b8c-9ccd-4a64-811b-5a6a6177ac99 g.chr3:42774410delA ENST00000310232.6 - 12 1647 c.1564delT c.(1564-1566)ccfs p.S522fs CCDC13-AS1_ENST00000446950.1_RNA|CCDC13-AS1_ENST00000418161.1_RNA NM_144719.3 NP_653320.3 Q8IYE1 CCD13_HUMAN coiled-coil domain containing 13 522 endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1) 25 CTGGGCAGGGAAGGCCTCGTG 0.592 2 4 --- --- --- --- RAD54L2 23132 broad.mit.edu 37 3 51624506 51624508 + In_Frame_Del DEL GAG GAG - TCGA-69-7763-01A-11D-2167-08 TCGA-69-7763-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8dbe8f2d-38c0-4d35-bb53-d43e759784ee da990b8c-9ccd-4a64-811b-5a6a6177ac99 g.chr3:51624506_51624508delGAG ENST00000409535.1 + 2 195_197 c.70_72delGAG c.(70-72)del p.E30del NM_015106.2 NP_055921.2 Q9Y4B4 ARIP4_HUMAN RAD54-like 2 (S. cerevisiae) 30 nucleus ATP binding|DNA binding|helicase activity NS(2)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|liver(2)|lung(9)|ovary(4)|skin(2) 31 BRCA - Breast invasive adenocarcinoma(193;0.000102)|Kidney(197;0.000758)|KIRC - Kidney renal clear cell carcinoma(197;0.000896) ggatgcggaagaggaggaggagg 0.586 2 4 --- --- --- --- LOC285389 285389 broad.mit.edu 37 3 193776374 193776375 + RNA INS - - G TCGA-69-7763-01A-11D-2167-08 TCGA-69-7763-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8dbe8f2d-38c0-4d35-bb53-d43e759784ee da990b8c-9ccd-4a64-811b-5a6a6177ac99 g.chr3:193776374_193776375insG ENST00000432154.1 - 0 214 ggacgggggcaggggggagggg 0.698 2 4 --- --- --- --- MIR1303 100302284 broad.mit.edu 37 5 154065369 154065370 + RNA INS - - T TCGA-69-7763-01A-11D-2167-08 TCGA-69-7763-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8dbe8f2d-38c0-4d35-bb53-d43e759784ee da990b8c-9ccd-4a64-811b-5a6a6177ac99 g.chr5:154065369_154065370insT ENST00000408625.1 + 0 34_35 NR_031638.1 caactctacaaTtttttttttt 0.470 7 18 --- --- --- --- MAS1L 116511 broad.mit.edu 37 6 29455156 29455157 + Frame_Shift_Del DEL AC AC - TCGA-69-7763-01A-11D-2167-08 TCGA-69-7763-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8dbe8f2d-38c0-4d35-bb53-d43e759784ee da990b8c-9ccd-4a64-811b-5a6a6177ac99 g.chr6:29455156_29455157delAC ENST00000377127.3 - 1 581_582 c.523_524delGT c.(523-525)cfs p.V175fs NM_052967.1 NP_443199.1 P35410 MAS1L_HUMAN MAS1 oncogene-like 175 cytoplasm|integral to membrane|nucleus|plasma membrane G-protein coupled receptor activity NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(7)|pancreas(1)|prostate(2)|skin(2) 28 GGGGAAGAGGACACACACACAC 0.495 7 122 --- --- --- --- SMAP1 60682 broad.mit.edu 37 6 71508370 71508370 + Frame_Shift_Del DEL A A - TCGA-69-7763-01A-11D-2167-08 TCGA-69-7763-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8dbe8f2d-38c0-4d35-bb53-d43e759784ee da990b8c-9ccd-4a64-811b-5a6a6177ac99 g.chr6:71508370delA ENST00000370455.3 + 6 754 c.506delA c.(505-507)gafs p.E169fs SMAP1_ENST00000316999.5_Frame_Shift_Del_p.E142fs|SMAP1_ENST00000370452.3_Frame_Shift_Del_p.E142fs NM_001044305.1 NP_001037770.1 Q8IYB5 SMAP1_HUMAN small ArfGAP 1 169 regulation of ARF GTPase activity plasma membrane ARF GTPase activator activity|zinc ion binding p.K145fs*48(1) breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(1) 15 aaagaaaaggaaaaaaaaaag 0.289 2 4 --- --- --- --- LOC442497 442497 broad.mit.edu 37 7 420546 420547 + RNA INS - - G TCGA-69-7763-01A-11D-2167-08 TCGA-69-7763-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8dbe8f2d-38c0-4d35-bb53-d43e759784ee da990b8c-9ccd-4a64-811b-5a6a6177ac99 g.chr7:420546_420547insG ENST00000515213.1 + 0 282 NR_033960.1 gggagggggcagggggacagag 0.718 2 4 --- --- --- --- ERICH1-AS1 619343 broad.mit.edu 37 8 845007 845008 + RNA INS - - G TCGA-69-7763-01A-11D-2167-08 TCGA-69-7763-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8dbe8f2d-38c0-4d35-bb53-d43e759784ee da990b8c-9ccd-4a64-811b-5a6a6177ac99 g.chr8:845007_845008insG ENST00000524139.1 + 0 151 ERICH1-AS1_ENST00000577187.1_RNA|ERICH1-AS1_ENST00000522092.1_RNA|ERICH1-AS1_ENST00000578889.1_RNA ggtggctggcagggcagggtgg 0.698 2 4 --- --- --- --- LOC157273 157273 broad.mit.edu 37 8 9239496 9239497 + RNA DEL TC TC - TCGA-69-7763-01A-11D-2167-08 TCGA-69-7763-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8dbe8f2d-38c0-4d35-bb53-d43e759784ee da990b8c-9ccd-4a64-811b-5a6a6177ac99 g.chr8:9239496_9239497delTC ENST00000521842.1 - 0 294 TTCAAGCCTTTCTCTCTCTCTC 0.465 2 4 --- --- --- --- MMP12 4321 broad.mit.edu 37 11 102738793 102738794 + RNA INS - - T rs35342965 by1000genomes TCGA-69-7763-01A-11D-2167-08 TCGA-69-7763-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8dbe8f2d-38c0-4d35-bb53-d43e759784ee da990b8c-9ccd-4a64-811b-5a6a6177ac99 g.chr11:102738793_102738794insT ENST00000532855.1 - 0 727_728 P39900 MMP12_HUMAN matrix metallopeptidase 12 (macrophage elastase) positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1) 26 all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) BRCA - Breast invasive adenocarcinoma(274;0.014) Acetohydroxamic Acid(DB00551) TGAGGAACAAGTGGTGCCTAAG 0.416 5 3 --- --- --- --- GPR180 160897 broad.mit.edu 37 13 95254184 95254184 + Translation_Start_Site DEL G G - TCGA-69-7763-01A-11D-2167-08 TCGA-69-7763-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8dbe8f2d-38c0-4d35-bb53-d43e759784ee da990b8c-9ccd-4a64-811b-5a6a6177ac99 g.chr13:95254184delG ENST00000376958.4 + 0 28 NM_180989.5 NP_851320.1 Q86V85 GP180_HUMAN G protein-coupled receptor 180 integral to membrane breast(1)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1) 10 all_neural(89;0.0684)|Medulloblastoma(90;0.163) AGACGGGCATGGGGGGGCTGC 0.771 3 3 --- --- --- --- MGA 23269 broad.mit.edu 37 15 42003214 42003220 + Frame_Shift_Del DEL CATTTTA CATTTTA - TCGA-69-7763-01A-11D-2167-08 TCGA-69-7763-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8dbe8f2d-38c0-4d35-bb53-d43e759784ee da990b8c-9ccd-4a64-811b-5a6a6177ac99 g.chr15:42003214_42003220delCATTTTA ENST00000219905.7 + 8 2932_2938 c.2751_2757delCATTTTA c.(2749-2757)tcfs p.SIL917fs MGA_ENST00000566586.1_Frame_Shift_Del_p.SIL917fs|MGA_ENST00000570161.1_Frame_Shift_Del_p.SIL917fs|MGA_ENST00000389936.4_Frame_Shift_Del_p.SIL917fs|MGA_ENST00000545763.1_Frame_Shift_Del_p.SIL917fs NM_001164273.1 NP_001157745.1 Q8IWI9 MGAP_HUMAN MGA, MAX dimerization protein 917 MLL1 complex DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238) OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235) CTTATAAATCCATTTTACCATACCCTG 0.396 9 91 --- --- --- --- C16orf71 146562 broad.mit.edu 37 16 4796953 4796955 + In_Frame_Del DEL GAG GAG - TCGA-69-7763-01A-11D-2167-08 TCGA-69-7763-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8dbe8f2d-38c0-4d35-bb53-d43e759784ee da990b8c-9ccd-4a64-811b-5a6a6177ac99 g.chr16:4796953_4796955delGAG ENST00000299320.5 + 8 1685_1687 c.1207_1209delGAG c.(1207-1209)del p.E409del C16orf71_ENST00000590191.1_In_Frame_Del_p.E426del|RP11-127I20.7_ENST00000588099.1_RNA NM_139170.2 NP_631909.2 Q8IYS4 CP071_HUMAN chromosome 16 open reading frame 71 409 p.E403delE(1) breast(1)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(1) 11 CTCTGACAGTGAGGAGGAGGAGG 0.611 2 4 --- --- --- --- LOC101928766 101928766 broad.mit.edu 37 17 77889491 77889492 + RNA INS - - AGG rs148432167 by1000genomes TCGA-69-7763-01A-11D-2167-08 TCGA-69-7763-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8dbe8f2d-38c0-4d35-bb53-d43e759784ee da990b8c-9ccd-4a64-811b-5a6a6177ac99 g.chr17:77889491_77889492insAGG ENST00000576738.1 - 0 5109 cagagggacgcaggaggaggag 0.649 4 5 --- --- --- --- STK11 6794 broad.mit.edu 37 19 1207090 1207091 + Frame_Shift_Ins INS - - A TCGA-69-7763-01A-11D-2167-08 TCGA-69-7763-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8dbe8f2d-38c0-4d35-bb53-d43e759784ee da990b8c-9ccd-4a64-811b-5a6a6177ac99 g.chr19:1207090_1207091insA ENST00000326873.7 + 1 1351_1352 c.178_179insA c.(178-180)cggfs p.R60fs STK11_ENST00000585748.1_Intron NM_000455.4 NP_000446.1 Q15831 STK11_HUMAN serine/threonine kinase 11 60 Protein kinase. anoikis|cell cycle arrest|energy reserve metabolic process|insulin receptor signaling pathway|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation cytosol|nucleus ATP binding|magnesium ion binding|protein serine/threonine kinase activity p.0?(20)|p.?(3)|p.G56fs*4(1) biliary_tract(1)|breast(3)|cervix(35)|gastrointestinal_tract_(site_indeterminate)(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|liver(1)|lung(219)|oesophagus(1)|ovary(4)|pancreas(6)|prostate(2)|skin(15)|small_intestine(1)|stomach(9)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 328 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18) GGAAGGCTCTTACGGCAAGGTG 0.629 14 """D, Mis, N, F, S""" """NSCLC, pancreatic""" """jejunal harmartoma, ovarian, testicular, pancreatic""" Peutz-Jeghers syndrome TSP Lung(3;<1E-08) 14 32 --- --- --- --- MARK4 57787 broad.mit.edu 37 19 45797646 45797647 + Frame_Shift_Ins INS - - A TCGA-69-7763-01A-11D-2167-08 TCGA-69-7763-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8dbe8f2d-38c0-4d35-bb53-d43e759784ee da990b8c-9ccd-4a64-811b-5a6a6177ac99 g.chr19:45797646_45797647insA ENST00000300843.4 + 14 1831_1832 c.1534_1535insA c.(1534-1536)cgtfs p.R512fs MARK4_ENST00000262891.4_Frame_Shift_Ins_p.R512fs NM_031417.3 NP_113605.2 Q96L34 MARK4_HUMAN MAP/microtubule affinity-regulating kinase 4 512 microtubule bundle formation|nervous system development|positive regulation of programmed cell death centrosome|neuron projection ATP binding|gamma-tubulin binding|microtubule binding|protein serine/threonine kinase activity|tau-protein kinase activity|ubiquitin binding NS(1)|biliary_tract(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 31 all_neural(266;0.224)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.0102) CAGAAACACCTACGTTTGCACA 0.599 12 79 --- --- --- ---