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 SKIL 6498 broad.mit.edu 37 3 170108972 170108972 + Nonsense_Mutation SNP T T A TCGA-D3-A51N-06A-11D-A25O-08 TCGA-D3-A51N-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx E6060B74-8D26-4958-BA90-E67190095211 DA260899-7399-4C79-BACD-7086CDBECC4F g.chr3:170108972T>A ENST00000458537.3 + 5 2529 c.1820T>A c.(1819-1821)tTg>tAg p.L607* SKIL_ENST00000413427.2_Nonsense_Mutation_p.L561*|SKIL_ENST00000426052.2_Nonsense_Mutation_p.L587*|SKIL_ENST00000259119.4_Nonsense_Mutation_p.L607* NM_001145097.2|NM_001248008.1|NM_005414.4 NP_001138569.1|NP_001234937.1|NP_005405.2 P12757 SKIL_HUMAN SKI-like oncogene 607 cell cycle arrest|negative regulation of cell differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of axonogenesis|protein heterotrimerization|protein homotrimerization|regulation of apoptosis|response to antibiotic|response to growth factor stimulus|skeletal muscle tissue development cytoplasm|PML body chromatin binding|nucleotide binding|protein complex binding|protein domain specific binding|SMAD binding|transcription corepressor activity|transcription repressor activity cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 25 all_cancers(22;7.13e-23)|all_epithelial(15;9.95e-28)|all_lung(20;1.23e-16)|Lung NSC(18;5.15e-16)|Ovarian(172;0.000337)|Breast(254;0.137) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197) GAGAAAAAATTGGAGCAGATA 0.333000 7 21 0 0 1 0 0 AMER1 139285 broad.mit.edu 37 X 63412221 63412221 + Missense_Mutation SNP C C T TCGA-D3-A51N-06A-11D-A25O-08 TCGA-D3-A51N-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx E6060B74-8D26-4958-BA90-E67190095211 DA260899-7399-4C79-BACD-7086CDBECC4F g.chrX:63412221C>T ENST00000330258.3 - 2 1218 c.946G>A c.(946-948)Gtg>Atg p.V316M AMER1_ENST00000403336.1_Missense_Mutation_p.V316M|AMER1_ENST00000374869.3_Missense_Mutation_p.V316M NM_152424.3 NP_689637.3 APC membrane recruitment protein 1 p.0?(67) AGGGATGTCACATCCCCAAAC 0.537000 4 122 0 0 1 0 0 CXADR 1525 broad.mit.edu 37 21 18919380 18919380 + Missense_Mutation SNP G G A TCGA-D3-A51N-06A-11D-A25O-08 TCGA-D3-A51N-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx E6060B74-8D26-4958-BA90-E67190095211 DA260899-7399-4C79-BACD-7086CDBECC4F g.chr21:18919380G>A ENST00000284878.7 + 2 827 c.79G>A c.(79-81)Gag>Aag p.E27K CXADR_ENST00000400166.1_Missense_Mutation_p.E27K|CXADR_ENST00000306618.10_Missense_Mutation_p.E27K|CXADR_ENST00000400165.1_Missense_Mutation_p.E27K|CXADR_ENST00000356275.6_Missense_Mutation_p.E27K|CXADR_ENST00000400169.1_Missense_Mutation_p.E27K NM_001338.4 NP_001329.1 P78310 CXAR_HUMAN coxsackie virus and adenovirus receptor 27 Ig-like C2-type 1. blood coagulation|cell adhesion|interspecies interaction between organisms|leukocyte migration|regulation of immune response adherens junction|basolateral plasma membrane|extracellular region|integral to plasma membrane|nucleus|tight junction receptor activity endometrium(2)|large_intestine(5)|lung(1)|ovary(1)|prostate(2) 11 Epithelial(23;0.000206)|all cancers(11;0.000302)|OV - Ovarian serous cystadenocarcinoma(11;0.0194)|Lung(58;0.0233)|COAD - Colon adenocarcinoma(22;0.0389)|Colorectal(24;0.0483)|LUSC - Lung squamous cell carcinoma(23;0.0782) TACTCCTGAAGAGATGATTGA 0.478000 22 46 0 0 1 0 0 ZNF622 90441 broad.mit.edu 37 5 16463621 16463621 + Missense_Mutation SNP A A T TCGA-D3-A51N-06A-11D-A25O-08 TCGA-D3-A51N-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx E6060B74-8D26-4958-BA90-E67190095211 DA260899-7399-4C79-BACD-7086CDBECC4F g.chr5:16463621A>T ENST00000308683.2 - 2 982 c.856T>A c.(856-858)Tca>Aca p.S286T NM_033414.2 NP_219482.1 Q969S3 ZN622_HUMAN zinc finger protein 622 286 cytoplasm|nucleus nucleic acid binding|zinc ion binding endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1) 25 TTAATATCTGAAAGATATTCT 0.373000 24 50 0 0 1 0 0 CNTNAP2 26047 broad.mit.edu 37 7 148080866 148080866 + Missense_Mutation SNP G G A TCGA-D3-A51N-06A-11D-A25O-08 TCGA-D3-A51N-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx E6060B74-8D26-4958-BA90-E67190095211 DA260899-7399-4C79-BACD-7086CDBECC4F g.chr7:148080866G>A ENST00000361727.3 + 22 4117 c.3601G>A c.(3601-3603)Gct>Act p.A1201T CNTNAP2_ENST00000463592.2_3'UTR|CNTNAP2_ENST00000538075.1_Missense_Mutation_p.A260T NM_014141.5 NP_054860.1 Q9UHC6 CNTP2_HUMAN contactin associated protein-like 2 1201 Laminin G-like 4. behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex receptor binding NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3) 188 Melanoma(164;0.153) all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794) OV - Ovarian serous cystadenocarcinoma(82;0.0319) AAACGCCTCGGCTCACGTCCA 0.632000 HNSCC(39;0.1) 43 26 0 0 1 0 0 OR52M1 119772 broad.mit.edu 37 11 4566966 4566966 + Silent SNP T T C TCGA-D3-A51N-06A-11D-A25O-08 TCGA-D3-A51N-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx E6060B74-8D26-4958-BA90-E67190095211 DA260899-7399-4C79-BACD-7086CDBECC4F g.chr11:4566966T>C ENST00000360213.1 + 1 546 c.546T>C c.(544-546)tgT>tgC p.C182C NM_001004137.1 NP_001004137.1 Q8NGK5 O52M1_HUMAN olfactory receptor, family 52, subfamily M, member 1 182 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(2)|lung(9)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 18 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19) ACTCCTACTGTGAGCACATGG 0.527000 33 67 0 0 1 0 0 EPPK1 83481 broad.mit.edu 37 8 144940288 144940288 + Missense_Mutation SNP G G T TCGA-D3-A51N-06A-11D-A25O-08 TCGA-D3-A51N-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx E6060B74-8D26-4958-BA90-E67190095211 DA260899-7399-4C79-BACD-7086CDBECC4F g.chr8:144940288G>T ENST00000525985.1 - 2 7205 c.7134C>A c.(7132-7134)gaC>gaA p.D2378E P58107 EPIPL_HUMAN epiplakin 1 2378 cytoplasm|cytoskeleton protein binding|structural molecule activity NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) CGTCGCTGGGGTCGGCCAGGA 0.687000 36 737 3.3946e-10 3.53703e-10 1 1 0 SLC6A17 388662 broad.mit.edu 37 1 110740831 110740831 + Missense_Mutation SNP C C T TCGA-D3-A51N-06A-11D-A25O-08 TCGA-D3-A51N-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx E6060B74-8D26-4958-BA90-E67190095211 DA260899-7399-4C79-BACD-7086CDBECC4F g.chr1:110740831C>T ENST00000331565.4 + 12 2434 c.1949C>T c.(1948-1950)aCc>aTc p.T650I NM_001010898.2 NP_001010898.1 Q9H1V8 S6A17_HUMAN solute carrier family 6 (neutral amino acid transporter), member 17 650 alanine transport|glycine transport|leucine transport|proline transport cell junction|integral to plasma membrane|synaptic vesicle membrane neurotransmitter:sodium symporter activity breast(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 37 all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233) Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151) GGCTCCAACACCCTCTCCGTG 0.597000 3 42 0 0 1 0 0 ATG7 10533 broad.mit.edu 37 3 11356956 11356956 + Missense_Mutation SNP C C A TCGA-D3-A51N-06A-11D-A25O-08 TCGA-D3-A51N-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx E6060B74-8D26-4958-BA90-E67190095211 DA260899-7399-4C79-BACD-7086CDBECC4F g.chr3:11356956C>A ENST00000354449.3 + 7 692 c.667C>A c.(667-669)Caa>Aaa p.Q223K ATG7_ENST00000354956.5_Missense_Mutation_p.Q223K|ATG7_ENST00000446450.2_Missense_Mutation_p.Q184K NM_006395.2 NP_006386.1 O95352 ATG7_HUMAN autophagy related 7 223 autophagy|cellular membrane fusion|positive regulation of protein modification process|protein lipidation|protein transport cytoplasm APG12 activating enzyme activity|protein homodimerization activity|ubiquitin activating enzyme activity central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(14)|prostate(1)|skin(2)|urinary_tract(1) 34 CTTCCAAGGTCAAAGGACGAA 0.343000 4 32 2.56e-06 2.6126e-06 1 1 0 FZD8 8325 broad.mit.edu 37 10 35930253 35930253 + Missense_Mutation SNP G G C TCGA-D3-A51N-06A-11D-A25O-08 TCGA-D3-A51N-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx E6060B74-8D26-4958-BA90-E67190095211 DA260899-7399-4C79-BACD-7086CDBECC4F g.chr10:35930253G>C ENST00000374694.1 - 1 109 c.105C>G c.(103-105)tgC>tgG p.C35W NM_031866.2 NP_114072.1 Q9H461 FZD8_HUMAN frizzled family receptor 8 35 FZ. axonogenesis|brain development|canonical Wnt receptor signaling pathway|embryo development|gonad development|T cell differentiation in thymus|vasculature development cell projection|Golgi apparatus|integral to membrane|plasma membrane G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1) 11 TGATCTCTTGGCATGCCAGCT 0.637000 14 39 0 0 1 0 0 PCDHB4 56131 broad.mit.edu 37 5 140503690 140503690 + Missense_Mutation SNP G G A TCGA-D3-A51N-06A-11D-A25O-08 TCGA-D3-A51N-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx E6060B74-8D26-4958-BA90-E67190095211 DA260899-7399-4C79-BACD-7086CDBECC4F g.chr5:140503690G>A ENST00000194152.1 + 1 2110 c.2110G>A c.(2110-2112)Gtg>Atg p.V704M NM_018938.2 NP_061761.1 Q9Y5E5 PCDB4_HUMAN 704 calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton calcium ion binding autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 67 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CCTCTTCTCGGTGCTCCTGTT 0.706000 20 292 0 0 1 0 0 SLC5A4 6527 broad.mit.edu 37 22 32647839 32647839 + Missense_Mutation SNP C C T TCGA-D3-A51N-06A-11D-A25O-08 TCGA-D3-A51N-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx E6060B74-8D26-4958-BA90-E67190095211 DA260899-7399-4C79-BACD-7086CDBECC4F g.chr22:32647839C>T ENST00000266086.4 - 3 241 c.230G>A c.(229-231)aGt>aAt p.S77N RP1-90G24.10_ENST00000434942.1_RNA NM_014227.2 NP_055042.1 Q9NY91 SC5A4_HUMAN solute carrier family 5 (glucose activated ion channel), member 4 77 carbohydrate transport|sodium ion transport integral to membrane symporter activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|pancreas(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 GCCGATGTTACTGGCAAAGAG 0.488000 13 42 0 0 1 0 0 INSRR 3645 broad.mit.edu 37 1 156814331 156814331 + Missense_Mutation SNP G G A TCGA-D3-A51N-06A-11D-A25O-08 TCGA-D3-A51N-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx E6060B74-8D26-4958-BA90-E67190095211 DA260899-7399-4C79-BACD-7086CDBECC4F g.chr1:156814331G>A ENST00000368195.3 - 14 3056 c.2660C>T c.(2659-2661)tCt>tTt p.S887F NTRK1_ENST00000392302.2_Intron NM_014215.2 NP_055030.1 P14616 INSRR_HUMAN insulin receptor-related receptor 887 Fibronectin type-III 3. protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity p.S887C(2) breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2) 42 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) AACCCTGGCAGAGTAGTTTCC 0.572000 14 28 0 0 1 0 0 SLC22A3 6581 broad.mit.edu 37 6 160858126 160858126 + Missense_Mutation SNP C C G TCGA-D3-A51N-06A-11D-A25O-08 TCGA-D3-A51N-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx E6060B74-8D26-4958-BA90-E67190095211 DA260899-7399-4C79-BACD-7086CDBECC4F g.chr6:160858126C>G ENST00000392145.1 + 7 1198 c.1171C>G c.(1171-1173)Ctg>Gtg p.L391V SLC22A3_ENST00000275300.2_Missense_Mutation_p.L391V O75751 S22A3_HUMAN solute carrier family 22 (organic cation transporter), member 3 391 integral to plasma membrane|membrane fraction protein binding|quaternary ammonium group transmembrane transporter activity NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 27 Breast(66;0.00028)|Ovarian(120;0.0308)|Prostate(117;0.218) OV - Ovarian serous cystadenocarcinoma(65;9.47e-17)|BRCA - Breast invasive adenocarcinoma(81;9.75e-06) CGTGGTGGAACTGCCAGGAGC 0.532000 4 87 0 0 1 0 0 PTGER3 5733 broad.mit.edu 37 1 71478001 71478001 + Missense_Mutation SNP C C T TCGA-D3-A51N-06A-11D-A25O-08 TCGA-D3-A51N-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx E6060B74-8D26-4958-BA90-E67190095211 DA260899-7399-4C79-BACD-7086CDBECC4F g.chr1:71478001C>T ENST00000370924.4 - 2 1294 c.1064G>A c.(1063-1065)cGa>cAa p.R355Q PTGER3_ENST00000306666.5_Missense_Mutation_p.R355Q|PTGER3_ENST00000460330.1_Missense_Mutation_p.R355Q|PTGER3_ENST00000351052.5_Missense_Mutation_p.R355Q|PTGER3_ENST00000354608.5_Missense_Mutation_p.R355Q|PTGER3_ENST00000414819.1_Missense_Mutation_p.R355Q|PTGER3_ENST00000370932.2_Missense_Mutation_p.R355Q|PTGER3_ENST00000356595.4_Missense_Mutation_p.R355Q|PTGER3_ENST00000370931.3_Missense_Mutation_p.R355Q NM_198715.2 NP_942008.1 P43115 PE2R3_HUMAN prostaglandin E receptor 3 (subtype EP3) 355 cell death|positive regulation of fever generation|transcription, DNA-dependent integral to plasma membrane|nuclear envelope ligand-dependent nuclear receptor activity|prostaglandin E receptor activity endometrium(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 25 Bimatoprost(DB00905) GCAAAACTTTCGAAGAAGGAT 0.423000 13 28 0 0 1 0 0 IL7R 3575 broad.mit.edu 37 5 35876476 35876476 + Missense_Mutation SNP C C T TCGA-D3-A51N-06A-11D-A25O-08 TCGA-D3-A51N-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx E6060B74-8D26-4958-BA90-E67190095211 DA260899-7399-4C79-BACD-7086CDBECC4F g.chr5:35876476C>T ENST00000303115.3 + 8 1397 c.1268C>T c.(1267-1269)tCt>tTt p.S423F IL7R_ENST00000343305.4_3'UTR NM_002185.3 NP_002176.2 P16871 IL7RA_HUMAN interleukin 7 receptor 423 immune response|regulation of DNA recombination extracellular region|integral to membrane antigen binding|interleukin-7 receptor activity NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3) 126 all_lung(31;0.00015) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202) TCTCTCCAATCTGGAATCCTG 0.512000 """Mis, O""" """ALL, ETP ALL""" Severe combined immune deficiency 18 22 0 0 1 0 0 UGT2B15 7366 broad.mit.edu 37 4 69520892 69520892 + Nonsense_Mutation SNP C C T TCGA-D3-A51N-06A-11D-A25O-08 TCGA-D3-A51N-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx E6060B74-8D26-4958-BA90-E67190095211 DA260899-7399-4C79-BACD-7086CDBECC4F g.chr4:69520892C>T ENST00000338206.5 - 4 1023 c.1014G>A c.(1012-1014)tgG>tgA p.W338* NM_001076.3 NP_001067.2 P54855 UDB15_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B15 338 steroid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity CATCAAATCTCCATAGAACCT 0.358000 9 72 0 0 1 0 0 NBPF1 55672 broad.mit.edu 37 1 16918653 16918653 + Splice_Site SNP C C T TCGA-D3-A51N-06A-11D-A25O-08 TCGA-D3-A51N-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx E6060B74-8D26-4958-BA90-E67190095211 DA260899-7399-4C79-BACD-7086CDBECC4F g.chr1:16918653C>T ENST00000430580.2 - 6 853 c.e6+1 NM_017940.3 NP_060410.2 Q3BBV0 NBPF1_HUMAN neuroblastoma breakpoint family, member 1 cytoplasm UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179) TCTTAACTTACTGTTGTGAAA 0.418000 3 33 0 0 1 0 0 PGAM4 441531 broad.mit.edu 37 X 77224485 77224485 + Silent SNP G G A TCGA-D3-A51N-06A-11D-A25O-08 TCGA-D3-A51N-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx E6060B74-8D26-4958-BA90-E67190095211 DA260899-7399-4C79-BACD-7086CDBECC4F g.chrX:77224485G>A ENST00000458128.1 - 1 650 c.651C>T c.(649-651)gtC>gtT p.V217V ATP7A_ENST00000350425.4_Intron|ATP7A_ENST00000343533.5_Intron|ATP7A_ENST00000341514.6_Intron NM_001029891.2 NP_001025062.1 Q8N0Y7 PGAM4_HUMAN phosphoglycerate mutase family member 4 217 glycolysis 2,3-bisphospho-D-glycerate 2-phosphohydrolase activity|bisphosphoglycerate mutase activity|phosphoglycerate mutase activity endometrium(2)|lung(4) 6 CCAATTCATAGACGATGGGAA 0.542000 30 84 0 0 1 0 0 SHROOM2 357 broad.mit.edu 37 X 9862879 9862879 + Missense_Mutation SNP C C T TCGA-D3-A51N-06A-11D-A25O-08 TCGA-D3-A51N-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx E6060B74-8D26-4958-BA90-E67190095211 DA260899-7399-4C79-BACD-7086CDBECC4F g.chrX:9862879C>T ENST00000380913.3 + 4 1021 c.931C>T c.(931-933)Cca>Tca p.P311S NM_001649.2 NP_001640.1 Q13796 SHRM2_HUMAN shroom family member 2 311 apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization apical plasma membrane|cell-cell adherens junction|microtubule|tight junction actin filament binding|beta-catenin binding|ligand-gated sodium channel activity breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2) 57 Hepatocellular(5;0.000888) GAAGAAAGCACCATCATCCCC 0.617000 10 26 0 0 1 0 0 OR5I1 10798 broad.mit.edu 37 11 55703685 55703685 + Silent SNP G G A TCGA-D3-A51N-06A-11D-A25O-08 TCGA-D3-A51N-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx E6060B74-8D26-4958-BA90-E67190095211 DA260899-7399-4C79-BACD-7086CDBECC4F g.chr11:55703685G>A ENST00000301532.3 - 1 191 c.192C>T c.(190-192)ttC>ttT p.F64F NM_006637.1 NP_006628.1 Q13606 OR5I1_HUMAN olfactory receptor, family 5, subfamily I, member 1 64 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(34)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 52 GGTTGCTAAGGAAAAAATACA 0.373000 11 28 0 0 1 0 0 MARK2 2011 broad.mit.edu 37 11 63666126 63666126 + Silent SNP C C A TCGA-D3-A51N-06A-11D-A25O-08 TCGA-D3-A51N-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx E6060B74-8D26-4958-BA90-E67190095211 DA260899-7399-4C79-BACD-7086CDBECC4F g.chr11:63666126C>A ENST00000402010.2 + 5 963 c.384C>A c.(382-384)gtC>gtA p.V128V MARK2_ENST00000408948.3_Silent_p.V95V|MARK2_ENST00000509502.2_Silent_p.V95V|MARK2_ENST00000508192.1_Silent_p.V128V|MARK2_ENST00000502399.3_Silent_p.V128V|MARK2_ENST00000350490.7_Silent_p.V128V|MARK2_ENST00000315032.8_Silent_p.V128V|MARK2_ENST00000377810.3_Silent_p.V95V|MARK2_ENST00000413835.2_Silent_p.V128V|MARK2_ENST00000425897.2_Silent_p.V95V|MARK2_ENST00000361128.5_Silent_p.V128V|MARK2_ENST00000377809.4_Silent_p.V128V|MARK2_ENST00000513765.2_Silent_p.V95V NM_001039469.2 NP_001034558.2 Q7KZI7 MARK2_HUMAN MAP/microtubule affinity-regulating kinase 2 128 Protein kinase. cell differentiation|establishment or maintenance of epithelial cell apical/basal polarity|intracellular protein kinase cascade|multicellular organismal development|response to oxidative stress plasma membrane ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 33 TCTACCTTGTCATGGAGTACG 0.502000 27 38 8.16721e-17 8.6306e-17 1 1 0 MUC16 94025 broad.mit.edu 37 19 9067504 9067504 + Nonsense_Mutation SNP C C A TCGA-D3-A51N-06A-11D-A25O-08 TCGA-D3-A51N-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx E6060B74-8D26-4958-BA90-E67190095211 DA260899-7399-4C79-BACD-7086CDBECC4F g.chr19:9067504C>A ENST00000397910.4 - 3 20145 c.19942G>T c.(19942-19944)Gag>Tag p.E6648* NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 6650 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 GACTCCATCTCAATCCTTGTA 0.498000 24 45 1.96895e-08 2.03731e-08 1 1 0 EEF1B2 1933 broad.mit.edu 37 2 207025366 207025366 + Silent SNP G G A TCGA-D3-A51N-06A-11D-A25O-08 TCGA-D3-A51N-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx E6060B74-8D26-4958-BA90-E67190095211 DA260899-7399-4C79-BACD-7086CDBECC4F g.chr2:207025366G>A ENST00000392222.2 + 2 510 c.135G>A c.(133-135)ccG>ccA p.P45P EEF1B2_ENST00000236957.5_Silent_p.P45P|EEF1B2_ENST00000392221.1_Silent_p.P45P NM_001959.3 NP_001950.1 P24534 EF1B_HUMAN eukaryotic translation elongation factor 1 beta 2 45 GST C-terminal. cytosol|eukaryotic translation elongation factor 1 complex protein binding|translation elongation factor activity p.P45P(5) breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6) 16 CCAGCCCACCGCCTGCCGACT 0.448000 3 61 0 0 1 0 0 PDIA2 64714 broad.mit.edu 37 16 335423 335423 + Missense_Mutation SNP C C T TCGA-D3-A51N-06A-11D-A25O-08 TCGA-D3-A51N-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx E6060B74-8D26-4958-BA90-E67190095211 DA260899-7399-4C79-BACD-7086CDBECC4F g.chr16:335423C>T ENST00000219406.6 + 6 925 c.907C>T c.(907-909)Cgc>Tgc p.R303C PDIA2_ENST00000404312.1_Missense_Mutation_p.R300C|PDIA2_ENST00000462950.1_3'UTR NM_006849.2 NP_006840.2 Q13087 PDIA2_HUMAN protein disulfide isomerase family A, member 2 303 apoptosis|cell redox homeostasis|glycerol ether metabolic process|protein folding|protein retention in ER lumen|response to hypoxia endoplasmic reticulum lumen electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity|steroid binding p.R303C(1) breast(1)|central_nervous_system(4)|kidney(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 17 all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186) GGCAGCTCCCCGCTTCCGGGG 0.677000 4 17 0 0 1 0 0 FRG1B 284802 broad.mit.edu 37 20 29625941 29625941 + Missense_Mutation SNP A A T TCGA-D3-A51N-06A-11D-A25O-08 TCGA-D3-A51N-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx E6060B74-8D26-4958-BA90-E67190095211 DA260899-7399-4C79-BACD-7086CDBECC4F g.chr20:29625941A>T ENST00000278882.3 + 5 565 c.185A>T c.(184-186)gAt>gTt p.D62V FRG1B_ENST00000439954.2_Missense_Mutation_p.D67V|FRG1B_ENST00000358464.4_Missense_Mutation_p.D62V p.D62V(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GGGCATTCAGATGCAATTGGA 0.333000 5 57 0 0 1 0 0 APCS 325 broad.mit.edu 37 1 159558215 159558215 + Missense_Mutation SNP G G A TCGA-D3-A51N-06A-11D-A25O-08 TCGA-D3-A51N-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx E6060B74-8D26-4958-BA90-E67190095211 DA260899-7399-4C79-BACD-7086CDBECC4F g.chr1:159558215G>A ENST00000255040.2 + 2 486 c.389G>A c.(388-390)gGg>gAg p.G130E NM_001639.3 NP_001630.1 P02743 SAMP_HUMAN amyloid P component, serum 130 Pentaxin. acute-phase response|chaperone-mediated protein complex assembly|protein folding extracellular space metal ion binding|sugar binding|unfolded protein binding breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(2) 20 all_hematologic(112;0.0429) TGGATCAATGGGACACCTTTG 0.483000 18 21 0 0 1 0 0 BAGE2 85319 broad.mit.edu 37 21 11098863 11098863 + RNA SNP A A G rs75318310 by1000genomes TCGA-D3-A51N-06A-11D-A25O-08 TCGA-D3-A51N-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx E6060B74-8D26-4958-BA90-E67190095211 DA260899-7399-4C79-BACD-7086CDBECC4F g.chr21:11098863A>G ENST00000470054.1 - 0 62 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) ccagcctccaactcccccttc 0.627000 6 21 0 0 1 0 0 CUX1 1523 broad.mit.edu 37 7 101740668 101740668 + Missense_Mutation SNP G G A TCGA-D3-A51N-06A-11D-A25O-08 TCGA-D3-A51N-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx E6060B74-8D26-4958-BA90-E67190095211 DA260899-7399-4C79-BACD-7086CDBECC4F g.chr7:101740668G>A ENST00000360264.3 + 5 346 c.326G>A c.(325-327)gGa>gAa p.G109E CUX1_ENST00000393824.3_Missense_Mutation_p.G72E|CUX1_ENST00000292535.7_Missense_Mutation_p.G98E|CUX1_ENST00000292538.4_Missense_Mutation_p.G109E|CUX1_ENST00000550008.2_Missense_Mutation_p.G98E|CUX1_ENST00000549414.2_Missense_Mutation_p.G98E|CUX1_ENST00000547394.2_Missense_Mutation_p.G93E|CUX1_ENST00000546411.2_Missense_Mutation_p.G98E|CUX1_ENST00000425244.2_Intron|CUX1_ENST00000560541.1_3'UTR|CUX1_ENST00000437600.4_Missense_Mutation_p.G109E|CUX1_ENST00000556210.1_Missense_Mutation_p.G98E NM_001202543.1 NP_001189472.1 P39880 CUX1_HUMAN cut-like homeobox 1 98 negative regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5) 70 TTGGATCTCGGACAGCAACTC 0.522000 22 45 0 0 1 0 0 DSCAM 1826 broad.mit.edu 37 21 41385074 41385074 + Missense_Mutation SNP C C T TCGA-D3-A51N-06A-11D-A25O-08 TCGA-D3-A51N-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx E6060B74-8D26-4958-BA90-E67190095211 DA260899-7399-4C79-BACD-7086CDBECC4F g.chr21:41385074C>T ENST00000400454.1 - 33 6403 c.5926G>A c.(5926-5928)Gga>Aga p.G1976R NM_001389.3 NP_001380.2 O60469 DSCAM_HUMAN Down syndrome cell adhesion molecule 1976 HRPGDLIHLPPYLRMDFLLNRGGPGTSRDLSLGQACLEPQK SRTLKRPTVLEPIPMEAASSASSTREGQSWQPGAVATLPQR EGAELGQAAKMSSSQESLLDSRGHLKGNNPYAKSYTLV -> IGQVTSYICLHTLEWTFC (in Ref. 1; AAC17966). cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction protein binding NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4) 142 all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103) AGCTCTGCTCCCTCCCGCTGA 0.597000 5 28 0 0 1 0 0 SLC36A2 153201 broad.mit.edu 37 5 150722469 150722469 + Silent SNP C C T TCGA-D3-A51N-06A-11D-A25O-08 TCGA-D3-A51N-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx E6060B74-8D26-4958-BA90-E67190095211 DA260899-7399-4C79-BACD-7086CDBECC4F g.chr5:150722469C>T ENST00000335244.4 - 4 549 c.420G>A c.(418-420)caG>caA p.Q140Q SLC36A2_ENST00000521967.1_Silent_p.Q140Q NM_181776.2 NP_861441.2 Q495M3 S36A2_HUMAN solute carrier family 36 (proton/amino acid symporter), member 2 140 cellular nitrogen compound metabolic process cytoplasm|integral to membrane|plasma membrane glycine transmembrane transporter activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(14)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 33 Medulloblastoma(196;0.109)|all_hematologic(541;0.243) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) GAGCGTGATTCTGGAGCCAGG 0.537000 7 30 0 0 1 0 0 TOB2 10766 broad.mit.edu 37 22 41832983 41832983 + Missense_Mutation SNP G G A TCGA-D3-A51N-06A-11D-A25O-08 TCGA-D3-A51N-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx E6060B74-8D26-4958-BA90-E67190095211 DA260899-7399-4C79-BACD-7086CDBECC4F g.chr22:41832983G>A ENST00000327492.3 - 2 1073 c.367C>T c.(367-369)Cca>Tca p.P123S NM_016272.3 NP_057356.1 Q14106 TOB2_HUMAN transducer of ERBB2, 2 123 female gamete generation|negative regulation of cell proliferation cytoplasm|nucleus cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 10 TCCAGCTCTGGGGCACCGCAA 0.577000 21 38 0 0 1 0 0 KEL 3792 broad.mit.edu 37 7 142658514 142658514 + Silent SNP G G A TCGA-D3-A51N-06A-11D-A25O-08 TCGA-D3-A51N-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx E6060B74-8D26-4958-BA90-E67190095211 DA260899-7399-4C79-BACD-7086CDBECC4F g.chr7:142658514G>A ENST00000355265.2 - 3 630 c.156C>T c.(154-156)atC>atT p.I52I KEL_ENST00000479768.2_5'UTR NM_000420.2 NP_000411.1 P23276 KELL_HUMAN Kell blood group, metallo-endopeptidase 52 proteolysis|vasoconstriction integral to membrane|plasma membrane metal ion binding|metalloendopeptidase activity|protein binding central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1) 60 Melanoma(164;0.059) CCAAAATCAGGATAGCTGTCA 0.552000 11 19 0 0 1 0 0 PTCHD2 57540 broad.mit.edu 37 1 11562762 11562762 + Missense_Mutation SNP C C T TCGA-D3-A51N-06A-11D-A25O-08 TCGA-D3-A51N-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx E6060B74-8D26-4958-BA90-E67190095211 DA260899-7399-4C79-BACD-7086CDBECC4F g.chr1:11562762C>T ENST00000294484.6 + 3 1262 c.1124C>T c.(1123-1125)cCt>cTt p.P375L PTCHD2_ENST00000389575.3_Missense_Mutation_p.P375L NM_020780.1 NP_065831.1 Q9P2K9 PTHD2_HUMAN patched domain containing 2 375 cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway endoplasmic reticulum|integral to membrane|nuclear membrane hedgehog receptor activity NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 76 Ovarian(185;0.249) Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549) ATGACTCACCCTGAGTTCTAC 0.597000 7 27 0 0 1 0 0 MYH8 4626 broad.mit.edu 37 17 10303993 10303993 + Missense_Mutation SNP C C T TCGA-D3-A51N-06A-11D-A25O-08 TCGA-D3-A51N-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx E6060B74-8D26-4958-BA90-E67190095211 DA260899-7399-4C79-BACD-7086CDBECC4F g.chr17:10303993C>T ENST00000403437.2 - 27 3543 c.3449G>A c.(3448-3450)aGc>aAc p.S1150N CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA NM_002472.2 NP_002463.2 P13535 MYH8_HUMAN myosin, heavy chain 8, skeletal muscle, perinatal 1150 muscle filament sliding cytosol|muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2) 134 CAGCCTCTCGCTGATCTCCTC 0.602000 Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling 28 102 0 0 1 0 0 APBA2 321 broad.mit.edu 37 15 29346493 29346493 + Missense_Mutation SNP G G C TCGA-D3-A51N-06A-11D-A25O-08 TCGA-D3-A51N-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx E6060B74-8D26-4958-BA90-E67190095211 DA260899-7399-4C79-BACD-7086CDBECC4F g.chr15:29346493G>C ENST00000558402.1 + 5 1005 c.406G>C c.(406-408)Gag>Cag p.E136Q APBA2_ENST00000561069.1_Missense_Mutation_p.E136Q|APBA2_ENST00000558330.1_Missense_Mutation_p.E136Q|APBA2_ENST00000558259.1_Missense_Mutation_p.E136Q|APBA2_ENST00000411764.1_Missense_Mutation_p.E136Q Q99767 APBA2_HUMAN amyloid beta (A4) precursor protein-binding, family A, member 2 136 nervous system development|protein transport protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1) 59 all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234) all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24) TGAGTGCCAGGAGGCGGTGGA 0.662000 6 47 0 0 1 0 0 TSHZ1 10194 broad.mit.edu 37 18 72997587 72997587 + Silent SNP G G A TCGA-D3-A51N-06A-11D-A25O-08 TCGA-D3-A51N-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx E6060B74-8D26-4958-BA90-E67190095211 DA260899-7399-4C79-BACD-7086CDBECC4F g.chr18:72997587G>A ENST00000322038.5 + 2 674 c.90G>A c.(88-90)ggG>ggA p.G30G TSHZ1_ENST00000580243.1_Silent_p.G75G NM_005786.5 NP_005777.3 Q6ZSZ6 TSH1_HUMAN teashirt zinc finger homeobox 1 75 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2) 42 Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211) Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246) CCGGCTACGGGTCGCCCTTCA 0.567000 17 23 0 0 1 0 0 DNAH9 1770 broad.mit.edu 37 17 11539984 11539984 + Missense_Mutation SNP C C T TCGA-D3-A51N-06A-11D-A25O-08 TCGA-D3-A51N-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx E6060B74-8D26-4958-BA90-E67190095211 DA260899-7399-4C79-BACD-7086CDBECC4F g.chr17:11539984C>T ENST00000262442.3 + 9 1737 c.1669C>T c.(1669-1671)Ccg>Tcg p.P557S DNAH9_ENST00000454412.2_Missense_Mutation_p.P557S NM_001372.3 NP_001363.2 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 557 Stem (By similarity). cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4) 290 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) CCTTGAAAGACCGCTGGTAGC 0.433000 4 28 0 0 1 0 0 GALNT10 55568 broad.mit.edu 37 5 153789237 153789237 + Missense_Mutation SNP G G C TCGA-D3-A51N-06A-11D-A25O-08 TCGA-D3-A51N-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx E6060B74-8D26-4958-BA90-E67190095211 DA260899-7399-4C79-BACD-7086CDBECC4F g.chr5:153789237G>C ENST00000297107.6 + 9 1438 c.1301G>C c.(1300-1302)aGt>aCt p.S434T SAP30L-AS1_ENST00000519727.1_RNA|GALNT10_ENST00000377661.2_Missense_Mutation_p.S372T|GALNT10_ENST00000377657.3_Missense_Mutation_p.S107T|SAP30L-AS1_ENST00000524264.1_RNA NM_198321.3 NP_938080.1 Q86SR1 GLT10_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 10 (GalNAc-T10) 434 Golgi membrane|integral to membrane metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 32 Renal(175;0.00488) Medulloblastoma(196;0.0354)|all_neural(177;0.147)|all_hematologic(541;0.21) Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577) aactgcaagagtttcaagtgg 0.587000 51 98 0 0 1 0 0 MYPN 84665 broad.mit.edu 37 10 69881855 69881855 + Silent SNP G G A TCGA-D3-A51N-06A-11D-A25O-08 TCGA-D3-A51N-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx E6060B74-8D26-4958-BA90-E67190095211 DA260899-7399-4C79-BACD-7086CDBECC4F g.chr10:69881855G>A ENST00000358913.5 + 2 1148 c.660G>A c.(658-660)agG>agA p.R220R MYPN_ENST00000540630.1_Silent_p.R220R|MYPN_ENST00000354393.2_Intron|MYPN_ENST00000373675.3_Silent_p.R220R NM_001256267.1|NM_032578.3 NP_001243196.1|NP_115967.2 Q86TC9 MYPN_HUMAN myopalladin 220 Interaction with CARP. nucleus|sarcomere actin binding breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5) 94 CGGATACCAGGGATAATGAAG 0.522000 10 13 0 0 1 0 0 SYT2 127833 broad.mit.edu 37 1 202569531 202569531 + Missense_Mutation SNP G G C TCGA-D3-A51N-06A-11D-A25O-08 TCGA-D3-A51N-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx E6060B74-8D26-4958-BA90-E67190095211 DA260899-7399-4C79-BACD-7086CDBECC4F g.chr1:202569531G>C ENST00000367267.1 - 7 1065 c.873C>G c.(871-873)atC>atG p.I291M SYT2_ENST00000367268.4_Missense_Mutation_p.I291M NM_001136504.1 NP_001129976.1 Q8N9I0 SYT2_HUMAN synaptotagmin II 291 C2 2.|Phospholipid binding (By similarity). neurotransmitter secretion cell junction|chromaffin granule membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane protein binding|transporter activity NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|ovary(2)|skin(2)|urinary_tract(1) 29 BRCA - Breast invasive adenocarcinoma(75;0.169) Botulinum Toxin Type B(DB00042) TAGCCTCCAGGATGCAGACAG 0.622000 OREG0014101 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 30 57 0 0 1 0 0 DZIP3 9666 broad.mit.edu 37 3 108380784 108380784 + Nonsense_Mutation SNP C C T TCGA-D3-A51N-06A-11D-A25O-08 TCGA-D3-A51N-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx E6060B74-8D26-4958-BA90-E67190095211 DA260899-7399-4C79-BACD-7086CDBECC4F g.chr3:108380784C>T ENST00000361582.3 + 20 2490 c.2260C>T c.(2260-2262)Caa>Taa p.Q754* DZIP3_ENST00000463306.1_Nonsense_Mutation_p.Q754* NM_014648.3 NP_055463.1 Q86Y13 DZIP3_HUMAN DAZ interacting zinc finger protein 3 754 protein polyubiquitination cytoplasm polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1) 45 GCTTGCTCGTCAAAGGCAGCT 0.368000 13 26 0 0 1 0 0 CTBP2 1488 broad.mit.edu 37 10 126714720 126714720 + Missense_Mutation SNP G G A TCGA-D3-A51N-06A-11D-A25O-08 TCGA-D3-A51N-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx E6060B74-8D26-4958-BA90-E67190095211 DA260899-7399-4C79-BACD-7086CDBECC4F g.chr10:126714720G>A ENST00000309035.6 - 1 1739 c.1609C>T c.(1609-1611)Ccg>Tcg p.P537S CTBP2_ENST00000411419.2_Intron|CTBP2_ENST00000337195.5_Intron|CTBP2_ENST00000531469.1_Intron|CTBP2_ENST00000494626.2_Intron NM_022802.2 NP_073713.2 P56545 CTBP2_HUMAN C-terminal binding protein 2 0 negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent|viral genome replication|white fat cell differentiation cell junction|synapse|transcriptional repressor complex NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding p.P537S(1) breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 25 all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173) Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147) TTCTGGTACGGTGAGTGAGGC 0.677000 36 43 0 0 1 0 0 TNS4 84951 broad.mit.edu 37 17 38645149 38645149 + Missense_Mutation SNP G G A TCGA-D3-A51N-06A-11D-A25O-08 TCGA-D3-A51N-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx E6060B74-8D26-4958-BA90-E67190095211 DA260899-7399-4C79-BACD-7086CDBECC4F g.chr17:38645149G>A ENST00000254051.6 - 3 670 c.512C>T c.(511-513)tCt>tTt p.S171F NM_032865.5 NP_116254.4 Q8IZW8 TENS4_HUMAN tensin 4 171 Ser-rich. apoptosis|protein localization cytoplasm|cytoskeleton|focal adhesion actin binding NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(1) 30 Breast(137;0.000496) STAD - Stomach adenocarcinoma(5;5.91e-05) CGGGGTGACAGAGGGGCTGGA 0.597000 41 49 0 0 1 0 0 FLG 2312 broad.mit.edu 37 1 152283968 152283968 + Missense_Mutation SNP C C G TCGA-D3-A51N-06A-11D-A25O-08 TCGA-D3-A51N-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx E6060B74-8D26-4958-BA90-E67190095211 DA260899-7399-4C79-BACD-7086CDBECC4F g.chr1:152283968C>G ENST00000368799.1 - 3 3429 c.3394G>C c.(3394-3396)Ggg>Cgg p.G1132R FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 1132 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) CTGGTCCGCCCATGGGCAGAC 0.597000 Ichthyosis 5 328 0 0 1 0 0 OR13D1 286365 broad.mit.edu 37 9 107457571 107457571 + Missense_Mutation SNP T T G TCGA-D3-A51N-06A-11D-A25O-08 TCGA-D3-A51N-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx E6060B74-8D26-4958-BA90-E67190095211 DA260899-7399-4C79-BACD-7086CDBECC4F g.chr9:107457571T>G ENST00000318763.5 + 1 912 c.869T>G c.(868-870)aTg>aGg p.M290R NM_001004484.1 NP_001004484.1 Q8NGV5 O13D1_HUMAN olfactory receptor, family 13, subfamily D, member 1 290 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(4)|lung(10)|ovary(1)|prostate(2)|skin(2) 19 GCCCTTTTTATGTACATGAAA 0.408000 32 30 0 0 1 0 0 MICB 4277 broad.mit.edu 37 6 31475299 31475299 + Nonsense_Mutation SNP G G T TCGA-D3-A51N-06A-11D-A25O-08 TCGA-D3-A51N-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx E6060B74-8D26-4958-BA90-E67190095211 DA260899-7399-4C79-BACD-7086CDBECC4F g.chr6:31475299G>T ENST00000252229.6 + 5 1094 c.1015G>T c.(1015-1017)Gag>Tag p.E339* MICB_ENST00000538442.1_Nonsense_Mutation_p.E307*|MICB_ENST00000399150.3_Nonsense_Mutation_p.E296* NM_005931.3 NP_005922.2 Q29980 MICB_HUMAN MHC class I polypeptide-related sequence B 339 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 ATCAGCGGCAGAGGGTCCAGG 0.468000 10 36 3.03607e-14 3.18574e-14 1 1 0 CSAG4 100130935 broad.mit.edu 37 X 151896614 151896614 + RNA SNP C C A TCGA-D3-A51N-06A-11D-A25O-08 TCGA-D3-A51N-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx E6060B74-8D26-4958-BA90-E67190095211 DA260899-7399-4C79-BACD-7086CDBECC4F g.chrX:151896614C>A ENST00000361201.4 - 0 326 NR_073432.1 endometrium(2)|kidney(2)|lung(1) 5 TCGTGGTTTCCTGGACATCTT 0.567000 4 158 0.184627 0.184627 1 1 0 TTC16 158248 broad.mit.edu 37 9 130482589 130482589 + Missense_Mutation SNP C C T TCGA-D3-A51N-06A-11D-A25O-08 TCGA-D3-A51N-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx E6060B74-8D26-4958-BA90-E67190095211 DA260899-7399-4C79-BACD-7086CDBECC4F g.chr9:130482589C>T ENST00000373289.3 + 6 652 c.572C>T c.(571-573)aCg>aTg p.T191M TTC16_ENST00000393748.4_Missense_Mutation_p.T15M|PTRH1_ENST00000429848.1_Intron|TTC16_ENST00000489226.1_3'UTR|PTRH1_ENST00000419060.1_Intron NM_144965.1 NP_659402.1 Q8NEE8 TTC16_HUMAN tetratricopeptide repeat domain 16 191 binding central_nervous_system(2)|endometrium(3)|lung(7)|ovary(3)|pancreas(2)|prostate(4)|skin(1) 22 GCCTGCCTCACGCTCATCACC 0.612000 27 29 0 0 1 0 0 ENPP4 22875 broad.mit.edu 37 6 46108032 46108032 + Missense_Mutation SNP C C T TCGA-D3-A51N-06A-11D-A25O-08 TCGA-D3-A51N-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx E6060B74-8D26-4958-BA90-E67190095211 DA260899-7399-4C79-BACD-7086CDBECC4F g.chr6:46108032C>T ENST00000321037.4 + 2 942 c.712C>T c.(712-714)Cat>Tat p.H238Y NM_014936.4 NP_055751.1 Q9Y6X5 ENPP4_HUMAN ectonucleotide pyrophosphatase/phosphodiesterase 4 (putative) 238 integral to membrane hydrolase activity central_nervous_system(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 18 TACAAGTGATCATGGGATGAC 0.398000 25 44 0 0 1 0 0 MAP3K13 9175 broad.mit.edu 37 3 185167818 185167818 + Missense_Mutation SNP G G A TCGA-D3-A51N-06A-11D-A25O-08 TCGA-D3-A51N-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx E6060B74-8D26-4958-BA90-E67190095211 DA260899-7399-4C79-BACD-7086CDBECC4F g.chr3:185167818G>A ENST00000265026.3 + 6 1475 c.1141G>A c.(1141-1143)Gga>Aga p.G381R MAP3K13_ENST00000446828.1_Missense_Mutation_p.G174R|MAP3K13_ENST00000443863.1_Missense_Mutation_p.G237R|MAP3K13_ENST00000535426.1_Missense_Mutation_p.G237R|MAP3K13_ENST00000424227.1_Missense_Mutation_p.G381R NM_004721.4 NP_004712.1 O43283 M3K13_HUMAN mitogen-activated protein kinase kinase kinase 13 381 Protein kinase. activation of MAPKK activity|JNK cascade|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation cytoplasm|membrane|membrane fraction ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 54 all_cancers(143;7.21e-11)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;1.93e-20) TTGCCCTGATGGATTCAAAAT 0.428000 20 59 0 0 1 0 0 NRAP 4892 broad.mit.edu 37 10 115401143 115401143 + Missense_Mutation SNP A A G TCGA-D3-A51N-06A-11D-A25O-08 TCGA-D3-A51N-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx E6060B74-8D26-4958-BA90-E67190095211 DA260899-7399-4C79-BACD-7086CDBECC4F g.chr10:115401143A>G ENST00000369358.4 - 13 1548 c.1304T>C c.(1303-1305)gTt>gCt p.V435A NRAP_ENST00000369360.3_Missense_Mutation_p.V400A|NRAP_ENST00000359988.3_Missense_Mutation_p.V435A|NRAP_ENST00000360478.3_Missense_Mutation_p.V400A Q86VF7 NRAP_HUMAN nebulin-related anchoring protein 435 fascia adherens|muscle tendon junction actin binding|muscle alpha-actinin binding|zinc ion binding autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 95 Colorectal(252;0.0233)|Breast(234;0.188) Epithelial(162;0.00392)|all cancers(201;0.00569) CAGGCTGCCAACTTTCATAGC 0.463000 20 16 0 0 1 0 0 KBTBD13 390594 broad.mit.edu 37 15 65369922 65369922 + Missense_Mutation SNP G G A TCGA-D3-A51N-06A-11D-A25O-08 TCGA-D3-A51N-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx E6060B74-8D26-4958-BA90-E67190095211 DA260899-7399-4C79-BACD-7086CDBECC4F g.chr15:65369922G>A ENST00000432196.2 + 1 769 c.769G>A c.(769-771)Gac>Aac p.D257N NM_001101362.2 NP_001094832.1 C9JR72 KBTBD_HUMAN kelch repeat and BTB (POZ) domain containing 13 257 cytoplasm p.D257N(1) lung(1)|prostate(1)|skin(1) 3 GGCCGGCTTCGACGGCCGCCT 0.697000 3 7 0 0 1 0 0 ADAMTS5 11096 broad.mit.edu 37 21 28307054 28307054 + Missense_Mutation SNP C C T TCGA-D3-A51N-06A-11D-A25O-08 TCGA-D3-A51N-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx E6060B74-8D26-4958-BA90-E67190095211 DA260899-7399-4C79-BACD-7086CDBECC4F g.chr21:28307054C>T ENST00000284987.5 - 4 1541 c.1420G>A c.(1420-1422)Gac>Aac p.D474N AP001601.2_ENST00000426771.1_RNA NM_007038.3 NP_008969.2 Q9UNA0 ATS5_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 5 474 Peptidase M12B. proteolysis proteinaceous extracellular matrix integrin binding|metalloendopeptidase activity|zinc ion binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3) 72 CGTGGTAGGTCCAGCAAACAG 0.507000 11 17 0 0 1 0 0 AHNAK2 113146 broad.mit.edu 37 14 105416054 105416054 + Missense_Mutation SNP G G A TCGA-D3-A51N-06A-11D-A25O-08 TCGA-D3-A51N-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx E6060B74-8D26-4958-BA90-E67190095211 DA260899-7399-4C79-BACD-7086CDBECC4F g.chr14:105416054G>A ENST00000333244.5 - 7 5853 c.5734C>T c.(5734-5736)Ccc>Tcc p.P1912S AHNAK2_ENST00000557457.1_Intron NM_138420.2 NP_612429.2 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 1912 nucleus p.P1912S(1) cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3) 33 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) TTGAAACTGGGCATATCCACC 0.627000 4 190 0 0 1 0 0 MGAT4C 25834 broad.mit.edu 37 12 86373155 86373155 + Missense_Mutation SNP G G A TCGA-D3-A51N-06A-11D-A25O-08 TCGA-D3-A51N-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx E6060B74-8D26-4958-BA90-E67190095211 DA260899-7399-4C79-BACD-7086CDBECC4F g.chr12:86373155G>A ENST00000604798.1 - 8 2553 c.1349C>T c.(1348-1350)cCa>cTa p.P450L MGAT4C_ENST00000552808.2_Missense_Mutation_p.P450L|MGAT4C_ENST00000332156.1_Missense_Mutation_p.P450L|MGAT4C_ENST00000549405.2_Missense_Mutation_p.P450L|MGAT4C_ENST00000393205.2_Missense_Mutation_p.P479L|MGAT4C_ENST00000548651.1_Missense_Mutation_p.P450L Q9UBM8 MGT4C_HUMAN mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative) 450 post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 41 TATATCAAATGGAATTTTTTG 0.313000 12 19 0 0 1 0 0 CTC-260E6.6 0 broad.mit.edu 37 19 20369584 20369584 + RNA SNP G G A TCGA-D3-A51N-06A-11D-A25O-08 TCGA-D3-A51N-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx E6060B74-8D26-4958-BA90-E67190095211 DA260899-7399-4C79-BACD-7086CDBECC4F g.chr19:20369584G>A ENST00000593655.1 - 0 199 CTTACCAGGAGACTGGATATT 0.448000 15 41 0 0 1 0 0 CDYL 9425 broad.mit.edu 37 6 4937824 4937824 + Missense_Mutation SNP T T C TCGA-D3-A51N-06A-11D-A25O-08 TCGA-D3-A51N-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx E6060B74-8D26-4958-BA90-E67190095211 DA260899-7399-4C79-BACD-7086CDBECC4F g.chr6:4937824T>C ENST00000328908.5 + 6 1267 c.1136T>C c.(1135-1137)cTg>cCg p.L379P CDYL_ENST00000343762.5_Missense_Mutation_p.L193P|CDYL_ENST00000397588.3_Missense_Mutation_p.L325P|CDYL_ENST00000472453.1_3'UTR|CDYL_ENST00000449732.2_Missense_Mutation_p.L193P Q9Y232 CDYL1_HUMAN chromodomain protein, Y-like 379 regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent nucleus histone acetyltransferase activity breast(2)|kidney(2)|large_intestine(9)|lung(13)|skin(1)|stomach(2)|urinary_tract(1) 30 Ovarian(93;0.11) all_hematologic(90;0.0901)|Lung NSC(90;0.244) OV - Ovarian serous cystadenocarcinoma(45;0.182) CAGAGTGCTCTGAGCACGGCC 0.433000 16 24 0 0 1 0 0 OR52E6 390078 broad.mit.edu 37 11 5863093 5863093 + Missense_Mutation SNP G G A TCGA-D3-A51N-06A-11D-A25O-08 TCGA-D3-A51N-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx E6060B74-8D26-4958-BA90-E67190095211 DA260899-7399-4C79-BACD-7086CDBECC4F g.chr11:5863093G>A ENST00000329322.5 - 1 34 c.35C>T c.(34-36)tCt>tTt p.S12F TRIM5_ENST00000380027.1_Intron|OR52E6_ENST00000379946.2_Missense_Mutation_p.S16F NM_001005167.1 NP_001005167.1 Q96RD3 O52E6_HUMAN olfactory receptor, family 52, subfamily E, member 6 12 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 27 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;2.55e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) TAGGAATGAAGAAGTATGGAA 0.413000 16 14 0 0 1 0 0 PCDHAC2 56134 broad.mit.edu 37 5 140347662 140347662 + Silent SNP C C T TCGA-D3-A51N-06A-11D-A25O-08 TCGA-D3-A51N-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx E6060B74-8D26-4958-BA90-E67190095211 DA260899-7399-4C79-BACD-7086CDBECC4F g.chr5:140347662C>T ENST00000289269.5 + 1 1843 c.1311C>T c.(1309-1311)atC>atT p.I437I PCDHA9_ENST00000532602.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHAC1_ENST00000253807.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529859.1_Intron NM_018899.5|NM_031883.2 NP_061722.1|NP_114089.1 Q9Y5I4 PCDC2_HUMAN 437 Cadherin 4. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 45 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TCTACAACATCACGGTGACAG 0.552000 35 89 0 0 1 0 0 TP63 8626 broad.mit.edu 37 3 189612036 189612036 + Silent SNP G G A rs148577576 byFrequency TCGA-D3-A51N-06A-11D-A25O-08 TCGA-D3-A51N-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx E6060B74-8D26-4958-BA90-E67190095211 DA260899-7399-4C79-BACD-7086CDBECC4F g.chr3:189612036G>A ENST00000264731.3 + 14 1877 c.1788G>A c.(1786-1788)gcG>gcA p.A596A TP63_ENST00000354600.5_Silent_p.A502A|TP63_ENST00000382063.4_Silent_p.A511A|TP63_ENST00000320472.5_3'UTR|TP63_ENST00000456148.1_Silent_p.A498A|TP63_ENST00000449992.1_Silent_p.A417A|TP63_ENST00000440651.2_Silent_p.A592A NM_001114978.1|NM_003722.4 NP_001108450.1|NP_003713.3 Q9H3D4 P63_HUMAN tumor protein p63 596 SAM. anti-apoptosis|cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6) 61 all_cancers(143;3.35e-10)|Ovarian(172;0.0925) Lung(62;3.33e-05) GBM - Glioblastoma multiforme(93;0.0227) TTCGACATGCGATCTGGAAGG 0.532000 HNSCC(45;0.13) 16 43 0 0 1 0 0 HBE1 3046 broad.mit.edu 37 11 5290762 5290762 + Missense_Mutation SNP C C T TCGA-D3-A51N-06A-11D-A25O-08 TCGA-D3-A51N-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx E6060B74-8D26-4958-BA90-E67190095211 DA260899-7399-4C79-BACD-7086CDBECC4F g.chr11:5290762C>T ENST00000380237.1 - 4 581 c.237G>A c.(235-237)atG>atA p.M79I HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron|HBE1_ENST00000292896.2_Missense_Mutation_p.M79I P02100 HBE_HUMAN hemoglobin, epsilon 1 79 blood coagulation hemoglobin complex heme binding|oxygen binding|oxygen transporter activity breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|skin(1) 20 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;1.34e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) TGAGGTTGTCCATGTTTTTAA 0.522000 14 55 0 0 1 0 0 LAMA3 3909 broad.mit.edu 37 18 21422579 21422579 + Silent SNP C C T TCGA-D3-A51N-06A-11D-A25O-08 TCGA-D3-A51N-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx E6060B74-8D26-4958-BA90-E67190095211 DA260899-7399-4C79-BACD-7086CDBECC4F g.chr18:21422579C>T ENST00000313654.9 + 29 3709 c.3468C>T c.(3466-3468)tcC>tcT p.S1156S LAMA3_ENST00000399516.3_Silent_p.S1156S NM_198129.1 NP_937762.1 Q16787 LAMA3_HUMAN laminin, alpha 3 1156 Domain IV 1 (domain IV B). cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4) 128 all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) TGCCAGGCTCCTTCCATGCCT 0.577000 32 50 0 0 1 0 0 HIST1H1C 3006 broad.mit.edu 37 6 26056138 26056138 + Silent SNP G G A TCGA-D3-A51N-06A-11D-A25O-08 TCGA-D3-A51N-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx E6060B74-8D26-4958-BA90-E67190095211 DA260899-7399-4C79-BACD-7086CDBECC4F g.chr6:26056138G>A ENST00000343677.2 - 1 561 c.519C>T c.(517-519)agC>agT p.S173S NM_005319.3 NP_005310.1 P16403 H12_HUMAN histone cluster 1, H1c 173 nucleosome assembly nucleosome|nucleus DNA binding NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(3) 34 CCTTCTTTGGGCTCTTAGCCA 0.562000 5 153 0 0 1 0 0 STUB1 10273 broad.mit.edu 37 16 731537 731537 + Missense_Mutation SNP G G A TCGA-D3-A51N-06A-11D-A25O-08 TCGA-D3-A51N-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx E6060B74-8D26-4958-BA90-E67190095211 DA260899-7399-4C79-BACD-7086CDBECC4F g.chr16:731537G>A ENST00000565677.1 + 3 849 c.242G>A c.(241-243)cGg>cAg p.R81Q STUB1_ENST00000564370.1_Missense_Mutation_p.R81Q|STUB1_ENST00000566181.2_3'UTR|STUB1_ENST00000219548.4_Missense_Mutation_p.R153Q Q9UNE7 CHIP_HUMAN STIP1 homology and U-box containing protein 1, E3 ubiquitin protein ligase 153 cellular response to misfolded protein|DNA repair|misfolded or incompletely synthesized protein catabolic process|positive regulation of cellular chaperone-mediated protein complex assembly|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process|protein autoubiquitination|protein K63-linked ubiquitination|protein maturation|regulation of glucocorticoid metabolic process|ubiquitin-dependent SMAD protein catabolic process cytoplasm|nuclear inclusion body|ubiquitin conjugating enzyme complex|ubiquitin ligase complex Hsp70 protein binding|Hsp90 protein binding|kinase binding|misfolded protein binding|protein binding, bridging|protein homodimerization activity|SMAD binding|TPR domain binding|ubiquitin-ubiquitin ligase activity endometrium(2)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 6 Hepatocellular(780;0.00335) ATTGAGGAGCGGCGCATCCAC 0.642000 11 11 0 0 1 0 0 TRIM71 131405 broad.mit.edu 37 3 32932226 32932226 + Nonsense_Mutation SNP T T G TCGA-D3-A51N-06A-11D-A25O-08 TCGA-D3-A51N-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx E6060B74-8D26-4958-BA90-E67190095211 DA260899-7399-4C79-BACD-7086CDBECC4F g.chr3:32932226T>G ENST00000383763.4 + 4 1593 c.1530T>G c.(1528-1530)taT>taG p.Y510* NM_001039111.1 NP_001034200.1 Q2Q1W2 LIN41_HUMAN tripartite motif containing 71, E3 ubiquitin protein ligase 510 multicellular organismal development cytoplasm zinc ion binding breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 TCATTGGTTATGACCACGATG 0.612000 11 22 0 0 1 0 0 MUC17 140453 broad.mit.edu 37 7 100682001 100682001 + Missense_Mutation SNP G G T TCGA-D3-A51N-06A-11D-A25O-08 TCGA-D3-A51N-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx E6060B74-8D26-4958-BA90-E67190095211 DA260899-7399-4C79-BACD-7086CDBECC4F g.chr7:100682001G>T ENST00000306151.4 + 3 7368 c.7304G>T c.(7303-7305)aGt>aTt p.S2435I NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 2435 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) ACTGAAGCCAGTTCATCTCCT 0.547000 80 330 1.88935e-48 2.02528e-48 1 1 0 ZNF728 388523 broad.mit.edu 37 19 23159264 23159264 + Missense_Mutation SNP G G C TCGA-D3-A51N-06A-11D-A25O-08 TCGA-D3-A51N-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx E6060B74-8D26-4958-BA90-E67190095211 DA260899-7399-4C79-BACD-7086CDBECC4F g.chr19:23159264G>C ENST00000594710.1 - 4 1020 c.875C>G c.(874-876)gCc>gGc p.A292G NM_001267716.1 NP_001254645.1 zinc finger protein 728 CTTACTAAAGGCTTTGCCACA 0.448000 6 40 0 0 1 0 0 MORC1 27136 broad.mit.edu 37 3 108677852 108677852 + Missense_Mutation SNP C C T TCGA-D3-A51N-06A-11D-A25O-08 TCGA-D3-A51N-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx E6060B74-8D26-4958-BA90-E67190095211 DA260899-7399-4C79-BACD-7086CDBECC4F g.chr3:108677852C>T ENST00000232603.5 - 28 2997 c.2915G>A c.(2914-2916)aGa>aAa p.R972K MORC1_ENST00000483760.1_Missense_Mutation_p.R951K NM_014429.3 NP_055244.3 Q86VD1 MORC1_HUMAN MORC family CW-type zinc finger 1 972 cell differentiation|multicellular organismal development|spermatogenesis nucleus ATP binding|zinc ion binding breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3) 105 taaagggagtctatgtcttgc 0.299000 12 15 0 0 1 0 0 RGPD8 727851 broad.mit.edu 37 2 113127775 113127775 + Missense_Mutation SNP G G C TCGA-D3-A51N-06A-11D-A25O-08 TCGA-D3-A51N-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx E6060B74-8D26-4958-BA90-E67190095211 DA260899-7399-4C79-BACD-7086CDBECC4F g.chr2:113127775G>C ENST00000302558.3 - 23 5469 c.5278C>G c.(5278-5280)Cct>Gct p.P1760A RGPD8_ENST00000409750.1_Missense_Mutation_p.P1620A NM_001164463.1 NP_001157935.1 RANBP2-like and GRIP domain containing 8 p.P1760A(12) endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1) 10 GAACGGGAAGGATTTTCTTCC 0.308000 3 56 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-D3-A51N-06A-11D-A25O-08 TCGA-D3-A51N-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx E6060B74-8D26-4958-BA90-E67190095211 DA260899-7399-4C79-BACD-7086CDBECC4F g.chr7:140453136A>T ENST00000288602.6 - 15 1859 c.1799T>A c.(1798-1800)gTg>gAg p.V600E NM_004333.4 NP_004324.2 P15056 BRAF_HUMAN v-raf murine sarcoma viral oncogene homolog B 600 Protein kinase. V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis). activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1) SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2) NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3) 27380 Melanoma(164;0.00956) Sorafenib(DB00398) TCGAGATTTCACTGTAGCTAG 0.368000 V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN) 61 """Mis, T, O""" """AKAP9, KIAA1549""" """melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma""" Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 39 50 0 0 1 0 0 RRM2B 50484 broad.mit.edu 37 8 103238242 103238242 + Silent SNP G G A TCGA-D3-A51N-06A-11D-A25O-08 TCGA-D3-A51N-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx E6060B74-8D26-4958-BA90-E67190095211 DA260899-7399-4C79-BACD-7086CDBECC4F g.chr8:103238242G>A ENST00000251810.3 - 3 468 c.225C>T c.(223-225)ctC>ctT p.L75L RRM2B_ENST00000519962.1_Intron|RRM2B_ENST00000519317.1_Intron|RRM2B_ENST00000395912.2_Silent_p.L23L NM_001172478.1|NM_015713.4 NP_001165949.1|NP_056528.2 Q7LG56 RIR2B_HUMAN ribonucleotide reductase M2 B (TP53 inducible) 75 deoxyribonucleoside diphosphate metabolic process|DNA repair|nucleobase, nucleoside and nucleotide interconversion nucleoplasm ribonucleoside-diphosphate reductase activity|transition metal ion binding breast(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(2)|upper_aerodigestive_tract(1) 9 all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05) OV - Ovarian serous cystadenocarcinoma(57;0.000728) TCCAGTGAGGGAGATCCTTTG 0.338000 Modulation of nucleotide pools 20 30 0 0 1 0 0 GCN1L1 10985 broad.mit.edu 37 12 120594339 120594339 + Missense_Mutation SNP C C T TCGA-D3-A51N-06A-11D-A25O-08 TCGA-D3-A51N-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx E6060B74-8D26-4958-BA90-E67190095211 DA260899-7399-4C79-BACD-7086CDBECC4F g.chr12:120594339C>T ENST00000300648.6 - 28 3250 c.3238G>A c.(3238-3240)Gag>Aag p.E1080K NM_006836.1 NP_006827.1 Q92616 GCN1L_HUMAN GCN1 general control of amino-acid synthesis 1-like 1 (yeast) 1080 regulation of translation ribosome protein binding|translation factor activity, nucleic acid binding NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 94 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) TCCTCCTGCTCTGCAAAGGCA 0.597000 7 19 0 0 1 0 0 IDH3G 3421 broad.mit.edu 37 X 153053383 153053383 + Silent SNP G G A TCGA-D3-A51N-06A-11D-A25O-08 TCGA-D3-A51N-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx E6060B74-8D26-4958-BA90-E67190095211 DA260899-7399-4C79-BACD-7086CDBECC4F g.chrX:153053383G>A ENST00000370092.3 - 7 620 c.435C>T c.(433-435)gtC>gtT p.V145V IDH3G_ENST00000217901.5_Silent_p.V145V|IDH3G_ENST00000427365.2_Silent_p.V87V|IDH3G_ENST00000370093.1_Silent_p.V145V|IDH3G_ENST00000497043.1_5'UTR NM_174869.2 NP_777358.1 P51553 IDH3G_HUMAN isocitrate dehydrogenase 3 (NAD+) gamma 145 carbohydrate metabolic process|isocitrate metabolic process|tricarboxylic acid cycle mitochondrial matrix|nucleolus ATP binding|isocitrate dehydrogenase (NAD+) activity|magnesium ion binding|NAD binding breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|prostate(1) 17 all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05) NADH(DB00157) TACAGTGGATGACGTTGGCAT 0.607000 7 122 0 0 1 0 0 NELL1 4745 broad.mit.edu 37 11 20939745 20939745 + Silent SNP G G A TCGA-D3-A51N-06A-11D-A25O-08 TCGA-D3-A51N-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx E6060B74-8D26-4958-BA90-E67190095211 DA260899-7399-4C79-BACD-7086CDBECC4F g.chr11:20939745G>A ENST00000298925.5 + 7 858 c.705G>A c.(703-705)ggG>ggA p.G235G NELL1_ENST00000325319.5_Silent_p.G150G|NELL1_ENST00000532434.1_Silent_p.G207G|NELL1_ENST00000357134.5_Silent_p.G207G Q92832 NELL1_HUMAN NEL-like 1 (chicken) 207 cell adhesion|nervous system development extracellular region calcium ion binding|structural molecule activity NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1) 70 TCCAAGATGGGAAGATCATCT 0.378000 20 56 0 0 1 0 0 TMPRSS15 5651 broad.mit.edu 37 21 19716377 19716377 + Splice_Site SNP C C T rs142617767 TCGA-D3-A51N-06A-11D-A25O-08 TCGA-D3-A51N-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx E6060B74-8D26-4958-BA90-E67190095211 DA260899-7399-4C79-BACD-7086CDBECC4F g.chr21:19716377C>T ENST00000284885.3 - 11 1205 c.1171_splice c.e11-1 p.G391_splice NM_002772.2 NP_002763.2 P98073 ENTK_HUMAN transmembrane protease, serine 15 391 MAM. proteolysis brush border|integral to membrane scavenger receptor activity|serine-type endopeptidase activity NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 85 AATGTAAAATCCTGTAAAAAT 0.378000 23 38 0 0 1 0 0 ZNF679 168417 broad.mit.edu 37 7 63720659 63720659 + Missense_Mutation SNP G G A TCGA-D3-A51N-06A-11D-A25O-08 TCGA-D3-A51N-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx E6060B74-8D26-4958-BA90-E67190095211 DA260899-7399-4C79-BACD-7086CDBECC4F g.chr7:63720659G>A ENST00000421025.1 + 3 369 c.100G>A c.(100-102)Gat>Aat p.D34N ZNF679_ENST00000255746.4_Missense_Mutation_p.D34N NM_001159524.1|NM_153363.2 NP_001152996.1|NP_699194.2 Q8IYX0 ZN679_HUMAN zinc finger protein 679 34 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(3)|lung(11)|skin(1)|stomach(1) 18 GCAATGCCTGGATCACGCTCA 0.388000 19 107 0 0 1 0 0 LGSN 51557 broad.mit.edu 37 6 63990574 63990574 + Silent SNP C C T TCGA-D3-A51N-06A-11D-A25O-08 TCGA-D3-A51N-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx E6060B74-8D26-4958-BA90-E67190095211 DA260899-7399-4C79-BACD-7086CDBECC4F g.chr6:63990574C>T ENST00000370657.4 - 4 915 c.882G>A c.(880-882)agG>agA p.R294R LGSN_ENST00000370658.5_Intron Q5TDP6 LGSN_HUMAN lengsin, lens protein with glutamine synthetase domain 294 glutamine biosynthetic process glutamate-ammonia ligase activity NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 L-Glutamic Acid(DB00142) AATTATATTTCCTTGCCACTT 0.418000 11 18 0 0 1 0 0 OBSCN 84033 broad.mit.edu 37 1 228494091 228494091 + Missense_Mutation SNP G G A TCGA-D3-A51N-06A-11D-A25O-08 TCGA-D3-A51N-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx E6060B74-8D26-4958-BA90-E67190095211 DA260899-7399-4C79-BACD-7086CDBECC4F g.chr1:228494091G>A ENST00000570156.2 + 55 14623 c.14549G>A c.(14548-14550)cGg>cAg p.R4850Q OBSCN_ENST00000366707.4_Missense_Mutation_p.R1527Q|OBSCN_ENST00000284548.11_Missense_Mutation_p.R3893Q|OBSCN_ENST00000422127.1_Missense_Mutation_p.R3893Q|OBSCN_ENST00000366709.4_Missense_Mutation_p.R1012Q NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 3893 apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding p.R4605L(1)|p.R3893L(1)|p.R4475L(1) NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) CCAGTGTTCCGGGAGCCGCTG 0.667000 7 11 0 0 1 0 0 ACSM2A 123876 broad.mit.edu 37 16 20476956 20476956 + Missense_Mutation SNP G G A TCGA-D3-A51N-06A-11D-A25O-08 TCGA-D3-A51N-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx E6060B74-8D26-4958-BA90-E67190095211 DA260899-7399-4C79-BACD-7086CDBECC4F g.chr16:20476956G>A ENST00000573854.1 + 3 409 c.295G>A c.(295-297)Gga>Aga p.G99R ACSM2A_ENST00000219054.6_Missense_Mutation_p.G99R|ACSM2A_ENST00000396104.2_Missense_Mutation_p.G99R|ACSM2A_ENST00000575690.1_Missense_Mutation_p.G99R|ACSM2A_ENST00000424070.1_Missense_Mutation_p.G99R|ACSM2A_ENST00000417235.2_Missense_Mutation_p.G20R|ACSM2A_ENST00000536134.1_5'UTR|ACSM2A_ENST00000575558.1_3'UTR NM_001010845.2 NP_001010845.1 Q08AH3 ACS2A_HUMAN acyl-CoA synthetase medium-chain family member 2A 99 fatty acid metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|metal ion binding breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1) 51 CGTCCTCTCGGGAGCCTGTGG 0.592000 5 37 0 0 1 0 0 NBPF10 100132406 broad.mit.edu 37 1 145296373 145296373 + Missense_Mutation SNP G G T rs3969711 TCGA-D3-A51N-06A-11D-A25O-08 TCGA-D3-A51N-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx E6060B74-8D26-4958-BA90-E67190095211 DA260899-7399-4C79-BACD-7086CDBECC4F g.chr1:145296373G>T ENST00000342960.5 + 3 330 c.295G>T c.(295-297)Gtt>Ttt p.V99F NBPF10_ENST00000369339.2_Intron|RP11-458D21.5_ENST00000468030.1_3'UTR|NBPF10_ENST00000369338.1_Intron NM_001039703.4 NP_001034792.4 A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 99 p.V99F(1) NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) TAAAGTCCTAGTTCACTCTCA 0.473000 5 230 0.014758 0.0148577 1 1 0 PCDHGB6 56100 broad.mit.edu 37 5 140789041 140789041 + Silent SNP C C T TCGA-D3-A51N-06A-11D-A25O-08 TCGA-D3-A51N-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx E6060B74-8D26-4958-BA90-E67190095211 DA260899-7399-4C79-BACD-7086CDBECC4F g.chr5:140789041C>T ENST00000520790.1 + 1 1272 c.1272C>T c.(1270-1272)gcC>gcT p.A424A PCDHGA7_ENST00000518325.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron NM_018926.2|NM_032100.1 NP_061749.1|NP_115271.1 breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2) 48 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCATCGTAGCCACTGACAGGG 0.493000 16 19 0 0 1 0 0 ARAP2 116984 broad.mit.edu 37 4 36085069 36085069 + Missense_Mutation SNP T T C TCGA-D3-A51N-06A-11D-A25O-08 TCGA-D3-A51N-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx E6060B74-8D26-4958-BA90-E67190095211 DA260899-7399-4C79-BACD-7086CDBECC4F g.chr4:36085069T>C ENST00000303965.4 - 29 4918 c.4429A>G c.(4429-4431)Agt>Ggt p.S1477G NM_015230.3 NP_056045.2 Q8WZ64 ARAP2_HUMAN ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2 1477 PH 5. regulation of ARF GTPase activity|small GTPase mediated signal transduction cytosol ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1) 82 TCATGTTTACTACTCTGTAAG 0.308000 4 10 0 0 1 0 0 CACNA1H 8912 broad.mit.edu 37 16 1270406 1270406 + Silent SNP G G A TCGA-D3-A51N-06A-11D-A25O-08 TCGA-D3-A51N-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx E6060B74-8D26-4958-BA90-E67190095211 DA260899-7399-4C79-BACD-7086CDBECC4F g.chr16:1270406G>A ENST00000348261.5 + 35 6722 c.6474G>A c.(6472-6474)gcG>gcA p.A2158A CACNA1H_ENST00000565831.1_Silent_p.A2152A|CACNA1H_ENST00000358590.4_Silent_p.A2152A NM_021098.2 NP_066921.2 O95180 CAC1H_HUMAN calcium channel, voltage-dependent, T type, alpha 1H subunit 2158 aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction voltage-gated calcium channel complex low voltage-gated calcium channel activity breast(4)|endometrium(5)|kidney(2)|lung(23) 34 Hepatocellular(780;0.00369) Flunarizine(DB04841)|Mibefradil(DB01388) GGCCCTCGGCGGAGCTGGGCA 0.731000 10 20 0 0 1 0 0 IP6K3 117283 broad.mit.edu 37 6 33690846 33690846 + Missense_Mutation SNP C C T TCGA-D3-A51N-06A-11D-A25O-08 TCGA-D3-A51N-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx E6060B74-8D26-4958-BA90-E67190095211 DA260899-7399-4C79-BACD-7086CDBECC4F g.chr6:33690846C>T ENST00000451316.1 - 7 1419 c.884G>A c.(883-885)cGg>cAg p.R295Q IP6K3_ENST00000293756.4_Missense_Mutation_p.R295Q NM_001142883.1 NP_001136355.1 Q96PC2 IP6K3_HUMAN inositol hexakisphosphate kinase 3 295 inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|protein phosphorylation cytoplasm ATP binding|inositol hexakisphosphate 5-kinase activity|inositol hexakisphosphate 6-kinase activity|inositol trisphosphate 3-kinase activity skin(1) 1 GAGCTCCCTCCGGAGGTGGCT 0.522000 3 48 0 0 1 0 0 RYR1 6261 broad.mit.edu 37 19 38983156 38983156 + Missense_Mutation SNP G G A TCGA-D3-A51N-06A-11D-A25O-08 TCGA-D3-A51N-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx E6060B74-8D26-4958-BA90-E67190095211 DA260899-7399-4C79-BACD-7086CDBECC4F g.chr19:38983156G>A ENST00000355481.4 + 38 6285 c.6154G>A c.(6154-6156)Gaa>Aaa p.E2052K RYR1_ENST00000359596.3_Missense_Mutation_p.E2052K|RYR1_ENST00000360985.3_Missense_Mutation_p.E2052K NM_000540.2|NM_001042723.1 NP_000531.2|NP_001036188.1 P21817 RYR1_HUMAN ryanodine receptor 1 (skeletal) 2052 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 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) AGAGGAGGAGGAACCAGAGGA 0.502000 11 35 0 0 1 0 0 NOL4 8715 broad.mit.edu 37 18 31537407 31537407 + Silent SNP G G A TCGA-D3-A51N-06A-11D-A25O-08 TCGA-D3-A51N-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx E6060B74-8D26-4958-BA90-E67190095211 DA260899-7399-4C79-BACD-7086CDBECC4F g.chr18:31537407G>A ENST00000261592.5 - 8 1608 c.1311C>T c.(1309-1311)atC>atT p.I437I NOL4_ENST00000535475.1_Intron|NOL4_ENST00000535384.1_Silent_p.I152I|NOL4_ENST00000589544.1_Intron|NOL4_ENST00000538587.1_Silent_p.I363I|NOL4_ENST00000269185.4_Intron NM_001198546.1|NM_003787.4 NP_001185475.1|NP_003778.2 O94818 NOL4_HUMAN nucleolar protein 4 437 nucleolus RNA binding NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 51 TGATAGCCTGGATCTTTTCTT 0.473000 15 27 0 0 1 0 0 NLRP11 204801 broad.mit.edu 37 19 56329460 56329460 + Silent SNP C C T TCGA-D3-A51N-06A-11D-A25O-08 TCGA-D3-A51N-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx E6060B74-8D26-4958-BA90-E67190095211 DA260899-7399-4C79-BACD-7086CDBECC4F g.chr19:56329460C>T ENST00000443188.1 - 4 791 c.81G>A c.(79-81)aaG>aaA p.K27K NLRP11_ENST00000360133.3_Silent_p.K27K|NLRP11_ENST00000589093.1_Silent_p.K27K|NLRP11_ENST00000589824.2_Silent_p.K27K|NLRP11_ENST00000592953.1_Intron NM_145007.3 NP_659444.2 P59045 NAL11_HUMAN NLR family, pyrin domain containing 11 27 DAPIN. ATP binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3) 66 Colorectal(82;0.0002) GBM - Glioblastoma multiforme(193;0.0325) CCAGATACTTCTTAAAACTCT 0.428000 16 39 0 0 1 0 0 SEMA3E 9723 broad.mit.edu 37 7 83036423 83036423 + Missense_Mutation SNP C C T TCGA-D3-A51N-06A-11D-A25O-08 TCGA-D3-A51N-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx E6060B74-8D26-4958-BA90-E67190095211 DA260899-7399-4C79-BACD-7086CDBECC4F g.chr7:83036423C>T ENST00000307792.3 - 7 1270 c.803G>A c.(802-804)cGa>cAa p.R268Q SEMA3E_ENST00000427262.1_Missense_Mutation_p.R208Q NM_012431.2 NP_036563.1 O15041 SEM3E_HUMAN sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E 268 Sema. axon guidance extracellular space|membrane receptor activity breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3) 51 Medulloblastoma(109;0.109) CACACAGAGTCGCCCGACCCT 0.383000 23 31 0 0 1 0 0 FRG1 2483 broad.mit.edu 37 4 190873424 190873424 + Missense_Mutation SNP G G C TCGA-D3-A51N-06A-11D-A25O-08 TCGA-D3-A51N-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx E6060B74-8D26-4958-BA90-E67190095211 DA260899-7399-4C79-BACD-7086CDBECC4F g.chr4:190873424G>C ENST00000226798.4 + 3 463 c.241G>C c.(241-243)Gga>Cga p.G81R FRG1_ENST00000514482.1_3'UTR NM_004477.2 NP_004468.1 Q14331 FRG1_HUMAN FSHD region gene 1 81 rRNA processing Cajal body|catalytic step 2 spliceosome|nuclear speck|nucleolus NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1) 32 all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147) all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161) TTTTACCCTGGGAGCTCCACA 0.428000 6 95 0 0 1 0 0 SREK1 140890 broad.mit.edu 37 5 65466627 65466627 + Missense_Mutation SNP G G A TCGA-D3-A51N-06A-11D-A25O-08 TCGA-D3-A51N-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx E6060B74-8D26-4958-BA90-E67190095211 DA260899-7399-4C79-BACD-7086CDBECC4F g.chr5:65466627G>A ENST00000334121.6 + 9 1495 c.1336G>A c.(1336-1338)Gac>Aac p.D446N SREK1_ENST00000380918.3_Missense_Mutation_p.D330N|SREK1_ENST00000284041.3_3'UTR NM_001077199.2|NM_001270492.1 NP_001070667.1|NP_001257421.1 Q8WXA9 SREK1_HUMAN splicing regulatory glutamine/lysine-rich protein 1 330 Arg/Glu/Lys/Ser-rich. mRNA processing|RNA splicing spliceosomal complex nucleic acid binding|nucleotide binding|protein binding breast(1)|kidney(3)|large_intestine(2)|lung(1)|pancreas(1)|prostate(1) 9 gaaggatcgagacaaagagaa 0.403000 10 21 0 0 1 0 0 GK 2710 broad.mit.edu 37 X 30683659 30683659 + Missense_Mutation SNP G G A TCGA-D3-A51N-06A-11D-A25O-08 TCGA-D3-A51N-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx E6060B74-8D26-4958-BA90-E67190095211 DA260899-7399-4C79-BACD-7086CDBECC4F g.chrX:30683659G>A ENST00000378943.3 + 2 289 c.110G>A c.(109-111)aGt>aAt p.S37N GK_ENST00000378946.3_Missense_Mutation_p.S37N|GK_ENST00000378941.3_Missense_Mutation_p.S37N|GK_ENST00000378945.3_Missense_Mutation_p.S37N|GK_ENST00000427190.1_5'UTR NM_001128127.2 NP_001121599.1 P32189 GLPK_HUMAN glycerol kinase 37 glycerol-3-phosphate metabolic process|triglyceride biosynthetic process cytosol|mitochondrial outer membrane ATP binding|glycerol kinase activity central_nervous_system(1)|large_intestine(3) 4 GAACTACTTAGTCATCATCAA 0.303000 7 28 0 0 1 0 0 TENM1 10178 broad.mit.edu 37 X 123615714 123615714 + Missense_Mutation SNP G G A TCGA-D3-A51N-06A-11D-A25O-08 TCGA-D3-A51N-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx E6060B74-8D26-4958-BA90-E67190095211 DA260899-7399-4C79-BACD-7086CDBECC4F g.chrX:123615714G>A ENST00000422452.2 - 22 3880 c.3817C>T c.(3817-3819)Ctt>Ttt p.L1273F TENM1_ENST00000371130.3_Missense_Mutation_p.L1266F|TENM1_ENST00000461429.1_5'UTR NM_001163278.1|NM_001163279.1 NP_001156750.1|NP_001156751.1 teneurin transmembrane protein 1 GTCTCCACAAGAGATTTCAAC 0.458000 22 73 0 0 1 0 0 MYO9A 4649 broad.mit.edu 37 15 72172810 72172810 + Missense_Mutation SNP G G A TCGA-D3-A51N-06A-11D-A25O-08 TCGA-D3-A51N-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx E6060B74-8D26-4958-BA90-E67190095211 DA260899-7399-4C79-BACD-7086CDBECC4F g.chr15:72172810G>A ENST00000356056.5 - 29 5960 c.5488C>T c.(5488-5490)Cca>Tca p.P1830S MYO9A_ENST00000564571.1_Missense_Mutation_p.P1830S|MYO9A_ENST00000444904.1_Missense_Mutation_p.P1811S|MYO9A_ENST00000424560.1_Missense_Mutation_p.P1901S NM_006901.3 NP_008832.2 B2RTY4 MYO9A_HUMAN myosin IXA 1830 Tail. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception cytosol|integral to membrane|unconventional myosin complex actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 88 TTAGCCTTTGGAGAAGGTTCT 0.458000 18 62 0 0 1 0 0 DNMT3B 1789 broad.mit.edu 37 20 31389147 31389147 + Missense_Mutation SNP G G A TCGA-D3-A51N-06A-11D-A25O-08 TCGA-D3-A51N-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx E6060B74-8D26-4958-BA90-E67190095211 DA260899-7399-4C79-BACD-7086CDBECC4F g.chr20:31389147G>A ENST00000328111.2 + 19 2381 c.2060G>A c.(2059-2061)gGt>gAt p.G687D DNMT3B_ENST00000344505.4_Missense_Mutation_p.G667D|DNMT3B_ENST00000348286.2_Missense_Mutation_p.G667D|DNMT3B_ENST00000456297.2_Missense_Mutation_p.G591D|DNMT3B_ENST00000443239.3_Missense_Mutation_p.G625D|DNMT3B_ENST00000201963.3_Missense_Mutation_p.G679D|DNMT3B_ENST00000353855.2_Missense_Mutation_p.G667D NM_006892.3 NP_008823.1 Q9UBC3 DNM3B_HUMAN DNA (cytosine-5-)-methyltransferase 3 beta 687 negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation metal ion binding|protein binding|transcription corepressor activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 CCCAAGGAGGGTGATGACCGG 0.527000 16 41 0 0 1 0 0 MYH2 4620 broad.mit.edu 37 17 10432372 10432372 + Missense_Mutation SNP C C T TCGA-D3-A51N-06A-11D-A25O-08 TCGA-D3-A51N-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx E6060B74-8D26-4958-BA90-E67190095211 DA260899-7399-4C79-BACD-7086CDBECC4F g.chr17:10432372C>T ENST00000245503.5 - 27 3763 c.3379G>A c.(3379-3381)Gaa>Aaa p.E1127K CTC-297N7.7_ENST00000399342.2_RNA|MYH2_ENST00000532183.1_Intron|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.E1127K NM_017534.5 NP_060004.3 Q9UKX2 MYH2_HUMAN myosin, heavy chain 2, skeletal muscle, adult 1127 muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4) 176 GCCTCGATTTCCTCCTCCAGC 0.572000 15 39 0 0 1 0 0 EIF3H 8667 broad.mit.edu 37 8 117658843 117658843 + Splice_Site SNP C C A TCGA-D3-A51N-06A-11D-A25O-08 TCGA-D3-A51N-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx E6060B74-8D26-4958-BA90-E67190095211 DA260899-7399-4C79-BACD-7086CDBECC4F g.chr8:117658843C>A ENST00000521861.1 - 7 852 c.e7-1 EIF3H_ENST00000276682.4_Splice_Site NM_003756.2 NP_003747.1 O15372 EIF3H_HUMAN eukaryotic translation initiation factor 3, subunit H regulation of translational initiation cytosol|eukaryotic translation initiation factor 3 complex protein binding|translation initiation factor activity large_intestine(2)|lung(10)|skin(1) 13 all_cancers(13;3.98e-22)|Lung NSC(37;0.000183)|Ovarian(258;0.0172) GCTGCTGATACTAAAATTCAA 0.507000 38 101 9.8876e-21 1.05232e-20 1 1 0 OR51F1 256892 broad.mit.edu 37 11 4790452 4790452 + Silent SNP G G A TCGA-D3-A51N-06A-11D-A25O-08 TCGA-D3-A51N-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx E6060B74-8D26-4958-BA90-E67190095211 DA260899-7399-4C79-BACD-7086CDBECC4F g.chr11:4790452G>A ENST00000380383.1 - 1 716 c.717C>T c.(715-717)tcC>tcT p.S239S OR51F1_ENST00000343430.3_Silent_p.S232S|MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron A6NLW9 A6NLW9_HUMAN olfactory receptor, family 51, subfamily F, member 1 232 integral to membrane olfactory receptor activity kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 22 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778) Epithelial(150;5.87e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0045)|LUSC - Lung squamous cell carcinoma(625;0.192) ATTCTTCAGGGGAGGCAATTC 0.458000 17 53 0 0 1 0 0 MUC7 4589 broad.mit.edu 37 4 71347047 71347047 + Missense_Mutation SNP T T C TCGA-D3-A51N-06A-11D-A25O-08 TCGA-D3-A51N-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx E6060B74-8D26-4958-BA90-E67190095211 DA260899-7399-4C79-BACD-7086CDBECC4F g.chr4:71347047T>C ENST00000413702.1 + 4 874 c.586T>C c.(586-588)Tct>Cct p.S196P MUC7_ENST00000456088.1_Missense_Mutation_p.S196P|MUC7_ENST00000304887.5_Missense_Mutation_p.S196P NM_001145006.1 NP_001138478.1 Q8TAX7 MUC7_HUMAN mucin 7, secreted 196 Thr-rich. extracellular region protein binding central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 Lung(101;0.211) ACCCACACCTTCTGCAACTAC 0.587000 4 126 0 0 1 0 0 PLEC 5339 broad.mit.edu 37 8 144992531 144992531 + Silent SNP G G A TCGA-D3-A51N-06A-11D-A25O-08 TCGA-D3-A51N-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx E6060B74-8D26-4958-BA90-E67190095211 DA260899-7399-4C79-BACD-7086CDBECC4F g.chr8:144992531G>A ENST00000322810.4 - 32 12038 c.11869C>T c.(11869-11871)Ctg>Ttg p.L3957L PLEC_ENST00000357649.2_Silent_p.L3824L|PLEC_ENST00000398774.2_Silent_p.L3788L|PLEC_ENST00000345136.3_Silent_p.L3820L|PLEC_ENST00000354958.2_Silent_p.L3798L|PLEC_ENST00000527096.1_Silent_p.L3843L|PLEC_ENST00000436759.2_Silent_p.L3847L|PLEC_ENST00000354589.3_Silent_p.L3820L|PLEC_ENST00000356346.3_Silent_p.L3806L NM_201380.2 NP_958782.1 Q15149 PLEC_HUMAN plectin 3957 Globular 2. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10) 137 GCCACCTCCAGGGGAAGGTGG 0.667000 4 5 0 0 1 0 0 SEPT7 989 broad.mit.edu 37 7 35930362 35930362 + Silent SNP T T C TCGA-D3-A51N-06A-11D-A25O-08 TCGA-D3-A51N-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx E6060B74-8D26-4958-BA90-E67190095211 DA260899-7399-4C79-BACD-7086CDBECC4F g.chr7:35930362T>C ENST00000494488.2 + 10 915 c.915T>C c.(913-915)taT>taC p.Y305Y SEPT7_ENST00000432293.2_Intron|SEPT7_ENST00000435235.1_Silent_p.Y266Y|SEPT7_ENST00000399035.3_Silent_p.Y318Y|SEPT7_ENST00000350320.6_Silent_p.Y318Y|SEPT7_ENST00000399034.2_Silent_p.Y320Y Q16181 SEPT7_HUMAN septin 7 319 cilium morphogenesis|cytokinesis|mitosis|protein heterooligomerization|regulation of embryonic cell shape cilium axoneme|cleavage furrow|condensed chromosome kinetochore|midbody|nucleus|septin complex|spindle|stress fiber GTP binding|protein binding|structural molecule activity p.Y320Y(3) central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1) 14 CTGTGACTTATAATGGAGTTG 0.323000 3 25 0 0 1 0 0 MST1R 4486 broad.mit.edu 37 3 49933493 49933493 + Silent SNP G G A TCGA-D3-A51N-06A-11D-A25O-08 TCGA-D3-A51N-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx E6060B74-8D26-4958-BA90-E67190095211 DA260899-7399-4C79-BACD-7086CDBECC4F g.chr3:49933493G>A ENST00000296474.3 - 11 2724 c.2697C>T c.(2695-2697)acC>acT p.T899T MST1R_ENST00000344206.4_Intron NM_002447.2 NP_002438.2 Q04912 RON_HUMAN macrophage stimulating 1 receptor (c-met-related tyrosine kinase) 899 cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|macrophage colony-stimulating factor receptor activity|protein binding cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3) 37 BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625) CACCACCCACGGTCACGTTGA 0.622000 6 143 0 0 1 0 0 ATP5H 10476 broad.mit.edu 37 17 73035062 73035062 + Missense_Mutation SNP G G A TCGA-D3-A51N-06A-11D-A25O-08 TCGA-D3-A51N-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx E6060B74-8D26-4958-BA90-E67190095211 DA260899-7399-4C79-BACD-7086CDBECC4F g.chr17:73035062G>A ENST00000301587.4 - 6 498 c.451C>T c.(451-453)Ccc>Tcc p.P151S ATP5H_ENST00000344546.4_Missense_Mutation_p.P127S|KCTD2_ENST00000584767.1_Intron|KCTD2_ENST00000581589.1_Intron NM_006356.2 NP_006347.1 O75947 ATP5H_HUMAN ATP synthase, H+ transporting, mitochondrial Fo complex, subunit d 151 ATP catabolic process|respiratory electron transport chain mitochondrial proton-transporting ATP synthase complex, coupling factor F(o) hydrogen ion transmembrane transporter activity lung(1)|skin(1) 2 all_lung(278;0.226) GGCCAATAGGGATACTTTTTC 0.363000 15 51 0 0 1 0 0 HAPLN3 145864 broad.mit.edu 37 15 89424928 89424928 + Silent SNP C C T TCGA-D3-A51N-06A-11D-A25O-08 TCGA-D3-A51N-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx E6060B74-8D26-4958-BA90-E67190095211 DA260899-7399-4C79-BACD-7086CDBECC4F g.chr15:89424928C>T ENST00000359595.3 - 3 367 c.153G>A c.(151-153)gtG>gtA p.V51V HAPLN3_ENST00000562889.1_Silent_p.V113V NM_178232.2 NP_839946.1 Q96S86 HPLN3_HUMAN hyaluronan and proteoglycan link protein 3 51 Ig-like V-type. cell adhesion proteinaceous extracellular matrix hyaluronic acid binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1) 17 Lung NSC(78;0.0392)|all_lung(78;0.077) CGGGTGTCTCCACCACCAGCT 0.637000 25 54 0 0 1 0 0 OR4B1 119765 broad.mit.edu 37 11 48238844 48238844 + Silent SNP C C T TCGA-D3-A51N-06A-11D-A25O-08 TCGA-D3-A51N-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx E6060B74-8D26-4958-BA90-E67190095211 DA260899-7399-4C79-BACD-7086CDBECC4F g.chr11:48238844C>T ENST00000309562.2 + 1 501 c.483C>T c.(481-483)atC>atT p.I161I NM_001005470.1 NP_001005470.1 Q8NGF8 OR4B1_HUMAN olfactory receptor, family 4, subfamily B, member 1 161 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 28 TTCTCGTTATCATCCAATTGC 0.473000 30 58 0 0 1 0 0 NBPF10 100132406 broad.mit.edu 37 1 145367739 145367739 + Silent SNP A A G rs146714035 by1000genomes TCGA-D3-A51N-06A-11D-A25O-08 TCGA-D3-A51N-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx E6060B74-8D26-4958-BA90-E67190095211 DA260899-7399-4C79-BACD-7086CDBECC4F g.chr1:145367739A>G ENST00000342960.5 + 83 10370 c.10335A>G c.(10333-10335)aaA>aaG p.K3445K NBPF10_ENST00000369339.2_Intron|NBPF10_ENST00000369338.1_Intron NM_001039703.4 NP_001034792.4 A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 3445 p.K3445K(4) NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) ggaaggggaaaaaaagaaggg 0.413000 3 43 0 0 1 0 0 FZD10 11211 broad.mit.edu 37 12 130648310 130648310 + Missense_Mutation SNP G G A TCGA-D3-A51N-06A-11D-A25O-08 TCGA-D3-A51N-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx E6060B74-8D26-4958-BA90-E67190095211 DA260899-7399-4C79-BACD-7086CDBECC4F g.chr12:130648310G>A ENST00000539839.1 + 1 1307 c.725G>A c.(724-726)cGt>cAt p.R242H FZD10_ENST00000229030.4_Missense_Mutation_p.V275M NM_007197.3 NP_009128.1 Q9ULW2 FZD10_HUMAN frizzled family receptor 10 0 brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|gonad development|negative regulation of Rho GTPase activity|neuron differentiation|non-canonical Wnt receptor signaling pathway|positive regulation of JUN kinase activity|positive regulation of Rac GTPase activity|regulation of actin cytoskeleton organization|vasculature development cell projection|cell surface|cytoplasm|integral to plasma membrane G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|pancreas(1)|prostate(3)|urinary_tract(1) 35 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05) CGTCTACTCCGTGGGCTACCT 0.662000 6 155 0 0 1 0 0 MSTO1 55154 broad.mit.edu 37 1 155582013 155582013 + Missense_Mutation SNP G G A TCGA-D3-A51N-06A-11D-A25O-08 TCGA-D3-A51N-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx E6060B74-8D26-4958-BA90-E67190095211 DA260899-7399-4C79-BACD-7086CDBECC4F g.chr1:155582013G>A ENST00000245564.2 + 8 743 c.719G>A c.(718-720)gGg>gAg p.G240E MSTO1_ENST00000538143.1_Intron|MSTO1_ENST00000368341.4_Missense_Mutation_p.G205E|MSTO1_ENST00000452804.2_Intron|MSTO1_ENST00000483734.1_3'UTR NM_001256532.1|NM_001256533.1|NM_018116.3 NP_001243461.1|NP_001243462.1|NP_060586.2 Q9BUK6 MSTO1_HUMAN misato 1, mitochondrial distribution and morphology regulator 240 mitochondrion distribution|protein polymerization mitochondrial outer membrane|protein complex breast(2)|endometrium(1)|lung(3)|skin(1) 7 Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145) GGCTTCTCTGGGGTAGGCGCG 0.567000 11 25 0 0 1 0 0 NBPF15 284565 broad.mit.edu 37 1 148594439 148594439 + Silent SNP A A G rs146739148 byFrequency TCGA-D3-A51N-06A-11D-A25O-08 TCGA-D3-A51N-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx E6060B74-8D26-4958-BA90-E67190095211 DA260899-7399-4C79-BACD-7086CDBECC4F g.chr1:148594439A>G ENST00000442702.2 + 21 2879 c.1812A>G c.(1810-1812)ttA>ttG p.L604L NBPF15_ENST00000369187.3_Silent_p.L604L NM_001170755.1 NP_001164226.1 Q8N660 NBPFF_HUMAN neuroblastoma breakpoint family, member 15 604 NBPF 6. cytoplasm NS(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|skin(2) 12 all_hematologic(923;0.032) CTGAAGTCTTACAGGACTCAC 0.463000 4 243 0 0 1 0 0 PDC 5132 broad.mit.edu 37 1 186415629 186415629 + Missense_Mutation SNP C C T rs141620121 TCGA-D3-A51N-06A-11D-A25O-08 TCGA-D3-A51N-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx E6060B74-8D26-4958-BA90-E67190095211 DA260899-7399-4C79-BACD-7086CDBECC4F g.chr1:186415629C>T ENST00000391997.2 - 3 229 c.142G>A c.(142-144)Gag>Aag p.E48K PDC_ENST00000340129.5_Missense_Mutation_p.E48K|PDC_ENST00000497198.1_5'UTR|PDC_ENST00000456239.2_5'UTR NM_002597.4 NP_002588.3 P20941 PHOS_HUMAN phosducin 48 G-protein coupled receptor protein signaling pathway|phototransduction|visual perception actin cytoskeleton|cytosol|nucleus|photoreceptor inner segment|photoreceptor outer segment phospholipase inhibitor activity p.E48K(1) central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|prostate(1)|skin(1) 7 Breast(1374;1.53e-05) KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|Colorectal(1306;0.0129) CTGAGAATCTCCTTCTTGCTA 0.353000 19 40 0 0 1 0 0 BIRC8 112401 broad.mit.edu 37 19 53793030 53793030 + Missense_Mutation SNP C C T TCGA-D3-A51N-06A-11D-A25O-08 TCGA-D3-A51N-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx E6060B74-8D26-4958-BA90-E67190095211 DA260899-7399-4C79-BACD-7086CDBECC4F g.chr19:53793030C>T ENST00000426466.1 - 1 1845 c.598G>A c.(598-600)Gtt>Att p.V200I NM_033341.4 NP_203127.3 Q96P09 BIRC8_HUMAN baculoviral IAP repeat containing 8 200 apoptosis zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|urinary_tract(1) 19 GBM - Glioblastoma multiforme(134;0.00304) GGAATAAAAACAACAGCGATA 0.448000 4 77 0 0 1 0 0 PNMA3 29944 broad.mit.edu 37 X 152226399 152226399 + Silent SNP C C T TCGA-D3-A51N-06A-11D-A25O-08 TCGA-D3-A51N-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx E6060B74-8D26-4958-BA90-E67190095211 DA260899-7399-4C79-BACD-7086CDBECC4F g.chrX:152226399C>T ENST00000447306.1 + 2 1323 c.987C>T c.(985-987)ctC>ctT p.L329L PNMA3_ENST00000370264.4_Silent_p.L329L|PNMA3_ENST00000370265.4_Silent_p.L329L NM_013364.4 NP_037496.3 Q9UL41 PNMA3_HUMAN paraneoplastic Ma antigen 3 329 apoptosis nucleolus nucleic acid binding|zinc ion binding endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2) 16 Acute lymphoblastic leukemia(192;6.56e-05) tggtgaagctcctgcgtgagg 0.577000 13 36 0 0 1 0 0 C1QTNF9 338872 broad.mit.edu 37 13 24895859 24895859 + Missense_Mutation SNP G G A TCGA-D3-A51N-06A-11D-A25O-08 TCGA-D3-A51N-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx E6060B74-8D26-4958-BA90-E67190095211 DA260899-7399-4C79-BACD-7086CDBECC4F g.chr13:24895859G>A ENST00000382071.2 + 4 1040 c.955G>A c.(955-957)Gac>Aac p.D319N C1QTNF9_ENST00000332018.4_Missense_Mutation_p.D319N P0C862 C1T9A_HUMAN C1q and tumor necrosis factor related protein 9 319 C1q. collagen hormone activity endometrium(1)|kidney(2)|lung(6) 9 all_cancers(29;3.55e-20)|all_epithelial(30;4.25e-17)|all_lung(29;1.04e-16)|Lung SC(185;0.0225)|Breast(139;0.052) all cancers(112;0.00565)|Epithelial(112;0.027)|OV - Ovarian serous cystadenocarcinoma(117;0.115)|Lung(94;0.159) TGCTGATGAGGACGATGACAC 0.542000 22 81 0 0 1 0 0 MIIP 60672 broad.mit.edu 37 1 12091833 12091833 + Missense_Mutation SNP C C T TCGA-D3-A51N-06A-11D-A25O-08 TCGA-D3-A51N-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx E6060B74-8D26-4958-BA90-E67190095211 DA260899-7399-4C79-BACD-7086CDBECC4F g.chr1:12091833C>T ENST00000235332.4 + 10 1304 c.1135C>T c.(1135-1137)Cct>Tct p.P379S MIIP_ENST00000466860.1_3'UTR|MIIP_ENST00000436478.2_Silent_p.S346S NM_021933.3 NP_068752.2 Q5JXC2 MIIP_HUMAN migration and invasion inhibitory protein 379 autonomic_ganglia(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(1) 15 GCCCCAGGTCCCTCGGCCCCA 0.672000 38 88 0 0 1 0 0 RGPD3 653489 broad.mit.edu 37 2 107049681 107049681 + Missense_Mutation SNP T T C TCGA-D3-A51N-06A-11D-A25O-08 TCGA-D3-A51N-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx E6060B74-8D26-4958-BA90-E67190095211 DA260899-7399-4C79-BACD-7086CDBECC4F g.chr2:107049681T>C ENST00000409886.3 - 16 2353 c.2266A>G c.(2266-2268)Aac>Gac p.N756D RGPD3_ENST00000304514.7_Missense_Mutation_p.N756D NM_001144013.1 NP_001137485.1 A6NKT7 RGPD3_HUMAN RANBP2-like and GRIP domain containing 3 756 intracellular transport binding p.N756D(6) breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2) 71 TCACTATAGTTTTCGAGTTCC 0.373000 5 155 0 0 1 0 0 LAMA3 3909 broad.mit.edu 37 18 21438729 21438729 + Missense_Mutation SNP G G A TCGA-D3-A51N-06A-11D-A25O-08 TCGA-D3-A51N-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx E6060B74-8D26-4958-BA90-E67190095211 DA260899-7399-4C79-BACD-7086CDBECC4F g.chr18:21438729G>A ENST00000313654.9 + 34 4599 c.4358G>A c.(4357-4359)tGt>tAt p.C1453Y LAMA3_ENST00000399516.3_Missense_Mutation_p.C1453Y NM_198129.1 NP_937762.1 Q16787 LAMA3_HUMAN laminin, alpha 3 1453 Domain III B.|Laminin EGF-like 12. cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4) 128 all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) CTCAAGGGTTGTACCAGCTGT 0.408000 6 90 0 0 1 0 0 NBEA 26960 broad.mit.edu 37 13 35624410 35624410 + Missense_Mutation SNP C C T TCGA-D3-A51N-06A-11D-A25O-08 TCGA-D3-A51N-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx E6060B74-8D26-4958-BA90-E67190095211 DA260899-7399-4C79-BACD-7086CDBECC4F g.chr13:35624410C>T ENST00000540320.1 + 6 1384 c.850C>T c.(850-852)Cgt>Tgt p.R284C NBEA_ENST00000379939.2_Missense_Mutation_p.R284C|NBEA_ENST00000310336.4_Missense_Mutation_p.R284C|NBEA_ENST00000400445.3_Missense_Mutation_p.R284C Q8NFP9 NBEA_HUMAN neurobeachin 284 cytosol|endomembrane system|plasma membrane|trans-Golgi network protein binding NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 108 Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207) all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199) TTGCAGTTTTCGTACTAGCAA 0.318000 6 19 0 0 1 0 0 MTOR 2475 broad.mit.edu 37 1 11288973 11288973 + Missense_Mutation SNP C C T TCGA-D3-A51N-06A-11D-A25O-08 TCGA-D3-A51N-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx E6060B74-8D26-4958-BA90-E67190095211 DA260899-7399-4C79-BACD-7086CDBECC4F g.chr1:11288973C>T ENST00000361445.4 - 19 2858 c.2782G>A c.(2782-2784)Gac>Aac p.D928N NM_004958.3 NP_004949.1 P42345 MTOR_HUMAN mechanistic target of rapamycin (serine/threonine kinase) 928 cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex ATP binding|phosphoprotein binding|protein serine/threonine kinase activity breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 149 GTGCTATAGTCAGCTAGGACA 0.478000 21 43 0 0 1 0 0 OR8K3 219473 broad.mit.edu 37 11 56086268 56086268 + Silent SNP G G A TCGA-D3-A51N-06A-11D-A25O-08 TCGA-D3-A51N-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx E6060B74-8D26-4958-BA90-E67190095211 DA260899-7399-4C79-BACD-7086CDBECC4F g.chr11:56086268G>A ENST00000312711.1 + 1 486 c.486G>A c.(484-486)aaG>aaA p.K162K NM_001005202.1 NP_001005202.1 Q8NH51 OR8K3_HUMAN olfactory receptor, family 8, subfamily K, member 3 162 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(2)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|ovary(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 40 Esophageal squamous(21;0.00448) TCACCATAAAGATTTTTACTT 0.388000 12 32 0 0 1 0 0 CC2D2B 387707 broad.mit.edu 37 10 97779025 97779025 + Silent SNP C C A TCGA-D3-A51N-06A-11D-A25O-08 TCGA-D3-A51N-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx E6060B74-8D26-4958-BA90-E67190095211 DA260899-7399-4C79-BACD-7086CDBECC4F g.chr10:97779025C>A ENST00000344386.3 + 7 752 c.588C>A c.(586-588)ggC>ggA p.G196G ENTPD1-AS1_ENST00000454638.1_RNA|ENTPD1-AS1_ENST00000458228.1_RNA|RP11-690P14.4_ENST00000475252.2_Intron|ENTPD1-AS1_ENST00000451364.1_RNA|ENTPD1-AS1_ENST00000416301.1_RNA|CC2D2B_ENST00000371198.2_Intron|ENTPD1-AS1_ENST00000452728.1_RNA|CC2D2B_ENST00000410012.2_Silent_p.G196G NM_001001732.3 NP_001001732.2 Q6DHV5 C2D2B_HUMAN coiled-coil and C2 domain containing 2B 196 large_intestine(1)|lung(7)|ovary(1)|urinary_tract(1) 10 Colorectal(252;0.158) Epithelial(162;7.08e-08)|all cancers(201;2.71e-06) CATCAACTGGCCAATGTTATA 0.333000 19 23 2.94398e-08 3.0252e-08 1 1 0 SOGA1 140710 broad.mit.edu 37 20 35443640 35443640 + Silent SNP G G A TCGA-D3-A51N-06A-11D-A25O-08 TCGA-D3-A51N-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx E6060B74-8D26-4958-BA90-E67190095211 DA260899-7399-4C79-BACD-7086CDBECC4F g.chr20:35443640G>A ENST00000237536.4 - 5 2546 c.2205C>T c.(2203-2205)ctC>ctT p.L735L SOGA1_ENST00000279034.5_Silent_p.L497L|SOGA1_ENST00000456801.2_Silent_p.L338L|SOGA1_ENST00000357779.3_Silent_p.L497L NM_080627.2 NP_542194.2 O94964 K0889_HUMAN suppressor of glucose, autophagy associated 1 497 endometrium(5)|kidney(1)|lung(21)|urinary_tract(1) 28 CAGAGCACCCGAGGACTGCAT 0.602000 35 64 0 0 1 0 0 FAT3 120114 broad.mit.edu 37 11 92577337 92577337 + Missense_Mutation SNP G G A TCGA-D3-A51N-06A-11D-A25O-08 TCGA-D3-A51N-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx E6060B74-8D26-4958-BA90-E67190095211 DA260899-7399-4C79-BACD-7086CDBECC4F g.chr11:92577337G>A ENST00000298047.6 + 18 10821 c.10804G>A c.(10804-10806)Gat>Aat p.D3602N FAT3_ENST00000409404.2_Missense_Mutation_p.D3602N|FAT3_ENST00000525166.1_Missense_Mutation_p.D3452N Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 3602 Cadherin 33. homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) GAACAGTCACGATGGGAAAAT 0.483000 TCGA Ovarian(4;0.039) 66 130 0 0 1 0 0 ZNF534 147658 broad.mit.edu 37 19 52941272 52941272 + Missense_Mutation SNP G G A TCGA-D3-A51N-06A-11D-A25O-08 TCGA-D3-A51N-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx E6060B74-8D26-4958-BA90-E67190095211 DA260899-7399-4C79-BACD-7086CDBECC4F g.chr19:52941272G>A ENST00000332323.6 + 4 659 c.598G>A c.(598-600)Gga>Aga p.G200R ZNF534_ENST00000433050.1_Missense_Mutation_p.G187R|ZNF534_ENST00000432303.2_Intron|ZNF534_ENST00000301085.4_Intron NM_001143939.1 NP_001137411.1 Q76KX8 ZN534_HUMAN zinc finger protein 534 200 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|lung(1)|prostate(1)|skin(1) 4 AAAGCCTTATGGATGTAATGA 0.358000 17 57 0 0 1 0 0 MROH7 374977 broad.mit.edu 37 1 55118697 55118697 + Missense_Mutation SNP C C T TCGA-D3-A51N-06A-11D-A25O-08 TCGA-D3-A51N-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx E6060B74-8D26-4958-BA90-E67190095211 DA260899-7399-4C79-BACD-7086CDBECC4F g.chr1:55118697C>T ENST00000414150.2 + 3 376 c.98C>T c.(97-99)aCc>aTc p.T33I MROH7_ENST00000395690.2_Missense_Mutation_p.T33I|MROH7_ENST00000409996.1_Intron|MROH7_ENST00000454855.2_Intron|MROH7_ENST00000545244.1_Intron|MROH7_ENST00000339553.5_Missense_Mutation_p.T33I|MROH7_ENST00000472987.1_3'UTR|MROH7_ENST00000421030.2_Missense_Mutation_p.T33I maestro heat-like repeat family member 7 GGGTCTGGTACCATCCCTCAG 0.562000 19 40 0 0 1 0 0 PGC 5225 broad.mit.edu 37 6 41708265 41708265 + Missense_Mutation SNP A A G TCGA-D3-A51N-06A-11D-A25O-08 TCGA-D3-A51N-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx E6060B74-8D26-4958-BA90-E67190095211 DA260899-7399-4C79-BACD-7086CDBECC4F g.chr6:41708265A>G ENST00000373025.3 - 6 793 c.731T>C c.(730-732)gTc>gCc p.V244A NM_002630.3 NP_002621.1 P20142 PEPC_HUMAN progastricsin (pepsinogen C) 244 digestion|proteolysis extracellular space aspartic-type endopeptidase activity endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|skin(1) 16 Ovarian(28;0.0355)|Colorectal(47;0.121) Epithelial(12;0.000132)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00507) TTCCTGGGTGACAGGCGCCCA 0.617000 6 136 0 0 1 0 0 SNRK 54861 broad.mit.edu 37 3 43345095 43345095 + Missense_Mutation SNP C C T TCGA-D3-A51N-06A-11D-A25O-08 TCGA-D3-A51N-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx E6060B74-8D26-4958-BA90-E67190095211 DA260899-7399-4C79-BACD-7086CDBECC4F g.chr3:43345095C>T ENST00000296088.7 + 3 704 c.400C>T c.(400-402)Cat>Tat p.H134Y SNRK_ENST00000454177.1_Missense_Mutation_p.H134Y|SNRK_ENST00000429705.2_Missense_Mutation_p.H134Y|SNRK_ENST00000462810.1_3'UTR|SNRK_ENST00000437827.1_Intron NM_017719.4 NP_060189.3 Q9NRH2 SNRK_HUMAN SNF related kinase 134 Protein kinase. myeloid cell differentiation nucleus ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(5)|prostate(1)|skin(2)|stomach(1) 27 KIRC - Kidney renal clear cell carcinoma(284;0.0636)|Kidney(284;0.0792) CCATAAACTCCATGTGGTTCA 0.358000 24 38 0 0 1 0 0 FANCE 2178 broad.mit.edu 37 6 35426104 35426104 + Missense_Mutation SNP C C T TCGA-D3-A51N-06A-11D-A25O-08 TCGA-D3-A51N-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx E6060B74-8D26-4958-BA90-E67190095211 DA260899-7399-4C79-BACD-7086CDBECC4F g.chr6:35426104C>T ENST00000229769.2 + 5 1185 c.1000C>T c.(1000-1002)Cct>Tct p.P334S NM_021922.2 NP_068741.1 Q9HB96 FANCE_HUMAN Fanconi anemia, complementation group E 334 Interaction with FANCC. DNA repair nucleoplasm protein binding NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|ovary(1)|skin(2) 13 GCTGCAGCTCCCTCAGCTCTC 0.607000 """N, F, S""" """AML, leukemia""" Involved in tolerance or repair of DNA crosslinks Fanconi Anemia 48 91 0 0 1 0 0 TSHZ1 10194 broad.mit.edu 37 18 72997588 72997588 + Missense_Mutation SNP T T A TCGA-D3-A51N-06A-11D-A25O-08 TCGA-D3-A51N-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx E6060B74-8D26-4958-BA90-E67190095211 DA260899-7399-4C79-BACD-7086CDBECC4F g.chr18:72997588T>A ENST00000322038.5 + 2 675 c.91T>A c.(91-93)Tcg>Acg p.S31T TSHZ1_ENST00000580243.1_Missense_Mutation_p.S76T NM_005786.5 NP_005777.3 Q6ZSZ6 TSH1_HUMAN teashirt zinc finger homeobox 1 76 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2) 42 Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211) Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246) CGGCTACGGGTCGCCCTTCAG 0.572000 17 24 0 0 1 0 0 STXBP5L 9515 broad.mit.edu 37 3 120764302 120764302 + Silent SNP T T C TCGA-D3-A51N-06A-11D-A25O-08 TCGA-D3-A51N-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx E6060B74-8D26-4958-BA90-E67190095211 DA260899-7399-4C79-BACD-7086CDBECC4F g.chr3:120764302T>C ENST00000273666.6 + 5 661 c.390T>C c.(388-390)agT>agC p.S130S STXBP5L_ENST00000492541.1_Silent_p.S130S|STXBP5L_ENST00000472879.1_Silent_p.S130S|STXBP5L_ENST00000471454.1_Silent_p.S130S|STXBP5L_ENST00000497029.1_Silent_p.S130S NM_014980.2 NP_055795.1 Q9Y2K9 STB5L_HUMAN syntaxin binding protein 5-like 130 exocytosis|protein transport cytoplasm|integral to membrane|plasma membrane NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 68 GBM - Glioblastoma multiforme(114;0.0694) TCAGTGCAAGTTCAGATGATA 0.348000 32 63 0 0 1 0 0 FBN2 2201 broad.mit.edu 37 5 127611782 127611782 + Missense_Mutation SNP C C G TCGA-D3-A51N-06A-11D-A25O-08 TCGA-D3-A51N-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx E6060B74-8D26-4958-BA90-E67190095211 DA260899-7399-4C79-BACD-7086CDBECC4F g.chr5:127611782C>G ENST00000508053.1 - 65 8516 c.7542G>C c.(7540-7542)caG>caC p.Q2514H FBN2_ENST00000262464.4_Missense_Mutation_p.Q2514H P35556 FBN2_HUMAN fibrillin 2 2514 EGF-like 42; calcium-binding. bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation microfibril calcium ion binding|extracellular matrix structural constituent NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 197 all_cancers(142;0.0216)|Prostate(80;0.0551) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146) GACATGAACACTGATAACTCC 0.443000 33 96 0 0 1 0 0 DUSP6 1848 broad.mit.edu 37 12 89745740 89745741 + Frame_Shift_Ins INS - - G TCGA-D3-A51N-06A-11D-A25O-08 TCGA-D3-A51N-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx E6060B74-8D26-4958-BA90-E67190095211 DA260899-7399-4C79-BACD-7086CDBECC4F g.chr12:89745740_89745741insG ENST00000279488.7 - 1 1307_1308 c.76_77insC c.(76-78)gctfs p.A26fs DUSP6_ENST00000308385.6_Frame_Shift_Ins_p.A26fs NM_001946.2 NP_001937.2 Q16828 DUS6_HUMAN dual specificity phosphatase 6 26 dorsal/ventral pattern formation|inactivation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|nerve growth factor receptor signaling pathway|positive regulation of apoptosis|regulation of endodermal cell fate specification|regulation of fibroblast growth factor receptor signaling pathway|regulation of heart growth|response to nitrosative stress|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity large_intestine(5)|lung(8)|skin(2)|urinary_tract(1) 16 CAGCTCCAGCTGCTCGTTGAGC 0.649 20 39 --- --- --- --- RP11-175P13.3 0 broad.mit.edu 37 12 100583704 100583704 + RNA DEL A A - TCGA-D3-A51N-06A-11D-A25O-08 TCGA-D3-A51N-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx E6060B74-8D26-4958-BA90-E67190095211 DA260899-7399-4C79-BACD-7086CDBECC4F g.chr12:100583704delA ENST00000548404.2 - 0 197 GAAGCCTCTGAAAGGCTGAGG 0.552 2 4 --- --- --- --- KIZ-AS1 101929591 broad.mit.edu 37 20 21146788 21146789 + RNA INS - - TT rs34056823 TCGA-D3-A51N-06A-11D-A25O-08 TCGA-D3-A51N-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx E6060B74-8D26-4958-BA90-E67190095211 DA260899-7399-4C79-BACD-7086CDBECC4F g.chr20:21146788_21146789insTT ENST00000591761.1 - 0 5051 PLK1S1_ENST00000457464.1_RNA tgtattttGTATTTTTTTTTTT 0.401 4 3 --- --- --- --- TOP1 7150 broad.mit.edu 37 20 39721212 39721213 + Frame_Shift_Del DEL AA AA - TCGA-D3-A51N-06A-11D-A25O-08 TCGA-D3-A51N-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx E6060B74-8D26-4958-BA90-E67190095211 DA260899-7399-4C79-BACD-7086CDBECC4F g.chr20:39721212_39721213delAA ENST00000361337.2 + 9 965_966 c.715_716delAA c.(715-717)gfs p.K239fs NM_003286.2 NP_003277.1 P11387 TOP1_HUMAN topoisomerase (DNA) I 239 DNA topological change|interspecies interaction between organisms|phosphorylation|programmed cell death|response to drug chromosome|nucleolus|nucleoplasm ATP binding|chromatin DNA binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity|protein binding breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1) 37 Myeloproliferative disorder(115;0.00878) Irinotecan(DB00762)|Lucanthone(DB04967)|Topotecan(DB01030) AGAGAATGTCAAGTTTTATTAT 0.411 T NUP98 AML* 8 71 --- --- --- ---