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 KIAA1324 57535 broad.mit.edu 37 1 109716420 109716420 + Missense_Mutation SNP G G A TCGA-D9-A4Z5-01A-11D-A25O-08 TCGA-D9-A4Z5-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx D486B1EB-917D-4F21-8B9D-51D1F962B129 07157C0C-E999-48BF-865E-7AFE56A91202 g.chr1:109716420G>A ENST00000369939.3 + 7 1096 c.913G>A c.(913-915)Gaa>Aaa p.E305K KIAA1324_ENST00000529753.1_Intron NM_020775.4 NP_065826.2 Q6UXG2 K1324_HUMAN KIAA1324 305 macroautophagy|positive regulation of vacuole organization|regulation of apoptosis integral to plasma membrane NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 34 all_epithelial(167;0.000102)|all_lung(203;0.000323)|Lung NSC(277;0.00063) Colorectal(144;0.0188)|Lung(183;0.0527)|COAD - Colon adenocarcinoma(174;0.14)|Epithelial(280;0.21)|all cancers(265;0.249) AAATAAAGGAGAAACTTCTTG 0.478000 7 36 0 0 1 0 0 BTN2A3P 54718 broad.mit.edu 37 6 26422353 26422353 + RNA SNP C C T rs141013110 TCGA-D9-A4Z5-01A-11D-A25O-08 TCGA-D9-A4Z5-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx D486B1EB-917D-4F21-8B9D-51D1F962B129 07157C0C-E999-48BF-865E-7AFE56A91202 g.chr6:26422353C>T ENST00000466808.2 + 0 7 p.P3S(2) GCTCATGGAACCAGCTGCTGC 0.622000 4 96 0 0 1 0 0 EML2 24139 broad.mit.edu 37 19 46124878 46124878 + Missense_Mutation SNP G G C TCGA-D9-A4Z5-01A-11D-A25O-08 TCGA-D9-A4Z5-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx D486B1EB-917D-4F21-8B9D-51D1F962B129 07157C0C-E999-48BF-865E-7AFE56A91202 g.chr19:46124878G>C ENST00000536630.1 - 13 1438 c.1300C>G c.(1300-1302)Cag>Gag p.Q434E EML2_ENST00000245925.3_Missense_Mutation_p.Q287E|EML2_ENST00000586902.1_5'UTR|EML2_ENST00000587152.1_Missense_Mutation_p.Q488E|EML2_ENST00000589876.1_Missense_Mutation_p.Q287E NM_001193269.1 NP_001180198.1 O95834 EMAL2_HUMAN echinoderm microtubule associated protein like 2 287 sensory perception of sound|visual perception cytoplasm|intracellular membrane-bounded organelle|microtubule|microtubule associated complex catalytic activity|protein binding NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|urinary_tract(1) 31 Ovarian(192;0.179)|all_neural(266;0.224) OV - Ovarian serous cystadenocarcinoma(262;0.00553)|GBM - Glioblastoma multiforme(486;0.131)|Epithelial(262;0.197) AGCACCGCCTGTGTGATACGG 0.667000 8 6 0 0 1 0 0 SAAL1 113174 broad.mit.edu 37 11 18110965 18110965 + Missense_Mutation SNP G G T TCGA-D9-A4Z5-01A-11D-A25O-08 TCGA-D9-A4Z5-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx D486B1EB-917D-4F21-8B9D-51D1F962B129 07157C0C-E999-48BF-865E-7AFE56A91202 g.chr11:18110965G>T ENST00000524803.1 - 7 731 c.682C>A c.(682-684)Cag>Aag p.Q228K SAAL1_ENST00000533851.1_5'UTR|SAAL1_ENST00000300013.4_Missense_Mutation_p.Q228K|SAAL1_ENST00000529318.1_Missense_Mutation_p.Q228K Q96ER3 SAAL1_HUMAN serum amyloid A-like 1 228 acute-phase response extracellular region binding breast(2)|large_intestine(5)|lung(8) 15 TCCAGAGGCTGAGCAGCCCCA 0.512000 19 39 0.000958276 0.00106695 1 1 0 PAF1 54623 broad.mit.edu 37 19 39877178 39877178 + Missense_Mutation SNP G G A TCGA-D9-A4Z5-01A-11D-A25O-08 TCGA-D9-A4Z5-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx D486B1EB-917D-4F21-8B9D-51D1F962B129 07157C0C-E999-48BF-865E-7AFE56A91202 g.chr19:39877178G>A ENST00000221265.3 - 13 1457 c.1127C>T c.(1126-1128)cCg>cTg p.P376L PAF1_ENST00000221266.7_Missense_Mutation_p.P343L|PAF1_ENST00000595564.1_Missense_Mutation_p.P366L NM_019088.3 NP_061961.2 Q8N7H5 PAF1_HUMAN Paf1, RNA polymerase II associated factor, homolog (S. cerevisiae) 376 Glu-rich. histone H2B ubiquitination|histone monoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent Cdc73/Paf1 complex protein binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|urinary_tract(2) 17 all_cancers(60;9.14e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.88e-06)|Ovarian(47;0.0512) Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199) ttcctcctccGGTTCGTGGTT 0.572000 10 21 0 0 1 0 0 COL4A1 1282 broad.mit.edu 37 13 110817227 110817227 + Missense_Mutation SNP C C T TCGA-D9-A4Z5-01A-11D-A25O-08 TCGA-D9-A4Z5-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx D486B1EB-917D-4F21-8B9D-51D1F962B129 07157C0C-E999-48BF-865E-7AFE56A91202 g.chr13:110817227C>T ENST00000375820.4 - 46 4253 c.4132G>A c.(4132-4134)Ggc>Agc p.G1378S NM_001845.4 NP_001836.2 P02462 CO4A1_HUMAN collagen, type IV, alpha 1 1378 Triple-helical region. angiogenesis|axon guidance extracellular matrix structural constituent|platelet-derived growth factor binding breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 105 all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604) Breast(118;0.2) BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145) CCTTTCGGGCCTGGCAGTCCC 0.642000 4 10 0 0 1 0 0 RP1 6101 broad.mit.edu 37 8 55534084 55534084 + Missense_Mutation SNP C C A TCGA-D9-A4Z5-01A-11D-A25O-08 TCGA-D9-A4Z5-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx D486B1EB-917D-4F21-8B9D-51D1F962B129 07157C0C-E999-48BF-865E-7AFE56A91202 g.chr8:55534084C>A ENST00000220676.1 + 2 706 c.558C>A c.(556-558)caC>caA p.H186Q NM_006269.1 NP_006260.1 P56715 RP1_HUMAN retinitis pigmentosa 1 (autosomal dominant) 186 Doublecortin 2. axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2) 169 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) TTCTACAGCACCTGACAGAGG 0.602000 66 158 6.8682e-38 9.76007e-38 1 1 0 PTPRB 5787 broad.mit.edu 37 12 70956768 70956768 + Missense_Mutation SNP C C A TCGA-D9-A4Z5-01A-11D-A25O-08 TCGA-D9-A4Z5-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx D486B1EB-917D-4F21-8B9D-51D1F962B129 07157C0C-E999-48BF-865E-7AFE56A91202 g.chr12:70956768C>A ENST00000334414.6 - 16 4068 c.4024G>T c.(4024-4026)Ggg>Tgg p.G1342W PTPRB_ENST00000538708.1_Missense_Mutation_p.G1034W|PTPRB_ENST00000261266.5_Missense_Mutation_p.G1124W|PTPRB_ENST00000451516.2_Missense_Mutation_p.G1034W|PTPRB_ENST00000550358.1_Missense_Mutation_p.G1254W|PTPRB_ENST00000550857.1_Missense_Mutation_p.G1034W|PTPRB_ENST00000551525.1_Missense_Mutation_p.G1341W NM_001109754.2 NP_001103224.1 P23467 PTPRB_HUMAN protein tyrosine phosphatase, receptor type, B 1124 Fibronectin type-III 15. angiogenesis integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3) 107 Renal(347;0.236) GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149) TGGAGATTCCCATCTGGGTTG 0.512000 6 27 0.00198382 0.00216417 1 1 0 TMEM190 147744 broad.mit.edu 37 19 55889022 55889022 + Silent SNP C C A TCGA-D9-A4Z5-01A-11D-A25O-08 TCGA-D9-A4Z5-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx D486B1EB-917D-4F21-8B9D-51D1F962B129 07157C0C-E999-48BF-865E-7AFE56A91202 g.chr19:55889022C>A ENST00000291934.3 + 3 174 c.156C>A c.(154-156)ccC>ccA p.P52P CTD-2105E13.15_ENST00000595064.1_RNA NM_139172.1 NP_631911.1 Q8WZ59 TM190_HUMAN transmembrane protein 190 52 P-type. integral to membrane large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1) 5 Breast(117;0.191) BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.044) TCGATAGCCCCAACCTCTGCC 0.672000 30 153 7.26314e-15 1.00567e-14 1 1 0 FBP2 8789 broad.mit.edu 37 9 97356004 97356004 + Missense_Mutation SNP G G A TCGA-D9-A4Z5-01A-11D-A25O-08 TCGA-D9-A4Z5-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx D486B1EB-917D-4F21-8B9D-51D1F962B129 07157C0C-E999-48BF-865E-7AFE56A91202 g.chr9:97356004G>A ENST00000375337.3 - 1 71 c.5C>T c.(4-6)aCg>aTg p.T2M NM_003837.2 NP_003828.2 O00757 F16P2_HUMAN fructose-1,6-bisphosphatase 2 2 fructose metabolic process|gluconeogenesis cytosol fructose 1,6-bisphosphate 1-phosphatase activity|fructose-2,6-bisphosphate 2-phosphatase activity|metal ion binding endometrium(1)|large_intestine(3)|lung(5) 9 Acute lymphoblastic leukemia(62;0.136) GCTTCTGTCCGTCATTTTGGC 0.552000 3 43 0 0 1 0 0 CTSG 1511 broad.mit.edu 37 14 25043609 25043609 + Missense_Mutation SNP C C T TCGA-D9-A4Z5-01A-11D-A25O-08 TCGA-D9-A4Z5-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx D486B1EB-917D-4F21-8B9D-51D1F962B129 07157C0C-E999-48BF-865E-7AFE56A91202 g.chr14:25043609C>T ENST00000216336.2 - 4 472 c.436G>A c.(436-438)Ggc>Agc p.G146S NM_001911.2 NP_001902.1 P08311 CATG_HUMAN cathepsin G 146 Peptidase S1. immune response|proteolysis cell surface|extracellular space|plasma membrane|stored secretory granule heparin binding|serine-type endopeptidase activity autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)|urinary_tract(1) 25 GBM - Glioblastoma multiforme(265;0.0269) CTGCCCCAGCCGGCCACAGTG 0.612000 25 118 0 0 1 0 0 GOLGA2P9 440518 broad.mit.edu 37 19 22785310 22785310 + RNA SNP A A G TCGA-D9-A4Z5-01A-11D-A25O-08 TCGA-D9-A4Z5-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx D486B1EB-917D-4F21-8B9D-51D1F962B129 07157C0C-E999-48BF-865E-7AFE56A91202 g.chr19:22785310A>G ENST00000600260.1 + 0 1486 NR_033899.1 GCCATGGAGAAACTGCAGGTG 0.627000 10 5 0 0 1 0 0 ZNF229 7772 broad.mit.edu 37 19 44933207 44933207 + Silent SNP C C T TCGA-D9-A4Z5-01A-11D-A25O-08 TCGA-D9-A4Z5-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx D486B1EB-917D-4F21-8B9D-51D1F962B129 07157C0C-E999-48BF-865E-7AFE56A91202 g.chr19:44933207C>T ENST00000291187.4 - 6 2053 c.1731G>A c.(1729-1731)cgG>cgA p.R577R ZNF229_ENST00000591289.1_Intron|CTC-512J12.4_ENST00000588655.1_RNA|ZNF229_ENST00000588931.1_Silent_p.R583R NM_001278510.1 NP_001265439.1 Q9UJW7 ZN229_HUMAN zinc finger protein 229 583 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1) 45 Prostate(69;0.0352) GGTCTGAATTCCGCCGGAAGC 0.572000 31 19 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453987 140453987 + Splice_Site SNP T T G TCGA-D9-A4Z5-01A-11D-A25O-08 TCGA-D9-A4Z5-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx D486B1EB-917D-4F21-8B9D-51D1F962B129 07157C0C-E999-48BF-865E-7AFE56A91202 g.chr7:140453987T>G ENST00000288602.6 - 14 1801 c.1741_splice c.e14+1 p.N581_splice NM_004333.4 NP_004324.2 P15056 BRAF_HUMAN v-raf murine sarcoma viral oncogene homolog B 581 Protein kinase. N -> D (in CFC syndrome).|N -> S (in a colorectal adenocarcinoma sample; somatic mutation). activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2) NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3) 27380 Melanoma(164;0.00956) Sorafenib(DB00398) GGAAGGATACTATTACTCTTG 0.373000 61 """Mis, T, O""" """AKAP9, KIAA1549""" """melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma""" Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 31 30 0 0 1 0 0 TRIP11 9321 broad.mit.edu 37 14 92471145 92471145 + Missense_Mutation SNP G G C TCGA-D9-A4Z5-01A-11D-A25O-08 TCGA-D9-A4Z5-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx D486B1EB-917D-4F21-8B9D-51D1F962B129 07157C0C-E999-48BF-865E-7AFE56A91202 g.chr14:92471145G>C ENST00000267622.4 - 11 3548 c.3175C>G c.(3175-3177)Cag>Gag p.Q1059E NM_004239.3 NP_004230.2 Q15643 TRIPB_HUMAN thyroid hormone receptor interactor 11 1059 transcription from RNA polymerase II promoter cytoskeleton|Golgi apparatus|membrane|nucleus protein binding|transcription coactivator activity breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 58 COAD - Colon adenocarcinoma(157;0.223) TGAATAATCTGAGTTAGTTTA 0.338000 T PDGFRB AML 8 39 0 0 1 0 0 XKR6 286046 broad.mit.edu 37 8 10755649 10755649 + Missense_Mutation SNP G G T TCGA-D9-A4Z5-01A-11D-A25O-08 TCGA-D9-A4Z5-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx D486B1EB-917D-4F21-8B9D-51D1F962B129 07157C0C-E999-48BF-865E-7AFE56A91202 g.chr8:10755649G>T ENST00000416569.2 - 3 1765 c.1739C>A c.(1738-1740)cCa>cAa p.P580Q XKR6_ENST00000304437.2_Missense_Mutation_p.P301Q NM_173683.3 NP_775954.2 Q5GH73 XKR6_HUMAN XK, Kell blood group complex subunit-related family, member 6 580 integral to membrane breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(8)|ovary(2)|prostate(1)|skin(3) 31 Lung(29;0.0407)|COAD - Colon adenocarcinoma(149;0.0555) GGGCCCTTCTGGGAGGTAAGG 0.522000 3 21 0.004672 0.00504576 1 1 0 MICB 4277 broad.mit.edu 37 6 31474904 31474904 + Missense_Mutation SNP G G A TCGA-D9-A4Z5-01A-11D-A25O-08 TCGA-D9-A4Z5-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx D486B1EB-917D-4F21-8B9D-51D1F962B129 07157C0C-E999-48BF-865E-7AFE56A91202 g.chr6:31474904G>A ENST00000252229.6 + 4 798 c.719G>A c.(718-720)cGt>cAt p.R240H MICB_ENST00000538442.1_Missense_Mutation_p.R208H|MICB_ENST00000399150.3_Missense_Mutation_p.R197H NM_005931.3 NP_005922.2 Q29980 MICB_HUMAN MHC class I polypeptide-related sequence B 240 Ig-like C1-type. antigen processing and presentation|cytolysis|gamma-delta T cell activation|immune response|immune response-activating cell surface receptor signaling pathway|interspecies interaction between organisms|negative regulation of defense response to virus by host|response to heat|response to oxidative stress|response to retinoic acid integral to plasma membrane|MHC class I protein complex natural killer cell lectin-like receptor binding NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1) 13 CTGACCTGGCGTCAGGATGGG 0.582000 22 31 0 0 1 0 0 CYP2S1 29785 broad.mit.edu 37 19 41700534 41700534 + Missense_Mutation SNP G G T TCGA-D9-A4Z5-01A-11D-A25O-08 TCGA-D9-A4Z5-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx D486B1EB-917D-4F21-8B9D-51D1F962B129 07157C0C-E999-48BF-865E-7AFE56A91202 g.chr19:41700534G>T ENST00000310054.4 + 2 479 c.263G>T c.(262-264)cGg>cTg p.R88L CYP2S1_ENST00000542619.1_5'UTR NM_030622.6 NP_085125.1 Q96SQ9 CP2S1_HUMAN cytochrome P450, family 2, subfamily S, polypeptide 1 88 xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(2) 14 GAGGCTGTGCGGGAGGCCCTG 0.632000 15 27 1.49906e-05 1.74084e-05 1 1 0 EPHA8 2046 broad.mit.edu 37 1 22922632 22922632 + Silent SNP G G T rs144628022 TCGA-D9-A4Z5-01A-11D-A25O-08 TCGA-D9-A4Z5-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx D486B1EB-917D-4F21-8B9D-51D1F962B129 07157C0C-E999-48BF-865E-7AFE56A91202 g.chr1:22922632G>T ENST00000166244.3 + 9 1803 c.1731G>T c.(1729-1731)tcG>tcT p.S577S NM_020526.3 NP_065387.1 P29322 EPHA8_HUMAN EPH receptor A8 577 integral to plasma membrane ATP binding|ephrin receptor activity breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 61 Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199) TCCAGGACTCGGACGAGGAGA 0.667000 12 22 5.50884e-06 6.76085e-06 1 1 0 KCNJ4 3761 broad.mit.edu 37 22 38823055 38823055 + Silent SNP C C A TCGA-D9-A4Z5-01A-11D-A25O-08 TCGA-D9-A4Z5-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx D486B1EB-917D-4F21-8B9D-51D1F962B129 07157C0C-E999-48BF-865E-7AFE56A91202 g.chr22:38823055C>A ENST00000303592.3 - 2 1341 c.1083G>T c.(1081-1083)ctG>ctT p.L361L RP3-434P1.6_ENST00000433230.1_RNA NM_004981.1|NM_152868.2 NP_004972.1|NP_690607.1 P48050 IRK4_HUMAN potassium inwardly-rectifying channel, subfamily J, member 4 361 synaptic transmission basolateral plasma membrane|voltage-gated potassium channel complex inward rectifier potassium channel activity|PDZ domain binding endometrium(7)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 23 Melanoma(58;0.0286) GTGGGGCGGGCAGCACGGTGA 0.642000 6 62 0.0293803 0.0305104 1 1 0 TRIP11 9321 broad.mit.edu 37 14 92471090 92471090 + Missense_Mutation SNP G G A TCGA-D9-A4Z5-01A-11D-A25O-08 TCGA-D9-A4Z5-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx D486B1EB-917D-4F21-8B9D-51D1F962B129 07157C0C-E999-48BF-865E-7AFE56A91202 g.chr14:92471090G>A ENST00000267622.4 - 11 3603 c.3230C>T c.(3229-3231)tCa>tTa p.S1077L NM_004239.3 NP_004230.2 Q15643 TRIPB_HUMAN thyroid hormone receptor interactor 11 1077 transcription from RNA polymerase II promoter cytoskeleton|Golgi apparatus|membrane|nucleus protein binding|transcription coactivator activity breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 58 COAD - Colon adenocarcinoma(157;0.223) ATGGGAAGTTGAAGAAATTCT 0.368000 T PDGFRB AML 12 47 0 0 1 0 0 MAGI2 9863 broad.mit.edu 37 7 77885617 77885617 + Silent SNP G G T rs139352828 TCGA-D9-A4Z5-01A-11D-A25O-08 TCGA-D9-A4Z5-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx D486B1EB-917D-4F21-8B9D-51D1F962B129 07157C0C-E999-48BF-865E-7AFE56A91202 g.chr7:77885617G>T ENST00000354212.4 - 10 1943 c.1690C>A c.(1690-1692)Cgg>Agg p.R564R MAGI2_ENST00000536571.1_Silent_p.R396R|MAGI2_ENST00000535697.1_Silent_p.R401R|MAGI2_ENST00000419488.1_Silent_p.R564R|MAGI2_ENST00000522391.1_Silent_p.R564R NM_012301.3 NP_036433.2 Q86UL8 MAGI2_HUMAN membrane associated guanylate kinase, WW and PDZ domain containing 2 564 cell junction|synapse|synaptosome phosphatase binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3) 84 all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236) TGAGGCGGCCGATCTGTTATA 0.502000 6 35 0.0293803 0.0305104 1 1 0 THSD7A 221981 broad.mit.edu 37 7 11485803 11485803 + Silent SNP C C A TCGA-D9-A4Z5-01A-11D-A25O-08 TCGA-D9-A4Z5-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx D486B1EB-917D-4F21-8B9D-51D1F962B129 07157C0C-E999-48BF-865E-7AFE56A91202 g.chr7:11485803C>A ENST00000423059.3 - 13 3200 c.2949G>T c.(2947-2949)ctG>ctT p.L983L AC004538.3_ENST00000445839.1_RNA NM_015204.2 NP_056019.1 Q9UPZ6 THS7A_HUMAN thrombospondin, type I, domain containing 7A 983 TSP type-1 10. integral to membrane NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11) 113 UCEC - Uterine corpus endometrioid carcinoma (126;0.163) CTTTCATTCCCAGCAACACTT 0.433000 HNSCC(18;0.044) 4 86 1.23904e-05 1.45453e-05 1 1 0 TEKT5 146279 broad.mit.edu 37 16 10770001 10770001 + Missense_Mutation SNP C C T TCGA-D9-A4Z5-01A-11D-A25O-08 TCGA-D9-A4Z5-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx D486B1EB-917D-4F21-8B9D-51D1F962B129 07157C0C-E999-48BF-865E-7AFE56A91202 g.chr16:10770001C>T ENST00000283025.2 - 5 972 c.901G>A c.(901-903)Gac>Aac p.D301N NM_144674.1 NP_653275.1 Q96M29 TEKT5_HUMAN tektin 5 301 microtubule cytoskeleton organization cilium axoneme|flagellar axoneme|microtubule breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4) 34 TTGATGTTGTCGTTACTGAAC 0.552000 6 27 0 0 1 0 0 LILRA1 11024 broad.mit.edu 37 19 55106687 55106687 + Missense_Mutation SNP G G A TCGA-D9-A4Z5-01A-11D-A25O-08 TCGA-D9-A4Z5-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx D486B1EB-917D-4F21-8B9D-51D1F962B129 07157C0C-E999-48BF-865E-7AFE56A91202 g.chr19:55106687G>A ENST00000453777.1 + 5 651 c.481G>A c.(481-483)Gaa>Aaa p.E161K LILRA1_ENST00000473156.1_3'UTR|LILRB1_ENST00000396321.2_Intron|LILRA1_ENST00000251372.3_Missense_Mutation_p.E161K|LILRB1_ENST00000448689.1_Intron|LILRB1_ENST00000418536.2_Intron NM_001278318.1 NP_001265247.1 O75019 LIRA1_HUMAN leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1 161 Ig-like C2-type 2. cell surface receptor linked signaling pathway|defense response|regulation of immune response integral to membrane|plasma membrane antigen binding|transmembrane receptor activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1) 47 GBM - Glioblastoma multiforme(193;0.0348) TAAGGAAGGAGAAGATGAACA 0.592000 94 67 0 0 1 0 0 BAG6 7917 broad.mit.edu 37 6 31606981 31606981 + Missense_Mutation SNP C C T TCGA-D9-A4Z5-01A-11D-A25O-08 TCGA-D9-A4Z5-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx D486B1EB-917D-4F21-8B9D-51D1F962B129 07157C0C-E999-48BF-865E-7AFE56A91202 g.chr6:31606981C>T ENST00000404765.2 - 26 3705 c.3416G>A c.(3415-3417)cGa>cAa p.R1139Q BAG6_ENST00000362049.6_Missense_Mutation_p.R1054Q|BAG6_ENST00000439687.2_Missense_Mutation_p.R880Q|BAG6_ENST00000375976.4_Missense_Mutation_p.R1103Q|BAG6_ENST00000211379.5_Missense_Mutation_p.R1103Q|BAG6_ENST00000375964.6_Missense_Mutation_p.R1109Q P46379 BAG6_HUMAN BCL2-associated athanogene 6 1109 apoptosis in response to endoplasmic reticulum stress|brain development|cell differentiation|chromatin modification|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|embryo development|internal peptidyl-lysine acetylation|kidney development|lung development|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|protein stabilization|spermatogenesis|synaptonemal complex assembly|tail-anchored membrane protein insertion into ER membrane|transport|ubiquitin-dependent protein catabolic process BAT3 complex|nucleus polyubiquitin binding|proteasome binding|ribosome binding breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(2)|pancreas(2)|skin(3)|urinary_tract(2) 36 TTCCTGCAGTCGTTTTTGTAT 0.532000 10 12 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179615995 179615995 + Missense_Mutation SNP G G A TCGA-D9-A4Z5-01A-11D-A25O-08 TCGA-D9-A4Z5-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx D486B1EB-917D-4F21-8B9D-51D1F962B129 07157C0C-E999-48BF-865E-7AFE56A91202 g.chr2:179615995G>A ENST00000360870.5 - 46 11354 c.11132C>T c.(11131-11133)aCa>aTa p.T3711I TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000591111.1_Intron|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000460472.2_Intron NM_133379.3 NP_596870.2 Q8WZ42 TITIN_HUMAN titin 9557 Ig-like 22. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CTCCATTAATGTTTTTCTAGC 0.353000 17 49 0 0 1 0 0 PFKL 5211 broad.mit.edu 37 21 45742035 45742035 + Missense_Mutation SNP A A G TCGA-D9-A4Z5-01A-11D-A25O-08 TCGA-D9-A4Z5-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx D486B1EB-917D-4F21-8B9D-51D1F962B129 07157C0C-E999-48BF-865E-7AFE56A91202 g.chr21:45742035A>G ENST00000403390.1 + 15 1499 c.1499A>G c.(1498-1500)cAc>cGc p.H500R PFKL_ENST00000349048.4_Missense_Mutation_p.H453R P17858 K6PL_HUMAN phosphofructokinase, liver 453 fructose 6-phosphate metabolic process|glycolysis|protein oligomerization 6-phosphofructokinase complex 6-phosphofructokinase activity|ATP binding|fructose-6-phosphate binding|identical protein binding|kinase binding|metal ion binding cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 23 Colorectal(79;0.0811) GTAGGCTGGCACGACGTGGCC 0.701000 34 24 0 0 1 0 0 TUBB8P7 197331 broad.mit.edu 37 16 90162513 90162513 + RNA SNP T T C TCGA-D9-A4Z5-01A-11D-A25O-08 TCGA-D9-A4Z5-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx D486B1EB-917D-4F21-8B9D-51D1F962B129 07157C0C-E999-48BF-865E-7AFE56A91202 g.chr16:90162513T>C ENST00000564451.1 + 0 1866 TUBB8P7_ENST00000567960.1_RNA p.N415N(2) GCAACATGAATGACCTGGTGT 0.537000 5 47 0 0 1 0 0 CARD11 84433 broad.mit.edu 37 7 2962795 2962795 + Missense_Mutation SNP C C A rs146070546 TCGA-D9-A4Z5-01A-11D-A25O-08 TCGA-D9-A4Z5-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx D486B1EB-917D-4F21-8B9D-51D1F962B129 07157C0C-E999-48BF-865E-7AFE56A91202 g.chr7:2962795C>A ENST00000396946.4 - 16 2516 c.2113G>T c.(2113-2115)Ggc>Tgc p.G705C NM_032415.4 NP_115791.3 Q9BXL7 CAR11_HUMAN caspase recruitment domain family, member 11 705 PDZ. positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway cytosol|membrane raft|plasma membrane CARD domain binding|guanylate kinase activity NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2) 150 Ovarian(82;0.0115) OV - Ovarian serous cystadenocarcinoma(56;8.44e-14) TCACGGAGGCCGGCTTTCTCG 0.652000 Mis DLBCL 3 37 2.56e-06 3.21488e-06 1 1 0 ZNF733P 643955 broad.mit.edu 37 7 62752318 62752318 + RNA SNP T T C rs139668717 by1000genomes TCGA-D9-A4Z5-01A-11D-A25O-08 TCGA-D9-A4Z5-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx D486B1EB-917D-4F21-8B9D-51D1F962B129 07157C0C-E999-48BF-865E-7AFE56A91202 g.chr7:62752318T>C ENST00000331425.6 - 0 1117 NR_003952.1 ACATTCTTCATATGTGTAGGG 0.433000 3 20 0 0 1 0 0 MAP3K7 6885 broad.mit.edu 37 6 91226264 91226264 + Missense_Mutation SNP C C T TCGA-D9-A4Z5-01A-11D-A25O-08 TCGA-D9-A4Z5-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx D486B1EB-917D-4F21-8B9D-51D1F962B129 07157C0C-E999-48BF-865E-7AFE56A91202 g.chr6:91226264C>T ENST00000369329.3 - 17 1938 c.1777G>A c.(1777-1779)Gag>Aag p.E593K MAP3K7_ENST00000369320.1_Missense_Mutation_p.E247K|MAP3K7_ENST00000369325.3_3'UTR|MAP3K7_ENST00000369332.3_Missense_Mutation_p.E566K|MAP3K7_ENST00000479630.1_5'UTR|MAP3K7_ENST00000369327.3_3'UTR NM_145331.2 NP_663304.1 O43318 M3K7_HUMAN mitogen-activated protein kinase kinase kinase 7 593 activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|histone H3 acetylation|I-kappaB phosphorylation|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transforming growth factor beta receptor signaling pathway Ada2/Gcn5/Ada3 transcription activator complex|cytosol|endosome membrane ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding p.E566K(1)|p.E593K(1) endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 28 all_cancers(76;6.4e-08)|Acute lymphoblastic leukemia(125;1.43e-09)|Prostate(29;9.32e-09)|all_hematologic(105;3.69e-06)|all_epithelial(107;0.000187)|Ovarian(999;0.0164) OV - Ovarian serous cystadenocarcinoma(136;2.05e-11)|all cancers(137;3.25e-11)|GBM - Glioblastoma multiforme(226;0.0416)|BRCA - Breast invasive adenocarcinoma(108;0.0429) CTGATGACCTCTAGTTGTTTT 0.378000 21 50 0 0 1 0 0 GLB1L2 89944 broad.mit.edu 37 11 134244581 134244581 + Missense_Mutation SNP C C A TCGA-D9-A4Z5-01A-11D-A25O-08 TCGA-D9-A4Z5-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx D486B1EB-917D-4F21-8B9D-51D1F962B129 07157C0C-E999-48BF-865E-7AFE56A91202 g.chr11:134244581C>A ENST00000535456.2 + 18 1981 c.1793C>A c.(1792-1794)cCa>cAa p.P598Q GLB1L2_ENST00000529077.1_3'UTR|GLB1L2_ENST00000339772.7_Missense_Mutation_p.P598Q|GLB1L2_ENST00000389881.3_Missense_Mutation_p.P598Q NM_138342.3 NP_612351.2 Q8IW92 GLBL2_HUMAN galactosidase, beta 1-like 2 598 carbohydrate metabolic process extracellular region cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 41 all_hematologic(175;0.127) all_cancers(12;2.85e-18)|all_epithelial(12;1.21e-12)|all_lung(97;0.000276)|Lung NSC(97;0.000518)|Breast(109;0.00122)|Medulloblastoma(222;0.0399)|all_neural(223;0.0412)|Esophageal squamous(93;0.0844) Epithelial(10;1.37e-11)|all cancers(11;2.2e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000885)|Lung(977;0.223) CTTTACCTCCCAGGTCCCTGG 0.597000 7 67 0.0293803 0.0305104 1 1 0 IGSF21 84966 broad.mit.edu 37 1 18691938 18691938 + Silent SNP C C A TCGA-D9-A4Z5-01A-11D-A25O-08 TCGA-D9-A4Z5-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx D486B1EB-917D-4F21-8B9D-51D1F962B129 07157C0C-E999-48BF-865E-7AFE56A91202 g.chr1:18691938C>A ENST00000251296.1 + 6 1145 c.762C>A c.(760-762)ccC>ccA p.P254P NM_032880.4 NP_116269.3 Q96ID5 IGS21_HUMAN immunoglobin superfamily, member 21 254 extracellular region endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 40 Colorectal(325;0.000147)|Renal(390;0.00145)|all_lung(284;0.00366)|Lung NSC(340;0.00376)|Breast(348;0.00387)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439) UCEC - Uterine corpus endometrioid carcinoma (279;0.0121)|BRCA - Breast invasive adenocarcinoma(304;5.52e-05)|Kidney(64;0.00103)|KIRC - Kidney renal clear cell carcinoma(64;0.0102)|STAD - Stomach adenocarcinoma(196;0.0118)|READ - Rectum adenocarcinoma(331;0.157) CCCCAGATCCCAACATCCTCC 0.637000 6 164 8.12818e-05 9.33876e-05 1 1 0 SLC6A11 6538 broad.mit.edu 37 3 10960063 10960063 + Missense_Mutation SNP G G T TCGA-D9-A4Z5-01A-11D-A25O-08 TCGA-D9-A4Z5-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx D486B1EB-917D-4F21-8B9D-51D1F962B129 07157C0C-E999-48BF-865E-7AFE56A91202 g.chr3:10960063G>T ENST00000254488.2 + 8 1111 c.1045G>T c.(1045-1047)Ggg>Tgg p.G349W NM_014229.1 NP_055044.1 P48066 S6A11_HUMAN solute carrier family 6 (neurotransmitter transporter), member 11 349 neurotransmitter secretion integral to plasma membrane gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(13)|ovary(1)|skin(4) 35 OV - Ovarian serous cystadenocarcinoma(96;0.229) CTTCGTGGCTGGGTTTGCCAT 0.597000 19 13 1.67942e-08 2.15925e-08 1 1 0 LILRB4 11006 broad.mit.edu 37 19 55175308 55175308 + Missense_Mutation SNP G G T TCGA-D9-A4Z5-01A-11D-A25O-08 TCGA-D9-A4Z5-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx D486B1EB-917D-4F21-8B9D-51D1F962B129 07157C0C-E999-48BF-865E-7AFE56A91202 g.chr19:55175308G>T ENST00000391736.1 + 5 482 c.167G>T c.(166-168)cGg>cTg p.R56L LILRB4_ENST00000430952.2_Missense_Mutation_p.R56L|LILRB4_ENST00000270452.2_Missense_Mutation_p.R56L|LILRB4_ENST00000391734.3_Missense_Mutation_p.R56L|LILRB4_ENST00000391733.3_Missense_Mutation_p.R56L NM_001278426.2|NM_001278428.2|NM_001278429.2|NM_001278430.2 NP_001265355.1|NP_001265357.1|NP_001265358.1|NP_001265359.1 Q8NHJ6 LIRB4_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4 56 Ig-like C2-type 1. integral to membrane|plasma membrane antigen binding|receptor activity breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3) 39 GBM - Glioblastoma multiforme(193;0.035) CTGGAGGCTCGGGAGTACCGT 0.607000 25 151 9.86323e-18 1.38341e-17 1 1 0 BCKDHB 594 broad.mit.edu 37 6 80910684 80910684 + Missense_Mutation SNP C C G TCGA-D9-A4Z5-01A-11D-A25O-08 TCGA-D9-A4Z5-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx D486B1EB-917D-4F21-8B9D-51D1F962B129 07157C0C-E999-48BF-865E-7AFE56A91202 g.chr6:80910684C>G ENST00000320393.6 + 7 823 c.776C>G c.(775-777)cCa>cGa p.P259R BCKDHB_ENST00000545529.1_3'UTR|BCKDHB_ENST00000356489.5_Missense_Mutation_p.P259R NM_183050.2 NP_898871.1 P21953 ODBB_HUMAN branched chain keto acid dehydrogenase E1, beta polypeptide 259 branched chain family amino acid catabolic process mitochondrial alpha-ketoglutarate dehydrogenase complex 3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity|carboxy-lyase activity|protein binding central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(10)|upper_aerodigestive_tract(1) 15 all_cancers(76;1.38e-05)|Acute lymphoblastic leukemia(125;1.15e-05)|all_hematologic(105;0.00118)|all_epithelial(107;0.0149) BRCA - Breast invasive adenocarcinoma(397;0.0291) TACAACATCCCACTGTCCCAG 0.423000 6 50 0 0 1 0 0 PICK1 9463 broad.mit.edu 37 22 38471101 38471101 + Missense_Mutation SNP G G T TCGA-D9-A4Z5-01A-11D-A25O-08 TCGA-D9-A4Z5-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx D486B1EB-917D-4F21-8B9D-51D1F962B129 07157C0C-E999-48BF-865E-7AFE56A91202 g.chr22:38471101G>T ENST00000404072.3 + 13 1557 c.1210G>T c.(1210-1212)Ggg>Tgg p.G404W PICK1_ENST00000356976.3_Missense_Mutation_p.G404W NM_001039583.1|NM_001039584.1 NP_001034672.1|NP_001034673.1 Q9NRD5 PICK1_HUMAN protein interacting with PRKCA 1 404 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|DNA methylation involved in embryo development|DNA methylation involved in gamete generation|monoamine transport|neuronal ion channel clustering|protein phosphorylation|receptor clustering|retrograde vesicle-mediated transport, Golgi to ER|synaptic transmission cell junction|endocytic vesicle membrane|Golgi apparatus|perinuclear region of cytoplasm|presynaptic membrane ATPase activity|metal ion binding|protein C-terminus binding|protein kinase C binding|receptor binding cervix(1)|endometrium(3)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1) 13 Melanoma(58;0.045) AGGGGCTGCTGGGCCCTTGGA 0.682000 7 28 0.000274275 0.000311808 1 1 0 CROCCP3 114819 broad.mit.edu 37 1 16809824 16809824 + RNA SNP C C T TCGA-D9-A4Z5-01A-11D-A25O-08 TCGA-D9-A4Z5-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx D486B1EB-917D-4F21-8B9D-51D1F962B129 07157C0C-E999-48BF-865E-7AFE56A91202 g.chr1:16809824C>T ENST00000263511.4 - 0 1961 NR_023386.1 CTGCACCTCGCGCTGGGCGTC 0.662000 3 9 0 0 1 0 0 HLA-A 3105 broad.mit.edu 37 6 29910693 29910693 + Missense_Mutation SNP A A G rs41559716 by1000genomes TCGA-D9-A4Z5-01A-11D-A25O-08 TCGA-D9-A4Z5-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx D486B1EB-917D-4F21-8B9D-51D1F962B129 07157C0C-E999-48BF-865E-7AFE56A91202 g.chr6:29910693A>G ENST00000396634.1 + 4 574 c.233A>G c.(232-234)cAg>cGg p.Q78R HLA-A_ENST00000376806.5_Missense_Mutation_p.Q78R|HLA-A_ENST00000376809.5_Missense_Mutation_p.Q78R|HLA-A_ENST00000376802.2_Missense_Mutation_p.Q78R P30443 1A01_HUMAN major histocompatibility complex, class I, A 78 Alpha-1. antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway integral to plasma membrane|MHC class I protein complex MHC class I receptor activity p.Q78R(2) central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 30 TGGATAGAGCAGGAGGGGCCG 0.657000 Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of Multiple Myeloma(9;0.094) 3 33 0 0 1 0 0 BTNL8 79908 broad.mit.edu 37 5 180338480 180338480 + Missense_Mutation SNP G G T TCGA-D9-A4Z5-01A-11D-A25O-08 TCGA-D9-A4Z5-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx D486B1EB-917D-4F21-8B9D-51D1F962B129 07157C0C-E999-48BF-865E-7AFE56A91202 g.chr5:180338480G>T ENST00000231229.4 + 3 773 c.539G>T c.(538-540)aGg>aTg p.R180M BTNL8_ENST00000533815.2_5'UTR|BTNL8_ENST00000511704.1_Missense_Mutation_p.R64M|BTNL8_ENST00000505126.1_5'UTR|BTNL8_ENST00000508408.1_Missense_Mutation_p.R180M|BTNL8_ENST00000400707.3_Missense_Mutation_p.R55M|BTNL8_ENST00000340184.4_Missense_Mutation_p.R180M NM_001159708.1|NM_024850.2 NP_001153180.1|NP_079126.1 Q6UX41 BTNL8_HUMAN butyrophilin-like 8 180 Ig-like V-type 2. integral to membrane breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 28 all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114) all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) ACAGACTCCAGGACAAACAGA 0.552000 24 91 2.21704e-12 2.993e-12 1 1 0 SPDEF 25803 broad.mit.edu 37 6 34511922 34511922 + Missense_Mutation SNP C C T TCGA-D9-A4Z5-01A-11D-A25O-08 TCGA-D9-A4Z5-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx D486B1EB-917D-4F21-8B9D-51D1F962B129 07157C0C-E999-48BF-865E-7AFE56A91202 g.chr6:34511922C>T ENST00000374037.3 - 2 725 c.311G>A c.(310-312)aGc>aAc p.S104N SPDEF_ENST00000544425.1_Missense_Mutation_p.S104N NM_012391.2 NP_036523.1 O95238 SPDEF_HUMAN SAM pointed domain containing ETS transcription factor 104 negative regulation of survival gene product expression|negative regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3) 15 CAAGTCCAGGCTGCCCGCTGG 0.682000 20 22 0 0 1 0 0 TRIP11 9321 broad.mit.edu 37 14 92471136 92471136 + Missense_Mutation SNP G G T TCGA-D9-A4Z5-01A-11D-A25O-08 TCGA-D9-A4Z5-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx D486B1EB-917D-4F21-8B9D-51D1F962B129 07157C0C-E999-48BF-865E-7AFE56A91202 g.chr14:92471136G>T ENST00000267622.4 - 11 3557 c.3184C>A c.(3184-3186)Cag>Aag p.Q1062K NM_004239.3 NP_004230.2 Q15643 TRIPB_HUMAN thyroid hormone receptor interactor 11 1062 transcription from RNA polymerase II promoter cytoskeleton|Golgi apparatus|membrane|nucleus protein binding|transcription coactivator activity breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 58 COAD - Colon adenocarcinoma(157;0.223) TCTTTCTGCTGAATAATCTGA 0.343000 T PDGFRB AML 8 42 5.4927e-09 7.14713e-09 1 1 0 FBN3 84467 broad.mit.edu 37 19 8152717 8152717 + Missense_Mutation SNP A A C TCGA-D9-A4Z5-01A-11D-A25O-08 TCGA-D9-A4Z5-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx D486B1EB-917D-4F21-8B9D-51D1F962B129 07157C0C-E999-48BF-865E-7AFE56A91202 g.chr19:8152717A>C ENST00000600128.1 - 53 7025 c.6611T>G c.(6610-6612)aTg>aGg p.M2204R FBN3_ENST00000270509.2_Missense_Mutation_p.M2204R|FBN3_ENST00000601739.1_Missense_Mutation_p.M2204R Q75N90 FBN3_HUMAN fibrillin 3 2204 EGF-like 35; calcium-binding. proteinaceous extracellular matrix calcium ion binding|extracellular matrix structural constituent NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 132 acctcgaCACATGGCCCCATC 0.557000 29 11 0 0 1 0 0 TMEM38B 55151 broad.mit.edu 37 9 108467983 108467983 + Missense_Mutation SNP C C A TCGA-D9-A4Z5-01A-11D-A25O-08 TCGA-D9-A4Z5-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx D486B1EB-917D-4F21-8B9D-51D1F962B129 07157C0C-E999-48BF-865E-7AFE56A91202 g.chr9:108467983C>A ENST00000374688.1 + 2 766 c.56C>A c.(55-57)cCa>cAa p.P19Q TMEM38B_ENST00000374692.3_Missense_Mutation_p.P73Q Q9NVV0 TM38B_HUMAN transmembrane protein 38B 73 integral to membrane|nuclear membrane|sarcoplasmic reticulum membrane potassium channel activity kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 13 GCAGAGCCTCCATTGAAGTTT 0.418000 14 49 1.45105e-14 1.98372e-14 1 1 0 LOC645752 645752 broad.mit.edu 37 15 78211484 78211484 + RNA SNP C C T TCGA-D9-A4Z5-01A-11D-A25O-08 TCGA-D9-A4Z5-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx D486B1EB-917D-4F21-8B9D-51D1F962B129 07157C0C-E999-48BF-865E-7AFE56A91202 g.chr15:78211484C>T ENST00000565869.1 + 0 111 RP11-114H24.2_ENST00000567226.1_RNA TCCTCCTGCTCCTGGAGTCTC 0.587000 56 44 0 0 1 0 0 SNX25 83891 broad.mit.edu 37 4 186180144 186180144 + Silent SNP G G T TCGA-D9-A4Z5-01A-11D-A25O-08 TCGA-D9-A4Z5-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx D486B1EB-917D-4F21-8B9D-51D1F962B129 07157C0C-E999-48BF-865E-7AFE56A91202 g.chr4:186180144G>T ENST00000504273.1 + 3 459 c.165G>T c.(163-165)gtG>gtT p.V55V SNX25_ENST00000264694.8_Silent_p.V55V Q9H3E2 SNX25_HUMAN sorting nexin 25 55 PXA. cell communication|protein transport endosome membrane phosphatidylinositol binding|signal transducer activity NS(1)|breast(4)|endometrium(2)|kidney(4)|large_intestine(8)|lung(13)|ovary(2)|pancreas(2)|prostate(2)|urinary_tract(2) 40 all_lung(41;1.03e-13)|Lung NSC(41;2.5e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243) all cancers(43;2.13e-24)|Epithelial(43;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.6e-11)|BRCA - Breast invasive adenocarcinoma(30;0.00013)|Colorectal(24;0.000165)|GBM - Glioblastoma multiforme(59;0.000357)|COAD - Colon adenocarcinoma(29;0.000887)|STAD - Stomach adenocarcinoma(60;0.00118)|LUSC - Lung squamous cell carcinoma(40;0.0129)|READ - Rectum adenocarcinoma(43;0.228) ACGTGGATGTGGTTAAAGTTG 0.468000 3 31 1 1 1 1 0 RP11-483E23.2 0 broad.mit.edu 37 15 28599954 28599954 + RNA SNP A A G rs144345425 by1000genomes TCGA-D9-A4Z5-01A-11D-A25O-08 TCGA-D9-A4Z5-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx D486B1EB-917D-4F21-8B9D-51D1F962B129 07157C0C-E999-48BF-865E-7AFE56A91202 g.chr15:28599954A>G ENST00000568624.1 - 0 452 GGCTGTAGTAAAGTGCCATCT 0.478000 3 50 0 0 1 0 0 OR51A4 401666 broad.mit.edu 37 11 4967967 4967967 + Missense_Mutation SNP A A G TCGA-D9-A4Z5-01A-11D-A25O-08 TCGA-D9-A4Z5-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx D486B1EB-917D-4F21-8B9D-51D1F962B129 07157C0C-E999-48BF-865E-7AFE56A91202 g.chr11:4967967A>G ENST00000380373.2 - 1 389 c.364T>C c.(364-366)Ttt>Ctt p.F122L MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron NM_001005329.1 NP_001005329.1 Q8NGJ6 O51A4_HUMAN olfactory receptor, family 51, subfamily A, member 4 122 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(3)|lung(15)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1) 29 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19) AATCTATCAAATGACATGATC 0.438000 21 120 0 0 1 0 0 GP2 2813 broad.mit.edu 37 16 20335488 20335488 + Missense_Mutation SNP G G T TCGA-D9-A4Z5-01A-11D-A25O-08 TCGA-D9-A4Z5-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx D486B1EB-917D-4F21-8B9D-51D1F962B129 07157C0C-E999-48BF-865E-7AFE56A91202 g.chr16:20335488G>T ENST00000302555.5 - 3 334 c.185C>A c.(184-186)cCc>cAc p.P62H GP2_ENST00000381360.5_Intron|GP2_ENST00000381362.4_Missense_Mutation_p.P62H|GP2_ENST00000341642.5_Intron P55259 GP2_HUMAN glycoprotein 2 (zymogen granule membrane) 62 anchored to membrane|extracellular region|plasma membrane breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 48 ATTCTGACAGGGGTCAAAACA 0.552000 11 35 1.61879e-10 2.13207e-10 1 1 0 FCGBP 8857 broad.mit.edu 37 19 40368357 40368357 + Missense_Mutation SNP C C T TCGA-D9-A4Z5-01A-11D-A25O-08 TCGA-D9-A4Z5-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx D486B1EB-917D-4F21-8B9D-51D1F962B129 07157C0C-E999-48BF-865E-7AFE56A91202 g.chr19:40368357C>T ENST00000221347.6 - 28 12998 c.12991G>A c.(12991-12993)Gcc>Acc p.A4331T NM_003890.2 NP_003881.2 Q9Y6R7 FCGBP_HUMAN Fc fragment of IgG binding protein 4331 extracellular region protein binding p.A4331T(1) NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3) 165 all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06) Epithelial(26;6.25e-23)|all cancers(26;1.13e-20) GCCTGGCAGGCGGCCACGTAG 0.647000 17 149 0 0 1 0 0 RPL32P3 132241 broad.mit.edu 37 3 129116038 129116038 + RNA SNP C C T TCGA-D9-A4Z5-01A-11D-A25O-08 TCGA-D9-A4Z5-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx D486B1EB-917D-4F21-8B9D-51D1F962B129 07157C0C-E999-48BF-865E-7AFE56A91202 g.chr3:129116038C>T ENST00000514355.1 - 0 412 lung(1) 1 GAGGCTTTCCCGCCCAGGGAC 0.567000 5 57 0 0 1 0 0 INHBB 3625 broad.mit.edu 37 2 121107068 121107068 + Missense_Mutation SNP G G A TCGA-D9-A4Z5-01A-11D-A25O-08 TCGA-D9-A4Z5-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx D486B1EB-917D-4F21-8B9D-51D1F962B129 07157C0C-E999-48BF-865E-7AFE56A91202 g.chr2:121107068G>A ENST00000295228.3 + 2 888 c.842G>A c.(841-843)cGg>cAg p.R281Q NM_002193.2 NP_002184.2 P09529 INHBB_HUMAN inhibin, beta B 281 activin receptor signaling pathway|cellular response to insulin stimulus|cellular response to starvation|defense response|fat cell differentiation|growth|negative regulation of follicle-stimulating hormone secretion|negative regulation of hepatocyte growth factor biosynthetic process|negative regulation of insulin secretion|ovarian follicle development|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation extracellular region|perinuclear region of cytoplasm cytokine activity|growth factor activity|hormone activity|host cell surface receptor binding|protein homodimerization activity NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(4)|pancreas(2)|skin(2) 15 Prostate(154;0.122) GTGCAGGCTCGGCTGGGCGAC 0.642000 26 58 0 0 1 0 0 HERC2P3 283755 broad.mit.edu 37 15 20588554 20588554 + RNA SNP C C G rs112526901 by1000genomes TCGA-D9-A4Z5-01A-11D-A25O-08 TCGA-D9-A4Z5-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx D486B1EB-917D-4F21-8B9D-51D1F962B129 07157C0C-E999-48BF-865E-7AFE56A91202 g.chr15:20588554C>G ENST00000428453.1 - 0 4196 central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 35 CCGTGGAAAGCGGTTGCAGAA 0.473000 4 77 0 0 1 0 0 RYR1 6261 broad.mit.edu 37 19 38993211 38993211 + Missense_Mutation SNP C C T TCGA-D9-A4Z5-01A-11D-A25O-08 TCGA-D9-A4Z5-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx D486B1EB-917D-4F21-8B9D-51D1F962B129 07157C0C-E999-48BF-865E-7AFE56A91202 g.chr19:38993211C>T ENST00000355481.4 + 48 7810 c.7679C>T c.(7678-7680)cCg>cTg p.P2560L RYR1_ENST00000360985.3_Missense_Mutation_p.P2560L|RYR1_ENST00000359596.3_Missense_Mutation_p.P2560L NM_000540.2|NM_001042723.1 NP_000531.2|NP_001036188.1 P21817 RYR1_HUMAN ryanodine receptor 1 (skeletal) 2560 6 X approximate repeats. 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 p.P2560L(1) 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) GCCGTGCTGCCGCTCATCACC 0.647000 18 11 0 0 1 0 0 NMBR 4829 broad.mit.edu 37 6 142396893 142396893 + Silent SNP G G T TCGA-D9-A4Z5-01A-11D-A25O-08 TCGA-D9-A4Z5-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx D486B1EB-917D-4F21-8B9D-51D1F962B129 07157C0C-E999-48BF-865E-7AFE56A91202 g.chr6:142396893G>T ENST00000258042.1 - 3 1205 c.1065C>A c.(1063-1065)ctC>ctA p.L355L NMBR_ENST00000480652.1_5'UTR NM_002511.2 NP_002502.2 P28336 NMBR_HUMAN neuromedin B receptor 355 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger cytoplasm|integral to plasma membrane bombesin receptor activity breast(2)|central_nervous_system(3)|endometrium(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 23 Breast(32;0.155) OV - Ovarian serous cystadenocarcinoma(155;9.93e-06)|GBM - Glioblastoma multiforme(68;0.0013) CTGAAGAGCTGAGTAGGTAGC 0.463000 4 74 1.23904e-05 1.45453e-05 1 1 0 KCNH6 81033 broad.mit.edu 37 17 61607554 61607554 + Missense_Mutation SNP C C T TCGA-D9-A4Z5-01A-11D-A25O-08 TCGA-D9-A4Z5-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx D486B1EB-917D-4F21-8B9D-51D1F962B129 07157C0C-E999-48BF-865E-7AFE56A91202 g.chr17:61607554C>T ENST00000583023.1 + 3 421 c.410C>T c.(409-411)gCc>gTc p.A137V KCNH6_ENST00000580652.1_Missense_Mutation_p.A137V|KCNH6_ENST00000314672.5_Missense_Mutation_p.A137V|KCNH6_ENST00000581784.1_Missense_Mutation_p.A137V|KCNH6_ENST00000456941.2_Missense_Mutation_p.A137V NM_030779.2 NP_110406.1 Q9H252 KCNH6_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 6 137 PAC. regulation of transcription, DNA-dependent|signal transduction breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 54 Ibutilide(DB00308) CAGCTCCTGGCCAAGTGCAGC 0.627000 9 75 0 0 1 0 0 AKR7A3 22977 broad.mit.edu 37 1 19612766 19612766 + Silent SNP G G A TCGA-D9-A4Z5-01A-11D-A25O-08 TCGA-D9-A4Z5-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx D486B1EB-917D-4F21-8B9D-51D1F962B129 07157C0C-E999-48BF-865E-7AFE56A91202 g.chr1:19612766G>A ENST00000361640.4 - 2 855 c.315C>T c.(313-315)ccC>ccT p.P105P NM_012067.2 NP_036199.2 O95154 ARK73_HUMAN aldo-keto reductase family 7, member A3 (aflatoxin aldehyde reductase) 105 cellular aldehyde metabolic process cytosol aldo-keto reductase (NADP) activity|electron carrier activity NS(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|ovary(1)|stomach(2) 13 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;1.78e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|GBM - Glioblastoma multiforme(114;0.00276)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) GGTCCACTCGGGGACACTGCA 0.592000 28 45 0 0 1 0 0 MAPRE3 22924 broad.mit.edu 37 2 27247084 27247084 + Missense_Mutation SNP C C T TCGA-D9-A4Z5-01A-11D-A25O-08 TCGA-D9-A4Z5-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx D486B1EB-917D-4F21-8B9D-51D1F962B129 07157C0C-E999-48BF-865E-7AFE56A91202 g.chr2:27247084C>T ENST00000233121.2 + 4 586 c.388C>T c.(388-390)Cgg>Tgg p.R130W MAPRE3_ENST00000402218.1_Missense_Mutation_p.R130W|MAPRE3_ENST00000405074.3_Missense_Mutation_p.R130W Q9UPY8 MARE3_HUMAN microtubule-associated protein, RP/EB family, member 3 130 cell division|mitosis|positive regulation of transcription, DNA-dependent cytoplasm|cytoplasmic microtubule|microtubule|midbody|perinuclear region of cytoplasm microtubule binding|protein binding|small GTPase regulator activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(3)|upper_aerodigestive_tract(1) 13 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TCTGCTGGCGCGGCAGGGCCA 0.473000 22 26 0 0 1 0 0 TRIP11 9321 broad.mit.edu 37 14 92472033 92472033 + Missense_Mutation SNP G G A TCGA-D9-A4Z5-01A-11D-A25O-08 TCGA-D9-A4Z5-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx D486B1EB-917D-4F21-8B9D-51D1F962B129 07157C0C-E999-48BF-865E-7AFE56A91202 g.chr14:92472033G>A ENST00000267622.4 - 11 2660 c.2287C>T c.(2287-2289)Cat>Tat p.H763Y NM_004239.3 NP_004230.2 Q15643 TRIPB_HUMAN thyroid hormone receptor interactor 11 763 transcription from RNA polymerase II promoter cytoskeleton|Golgi apparatus|membrane|nucleus protein binding|transcription coactivator activity breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 58 COAD - Colon adenocarcinoma(157;0.223) TTAATTAAATGCTCATGTTCC 0.343000 T PDGFRB AML 28 119 0 0 1 0 0 ADAMDEC1 27299 broad.mit.edu 37 8 24259555 24259555 + Missense_Mutation SNP G G T TCGA-D9-A4Z5-01A-11D-A25O-08 TCGA-D9-A4Z5-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx D486B1EB-917D-4F21-8B9D-51D1F962B129 07157C0C-E999-48BF-865E-7AFE56A91202 g.chr8:24259555G>T ENST00000538205.1 + 13 1580 c.1033G>T c.(1033-1035)Ggg>Tgg p.G345W RP11-624C23.1_ENST00000519689.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA|ADAMDEC1_ENST00000256412.4_Missense_Mutation_p.G424W|ADAMDEC1_ENST00000522298.1_Missense_Mutation_p.G345W NM_001145271.1 NP_001138743.1 O15204 ADEC1_HUMAN ADAM-like, decysin 1 424 Peptidase M12B. integrin-mediated signaling pathway|negative regulation of cell adhesion|proteolysis extracellular region|integral to membrane integrin binding|metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|large_intestine(4)|skin(2)|stomach(1) 9 Prostate(55;0.0181) Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168) ACCAGTGTGTGGGAACCACCT 0.393000 3 26 0.184627 0.188111 1 1 0 TECPR2 9895 broad.mit.edu 37 14 102963969 102963969 + Missense_Mutation SNP G G C TCGA-D9-A4Z5-01A-11D-A25O-08 TCGA-D9-A4Z5-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx D486B1EB-917D-4F21-8B9D-51D1F962B129 07157C0C-E999-48BF-865E-7AFE56A91202 g.chr14:102963969G>C ENST00000359520.7 + 19 4220 c.3994G>C c.(3994-3996)Gac>Cac p.D1332H NM_014844.3 NP_055659.2 O15040 TCPR2_HUMAN tectonin beta-propeller repeat containing 2 1332 protein binding breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(21)|ovary(2)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1) 50 TCCAAACGGAGACCTCGCCCG 0.672000 6 18 0 0 1 0 0 LPA 4018 broad.mit.edu 37 6 160977080 160977080 + Silent SNP C C T TCGA-D9-A4Z5-01A-11D-A25O-08 TCGA-D9-A4Z5-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx D486B1EB-917D-4F21-8B9D-51D1F962B129 07157C0C-E999-48BF-865E-7AFE56A91202 g.chr6:160977080C>T ENST00000447678.1 - 31 5070 c.4950G>A c.(4948-4950)agG>agA p.R1650R LPA_ENST00000316300.5_Silent_p.R1650R NM_005577.2 NP_005568.2 P08519 APOA_HUMAN lipoprotein, Lp(a) 4158 Kringle 15. blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis plasma lipoprotein particle apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1) 107 Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965) OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06) Aminocaproic Acid(DB00513) TTTCTGGGGTCCTCTGATGCC 0.468000 18 39 0 0 1 0 0 PARP14 54625 broad.mit.edu 37 3 122432362 122432362 + Silent SNP G G A TCGA-D9-A4Z5-01A-11D-A25O-08 TCGA-D9-A4Z5-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx D486B1EB-917D-4F21-8B9D-51D1F962B129 07157C0C-E999-48BF-865E-7AFE56A91202 g.chr3:122432362G>A ENST00000474629.2 + 10 3977 c.3711G>A c.(3709-3711)acG>acA p.T1237T NM_017554.2 NP_060024.2 Q460N5 PAR14_HUMAN poly (ADP-ribose) polymerase family, member 14 1237 Macro 3. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane NAD+ ADP-ribosyltransferase activity NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1) 50 GBM - Glioblastoma multiforme(114;0.0531) GAGATATCACGAAAGAAGAGG 0.383000 21 2 0 0 1 0 0 SAMD9L 219285 broad.mit.edu 37 7 92761033 92761033 + Nonsense_Mutation SNP C C A TCGA-D9-A4Z5-01A-11D-A25O-08 TCGA-D9-A4Z5-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx D486B1EB-917D-4F21-8B9D-51D1F962B129 07157C0C-E999-48BF-865E-7AFE56A91202 g.chr7:92761033C>A ENST00000318238.4 - 5 5468 c.4252G>T c.(4252-4254)Gga>Tga p.G1418* SAMD9L_ENST00000411955.1_Nonsense_Mutation_p.G1418*|SAMD9L_ENST00000437805.1_Nonsense_Mutation_p.G1418* NM_152703.2 NP_689916.2 Q8IVG5 SAM9L_HUMAN sterile alpha motif domain containing 9-like 1418 central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 88 all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989) STAD - Stomach adenocarcinoma(171;0.000302) TGACTTAGTCCTACAAATTGC 0.398000 12 98 1.61879e-10 2.13207e-10 1 1 0 OR5AC2 81050 broad.mit.edu 37 3 97806804 97806804 + Missense_Mutation SNP G G A TCGA-D9-A4Z5-01A-11D-A25O-08 TCGA-D9-A4Z5-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx D486B1EB-917D-4F21-8B9D-51D1F962B129 07157C0C-E999-48BF-865E-7AFE56A91202 g.chr3:97806804G>A ENST00000358642.2 + 1 788 c.788G>A c.(787-789)cGt>cAt p.R263H NM_054106.1 NP_473447.1 Q9NZP5 O5AC2_HUMAN olfactory receptor, family 5, subfamily AC, member 2 263 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.R263H(1) endometrium(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1) 28 ATGTATGTGCGTCCTGCATCT 0.428000 15 1 0 0 1 0 0 MAP1LC3C 440738 broad.mit.edu 37 1 242161837 242161837 + Missense_Mutation SNP G G A TCGA-D9-A4Z5-01A-11D-A25O-08 TCGA-D9-A4Z5-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx D486B1EB-917D-4F21-8B9D-51D1F962B129 07157C0C-E999-48BF-865E-7AFE56A91202 g.chr1:242161837G>A ENST00000357246.3 - 3 264 c.200C>T c.(199-201)aCc>aTc p.T67I NM_001004343.2 NP_001004343.1 Q9BXW4 MLP3C_HUMAN microtubule-associated protein 1 light chain 3 gamma 67 autophagy autophagic vacuole membrane|cytoplasmic vesicle|endomembrane system|microtubule protein binding endometrium(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1) 13 OV - Ovarian serous cystadenocarcinoma(106;0.0188) GAGGAACTGGGTCATGGTCAG 0.622000 OREG0014354 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 18 28 0 0 1 0 0 ZAN 7455 broad.mit.edu 37 7 100385659 100385659 + RNA SNP C C T TCGA-D9-A4Z5-01A-11D-A25O-08 TCGA-D9-A4Z5-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx D486B1EB-917D-4F21-8B9D-51D1F962B129 07157C0C-E999-48BF-865E-7AFE56A91202 g.chr7:100385659C>T ENST00000542585.1 + 0 7273 ZAN_ENST00000538115.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000546213.1_RNA NM_003386.1 NP_003377.1 Q9Y493 ZAN_HUMAN zonadhesin (gene/pseudogene) binding of sperm to zona pellucida|cell-cell adhesion integral to membrane|plasma membrane NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3) 139 Lung NSC(181;0.041)|all_lung(186;0.0581) STAD - Stomach adenocarcinoma(171;0.19) TGGAAGGACGCAACAAGATGG 0.567000 8 44 0 0 1 0 0 LPA 4018 broad.mit.edu 37 6 160977073 160977073 + Missense_Mutation SNP C C T TCGA-D9-A4Z5-01A-11D-A25O-08 TCGA-D9-A4Z5-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx D486B1EB-917D-4F21-8B9D-51D1F962B129 07157C0C-E999-48BF-865E-7AFE56A91202 g.chr6:160977073C>T ENST00000447678.1 - 31 5077 c.4957G>A c.(4957-4959)Gaa>Aaa p.E1653K LPA_ENST00000316300.5_Missense_Mutation_p.E1653K NM_005577.2 NP_005568.2 P08519 APOA_HUMAN lipoprotein, Lp(a) 4161 Kringle 15. blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis plasma lipoprotein particle apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1) 107 Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965) OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06) Aminocaproic Acid(DB00513) GGGTAGTTTTCTGGGGTCCTC 0.458000 18 38 0 0 1 0 0 AGO2 27161 broad.mit.edu 37 8 141595255 141595255 + Missense_Mutation SNP C C T TCGA-D9-A4Z5-01A-11D-A25O-08 TCGA-D9-A4Z5-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx D486B1EB-917D-4F21-8B9D-51D1F962B129 07157C0C-E999-48BF-865E-7AFE56A91202 g.chr8:141595255C>T ENST00000220592.5 - 2 290 c.178G>A c.(178-180)Gat>Aat p.D60N AGO2_ENST00000517293.1_5'UTR|AGO2_ENST00000519980.1_Missense_Mutation_p.D60N NM_012154.3 NP_036286.2 argonaute RISC catalytic component 2 GGCTTGATATCCAATTCATAA 0.448000 7 64 0 0 1 0 0 ZBED2 79413 broad.mit.edu 37 3 111312564 111312564 + Missense_Mutation SNP C C A rs144259563 byFrequency TCGA-D9-A4Z5-01A-11D-A25O-08 TCGA-D9-A4Z5-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx D486B1EB-917D-4F21-8B9D-51D1F962B129 07157C0C-E999-48BF-865E-7AFE56A91202 g.chr3:111312564C>A ENST00000317012.4 - 2 1493 c.485G>T c.(484-486)aGg>aTg p.R162M CD96_ENST00000283285.5_Intron|CD96_ENST00000438817.2_Intron|CD96_ENST00000352690.4_Intron NM_024508.4 NP_078784.2 Q9BTP6 ZBED2_HUMAN zinc finger, BED-type containing 2 162 DNA binding|metal ion binding large_intestine(3)|lung(1)|skin(2) 6 CCTTTCCCTCCTAAGCACCTC 0.607000 15 46 0.00498961 0.00533542 1 1 0 ACE2 59272 broad.mit.edu 37 X 15584429 15584429 + Silent SNP T T A TCGA-D9-A4Z5-01A-11D-A25O-08 TCGA-D9-A4Z5-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx D486B1EB-917D-4F21-8B9D-51D1F962B129 07157C0C-E999-48BF-865E-7AFE56A91202 g.chrX:15584429T>A ENST00000427411.1 - 17 2277 c.2061A>T c.(2059-2061)gcA>gcT p.A687A ACE2_ENST00000252519.3_Silent_p.A687A NM_021804.2 NP_068576.1 Q9BYF1 ACE2_HUMAN angiotensin I converting enzyme 2 687 angiotensin-mediated drinking behavior|proteolysis|receptor biosynthetic process|regulation of cell proliferation|virion attachment, binding of host cell surface receptor cell surface|extracellular space|integral to membrane|membrane raft|plasma membrane carboxypeptidase activity|glycoprotein binding|metallopeptidase activity|peptidyl-dipeptidase activity|viral receptor activity|zinc ion binding endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1) 32 Hepatocellular(33;0.183) Moexipril(DB00691) CATTTTTAGGTGCAGTGACAA 0.398000 57 6 0 0 1 0 0 ERCC6 2074 broad.mit.edu 37 10 50686456 50686456 + Missense_Mutation SNP G G A TCGA-D9-A4Z5-01A-11D-A25O-08 TCGA-D9-A4Z5-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx D486B1EB-917D-4F21-8B9D-51D1F962B129 07157C0C-E999-48BF-865E-7AFE56A91202 g.chr10:50686456G>A ENST00000355832.5 - 11 2308 c.2230C>T c.(2230-2232)Cgg>Tgg p.R744W ERCC6_ENST00000542458.1_Missense_Mutation_p.R114W NM_000124.2 NP_000115.1 Q03468 ERCC6_HUMAN excision repair cross-complementing rodent repair deficiency, complementation group 6 744 base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair nucleolus|soluble fraction|transcription elongation factor complex ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 TTCATTCTCCGCAGTAGGTAT 0.383000 Direct reversal of damage;Nucleotide excision repair (NER) 4 119 0 0 1 0 0 CCDC87 55231 broad.mit.edu 37 11 66359169 66359169 + Missense_Mutation SNP C C T TCGA-D9-A4Z5-01A-11D-A25O-08 TCGA-D9-A4Z5-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx D486B1EB-917D-4F21-8B9D-51D1F962B129 07157C0C-E999-48BF-865E-7AFE56A91202 g.chr11:66359169C>T ENST00000333861.3 - 1 1385 c.1318G>A c.(1318-1320)Gtg>Atg p.V440M NM_018219.2 NP_060689.2 Q9NVE4 CCD87_HUMAN coiled-coil domain containing 87 440 central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 28 GCCTGGACCACGACCTCATTT 0.552000 34 57 0 0 1 0 0 ANKMY2 57037 broad.mit.edu 37 7 16640497 16640497 + Missense_Mutation SNP C C A TCGA-D9-A4Z5-01A-11D-A25O-08 TCGA-D9-A4Z5-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx D486B1EB-917D-4F21-8B9D-51D1F962B129 07157C0C-E999-48BF-865E-7AFE56A91202 g.chr7:16640497C>A ENST00000306999.2 - 10 1458 c.1215G>T c.(1213-1215)aaG>aaT p.K405N NM_020319.2 NP_064715.1 Q8IV38 ANKY2_HUMAN ankyrin repeat and MYND domain containing 2 405 cilium zinc ion binding central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1) 23 Lung NSC(10;0.103)|all_lung(11;0.204) UCEC - Uterine corpus endometrioid carcinoma (126;0.195) GATTGGAATCCTTTTGAGAGA 0.423000 3 39 1 1 1 1 0 MLLT3 4300 broad.mit.edu 37 9 20414340 20414340 + Silent SNP G G A TCGA-D9-A4Z5-01A-11D-A25O-08 TCGA-D9-A4Z5-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx D486B1EB-917D-4F21-8B9D-51D1F962B129 07157C0C-E999-48BF-865E-7AFE56A91202 g.chr9:20414340G>A ENST00000380338.4 - 5 790 c.504C>T c.(502-504)agC>agT p.S168S MLLT3_ENST00000429426.2_Silent_p.S165S|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_5'UTR NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 168 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.S168S(5) central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7) 66 GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05) tgctgctgctgctactgctgc 0.537000 T MLL ALL 5 98 0 0 1 0 0 MAP3K7 6885 broad.mit.edu 37 6 91226241 91226241 + Missense_Mutation SNP C C G TCGA-D9-A4Z5-01A-11D-A25O-08 TCGA-D9-A4Z5-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx D486B1EB-917D-4F21-8B9D-51D1F962B129 07157C0C-E999-48BF-865E-7AFE56A91202 g.chr6:91226241C>G ENST00000369329.3 - 17 1961 c.1800G>C c.(1798-1800)caG>caC p.Q600H MAP3K7_ENST00000369320.1_Missense_Mutation_p.Q254H|MAP3K7_ENST00000369325.3_3'UTR|MAP3K7_ENST00000369332.3_Missense_Mutation_p.Q573H|MAP3K7_ENST00000479630.1_5'UTR|MAP3K7_ENST00000369327.3_3'UTR NM_145331.2 NP_663304.1 O43318 M3K7_HUMAN mitogen-activated protein kinase kinase kinase 7 600 activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|histone H3 acetylation|I-kappaB phosphorylation|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transforming growth factor beta receptor signaling pathway Ada2/Gcn5/Ada3 transcription activator complex|cytosol|endosome membrane ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 28 all_cancers(76;6.4e-08)|Acute lymphoblastic leukemia(125;1.43e-09)|Prostate(29;9.32e-09)|all_hematologic(105;3.69e-06)|all_epithelial(107;0.000187)|Ovarian(999;0.0164) OV - Ovarian serous cystadenocarcinoma(136;2.05e-11)|all cancers(137;3.25e-11)|GBM - Glioblastoma multiforme(226;0.0416)|BRCA - Breast invasive adenocarcinoma(108;0.0429) CTTGTCGTTTCTGCTGCTGAC 0.353000 22 46 0 0 1 0 0 PRDM13 59336 broad.mit.edu 37 6 100062529 100062529 + Missense_Mutation SNP C C T TCGA-D9-A4Z5-01A-11D-A25O-08 TCGA-D9-A4Z5-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx D486B1EB-917D-4F21-8B9D-51D1F962B129 07157C0C-E999-48BF-865E-7AFE56A91202 g.chr6:100062529C>T ENST00000369214.1 + 4 2309 c.2048C>T c.(2047-2049)cCc>cTc p.P683L PRDM13_ENST00000369215.4_Missense_Mutation_p.P673L NM_021620.3 NP_067633.2 Q9H4Q3 PRD13_HUMAN PR domain containing 13 673 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(9)|prostate(1) 17 all_cancers(76;1.64e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0128)|Colorectal(196;0.069)|Lung NSC(302;0.186) BRCA - Breast invasive adenocarcinoma(108;0.0598) CCCGGCTATCCCCCGGAGCCT 0.716000 7 63 0 0 1 0 0 PRCC 5546 broad.mit.edu 37 1 156756826 156756826 + Missense_Mutation SNP G G C rs142005569 TCGA-D9-A4Z5-01A-11D-A25O-08 TCGA-D9-A4Z5-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx D486B1EB-917D-4F21-8B9D-51D1F962B129 07157C0C-E999-48BF-865E-7AFE56A91202 g.chr1:156756826G>C ENST00000271526.4 + 3 1215 c.943G>C c.(943-945)Gat>Cat p.D315H PRCC_ENST00000353233.3_Missense_Mutation_p.D315H|PRCC_ENST00000491853.1_3'UTR NM_005973.4 NP_005964.3 Q92733 PRCC_HUMAN papillary renal cell carcinoma (translocation-associated) 315 cell cycle|mitotic cell cycle checkpoint nucleus protein binding PRCC/TFE3(25) breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(5)|upper_aerodigestive_tract(1) 15 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) TTTCCAGGACGATGCAGCCAA 0.577000 T TFE3 papillary renal 11 121 0 0 1 0 0 OR10J1 26476 broad.mit.edu 37 1 159410193 159410193 + Silent SNP G G T TCGA-D9-A4Z5-01A-11D-A25O-08 TCGA-D9-A4Z5-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx D486B1EB-917D-4F21-8B9D-51D1F962B129 07157C0C-E999-48BF-865E-7AFE56A91202 g.chr1:159410193G>T ENST00000423932.3 + 1 682 c.645G>T c.(643-645)ctG>ctT p.L215L RP11-550P17.5_ENST00000431862.1_RNA NM_012351.2 NP_036483.2 P30954 O10J1_HUMAN olfactory receptor, family 10, subfamily J, member 1 215 sensory perception of smell|single fertilization integral to plasma membrane olfactory receptor activity endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|stomach(1) 25 all_hematologic(112;0.0429) TCAGTGTGCTGGTGCTTGTTG 0.453000 9 57 1.12685e-05 1.35222e-05 1 1 0 MAP3K7 6885 broad.mit.edu 37 6 91226396 91226396 + Missense_Mutation SNP C C T TCGA-D9-A4Z5-01A-11D-A25O-08 TCGA-D9-A4Z5-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx D486B1EB-917D-4F21-8B9D-51D1F962B129 07157C0C-E999-48BF-865E-7AFE56A91202 g.chr6:91226396C>T ENST00000369329.3 - 17 1806 c.1645G>A c.(1645-1647)Gaa>Aaa p.E549K MAP3K7_ENST00000369320.1_Missense_Mutation_p.E203K|MAP3K7_ENST00000369325.3_Missense_Mutation_p.R510K|MAP3K7_ENST00000369332.3_Missense_Mutation_p.E522K|MAP3K7_ENST00000479630.1_5'UTR|MAP3K7_ENST00000369327.3_Missense_Mutation_p.R483K NM_145331.2 NP_663304.1 O43318 M3K7_HUMAN mitogen-activated protein kinase kinase kinase 7 549 activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|histone H3 acetylation|I-kappaB phosphorylation|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transforming growth factor beta receptor signaling pathway Ada2/Gcn5/Ada3 transcription activator complex|cytosol|endosome membrane ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 28 all_cancers(76;6.4e-08)|Acute lymphoblastic leukemia(125;1.43e-09)|Prostate(29;9.32e-09)|all_hematologic(105;3.69e-06)|all_epithelial(107;0.000187)|Ovarian(999;0.0164) OV - Ovarian serous cystadenocarcinoma(136;2.05e-11)|all cancers(137;3.25e-11)|GBM - Glioblastoma multiforme(226;0.0416)|BRCA - Breast invasive adenocarcinoma(108;0.0429) GCAACTAGTTCTTGCCTACAA 0.353000 12 19 0 0 1 0 0 OR1L6 392390 broad.mit.edu 37 9 125512476 125512476 + Missense_Mutation SNP C C T TCGA-D9-A4Z5-01A-11D-A25O-08 TCGA-D9-A4Z5-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx D486B1EB-917D-4F21-8B9D-51D1F962B129 07157C0C-E999-48BF-865E-7AFE56A91202 g.chr9:125512476C>T ENST00000373684.1 + 1 458 c.458C>T c.(457-459)gCc>gTc p.A153V OR1L6_ENST00000304720.2_Missense_Mutation_p.A117V Q8NGR2 OR1L6_HUMAN olfactory receptor, family 1, subfamily L, member 6 153 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|large_intestine(5)|lung(4)|ovary(1)|stomach(1) 12 TACCTGCTGGCCTCTATGGCC 0.502000 6 80 0 0 1 0 0 MYH4 4622 broad.mit.edu 37 17 10358370 10358370 + Missense_Mutation SNP C C T TCGA-D9-A4Z5-01A-11D-A25O-08 TCGA-D9-A4Z5-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx D486B1EB-917D-4F21-8B9D-51D1F962B129 07157C0C-E999-48BF-865E-7AFE56A91202 g.chr17:10358370C>T ENST00000255381.2 - 21 2433 c.2323G>A c.(2323-2325)Gga>Aga p.G775R CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA NM_017533.2 NP_060003.2 Q9Y623 MYH4_HUMAN myosin, heavy chain 4, skeletal muscle 775 Actin-binding (By similarity).|Myosin head-like. muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 149 TCTAGAGTTCCCAGCAGGCCA 0.403000 234 23 0 0 1 0 0 CACNA1D 776 broad.mit.edu 37 3 53787666 53787666 + Missense_Mutation SNP T T C TCGA-D9-A4Z5-01A-11D-A25O-08 TCGA-D9-A4Z5-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx D486B1EB-917D-4F21-8B9D-51D1F962B129 07157C0C-E999-48BF-865E-7AFE56A91202 g.chr3:53787666T>C ENST00000288139.3 + 30 3921 c.3803T>C c.(3802-3804)tTc>tCc p.F1268S CACNA1D_ENST00000350061.5_Missense_Mutation_p.F1248S|CACNA1D_ENST00000422281.2_Missense_Mutation_p.F1248S|CACNA1D_ENST00000540742.1_Missense_Mutation_p.F155S NM_000720.2 NP_000711.1 Q01668 CAC1D_HUMAN calcium channel, voltage-dependent, L type, alpha 1D subunit 1248 axon guidance|energy reserve metabolic process|regulation of insulin secretion voltage-gated calcium channel complex voltage-gated calcium channel activity breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 90 BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613) Verapamil(DB00661) ACCGGGGTGTTCACCGTCGAG 0.478000 20 4 0 0 1 0 0 EP400NL 347918 broad.mit.edu 37 12 132589596 132589596 + Missense_Mutation SNP C C T TCGA-D9-A4Z5-01A-11D-A25O-08 TCGA-D9-A4Z5-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx D486B1EB-917D-4F21-8B9D-51D1F962B129 07157C0C-E999-48BF-865E-7AFE56A91202 g.chr12:132589596C>T ENST00000376625.4 + 1 1057 c.1031C>T c.(1030-1032)cCc>cTc p.P344L EP400NL_ENST00000443539.2_Missense_Mutation_p.P212L|EP400NL_ENST00000361109.5_Missense_Mutation_p.P191L|EP400NL_ENST00000389560.2_Missense_Mutation_p.P275L|EP400NL_ENST00000392352.1_Missense_Mutation_p.P212L EP400 N-terminal like endometrium(1)|lung(1)|prostate(2)|urinary_tract(1) 5 GAGGAGATTCCCCCAGCCTCT 0.557000 2 2 0 0 1 0 0 FLG 2312 broad.mit.edu 37 1 152286355 152286355 + Missense_Mutation SNP G G C TCGA-D9-A4Z5-01A-11D-A25O-08 TCGA-D9-A4Z5-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx D486B1EB-917D-4F21-8B9D-51D1F962B129 07157C0C-E999-48BF-865E-7AFE56A91202 g.chr1:152286355G>C ENST00000368799.1 - 3 1042 c.1007C>G c.(1006-1008)cCc>cGc p.P336R FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 336 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) ATGGGACCTGGGGTGTCTGGA 0.562000 Ichthyosis 28 145 0 0 1 0 0 LDLR 3949 broad.mit.edu 37 19 11233960 11233960 + Silent SNP C C A TCGA-D9-A4Z5-01A-11D-A25O-08 TCGA-D9-A4Z5-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx D486B1EB-917D-4F21-8B9D-51D1F962B129 07157C0C-E999-48BF-865E-7AFE56A91202 g.chr19:11233960C>A ENST00000558518.1 + 15 2438 c.2251C>A c.(2251-2253)Cgg>Agg p.R751R LDLR_ENST00000558013.1_Silent_p.R751R|LDLR_ENST00000545707.1_Silent_p.R573R|LDLR_ENST00000557933.1_Silent_p.R751R|LDLR_ENST00000535915.1_Silent_p.R710R|LDLR_ENST00000455727.2_Silent_p.R583R NM_000527.4|NM_001195798.1 NP_000518.1|NP_001182727.1 P01130 LDLR_HUMAN low density lipoprotein receptor 751 Clustered O-linked oligosaccharides. cholesterol homeostasis|cholesterol metabolic process|interspecies interaction between organisms|intestinal cholesterol absorption|low-density lipoprotein particle clearance|receptor-mediated endocytosis clathrin-coated endocytic vesicle membrane|coated pit|early endosome|endosome membrane|external side of plasma membrane|integral to plasma membrane|low-density lipoprotein particle|lysosome calcium ion binding|low-density lipoprotein receptor activity|protein binding|very-low-density lipoprotein particle receptor activity breast(2)|endometrium(2)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524) GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197) Methyl aminolevulinate(DB00992)|Porfimer(DB00707) CGACACCTCCCGGCTGCCTGG 0.622000 10 61 1.76689e-08 2.24499e-08 1 1 0 ARID5A 10865 broad.mit.edu 37 2 97217113 97217113 + Missense_Mutation SNP G G A TCGA-D9-A4Z5-01A-11D-A25O-08 TCGA-D9-A4Z5-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx D486B1EB-917D-4F21-8B9D-51D1F962B129 07157C0C-E999-48BF-865E-7AFE56A91202 g.chr2:97217113G>A ENST00000454558.2 + 7 1821 c.644G>A c.(643-645)gGg>gAg p.G215E ARID5A_ENST00000357485.3_Missense_Mutation_p.G283E Q03989 ARI5A_HUMAN AT rich interactive domain 5A (MRF1-like) 283 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus DNA binding endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|skin(1)|urinary_tract(2) 14 TGCCGCCATGGGGCAGAGCCC 0.652000 4 24 0 0 1 0 0 ZP2 7783 broad.mit.edu 37 16 21221024 21221024 + Silent SNP C C T rs150656642 TCGA-D9-A4Z5-01A-11D-A25O-08 TCGA-D9-A4Z5-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx D486B1EB-917D-4F21-8B9D-51D1F962B129 07157C0C-E999-48BF-865E-7AFE56A91202 g.chr16:21221024C>T ENST00000574002.1 - 5 740 c.258G>A c.(256-258)ccG>ccA p.P86P ZP2_ENST00000574091.1_Silent_p.P86P|ZP2_ENST00000219593.4_Silent_p.P86P Q05996 ZP2_HUMAN zona pellucida glycoprotein 2 (sperm receptor) 86 binding of sperm to zona pellucida|intracellular protein transport endoplasmic reticulum|Golgi apparatus|integral to membrane|multivesicular body|plasma membrane|proteinaceous extracellular matrix|stored secretory granule acrosin binding|coreceptor activity NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(16)|ovary(1)|prostate(1)|stomach(1) 41 GBM - Glioblastoma multiforme(48;0.0573) AAGTGCAGTTCGGCATGTCGA 0.498000 25 32 0 0 1 0 0 TRPM2 7226 broad.mit.edu 37 21 45815342 45815342 + Missense_Mutation SNP C C A TCGA-D9-A4Z5-01A-11D-A25O-08 TCGA-D9-A4Z5-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx D486B1EB-917D-4F21-8B9D-51D1F962B129 07157C0C-E999-48BF-865E-7AFE56A91202 g.chr21:45815342C>A ENST00000397928.1 + 12 2285 c.1840C>A c.(1840-1842)Cat>Aat p.H614N TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000300482.5_Missense_Mutation_p.H614N|TRPM2_ENST00000397932.2_Missense_Mutation_p.H614N|TRPM2_ENST00000300481.9_Missense_Mutation_p.H594N NM_003307.3 NP_003298.1 O94759 TRPM2_HUMAN transient receptor potential cation channel, subfamily M, member 2 614 integral to plasma membrane ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 76 TTCCTCAGGCCATGTGACCTT 0.597000 22 107 3.83957e-06 4.76636e-06 1 1 0 FCRLA 84824 broad.mit.edu 37 1 161681733 161681733 + Missense_Mutation SNP C C T TCGA-D9-A4Z5-01A-11D-A25O-08 TCGA-D9-A4Z5-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx D486B1EB-917D-4F21-8B9D-51D1F962B129 07157C0C-E999-48BF-865E-7AFE56A91202 g.chr1:161681733C>T ENST00000540926.1 + 5 820 c.527C>T c.(526-528)cCa>cTa p.P176L FCRLA_ENST00000540521.1_Missense_Mutation_p.P53L|FCRLA_ENST00000367949.2_Intron|FCRLA_ENST00000367950.1_Intron|FCRLA_ENST00000236938.6_Missense_Mutation_p.P187L|FCRLA_ENST00000367953.3_Missense_Mutation_p.P176L|FCRLA_ENST00000367957.2_Missense_Mutation_p.P47L|FCRLA_ENST00000367959.2_Missense_Mutation_p.P193L|FCRLA_ENST00000350710.3_Intron|FCRLA_ENST00000349527.4_Intron|FCRLA_ENST00000309691.6_Missense_Mutation_p.P81L|FCRLA_ENST00000294796.4_Missense_Mutation_p.P36L|FCRLA_ENST00000470841.1_3'UTR|FCRLA_ENST00000546024.1_Missense_Mutation_p.P98L Q7L513 FCRLA_HUMAN Fc receptor-like A 170 Ig-like C2-type 2. cell differentiation cytoplasm|extracellular region breast(1)|kidney(12)|large_intestine(4)|lung(13)|prostate(1)|skin(2)|stomach(1) 34 all_cancers(52;2.55e-15)|all_hematologic(112;0.0359) BRCA - Breast invasive adenocarcinoma(70;0.00301) GAACTGTTTCCAGCGCCAATT 0.517000 116 100 0 0 1 0 0 FAM161A 84140 broad.mit.edu 37 2 62054287 62054287 + Missense_Mutation SNP T T C TCGA-D9-A4Z5-01A-11D-A25O-08 TCGA-D9-A4Z5-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx D486B1EB-917D-4F21-8B9D-51D1F962B129 07157C0C-E999-48BF-865E-7AFE56A91202 g.chr2:62054287T>C ENST00000404929.1 - 6 1969 c.1958A>G c.(1957-1959)gAg>gGg p.E653G FAM161A_ENST00000405894.3_Missense_Mutation_p.E597G NM_001201543.1 NP_001188472.1 Q3B820 F161A_HUMAN family with sequence similarity 161, member A 597 Glu-rich. response to stimulus|visual perception centrosome breast(1)|endometrium(5)|large_intestine(8)|lung(4)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 GTTGAAGTACTCAAGTACTTT 0.348000 15 36 0 0 1 0 0 CCDC63 160762 broad.mit.edu 37 12 111336859 111336859 + Silent SNP C C T rs115748204 by1000genomes TCGA-D9-A4Z5-01A-11D-A25O-08 TCGA-D9-A4Z5-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx D486B1EB-917D-4F21-8B9D-51D1F962B129 07157C0C-E999-48BF-865E-7AFE56A91202 g.chr12:111336859C>T ENST00000308208.5 + 10 1514 c.1272C>T c.(1270-1272)gaC>gaT p.D424D CCDC63_ENST00000545036.1_Silent_p.D384D|CCDC63_ENST00000552694.1_Silent_p.D345D NM_152591.1 NP_689804.1 Q8NA47 CCD63_HUMAN coiled-coil domain containing 63 424 NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(1) 39 TAAACTGTGACGCCACCAAGA 0.498000 11 15 0 0 1 0 0 GRIK3 2899 broad.mit.edu 37 1 37271732 37271732 + Nonsense_Mutation SNP T T A TCGA-D9-A4Z5-01A-11D-A25O-08 TCGA-D9-A4Z5-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx D486B1EB-917D-4F21-8B9D-51D1F962B129 07157C0C-E999-48BF-865E-7AFE56A91202 g.chr1:37271732T>A ENST00000373091.3 - 14 2303 c.2287A>T c.(2287-2289)Aag>Tag p.K763* GRIK3_ENST00000373093.4_Nonsense_Mutation_p.K763* NM_000831.3 NP_000822.2 Q13003 GRIK3_HUMAN glutamate receptor, ionotropic, kainate 3 763 negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1) 89 Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169) L-Glutamic Acid(DB00142) CCGTAGCCCTTGGAGTCAATG 0.672000 8 46 0 0 1 0 0 PTPRD 5789 broad.mit.edu 37 9 8526635 8526635 + Missense_Mutation SNP G G T TCGA-D9-A4Z5-01A-11D-A25O-08 TCGA-D9-A4Z5-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx D486B1EB-917D-4F21-8B9D-51D1F962B129 07157C0C-E999-48BF-865E-7AFE56A91202 g.chr9:8526635G>T ENST00000381196.4 - 14 1103 c.560C>A c.(559-561)cCa>cAa p.P187Q PTPRD_ENST00000540109.1_Missense_Mutation_p.P187Q|PTPRD_ENST00000360074.4_Intron|PTPRD_ENST00000537002.1_Intron|PTPRD_ENST00000358503.5_Intron|PTPRD_ENST00000486161.1_Missense_Mutation_p.P187Q|PTPRD_ENST00000356435.5_Missense_Mutation_p.P187Q|PTPRD_ENST00000355233.5_Missense_Mutation_p.P187Q|PTPRD_ENST00000397606.3_Intron|PTPRD_ENST00000397611.3_Missense_Mutation_p.P184Q|PTPRD_ENST00000397617.3_Intron NM_002839.3 NP_002830.1 P23468 PTPRD_HUMAN protein tyrosine phosphatase, receptor type, D 187 Ig-like C2-type 2. transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 168 all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824) all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119) ACCTCTTATTGGTGTACCACC 0.398000 TSP Lung(15;0.13) 8 37 1.12685e-05 1.35222e-05 1 1 0 GDF10 2662 broad.mit.edu 37 10 48426603 48426603 + Silent SNP G G T TCGA-D9-A4Z5-01A-11D-A25O-08 TCGA-D9-A4Z5-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx D486B1EB-917D-4F21-8B9D-51D1F962B129 07157C0C-E999-48BF-865E-7AFE56A91202 g.chr10:48426603G>T ENST00000224605.2 - 3 1669 c.1404C>A c.(1402-1404)ccC>ccA p.P468P NM_004962.3 NP_004953.1 P55107 BMP3B_HUMAN growth differentiation factor 10 468 growth|skeletal system development|transforming growth factor beta receptor signaling pathway extracellular space cytokine activity|growth factor activity central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(20)|skin(1) 31 CGGACATGTTGGGGTACACCT 0.587000 OREG0020165 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 96 0.00116845 0.00128767 1 1 0 SLC9C2 284525 broad.mit.edu 37 1 173551109 173551109 + Nonsense_Mutation SNP C C A TCGA-D9-A4Z5-01A-11D-A25O-08 TCGA-D9-A4Z5-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx D486B1EB-917D-4F21-8B9D-51D1F962B129 07157C0C-E999-48BF-865E-7AFE56A91202 g.chr1:173551109C>A ENST00000367714.3 - 7 1101 c.679G>T c.(679-681)Gga>Tga p.G227* SLC9C2_ENST00000536496.1_Nonsense_Mutation_p.G125*|RP3-436N22.3_ENST00000431459.1_RNA NM_178527.3 NP_848622.2 Q5TAH2 S9A11_HUMAN solute carrier family 9, member C2 (putative) 227 sodium ion transport integral to membrane ion channel activity|solute:hydrogen antiporter activity ATTATGCTTCCCAAAATGTCA 0.299000 5 12 0.000602214 0.000677491 1 1 0 ABL2 27 broad.mit.edu 37 1 179078493 179078493 + Frame_Shift_Del DEL C C - TCGA-D9-A4Z5-01A-11D-A25O-08 TCGA-D9-A4Z5-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx D486B1EB-917D-4F21-8B9D-51D1F962B129 07157C0C-E999-48BF-865E-7AFE56A91202 g.chr1:179078493delC ENST00000502732.1 - 12 2112 c.1909delG c.(1909-1911)aafs p.E637fs ABL2_ENST00000504405.1_Frame_Shift_Del_p.E601fs|ABL2_ENST00000507173.1_Frame_Shift_Del_p.E616fs|ABL2_ENST00000408940.3_Frame_Shift_Del_p.E601fs|ABL2_ENST00000512653.1_Frame_Shift_Del_p.E622fs|ABL2_ENST00000367623.4_Frame_Shift_Del_p.E616fs|ABL2_ENST00000344730.3_Frame_Shift_Del_p.E622fs|ABL2_ENST00000511413.1_Frame_Shift_Del_p.E637fs NM_001168236.1|NM_001168237.1|NM_001168238.1|NM_007314.3 NP_001161708.1|NP_001161709.1|NP_001161710.1|NP_009298.1 P42684 ABL2_HUMAN c-abl oncogene 2, non-receptor tyrosine kinase 637 axon guidance|cell adhesion|peptidyl-tyrosine phosphorylation|positive regulation of oxidoreductase activity|signal transduction cytoskeleton|cytosol ATP binding|magnesium ion binding|manganese ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 65 Adenosine triphosphate(DB00171)|Dasatinib(DB01254) TTGGCATCTTCCAAGAGGCTG 0.542 T ETV6 AML 65 53 --- --- --- --- LOC101929950 101929950 broad.mit.edu 37 17 36412964 36412964 + Frame_Shift_Del DEL A A - TCGA-D9-A4Z5-01A-11D-A25O-08 TCGA-D9-A4Z5-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx D486B1EB-917D-4F21-8B9D-51D1F962B129 07157C0C-E999-48BF-865E-7AFE56A91202 g.chr17:36412964delA ENST00000312412.4 - 1 195 c.196delT c.(196-198)gcfs p.C66fs kidney(1)|lung(3) 4 GGCTTGAGGCAAAGGCTGCAG 0.706 2 4 --- --- --- --- FHOD3 80206 broad.mit.edu 37 18 34261459 34261460 + Frame_Shift_Del DEL AG AG - TCGA-D9-A4Z5-01A-11D-A25O-08 TCGA-D9-A4Z5-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx D486B1EB-917D-4F21-8B9D-51D1F962B129 07157C0C-E999-48BF-865E-7AFE56A91202 g.chr18:34261459_34261460delAG ENST00000257209.4 + 12 1493_1494 c.1371_1372delAG c.(1369-1374)gcagfs p.AE457fs FHOD3_ENST00000359247.4_Frame_Shift_Del_p.AE457fs|FHOD3_ENST00000590592.1_Frame_Shift_Del_p.AE632fs|FHOD3_ENST00000591635.1_Intron|FHOD3_ENST00000445677.1_Frame_Shift_Del_p.AE419fs NM_025135.2 NP_079411.2 Q2V2M9 FHOD3_HUMAN formin homology 2 domain containing 3 457 actin cytoskeleton organization cytoplasm|cytoskeleton actin binding NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1) 90 all_epithelial(2;0.0181)|Colorectal(2;0.0195) CACTGGCAGCAGAGAGAGAGAG 0.460 8 62 --- --- --- --- SEL1L2 80343 broad.mit.edu 37 20 13830156 13830156 + Frame_Shift_Del DEL A A - TCGA-D9-A4Z5-01A-11D-A25O-08 TCGA-D9-A4Z5-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx D486B1EB-917D-4F21-8B9D-51D1F962B129 07157C0C-E999-48BF-865E-7AFE56A91202 g.chr20:13830156delA ENST00000284951.5 - 20 2116 c.2042delT c.(2041-2043)tgfs p.L683fs SEL1L2_ENST00000378072.5_Frame_Shift_Del_p.L570fs|SEL1L2_ENST00000486903.1_5'UTR Q5TEA6 SE1L2_HUMAN sel-1 suppressor of lin-12-like 2 (C. elegans) 683 integral to membrane binding cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1) 51 TCTAAGCAACAAAATCAGCCC 0.473 29 22 --- --- --- ---